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The authors report a case of a 29-year-old Saudi woman who was G4T2P0A1L2 at 21 weeks of gestation. She was free from medical illness and she had had no previous surgical procedures. She is a housewife; she never smoked tobacco or drank alcohol, and she had no history of recent travel to endemic or pandemic areas. She was referred based on an antenatal ultrasound finding that showed multiple fetal anomalies. This ultrasound had been conducted at another hospital for evaluation and management. Her past obstetrical history was uneventful with two normal term vaginal deliveries and a history of first trimester unexplained miscarriages. She is married to a first-degree cousin working in a governmental institute; there is no history of genetic or congenital anomaly in either of their families.\nHer current pregnancy was spontaneous with no history of illicit drug use or exposure to infection or radiation. Her initial early antenatal scan diagnosis showed suspicion of possible fetal diaphragmatic hernia and required further validation which was not possible at the maternal–fetal medicine (MFM) unit at the hospital which also did not have available sonographic specialists. During her first antenatal visit at 21 weeks + 0 day of gestation, the results of her anatomy scan revealed a single viable fetus with estimated fetal weight (EFW) on 50th percentile with normal biometry measurements.\nFurther detailed anatomy scan findings revealed a male fetus with both kidneys appearing small in size, hyperechoic dysplastic, both ureters were dilated, urinary bladder looked abnormal in shape with thickened bladder wall, and umbilical cord at fetal insertion side appeared thickened. In addition, the diaphragm was seen clearly separating the chest from the abdominal compartments with no evidence of diaphragmatic hernia. Both feet were clubbed and open hands were seen with no other anomalies or any soft marker seen (see Fig. .) Based on the multiple fetal structural anomalies discovered, the couple was counseled about the scan findings and advised for further workup, such as: perinatal invasive testing; toxoplasmosis, other (syphilis, varicella-zoster, parvovirus B19), rubella, cytomegalovirus, and herpes (TORCH) screening; and fetal echocardiogram to exclude syndromic or chromosomal causes. This would support reaching a better diagnosis and allow for further discussion on the options available such as the continuity of the pregnancy or termination based on the severity of the fetal condition (see Table ).\nOur patient had some social issues and was also following her condition in another institute and only revisited our center at 32 weeks and 4 days of gestation. At our center another follow-up scan revealed a single viable fetus, cephalic in presentation, anhydramnios with normal head and femoral length biometry. Unfortunately, the abdominal circumference (AC) was not taken due to the extremely distended abdominal wall that prevented any further visualization by ultrasound. The right kidney measured 3.4 × 1.1 cm with a small cyst, the left kidney measured 2.9 × 1.3 cm with bilateral hugely dilated ureter and urinary bladder (mega cyst) (see Fig. ).\nTORCH screen test results were non-reactive. Amniocentesis was performed and showed normal chromosomal results. A fetal echocardiogram allowed for limited examination due to anhydramnios; however, no obvious cardiac anomalies were noted. Lungs appeared compressed due to severely distended abdomen from the progressively enlarged urinary system, otherwise no other abnormal findings noted. The couple was counseled by the MFM team about the worsening condition from the recent scan findings and were told about the poor fetal prognosis and the high mortality rate, secondary to severe lung compression with the presence of anhydramnios which would lead to lung hypoplasia and cause fetal demise.\nIt was explained that the entire urinary system was affected with severe dilatation causing severe abdominal wall dilatation and for this reason measuring fetal AC had been difficult antenatally. Options were discussed with the couple:Termination of pregnancy to avoid obstetrical complication during labor which is fetal abdominal dystocia as it was difficult to measure the abdominal wall antenatally with the severe progressive renal system dilation with advancing gestational age versus To wait until term pregnancy while knowing the poor fetal prognosis\nFurthermore, antenatal interventions were offered to the couple including tapping of the fetal bladder and ureters prior to induction of labor and to then send the amniotic fluid sample for further genetic testing. Our patient’s case was initially discussed by a multidisciplinary team which included a perinatologist and a neonatologist before finally making a combined agreement and alignment with the couple who decided to terminate the pregnancy; a caesarian section would be preserved for maternal indication and comfort care post-delivery to born infant were also explained.\nAt 32 weeks and 5 days of gestation, tapping of the fetal bladder and ureter was performed and samples of amniotic fluid were sent for whole exome sequencing (WES) test; however, unfortunately, after waiting a few weeks for the results, no results could be determined due to a laboratory error.\nOur patient underwent induction of labor to terminate the pregnancy and delivered vaginally a male neonate with Apgar score of 2 in 1 minute and 5 in 5 minutes, weighing 1800 grams without any complications. The vital signs revealed blood pressure of 90/60, pulse 100 beats /minute, and temperature of 36 °C. Clinical examination of the newborn revealed distended abdomen and thin wrinkled skin, retracted chest, cryptorchidism, and clubbed feet; no facial anomalies were noted and the features were most likely to be suggestive of PBS (see Fig. ). The newborn died 2 hours post-delivery.\nThe placenta was sent for a histopathology examination as a part of the workup and the result revealed normal findings.\nA postmortem examination was not offered to the couple since this is not conducted in the center. The couple was counseled prior to discharge regarding future pregnancy plans, despite low reoccurrence. It was also highlighted to them the importance of having early prenatal testing in a center in which there were well-trained sonographers and a high risk in pregnancy unit available. They were also informed about the lack of result of WES test due to laboratory error and they were fine.
A 44-year-old woman with no remarkable family history was admitted to our hospital with the following medical history: after undergoing modified radical mastectomy for cancer of the right breast (papillotubular carcinoma, T3N1M0) in March 2009 at another hospital, the patient received postoperative chemotherapy (4 courses of docetaxel+trastuzumab followed by 14 courses of trastuzumab). However, in March 2011, local excision was performed because of a recurrence that appeared at the site of the surgery, and adjuvant chemotherapy was administered. No relapses were observed thereafter.\nWhen the patient was admitted to our hospital, the patient was of moderate build, was well nourished, had no yellowing of the bulbar conjunctiva, had no conjunctival pallor, and displayed no unusual finding in the heart or lungs. The abdomen was flat; the liver and spleen were not palpable. No remarkable finding was observed. An elastic, hard tumor approximately 20 mm in diameter with relatively distinct boundaries was felt in the left C region. The tumor was observed to be not fixed to the pectoral muscle, and it had not infiltrated the skin. No abnormal nipple discharge was observed, and axillary lymph nodes were not palpable. Peripheral blood and blood biochemistry test results were normal.\nBy mammographic examination, a high-density tumor with irregular margins and internal calcification was observed and was classified in Category 4. Because the imaging system at our institution has been changed and all previous imaging data were deleted, there are no mammograms to display here. Ultrasonographic analysis revealed that a 10 × 11 × 9 mm hypoechoic area was observed in the C region of the left breast. The lesion had a Tsukuba elasticity score of 2 and internal blood flow, and malignancy was suspected (Fig. ). By positron emission tomography and X-ray computed tomography (PET-CT), an area of greatly increased uptake was observed in the upper outer quadrant of the left breast (SUV max: 8.2→9.77) (Fig. ).\nBased on the above characteristics, the patient was given a preoperative diagnosis of T1cN0M0 Stage I cancer of the left breast, and left partial mastectomy and axillary lymph node dissection were performed.\nThe tumor was a solid light gray nodular lesion with distinct borders and measured 27 × 23 × 23 mm. Histologically, the tumor was a well-differentiated squamous cell carcinoma with prominent keratinization, and there was prominent inflammatory cell infiltration, necrosis, and fibrosis. These findings were consistent with primary pure squamous cell carcinoma of the breast. The specimen was ly(−), v(−) and did not appear to have any clear sign of vascular invasion. The lymph node was pN0 (0/9): Level I-0/8, Level II-0/1, and no lymph node metastasis was observed (Fig. ). Immunohistological staining revealed that hormone receptors were negative, with estrogen receptors (ERs) at ≤1% and progesterone receptors (PgRs) at ≤1%. The HER2 score was 1+ but is only a reference value.\nBased on the above findings, the final diagnosis was cancer of the left breast, T2N0M0 Stage IIA.\nThe postoperative clinical course of the patient was favorable, and the patient was administered 4 courses of FEC100 and 4 courses of DTX as postoperative adjuvant therapy. Observation was continued in the outpatient department, and no sign of relapse was observed. However, the patient moved away from the area to another hospital in March 2014, and eventually died due to relapse in January 2016.
A 19-year-old male presented with a swollen left mandible and a palpable mass at the level of element 37. He had mild pain since a few weeks. The symptoms had been attributed to a dental problem by a local dentist, and root canal treatment had been performed, without any effect on the pain or swelling.\nAt the initial consultation, a mass was clearly palpable. A panoramic image showed a sclerotic, sharply delineated lesion with a low-attenuation halo, fused with the root of the adjacent molar (). A panoramic radiograph obtained 3 years earlier, for post- orthodontic treatment evaluation, did not shown any tumour sign ().\nCBCT showed a heterogeneous mandibular mass associated with the element 37 causing compression and infero-lingual displacement of the inferior alveolar and mental nerve. The mandibular cortex was thinned at the vestibular side and absent at the lingual side (). Despite the relatively rapid growth, the diagnosis of benign cementoblastoma was proposed based on the classic appearance as a periapical, sclerotic, sharply delineated lesion with a low-attenuation halo, directly fused to the root of the tooth.\n3D renderings showing the affected anatomic area were obtained (). Considering lesion size and location, a possible pathological fracture of the mandible pre- or post-operatively was considered.\nIn order to prepare for such risk or complication, 3D planning and printing were made available. The virtual 3D planning was performed in PROPLAN software (Materialise, Leuven, Belgium). The pre-operative CT patient Digital Imaging and Communications in Medicine (DICOM) images were imported into the software where threshold was applied to segment the mandible and the lesion. Both objects were further manually refined and 3D models were created. The inferior alveolar mandibular nerves were traced and 3D models were created. All 3D models were revised by the surgeon prior to export. These models were then exported as Standard Template Library (STL) files for 3D printing. The STL files were imported into the software of the professional Objet Connex 350 printer (Stratasys, Eden Prairie, MN) which is a polyjet printer with layer thickness of 30 µm. The mandible was printed in transparent hard material while the lesion and nerves in hard white material.\nThe 3D printed model allowed for possible fast and accurate (pre)bending of an osteosynthesis plate. Furthermore, considering the tumour size as well as the size of the expected post-surgical bone defect, the possibility for needing a bone graft was also taken into account.\nA standard surgical approach was used (). The tumour could be completely dissected, and the mental nerve could be separated from the tumour without injuring the nerve. Element 37 was removed. The cementoblastoma was split in pieces using a surgical drill, and the pieces were carefully removed, taking care to avoid mandibular fracture or nerve injury. The inferior alveolar nerve could be identified at the bottom of the resection cavity and appeared intact. The mandibular wisdom tooth was not removed in order to minimise the risk of pre- and post-operative fracture. While the mandibular cortex was deficient at the lingual side (as shown pre-operatively by the CBCT images and 3D model), the lower part of the mandibular bone could be kept intact during the procedure and fracture did not occur. The resection cavity was filled with 8 L-PRF membranes. Tight intermaxillary fixation was applied for 6 weeks. No bone grafts were placed in order to facilitate interpretation of the post-operative evolution, taking into account the possibility of tumour recurrence. The post-operative course was uneventful. Follow-up imaging obtained 4 years and 6 months after surgery showed normal healing with progressive new bone formation and closure of the bone defect ().
A 27-year-old male patient was referred to our pain clinic after having had orchidectomy for a left sided testicular cancer, 2 years earlier. He continued to have a persistent, severe pain in his right groin and scrotal area. The pain was continuous and dull with a heavy feeling. He reported the severity to be 8/10, on average. He described this to be a severe, burning, sharp pain, which could make him nauseous and fainting with any physical activity such as running, jumping, sexual intercourse, and physical examination. He also reported significant sensitivity and allodynia. Prior to our consultation, he was investigated with an ultrasound and CT scan on the right side. Since they showed some signs of edema and possible epididymitis, he was treated with antibiotics, without much improvement. He was also tried on nortriptyline 10 mg and (lyrica) pregabalin 150 mg BID, without much improvement. There were no other comorbidities or allergies. He was referred to us for the possibility of inguinal nerve blocks. On examination, he was anxious and quiet worried. His gait and posture were normal. His scrotal examination showed an empty scrotal sac on the left side and a highly sensitive inguinal region and scrotal sac on the right side. There were no signs of infection, swelling, or redness. There were no signs of inguinal or femoral hernia. The maximum tenderness was found to be just at the pubic tubercle and below, extending up to the whole of the right side of scrotum and also slightly over the medial side of thigh. Since the area of the lower abdomen and groin can be supplied by IL, IH, or GF nerve, we decided to perform separate diagnostic blocks to confirm the diagnosis and for a possible treatment. Initially, he underwent an ultrasound guided IL and IH nerve block, by the corresponding author, using 2 mL of 2% lidocaine and 2 mL of 0.25% bupivacaine mixed with 40 mg of depomedrol. The sensory block achieved did not cover the area of his pain. Approximately a month after that we performed an ultrasound guided GF nerve block using 2 mL of 2% lidocaine and 2 mL of 0.25% bupivacaine mixed with 40 mg of depomedrol.\nWith patient in supine position, the inguinal area and the area above the femoral vessels were uncovered and wiped with chlorohexidine solution. A high frequency, linear, high resolution probe (GE Ultrasound, LOGIQ e machine) was initially kept perpendicular to the inguinal ligament just above the femoral vessels ().\nA cephalad movement of the probe identified the iliac artery splitting into femoral and external iliac arteries. This corresponds to the level of the internal inguinal ring []. An oval structure lying medial and superficial to the femoral artery is the inguinal canal with its contents. A longitudinal view of the femoral artery is also identified at the same site (). The contents of the inguinal canal were identified clearly, with testicular vessels shown laterally and spermatic cord shown medially. We used an in-plane approach to direct the needle towards the spermatic cord to block the genital branch of the GF nerve, using a 50 mm echostim needle (Benlan, Ontario, Canada) (). Soon after the block, the patient noticed considerable improvement and tested it by jumping and running, to see if it hurts. The intensity of pain came down to 4/10, and the attacks of sharp pain became infrequent. The initial relief lasted 3 months, and he had a similar effect for the 2nd injection which lasted for 6 months. With an aim to prevent recurrence, he was tried on long acting tramadol 100 mg taken one a day. He underwent a 3rd injection after which his pain relief has continued beyond 12 months. He continues to be fully functional and is able to take part in normal physical activities.
A 66-year-old independently functioning woman presented to the emergency room with an episode of midepigastric and left sternal chest pain. Her medical history included hypertension, hyperlipidemia, glaucoma, and multiple previous episodes of chest pain similar to her current episode that necessitated three separate coronary angiograms which showed no stenotic or occluding lesions in the coronary arteries. The patient described her chest pain as a sensation of burning that started suddenly at 11 pm in the night while she was resting comfortably at home after having dinner. The pain was mild in intensity, nonradiating, and lasted for a few minutes before resolving spontaneously. She denied having any dyspnea, palpitations, dizziness, or loss of consciousness during this episode. She had no history of smoking or illicit drug use. Her home medications included felodipine extended release 5 mg once daily, isosorbide mononitrate extended release 30 mg once daily, atorvastatin 80 mg once daily, losartan 100 mg once daily, hydrochlorothiazide 25 mg once daily, and metoprolol succinate extended release 100 mg once daily. The patient activated emergency medical services immediately after onset of her symptoms, who brought the patient to the emergency room. On arrival in the emergency room, the patient was asymptomatic. Her vital signs were as follows: blood pressure of 168/46 mmHg (right arm, supine position), heart rate of 66/min, respiratory rate of 19/min, and an oral temperature of 97.9 F. An electrocardiogram was obtained which showed a normal sinus cardiac rhythm with a left bundle branch block, possible left ventricular hypertrophy, and T wave inversions in the lateral leads. No ST segment changes were noted (). There were no prior electrocardiograms available for comparison. Her laboratory data included a cardiac troponin level of 0.15 ng/ml. Follow-up cardiac troponin levels obtained 6 and 12 hours later were 4 ng/ml and 9 ng/ml, respectively. The patient continued to be asymptomatic during this time, and a follow-up EKG showed no changes compared to the first EKG (). Her blood pressure, however, continued to remain high during her time in the emergency room with a peak blood pressure recording of 195/43 mmHg. Based on the elevated troponin level up to 9 ng/ml with the absence of ST segment changes on the EKG and the significantly elevated blood pressure, it was decided to admit the patient to the cardiac intensive care unit for treatment of a hypertensive crisis with elevated troponin levels possibly due to a type 2 myocardial infarction. She was given a loading dose of aspirin 325 mg and clopidogrel 300 mg orally and was started on an intravenous heparin drip at 12 units/kg/hour. A onetime dose of hydralazine 5 mg was administered intravenously which was followed by an improvement in the blood pressure to 150/46 mmHg. An echocardiogram was ordered with DEFINITY which showed a small left ventricular cavity with apical hypertrophy, an impaired relaxation pattern during left ventricular diastolic filling, and a left ventricular ejection fraction of 76–80%. The patient subsequently underwent a coronary angiogram the next day through right femoral artery access which showed normal left main, left anterior descending, left circumflex, and right coronary arteries with no stenotic or occluding lesions (). A cardiac left ventriculogram was done by cardiac chamber catheterization during the procedure, which confirmed the echocardiographic finding of apical hypertrophy (). Based on the finding of apical hypertrophic cardiomyopathy, it was decided to start the patient on metoprolol succinate extended release 100 mg daily and verapamil sustained release 180 mg daily. The remainder of the patient's hospitalization was uneventful, with an optimally controlled blood pressure and a downtrend in her cardiac troponin levels, and she was subsequently discharged on the 3rd hospital day.
A 28-year-old man was admitted to our hospital because of a motorcycle trauma involving his right upper limb. Three years earlier, the patient had reported a type-1 floating elbow injury to the same limb from a motorcycle accident. The former lesion was treated at a different hospital by ORIF of both humerus and forearm fractures. In details, the comminuted intercondylar fracture was treated by two reconstructive plates on the medial and lateral columns of the distal humerus, along with interfragmentary screw fixation. The radial shaft fracture was treated by a six-hole plate with screws, whereas a tension band wiring was performed to stabilize the ulnar fracture. Radial head resection was also carried out (Fig. ). Following this procedure, the patient obtained a painless elbow although the range of motion (i.e., 40° of extension, 90° of flexion, and 40° of forearm’s pronation/supination) and limb strength were reduced.\nThe patient refused further operations to improve articular range of motion, thus living with this function for 3 years prior to the second high-energy trauma to the elbow.\nWhen the patient was admitted at our emergency room, the physical examination showed bruising, severe soft tissue swelling, and gross deformity of the right elbow and forearm. He complained of tingling in his forearm and inability to carry out active movement of his right hand. The neurological examination showed severe tactile hypoesthesia and paresis of the muscles in the radial and ulnar nerve territories. No anomalies in the arterial pulses were detected. The patient also reported facial soft tissue injury and non-nasal midfacial fractures. The radiographic examination showed a supracondylar fracture of the humerus and midshaft fractures of the radius and ulna. Thus, according to Simpson and Jupiter [], a type-3 floating elbow injury was diagnosed. In detail, a fracture of the humerus close to the most proximal screw occurred, the ulna had a fracture distally to the former fracture with an intermediate third fragment, while the radius sustained a fracture at the site of the most proximal screw (Fig. a, b). A CT scan (Aquilion 64-slice CT, Toshiba Corporation, Japan) showed integrity of the intercondylar bone, with the implants of the former operation stable (Fig. c).\nThe treatment of fractures was delayed by 3 days because of tissue swelling. A dissection of an inverted V-shaped flap of the triceps aponeurosis that was then reflected distally was the approach used for the reconstruction of the fractured distal humerus. The ulnar nerve was therefore mobilized and allowed to remain in its normal anatomical position, but it was carefully protected until the end of surgical procedure. The radial nerve was also dissected and fully mobilized (Fig. ) to avoid its improper stretching caused by muscle spreading at the time of plate positioning. The radial and the ulnar nerves were intact, and no signs of compression by the fracture fragments were noted. A dorsolateral approach to the radius and a lateral approach to the ulna were chosen for the surgical exposure of the forearm. All previous metal implants except two interfragmentary screws and two screws fixing the lateral plate to the humerus were removed. The removal of these screws was unfeasible, and therefore, the lateral plate was cut with metal-cutting saw. In the operative theater, the fractures that had occurred during the first floating elbow injury appeared completely healed. An ORIF of the humeral and forearm fractures using one Y-plate and two straight plates was respectively performed. Cable wires were used to stabilize the third ulnar fragment. The postoperative period was uneventful, and the patient was encouraged to start exercising the shoulder and the hand the day after surgery. The elbow was immobilized in a plaster cast for 3 weeks to limit active movements. Rehabilitation of the elbow was then begun. Clinical and roentgenographic follow-up controls were performed at 1, 3, 6, and 18 months. A functional assessment was made using the Liverpool Elbow Score (LES) that had been previously validated and tested for its internal consistency []. The LES includes a nine-item patient-answered questionnaire and six surgeon-oriented items, with a total score ranging from 0 (worst) to 10 (best). The patient’s fractures partially consolidated within 3 months and radiological evaluation 1 year after surgery showed the union of all fractures (Fig. ). At 18-month follow-up, the LES score was 5.72 and the patient had reduced but painless elbow range of motion compared to the opposite side (Fig. ). The elbow showed 90° of flexion and 45° of extension, the pronation and supination of the forearm were 55° and 45°, respectively, and the palmar grip strength, when measured with a static strength tester (CSD 300 Chatillon—Ametek Inc., Florida), was 50% with respect to the uninjured side. Electroneuromyography revealed progressive improvement in the radial and ulnar nerves since the sixth-month follow-up examination, but at the final evaluation, residual reduction of electrophysiological parameters compared to normal values was recorded in the ulnar nerve territory. The patient was satisfied with the functional result and refused to undergo further surgery to improve the elbow motion. For the present case report, the patient was informed that data concerning the case would be submitted for publication and gave his consent.
A 31-year old female patient attended to rehabilitate her maxillary right canine site. Her temporary canine was lost recently; the site was edentulous because the deciduous canine was impacted. She was wearing a provisional appliance and wished a fixed solution. Radiographic examination showed that the impacted canine was close to the alveolar ridge (Fig. ). For esthetic reasons, the patient vigorously refused to consider the orthodontic path prescribed by previous practitioners. The classical surgical approach was then explained; it consisted in removing the impacted canine, grafting the area and placing an implant after 6 months of healing and again waiting for the same amount of time. She was desperate for a shorter and less invasive solution.\nTo meet the needs of the patient, an alternative non-invasive protocol was then proposed; it was relying on a previous case that has been successful during 6 months until the canines were removed [,]. It was stressed that would this treatment fail, she would go for the conventional way at no additional cost. The patient accepted to cope with the risk.\nA large diameter tapered implant was planned (NT Osseotite, Ø 5 x 15 mm, 3i, Palm Beach Gardens, FL, USA). The impacted site was drilled following the manufacturer recommended drilling sequence, i.e. with the Ø 3.25 drill (Fig. ), the Ø 4 mm and Ø 5 mm. The Ø 6 mm drill was also used over the coronal half of the osteotomy; the aim was to hope keeping away the dental implant from direct contact with the root of the impacted canine. The coronal portion of the crown was totally removed and the implant was placed (Fig. ). Primary stability was achieved at implant seating but the palatal side was left with a bone defect; it was then filled with Bio-Oss® (Geistlich AG, Switzerland), a bone substitute of bovine origin. The gingiva was sutured over the implant.\nA 80-year old men attended with a failing mandibular tooth-supported prosthesis. The panoramic radiograph showed that all teeth needed extraction; in addition an impacted premolar was found (Fig. ). The impacted premolar was horizontal and the level of impaction was classified as level C [], i.e. the crown of the impacted tooth was beneath the root apices of the adjacent teeth. Impaction was not associated with a pathological image on the CT scan sections. The patient was seeking a global prosthetic solution in the mandible.\nImplant simulation showed that there was no way for the implants to avoid encroaching upon the impacted premolar. It was explained to the patient that the conventional treatment would require extraction of all the remaining teeth, removing invasively the globulous impacted premolar and grafting the created major bone defect. Implants would be placed after a healing period of 6 months. In addition, wearing a temporary prosthesis was strongly dissented for at least 8 weeks in order to protect the grafted sites. The patient asked for a shorter and less invasive alternative.\nA non-invasive 2-step solution was therefore discussed. It was proposed to extract all teeth but the canines and place 5 implants; 2 of them would be encroaching upon the impacted premolar in sites WHO # 32 (ADA # 23) and # 34 (ADA # 21). During the 3 months required to achieve implant stability, the canines would support a provisional bridge. At the 2nd-stage surgery, the canines would be extracted and 2 more implants would be placed in the extraction sites. The provisional bridge would be then further prepared to rely on the 5 integrated implants and the 2 newly placed ones.\nEventually, 3 out of the 7 implants did encroach upon the impacted premolar; all achieved primary stability. Implant at site WHO # 34 (ADA # 21), crossed the premolar root (Fig. ), its apical extremity was in contact with bone. At site WHO # 33 (ADA # 22), the implant apex was kept within the impacted crown without contacting bone (Fig. ). Implant at site WHO # 32 (ADA # 23) had its distal side in contact with the cuspidal edge of the crown (Fig. ). Implants were Osseotite Certain Ø 4/5 x 13 mm, full Osseotite NT Ø 5 x 11.5 mm and Ø 4 x 13 mm, respectively.\nA 85-year old women attended to rehabilitate her atrophic edentulous maxilla. The root of an ankylosed impacted canine was found outcropping the crest on the right side. Bone grafting has been previously performed to receive implants (Fig. ). The angulated root canine was occupying a position of strategic importance for implant placement. It was decided to maintain it in order to host an encroaching implant with sufficient primary stability. Implant simulation showed that at least 50 % of the implant surface would be in contact with bone. Nine implants were placed in position WHO # 11, 12, 13, 14, 16, 17, 21, 25, 26 (ADA # 2, 3, 5, 6, 7, 8, 9, 13, 14) and left to heal in a submerged way for 6 months (Fig. ).
A 34-year-old G6P4024 initially presented with symptomatic abnormal uterine bleeding and severe dysmenorrhea of three years duration. Based on her evaluation, which included a detailed history, pelvic exam, and ultrasound, endometriosis and adenomyosis were suspected. She had attempted medical management with multiple regimens including combined oral contraceptives, megestrol acetate, and tranexamic acid without resolution of symptoms. She had completed her family planning after four uncomplicated vaginal deliveries and two spontaneous abortions. Given that her quality of life was impaired to a significant degree, she opted for definitive surgical management and a laparoscopic hysterectomy was planned.\nHer medical history was remarkable for anxiety, depression, and endometriosis. Previous surgical interventions included removal of a right breast lump, cholecystectomy with removal of a benign liver mass, and laser ablation of extensive pelvic endometriosis. She had no known drug allergies. She denied history of abnormal cervical cytology or sexually transmitted diseases. Her BMI was 39.1 kg/m2, and physical exam was remarkable for lower abdominal pain and mild tenderness to palpation. Exam and vitals were otherwise within normal limits. An endometrial biopsy was performed as part of her evaluation, and it revealed proliferative endometrium with no hyperplasia or malignancy. Preoperative laboratory values were unremarkable ().\nShe underwent a total laparoscopic hysterectomy, bilateral salpingectomy, and excision of deeply infiltrating endometriosis from the right pelvic sidewall. General anesthesia was induced with propofol and maintained with desflurane. She was in the dorsal lithotomy position on a gel pad with both arms tucked. The operation was uncomplicated. For laparoscopy, the abdomen was insufflated with carbon dioxide gas to a pressure of 15 mmHg. The total operating time was 172 minutes, out of which approximately 100 minutes were in the Trendelenburg position at an angle of 21 degrees. The estimated blood loss was 75 mL. She received approximately 1400 mL of crystalloid solution during the case.\nAfter surgery, the patient was transferred to the PACU for recovery. She reported feeling somewhat groggy, as well as moderate right shoulder discomfort. Her vital signs remained within acceptable range. Upon arrival to the surgical floor, approximately 4 hours postoperative, she became increasingly distressed, complaining that she was unable to see. A stroke code was activated, and she was immediately evaluated by the on-call neurology team. At this time, she reported no perception to light. She described only being able to “see” a white wall. Her physical exam revealed normal strength and sensation in all extremities. Cranial nerves II-XII were intact. No focal neurologic deficits were found, and her pupils were equally reactive to light bilaterally. Optokinetic nystagmus was present. A stat CT of the head and neck was ordered and was negative for acute hemorrhage or ischemia.\nHer visual symptoms remained unchanged overnight. The next morning her laboratory values were within expected range (). She underwent a contrasted MRI of the brain which showed orbits within normal limits () and an incidental finding of a 5 × 3 mm eccentric nonenhancing intrasellar cystic lesion in the left pituitary gland as well as scatter foci of T2/FLAIR signal hyperintensities in the subcortical and deep white matter of bilateral frontal lobes read as nonspecific findings in patients with chronic migraines. The radiologist acknowledged that the evaluation of the orbits was somewhat limited secondary to orthodontic hardware.\nThe patient was evaluated by the ophthalmology service. Their examination revealed a normal range of motion in both eyes, and pupils were equally round and reactive to light. Tonometry demonstrated a normal intraocular pressure of 18 mmHg in the left eye and 13 mmHg in the right. The lenses were clear, maculae flat, and periphery was within normal limits bilaterally. Her acuity of vision remained classified as no light perception. Outpatient follow up with neuroophthalmology and an inpatient psychiatry consult were recommended. They suggested a diagnosis of intracranial vs. factitious disease.\nThe psychiatry service examined her on the third day after surgery. Based on their evaluation, they could not rule out an organic cause for the blindness and recommended further evaluation by neurology and ophthalmology. They noticed some symptoms of anxiety and started her on duloxetine 20 mg daily.\nOver the following days, her vision remained unchanged. She continued to describe a white wall and was unable to detect motion or light. Otherwise, she met all appropriate postoperative milestones from a gynecologic perspective. Her vitals remained stable, and she was afebrile. Surgical pain was minimal, and laparoscopic port sites remained clean, dry, and intact. She was ambulatory with assistance and was voiding without difficulty. Laboratory values also remained stable. Given recent postoperative status, inflammation markers were not obtained. A bilateral carotid Doppler was ordered on postoperative day 5 to evaluate for a possible embolic source or stenosis, but this was negative. She was able to sign her name on a piece of paper and touch her index fingers together when prompted to do so. On postoperative day 7, given that her vision was not improving, a steroid taper trial was discussed. She was counseled on the potential risks and the fact that there was no clear evidence of a steroid responsive condition. After agreeing to proceed, she received IV methylprednisolone for 3 doses separated by 6 hours each, tapered from 60 mg, to 40 mg, then 20 mg. She reported feeling “eye heaviness” during this time, but no changes in vision.\nThe following morning (postoperative day 8), she reported that she was able to perceive certain changes in light. This was confirmed on exam, where she was able to tell if a flashlight was moving in-front of her eyes. At this point, her visual acuity had improved to light perception only. During the night, the patient reported her vision had spontaneously returned. Acuity was blurry, but she was able to identify objects and movement. She was discharged later that day with instructions to follow up in a week.\nAt her postoperative visit in clinic, she noted that her vision continued to improve after discharge and was now resolved to her baseline. Her uncorrected Snellen eye exam was 20/63 for her left eye and 20/50 for her right.
A 48-year-old woman presented with a one-month history of cough. She had no complaints of sputum, chest pain, or dyspnea, but she had a suspicious history of hemoptysis. She had never smoked. She had a dog in her childhood and she also lived in the rural area. Her physical examination was normal. No abnormal signs were observed on her chest radiograph. Pulmonary function tests and laboratory test results were within normal limits except for eosinophilia and minimally elevated D-dimer in the blood test. D-dimer level of the patient was 600 ng/mL, while normal limits are 0-500. A negative D-dimer result may exclude pulmonary embolism, but there are many reasons that cause D-dimer elevation such as infection, trauma, deep venous thrombosis, and disseminated intravascular coagulation. In this case, the reason of elevated D-dimer was parasitic infection. The patient was treated with 250-mg fluticasone dry powder twice daily in an inhaler and montelukast once daily under a suspicious diagnosis of allergic asthma; she asked for a control examination 2 weeks later. At the control examination, she still complained of coughing. Thoracic computed tomography (CT) was performed to investigate the etiology of cough and her minimally elevated D-dimer level. Filling defects were observed inside the left main pulmonary artery, upper segmental branch of the lingular artery, and segmental and subsegmental branches of the lower lobe artery on her thoracic CT angiogram (-). This finding at the main and superior branch of the lingular artery showed continuity with an 18 × 16 mm nodular opacity considered likely to be a cystic embolism. The right pulmonary artery and its branches were clear. Subcutaneous low-molecular-weight heparin anticoagulant therapy was administered on the basis of the suspicious diagnosis of pulmonary thromboembolism. Left and right ventricular parameters on echocardiographic evaluation were normal. Systolic pulmonary artery pressure was 25 mm Hg. No intracardiac thrombi, or any thrombosis in the deep veins of the lower extremities were observed. Clinical and radiological findings were not completely compatible with thromboemboli. Because pulmonary artery filling defects appeared more well-circumscribed and smooth, and they showed continuity with an 18×16 mm nodular cystic opacity different from usual features of emboli, the other reasons such as pulmonary artery sarcoma and hydatid cyst causing filling defects in the pulmonary artery on CT were investigated. So for assessment of the other differential diagnoses, the patient underwent endobronchial ultrasound (Olympus EvisExera II CV180). An anechoic cystic area was visualized inside the left pulmonary artery (). We performed endobronchial Doppler ultrasound to investigate whether it was a cystic lesion that was causing the filling defects inside the pulmonary artery. Doppler ultrasonography revealed a cystic formation that made the vascular filling defect inside the left pulmonary artery. Thoracic magnetic resonance angiography was performed to investigate the cyst in more detail and it revealed cystic formations in the left pulmonary artery (-). MRI scans revealed the findings of hydatid cysts. The lesions were hyperintense both on T1-W and T2-W MRI images that showed the liquid within the cyst was rich of protein. On MRI examination, either distal branches of the pulmonary artery were not filled with contrast and showed cystic lesions in them. The nature was the same in the lesions on the proximal branches of the pulmonary artery. Indirect hemagglutination and specific IgE tests were performed to confirm the diagnosis of hydatid cyst; both results were positive. Anticoagulant therapy was stopped, and albendazole treatment was initiated. The patient was scanned for frequent locations of organ involvement of hydatid cysts, but no other cysts were observed. We consulted with cardiovascular surgeons for surgery. The cardiovascular surgeons suggested thoracotomy and embolectomy, but the patient refused the operation. The diagnosis of pulmonary artery hydatid cyst was decided by the patient’s history of living in an endemic area, thoracic CT, MRI and EBUS findings and also positive serology tests. Both proximal and distal lesions in the pulmonary arteries had the same nature. So anticoagulant therapy was stopped and albendazole treatment was administered to the patient. There was no complaint of coughafter one year follow-up visits. The size of the cyst in the left pulmonary artery on control thoracic CT scans shrunk 7.9 mm in diameter after one year of albendazole treatment ( and ). Albendazole therapy was continued for 2 years.
A 57-year-old man underwent laparoscopic radiofrequency ablation of unresectable hepatocellular carcinoma under general anesthesia. He was on a waiting list for liver transplantation because of hepatitis-C-related end-stage liver failure. Signs of portal hypertension, malnutrition, and a severe restrictive pattern on spirometry were the significant findings of his preoperative clinical status. At preanesthesia evaluation, the patient referred that he had had a fixed dental prosthesis for many years. He reported no trouble masticating or any irregular motility of the dental arch. This three-element fixed bridge of metal alloy with resin front beat was made of two crowns on the natural roots of the left lateral incisor and right central incisor. On oral inspection, the patient was classified as Mallampati II; no predictive signs of difficult intubation were reported. Other specific conditions of dental work were not documented in the anesthesiological chart. General anesthesia was induced with propofol and a nondepolarizing muscle relaxant. In order to maintain satisfactory blood oxygenation, face mask ventilation with Guedel cannula was performed before tracheal intubation. Due to the reduced lung compliance, tight adherence of face mask and high manual compression pressure on the reservoir bag were necessary to guarantee an adequate inspiratory flow. Repeated forceful manual insufflations were applied before laryngoscopy. Laryngoscopic inspection and glottis view were not as easy as expected; as a consequence, tracheal intubation was not immediate. While leveraging the laryngoscope against the upper dental work, the artificial prosthesis detached from its position and dropped into the oral cavity. It was not seen during tracheal tube placement; however, the laryngoscopic view was quite restricted. Immediately after securing the airway, the visible parts of the oral cavity were accurately inspected but the bridge was not found. The digital exploration which followed was also fruitless.\nTo exclude the possibility that the bridge had slipped into the tracheobronchial tree, a tracheobronchoscopy was performed but nothing was found in the main airways. The next step consisted in direct visualization of the nasopharyngeal opening and the oropharynx by a fiber-optic nose endoscopy via both nostrils, but the prosthesis was still not found. A subsequent fiberoptic inspection of the esophagus and the stomach was also unsuccessful in locating the bridge. The upper abdomen X-ray, performed next in order to exclude a hidden dislocation within the stomach, was also futile. While other possible exams were considered, such as lateral and AP X-ray of head and neck, further meticulous manual “sweepings” of the mouth were performed, and by moving the first and second fingers below the soft palate deep towards the posterolateral wall of the pharynx, feeling consistent with a dental prosthesis was detected in the right pharyngeal recess. Multiple unsuccessful attempts at digital removal of the prosthesis followed. Only after pulling the palatopharyngeal arch upward was it possible to grasp it and extract it out with the aid of a Magill Catheter Introducing Forceps. At the emergence from anesthesia, the patient did not complain of soreness of the gums but he did complain about the lost prosthesis, as was expected. Before discharge from the recovery room, he was informed of the way the damage occurred and was offered a dental consult. The consulting dentist noted a complete avulsion at root portion () and provided a brief description of the dental lesion and detached dental work.\nBoth the anesthesiologist's and the dentist's reports were included in the incident reporting record which was sent to the Legal Medicine Department and then to the Hospital Insurance Company. After “processing” the clinical case, a few days after discharge, our patient received a formal letter from the Hospital Insurance stating that the full cost of a new bridge would have been covered.
Our patient is a 54-year-old Caucasian woman with congenital renal hypoplasia, who chose not to be transplanted and has been on dialysis for 37 years.\nHer dialysis treatment started on acetate dialysis, followed by bicarbonate dialysis, and hemodiafultration was performed in the last 25 years, with high surface, high flux dialysers, in keeping with the policies of the French school [, ].\nDuring her many years on dialysis, she underwent partial paratyroidectomy in 1989 and reintervention 10 years later; she suffered from carpal tunnel syndrome, one of the main markers of dialysis related amyloidosis, and surgery was performed in 1999 and in 2002. She also underwent a partial mastectomy for the presence of an in situ carcinoma in 2003, cholecystectomy in 2010 and excision of sigmoid polyps in 2013.\nIn spite of good dialysis efficiency and tolerance on thrice weekly, high-flux hemodiafiltration, the presence of increasingly severe osteoarticular pain, with progressive reduction of motility mainly of the shoulders and hips, has been a growing complaint in the last 10 years. Carpal tunnel surgery suggested the presence of clinically evident beta-2 microglobulin related amyloidosis for at least 15 years.\nWe chose PET scan for following our patient on account of its potential to evaluate the inflammatory component, which we believed was at least partially related to pain; our initial hypothesis was that a reduction of inflammation could explain the antalgic effect of doxycycline [, , ].\nThe image shown in Figs. and , suggests the presence of diffuse, metabolically active deposits, specifically in the settings of intense pain (hips and shoulders). The pattern is consistent with diffuse periarticular hyperfixation on shoulders and hips. The metabolic activity is moderate, as witnessed by a standardised uptake value (SUV) of 2.99 on shoulders and 3.40 on hips.\nLow-dose doxycycline (100 mg at lunchtime) was started, with good tolerance and no side effects; no other drugs/medications were changed during this period. The patient’s usual treatment consisted in 1 g/day of calcium carbonate; 0.5 mcg/day of 1–25 OH vitamin D; 20 mg/day of folic acid; 100,000 units/month of 25-OH vitamin D; 20 mg/day of esomeprazole; 25 mg/day of amitriptyline; up to 4 g/day of paracetamol in case of pain. The patient’s dialysis schedule was not modified (hemodiafiltration, 4 h three times per week, blood flow 300 mL/min, dialysate flow 700 ml/min; highly permeable membrane 2.1 m2) and dialysis efficiency was stable (range during the period: KtV Daugirdas-2: 1.65–1.80; normalised-PCR: 0.9–1.0 g/Kg/day). Anemia was corrected at the target (haemoglobin 11.3–12.2 g/dL, as was acidosis, with predialysis HCO3 22–24 mEq/L and the patient’s calcium/phosphate balance was acceptable, with moderate hyperparathyroidism (PTH ranged from 250 to 520 pg/mL)). No other signs of inflammation were present, with a normal C-reactive protein at 5/6 monthly biochemical profiles, while the relatively low albumin levels (3.0–3.3 g/dL, were interpreted as linked to the chronic losses on high flux hemodiafiltration).\nWithin 1 month from the start of treatment with doxycycline the patient reported initial pain relief (from 7 to 8 to 6–7 on a 0–10 analogic scale), which persisted and further improved at 6 months (decreasing to 4–5 on a the same scale). Consequently, she was able to reduce her doses of antalgic medication from about 4 to 1 g/day of paractetamol and to almost entirely discontinue other occasional pain relievers.\nInterestingly, a second PET scan, performed 6 months after the start of doxycycline, was showed an increase in metabolic activity on the peri-articular level, in the absence of relevant metabolic changes, and without any increase in acute phase reactants. The SUV increased from 2.99 to 4.02 on shoulders and from 3.40 to 4.19 on hips (Figs. , ).
A 29-year-old woman was referred to us with a progressive syndrome. There was no neurological disease in her family; however, there had been no contact with her biological father since his mid-thirties. She had been born at term with no perinatal insult, hypoglycaemia or jaundice. Her early developmental milestones had been normal and she had attended a mainstream primary school. She rode horses and competed in dressage events.\nHer problems started at secondary school during which she acquired the label of ‘cerebral palsy’. She fell behind her peers and needed extra educational support in class. She developed problems with concentration and mobility. Her mother noted that she moved her head down when she had to look down, and that she needed to raise objects to eye level to examine them. She became unsteady on her feet but could still walk unaided. At aged 15 years, she moved from secondary school to a facility to provide life skills training for adolescents with special needs. She could read and write at this stage and began to work as a shop assistant.\nOver the next few years, she developed posturing of her right foot and fidgeting movements of her mouth, face, arms and legs. She had no difficulties with stiffness, sensory problems, bladder or bowel issues. Her balance worsened and she began to fall. Her speech was stuttering but she remained independent. She became increasingly unsteady and depended more on her mother for support. She acquired a wheelchair. Her speech regressed from being able to talk in sentences to only being able to say a few words.\nAt the age of 22 years, she presented to her local neurology department with nocturnal generalised tonic-clonic seizures. She had clusters of seizures for every few months and was initially treated with sodium valproate; this was subsequently withdrawn following deteriorating cognition and balance, and levetiracetam started. She became seizure-free after 2 years on 1000 mg daily. Episodes of head drop also started at the same time as the seizures. These occurred after laughter and recovered in seconds. The episodes of head drop decreased at the same time as the seizures were managed. She had no excessive daytime sleepiness, night terrors, dream recall or sleep paralysis. At age 28, she developed swallowing difficulties and started a soft diet. Her mood was stable and there were no obvious symptoms to suggest depression or psychosis.\nOn examination when aged 29, she was alert and responsive. She had an asymmetrical grimace of her face and involuntary movements of her face, arms and legs (, for examination see online ). Her speech was slow. She took a few steps with the help of two people but was very unsteady and had dystonic posturing of her arms and legs. She had a vertical supranuclear gaze palsy and a full range of voluntary horizontal eye movement. Horizontal saccades to target and command were slow. There was no spasticity and her reflexes were normal with downgoing plantar responses. Sensation was normal. Her Addenbrookes Cognitive Examination gave a total score of 24/100 with impairments in all domains: attention and orientation 6/18; memory 2/26, fluency 2/14; language 10/26; visuospatial 4/16. She had a normal systemic medical examination and had no organomegaly. Slit lamp examination in the eye department was normal.\nShe had a mild iron deficiency anaemia. Her normal or negative blood investigations included renal, liver and thyroid profile, C-reactive protein, erythrocyte sedimentation rate, anti-nuclear and related antibodies, immunoglobulins, serum protein electrophoresis, HIV, syphilis and a blood film for acanthocytes. Serum caeruloplasmin, amino acids and very-long-chain fatty acids were normal. Urinary acylcarnitine profile and organic acids were normal.\nMR scan of brain showed progressive cerebellar and corpus callosum atrophy over 7 years (). Cerebrospinal fluid (CSF) studies showed normal cells, protein and glucose (plasma 5.2 mmol/L, CSF 3.6 mmol/L) and negative DNA PCR for Tropheryma whipplei. ECG was normal. EEG at 29 years showed slow transients with spike components in the temporal regions but no seizure activity.
A 67-year-old man who was a former tobacco smoker (100 pack-year history) presented to our oncology clinic following a diagnosis of Stage IIIa NSCLC. He had a past medical history significant for ulcerative colitis, which was well-controlled on balsalazide with no recent flares. He was initially noted to have a lung nodule on a surveillance computed tomography (CT) scan for abdominal aortic aneurysm. A positron emission tomography (PET) scan was done, which demonstrated a metabolically active right lower lobe lesion measuring 9.1 x 3.9 centimeter with an extension to the hilum. Enlarged right paratracheal lymph nodes were also noted be metabolically active. He underwent endobronchial ultrasound guided fine needle aspiration of the mass and mediastinal lymph nodes. Results were consistent with squamous cell carcinoma with metastases in the lymph nodes. The pathological diagnosis was T3N2M0 stage IIIa squamous cell lung carcinoma. PET scan at the time did not demonstrate any evidence of extra thoracic metastatic disease and therefore he was advised to undergo neoadjuvant chemotherapy followed by restaging of mediastinum for consideration of curative surgical resection. The patient was deemed to be of good functional status and started on paclitaxel, carboplatin. After a single course of chemotherapy, he was hospitalized with near fatal sepsis. He was treated with intravenous (IV) vancomycin and Zosyn, followed by levofloxacin to complete a fourteen- day course. Following his recovery, his case was discussed at our institutional tumor board and given the severe toxicity and low likelihood chemotherapy would make him operable, the patient was started on a course of concurrent chemoradiation. He tolerated this treatment well until the end of his six-week course when he developed febrile neutropenia and was found to have C. difficile colitis. He was treated with IV cefepime, followed by Augmentin to complete a ten-day course as well as fourteen days of oral vancomycin. CT scan during this hospitalization showed a new liver lesion, which was proven by biopsy to be metastatic squamous cell carcinoma.\nHe was subsequently started on immunotherapy nivolumab 3 mg/kg every two weeks. Two weeks following his first nivolumab administration, the patient was noted to have a platelet count of 1000/μL (previously 188,000/μL) as well as petechiae on his arms and legs. His platelet count was repeated in a citrate tube and confirmed on peripheral smear. His hemoglobin and white blood cell count remained unchanged compared to prior laboratory results. Based on his severe thrombocytopenia, he was admitted to the hospital urgently that same day. On arrival, he was hemodynamically stable. Physical exam was notable for petechiae across his chest and extremities as well as bullae in his oral cavity. Given the acute drop in his platelet count and recent immunotherapy exposure, he was diagnosed with a rare ir-AE, known as nivolumab- induced ITP. Platelet-associated immunoglobulin G antibody levels (PAIgG) were not measured. He was initially started on IV steroids and received three doses of IV immunoglobulin (IVIG). His platelet count had increased to 37,000/μL. At this point, the patient was switched to oral prednisone. However, his platelet count decreased to 18,000/μL. He was then started on weekly rituximab and after three doses, his platelet count recovered to 150,000/μL.\nFollowing platelet count recovery, the patient was enrolled in our clinical trial and started on an antibody-drug conjugate as treatment for his advanced NSCLC. One week after receiving his first dose, he was readmitted to the hospital for neutropenic fever and respiratory distress. He was treated for pneumonia as well as suspected radiation pneumonitis. Despite treatment, his respiratory status worsened and after a goals of care discussion with his family, the decision was made to pursue comfort measures. Unfortunately, the patient died fourteen days following hospital admission.
A 35-year-old female was diagnosed with type I DM at the age of 9 years. During childhood her DM was poorly controlled and the patient gained significant weight. At the age of 25 years her weight was 105 kg with a body mass index (BMI) of 40 kg/m2 and her renal function started to deteriorate with progression to requiring hemodialysis by age 30. With development of renal failure, secondary hyperparathyroidism was noted. Due to her obesity, she was not eligible for a renal transplant or a SPK. At this point it was decided to offer her bariatric surgery, and, after extensive discussion, it was felt that a RYGBP was the best option for her in terms of weight loss. At the age of 32 years, she underwent uneventful robotic-assisted surgery; the stomach remnant was attached to the abdominal wall for potential future access.\nOver the next 2 years she lost 60 kg and underwent SPK during which the donor duodenal segment was diverted to a bowel loop distal to her Roux loop implant site into the common channel. Induction immunosuppression with alemtuzumab was followed by maintenance with tacrolimus (trough levels 5-7 ng/mL), mycophenolate-mofetil (2 g daily), and a steroid taper. She was CMV seronegative and received a graft from a CMV positive donor and received standard prophylaxis with oral ganciclovir (GCV) for 100 days. Within 100 days posttransplant, she was readmitted to the hospital with acute CMV disease, which was successfully treated with intravenous ganciclovir.\nShortly after this episode the patient was found to have skin lesions on her right leg, which were diagnosed as calciphylaxis. Her serum calcium at that time was 14 mg/dl and the diagnosis of tertiary hyperparathyroidism was made. A three-and-a-half-gland resection together with subtotal thymectomy was done without any complications; the left lower parathyroid gland was the only normal appearing and half of it was preserved taking care that blood supply remained intact. Intraoperative parathyroid hormone levels dropped from >1500 to 150. Calcium serum levels within 24 hours postoperatively were 9 mg/dl with ionized calcium of 3.5 mg/dl. She was discharged in good condition within 24 hours postoperatively with daily calcium supplementation of 4.5 g/day divided into three doses.\nDuring the following week her calcium levels started to drop and on day 10 postoperatively at an outside hospital serum calcium was found to be critically low at 5.5 mg/dl with an ionized fraction of 2.1 mg/dl. However, the patient had remained clinically symptom free. She was admitted for intravenous calcium replacement. Pushes of calcium were unable to appropriately raise her calcium levels and, therefore, a calcium drip (85 mg/h) was started. Her calcium levels came up to 7.1 mg/dl. Oral calcium dose was raised to 15 g/day and hydrochlorothiazide was started. The calcium drip was stopped and the patient was discharged home in good condition.\nIntense calcium supplementation was continued. Gradually the patient's gastrointestinal tract started to adapt and after two years her calcium levels started to stabilize. She has not experienced any additional complications from her transplant or gastric bypass. She is currently alive with excellent function of both grafts, normal calcium levels, stable weight, and an excellent quality of life almost five years after her last surgery.
A 17-month-old boy was admitted to the Department of Neurosurgery, Children’s University Hospital in Cracow due to aggravating problems with balance. Starting a week earlier, the parents noticed that the boy had a tendency to tilt the head to the right and would choke when drinking. Neurologic examination found the following deficits: cerebellar disturbances of balance illustrated by the boy’s staggering and inability to walk, compulsory tilting of the head to the right, slight right pyramidal hemiparesis, left VI and VII cranial nerve palsies, bulbar signs demonstrated by choking, weak pharyngeal and palatal reflexes, and a suspected lesion in the visual field which could not be confirmed due to the child’s lack of cooperation. Computer tomography (CT) and magnetic resonance imaging (MRI) revealed an enormous tumor (44 × 35 × 45 mm in CT and 35 × 36 × 32 mm in MRI) in the brainstem, mostly in the left pons and medulla oblongata (Fig. ). The tumor was hyperintense in T2 and showed heterogenous contrast enhancement in T1 with narrowing of the fourth ventricle (Fig. ). There were no features of supratentorial hydrocephalus in spite of evidence of elevated pressure in the posterior fossa. The state of the child was unstable and the risk of its marked worsening due to operation was high. Even the biopsy bore a significant risk. As a result, the parents, after meticulous consideration of the pros and cons, did not give consent to neither an operation nor biopsy on assumption that the child would receive chemotherapy, which was immediately introduced. Consecutively, the child was transferred to the Department of Pediatric Hematology and Oncology, Children’s University Hospital in Cracow. Further diagnostics did not reveal any other foci of disease. Based on the clinical picture and neuroimaging, a malignant glioma of the brainstem was tentatively diagnosed and chemotherapy was introduced accordingly with two cycles of cisplatin, etoposide, and vincristine, and one cycle of cyclophosphamide, etoposide, and vincristine. Two months after first admission, the child showed signs of ataxia and decreased muscle tone. Soon, the child’s condition abruptly worsened with severe vomiting and a forced retroflexed position. Repeated MRI revealed enlargement of the tumor (52 × 50 × 54 mm) and supratentorial hydrocephalus due to compression of the cerebral aqueduct with transudation (Fig. ). The hydrocephalus was treated with implantation of a ventriculo-peritoneal shunt, and chemotherapy with irinotecan and carboplatin was introduced. The hydrocephalus remitted but the child relentlessly deteriorated as the tumor continued to enlarge and died 3 months after hospitalization.\nAn autopsy of the brain performed at Department of Pathology, Children’s University Hospital, revealed an enormous tumor inside left cerebellar hemisphere partially occupying the pons and also expanding to the midbrain. The tumor distorted the whole brainstem and cerebellum, pushing aside and compressing the fourth ventricle, but definitely not originating from it (Fig. ). This confirmed the previous MRI findings of a primary brainstem tumor (Fig. ). On cross section, the tumor showed uniform consistency, slightly lower than the normal brain tissue. The tumor had well marked borders with a smooth transition into adjacent apparently normal tissue.\nMicroscopic pictures represented a very conspicuous pattern with relatively paucicellular neuropil-like background with numerous and rather evenly distributed cellular densities populated with small undifferentiated cells (Fig. ). Rosettes formed another characteristic element of the tumor (Fig. ). Neuropil zones, in contrast to the cellular zones, showed immunopositivity to synaptophysin (Fig. ). Both in cellular zones and neuropil zones, there were scattered characteristic rosettes, totally negative to synaptophysin (Fig. ) but strongly positive to vimentin (Fig. ). The rosettes had an “empty,” homogenous core, but frequently with a delicate eosinophilic contouring reminiscent of ependymoblastic rosettes, though somewhat more delicate than those occurring in typical ependymoblastoma (Fig. ). The rosettes were also weakly positive for glial fibrillary acidic protein (GFAP) and for S100 protein (Fig. ). However, in neuropil zones, there were cells present with the immuno- and morphophenotype of astrocytes (GFAP+ and some S100+). Moreover, outside of the rosettes, synaptophysin-positive mature neuron-like cells were noted (Fig. ), and some were even strongly positive for synaptophysin, in spite of resembling astrocytes (Fig. ). Ki-67 expression was high but limited to rosettes (Fig. ) and cellular zones especially around the vessels. No areas of frank necrosis or any “pathological” forms of endothelial proliferation were noted. However delicate vessels were numerous, frequently surrounded by undifferentiated cells that do not conform to the description of “perivascular formations” or pseudorosettes.
A 40-year-old female patient underwent liver transplantation in February 2016 for cirrhosis secondary to nonalcoholic steatohepatitis. The patient's additional comorbidities included hypertrophic cardiomyopathy managed by myomectomy in 2013, hypothyroidism on replacement, Type II diabetes mellitus (controlled, HbA1c 5.4 g/dl), and chronic kidney disease (baseline creatinine 1.2 mg/dl). Her immunosuppressive regimen in the immediate posttransplant period included tacrolimus, mycophenolic acid, and prednisone. In July 2016, a diagnosis of possible tacrolimus-related posterior reversible encephalopathy syndrome was made on the basis of clinical and radiologic findings, and her immunosuppression was changed to everolimus-based therapy. In October 2016, the patient underwent liver biopsy, which showed severe acute cellular rejection and was managed with high-dose steroids and thymoglobulin. The patient was transitioned to cyclosporine for persistent clinical evidence of rejection.\nIn November 2016, the patient was admitted to Intensive Care Unit (ICU) for the management of adult respiratory distress syndrome and septic shock related to Legionella pneumophila pneumonia. Her ICU course was complicated by respiratory failure, including failed extubation, requiring more than 10 days of ventilatory support, acute on chronic renal failure requiring CRRT, and worsening graft dysfunction requiring up-titration of immunosuppression. Propofol was used as the primary sedating agent along with opioids. She was continued on cyclosporine, which required aggressive up-titration due to subtherapeutic levels.\nOn day 13 of her ICU stay, the patient had issues with her CRRT filter clotting multiple times during the day shift, despite heparin infusion at set rate of 500 units/h with an activated partial thromboplastin time (aPTT) goal of 50–70 s. The anticoagulation was initially ordered for right radial artery thrombus but had helped prevent the patient's CRRT circuit from clotting until day 13. The patient's aPTT was stable between 48 s and 64 s and was therapeutic at the time of clotting on day 13. Due to the change in patient's response to propofol, in addition to the continuous 5 days of propofol infusion, a TG level was obtained and was found to be 3745 mg/dl. Six months prior, the patient's TG level was 156 mg/dl. Her filter and circuits were changed and propofol was discontinued. That evening, the patient had further clotting, and the bedside nurse noticed a change in color of the line and filter []. Her repeat TG level was found to be 3865 mg/dl with normal lipase level. She was also found to have rising serum potassium of 5.8 mmol/L, serum bicarbonate of 20 mmol/L, and pH of 7.2. Adjunctive therapy with intravenous insulin at the rate of 0.1 units/kg/h and heparin at the rate of 500 units/h was initiated, and the patient was planned for emergent therapeutic plasma exchange (TPE). TPE was initiated within 6 h of nonfunctioning CRRT circuits through the patient's hemodialysis vascular access [] using 5% albumin as replacement fluid and a citrate anticoagulant to whole blood ratio of 10. CRRT was able to be resumed with a new filter following TPE and her acid–base balance and electrolytes normalized. She remained on heparin infusion at 500 units/h.\nDespite being off of propofol in the days after, the patient continued to have elevated TG levels up to 708 mg/dl, with increasing serum lipase levels (peaking at 240 mg/dl) and complaints of abdominal pain concerning for pancreatitis. She subsequently required two additional TPE sessions, on day 16 (TG decreased from 708 to 186 mg/dl) and day 21 (TG decreased from 499 to 212 mg/dl) to maintain goal TGs <500 mg/dl. The patient was continued on cyclosporine with escalating doses due to persistent subtherapeutic serum levels and liver graft dysfunction. Both cyclosporine and underlying liver dysfunction were suspected as the culprits for her recurrent and persistent hypertriglyceridemia. She was also started on oral fibrate and fish oil as preventive measures to avoid pancreatitis. Approximately 8 weeks after the patient first required TPE for hypertriglyceridemia, she underwent combined liver–kidney transplant. She received propofol for sedation intraoperatively and remained on cyclosporine postoperatively. Immediately following the second transplant, her TGs level was 154 mg/dl, the lowest it had been since her baseline level months prior. Her TGs level has remained well-controlled despite continued use of cyclosporine.
This 80-year-old male had a past medical history of colon resection with chemotherapy in 2000 and a stroke in 2005. In 2006, he had L3, L4 and L5 lumbar decompression and instrumentation for lumbar stenosis. He did well until 2009 when he developed low back and bilateral leg pain, more on the right. He had a magnetic resonance imaging (MRI) scan showing adjacent segment disease at L2-L3 with stenosis. He underwent a second lumbar surgery with an extension of the previous L3-L5 instrumentation to L2 with supplemental lateral mass bone fusion. He continued to complain of severe to moderate pain on a continual basis after which he elected to have an epidural neuromodulator placed in 2010. He developed an infection at the battery site and it was removed in 2011. From 2011 to 2018 he has multiple lumbar steroid injections for pain control and was taking opioids daily with only temporary relief. He then underwent a second implantation of a neuromodulator and his leg pain resolved, but shortly after that, he began complaining of upper low back and lower thoracic pain that was constant and different from his previous lumbar fusion pain. The area of pain was localized under fluoroscopy and found to be centered at the T12 and L1 spinal segment above the previous fusion and instrumentation at L2. When computerized tomography (CT) scans from early 2017 were compared to 2018 there were worsening vacuum changes within the T12 fracture as well as in the disc space at T12-L1. When reviewed with neuroradiology, it was felt that the vertical fracture line involving the anterior inferior one-third of T12 extended into the inferior endplate of T12, and connected to the T12-L1 interspace as well (Figure ).\nDetailed comparison of each coronal and axial CT reconstruction slice from 2018 clearly demonstrates the marked progression in the osteonecrosis along the T12 anterior fracture clearly connected to the T12-L1 interspace (Figure ).\nAfter detailed review of the different films with the patient, it was felt that stabilizing the fracture and T12-L1 disc space would be appropriate. He did not want to consider any further open instrumentation but agreed to percutaneous placement of cement along the fracture and into the disc space. It was also decided to use CortossR cement (Stryker, Kalamazoo, Michigan, USA) which is both bioactive and has more fluid-like flow characteristics rather than denser polymethylmethacrylate bone cement (PMMA). It was felt this would allow the cement to flow better into the fractures and bone defects.\nTechnical steps of the procedure\nThe procedure was divided into four different steps (Figure ). The patient was placed in a prone position with mild sedation and local anesthesia. First, fine 20-gauge spinal needles we placed to mark the pedicles at T12 and L1. Next from the left side, away from the vertical fracture 2 cc of non-ionic contrast were injected with a 22-gauge needle into the T12-L1 disc space to document if it communicated with the vertical fracture. Under fluoroscopy, the contrast could be seen passing form the disc space into the vertical fracture line of T12 establishing the fracture and disc were connected. Second, an 11-gauge vertebroplasty cannula was introduced into the left T12-L1 disc space (Figure ). A fine curette was passed through the cannula to the T12-L1 disc space to further open the communication (Figure ) and then 1.4 cc of Cortoss cement was injected, which slowly flowed from the disc space into the base of the fracture (Figure , ). Third, to guarantee filling of the vertical part of the fracture on the right side, another 11-gauge vertebroplasty cannula was introduced through the pedicle of T12 and advanced under fluoroscopy until the fracture line was encountered (Figure ). The softness and gap of the fracture could be clearly felt and then a bone drill and curette were passed to open the space allowing another 1.4 cc of Cortoss to be injected into the vertical fracture (Figure ). Finally a cannula was introduced into the L1-L2 interspace where there was additional osteonecrotic changes and an additional 1.4 cc of Cortoss cement was injected to L1-L2.\nThe patient tolerated the procedure without problems and noted a significant decrease in the pain level in the recovery room. The three-month and six-month follow-up has continued to demonstrate resolution of the upper lumbar and lower thoracic pain with resumption of his activities. A follow-up CT scan was performed three months after the procedure to document exactly the position of the bone cement relative to the fracture and the progressive vacuum changes both in the T12-L1 disc space and the vertical avulsion fracture. The follow-up CT scan shows there is scattered cement placement both in the fracture and the T12-L1 disc space but the large vacuum cleft and especially the tract connecting the spaces are filled with cement (Figure ).
A 76-year-old Chinese male presented to the emergency department with a 12-hour history of acute central and lower abdominal pain which was constant and colicky in nature. He denied any nausea or vomiting; he had opened his bowels normally that morning and was still passing flatus. He was noted to be at postoperative day 28 following laparoscopic radical left nephrectomy. This was performed for a mass found in the upper pole of the left kidney and was completed via a transperitoneal approach.\nHe is a lifetime nonsmoker and denies regular alcohol consumption. He is fully independent and still works as a taxi driver. His past medical history includes a D1 duodenal ulcer with a recent admission for upper gastrointestinal bleeding. He also takes regular medication for hypertension, hyperlipidaemia, benign prostatic hypertrophy, and gout.\nOn presentation to the emergency department he was afebrile and had a blood pressure of 156/69 and a heart rate of 87 beats per minute. On examination he had a soft abdomen with central tenderness and no guarding. Hernial orifices were normal and on digital rectal examination the rectum was empty and no masses were palpable.\nInitial abdominal X-ray showed no dilated bowel loops and the working diagnosis was adhesion colic in view of his recent operation. Within 24 hours of admission a contrast enhanced CT scan was performed in view of clinical deterioration, rising lactate, and worsening metabolic acidosis and acute kidney injury. At CT the findings were small bowel obstruction, suggestion of 2 transition points in the left hemiabdomen (distal ileum and duodenojejunal flexure), and no evidence of ischaemia ().\nAn emergency exploratory laparotomy was performed after review of the CT findings. Findings at laparotomy included almost complete small bowel herniation up to distal ileum through a descending colon mesenteric window. There were 2 transition points. The first was at the distal ileum at the point of herniation; the second was 40 cm from the duodenojejunal flexure where the jejunum was adherent to the retroperitoneum at the site of the left nephrectomy pedicle. There were omental adhesions noted to mesh in the right inguinal region consistent with previous laparoscopic transabdominal preperitoneal inguinal hernia repair. The small bowel was distended but healthy and the colon was healthy.\nThe operative procedure consisted of reduction of the small bowel through the mesenteric window and division of jejunal-retroperitoneal adhesions. An inadvertent enterotomy was made at the adhesion site causing some peritoneal soiling. The small bowel was decompressed through the enterotomy site and after resection of a short segment of jejunum a functional end-to-end stapled anastomosis was made.\nPostoperatively the patient was treated with intravenous antibiotics for a presumed aspiration pneumonia thought to have been caused by vomiting during induction of anaesthesia. He was managed for postoperative ileus which resolved on postoperative day 4 and was discharged from hospital on postoperative day 12. The patient was readmitted on postoperative day 25 and managed conservatively for ileus. CT of the abdomen and pelvis on admission showed a 2.3 × 3.6 × 6.6 cm abscess in the left retroperitoneal region abutting the psoas muscle (). The abscess was treated with intravenous antibiotics and percutaneous drainage withheld as clinically the patient improved and ileus resolved. He was discharged on postadmission day 7. Interval CT of abdomen and pelvis shows reduction in the size of the retroperitoneal abscess.
A 23-year-old man (weight 65 kg, height 175 cm, and BSA 1.8 m2) with a diagnosis of primitive right atrial enlargement from foetal age was referred to our Centre for cardiological evaluation. Cardiac examination showed increased heart size on percussion and a grade II/VI Levine systolic murmur. No significant pathological findings were found on pulmonary examination. Electrocardiography showed a regular sinus rhythm with a rate of approximately 60 beats/min associated with an abnormal morphology and duration of P wave (enlargement of P wave with duration of 130 msec), together with a low amplitude of QRS complexes in the limb leads. All routine laboratory studies were within normal limits. Chest radiography showed an abnormal cardiac silhouette with increased convexity in the lower half of the right cardiac border and cardiomegaly ().\nTransthoracic two-dimensional echocardiography demonstrated a huge right atrium of about 6.2 cm and a volume of 230 ml/m2, with a thick smoke pattern and mild tricuspid regurgitation. The pulmonary arterial pressure was normal (). The tricuspid valve was normal without significant annular dilation. No stenosis or abnormal displacement of the tricuspid valve leaflets was detected. No significant regurgitation of the tricuspid valve was found despite a partial distortion of the anterior leaflet and compression of the right ventricle inflow. The right ventricle appeared small and compressed anteriorly by the right atrium (area of RV: 11 cm2).\nCardiac magnetic resonance imaging showed a marked right atriomegaly (right atrium area: 66.50 cm2, volume: 220 ml/m2) and normal size of the left atrium (left atrium area: 7.02 cm2). The right ventricle was regular in size and global contractility but was partially compressed and dislocated posteriorly, due to the massive enlargement of the right atrium. The left ventricle was regular in dimension, thickness of the wall, and global/segmental contractility (FE VS = 61%). No evident transvalvular jets or areas of late gadolinium enhancement were found. The pericardium was visualized without focal abnormalities or pericardial effusion ().\nDue to the high risk of arrhythmias and thrombus formation in the right atrium, which is a potential risk for pulmonary embolism, the patient underwent cardiac surgery. Through a median sternotomy, cardiopulmonary bypass was established with standard aorta and bicaval cannulation. After the pericardium was opened, the entire anterior surface of the heart was found to be covered with a thin wall in continuity with the right atrium. No atrial appendage as such was apparent. The right atrium was fully opened. The inferior border of the atriotomy was sewn around the anterior part of the tricuspid annulus, and the superior border was brought over the lateral wall of the right atrium as a flap and sewn near the interatrial groove. This provided adequate reduction of the atrial size and reinforcement of the atrial wall ().\nThe histology of the resected atrial wall showed focal hyperplasic areas of smooth muscle cells with polymorphic nuclei surrounded by a few scattered areas of hypertrophic fibrous tissue.\nPostoperative transesophageal echocardiogram showed a significant reduction of the right atrium area (23 cm2, volume: 93 ml).\nThe patient was extubated 11 hours after surgery. Complications arose postoperatively with the early appearance of pericardial effusion with leukocytosis and elevated inflammatory markers. This was resistant to conventional medical therapy, which in the end required surgical drainage. Medical therapy of the postpericardiotomy syndrome (ibuprofen 600 mg/TID and colchicine 1 mg/OD) was continued over the subsequent 6 follow-up months without further recurrence of pericardial effusion.
A 75-year-old female patient presented to tertiary referral academic hospital, Harare Central Hospital, from a provincial hospital with a 2 week history of pain and darkening of all her fingers and toes. A month prior to visiting hospital she developed a constant rest pain in her hands and feet. The pain was exacerbated by manual work and was not relieved by analgesia. She highlighted intermittent episodes of severe pain in her hands and feet occurring over the last 1 year. Her fingers and toes became dusky in appearance, and this was associated with blistering of the fingers and toes. The patient highlighted sensory loss in her fingers and toes. There was no history of intermittent claudication. The patient did not drink alcohol or smoke, and she had no known chronic illnesses. There was no family history of diabetes mellitus, hypertension, heart disease, dyslipidemias, and connective tissue disorders. The patient did not admit to a history of eating mouldy grain or bread. In the review of systems, she did not have any history of chest pain or palpitations. The patient did not have any history of headaches, seizures, or hallucinations. The past medical history was insignificant. She was negative for human immunodeficiency virus (HIV) and was not on any medications.\nExamination of the patient at the referral center revealed she was fully conscious, and not in any apparent distress. She had a normal pulse rate of 90 beats per minute, with a normal blood pressure (systolic reading of 128 mm Hg and diastolic of 59 mm Hg). She had a pyrexia of 37.8°C with no lymphadenopathy. There were no Janeway lesions or Xanthoma on examination. The cardiac, respiratory, and abdominal examinations were normal. On examination of the hands, the patient had dry gangrene of all the fingers of the hands which had demarcated. She had very good peripheral pulses in the upper limbs. In the lower limbs, she had dusky hyperpigmented toes. All the peripheral pulses in the lower limb were present and full volume. See Figure\nThe complete blood count on admission showed a raised white cell count of 16.1 × 109/L, with a low hemoglobin of 11.6 g/dL. Her renal function and lipid profile were normal. A random blood sugar done on admission was within normal limits. A chest x-ray and electrocardiogram (ECG) were done and were normal. An echocardiogram (Echo) was done as part of her workup, and she had a structurally normal heart with no thrombi and a good ejection fraction of 67%.\nFluid resuscitation was commenced with intravenous crystalloid solution and empiric antibiotics therapy with her pyrexia settling on the third day after admission. Her toes demarcated as dry gangrene by day 3 postadmission. The patient was consented for amputation of the gangrenous parts of her hands and feet. Amputation of the digits of her fingers was done with transmetartasal amputation of her feet done bilaterally. The surgery was uneventful. Two weeks after the initial surgery, the patient had split skin grafting to cover the bare amputation sites with excellent uptake of the grafts. See Figure . Pathological evaluation of amputated tissue did not report any vasculitis. There were microthrombi in the small vessels with sparing of the large caliber vessels.\nShe was discharged home 5 days after split skin grafting. The patient underwent physiotherapy and occupational therapy sessions at her local hospital to assist with rehabilitation and mobilization. On review 1 month later, all her wounds had healed and the patient was well with no complaints.
A 40-year-old male who complained of pain in the right inguinal region underwent abdominal ultrasonography, which revealed a 6-cm sacciform tumor in the right lower abdomen. The patient had no medical history including surgery, trauma, or inflammatory disease, and he was referred to our hospital for further evaluation. Enhanced computed tomography (CT) showed continuity between the cystic tumor, which measured 66 mm×72 mm, and the right external iliac vein (EIV) (). Further, vascular ultrasonography indicated that the mass was a section of the ectatic vein. The mass was diagnosed as a right EIV aneurysm without stenosis or obstruction of the proximal flow. Although the patient did not present with any symptoms, 99mTc-macroaggregated albumin scintigraphy revealed a pulmonary thromboembolism in the inferior lobe of the right lung. Venography revealed a large saccular aneurysm of the EIV with flow stagnation (), whereas arteriography of the common iliac artery did not indicate any sign of an arteriovenous fistula. Preoperative anticoagulant treatment with warfarin was initiated, and aneurysmectomy was recommended to prevent disastrous complications, such as massive pulmonary embolism and rupture.\nOne month after the aneurysm was diagnosed the patient underwent resection to treat the right EIV aneurysm. With the patient under general anesthesia, the aneurysm was exposed via a retroperitoneal incision in the right lower quadrant (). The aneurysm did not adhere to the surrounding tissue and did not have feeding vessels. The border between the normal venous wall and the aneurysm was easily detectable. An abnormal venous wall occupied more than one-third of the circumference of the vein; therefore, compared to venorrhaphy, patch plasty was considered suitable to preserve the lumen. Following the intravenous administration of heparin (7,000 U), the proximal and distal portions of the aneurysmal sac were clamped, and longitudinal venotomy was performed. The excess vein wall was resected and did not show an adherent mural thrombus. The vessel wall was reconstructed using a saphenous vein graft patch taken from the opposite side, and sutured with continuous Nespylen 6-0 thread using the parachute technique. After the clamps were released, the patch was wrapped in the remaining wall of the aneurysmal vein (). On histopathological examination, the three layers of resected venous wall were preserved and did not display signs of inflammation or fibrosis.\nAfter the 8-h surgery, anticoagulation was started with intravenous heparin: 15,000 U/day, with activated partial thromboplastin time (APTT) of 36.2 s. However, on postoperative day (POD) 1, bleeding from the retroperitoneal drain was aggravated, and anticoagulation therapy was stopped. After a 2-day intermission period, on POD 3, heparin was re-started along with warfarin. Ascending venography, which was performed on POD 6, revealed that the right EIV was completely occluded and there was good collateral flow into the common iliac vein without thrombosis in the vein below the inguinal ligament. On POD 13, venous ultrasonography revealed a hyperechoic thrombus of the EIV alone, which indicated organization and a lower risk of thromboembolism. The patient remained asymptomatic and was discharged on POD 14. Throughout the hospitalization period, the patient did not use either elastic compression stockings or an intermittent pneumatic compression device because we were apprehensive about promoting bleeding due to increased venous pressure.\nAt the 1-month follow-up interval, the patient appeared to be in good condition, ultrasonography did not show the development of a thrombosis, and there was no change regarding thrombotic obstruction in the right EIV. The patient performed manual labor and requested that the anticoagulant therapy be discontinued due to apprehension about trauma. Subsequently, anticoagulant therapy with warfarin was stopped because the risk of thromboembolism was considered to be low.
A 31-year-old woman with no significant past medical history presented to our emergency department complaining of a constant headache for the previous 4 days. The headache had begun approximately 6 h after receiving epidural anesthesia for labor. The documentation from the anesthesia service that day reported the use of a 17-gauge Touhy needle to enter the subdural space in the lower lumbar spine and the placement of a 19-gauge epidural catheter. No complications were reported with the procedure, and specifically, there was no mention of inadvertent dural puncture. The patient had an unremarkable delivery of a healthy infant at 38-weeks gestation later that day.\nThe patient described the headache as constant and occipital with some radiation to the frontal area. The headache was worse when upright and partially relieved in the supine position. She reported taking acetaminophen/butalbital/caffeine and ibuprofen with little relief. She had no associated vomiting, fever, or changes in her hearing or vision. She denied any photophobia or focal weakness or numbness. She was afebrile on physical exam, with pulse and blood pressure within the normal range. Her exam was notable for a normal neurologic exam including cranial nerves and no neck stiffness. The patient was tentatively diagnosed with a PDPH. After evaluation by the anesthesia service, she was admitted for pain control and possible placement of an epidural blood patch the next day. A computed tomography (CT) scan of her head was obtained prior to admission to evaluate for other possible causes of the headache (Fig. ). This CT identified bilateral parafalcine subdural hematomas measuring 7 mm in thickness on the left and 3 mm thickness on the right. There was no associated mass effect.\nThe patient was admitted to the intensive care unit and started on levetiracetam for seizure prophylaxis. Neurosurgical consultation advised observation, and a repeat CT scan of the head the next day showed no significant change in the hematomas. The patient also received an epidural blood patch the next day with no improvement in the headache. A head CT performed on hospital day 3 showed a decrease in the size of the hematomas, and the patient was discharged on levetiracetam for seizure prophylaxis for 1 week.\nISH occurring after dural puncture is extremely rare. Only sporadic case reports and a few small case series have described this condition [–]. Any procedure that results in spinal dural puncture will theoretically predispose to the development of an ISH. ISH has been described following epidural and spinal anesthesia, as well as lumbar puncture, myelography, epidural steroid injection, and after implantation of an intrathecal drug delivery device and a spinal cord stimulator [–]. The incidence of ISH specifically caused by epidural anesthesia used in obstetric practice has been estimated to be 1:500,000 [].\nThe same mechanism has been postulated for both PDPH and ISH []. The leakage of cerebral spinal fluid (CSF) from the dural puncture site may continue for several weeks, causing reduction in CSF volume []. This results in lower intraspinal and intracranial pressure, leading to relative ventricular collapse and caudal movement of the spinal cord and brain. As a consequence, the dura, pain-sensitive structures, cranial nerves, and subdural bridging veins are stretched. This may ultimately result in a tear of the bridging veins and consequently an ISH. Risk factors associated with ISH after dural puncture include excessive CSF leakage from multiple punctures in large needle use, pregnancy, coagulopathy, cerebral vascular abnormalities, dehydration, brain atrophy, and alcoholism [–].\nThe duration of time from dural puncture to the diagnosis of ISH ranges widely from 4 h to 29 weeks []. In one case series, 37% of cases were diagnosed within 1 week of dural puncture, and 85% were diagnosed within 1 month []. A headache, most often diagnosed as PDPH, is the main presenting symptom [, –]. Other reported symptoms and signs present at the time of diagnosis are listed in Table [, , ]. Reported rates of surgical intervention for ISH after dural puncture vary from 9 to 80% [, , ]. In general, surgical intervention for ISH is indicated if the hematoma thickness exceeds 10 mm, there is a midline shift of greater than 5 mm, or there is neurologic deterioration []. Furthermore, some have advocated for the use of epidural blood patching in the treatment of ISH caused by dural tears resulting in chronic CSF leaks [, ]. A full recovery is reported in over 80% of patients, with death reported in 7–10% of cases [–].\nHeadache in the postpartum period is common, occurring in 39% of women []. The majority of these headaches are benign primary headaches, such as migraine and tension type []. Secondary headaches in the postpartum period are typically due to obstetric or anesthetic complications, or the hypercoagulable state after delivery (Table ). Our patient was initially misdiagnosed as having PDPH, similar to many previous reports of this condition. PDPH is defined as a headache that develops within 5 days of dural puncture that significantly worsens soon after sitting upright or standing and improves after lying horizontally []. PDPH is more likely to occur in young women of low body mass as compared with other patients []. An epidural blood patch is considered the gold standard for treatment of PDPH, with a success rate of 70–90% []. Over 85% of patients report resolution of PDPH within 6 weeks regardless of treatment [].\nThe incidence of ISH after dural puncture is probably underreported since many of these patients are treated as PDPH with the eventual resolution of their symptoms. When to obtain brain imaging studies in the assessment of a likely PDPH is unclear. A reasonable approach would be to consider imaging in patients that (1) have a postural headache lasting more than 1 week, (2) do not improve or have worsening of their headache after an epidural blood patch, (3) report a change in the headache from postural to non-postural, or (4) develop other neurologic signs or symptoms with the headache [].
An 80-year-old man was referred to our hospital for syncope caused by severe AS. Twelve years previously, he had undergone CABG that comprised bypass grafting of the left internal thoracic artery (LITA) to the left anterior descending coronary artery (LAD) and of the saphenous vein from the ascending aorta to circumflex branch. He had also undergone pericardiectomy for constrictive pericarditis 10 years prior to the surgery. Unfortunately, the details of the surgical procedure and findings were unknown because the surgery for pericarditis was performed at another hospital. Preoperative computed tomography indicated that the pericardium around the aorta and right-sided left atrial area were almost intact. However, severe adhesion appeared to be present from the anterior to diaphragmatic aspects of the heart. Echocardiography showed severe progressive AS with moderate aortic regurgitation. Other examination data were as follows: aortic valve area of 0.6 cm2, mean trans-aortic valvular pressure gradient of 86 mmHg, bicuspid aortic valve, and left ventricular ejection fraction of 70%. Although the patency of the LITA–LAD graft was confirmed, computed tomography and coronary arteriography showed that the saphenous vein graft was occluded. We discussed the treatment strategy (TAVR or AVR) in a “heart team.” The heart team considered TAVR not to be suitable for his deformed bicuspid aortic valve. We decided to use a right parasternal minimally invasive approach, which is optimal for performing AVR to avoid median sternotomy-related injury, especially to the patent LITA–LAD graft.\nA 7-cm right parasternal incision extending from the inferior edge of the second costal cartilage to the superior edge of the fourth costal cartilage was made (Fig. a). Both the third and fourth costal cartilages were totally excised following exposure of the second and third intercostal spaces by division of the pectoralis major muscle. The right ITA was ligated immediately inferior to the second costal cartilage and immediately superior to the fifth costal cartilage. The intercostal muscles and pleura were incised. The pericardium around the aorta was intact as estimated by computed tomography, and the adhesion around the aorta was less severe than predicted preoperatively. Pericardial stay sutures were placed, providing excellent exposure of the ascending aorta. Next, the ascending aorta was exposed and controlled (Fig. b). Cardiopulmonary bypass (CPB) using the femoral artery and vein was initiated. A left ventricular vent cannula was placed in the right superior pulmonary vein, and then the patient was cooled to 28 °C. Because of severe adhesion around the right atrium, a retrograde catheter could not be inserted. We only injected antegrade cardioplegia solution after the ascending aorta was cross-clamped. Once cardioplegic arrest was obtained, ventricular fibrillation developed. Therefore, we administered 40 meq/L potassium via the CPB to maintain a blood potassium concentration of 8 meq/L. Antegrade cold blood cardioplegia was induced intermittently every 20 min. A 19-mm Mosaic pericardial bioprosthesis (Medtronic, Minneapolis, MN, USA) was implanted (Fig. c). After the patient had been placed in the Trendelenburg position, the aorta was unclamped and de-airing was accomplished through suction on the cardioplegia aortic root needle with flooding of CO2 gas in the operative field. The aortic cross-clamping time was 83 min. A ventricular pacemaker wire was placed in the right ventricle while the CPB was running, and the heart was decompressed. The patient was smoothly separated from CPB. The operation time and CPB time were 348 and 158 min, respectively. Immediately after surgery, the absence of ischemic damage to the myocardium was confirmed based on the serum creatine kinase MB concentration and electrocardiography findings. Echocardiography also showed normal movement of the left ventricle. The postoperative course was uneventful, and the patient was discharged on postoperative day 7.
A 60-year-old female smoker with a remote history of renal cell carcinoma (RCC) presented with an enlarged right paratracheal lymph node. The clinical differential was reactive lymphoid hyperplasia, granulomatous inflammation, or metastatic carcinoma from the lung or kidney. The DQ-stained smears from the EBUS FNA showed irregular clusters of cells with abundant cytoplasm containing some vacuolization and round-to-oval nuclei with occasional nucleoli []. In addition, some clusters appeared to be associated with transversing small blood vessels. Upon closer examination, a few cells with nuclear pleomorphism were noted, including cells with large prominent nucleoli and binucleation [ inset]. The ROSE diagnosis was atypical and the diagnosis was deferred due to the atypical epithelioid cells present, which were felt to either represent nonnecrotizing granulomas or metastatic tumor. Additional material was submitted for cell block preparation. The immunohistochemical stains confirmed that the cells were positive for cytokeratin, vimentin, CD10, and EMA. The cells stained negative for CD68. Thus, the final cytologic diagnosis was metastatic RCC, which was confirmed on follow-up surgical excision of the lymph node.\nThis case illustrates the diagnostic difficulty, particularly at the time of ROSE, in differentiating cytologically bland neoplasms from the reactive atypia of epithelioid histiocytes in granulomatous inflammation, as illustrated in a case of sarcoidosis []. This diagnostic difficulty was highlighted in a published study looking at the intraoperative cytologic interpretation in 156 cases of granulomatous inflammation, in which 9 cases (6%) showed a clinically significant discrepancy where a neoplasm was misdiagnosed as a granuloma or vice versa. []\nThese discrepancies occur due to the variable features of granulomas and the cytologic atypia seen in epithelioid histiocytes, which can include prominent nucleoli and nuclear enlargement []. Also, the necrotic background appreciated in necrotizing granulomas can lead one to make a false positive interpretation of a neoplastic process. The cytomorphology of epithelioid histiocytes within granulomatous inflammation can also resemble sinus histiocytosis or other histiocytic processes in the mediastinum,[] spindle cells in spindle cell lesions, such as seen in a case of a spindle cell melanoma [], and germinal center cells or proliferative vascular endothelial/smooth muscle cells.[] An additional pitfall is that granulomas can be associated with a wide spectrum of entities, including benign or infectious processes and neoplastic processes, such as seminomas [], lymphomas, and metastatic carcinomas. So even if granulomatous inflammation is the predominant cytomorphologic feature of the aspirates, one should still search thoroughly for atypical cells indicative of a malignancy. In difficult cases, immunohistochemical stains can help, in that histiocytes are CD68 positive, while other tumors in the differential will usually be CD68 negative, and have their characteristic immunoprofile, as seen in this case of metastatic RCC. This case illustrates that the distinction of granulomatous inflammation from its mimics is sometimes challenging during ROSE; however, clinical history, careful examination of the cytomorphology, and awareness of pitfalls can help in accurate identification.\nIn addition to the pitfalls of recognizing granulomas, low grade RCC can be particularly difficult to diagnose in cytological specimens due to the low nuclear-to-cytoplasmic ratios of the tumor cells, abundant cytoplasm, and sometimes bland nuclear pleomorphism, which make its distinction from oncocytic lesions and reactive conditions difficult in some cases. [] For this reason, in a subset of cases, adequate material for confirmatory immunohistochemical stains is crucial in order to reach a definitive diagnosis. [] In one institution’s experience, it was reported that approximately 6% of cases had a discrepancy between the preliminary and final diagnosis, and this most commonly involved cases with a change from “nondiagnostic” or “benign” at ROSE to malignant at final diagnosis, which was partially attributed to the additional material available at the time of final diagnosis.[] Given that cell block and immunohistochemical stains are not available at the time of ROSE, examination of the cytomorphologic features is crucial. In this case, recognition of the scattered cells with large nucleoli and marked nuclear enlargement, in addition to the more well-defined cytoplasmic borders and clusters with transversing vasculature, may have led to a more definitive diagnosis in this case and potentially avoided the need for mediastinoscopy.
The index patient was a 34-year old female referred to the bariatric clinic by the general practitioner on her own request to treat her morbid obesity. She was born with a normal birth weight but large head circumference for which she never had a diagnostic analysis. At the age of five, her body weight was already significantly higher compared to her peers. No specific life events could explain her obesity. Cognitive development was normal and she followed normal education. She underwent treatment for recurrent nasal polyps. Her mother also had a large head size and suffered from morbid obesity as well. She was diagnosed with thyroid cancer and died from a pulmonary embolism after placement of an Adjustable Gastric Band. A maternal aunt was diagnosed with breast cancer before the age of 50 and the maternal grandmother died from breast cancer at young age. The younger sister of the index patient was overweight and was reported to also have a large head size (Figure ).\nSince childhood, the index patient followed several different coaching programs to change her eating behavior and exercise pattern to induce weight loss. She lost weight several times but was never able to maintain her weight loss. At the time of the intake procedure at the bariatric clinic, her height was 1.69 m (SD −0.2) and weight 164 kg (SD +6.8), resulting in a Body Mass Index (BMI) of 57.6 kg/m2 and a predominant abdominal obesity. Head size was not measured at that time since this is not part of bariatric screening procedures. Biochemical analysis of the blood revealed no abnormalities, and excluded endocrine hormonal disorders such as hypothyroidism. The fasting glucose level was 5.9 mM.\nThe combination of early onset morbid obesity resulted in suspicion of a genetic cause of her obesity. She was offered diagnostic genetic analysis of 52 obesity–associated genes to identify a possible underlying genetic obesity cause.\nThe patient was eligible for bariatric surgery and underwent a sleeve gastrectomy without complications (performed in 2014 using a standardized fashion). At 1, 2 and 3 years after surgery, she achieved a percentage Total Body Weight Loss of 39.4, 48.8 and 44.9, respectively. This resulted in a current BMI of 30.1 kg/m2. This was within the range of the results which were observed in a control group of 18 female patients, with a negative obesity genetic test result. These female patients were matched for age and BMI and achieved a percentage Total Body Weight Loss (TBWL) of 30.3 after 1 year, 31 after 2 years and 30 after 3 years of follow-up.\nA few months after surgery, the result of the obesity gene panel analysis was returned and showed heterozygosity for a known pathogenic mutation in the PTEN gene (): c.202T>C p.(Tyr68His). This mutation has been described previously in patients with PTEN Hamartoma Tumor Syndrome (PTEN HTS) (Marsh et al., ). No other pathogenic mutations were shown in the remaining 50 obesity–associated genes (Table ). At the genetic clinic, a head circumference of 63 cm (+5SD) and pedigree analysis (family history of multiple tumors) further supported the molecular diagnosis of PTEN HTS.\nAccording to the PTEN HTS guidelines, patients with pathogenic PTEN mutations are advised to visit the outpatient clinic for familial tumors, for lifelong surveillance of tumors that are associated with the PTEN mutations (Dutch Guidelines, ; Eng, ). Our patient underwent additional biochemical laboratory- and ultrasound screening to exclude thyroid gland carcinoma. Besides a few benign nodules on the ultrasound, no abnormalities could be determined. A yearly follow-up ultrasound of her thyroid gland and yearly serum thyroid stimulating hormone analysis was advised. Screening for breast, endometrium and colorectal cancer, also revealed no anomalies.
A 5-year-old girl presented to her pediatrician's office for a routine well-child visit. She was asymptomatic and developmentally normal. Parents reported that she participated in all activities but was not as active as her siblings. She was taking no medications. She had never been hospitalized or undergone surgery. Her examination was notable only for bradycardia with a heart rate (HR) of 52 beats per minute (bpm). She had normal weight, height, and blood pressure, with no evidence of thyromegaly. Both parents were healthy, as were the girl's older sister and younger brother. There was no family history of congenital heart disease, seizures, syncope, early sudden death, or family members requiring pacemakers or defibrillators.\nThe patient's ECG showed sinus rhythm at 50–60 bpm with normal PR, QRS, and corrected QT (QTc) intervals (). Due to the bradycardia, a Holter monitor was performed to evaluate her HR variability. The monitor showed sinus bradycardia with an average HR of 59 bpm and a minimum of 37 BPM. There was no atrioventricular (AV) conduction delay, and repolarization appeared normal. At rates greater than 110–120 bpm, there were frequent polymorphic premature ventricular contractions (PVCs) and bigeminy with runs of nonsustained bidirectional ventricular tachycardia (VT) at 211 BPM, suspicious for a clinical diagnosis of CPVT. Additionally, brief runs of a supraventricular tachycardia (SVT) at a rate of 220 bpm were also noted (). The parents reported that their daughter was active at these times and free of any symptoms.\nAn echocardiogram performed to assess cardiac anatomy and function revealed an overall normal appearing heart with normal LV chamber size and systolic function, but with heavy trabeculations in the LV apex, suggestive of LVNC. Cardiac magnetic resonance imaging showed similar noncompacted myocardium in the LV apex with normal LV chamber size and function and no other abnormalities. Initial laboratory testing including basic metabolic profile, inflammatory markers, complete blood count, and liver and thyroid function tests were within normal limits. The patient underwent an exercise treadmill test (ETT) to assess for inducible arrhythmias in a controlled setting. She had sinus rhythm at 55–70 bpm at rest and developed polymorphic PVCs and bigeminy at HRs greater than 110 bpm (). The ETT was terminated at 7 minutes (min) due to the complex ventricular ectopy, although the girl had no symptoms. The PVCs dissipated by 1 min of recovery, as her HR dropped below 100 bpm.\nBeta-blocker therapy was initially considered to prevent the tachyarrhythmias, but due to her profound baseline bradycardia, a class 1C sodium channel blocker antiarrhythmic medication (flecainide) was started. A repeat ETT showed no reduction of PVCs during exercise. Therefore, the flecainide was discontinued and a beta-blocker trial was started with esmolol (infusion rate of 250 mcg/kg/min). This short-acting intravenous (IV) beta-blocker was chosen, so that the medication could be discontinued immediately if her basleine bradycardia was exacerbated or the beta-blocker resulted in hemodynamic compromise. A repeat ETT showed resting sinus rates of 50–60 bpm and a peak HR of 118 bpm at 9.5 min of exercise. Rare PVCs were noted with exercise and suppressed completely at peak HRs (). Due to potential exacerbation of her underlying bradycardia with beta-blocker therapy, a dual chamber epicardial pacemaker was implanted, and she was started on a long-acting oral β-blocker, nadolol (1.0 mg/kg/day). Immediately postoperatively, she had intermittent PVCs and mild hypertension that resolved by increasing nadolol to 2.0 mg/kg/day. Prior to pacemaker implantation, there was a lengthy discussion regarding her arrhythmia substrate and possible implantable cardioverter defibrillator (ICD) placement for primary prevention. Since our patient had no history of syncope and appeared to have an excellent response to beta-blockade, the decision was made against ICD implantation for primary prevention.\nRepeat ETT, performed 6 weeks after pacemaker implantation, showed a resting sinus rate of 70 bpm and peak HR of 117 bpm at 10 min of exercise. Rare single monomorphic PVCs noted with exercise suppressed completely at peak HRs. She reported mild fatigue during daily activities, and her pacemaker was reprogrammed on for rate response to allow more physiology heart rate with daily activities. At her 5-month followup she had improvement in her fatigue and no palpitations or syncope. She continued on nadolol with exercise restrictions. Her Holter monitor showed sinus alternating with atrial pacing with good beta-blockade effect and no ventricular arrhythmias. Her echocardiogram was unchanged.\nCandidate gene testing was performed due to her history of arrhythmias. A long QT syndrome panel revealed no disease-causing mutations. A pan cardiomyopathy microarray designed to identify mutations in genes associated with cardiomyopathy and CPVT revealed three mutations: ryanodine receptor (RyR2) Arg169Gln, calsequestron (CASQ2) Asp398del, and titin (TTN) Lys4455Arg. These were all single nucleotide changes resulting in missense mutations.
A 23-year-old female with no significant past medical history presented with an acute onset of altered mental status and seizures. After stabilization, she began exhibiting hallucinations and bizarre thoughts which led to her eventual discharge to a mental health facility. She returned 72 h later with fever, tachycardia, worsening psychosis, unintelligible speech, and decreased responsiveness to external stimuli. The etiology of the fever was unclear at the time of admission. However, given her fever, tachycardia, and change in mental status, an infectious etiology was of highest concern and so she was started on broad spectrum antibiotics and acyclovir. On admission, her Glasgow Coma Scale (GCS) score was 9 and she was not alert or oriented to person, place, or time. The remainder of the neurologic examination was notable for fast unintelligible speech, inability to follow commands, and decreased responsiveness to external stimuli except pain. She initially was spontaneously moving all four extremities, had no significant cranial nerve abnormality, normal muscle tone, and 2+ symmetric reflexes bilaterally in upper and lower extremities. Imaging including magnetic resonance imaging (MRI) of her head and computed tomographic (CT) scans of her chest, abdomen, and pelvis were negative. An extensive infectious work-up was negative, however; her lumbar puncture did show a lymphocytic pleocytosis (). Continuous electroencephalogram monitoring was obtained and notable for severe generalized slowing and 2–3 Hz rhythmic delta activity with 15–18 Hz sharply contoured beta activity overlying delta activity consistent with extreme delta brushing. Additional evaluation was notable for positive serum NMDA antibodies (1:320) and CSF NMDA antibodies (1:80). Given these results, further imaging studies were completed to evaluate for teratoma, and an MRI abdomen and pelvis revealed a 6-mm right ovarian teratoma. At that time, high-dose methylprednisolone 1 g/day and plasma exchange (PLEX) were initiated. The patient was taken for definitive surgical therapy the next morning. Post-operatively, she was continued on methylprednisolone for a total of 5 days with five treatments of PLEX. She continued to decline with worsening mental status, loss of response to pain, and respiratory failure requiring intubation. GCS score at this time had now decreased to 3. She then began treatment with intravenous immunoglobulin (IVIG) for five doses. There was no response to IVIG, and both her respiratory and neurologic status remained unchanged. No testing was completed looking for genetic abnormalities or variations in her Cytochrome P450 system. Her final pathology was consistent with a mature teratoma.\nDespite initial interventions, her condition failed to improve and her serum NMDA antibodies increased to 1:1280. With the lack of clinical improvement and increasing antibody titer, there was concern for treatment failure or a potential residual teratoma. Repeat imaging including a positron emission tomography (PET)/CT was completed with negative results. Given this, she was started simultaneously on a combination of rituximab (375 mg/m2) and cyclophosphamide (750 mg/m2) 2 weeks after PLEX and IVIG were completed. Two months after rituximab and cyclophosphamide, significant neurologic recovery occurred and she became alert, oriented, and able to follow commands. In addition, she was weaned from the ventilator, regained her ability for fluent speech, and had resolution of her seizures. No relapses were noted and 4 months post-treatment, the only notable neurologic sequelae was short-term memory loss. In total, she received four cycles of rituximab and two cycles of cyclophosphamide with plans for further rituximab 6 months after the initial dose. Eventually, her NMDA antibodies decreased to a titer of 1:80.
A 37-year-old female Chinese farmer with no significant past medical history was admitted to our institution in February 2012, complaining of escape of fecal matter through several openings in her back for the past 20 years. She first developed painful soft-tissue swellings under the skin of her back in 1992 at the age of 17. These pointed and discharged fecal matter mixed with pus after 4 weeks. Within a week, the opening healed, but then reappeared 2 weeks later, only to discharge again after a few days. This cycle of swelling followed by discharge continued until free-draining fistulae formed about 1 year later. Over the next 10 years, she developed an obvious thoracolumbar scoliosis. The patient was insistent that she had no spinal deformity prior to development of fistulae. Until 2012 the patient did not receive any treatment and her discharging fistulae continued to drain feces.\nPhysical examination revealed a woman with appearances of chronic disease and an obvious thoracolumbar scoliosis. The abdomen was smooth and soft without peritonism or tenderness. Six fistulous (0.5 × 0.5 cm) openings in the skin of her back were identified with fecal soiling, surrounded by fibrous scar tissue.\nChest X-ray did not show any manifestation of pulmonary TB. Abdominal CT revealed a fistulous track in the left posterior abdominal wall, mild splenomegaly and atrophic left kidney. Despite the scoliosis, vertebral bone quality appeared normal. Pelvic computed tomography (CT) showed sporadic lymphadenopathy (1 - 2 cm in size).\nDigestive tract barium studies indicated fistulae between the colon and the thoracolumbar structures, with irregular stenotic segments of the rectum and sigmoid colon (). Fistulography showed that there were multiple fistulae connecting the bowel lumen of the proximal descending colon to the exterior of the posterior abdominal wall ().\nLaboratory investigations revealed normal tumor markers, human immunodeficiency virus (HIV) test was negative, reverse passive hemagglutination reaction fecal occult blood test (RPHA-FOBT) was positive, white blood cells (WBCs) 3.31 Gpt/L, NEUT% 74.0%, LYMPH% 13.9%, red blood cells (RBCs) 2.87 Tpt/L, and erythrocyte sedimentation rate (ESR) 23 mm/h.\nSubsequent colonoscopy confirmed colonic stenosis 30 - 35 cm from the anal margin. The colonic mucosa appeared slightly edematous with irregular hyperplasia, with no ulceration or tumorous lesion. Biopsies were taken from the abnormal mucosa and bowel wall. An opening (φ = 0.5 cm) was seen at the apex of this edematous area, with back-flow confirmed when saline was injected into the external fistulous opening (). The mucosa of the rest of the colon was normal. Histologic analysis of biopsy specimens from the abnormal mucosa and bowel wall revealed non-specific inflammatory granulation tissue. There were no malignant cells or granulomatous tuberculous features. Acid-fast bacilli were not identified.\nMicroscopic examination in both histology and microbiology laboratories had failed to identify acid-fast bacilli; however, since gastrointestinal TB (GITB) was considered high as a potential diagnosis laparoscopic surgery was performed. After extensive adhesiolysis, three sites of stenosis were identified with significantly thickened intestinal wall in the small bowel, approximately 10 - 20 cm proximal to the ileocecal valve. No small bowel resection was performed. Isolated swollen lymph nodes were found in the mesentery, one of which was sent for frozen section analysis. Intraoperatively, the descending and sigmoid colon was found to be densely adherent to the retroperitoneum surrounding a fistulous complex (5.0 × 4.2 × 2.3 cm) extending through the soft tissues dorsally containing one internal and six external openings. Methylene blue injected by catheter confirmed a clear communication between colon and the exterior. Since the intraoperative frozen sections confirmed granulomatous inflammation, resection of the left colon was performed with primary reconstruction via a manual, single-layer, end-to-end anastomosis. The fistulous complex was carefully dissected from surrounding normal tissue and excised en bloc with abnormal bowel.\nThe patient had an uneventful postoperative course. Definitive histopathological examination of the resected specimen confirmed the presence of caseating granulomas ().\nShe was commenced on standard anti-tuberculous quadruple therapy. The external fistulae gradually closed entirely over the following year. The patient returned for follow-up over 4 years. At final clinical review she presented in very good general condition: free of any symptoms related to colonic TB.
A 63-year-old Caucasian male presented with a 3-year history of ulcerating lesion involving the left cheek and parotid gland. Three years ago, he started to have slow-growing lesion arising from a nonhealing wound that occurred after a left cheek traumatic injury by a tree branch. The lesion was neglected until it started to increase rapidly in size over the last 5 months when he sought treatment. He reported associated left-sided hearing loss, weakness in eye closing, and mandibular weakness, all on the left side. He denied weight loss, trismus, or any lymphadenopathy.\nThe patient lived in California and had excessive sunlight exposure before he moved to Arkansas, where he received treatment. He has a past medical history of asthma, and cSCC of the right cheek required Mohs surgery. He reported no medications use or allergies. He denied tobacco, alcohol, or recreational drug use or any occupational chemical exposure. No history of immunocompromised status or immunosuppressive therapy reported. The patient’s mother died from colon cancer at age 46, and his brother had a history of melanoma.\nOn physical examination, there was an extensive bleeding fungating growth overlying the left cheek, extended to the left helix root and tragus [Figure –]. The lesion hung over the external auditory meatus, which was intact. The tympanic membrane was intact. There was no significant submandibular or cervical lymphadenopathy. He had pale conjunctivae. The remainder of his physical examination was unremarkable.\nThe patient was evaluated initially by a dermatologist, and his lesion biopsy showed poorly differentiated SCC. Given his extensive and high-risk SCC, he was referred to a head and neck surgeon. The computed tomography (CT) scan of the head and neck showed an extracapsular invasion in the soft tissues of the muscles of mastication and the zygomatic arch []. For the staging workup, the patient underwent a positron emission tomography/computed tomography (PET/CT) scan, which showed the giant invasive facial mass [] and interestingly showed an incidental finding of a 2.1 cm left cortical renal mass and bladder thickening [Figure and ]. The patient reported no history of gross hematuria or flank pain. On the basis of his staging workup, he was considered to have a T3, N0, and MX poorly differentiated SCC.\nThe patient was scheduled for an elective surgical resection and a reconstruction flap. His preoperative evaluation revealed increased fatigue and dyspnea with exertion, palpitations, dizziness, and lightheadedness without syncope. His preoperative laboratory data showed hemoglobin of 5.3 g/dL, mean corpuscular volume (MCV) 97.1, with normal B12, folic acid, and iron studies. He reported a long-term intermittent low-volume oozing from the facial lesion, which increased to an intermittent frank bleeding over the last 3 months. He denied hematochezia, hematemesis, hematuria, or coffee-ground emesis. Despite blood transfusion of two packed red blood cells (RBCs) units in the outpatient settings, his hemoglobin improved only to 6.5g/dL. Due to his blood loss anemia, he was hospitalized preoperatively and received another unit of packed RBCs for medical optimization before his planned surgery.\nHe underwent an excision of the left zygomatic bone, left total parotidectomy with facial nerve sacrifice, and selective left neck dissection levels of I–IV []. The reconstruction of the left facial defect was performed with an anterolateral thigh free flap with microvascular anastomosis [Figure and ]. Pathology studies showed deeply invasive squamous cell carcinoma invading the parotid gland. All the margins and excised lymph nodes were negative for cancer.\nUpon his postoperative follow-up, he was, expectedly, noted to have iatrogenic Bell’s palsy. His ophthalmology examination revealed no corneal epithelial defect and he was started on high-viscosity artificial tears. The radiation oncology team recommended adjuvant radiation therapy to the deeper structures of the operative site and he is scheduled to undergo an intensity-modulated radiation therapy (IMRT) to preserve salivary function and minimize the risk of flap failure. For his renal mass, the patient was evaluated by urology and based on the peripheral location, renal cell carcinoma was suspected. He is scheduled for percutaneous CT-guided cryoablation after recovery from the facial reconstructive surgery.
A 14-year-old female with chronic rhinosinusitis and lung disease with bronchiectasis was referred for immunologic investigation in São Paulo, Brazil. She had a history of chronic cough with recurrent wheezing since birth with prolonged use of antimicrobials for lower and upper respiratory tract infections, oral candidiasis and stomatitis. She had one episode of pneumonia and she was never hospitalized. She is an offspring of non-consanguineous parents. One of her sisters died with leukemia at the age of 9 months, and her mother experienced recurrent pneumonias and otitis media in childhood.\nAt 8.5 years of age, pulmonary symptoms worsened, bronchiectasis was detected on computed tomography and pulmonary function assessment showed mild obstructive lung disease. Cystic fibrosis and ciliary dyskinesia were excluded. She was treated with inhaled corticosteroids, azithromycin and chest physical therapy for 2 years with poor clinical response.\nImmune evaluation was performed at several time points in the period of 8.5–14.3 years of age (, ). Total lymphocyte count was grossly preserved. Immunoglobulin (Ig) levels were variable with low IgA, low to normal IgG and low to high IgM initially. By 10 years of age, laboratory evaluation showed low levels of all Ig isotypes and low CD4+ and CD8+ T cells with low fraction of CD45RA+ naïve cells and skewing to activated memory T cell phenotype. Lymphocyte proliferation was normal with mitogens but impaired with antigen stimulation (). As Ig levels decreased, treatment with intravenous Ig (IVIG) was initiated at 11 years of age (). There was no evidence of protein loss. The B cell developmental subsets were significantly skewed with a marked decline in the switched memory B cell compartment (). B cell dysfunction is also reflected by decreased total IgG, IgM, and IgA levels with increased age (). Anti-thyroglobulin and anti-thyroperoxidase antibodies were persistently positive with normal thyroid function.\nRegarding infectious complications, symptoms of respiratory infections improved on intravenous immunoglobulin G (IVIG) replacement therapy. However, recurrent candidiasis continued to occur as well as episodes of oral ulcers. At 13 years of age, she was hospitalized with bilateral pneumonia and stomatitis with positive polymerase chain reaction (PCR) for herpes simplex virus (HSV) on oral lesion biopsy. She responded well to intravenous antibiotics and acyclovir. Persistently, Epstein-Barr virus (EBV) and intermittently, cytomegalovirus (CMV) viral loads were detected without obvious clinical manifestations of lymphoproliferation or acute viral distress since 11.8 years for EBV and 13.4 years of age for CMV (). A progressive increase in CD8+ T cells, B cells (CD19+) and natural killer (NK) cells (CD16+CD56+) was noticed in the same period (). Testing at 14 years of age revealed the presence of antibodies targeting interferon-alpha (anti-IFN-α) ().\nGenetic studies using targeted sequencing of 16 SCID genes identified a heterozygous compound variant in RAG2 (c.509A > G: p.E170G and c.829insT, p.Y277fs) in the coding regions. Both components of the compound variant were novel. The heterozygous variant was confirmed by Sanger sequencing. The c.509A > G, p.E170G variant was present in the mother. The father was unavailable for study.\nBased on prediction analysis and structural modeling, it is expected that the mutated RAG2 allele with Y277fs will not contribute any recombinase activity as truncation of RAG2 further than amino acid 350 leads to a non-functioning protein that is unlikely to form any complex with RAG1 (). Mutation in the RAG2 E170 is likely important in RAG1/2 dimerization as it contacts an arginine residue in RAG1 (R561). Mutation of RAG1 R561 to histidine has been previously reported in Omenn patients and shown to have reduced DNA binding and cleavage activity, but retains some activity in vitro (). Therefore, we predicted that RAG2 E170G will perform all of the recombinase activity in the patient.\nThe relative recombinase activity of the RAG2 variants in vitro individually and in a bi-cistronic system was tested using methods previously reported (). The relative recombinase activity level of the protein expressed by RAG2 p.E170G variant was 14.2% ± 1.6 standard error of mean (SEM) whereas the p.Y227fs variant had zero activity and their combined activity was 16.2% ± 2.5 SEM in an in vitro system (). Thus, the RAG2 E170G variant solely contributed to the partial recombinase activity of the patient.\nAlthough considered, the family elected to wait with hematopoietic stem cell transplantation. Regarding donor selection, there is no matched sibling available and we await results of human leukocyte antigen testing to search for a matched unrelated donor.
The patient was a 16-year-old male with a past medical history significant for severe factor VII deficiency who presented with a several months' history of iron deficiency anemia requiring multiple blood transfusions and positive Hemoccult stool tests. His history extends back to when he was around 10 years of age and was found to have severe iron deficiency anemia also with Hemoccult-positive stool, so that he was referred to pediatric gastroenterology for evaluation. An extensive workup was done at the time that included upper endoscopy, colonoscopy, Meckel's scintigraphy, a nuclear medicine bleeding scan, and capsule endoscopy. The nuclear medicine bleeding scan showed some increased uptake in the second portion of the duodenum, but his upper endoscopy was visually normal and the remainder of his workup all came back within normal limits. Throughout this time, he was treated with multiple, repeat blood transfusions and was managed by pediatric hematology.\nAt the time of presentation, he was receiving approximately 2–3 blood transfusions per week as well as iron transfusions, but his blood work continued to worsen. His hemoglobin level had dropped to 8.6 g/dL with a hematocrit level of 27.7%. His ferritin level had also reached a low of 12.7 ng/mL with a reticulocyte count elevated at 4.5%. His Hemoccult stool tests continued to remain positive. He underwent an upper gastrointestinal barium contrast study with small bowel follow-through in anticipation of a repeat capsule endoscopy for further evaluation that was ultimately read as normal. During capsule endoscopy evaluation, it was discovered that he had a large polypoid growth in approximately the third portion of the duodenum, just proximal to the ligament of Treitz, that was actively bleeding (Fig. ). At that point, it was decided that a repeat upper endoscopy would be performed with possible enteroscopy and polypectomy. The patient was admitted to the hospital the day prior to the procedure with pediatric hematology consulted for administration of NovoSeven RT to help with bleeding control due to his factor VII deficiency. During the upper endoscopy, a large polypoid lesion was noted near the ligament of Treitz that had a notable clot from a prior bleed but no other abnormal surrounding mucosa (Fig. ). The tissue was extremely friable, and based on the size of the lesion as well as its position in the duodenum, combined with the patient's bleeding disorder, it was felt that it would be safer to remove the polyp via surgery with partial bowel resection rather than endoscopic polypectomy. The lesion was biopsied once with cold forceps and was then tattooed and the patient was given several doses of factor VII for hemostasis. The next day, surgery was consulted, and the child was taken back to the operating room for robotic resection. A small 2- to 3-cm section of jejunum near the ligament of Treitz was ultimately resected and a primary end-to-end anastomosis was created with no significant bleeding or any other complications. The bowel section was sent to pathology and the patient recovered without concerns. He was started on high-dose proton pump inhibitor therapy and discharged home on postoperative day 4. The patient had a pediatric gastroenterology follow-up appointment approximately 2 months after surgery where he was found to be asymptomatic and was eventually weaned off his proton pump inhibitor with no further follow-up recommended. His intestinal pathology came back showing duodenal mucosa with gastric heterotopia that was negative for dysplasia or carcinoma. He continues to be followed by pediatric hematology but is no longer receiving frequent blood transfusions and no longer having any significant gastrointestinal symptoms.
We report the case of a 17-month-old female toddler who presented to the University of Florida pediatric ophthalmology clinic by way of second opinion for macular scars and poor vision. The patient was born at an outside facility at 37 weeks gestation via uncomplicated vaginal delivery at 4 pounds and 7 ounces. Prenatal course was significant for chlamydia infection in mother in the first trimester, which was successfully treated with unknown antibiotics. Intrauterine growth retardation (IUGR) was noted on prenatal ultrasound. Despite IUGR at birth, no systemic or genetic workup was initiated during stay at outside hospital. The mother first noted abnormal eye movements around 3 months of age, at which time she also began to notice the child did not respond well to visual stimuli. Mother reports being assured that these findings were normal, which contributed to delayed presentation to an ophthalmologist. The mother also noted a few seizure-like episodes with generalized limb jerking. Family was eventually referred to retinal specialist in their area and were reportedly informed that the patient had retina scarring and no intervention would be helpful at this stage. Family presented to our pediatric ophthalmology clinic at the University of Florida-Gainesville for a second opinion. The child was examined under anesthesia and found to have borderline microcornea (horizontal corneal diameter 10 mm), myopic astigmatism, with extensive multifocal chorioretinal pigmented scars involving the macula and peripheral retina with fibrous vitreous strands that spread between lesions in the right eye and an extensive large macular scar extending between the arcades to the periphery in the left eye (, top). The scars appeared congenital in nature with no signs of activity seen clinically and on fluorescein angiography (, bottom) and thus our top differential diagnoses included Toxoplasmosis, Other (syphilis, varicella-zoster, parvovirus B19), Rubella, Cytomegalovirus (CMV), and Herpes infections (TORCH) and congenital hamartoma of the retinal pigment epithelium. TORCH studies returned negative with the exception of Toxoplasma IgG (immunoglobulin G) positivity >400.0 IU/mL (range: 7.1 IU/mL or less—not detected; 7.2-8.7 IU/mL—indeterminate; 8.8 IU/mL or greater—detected). On further discussion, mother admitted exposure to outside cats, but denied changing litter boxes and did not believe she consumed raw meat during pregnancy. The patient was referred to pediatric genetics, neurology, and infectious disease services. Neurology examination revealed jerk nystagmus, an increased right Achilles tendon reflex, and microcephaly (<1% head circumference). Other etiologies considered were other intrauterine infections: cytomegalovirus (CMV), rubella, Zika virus, as well as lymphocytic choriomeningitis, though exposure history did not align with the latter 2 entities. No further laboratory testing initiated by these services for various infectious etiologies yielded any positive results. Magnetic resonance imaging of the brain showed scattered supratentorial white matter calcifications and electroencephalogram revealed no seizure-like activity during monitoring (). The patient is yet to undergo other ancillary testing and services as well, including audiology testing, repeat serial IgG Toxoplasma titers on patient, serum testing and fundus examination on mother and siblings, as well as low vision therapy for the patient. There are socioeconomic and access to care issues that are contributory to the uncompleted studies and therapy in this patient’s case. The decision was made not to treat the Toxoplasma infection, given it was not active at the time of evaluation. Recommendation from other services was for ophthalmology to monitor and initiate traditional triple therapy if reactivation should occur.
The patient was a 2-year-old entire male European shorthair cat. At the time of presentation its body condition score was 4/9 and it weighed 4 kg. The owner reported an increase in volume of the mammary glands from about 10 days prior, with a progressive increase in size until the day of the visit. It was an indoor cat and had no contact with other animals. The cat had been fed a commercial dry diet, was regularly vaccinated and was negative for retroviral diseases, including feline leukaemia virus and feline immunodeficiency virus. In the patient’s medical history, no indication of any therapies was reported (steroids, antifungals, chemotherapy or progestins). There were no other clinical signs or behavioural changes.\nAll vital signs evaluated during the clinical examination were normal. Upon palpation, the axillary and abdominal breasts were warm and painful, and there was evidence of necrosis and ulceration of two of the mammary glands (). The testes were symmetrical and appeared normal, and moved freely into the scrotum. No additional checks had been performed during previous veterinary visits.\nOwing to the extent and severity of injuries, mammary neoplasia was also considered when making the differential diagnosis, as reported in the classification of the main mammary masses in cats.\nThe acute mastitis could be a secondary pathology of a form of mammary hyperplasia, considering that these diseases can occur simultaneously. Although rare in feline species, adrenal and hormone-secreting testicular tumours must be considered in the differential diagnosis, as well as the possible presence of functional ovarian tissue in the abdominal cavity.\nGeneral screening of the patient involved a complete haematological and biochemical profile, including electrolyte levels and complete urinalysis. Afterward, a series of specific tests aimed to evaluate the levels of reproductive hormones (progesterone, 17β-oestradiol and testosterone) were performed. A chest x-ray study was suggested to the owner, but this was postponed owing to the results of the other tests.\nA stimulation test with human chorionic gonadotropin (hCG) was then performed, with the aim being to increase the endogenous secretion of testosterone by the Leydig cells, so to exclude possible presence of ovariotestis, or to induce ovulation if ovarian tissue was present, resulting in the production of 17β-oestradiol and progesterone. Several protocols using hCG have been published, with variable efficacy. For the stimulation test, 500 IU hCG (Gonasi HP, 1000 IU/ml; IBSA Farmaceutici Italia) was administered intramuscularly, and 2 h later a blood sample was taken to measure the levels of testosterone and 17β-oestradiol. After 2 weeks, a second blood test was performed to measure the progesterone levels, as recommended by the manufacturer (off-label).\nAt the same time, an abdominal ultrasound was performed to evaluate the testicular structure and the adrenal glands, and to identify the presence of any functional ovarian tissue. A breast ultrasound was then performed to complete the study. The ultrasound system used was the MyLab 30 Gold VET (Esaote) with a CA123 VET micro-convex probe (8–3 MHz; Esaote).\nThe haematological and biochemical profiles and results of the urinalysis were all unremarkable. The testosterone levels before stimulation were 0.65 ng/ml (reference interval [RI] 0.05–4 ng/ml) and 7.41 ng/ml (RI 4–9 ng/ml) after stimulation. These results are consistent with normal hormone secretion by the testes and normal function of the Leydig cells.\nThe 17β-oestradiol level before stimulation was 24.2 pmol/l (RI <73.4 pmol/l) and 26 pmol/l (RI <220.3 pmol/l) after stimulation. However, the lack of response to the stimulation test cannot exclude the presence of ovarian tissue or the presence of a hormone-secreting testicular tumour, especially in cats, where it is not proven that this is a useful test.\nThe progesterone concentrations were 1.5 and 1.7 nmol/l before and after stimulation, respectively. This result allowed us to exclude the presence of ovarian tissue, as the basal RI for a male cat is 1.3–5.4 nmol/l, and the reported level post-stimulation is >6.3 nmol/l when ovarian tissue is present.\nThe ultrasound revealed testicular parenchyma of normal size and structure, and there was no presence of functional ovarian tissue in the abdominal cavity. The adrenal glands were normal in appearance and size (0.34 cm both right and left), which excluded a possible neoplasm that prevented them from producing sex hormones.\nUltrasonography of the mammary glands showed a homogeneous glandular structure with regular margins, characteristic of benign lesions, as shown in .\nA coagulation profile test was then performed as a preventive measure and normal results were obtained; a biopsy of the mammary gland was taken with the cat under anaesthesia. The cat was premedicated with 10 mg/ml methadone (Semfortan solution for injection; Eurovet Animal Health) at a dose of 0.2 mg/kg administered intramuscularly, and anaesthesia was induced with 10 mg/ml propofol (Proposure solution for injection; Merial Italia) at a dose 5 mg/kg administered intravenously. After tracheal intubation, anaesthesia was maintained with isoflurane (IsoFlo inhalational anaesthesia; Ecuphar Italia).\nA breast incisional wedge biopsy was performed, and a sample measuring 0.5 × 0.5 × 0.5 cm was taken. Two simple interrupted stitches with a non-absorbable thread (Daclon USP 3/0 EP2) were used to close the wound. The sample was placed in 10% buffered formalin and stained with haematoxylin and eosin. The histological examination showed widespread fibroadenomatous hyperplasia with proliferation of the ductal epithelium of the mammary glands, which confirmed the diagnosis of MFH ( and in the supplementary material).\nIn addition to the biopsy, an orchiectomy was performed using a routine ‘open’ technique, with two incisions directly on the scrotum. Histological examination of the testes was normal, excluding the presence of a hormone-secreting testicular tumour.\nThe presence of functional ovarian tissue was excluded after the abdominal sonography, combined with the negative response to progesterone stimulation with hCG. Excluding all possible differential diagnoses, our remaining hypothesis was accidental contact with hormone-like substances; however, no voluntary administration was reported by the owner or found in the cat’s medical history.\nAn insulin-like growth factor-1 test was performed, and the value was 100 nmol/l (RI >6.5 and <131 nmol/l; acromegaly >131 nmol/l), thereby excluding the pathology.\nTreatment for MFH began with subcutaneous administration of a progesterone receptor inhibitor, aglepristone (Alizin; Virbac), at 15 mg/kg on days 1, 2, 8 and 15. The affinity of this molecule for the progesterone receptor displaces natural or synthetic progesterones without activating the receptors.\nA broad-spectrum antibiotic was also prescribed to treat incidental infections related to the presence of necrosis and ulceration in two of the breasts. For this, amoxicillin-clavulanic acid (Synulox, palatable tablets; Pfizer Italy) was orally administered at a dose of 20 mg/kg twice daily (morning and evening) for 2 weeks. A painkiller, tramadol HCl (Ultram Altadol, soluble tablets; Formevet), was also orally administered at a dose of 2 mg/kg twice daily (morning and evening) for 1 week.\nThe cat was monitored weekly for 5 weeks to assess healing of the ulcerated breasts, control the clinical course and confirm the regression of hyperplasia. Six days after beginning the therapy, a reduction in size and change in the consistency of all mammary glands was already evident ().\nComplete remission of clinical signs was observed approximately 4 weeks later, similar to that reported in the literature (). Another follow-up was performed 3 months later, with no visible signs of disease recurrence observed ().
A 44-year-old gentleman was transferred to our specialist liver unit from a peripheral hospital with ongoing melaena on a background of alcoholic cirrhosis with portal hypertension. He initially presented with generalised abdominal pain and nausea. His haemoglobin on admission to the peripheral hospital was found to be 7.5 g/dL. His background was significant for chronic pancreatitis and subsequent type 2 diabetes mellitus. Furthermore, three years ago he developed a biliary stricture after laparoscopic cholecystectomy that required multiple biliary stents and ultimately a hepaticojejunostomy.\nPhysical examination was unremarkable except for mild pallor, palmar erythema, and moderate ascites. Routine blood tests on transfer to our unit are shown in .\nHe received multiple blood transfusions throughout his admission (eight in the peripheral hospital, requiring a further twenty-six units in our unit). He was also treated with octreotide and terlipressin due to a high suspicion of portal hypertension induced gastrointestinal haemorrhage.\nAn oesophagogastroduodenoscopy (OGD) was performed on admission to the peripheral hospital and showed mild oesophagitis and grade 1 varices. CT angiogram the following day reported no active bleeding. A repeat OGD after transfer to our unit confirmed grade 1 oesophageal varices and portal hypertensive gastropathy, with no source of bleeding identified. A CT four-phase liver examination was performed and showed a nodular liver and occlusion of the main portal vein with cavernous transformation ().\nDuring this period the patient continued to have intermittent melaena, up to four times daily, passing circa 500 mL of fresh blood. Haemoglobin levels continued to fall and dropped to 5.4 g/dL on day 10 of admission; however, the patient remained haemodynamically stable. A radiolabeled red blood cell nuclear imaging scan was performed during this period of active haemorrhage; however, the origin of bleeding remained elusive.\nThe following day a push enteroscopy was attempted using a pediatric colonoscope and was successfully passed to the jejunal loop as far as the hepaticojejunostomy. An area of mucosal erythema with prominent vessels as well as a fresh clot was seen adjacent to the hepaticojejunostomy, features consistent with an ectopic varix.\nThe case was discussed at length at our multidisciplinary team (MDT) meeting. As the option of TIPS (transjugular intrahepatic portosystemic shunt) was ruled out due to portal vein thrombosis, the feasibility of embolization for presumably ectopic variceal bleed was discussed with our interventional radiologists; however, as there was no obvious source of bleeding identified on previous scans it was difficult to decide on the optimal course of management.\nUltimately the overall consensus was that push enteroscopy could be attempted again with the intention of injecting Histoacryl into this ectopic varix at the site of the hepaticojejunostomy. Four days later the procedure was performed and the ectopic varix which was the source of bleeding was finally visualized and identified in the form of a nipple sign at the site of hepaticojejunostomy (). Due to its difficult position, the site was injected with Histoacryl and lipiodol. An X-ray of the abdomen was requested and displayed a radiopaque density in the right upper quadrant consistent with filling of the contour of the ectopic varix adjacent to the surgical clips and represented the site of injection ().\nA repeat enteroscopy was performed the following week and clearly displayed a healed ectopic varix at the site of hepaticojejunostomy with signs of injection (). Prior to discharge, management options in the case of future rebleeding were discussed at our multidisciplinary meeting (MDM). The general consensus was that while surgical intervention would be an option in the future, it would be associated with a significant risk of morbidity and mortality. It was thus decided that in the case of recurrent bleeding we would again consider endoscopic management.
A 40-year-old male patient chronically maintained on phenytoin to treat seizure disorder, was diagnosed to have pleomorphic adenoma of left submandibular salivary gland for the last 1 year. The patient presented to surgery outpatient department with a chief complaint of swelling on the left side of the neck. The patient had a history of head trauma due to fall from a train with loss of consciousness and seizures but not of any bleed from ear, nose or throat, 20 years back. The patient had undergone some head surgery (probably craniotomy). The history of surgical procedure was unreliable because of unavailability of old records. After this, the patient was prescribed tablet phenytoin 100 mg thrice a day to manage seizure disorder, and the patient has been taking the same for the last 20 years. One year back patient noticed a small pea size swelling on the left side of the neck. The swelling had been increasing gradually in size since then to reach the size of a lemon at the time of presentation with relatively rapid growth in last month. Swelling was not associated with local pain, fever, anorexia, weight loss, cough with sputum, dyspepsia, or breathlessness. Besides above there was no history of any other chronic medical or surgical illness. On examination, patient was conscious and well oriented. His pulse rate was 76 beats/min, and blood pressure was 110/70 mm Hg. There was a visible around 3 cm × 3 cm, nontender swelling present in the left submandibular region. The overlying skin was without any redness, scar, sinus, fistula, or dialated and engorged vein. The swelling was mobile in both the directions and had no intraoral extension. It was not attached to underlying muscle and overlying skin. Local temperature was comparable to rest of the body temperature. There was no facial weakness and tongue deviation. Respiratory, cardiovascular, and central nervous system examinations were within the normal limits. Hematological (Hb 12.9 g/dL, total leukocyte count 7880 cells/μL, platelet 3.71 lac/μL) and biochemical (blood urea 28 mg/dL, serum creatinine 0.8 mg/dL, alanine aminotransferase 35 IU/L, aspartate aminotransferase 23 IU/L, alkaline phosphatase 176 IU/L, total bilirubin 0.5 mg/dL, Na+ 136 mEq/L, K+ 3.9 mEq/L) parameters were within the normal limits. Tri-dot and Mantoux tests were negative. Electrocardiogram and chest X-ray were also within the normal limits.\nFine needle aspiration cytology of the swelling, done on September 14, 2015, revealed pleomorphic adenoma of the left submandibular salivary gland.\nContrast-enhanced computed tomography neck showed heterogeneously enhancing mass lesion in the left submandibular region measuring 37 mm × 30 mm × 27 mm. Fat plane with parotid and surrounding muscles were maintained, no stranding seen. Ultrasound correlation showed well-defined hypoechoic mass in the left submandibular region medial to sternocleidomastoid muscle and anterior to carotid vessels, however, anterior part of submandibular gland appeared normal. For management of the condition submandibular gland excision was planned.\nAfter the patient was declared fit, surgery was performed successfully with adequate postoperative care. Peroperative findings revealed enlarged submandibular salivary gland involving both the superficial and deep lobe with normal surrounding viscera. The sample was sent for histopathological examination which did not show any malignant changes. There has not been a recurrence of the swelling yet at the end of 6 months during continuing follow-up.
A 49-year-old man presented to the cognitive and memory disorder outpatient clinic for work up of rapid cognitive decline. Patient’s family reported that his symptoms started with confusion, memory, and language impairment (naming errors and comprehension difficulties) 5–6 months prior to presentation. Soon after developing cognitive impairment, he developed gait abnormalities and action tremor. The symptoms were worsening. His decision-making became impaired and he had to retire from work 1 month after the onset of his symptoms. His medical history was remarkable for childhood dyslexia and lymphoma treated with chemotherapy more than a decade ago. There was no family history of neurological disorders. He was a former smoker with no history of alcohol or drug use. There was no recent travel history. The patient has never had any neurosurgical or ophthalmological procedures done.\nOn the initial evaluation, the patient was alert and awake but only oriented to person. He appeared emotionally labile and demonstrated frequent verbal and motor perseverations, echolalia, and echopraxia. Processing time was prolonged. Working memory and visuospatial functions were impaired and he had difficulty with object naming and recognition. General neurologic examination did not demonstrate myoclonus or other types of adventitious movements. His muscle tone was normal and gait evaluation demonstrated mild ataxia. Deep tendon reflexes were brisk throughout.\nThe patient had two magnetic resonance imaging (MRIs) of the brain performed: the first, 1 month into the disease and the second, 5 months later. Both brain scans demonstrated restricted diffusion in a gyral pattern along the cortical gray matter in bilateral parietal and occipital lobes, with lesser involvement of prefrontal cortical gray matter. Primary motor and sensory cortices were spared. There were mild signal changes in the corresponding regions on fluid attenuation inversion recovery (FLAIR) sequences. There were no signal changes in subcortical structures and no gadolinium enhancement present. Fluorodeoxyglucose-positron emission tomography (FDG-PET) scan of the brain showed diminished metabolism, predominantly in the posterior brain regions.\nCerebrospinal fluid analysis was performed twice. Concentrations of amyloid-β (Aβ42), total-tau (t-tau), phospho-tau181 (p-tau), and Aβ42-Tau Index (ATI) were measured by commercial assay (Athena) on the first cerebrospinal fluid (CSF) specimen. It was negative for protein 14-3-3 (Aβ42—498.95 pg/ml, t-tau—654.45 pg/ml, p-tau—43.4 pg/ml, ATI—0.49).\nThe second CSF analysis performed 4 months later demonstrated t-tau protein of 1179 pg/mL (>1150: 76% probability of prion disease), negative for 14-3-3 protein, and negative real-time quaking-induced conversion (RT-QuIC). Neuron-specific enolase was within normal limit (1.6 μg/L), with reference range of 1.0–7.0).\nA routine 45-min electroencephalography (EEG) was obtained. It demonstrated diffuse background slowing at 2–5 Hz without epileptiform features. As part of a comprehensive evaluation of the patient, he was admitted to the inpatient neurology service and continuous video EEG monitoring was started. The long-term monitoring went on for almost 38 h and demonstrated generalized medium-to-high amplitude slowing, more prominent in bilateral frontal regions at 2–6 Hz frequencies. At times, it demonstrated rhythmic 1–2 Hz discharges. Although a normal posterior dominant rhythm with a frequency of 8–9 Hz in the most alert state with attenuation with eye opening was identified, the study was considered abnormal due to generalized, intermittent rhythmic slowing and absence of normal sleep structures. The routine and long-term EEGs were performed approximately 6 months after emerging of the initial symptoms ().\nThe patient rapidly deteriorated and developed severe aphasia, apraxia, agnosia, and abulia. He died 8 months after developing the initial clinical symptoms.\nThe patient underwent an autopsy. The brain tissue was sent for special analysis for confirmation of the diagnosis. Western blot, histopathological, and immunohistochemical examination of the autopsied tissue demonstrated the presence of abnormal protease-resistant prion protein PrPSc (PrP 27-30) confirming the diagnosis of MM2 subtype of sporadic Creutzfeldt–Jakob disease (sCJD) according to the old and current criteria for classification of sporadic prion disease. The prion protein (PRNP) gene sequencing analysis did not demonstrate pathogenic mutation at the coding region of the PRNP gene, therefore a familial prion disease was ruled out based on the current criteria.
A 57-year-old female presented to her GP with a 3-month history of left-sided catarrh and epistaxis from her left nostril. Clinical examination was unremarkable and the patient was initially diagnosed with sinusitis. However, the symptoms did not resolve following treatment for sinusitis. On further examination, her dentist noted left palatal swelling and referred her to the maxillofacial clinic by which time she had been suffering from these symptoms for 18 months. In hindsight, her epistaxis might have been a warning sign, and on reflection, the GP highlighted the need to take new epistaxis seriously. Clinical examination by the maxillofacial team revealed diffuse palatal swelling of the hard palate. Subsequent magnetic resonance imaging (MRI) showed a palatal tumour extending into the floor of the left nasal cavity and projecting into the left maxillary antrum through the medial wall. Biopsy of the palate showed an invasive tumour indicative of an ACC of minor salivary glands in the palate. Staging was T4N0M0.\nShe underwent a left hemimaxillectomy where the palate and floor of the nasal cavity were excised. The defect was covered with a removable obturator. She also had postoperative radiotherapy.\nThe patient remained in remission for 8 years. She underwent several surgeries during this time such as alar repositioning surgery to help reduce facial asymmetry and augmentation rhinoplasty to help support the nasal collapse that was secondary to the hemimaxillectomy and radiotherapy. She also had fat grafting to her upper lip to improve the lip seal. As a result of her disease process and treatment, she had Eustachian tube dysfunction and had a number of grommets inserted. She experienced problems in accessing an adequate palatal obturator requiring referral to Birmingham Dental School. Counselling from local hospice charity LOROS was also sought to help the patient come to terms with the psychological and physical impact of major and disfiguring surgery.\nAfter 8 years of being in remission, she presented to the GP with a tingling and burning sensation of her left mandible and tip of tongue. Clinical examination did not show any lesion in the oral cavity and oropharynx with no cervical lymphadenopathy. The patient was subsequently referred to the consultant maxillofacial surgeon who had a low index of suspicion for recurrence at this late stage so investigations were not urgently undertaken. The chest X-ray was organised by the GP at the request of the maxillofacial team and an MRI scan was organised by the maxillofacial team. Fortunately, the personal list system at the practice ensured that the GP was well informed and able to act promptly. However, even after MRI scanning, the diagnosis of recurrent disease was still unclear so a multidisciplinary team discussion regarding the need for biopsy took place. Ultimately, at biopsy she was found to have recurrent disease in the left masticator space extending up to the base of the skull (). In addition, there was involvement of the left trigeminal nerve, explaining the patient’s unusual sensations. Computed tomography (CT) of the thorax additionally showed possible solitary metastasis, with a diameter of 1.5 cm in the left upper lobe, which was subpleural in location, though chest X-ray had been unremarkable.\nFollowing a further multidisciplinary meeting, the patient underwent a left selective neck dissection, craniofacial resection including a lip split mandibulotomy, and reconstruction using a left radial forearm free-flap. shows the CT scan following the surgery.\nTen months after surgery, the patient underwent left video-assisted thoracoscopic surgery involving wedge resection of the subpleural, left upper lobe nodule. Histological examination confirmed this to be ACC. Since then, the patient has been in remission for 18 months. While medically she is in remission, she suffers from the psychosocial implications of the facial deformity following the surgery and the discomfort with the prosthesis. This continues to affect her quality of life, her confidence to be in public places, and ability to eat.
A 31-year-old morbidly obese female initially presented to an outside hospital in February of 2014 with pulmonary embolism (PE) and iliofemoral deep venous thrombosis (DVT), which was presumably caused by her body habitus and oral contraceptive use. She subsequently underwent placement of a Cook Celect rIVCF (Bloomington, IN, USA) followed by pharmaco-mechanical thrombolysis of the DVT. Post-lysis, an attempt to extract the filter was made, but it could not be retrieved due to severe tilt. Although the patient complained of new-onset, severe abdominal pain shortly after the attempt at retrieval, it was felt that the filter could not be retrieved due to malposition. The subsequent plan was to anticoagulate the patient with Coumadin and leave the filter in place permanently. She was then transitioned to rivaroxiban (Xarelto) and hematologic workup was negative for inherited thrombophilia.\nThe patient continued to complain of severe, disabling abdominal pain, and 2 months later, she underwent computed tomography angiography (CTa) which demonstrated severe malpositioning of the device, with orientation at a near-transverse angle and the filter hook protruding beyond the wall of the IVC just caudal and anterior to the right renal vein ( and ). Struts of the filter appeared to be outside the IVC and appeared to be abutting the aorta as well. Given these radiographic findings and persistent abdominal pain requiring narcotics, another retrieval attempt was recommended—likely via an open approach, which the patient declined.\nThe patient subsequently presented to our institution for a second opinion 4 months after filter placement with persistent pain and was subsequently taken to the angiography suite for a second endovascular retrieval attempt. Venous access was obtained through the right internal jugular and right common femoral veins, and attempts were made to reposition and retrieve the filter. An attempt was made to balloon the filter off the cava wall with very aggressive traction on the filter with a glidewire looped around the apex of the filter. Unfortunately, the filter could not be disengaged from the wall of the vena cava despite multiple attempts.\nGiven the persistent abdominal and back discomfort, the patient still wished to have this device removed. However, given two failed endovascular attempts, a recommendation was made for laparoscopic or open filter retrieval. Three days after the most recent failed attempt at endovascular retrieval, she was taken for a planned laparoscopic or open retrieval. Unfortunately, venogram demonstrated extensive thrombus in the IVC cephalad and caudad to the filter, and filter retrieval was abandoned. Instead, the patient underwent initiation of catheter-directed thrombolysis with placement of the lytic catheter across the thrombosed segment. She remained intubated due to issues with poor respiratory mechanics in the context of her obesity and the need to lie flat for ongoing lysis via a groin sheath. The patient had an otherwise uncomplicated course of lytics, with complete resolution of the IVC thrombus after 24 h, and she was transitioned from heparin to Coumadin.\nAfter a 3-month course of anticoagulation, venogram was again performed which showed no residual thrombus in the IVC (), and the patient decided on another attempt at laparoscopic IVC filter retrieval with an open approach if it could not be extracted laparoscopically. During the procedure, the right common femoral vein was accessed with a micropuncture kit and ultrasound guidance by the vascular surgery team, and a 14 French (Fr) sheath was placed so that an occlusion balloon could be rapidly deployed if caval perforation occurred. The general surgery service then achieved peritoneal access via Veress needle (Covidien, Dublin, Ireland) in the left upper quadrant, and the abdomen was insufflated to an intra-abdominal pressure of 17 mmHg due to the excess weight of the abdominal wall, which led to initial difficulty achieving adequate insufflation at a pressure of 15 mmHg; 5-mm laparoscopic ports (Covidien, Dublin, Ireland) were placed in the left upper quadrant, right lower quadrant, left lower quadrant, epigastric, and periumbilical areas. An additional 12-mm port (Covidien) was placed in the right upper quadrant to facilitate filter retrieval, for a total of six laparoscopic ports. Visualization was achieved with a conventional-length 5-mm 30° laparoscope mounted on a Storz high-definition camera (Karl Storz GmbH & Co. KG, Tuttlingen, Germany). We should note that our camera port was rotated throughout the procedure as necessary for adequate visualization. For proper exposure of the IVC, the right colon and duodenum were mobilized laparoscopically. There did not appear to be any free fluid within the peritoneal cavity upon thorough initial laparoscopic inspection. Upon Kocherization, the IVCF tip was seen to be cleanly protruding from the wall of the cava, with a lack of both leakage around the filter tip and local peritoneal reaction. No defect was noted on the duodenum and minimal dissection around the filter hook was required for adequate visualization.\nWe subsequently used a gooseneck snare passed through the 12-mm port to grasp the top of the filter, and a 12 Fr sheath was passed down over the snare to collapse the filter. The filter subsequently easily disengaged from the wall of the IVC and was pulled up and out of the abdomen along with the 12 Fr sheath. Prior to removal of the filter, a Coda balloon (Cook, Bloomington, IN, USA) had been positioned at and level of the filter, and concomitant with filter extraction was inflated to balloon tamponade any bleeding from the IVC (). There was minimal bleeding and after 3 min of balloon inflation and completion venography demonstrated no extravasation (). The general surgery team laparoscopically ran the bowel from the ligament of Treitz to the terminal ileum, and there was no evidence of serosal tear or other injury. Wounds were closed primarily, and the patient was extubated at the end of the procedure and subsequently had an uncomplicated hospital course with discharge on postoperative day 1 and no systemic anticoagulation.\nShe was seen in clinic 2 weeks following her procedure and was noted to have subjective improvement in her abdominal and back pain. The authors would like to note that our institutional review board (DUMC) policy does not require prior ethics approval in the reporting of individual cases, and that written informed consent was obtained relative to the individual whose disease process is herein discussed.
In December of 2006, a 57-year-old man presented with severe right upper posterior chest and back pain. A chest X-ray revealed a mass in the right upper chest. A subsequent CT scan confirmed an 8 cm mass in the posterolateral right upper lobe (RUL) with destruction of the adjacent ribs and invasion into the chest wall. Moreover, there was a separate spiculated mass in the contralateral left upper lobe (LUL) measuring 11 mm. A PET/CT showed the large RUL mass with a standardized uptake value (SUV) of 14, and the LUL lesion had an SUV of 3.4. There was no significant hypermetabolism in the mediastinum and there was no evidence of distant disease.\nIn January 2007, he underwent a cervical mediastinoscopy and left video-assisted thoracoscopy with wedge resection of the left upper lobe lesion. The LUL pathology showed a moderately to poorly differentiated adenocarcinoma measuring 1.0 cm. All of the mediastinal lymph nodes were negative. It was unclear whether or not the LUL nodule was a separate primary or a metastatic lesion from the RUL primary mass. A brain MRI showed a 6 × 6 mm lesion in the midline pons with minimal hemorrhage and mild surrounding edema that was strongly consistent with a single metastatic lesion (see ). Therefore staging was determined to be T3N0M1, Stage IV, and it was felt that his primary disease should be treated aggressively secondary to chest wall invasion and pain and limited metastatic disease. He was started on chemoradiotherapy to the RUL primary, and Gamma Knife radiosurgery was performed the next month to target the lesion in the pons. A prescription dose of 14 Gy to the 50% isodose line was used, which resulted in 100% of the tumor receiving 15.1 Gy (see for an example of the treatment planning process). The conformality index was excellent at 1.2.\nHe completed 60 Gy in 30 fractions via a 3D conformal radiotherapy course with concurrent carboplatin and Taxol to the RUL and chest wall mass. In April 2007, a follow-up brain MRI showed an excellent response to the GKSRS with no residual enhancement in the pontine metastasis and no new brain lesions (see ). In May of 2007, a restaging PET/CT showed 50% reduction in the size of the RUL tumor with reduced SUV of 8, but still with significant invasion of the chest wall, yet still no evidence of distant disease. Therefore, with excellent performance status, the patient elected to undergo a right thoracotomy, right upper lobectomy, and extensive chest wall resection. The primary tumor was excised, with good margins and without complication. The tumor-infiltrated region of the chest wall was resected along with large portions of the third and fourth ribs. Pathology revealed 99% necrotic poorly differentiated nonsmall cell carcinoma with few viable cells left in the specimen.\nA follow-up MRI two months later illustrated that the lesion in the mid pons was no longer visible as an enhancing lesion and that the signal intensity of the lesion had decreased significantly. However, there were two new brain metastases. One 5 mm lesion in the right cerebellum was identified, and another 6 mm lesion was seen in the frontal corticomedullary junction.\nThe patient desired to avoid whole-brain radiation and elected to proceed with a second Gamma Knife treatment in July 2007. The two lesions were targeted with a prescription dose of 20 Gy to the 50% isodose line. It was noted that the lesions had grown in the interim with the right cerebellar lesion now 13 mm and the frontal lesion was 14.2 mm, respectively.\nAn interim MRI showed good response; however an MRI in January 2008 demonstrated that the right superior frontal metastasis had increased significantly in size to 27 × 27 mm and was accompanied with increased vasogenic edema. This was consistent with either progression or pseudoprogression (radiation change). The patient elected to proceed with a stealth stereotactic craniotomy with microsurgical tumor resection. A follow-up CT of the head showed that the craniotomy removed most of the enhancing large lesion; nevertheless, some residual enhancement along the posterior rim remained.\nDuring a followup three months later, an MRI illustrated a new enhancing focus adjacent to the anterior margin of the resected lesion and the interval increase in the surrounding vasogenic edema compatible with disease progression. The patient underwent his third Gamma Knife radiosurgery in May 2008, with a prescription dose of 18 Gy to the 50% isodose line. The follow-up MRI showed a modest response in the treated right frontal lesion. An MRI two months later showed progression of the metastatic disease in the right frontal lobe with an increased interval of nodular peripheral margin enhancement to 2.7 × 2.2 × 2.7 cm, with surrounding reactive edema. He maintained good performance status and elected to proceed with a reoperative craniotomy later in Oct 2008. The tumor bed was excised successfully, and pathology confirmed 90% necrotic metastatic carcinoma consistent with a lung primary. There was no active disease at the margins. The follow-up MRI confirmed the absence of residual enhancement.\nThe patient was still adamantly against whole brain radiation or even a more limited fractionated radiotherapy course. Due to the extensively resilient nature of his local brain disease in the right frontal lobe, the patient opted to complete a final Gamma Knife radiosurgery to the resection margin in November 2008. The previously treated cerebellar tumor was seen as a tiny enhancing lesion on the planning MRI scan, which was not seen on previous scans. It was treated with 9 Gy to the 50% isodose line (16.8 Gy marginal dose). The right frontal resection bed was treated to 15 Gy to the 50% isodose line.\nSubsequent MRIs have shown steady response and no definite evidence of disease. Currently he has no evidence of systemic or intracranial disease. He tolerated all the treatments remarkably well.\nHe denies any significant problems, although he states that he has some difficulty with memory problems. He has no neurologic problems and no headaches. The patient has made a remarkable recovery and has toiled his way through a potentially fatal prognosis to become a long-term survivor. He is leading a normal active life at this point; in fact, he recently completed construction on his own new home.
A 50-year-old male who had a past medical history of HIV with unknown cluster of differentiation 4 (CD4) lymphocyte count and not compliant with his medications was brought in by emergency medical services (EMS) after he was found in his room covered in feces and looking disheveled. They brought him to Brookdale University Hospital and Medical Center emergency room. His initial vital signs showed a temperature of 100 ºF, blood pressure of 143/91 mmHg, heart rate of 105 beats per minute, respiratory rate of 20 per minute. He was noticed to have disseminated, vesicular-pustular rash all over his body at different stages of healing and crusted skin eruption on his anterior neck and submandibular area (Figures -).\nPatient’s neurological exam revealed that he was alert and oriented to self only, had a right-sided upper and lower facial droop. The patient also had impaired hearing on the right side. The muscle strength was 5/5 throughout. The patient had normal reflexes and the sensation was intact. The remainder of his physical exam did not show any other abnormal findings. Computerized tomography of the head without contrast showed no acute intracranial pathology. Subsequently, the patient had a lumbar puncture done in the emergency room which revealed a cloudy cerebrospinal fluid (CSF) with a white blood cell count of 849 cells/uL with lymphocyte predominance (72%), glucose of 39 mg/dl and protein of 364 mg/dl. Serum electrolytes, liver enzymes, and coagulation profile were all within normal limits. CSF sample was sent for a varicella-zoster polymerase chain reaction (PCR) test as well. His chest X-ray was clear without any infiltrates. His initial laboratory investigations are summarized in Table .\nA presumptive diagnosis of disseminated VZV with encephalitis was made according to the patient's skin lesions and CSF analysis. Therefore, he was started on intravenous acyclovir at 10 mg/kg every eight hours and admitted to the general medical floor under contact and airborne precautions. Patient’s varicella zoster PCR from the CSF sample came back positive. Patient mental status improved rapidly within 48 hours of treatment and he became alert and fully oriented. On eye exam, the patient had diplopia with right gaze, and it was determined that he had a right sixth cranial nerve palsy. He had deficits in right sided cranial nerves VI, VII, and VIII evident by impaired right eye abduction, right sided facial weakness, as well as impaired hearing. This constellation of findings is likely secondary to Ramsay Hunt syndrome with multiple cranial nerve involvement. Intravenous acyclovir was continued, and the patient started taking prednisone 50 mg orally for five days for the treatment of Ramsay Hunt syndrome. He was also found to have otitis externa and was prescribed ciprofloxacin with dexamethasone otic drops. Magnetic resonance imaging of the brain without contrast found nonspecific white matter lesions in the high left frontal lobe measuring approximately 8 mm but otherwise no mass, hemorrhage, or acute infarct (Figure ).\nThe patient’s mental status came back to his baseline on day three. The patient’s rash had crusted on day six hence the isolation precautions were discontinued. He started ambulating without any difficulty and facial paralysis resolved by day eight. He was safely discharged home after nine days of hospital stay with oral acyclovir 400 mg tablets three times daily for 21 days and prednisone 50 mg tablets daily for three days.
A 50-year-old man presented to the emergency department (ED) complaining of symptomatic large volume ascites. The patient and his ascites had been followed by his PCP, who had been adjusting diuretics. However, the patient was failing diuretic management and so was referred to our hospital for a therapeutic paracentesis. The patient's past medical history was significant for a complicated course of gallstone pancreatitis that occurred eight months prior to his current presentation. Chart review revealed several prolonged hospital courses, totaling 53 hospital days, with multiple complications, including necrotizing pancreatitis status after necrosectomy and cholecystectomy, interval placement and subsequent removal of a percutaneous endoscopic gastrostomy tube with jejunal arm (PEG-J) for enteral feeding, Clostridium difficile diarrheal infection for which he had received fourteen days of treatment with oral metronidazole, and a new diagnosis of diabetes mellitus. Additionally, he had been found to have new portal vein and splenic vein thromboses during that hospitalization and had since completed six months of therapeutic anticoagulation, originally with Apixaban, which was later switched to Rivaroxaban.\nAt the time of the patient's current presentation for ascites, most of the above medical problems had resolved. He was tolerating a regular diet and was being followed by his PCP for management of recurrent ascites felt to be due to the above-mentioned portal vein thrombosis.\nThe patient reported no symptoms other than decreased appetite secondary to bloating and pain in his right groin likely from nonincarcerated hernia. He had no fever, shortness of breath, nausea, vomiting, diarrhea, or significant constipation.\nUpon presentation to the ED, computed tomography (CT) of the abdomen showed large volume ascites with no propagation of the portal vein or splenic vein thromboses with interim development of collaterals.\nOn exam, the patient's heart rate was normal with a regular rhythm, his lungs were clear, and there was no lower extremity edema. His abdomen was significantly distended, with bulging flanks and a palpable fluid wave. There was a well-healed midline surgical scar with a distal keloid and easily reducible umbilical hernia. Aside from the ascites, the patient had no other sequelae of chronic liver dysfunction; he exhibited no jaundice, no palmar erythema, no spider angiomata, no venous distention, and no asterixis.\nIn the ED, the patient underwent paracentesis by the gastroenterology (GI) team under normal sterile technique with removal of approximately 4.5 L of clear, yellow fluid. Initial Gram stain of the ascites fluid revealed white blood cells and no bacteria. Pertinent fluid analyses revealed glucose 100 mg/dL, amylase 52 U/L, WBC 372/UL with 48% polymorphonuclear cells (PMNs) and 24% lymphocytes, total protein 4.2 g/dL, and albumin 2.1 g/dL giving a serum albumin ascites gradient of 1.5, consistent with portal hypertension or congestive heart failure. Blood work revealed a peripheral white blood cell count of 6.85 k/μL with a normal differential, platelet count of 326 k/μL, and a lactic acid of 1.3 mmol/L. Ultrasound of the abdomen confirmed that there was no interim propagation of the portal vein thrombosis as well as presence of patent collaterals.\nThe patient was discharged from the ED with a follow-up outpatient appointment with a GI physician for further evaluation and management of recurrent ascites. The following day, the GI team was contacted by the Clinical Microbiology Laboratory that Gram-positive cocci in chains were growing in the ascites sample. The GI team contacted the patient's wife who reported that the patient had experienced no clinical status change since the procedure, specifically no fevers or abdominal pain.\nThe GI team felt that the laboratory result likely represented a contaminant in the sample, and they decided to await speciation before asking the patient to return to the hospital. The following day, the Clinical Microbiology Laboratory reported Granulicatella adiacens (not a common laboratory contaminant), so the patient was asked to return to the hospital to be admitted for further monitoring and evaluation.\nUpon return to the hospital, the patient reported interval improvement in his abdominal bloating and appetite, and he denied any new symptoms, including fever, abdominal pain, nausea, or diarrhea. His exam was unchanged from prior exam aside from a decrease in his abdominal distention. The GI team performed a diagnostic paracentesis, which revealed glucose of 135 mg/dL, WBC of 813/UL with 72% lymphocytes, 1% PMNs, and 2% atypical lymphocytes, total protein of 4.3 g/dL, and albumin of 2.1 g/dL. Ascites fluid again showed 3+ white blood cells and the bacterial culture again grew Granulicatella adiacens. Peripheral blood cultures from two separate peripheral sites were collected and showed no growth after 72 hours. Blood work was not significantly changed from the first presentation.\nThe patient underwent a transthoracic echocardiogram that showed no evidence of structural cardiac defect and no evidence of endocarditis. His previous CT was reexamined and a large fluid collection was seen with a possible rim of residual pancreatic tissue. Based on this, a magnetic resonance cholangiopancreatography (MRCP) was performed that revealed a fluid collection with possible communication to the left colon. The GI team consulted the general surgery team, who, on review of the imaging and patient status, felt that the risks associated with any surgical intervention outweighed the potential benefits of source control.\nDue to the patient having a penicillin allergy, he received intravenous vancomycin for his course of therapy. The five-day antibiotic course was initially complicated by an infusion-related “red man” reaction requiring pretreatment with diphenhydramine and slower infusion times. On hospital day 3, a peripherally inserted central venous catheter (PICC) line was placed, and the patient was discharged home in stable condition. The patient underwent colonoscopy one month later and was found to have three hyperplastic polyps without evidence of malignancy. There was no apparent communication between the colon and the fluid pocket that had been visualized on MRCP. No further blood or ascites cultures were collected in the immediate period after his hospitalization.
A 62-year-old woman complained of trismus and difficulty in mastication following bilateral mandibular fractures. Six months prior, she had lost consciousness in a bus and hit her head when she fell, which resulted in fractures of the jawbone and anterior part of the maxilla, among other injuries. Subsequently, she was immobilized for 3 months. She was referred to our department because of persistent pain and no improvement in mouth-opening despite rehabilitation with a wooden device. She complained of pain in the molar during mouth-opening exercise, which reflected poor adherence to mouth-opening training. She lost her maxillary incisors and used a partial denture. Thus, we measured her MID between incisors of a partial denture and lower incisors. The MID was 22 mm, and she experienced pain on attempting to open the mouth further (). Radiography and CT images revealed displacement of the left and right temporomandibular articular heads due to fracture (Figures and ). Tooth mobility was noted in the maxillary annular tooth. The General Oral Health Assessment Index (GOHAI) [] score was 29 points at the first visit. Regarding feeding function, the Fujishima's Food Intake Level Scale [] value was level 8 (the patient ate three meals, avoiding food that is particularly difficult to swallow).\nThe patient was treated with intra- and extraoral massaging and a home exercise program to increase the MID using a device made of ethylene vinyl acetate (EVA). A 4 mm thick EVA sheet was cut into 2 × 6 mm pieces. The surface of the sheets was then softened using a burner, and blocks were created by stacking the sheets (). The thickness of the block was adjusted according to the MID. Furthermore, the device was slanted and inserted from the thin side. The initial thickness of the device was also decided based on the MID. In our patient with MID of 22 mm, the initial thickness of the thin side was 20 mm. The patient received instructions regarding inserting the device, advancing it in the direction of the molar teeth to increase the mouth-opening, and avoiding overloading the teeth and crest (). Each training session of 15 minutes was prescribed twice a day whenever possible. Once the device could be easily inserted, the thickness of the device was increased accordingly.\nOne week after the first visit, the MID improved to 26 mm with training. The thickness of the device was increased to 24 mm to facilitate further mouth-opening since the patient did not complain of any TMJ, muscular, or teeth-related symptoms. After 2 weeks, the MID improved to 32 mm. Tenderness was observed around the left zygomatic area after training, and she was instructed to massage the surrounding area and prescribed exercise therapy for TMJ after mouth-opening training. The patient complained that the increase in the extent of mouth-opening persisted only for approximately 2 hours after the training. Therefore, the patient was instructed to perform mouth-opening training twice a day (morning and evening). After 2 months, the MID before the training session was 35 mm and improved to 42 mm after training ( and ). At this stage, the patient was comfortable and did not experience any issues related to trismus in her daily life. Therefore, it was decided to retain the device thickness at the same level to maintain the improvement in mouth-opening. After 12 months, the MID before training was 41 mm. Oral-related quality of life was assessed using GOHAI score, which improved to 34 after 3 months and 40 after 12 months (). Regarding feeding function, the Fujishima's Food Intake Level Scale value improved to level 10 (normal; there is no dietary restriction, and the patient ingests three meals orally) after 2 months of training and was sustained after 12 months of training ().
A 66-year-old man, who complained of upper abdominal pain, was found to have EGJ tumor by endoscopy (Fig. ). He was diagnosed as having Siewert type II adenocarcinoma (E=G, cT1b, cN0, cM0, cStage I) []. We planned to perform lower esophagectomy and proximal gastrectomy with double tract reconstruction.\nIn the computed tomography (CT) scan before surgery, a 10-mm aneurysm in the middle third of the splenic artery was found (Fig. ). Due to the anatomical location of the aneurysm, endovascular treatment was not considered due to recanalization and coil migration. The size of the aneurysm was not a high risk of rupture [], but we concerned about the possibility of SAA rupture due to postoperative pancreatic fistula (PF) associated with suprapancreatic lymph node dissection such as station 11p and 11d. We thought that spleen blood flow could be preserved even after SAA resection by preoperative CT scan and unnecessary invasive procedures could be avoided by simultaneous surgery. However, during simultaneous proximal gastrectomy and SAA resections, it was not clear whether there was sufficient blood supply to the spleen. Thus, we performed the surgery with a minimally invasive abdominal and left thoracic approach (MALTA) while continuously examining for the presence of blood supply to the spleen using fluorescence imaging.\nThe patient was placed under general anesthesia and was positioned in reverse Trendelenburg with the left side of the upper body lifted and the legs spread. Laparo- and thoracoscopic proximal gastrectomy and lower esophagectomy with D1+ lymph node dissection and double tract reconstruction were performed. First, we resected the SAA. Next, laparoscopic proximal gastrectomy was performed using five ports. Four ports were inserted into the thoracic cavity through the 9th, 10th (× 2), and 11th intercostal spaces, with the patient in the same body position. Lower thoracoscopic esophagectomy and lymph node dissection of the lower mediastinum was performed under artificial pneumothorax. The lower esophagus was resected under the thoracoscopic view to ensure an adequate margin. SAA located at the distal side of the branch of the great pancreatic artery (Fig. ), so we clamped the splenic artery to preserve the great pancreatic artery temporally. Then, we injected 5 mg of indocyanine green (ICG) intravenously to the patient. Blood supply to the spleen was confirmed using fluorescence imaging (Fig. ). Therefore, we resected the SAA without splenectomy (preserving the great pancreatic artery and the spleen). Intrathoracic esophagojejunostomy was performed with a transoral anvil (OrVil™) and a circular stapler (EEA25™) using the laparo- and thoracoscopic techniques. In addition, an oblique jejunogastrostomy for double tract reconstruction was performed. The operative time was 362 min, and there was no blood loss.\nHistopathological diagnosis of the tumor was adenocarcinoma with enteroblastic differentiation (pTIb, pN1, pStage IIB according to the UICC Classification, 8th edition,) and with clear margins. Oral intake was resumed on postoperative day 5. Postoperative CT scan revealed the preservation of the great pancreatic artery and omental branches of the left gastroepiploic artery (Fig. ). There was no splenic abscess due to ischemia or other complications. The patient’s length of hospital stay was about a month.
A 13-year-old boy with no significant past medical history presented to our outpatient clinic due to back pain with fever. He had been well until approximately 4 months before admission, when he occasionally had high fever. He started to complain of the lower back pain during 3 months before admission, but he thought it was caused by his daily training of track and field. 4 days before admission, high fever developed. His back pain became so severe 3 days ago that he was seen by his family doctor. His symptoms did not improve in spite of acetaminophen administration.\nHis past medical history was unremarkable, without any trauma, surgical history, or recurrent bacterial infections. He was a junior high school student, and a track and field athlete. He always trained by himself around the corner of zoo, and had no contact history with animal. The patient had raw poultry eggs which were directly purchased from a neighborhood farm just a few weeks before he started complaining of occasional high fever.\nOn admission, the patient was conscious complaining of severe lumbar pain which was exacerbated according to any movement, and it was hard for him to walk without support due to the severe pain. On physical examination his vital signs were normal except a body temperature of 38 °C. Neurological examination demonstrated no motor or sensory deficits, and other physical findings were nonspecific, and any gastrointestinal signs were not identified.\nLaboratory exams showed a slight increase in white blood cell count (WBC 10,100 /μL; neutrophils 61%, lymphocytes 29%) and elevation of C-reactive protein (CRP 7.27 mg/dL). Initial blood cultures were negative. His immunoglobulin G, A, M level were within normal range. Interferon-γ based release assay (QuantiFERON-TB GOLD) was negative. Chest X-ray and abdominal ultrasound showed no abnormal findings. The lumbar lateral radiologic findings showed inhomogeneous appearance of the inferior wall of the L4 and anterior wall of the L5 vertebral bodies (Fig. ). Thoracic and lumbar magnetic resonance imaging (MRI) showed abnormal high signal of the vertebral bodies of L4–5 in sequences of T2-weighted images and paravertebral low diffusion in sequences of T1-weighted images. The interior of the vertebral canal was intact (Fig. ).\nThe patient was diagnosed as pyogenic spondylitis and paravertebral abscess. We began antibiotic therapy empirically using cefazolin and clindamycin to cover Staphylococcus aureus and Gram-negative organisms. The patient remained febrile and CRP was elevating even after starting the initial antibiotic therapy, therefore we switched the antibiotic to vancomycin assuming community acquired methicillin-resistant Staphylococcus aureus (MRSA) as the possible causative organism. Soon after starting vancomycin the patients fever reduced and his CRP returned to the normal range. He remained afebrile during the 3-week administration of vancomycin, so we switched the antibiotic to oral linezolid. He was discharged after we made sure that he remained afebrile and CRP was negative for a week. During this course, we did not perform percutaneous CT-guided biopsy since it seemed to be quite invasive given the location of inflammation and abscess, and the clinical course was favorable. However, he began exacerbation of back pain 2 weeks later after discharge, and was hospitalized again. The laboratory test showed the elevation of CRP, and MRI showed major destruction of the vertebral bodies (Fig. ). To prevent neurological deficits due to treatment failure, we stopped administering linezolid and performed surgical drainage, and transplantation of iliac crest graft following curettage of the vertebral disc. During and after the surgery, we used sulbactam cefoperazone empirically. Tissue, wound and abscess cultures from the surgical specimens grew Salmonella Saintpaul which was sensitive to cefotaxime, therefore we changed the antibiotic to cefotaxime. His fever reduced and CRP began to decline soon after the surgery, but 2 weeks after starting cefotaxime, follow-up MRI showed a left sided psoas abscess (Fig. ). We performed CT-guided biopsy and debridement, which led to no exacerbation in symptoms and laboratory data afterward. Cefotaxime was administered for a total of 4 weeks, and after making sure that he remained afebrile and CRP remained within the normal range, we switched the antibiotics to oral trimethoprim-sulfamethoxazole which the organism was susceptible to. He was discharged and finished taking trimethoprim-sulfamethoxazole for a total of 2 weeks. The radiograph and MRI at the point of 6 months follow-up after discharge revealed improvement of vertebral bodies alignment, and no exacerbation of abscess formation or bone destruction (Fig. ). He currently shows no neurological problems, and is under follow-up observation every 2 to 3 month at our outpatient clinic with good recovery.
A six-month-old female infant was referred to cardiology due to progressively increasing oxygen requirements and cardiomegaly on chest X-ray. She was born at 25 weeks of gestation and had multiple medical problems in the early neonatal period including retinopathy of prematurity, hyaline membrane disease, gastroesophageal reflux, severe liver dysfunction, and suspected necrotizing enterocolitis. She had a history of ligation of her patent arterial duct on the 16th day of life. On physical exam her respiratory rate was 65, her heart rate was 153, and blood pressure was 130/80 mmHg. Her oxygen saturation was in the low 90s on 30% FiO2 (fraction of inspired oxygen). Her lung sounds were coarse. Her heart had regular rate and rhythm, with no murmurs. Her abdomen showed a liver edge that was palpable three centimeters below the right subcostal margin. She had a palpable bruit at the left antecubital fossa. Pulses were normal and equal on all extremities, and there were no obvious discrepancies in limb lengths. An echocardiogram showed severe pulmonary artery hypertension with mild right ventricular and atrial dilatation, with a patent foramen ovale shunting right to left. Biventricular systolic function was normal, with no evidence of left ventricular hypertrophy or dilatation. A duplex ultrasound of the left upper extremity showed presence of an AVF between the left brachial artery and vein as evidenced by increased flow obtained from the left brachial artery with dilated, tortuous brachial veins demonstrating arterialized flow along the length of the veins. Velocity measurements of up to 692 cm/second were obtained at the level of the AVF (Figures and ).\nThe calculated blood flow in the fistula was estimated to be about 450–500 mL/min, which is equivalent to up to twice the estimated total cardiac output for this patient. The fistula was not ligated because its location was high risk for limb-loss. She was managed with diuresis and blood pressure control. One month later, she was reevaluated for recurrent and progressive episodes of desaturations and respiratory distress. On physical exam her vital signs showed a respiratory rate of 60 per minute, and oxygen saturations were between 90–95% on oxygen supplementation by nasal cannula. Her blood pressure was 52/32 mmHg, and the heart rate was 134–148 beats per minute. Cardiac exam demonstrated normal S1 and S2, no murmurs, and an intermittent gallop. Electrocardiogram showed normal sinus rhythm with right atrial enlargement and right axis deviation and T-wave inversion in the lateral leads, suggesting right ventricular strain. The echocardiogram suggested elevated pulmonary artery systolic pressures, which were 2/3 of the systemic pressure. The right ventricle showed mildly depressed systolic function.\nThe patient was started on sildenafil for management of the pulmonary hypertension, but this did not alter the measured pulmonary pressures upon echocardiographic reevaluation one week later. On careful assessment of the left antecubital fossa, with temporary manual occlusion of the affected area, there was a decrease in the heart rate from 128 bpm to 102 bpm, and an increase in the blood pressure from 76/55 to 92/57 mmHg (positive Nicoladoni-Branham sign [, ]). An echocardiogram that was done simultaneously showed a decrease in the flow through the right ventricle. The fistula was subsequently surgically ligated without complications. Repeat physical exam showed normalization of the patient's blood pressure and heart rate readings. She was quickly weaned to room air. A repeat echocardiogram done thirteen days after the repair showed no evidence of pulmonary artery hypertension.
A 53-year-old man was referred to our interventional radiology unit for claudication on the right leg, after walking 300 m. His symptoms had started three months before admission. He did not experience thigh or buttock pain while walking. Physical examination revealed a weak pulse in the right groin and ankle and a normal pulse in the left leg. The patient underwent a coronary artery bypass graft operation two years prior to treatment. Hypercholesterolemia was a risk factor, and his other laboratory tests were within normal limits. He did not have DM, hypertension (HT), or chronic renal disease. Color Doppler ultrasonography revealed occlusion of the right external iliac artery and patency of the right common iliac and common femoral arteries. The left iliac artery was patent throughout its course. The distal abdominal aorta was aneurismal, with an outer diameter of 36 mm. Endovascular treatment of the occlusion was planned as the aneurysmal dilatation of the distal infrarenal aorta was mild (). The patient did not mention ED, and it was not part of our procedure to question each patient with claudication about ED. Thus, further evaluation for ED, such as urology consultation or penile Doppler ultrasonography examination, was not performed. The procedure was explained to the patient, and written informed consent was obtained.\nThe procedure was performed under conscious sedation and analgesia with fentanyl citrate and midazolam, as required. Knowing about the occlusion on the right side, we decided to gain access to the artery from the right femoral artery; crossing the occlusion and placing the stent would be simpler on the ipsilateral side. The right common femoral artery was punctured under ultrasonography, and a 6 Fr vascular sheath was placed in common femoral artery. The occlusion was crossed with a 0.035-inch straight hydrophilic guide wire (Radiofocus, Terumo Europa, Leuven, Belgium) with the help of a diagnostic catheter (Vertebral catheter, Cook, Bloomington, IN, USA). Next, a pigtail catheter was placed in the distal aorta, over the wire. Angiograms of the aorta, pelvic arteries (anteroposterior and oblique views) and both lower extremity arteries were obtained. Angiograms confirmed fusiform aneurysmatic dilatation of the distal infrarenal abdominal aorta as well as occlusion of the entire length of the right external iliac artery (). The right internal iliac artery was patent and was considerably dilated, with a high volume flow on the angiogram (). The right internal iliac artery was the main feeder or blood supplier for the right common femoral artery and the leg arteries distal to the occlusion. The dilatation of, and very high flow through, the right internal iliac artery was likely a result of the redirection of blood flow to the right leg (). The left common and external iliac arteries were normal (). The left internal iliac artery was patent, without stenotic lesions, throughout its course. Based upon angiographic observations, we did not know that this patient may have erectile dysfunction. The lower extremity arteries were normal on both sides.\nPrimary stent placement with a self-expanding nitinol stent was used, as the lesion was an occlusion. 5000 IU of heparin was administered intra-arterially prior to the placement of the stent. After placement of the vascular sheath, a stiff, 0.035-inch, 180-cm guide wire (Amplatz, Boston Scientific, Miami, FL, USA) was placed through the pigtail catheter, and a 7 × 80 mm self-expanding nitinol stent (ev3, Plymouth, MN, USA) was deployed and dilated with a 6 mm balloon catheter (Ultrathin, Boston Scientific, Galway, Ireland). Angiogram after stent placement showed excellent patency of the occluded external iliac artery (). There was abrupt decrease of flow velocity in the right internal iliac artery, as if the contrast had been suspended in the artery (). This occured due to the large diameter of the artery, as a response to the long-standing occlusive lesion. The late phase of post-stent iliac arteriography shows better internal iliac artery branches (). The procedure was completed without complications. The patient was discharged the same day, 6 hours after removal of the vascular sheath, and was instructed to take 300 mg of acetyl salicylic acid per day for an indefinite period of time.\nThe patient was seen in the interventional radiology outpatient clinic a month after the procedure, and intermittent claudication had resolved completely. The patient also stated that he had had ED developing alongside claudication, but he had not mentioned this prior to angiography. He expressed that erectile dysfunction recovered promptly and completely directly following the interventional procedure as did his claudication. The angiograms performed prior to intervention were reevaluated. The diagnosis of external iliac artery steal syndrome, not considered at the beginning of treatment, was established with angiography findings and an understanding of the patient's symptoms. The hypertrophied right internal iliac artery was likely feeding the right lower extremity by diverting blood away from the pelvic arteries, including the right pudendal artery feeding the penis. Although the left internal iliac artery was patent, its contribution to the penile tissues was probably insufficient, and blood flow to the penis could not be compensated for by the left side. We did not take a selective angiogram of the left internal iliac before prior to placement and, thus, further discussion would be mere speculation. However, it is possible that the left internal iliac artery also fed the right leg through connections between the right and left internal iliac arteries and the right common femoral artery.
A 76-year-old Korean woman with a chief complaint of low back and left buttock pain prolonged for several years visited our clinic. She was diagnosed with L4-5 and L5-S1 spinal stenosis at the orthopedics department and was referred for lumbar spinal epidural steroid injection. She was taking 75 mg of clopidogrel and 80 mg of valsartan daily since after the diagnosis of hypertension 10 years ago. Besides hypertension and spinal stenosis, she was not diagnosed with other medical conditions. She used NSAID intermittently to control the pain, but it was not that affective. Four months before, she received trigger point injection in quadratus lumborum and gluteus medius at a local clinic, but it was not affective either. The informed consent was obtained from the patient after the objective of this paper was explained.\nThe patient complained pain of the numerical rating scale (NRS) of 5, but there were no signs of weakness or sensory impairment. Based on physical examination (no signs of pain or radiating pain on both buttock detected by straight leg raising test), several pain points were observed in various sites of both quadratus lumborum and gluteus medius, and several trigger point injections were performed on that site. The patient was placed in a prone position, and trigger points on the left quadratus lumborum and gluteus medius were checked. A dose of 8 mL of 0.5% mepivacaine was injected 4 mL each with 25-G, 38-mm needle to the sites. To prevent bleeding, the injected sites were manually compressed for about 2 minutes. After confirming that there was no external bleeding, the patient was changed to a supine position and stayed still for 10 minutes. During this resting period, the patient told that the pain in the left lumbar and buttock was alleviated to NRS of 2. Additional 20 more minutes of resting, she returned home without specific findings. About 2 hours later, she came back to our clinic in a wheelchair with her guardian. The patient experienced pain, numbness, and weakness in the left buttock and lower legs about an hour after she left the hospital. Additionally, the pain was intensified to NRS of 7, and there was muscle weakness so that she could not maintain a straight posture while standing.\nThe patient was placed in a supine position and the muscle strength of left lower leg was checked. The muscle strength was normal when the knee joint and ankle joint were moved. However, voluntary abduction of hip joint was prohibited and she complained pain in the left buttock and posterior side of thigh on hip flexion and extension. There was no rash or bleeding on the left buttock area in a prone position, but she complained a severe tenderness. A 6 to 13 MHz linear transducer (Sonosite, Bothell, WA) under ultrasound-guided imaging was used to identify any anomalies in the site. Ultrasonographic images showed low echoic shadows of 18 × 9 mm in the left gluteus medius muscle (Fig. ), which was suspected as a hematoma. When checked with the color Doppler image, there were no blood vessels located nearby.\nWith a 23-G needle, 0.7 mL of blood with a small volume of blood clots was aspirated from the hypoechoic site. The site of hematoma was manually compressed for about 10 minutes to prevent additional bleeding. The patient was placed in a supine position once again and rested for an hour. After resting, she could be able to stand still, and the pain and numbness in the area was relieved to NRS of 2. She still complained of a mild pain in the left buttock and leg, but the motor weakness improved so that she could be able to walk assisted or independently.\nTwo days later, the patient visited again for follow-up. The pain on the left quadrates lumborum and gluteus medius muscles were decreased (NRS 1) and no other symptoms was detected except for a slight numbness. She was instructed to stop taking clopidogrel until the next follow-up, which was arranged after 1 week. The pain in the left buttock was increased to NRS 4 after a week and this time a blood test was performed before trigger point injection. Blood tests revealed normal values for prothrombin time (PT), activated partial thromboplastin time (aPTT), international normalized ratio (INR), bleeding time, and coagulation time. Ultrasound-guided trigger point injection was performed and no hematoma was detected during the procedure. After 5 minutes of manual compression, the pain was improved without any complication.
We describe the case of a 45-year-old Hispanic man who presented to the psychiatric emergency room on account of depressed mood and forgetfulness. He was found by his niece sitting in the bathroom batting away imaginary flies and crying, stating that he could not remember anything which prompted his niece to call emergency medical services (EMS).\nThe patient was emotionally labile and could not remember his name or address at the time of presentation. He was hyperverbal and difficult to interrupt, and his speech was disorganized. The patient stated that prior to admission, he left his home and suddenly could not remember how he got to the location he had traveled to. He then returned home and entered the bathroom to look for a belt to hang himself with, because he could not remember any of the evening's events. He stated that he felt lonely and helpless and that he had suicidal thoughts. The patient stated that his sleep had been poor. He endorsed a perceptual disturbance of seeing fleas that were trying to infest his body. He also endorsed an auditory hallucination of a male voice calling his name. Collateral information from his niece, who called the EMS, revealed that the patient had been acting bizarre with two previous episodes of new-onset wandering behavior in the past six months, both associated with heavy alcohol use. She also reported that the patient had a 15-year history of schizophrenia and that he had had similar episodes in the past, which were usually brief and resolved without the need for hospitalization. During a similar episode three years ago, the patient began attacking his family members and was hospitalized after the police were called. The patient also received a diagnosis of major depressive disorder five years ago. The patient was admitted to the inpatient psychiatry unit with a diagnosis of major depressive disorder. Urine toxicology at the time of admission was negative for controlled substances, illicit drugs, and alcohol. The patient's admission Complete Blood Count (CBC) and kidney liver function tests were within normal limits. Rapid regain test was negative. Serum sodium and potassium were 138mmol/L (136–144.0mmol/L) and 4.4mmol/L (3.6–5.1), respectively. Other routine urine analyses and coagulation profiles were also within normal limits as were routine chest radiograph and ECG. Serum thyroid stimulating hormone was below the lower limit of normal 0.409 uIU/ml (0.450–4,500 uIU/ml) and free T4 was 1.09 ng/ml (0.82–1.77 ng/dL). The patient had no symptoms of hyperthyroidism.\nOther chemical laboratory investigations were within normal limits except for dyslipidemia. Computerized tomography (CT) and magnetic resonance imaging (MRI) performed during admission revealed partial agenesis of the corpus callosum with the absence of the posterior body and the splenium as shown in .\nOn day 1 of hospitalization, the patient was hyperactive and restless on the unit. He was treated with escitalopram 10 mg PO daily and risperidone 2 mg PO BID. By day 2 of hospitalization, the patient was able to recall his name and his perceptual disturbances resolved, but he was still hyperverbal, with increased activity. By day 9 of hospitalization, the patient's condition had stabilized, and he was discharged.\nAccording to the patient's mother, the pregnancy was reported to be complicated at five months, and the patient was born at seven months. He had normal gross motor development, but language was delayed until the age of 7 years. The mother reported a history of cognitive developmental delay and intermittent behavioral disturbances that led to his dropping out of school in fifth grade.
A 69-year-old man was brought to the emergency room due to shortness of breath. The patient had diabetes and a history of cerebral infarction 10 years ago. The sequelae of cerebral infarction included slight motor weakness of the left leg that did not interfere with activities of daily life. He had received conservative treatment for symptoms such as myalgia, fever, and chills at a nearby hospital 2 weeks prior. He was transferred to Dankook University Hospital for shortness of breath that had started 1 day before admission. Left-sided hydrothorax was observed on an initial chest X-ray conducted in the emergency room. Consequently, thoracostomy was performed for chest tube placement. The drainage was also very turbid. Subsequent chest computed tomography (CT) revealed left thoracic empyema (). Laboratory tests revealed an initial C-reactive protein level of 30.76 mg/dL, a white blood cell count of 15.71×103/μL, and a negative tuberculosis test result. A pleural fluid culture study, the results of which came back on the sixth hospital day, showed the growth of Streptococcus constellatus and an anaerobe. The patient was admitted with the chest tube, and ceftriaxone and clindamycin were used as empirical antibiotics. When the total amount of drainage reached 1 L on the day of admission, tube clamping was performed considering re-expansion edema. The next day, natural draining resumed. From that day onward, redness, warmth, swelling, and tenderness were observed in the left flank. On the following day, symptoms worsened, and another CT scan was performed. On chest CT, signs of infection, including gas formation, were found in the soft tissue and the muscle layer of the left chest wall (). At this point, an internal medicine doctor contacted cardiovascular and thoracic surgery department, and we performed surgery immediately, after making a diagnosis of necrotizing fasciitis (NF). Surgery was performed under general anesthesia, with the patient in the right lateral position. Wide sterilization and draping were performed from the axilla to the buttock. An approximately 60-cm horizontal incision was made along the left flank from the scapula tip to the anterior superior iliac spine. There was a large amount of pus, and the anatomy of the muscle was indistinguishable due to severe infective necrosis. Necrotic tissues were removed, including those at the subcutaneous tissue, latissimus dorsi, teres muscle, serratus anterior muscle, and gluteus muscle, using a scalpel and electrocautery (). The surgery was completed with an open-dressing using betadine wet gauze. NF was confirmed by pathology (). The antibiotics were switched to meropenem and vancomycin as empirical therapy. Acinetobacter baumannii complex growth was noted in cultures of samples collected during surgery; therefore, we changed vancomycin to tigecycline based on antibiotic sensitivity. Wound irrigation and open dressing were performed daily under consultation with the orthopedic surgery department. On postoperative day 6, we applied negative-pressure wound therapy. Extubation was performed on postoperative day 12, and the patient was transferred to the general ward. On postoperative day 35, delayed wound closure was performed. C-reactive protein levels decreased gradually after surgery and reached 0.31 mg/dL at discharge. The patient was discharged from the hospital on day 98 and currently continues to be monitored via follow-up through outpatient visits.\nThe study was approved by the Institutional Review Board of Dankook University Hospital (IRB approval no., 2020-09-018). The requirement for informed consent was waived.
A 29-year old female diagnosed with SLE for 4 years complicated with grade II lupus nephritis presented with status epilepticus. She denied a history of fever on admission, but was treated with cyclophosphamide 1 month prior for an episode of cerebral lupus. She had noticed a papule over the left deltoid region which progressed to an ulcer over 1 week. Fever was noted following several days of hospital admission and the ulcer site became painful. She had worked in paddy fields several months prior to the admission when she was in good health. However, she could not recall any precipitating injury at the affected site during working. She is a mother of two and both pregnancies were uncomplicated. She denied history of alcohol abuse or smoking.\nOn examination she was emaciated and had a GCS score of 15/15 following recovery of status epilepticus. There was no obvious lymphadenopathy. At presentation, the size of the ulcer was about a 3 cm lesion and it gradually developed in to an ulcer with a necrotic center with surrounding erythema. A tentative diagnosis of pyoderma gangrenosum was made with the appearance of the ulcer (Figure ). It gradually advanced into the underlying muscle over 3 weeks of onset despite the antibiotic treatment. Examination of the cardiovascular, respiratory systems, and the abdomen was normal.\nHer full blood count, blood picture, and other supportive investigations showed evidence of microangiopathic hemolytic anaemia, which was suggestive of thrombotic thrombocytopenic purpura which resolved following plasmapheresis. Her ESR was persistently normal. Renal functions were stable during hospital stay, so were the liver profile. Chest radiography revealed evidence of bilateral mild pleural effusions and echocardiography revealed a thin rim of pericardial effusion and good cardiac function. MRI, MRA brain showed evidence of Posterior Reversible Encephalopathy Syndrome. Repeat imaging showed resolved changes.\nA punch biopsy of the skin was done from the lesion and sent for fungal studies and histopathological studies. The direct microscopy examination revealed wide and irregular ribbon-like nonseptate hyphae with right-angle branching suggestive for Mucormycete fungi. Culture was done on Sabouraud dextrose agar with chloramphenicol (at 26°C and 37°C) yielded a white aerial mold, which covered the entire surface of the agar and came up to the lid of the culture bottles after 4 days of incubation (Figure ).\nThe lactophenol cotton blue mount of the growth revealed broad, nonseptate hyaline sterile hyphae. The slide culture test has been attempted with the hope of sporulation, however it was not successful. They only resulted in broad, nonseptate hyaline sterile hyphae without spores. Then the isolate was subcultured on to potato dextrose agar (PDA) and Rose Bengal (RB) agar for induction of sporulation. However, they yielded only sterile mycelia.\nThe isolate was inoculated on nutritionally deficient medium, tap water agar and incubated for 14 days at 37°C. It provided a hazy view of flask shaped sporangium with rhizoids in lactophenol cotton blue mount. Then floating agar method was used and it yielded characteristic flask-shaped sporangium in short sporangeophore with rhizoids after 10 days of incubation (Figure ).The sporangia had a long neck and the apex of the neck closed with a mucilaginous plug. The sporangiospores were cylindrical, with rounded ends. Those morphological features were suggestive for S. vasiformis and the isolate was identified as S. vasiformis.\nThe histopathology of the punch biopsy of the skin also reveled broad aseptate hyphae suggestive of Mucormycetes group of fungi.\nBased on the histopathological evidence of broad aseptate hyphae, suggestive of Mucormycete fungi, the patient was started on IV amphotericin B deoxycholate. Repeated surgical debridement was done and samples were sent for fungal studies. However, local application of antifungals was not included in the management. Her second tissue biopsy, which was taken during debridement after 5 days of IV amphotericin B also had similar direct microscopy findings and yielded S. vasiformis. However third tissue sample which was obtained after 10 days after IV amphotericine B deoxycholate became negative for fungal studies. Following the confirmation of sterile cultures from the subcutaneous biopsies, superficial skin grafting was done which was completely accepted from the wound site. She was treated with intravenous conventional amphotericin B for 28 days and she was asymptomatic when she was discharged from the ward.
A 62-year-old woman presented acutely with severe sudden onset left-sided abdominal pain and several episodes of diarrhea with blood mixed in with stool. Her past medical history included coeliac disease and hypertension that was well controlled with ramipril 10 mg daily. On admission, observations were: temperature 36.4°C, blood pressure 115/50 mmHg, heart rate 75 bpm, respiratory rate 16, and oxygen saturations of 99% breathing on air. Examination revealed localized peritonitis of the left abdomen, and rectal examination showed altered blood with no stool. A computed tomography (CT) scan of her abdomen and pelvis showed an appearance consistent with colitis involving the transverse and sigmoid colon, the distribution suggesting ischemic colitis. She was initially managed conservatively with analgesia and intravenous antibiotics. Flexible sigmoidoscopy the following day showed an ischemic splenic flexure, and the decision was made for the patient to undergo a laparotomy. Preoperatively, the patient remained normotensive.\nOn the second day of her admission, the patient was taken to theater for a laparotomy. A low thoracic epidural was attempted for postoperative pain relief; however, the procedure was abandoned after one attempt due to a dural tap. Consequently, the patient had general anesthesia with systemic opioid analgesia and a rectus sheath block. Intraoperative findings revealed an ischemic left colon and proximal sigmoid colon; therefore, she underwent a Hartmann’s procedure. Intraoperatively, the patient remained hemodynamically stable, with an average blood pressure of 120/60 mmHg. Postoperatively, the patient was commenced on a morphine patient-controlled analgesia for pain relief and was anti-coagulated for the ischemic colitis. Investigations towards underlying conditions likely to have caused the ischemic colitis were also carried out. Screening for presence of the anti-phospholipid antibody, JAK2 mutation, and thrombophilia proved negative.\nPostoperatively, the patient developed an ileus. This was managed conservatively with nasogastric drainage and intravenous fluids. Her blood pressure rose from an average of 150/80 mmHg on postoperative day 1 to 190/80 mmHg on postoperative day 3, despite remaining on her usual dose of ramipril. On postoperative day 3, the patient complained of a frontal headache and “cloudy vision.” The headache and rising blood pressure was initially thought to be due to postoperative pain and dural tap; on postoperative day 3, she was commenced on a second antihypertensive, amlodipine. On postoperative day 4, headache, severe hypertension, and worsening vision continued. Neurological examination revealed no focal abnormality; however, fundoscopy showed blurred discs but no retinal hemorrhages or exudates. The patient was commenced on bisoprolol and underwent an urgent CT head scan ().\nThe CT head scan revealed bilateral areas of low attenuation in the left occipital lobe and to a lesser extent in the right occipital lobe. There were also some patchy areas of low attenuation in the right and left cerebellar hemispheres. There was neither mass effect nor enhancement.\nA subsequent magnetic resonance imaging scan of the head and magnetic resonance venography () showed patchy white matter edema most markedly in the occipital lobes but extending anteriorly to reach the frontal lobes, consistent with PRES.\nDespite these findings, blood pressure continued to be controlled with oral medication. However, on postoperative day 6, the patient developed status epilepticus. Repeat head CT excluded an intracerebral bleed. The patient was loaded with intravenous phenytoin, intubated, and blood pressure was tightly controlled with a mean arterial pressure of 85 mmHg. The patient was extubated the following day. Blood pressure continued to be tightly controlled with regular antihypertensives, and she remained on phenytoin to prevent further seizures.\nThe patient continued to improve and was discharged 21 days postoperatively with blood pressure controlled (systolic readings of 120–130 mmHg) on her usual dose of ramipril plus 10 mg amlodipine daily. The only residual neurological defects that she experienced on discharge were minor visual disturbances and memory problems.
A 20-month-old female patient and her parents visited our Department of Pediatrics for severe ataxia and developmental delay. The patient was born at 40 weeks of gestation by normal vaginal delivery with a birth weight of 2 980 g. No specific perinatal history or family history of neurological disease or developmental delay was found. The patient showed severe developmental delay and could not sustain a sitting posture by herself with hands on the bottom due to severe ataxia, although she could turn her body over and creep on her belly. On neurological examination, she presented a marked psychomotor delay with severe truncal ataxia and mild axial hypotonia. Conventional MRI of the brain was taken and showed hypoplasia of the cerebellar vermis and enlargement of the fourth ventricle, indicating Dandy-Walker malformation. She had also undergone diffusion tensor MRI to estimate the status of the subcortical neural structure. Other genetic disorder or metabolic disease evaluations showed no specific findings. She was transferred to the pediatric rehabilitation center. The patient received comprehensive rehabilitative therapy for approximately 10 months, and showed considerable improvement in the ataxia and trunk control. At the commencement of rehabilitation, the patient could not sit independently. The functional ambulation category was used to assess the functional level[]: 0, non-ambulatory; 1, needs continuous support from one person; 2, needs intermittent support from one person; 3, needs only verbal supervision; 4, help is required on stairs and uneven surfaces; 5, can walk independently anywhere. The initial functional ambulation category score before rehabilitative therapy was 0. For measurement of ataxia, Berg's balance scale was also used[] by estimating the performance of functional tasks. The ability to maintain balance while performing a chain of 14 tasks (sit to stand, stand to sit, stand and sit unsupported, transfer from bed to chair, stand with eyes closed, stand with feet together, reach forward, pick up an object from the floor, single leg stance and tandem standing, turn and look over each shoulder, turn 360°, and stepping) was examined. A 5-point scale ranging from 0 to 4 was used, with a total score of 56. The initial score in the patient was 0. However, at 10 months after rehabilitation therapy, she was able to stand alone with assistance and to walk independently with a walker on an even floor. The functional ambulation category scores and Berg's balance scale scores were re-measured at 10 months after therapy, along with MRI and diffusion tensor imaging (). The follow-up result of conventional MRI showed no definite interval changes, compared with that of initial conventional MRI ().\nDiffusion tensor imaging was also performed on six healthy, age-matched children (two males and four females, total: mean age 24.3 months, range 19–33 months; two males: mean age 24 months, range 19–29 months; four females: mean age 24.5 months, range 19–33 months). Control subjects were volunteers whose parents applied for this study. All participants in the control group had no specific pre/perinatal medical history or developmental delay. The developmental state and neurological examination of control subjects were evaluated by a pediatric neurologist. There were no definite abnormal neurologic findings or delayed development state. The Kolmogorov-Smirnov test was used to determine the normalities of variable distributions (P > 0.05)[]. Pearson's correlation analysis was also conducted to estimate the influence of postnatal months on the fractional anisotropy and apparent diffusion coefficient values in each cerebellar peduncle. We found no correlations between various diffusion tensor imaging parameter and postnatal months in the superior cerebellar peduncle, middle cerebellar peduncle, or inferior cerebellar peduncle (correlation coefficient R2 = 0.14, 0.17, and 0.01, respectively).\nDiffusion tensor imaging data were acquired using a 1.5 T Philips Gyroscan Intera system (Hoffman-LaRoche, Mijdrecht, Netherlands) equipped with a synergy-L sensitivity encoding (SENSE) head coil using a single-shot, spin-echo planar imaging pulse sequence. For each of the 32 non-collinear and non-coplanar diffusion sensitizing gradients, the 67 contiguous slices were acquired parallel to the anterior commissure- posterior commissure line. The imaging parameters were: matrix, 128 × 128; field of view, 221 × 221 mm2; echo time, 76 ms; repetition time 10 726 ms; sensitivity encoding factor, 2; echo planar imaging factor = 59 and b = 1 000 mm2/s; number of excitations, 1; and a slice thickness of 2.3 mm. diffusion tensor imaging datasets were preprocessed using the Oxford Center for Functional Magnetic Resonance Imaging of Brain Software Library. Eddy current-induced image distortions and motion artifacts were removed using affine multi-scale two-dimensional registration[]. Three cerebellar peduncles (superior cerebellar peduncle, middle cerebellar peduncle, inferior cerebellar peduncle) were evaluated using diffusion tensor imaging -Studio software (CMRM, Johns Hopkins Medical Institute, Baltimore, MD, USA)[].\nFiber tracking was based on the fiber assignment continuous tracking algorithm, a brute-force reconstruction approach, and a multiple regions of interest approach. The cerebellar peduncles were identified by choosing the fibers that passed through both regions of interests on the color map. Region of interest 1 was assigned to the junction of the superior cerebellar peduncle between the upper pons and cerebellum on the coronal view, and region of interest 2 to the area between the lateral wall of the fourth ventricle and the inferior cerebellar peduncle at the fourth ventricle level on the axial view. Region of interest 1 represented the ventral junctional area of the middle cerebellar peduncle between the pons and cerebellum, and the caudal junctional area of the middle cerebellar peduncle on the coronal view. For the inferior cerebellar peduncle, region of interest 1 represented the restiform body (blue), and region of interest 2 represented the caudal part (green) to the superior cerebellar peduncle on the axial view at the upper pons level[]. Fiber tracking was started at the center of the seed voxel with an fractional anisotropy value greater than 0.2 and ended at the voxel with a fiber assignment lower than 0.2 and a tract turning-angle lower than 60°. The fractional anisotropy values and apparent diffusion coefficient of each of the cerebellar peduncles were estimated and defined abnormal as a lesion with fractional anisotropy and apparent diffusion coefficient values deviating more or less than two standard deviations below those of normal control values.\nAll three pairs of cerebellar peduncles were well detected in all control subjects as a known anatomical pathway. No significant differences were observed between diffusion tensor imaging parameters of the right and left superior cerebellar peduncle, middle cerebellar peduncle, or inferior cerebellar peduncle in control subjects. The results of the initial diffusion tensor tractography in the patient revealed that the superior cerebellar peduncle and middle cerebellar peduncle were well detected, but that the inferior cerebellar peduncle was not detected in either hemisphere. No significant differences in fractional anisotropy and apparent diffusion coefficient values were found between the right and left superior cerebellar peduncle and the middle cerebellar peduncles in the patient. As such, we used the mean values of both hemispheres.\nInitial diffusion tensor imaging results showed that the fractional anisotropy values of the superior cerebellar peduncle and middle cerebellar peduncle decreased by two standard deviations below that of normal control values, and that the apparent diffusion coefficient values increased by two standard deviations. In the follow-up evaluation, both fractional anisotropy and apparent diffusion coefficient values of the superior cerebellar peduncle were within two standard deviations of control subjects. By contrast, the middle cerebellar peduncle showed increased fractional anisotropy and decreased apparent diffusion coefficient values, but remained below two standard deviations of normal control values. The inferior cerebellar peduncle was not detected by the initial diffusion tensor tractography.\nHowever, at the 10-month follow-up, diffusion tensor tractography revealed both inferior cerebellar peduncles, although the fractional anisotropy had decreased by two standard deviations below normal control values, and the apparent diffusion coefficient had increased by two standard deviations ( and ).
A previously healthy 14-year-old woman of Jewish descent presented to hospital in April 2010 with sudden bilateral vision loss. She had an uneventful family history, no siblings and no evidence of consanguinity. She was a lifetime non-smoker and denied use of alcohol and drugs. Her past medical history included an unremarkable childhood with no developmental problems. She was known to have hypothyroidism and ovarian cysts.\nUpon admission, she was found to be severely hypertensive and fundoscopy showed hypertensive retinopathy with retinal hemorrhages and bilateral retinal detachment. A cranial magnetic resonance imaging was done, which showed normal findings. Laboratory studies showed acute renal failure, thrombocytopenia and microangiopathic hemolytic anemia. Serum complement levels were normal. Although the ADAMTS13 (a disentegrin and metalloproteinase with a thrombospondin type 1 motif member 13) level was <5%, no antibodies were detected and genetic studies confirmed no mutation. Genetic testing for atypical HUS was also negative. She was screened for membranoproliferative glomerulonephritis, but there was no disease-causing mutation found in the C3, APLN or THBD gene. A renal biopsy showed severe thrombotic microangiopathy with 3 out of 24 glomeruli globally sclerosed with moderate interstitial fibrosis and tubular atrophy (Figure ).\nGiven these findings, she was treated for suspected thrombotic thrombocytopenic purpura (TTP) with a course of steroids and 12 sessions of plasmapheresis. She initiated hemodialysis, which was discontinued after 6 months as she recovered some renal function. Four months later she was thought to have a relapse of TTP and again was treated with steroids and plasmapheresis for a few days. Of note, a repeat ADAMTS13 level done at that time was normal.\nIn 2013, she remained stable with Stage 4 chronic kidney disease (CKD). Her vision returned to normal with a normal eye examination that showed resolution of her retinal hemorrhages. An abdominal ultrasound showed increased echogenicity of the renal cortical tissue of the right and left kidneys, which measured 8.7 and 9.9 cm, respectively. A transthoracic echocardiogram (TTE) showed normal left ventricular size and function with a left ventricle ejection fraction (LVEF) >55%, normal right ventricle size and systolic function, mild-to-moderate mitral regurgitation and no evidence of pulmonary hypertension based on the right ventricular systolic pressure (RVSP).\nOver the next 2 years, she developed worsening dyspnea on exertion until November 2015 at which point she was admitted to hospital with New York Heart Association (NYHA) Class 3 symptoms, peripheral edema, abdominal distension and weight gain. A repeat TTE at that time showed significant changes with mildly decreased left ventricular (LV) systolic function (LVEF 50%) and findings suggestive of right ventricular pressure and volume overload, specifically a RVSP of 65 mmHg, moderate pulmonary regurgitation, severe tricuspid regurgitation, severely enlarged and thickened right ventricle and a 14-mm pericardial effusion (Figure ).\nShe underwent extensive work up for idiopathic PAH. A ventilation–perfusion scan showed a low probability for pulmonary embolism. Right heart catheterization showed severe pulmonary hypertension (Table ). On pulmonary function testing she had an FEV1/FVC ratio of 78%, a decreased FVC and FEV1 at 2.5 and 2, respectively, a decreased total lung capacity at 4.2 and a diffusing capacity for carbon monoxide of only 6.7 (32% of predicted). Computed tomography thorax identified an enlarged pulmonary artery at 42 mm, a moderately sized pericardial effusion, extensive centrilobular ground glass nodules throughout both lungs and some interlobular septal thickening in the right lower lobe.\nOn this presentation, she was commenced on bosentan for idiopathic PAH. Despite this, she experienced further decompensation and was started on sildenafil. She continued to show no improvement in her symptoms and she progressed to requiring home oxygen. During this period, at age 20 years, she progressed to end-stage renal disease and was commenced on dialysis. Unfortunately, her RVSP did not improve following initiation of dialysis (Table ).\nIt was considered that her PAH could represent extra-renal manifestations of thrombotic microangiopathy (TMA). As a result, she was considered for treatment with an anti-complement C5 monoclonal antibody, eculizumab. In the process of her work up, she was investigated for cblC deficiency, by measuring plasma homocysteine levels and MMA levels. Laboratory testing revealed a considerably elevated homocysteine level (124 nmol/L) and an elevated MMA level that was 100-fold over the expected level for patients with renal failure (80.15 μmol/L) (Table ). She was noted to have normal folate and vitamin B12 levels. Molecular genetic analysis of the MMACHC gene revealed that she was positive for two heterozygous pathogenic variants confirming a diagnosis of cblC deficiency. These variants were c.271dupA, p.Arg91Lysfs14, heterozygous (autosomal recessive condition) and c.276G>T, p.Glu92Asp, heterozygous (autosomal recessive condition).\nTreatment with 1 mg IM hydroxycobalamin, 3 g PO TID betaine, 5 mg PO OD folic acid and 660 mg PO TID carnitine was initiated. She subsequently reported significant improvement in her dyspnea to NYHA Class 1 and no longer required supplemental oxygen. A repeat TTE showed normal LV size and function with a markedly improved right ventricular (RV) size and function (Figure ). A repeat right heart catheterization also showed significant improvement (Table ). Overall, she demonstrated an excellent response to treatment with a significantly improved hemodynamic profile and resolution of her PAH.\nRenal function also improved. After 15 months on hemodialysis the patient regained enough renal function so as to stop dialysis. At the time of writing she has been off dialysis for 6 months with an estimated glomerular filtration rate of 12 mL/min (CKD-EPI).\nWritten informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this Journal.
A 65-year-old male, presented with crescendo angina on minimal exertion and was diagnosed with a non-ST elevation myocardial infarction. He had a background history of type 2 diabetes mellitus (T2DM), ischaemic heart disease with a previous myocardial infarction 11 years prior, hypercholesterolaemia, hypertension and a long-standing history of smoking.\nA preoperative transthoracic echo (TTE) revealed left ventricular hypertrophy with an ejection fraction of 75%, no mitral or aortic valve abnormalities and trivial tricuspid regurgitation. He was scheduled for a coronary artery bypass graft (CABG) procedure 5 days after his initial presentation. TOE is used routinely at our institution for all cardiac procedures as part of routine monitoring and patients are consented for its use.\nThe procedure was complicated surgically by poor targets for revascularization leading to a longer-than-expected case. Following an apparently easy and what was described as an atraumatic placement of the TOE probe, the anaesthetist had difficulty obtaining clear TOE images. The transgastric views in particular were noted as being unusual and a second cardiac anaesthetist was called on for assistance. The TOE probe was removed and reinserted presumably in an attempt to improve image quality and exclude any previously undetected damage on the TOE probe transducer that could explain the poor image quality. On removal of the probe, it was noted that there was fresh blood on the probe and further blood was suctioned from the pharynx. On reinsertion, it was still not possible to obtain good-quality views and the transgastric views in particular were still noted to be abnormal.\nAfter the initial attempt post revascularization to separate from cardiopulmonary bypass failed, the decision was made to go back on to bypass to initiate further cardiac support. The patient stabilized after insertion of an intra-aortic balloon pump (IABP) and initiation of 0.1 µg/kg/min of adrenaline for transfer to the intensive care unit (ICU) post-operatively. Total theatre time was more than 9 h. On arrival in ICU, the attending anaesthetist noted their concerns regarding the problems with obtaining TOE images and the possibility of oesophageal injury.\nThe patient was taken back to theatre later that night for a re-exploration and a clot was discovered and removed from the chest. He required further blood and products post-operatively with an increased adrenaline requirement on return to ICU. The diagnosis of oesophageal perforation was made the next morning following a failed attempt at nasogastric tube (NGT) placement and after appropriate further investigation. A gastroscopy performed in the ICU revealed an undiagnosed hiatus hernia and an oesophagogastric perforation.\nThe oesophagogastric perforation was initially managed conservatively with the placement of a covered gastric stent. Unfortunately, the patient became septic after a few days and developed a ventilator-acquired pneumonia, most likely due to the ongoing free reflux post stent placement. A follow-up chest CT scan revealed that a collection had developed around the perforation. Thirteen days post CABG, he returned to theatre for a thoracotomy and drainage of the peri-oesophageal collection.\nThe patient’s time in ICU continued to be complicated as he developed a right hemiparesis, required ongoing inotropic support, failed attempts at extubation and remained dependent on the IABP support. His pneumonia continued to worsen with ongoing subclinical aspirations. Despite drainage of the peri-oesophageal collection, he developed worsening sepsis and passed away in ICU on day 25 post surgery.\nThis case highlights the potentially devastating consequences of an oesophageal perforation following the use of TOE. The inability to obtain clear TOE images (transgastric in particular), and the presence of fresh blood on removal of the TOE probe, should alert the clinician to a potential oesophageal perforation as part of their differential diagnosis. In this case, the undiagnosed hernia may have further contributed to the difficulty obtaining good TOE images. In addition to pre-existing patient risk factors, as discussed below, excessive TOE probe manipulation and the need for a prolonged period of cardiopulmonary bypass (CPB) are further risk factors for TOE-associated oesophageal perforation. Despite the prompt diagnosis of oesophageal perforation and the institution of appropriate management, the associated risks of oesophageal perforation are brought to the attention of the reader. In this case, despite the early diagnosis, the patient unfortunately did not recover after surgery.
A 62-year-old woman (Figure , II-3) was admitted to the hospital for recurrent partial headache with weakness of one side and aphasia for about 45 years. In her first attack, the patient suddenly experienced an aura with visual disturbances which she described as increasing scotomata in the bilateral visual field. After a few seconds, the patient developed a serious headache, mainly located on the left side. After a few minutes, she presented a paralysis of the right side and speech difficulties accompanied by dizziness and vomiting. These symptoms resolved after about 2 h. After this initial onset, she had an attack nearly every 4–5 years, and the clinical presentations of her attacks were always similar to the first one. The duration of the aura symptoms and the migraine was typically 1–2 h but sometimes the migraine could last up to 4 days. Sometimes headaches occurred before the hemiplegia and aphasia. Each headache was accompanied by dizziness and vomiting but without loss of consciousness. In most attacks, this patient experienced additionally a flushing of the neck and face and felt that the skin temperature of this affected area was increased, but the temperature was never measured. These symptoms may be related to an extracranial vasodilation when a migraine attack occurred. She did not undergo regular treatment except for simple analgesics as a symptomatic therapy. Recently, her condition aggravated as the frequency of attacks increased from once every 4–5 years to once every 1–2 weeks which had a serious impact on her everyday life. Therefore, during a severe migraine attack, she visited our hospital. We reviewed her family history, and we found that three other subjects, her mother, brother, and nephew, had similar clinical symptoms (Figure ). Their presentations are as follows:\nThe proband's mother (Figure , I-2) died of uremia at the age of 72. According to her husband and children, she reported typical hemiplegic migraines since an age of 14 years with five attacks per year on average. The aura symptoms were similar to those in the proband, including bilateral visual symptoms (scotomata), speech difficulties, and hemiparesis.\nThe proband's 55-year-old brother (Figure , II-1) had first at the age of 15 headache attacks with nausea, vomiting, visual field defects, and one-sided motor weakness. Usually, these attacks last 5 h. The disease presentation was progressive with age.\nThe proband's nephew (Figure , III-1), a 25-year-old fitness coach, had first headache attacks with visual symptoms (scotomata) and lateralized motor weakness at the age of 13. Each attack lasts about 20 min.\nAfter admission, her neurological examinations were unremarkable and brain magnetic resonance imaging (MRI) and Magnetic Resonance Angiography (MRA) showed no meaningful abnormalities (Figure ). Thus, the suspected diagnosis was transient ischemic attack (TIA). During her hospitalization, the patient had several migraine attacks that were characterized first by visual symptoms, then aphasia and right limb paralysis 10 min later, and finally severe headaches after 20 min. At that time, the neurological examination revealed: no loss of consciousness, motor aphasia, muscle strength 2 in the right limb, and normal findings in the examination of the residual nervous system. After about 1 h, the symptoms of the aura were relieved, while the headache lasted for about 1 day. However, the symptoms were not relieved after dual antiplatelet aggregation treatment, and transthoracic echocardiography and carotid ultrasound failed to identify any underlying cerebrovascular etiology. After careful consideration of all aspects, she was diagnosed with hemiplegic migraine. So, we conducted a genetic test on the patient and found a heterozygous point mutation (c.4495T>C) in exon 26 of the SCN1A gene. This mutation caused amino acid 1499 to change from phenylalanine to leucine (p. Phe1499Leu), which may cause the disease by affecting the SCN1A protein function.\nTo establish the diagnosis, we performed a genetic test on those family members to analyze for the presence of mutations in genes including CACNA1A, ATP1A2, and SCN1A related to FHM. We only found a gene mutation in SCN1A, but this mutation was detected in all affected subjects in this family (Figure ). Therefore, this patient was diagnosed with FHM3. She was discharged after receiving a health education on migraine attacks, which suggested her staying away from stress, bright lights, sleep disturbances, physical exertion, and alcohol consumption because these have all been reported as trigger factors in FHM (). Upon being discharged from the hospital, she had intermittently taken flunarizine capsules and rizatriptan benzoate tablets to prevent and control migraine attacks. After 6 months of follow-up, the efficacy of the drug was uncertain, because the frequency of headache attacks was not adequately reduced. After the low efficacy of her medication became clear, we consulted again the literature and consider now a trial with lamotrigine or acetazolamide ().
A 30 year old nulliparous Nigerian woman of the Igbo tribe presented for antenatal care at 24 weeks gestational age. She had two visits to the hospital before she presented to the hospital as an emergency. After a review by the obstetrician, she was admitted to the antenatal ward and a consult sent to the neurologist for a review.\nThe patient gave a two year history of blurring of vision, followed a month later by generalized headache that was worse on bending. The headache had intensified since becoming pregnant. Of recent there had been associated vomiting. There was also a history of menstrual irregularities, urinary frequency and protrusion of the right eye. She did not report any weakness in the limbs or trauma to the head or eye. She had visited an ophthalmologist where she was treated on outpatient basis.\nPhysical examination revealed a young woman in painful distress, conscious and well oriented. She was not pale, icteric or febrile to touch. Blood pressure on admission was 120/80 mmHg and pulse rate was 76 beats per minute, regular and of good volume.\nExamination of the central nervous system revealed proptosis of the left eye and a blind right eye. There was temporal visual loss with reduced acuity in the left eye. Fundoscopy showed established optic atrophy in the right eye with early optic atrophy changes in the left eye. Other cranial nerves were intact with no sign of meningeal irritation. There were no asymmetries in the limbs. The possibility of an intracranial space occupying lesion was entertained.\nRelevant investigations were ordered. A computerized tomography (CT) scan of the brain showed a large pituitary tumour (>10 mm) with pressure effects, occluding the anterior horn of the left lateral ventricle. The other ventricles were dilated.\nThe results of other investigations were as follows - serum prolactin 250 ng/ml (6.0-24), serum T3 2.4 ng/ml (0.6-1.6), serum cortisol 310 ng/ml (50-230) and fasting blood sugar 69 mg/dl (65-110). Abdominopelivic ultrasound scan revealed a live singleton fetus at 33 weeks with cephalic presentation and anterior placenta. The fetal heart rate was 130/minute.\nA diagnosis of pituitary macroadenoma with mass effect was made.\nThe symptoms gradually regressed with good clinical improvement. After sixteen day of admission, the patient went into premature labor at 34 weeks and five days. After a review by the obstetricians, she was booked for emergency caesarean section and the anesthetists were informed.\nBecause the CT scan showed evidence of raised intracranial pressure, general anesthesia with the relaxant technique was used with sodium thiopentone, non-depolarizing muscle relaxant, opioid analgesics and oxygen/air. Sodium thiopentone was used for maintenance of anesthesia in intermittent bolus doses as that would prevent further rise in intracranial pressure and the possible risk of bleeding if the available volatile agent, halothane was used. Anesthesia by the corresponding author was uneventful and the patient recovered satisfactorily. She was taken to the intensive care unit for postoperative care and close monitoring.\nShe recovered full consciousness in ICU. On the second postoperative day, she was resumed on oral bromocriptine with the following postoperative drugs; ampiclox, metronidazole, pethidine and promethazine. The following day, she had complained of restlessness before she was discharged to the ward on the third postoperative day by 2 pm in fairly satisfactory condition. Later that day at about 11:30 pm, the duty doctors were called to see the patient on account of sudden and sustained rise in blood pressure. On examination she was unconscious and afebrile. The blood pressure was 210/110 mmHg and the pulse rate was 150 beats per minute.\nA diagnosis of accelerated hypertension with encephalopathy was made and the following drugs prescribed; intravenous bolus dose of hydralazine 5 mg stat, then 40 mg in a litre of 5% dextrose in water to run at ten drops per minute with quarter hourly monitoring of blood pressure. About 15 minutes later the patient started gasping and went into cardiac arrest. Attempts at resuscitation failed. An autopsy was not done.
A 28-year-old male visited our clinic with a chief complaint of poor esthetics in the maxillary anterior region. The patient was in good general health, and his medical and dental history indicated no contraindications to dental treatment.\nThe right maxillary central incisor had previously been restored with a porcelain veneer, while the right lateral incisor was inclined labially and distally. This resulted in spaces of 1.5 and 1.0 mm on the mesial and distal proximal area of the central incisor, respectively. Intraoral examination indicated that the right central incisor was elongated along with gingival recession. Radiographic examination revealed a large diameter metal post, bone resorption of up to one half of the resorbed short root, and a fracture in the middle of the root. Moderate bone resorption was also observed on the mesial aspect of the right lateral and left central maxillary teeth. Deep caries was found under the veneer and along the post space on the right central incisor (Fig. –).\nThe treatment plan consisted of the following items:Initial preparation with scaling and root planing Orthodontic extrusion and extraction of the right maxillary central incisor Implant placement with a bone grafting procedure A second implant operation for an abutment connection Orthodontic treatment for the right lateral incisor Final restoration and retention\nAfter removal of the existing restoration and the provisionalization of the right maxillary central incisor, scaling and root planing and open flap curettage were carried out. Brackets were then placed onto maxillary right lateral incisor, central incisor, and left central incisor (12, 11, 21 according to FDI system) and extrusion of 11 was completed by using a sectional arch wire with anchorage on #12, #21 with light force(30~50 g) in an incisal direction. Initially, a 016(0.016 mm diameter) nickel and titanium sectional wire and then a 016 stainless steel sectional wire with horizontal loop were used (Fig. , ). Occlusal adjustments were made by grinding off the incisor area of the tooth. After 3 months, approximately 4 mm of tooth extrusion was achieved. (Fig. ). The tooth was extracted 1 month after completing the extrusion (Fig. , ). Six weeks after the extraction, a root form type implant (Osseotite Implant415, 3i )(4 × 15 mm) was placed into the site with tissue regeneration therapy using deproteinized cancellous bovine xenograft particles (Bio-Oss, Osteohealth) and enamel matrix derivative (Emdogain, Biora) and subepithelial connective tissue graft with dissolvable collagen membrane (Os-sx, Colbar) (10 × 10 mm) (Fig. , ). Five months after the initial implant surgery, a second surgery for flap reflection was performed and provisional restoration was done with a temporary cylinder fixed on to the implant (Fig. –). A second orthodontic treatment to move the right maxillary lateral incisor in the mesio-palatal direction was initiated at this time by applying brackets on the right maxillary canine and provisional crown of the implant (Fig. , ). Active tooth movement took 2.5 months, and 9 months retention was done with a wire-retainer cemented on the palatal side of the anterior teeth until a final implant crown was cemented on the abutment (Fig. –).\nAn esthetic implant-supported crown with symmetric soft tissue contours was achieved with the combined orthodontic extrusion, orthodontic alignment, and grafting procedures. The maintenance phase has been uneventful.\nOrthodontic treatment plays a major role in adult interdisciplinary dentistry. In this case, orthodontic treatments were applied in two stages. In the first stage, OE of the right maxillary central incisor was carried out. In the second stage, the flaring adjacent lateral incisor on the same side was corrected. The first orthodontic treatment made optimal implant placement possible because of regenerated hard and soft tissue after the extraction. In addition, the first stage facilitated esthetic restoration with regenerated alveolar bone and soft tissue [–].\nThe second orthodontic treatment was employed to correct the position and angulation of the lateral incisor using an osseointegrated implant as the orthodontic anchor.\nIt was important that these orthodontic treatments were not applied simultaneously or with the same force system (orthodontic term: combination of all the forces and moments acting on these teeth).\nThere were two reasons for selecting a staged approach instead of a simultaneous one. First, if these tooth movements were attempted simultaneously, not only would the extrusion of the central incisor not be effectively achieved, but also the mesio-palatal movement of the right lateral incisor could not be sufficiently controlled. Since a lateral incisor will move to an unhealthy bone-defected area close to a central incisor, there could be the risk of an attachment loss of the lateral incisor [–]. In contrast, a staged approach would not incur the risk of attachment loss of the lateral incisor because regenerative therapy was applied first [–].\nSecond, with an edgewise appliance, tooth movement can be controlled most efficiently when both adjacent teeth work as anchors [] (Fig. –), and a symmetric counteractive orthodontic force can be applied between adjacent teeth (Fig. –). It is impossible to simultaneously perform a 4-mm extrusion of a central incisor (4 mm vertical movement) and a 1.5-mm mesio-palatal movement of a lateral incisor (1.5 mm lateral movement) (Fig. ). Both an extrusion and a mesial movement of about 1 mm can be treated at the same time with one continuous arch wire using a leveling sequence []. However, it is not possible to move two teeth adjacent to each other in different directions and by different amounts using the same force system efficiently.\nOrthodontic treatments in adults carry higher risks, such as gingival recession, alveolar bone resorption, and root resorption, compared with those in children [, ]. When a continuous arch wire is placed on many teeth to provide anchorage, balancing forces can result in unintended outcomes. In this case, the movement of the lateral incisor was achieved in a short period of time by using only one adjacent tooth as anchor because the anchorage for the implant was already in place. Adverse effects of orthodontic force could be minimized because the orthodontic treatment was performed in the shortest period of time possible and in a limited treatment area. The staged approach of orthodontic treatment in this study was carried out with minimum intervention and maximum efficiency.
A 62-year-old man underwent a regular health check-up examination, which detected thoracic aortic aneurysm (TAA). So, he was admitted in the Department of Cardiothoracic Surgery. According to the patient's medical history, he had undergone a car accident 10 years ago and a motor cycle accident 18 years ago. The patient was asymptomatic initially, and a physical examination revealed no significant findings. The patient was on medications for hypertension, which was well under control. The American Society of Anesthesiologists physical status classification system denoted score of one for this patient. The Glasgow Aneurysm Score of this patient was 62 (62 [age in years] + 0 [7 for shock] + 0 [7 for myocardial disease] + 0 [10 for cerebrovascular disease] + 0 [14 for renal disease] = 62). The patient had not undergone any prior vascular surgery. He was hemodynamically stable with a blood pressure of 120/80 mm Hg.\nComputed tomography angiography revealed a saccular TAA having a maximum diameter of 63 mm at the greater curvature of the proximal descending thoracic aorta, which was located near the orifice of the left subclavian artery. Therefore, cardiac surgeons decided to perform hybrid TEVAR in zone 2 of this patient. The diameter and length of the proximal neck were 30 mm and 18 mm, respectively. The angulation between the top of the aortic arch and proximal descending thoracic aorta was 81 degrees. The distal neck was 26 mm in diameter without angulation. The radius of the aortic arch was 12 mm. Moreover, the neck of the saccular TAA was wide, having a width of about 5 cm (). In the CT, we could not detect any development of atheroma, plaque, or thrombus in this patient. So, there were no chances of developing embolism within the aneurysmal sac.\nAfter administering general anesthesia, we first performed bypass surgery on the left common carotid artery and left subclavian artery using an 8-mm vascular prosthesis. This surgery was conducted to maintain arterial flow to the left vertebral and subclavian artery. The proximal left subclavian artery was ligated to prevent type II endoleak. After conducting a successful bypass surgery on the patient, the right common femoral artery was accessed with two sets of Proglide (Proglide; Abbott, Redwood City, CA, USA) using the Preclose-technique. This procedure was performed to enable the entry of the stent-graft's introducer system. To perform control aortography, the left common femoral artery, which was located in the ascending thoracic aorta, was punctured with a 5-Fr marker catheter (Super Torgue; Cordis, Miami Lakes, FL, USA). An extra stiff Lunderquist Guidewire (Cook Medical, Bjaeverskov, Denmark) was inserted through the right common femoral artery sheath into the ascending aorta, over which a 22-Fr introducer system of Zenith Thoracic Pro-Form Endograft (36-157-32 mm; Cook Medical, Bjaeverskov, Denmark) was to be advanced at the target site. However, despite the use of an extra-stiff guidewire, the advancement of the introducer system failed repeatedly, because of a 5-cm wide-necked aneurysm at the greater curvature. A prolapse of the introducer system occurred repeatedly into the wide-necked aneurysm, because the guidewire was not supported by the aortic wall ().\nFirst, we gently tried transbrachial access through the right subclavian artery. The right subclavian artery was punctured and the snare was inserted; however, this method failed because it was not able to overcome the curvature describing the right subclavian artery, right brachiocephalic artery, and aortic arch.\nTo facilitate the passage of this introducer system to the target site, a compliant molding balloon (Reliant; Medtronic, Galway, Ireland), having a diameter of, was introduced through a 12-Fr sheath from the contralateral femoral artery. Thus, this balloon was placed within the aneurysm sac. When this compliant balloon was inflated, it created an artificial wall at the greater curvature that was strong enough to support the advancement of the introducer system into the target site. When the operator advanced the introducer system, an assistant pulled the occlusion balloon in inferior direction by carefully providing support to the introducer system. Thus, the assistant prevented an upward prolapse (). Finally, we were able to successfully advance the introducer system into the target zone () and deploy the stent-graft (). The patient was stable in the peri-operative period, so he was discharged on the sixth day after the operation. After the procedure, the patient did not exhibit any signs of neurological deficits or renal dysfunction. In the 2-year follow-up period, we periodically conducted CT-angiography of the patient. The CT-angiography revealed complete exclusion and shrinkage of the saccular aneurysm along with a patent left subclavian artery bypass graft ().
A 22-year old woman presented to our clinic with a palpable mass for 6 months. The mass was painless. Her medical history was not remarkable for any disorder. On physical examination she had a palpable mass filling the left upper quadrant and epigastrium. On laboratory examination she had normal levels of total protein, albumin, globulin, alanine aminotransferase, aspartate aminotransferase, blood urea nitrogen, serum creatinine, carbohydrate antigen 19–9 (Ca19-9), carcinoembryonic antigen (CEA) and alpha-fetoprotein (AFP). She also had negative serology for hepatitis B and C viruses. On ultrasonography there was a hypoechoic, solid mass with sharp contours and heterogenous pattern which had a size of 16 x 10 cm and diffuse cystic-degenerative areas and which appears hypervascular on Doppler USG (A). The described mass was considered to reside exophytically in the left lobe of the liver. An urgent abdominal tomography showed a giant solid mass that originated from the inferior part of the medial segment of the left lobe of liver and that extended inferiorly. Its size was approximately 17 × 15 x 11 cm. It had smooth contours and marked hypervascularity. It contained diffuse cystic-degenerative areas. A giant hepatic adenoma was primarily considered in the differential diagnosis, which also included liver tumors of mesenchymal origin or hepatocellular carcinoma on a non-cirrhotic basis (B).\nThe patient’s abdominal cavity was explored with a subcostal incision. There was a mass with smooth contours, measuring 15 x 12 cm in the left lobe of the liver, which grew exophytically. Other parts of the liver were normal. The mass’s portion out of the liver was of hypervascular appearance that compressed adjacent tissues but was easily separable from them. The mass was excised with liver tissue and gall bladder, with a negative surgical margin, with the help of an ultrasonic dissector and cautery. There was no additional lesion in the abdominal cavity ().\nThe macroscopic examination of the hepatic resection material revealed a tumoral lesion with a size of 14 × 12 x 13 cm and a cross-sectional color of yellow, which contained diffuse hemorrhagic and necrotic areas, 2 cm apart from the surgical margin. Sections prepared from the tumor showed that it was separated from the adjacent hepatic parenchyma with a clear border but showed infiltration of the parenchyma in a few foci (A). The tumor was highly cellular, the components of which were spindle in shape from place to place and epithelioid in most areas, and they had round-ovoid nuclei and abundant eosinophilic cytoplasm (B). There were interspersed cells that showed nuclear coarsening. Tumor’s background was highly rich in vascularity and there were interspersed free hemorrhagic foci.\nImmunohistochemical study showed negative staining with Pan-CK, Hep-Par, CD117. There was diffuse cytoplasmic positivity with HMB-45 (C) and SMA (D). The background rich vascular network was positively stained with CD34, CD31 and Factor 8 while tumor cells were not. Two mitotic figures were noted under 50 gross magnification. Morphological appearance and immunohistochemical study results suggested a PEComa. Although the criteria for malignancy have not been clearly defined for hepatic PEComas, considering a tumor size greater than 5 cm, presence of more than 1 mitosis under 50 GMA, and infiltrative growth pattern, which have been associated with tumor recurrence or metastatic process for soft tissue or gynecological tumors, the case was considered a malignant PEComa.\nThe patient was discussed in general surgery and oncology councils, which recommend no therapy. The patient recovered uneventfully, and no additional therapy was recommended. She was discharged 3 days after the surgery. She was put under close follow-up; her tri-monthly control tomographic examinations revealed no pathology. She is under follow-up without recurrence 10 months after the surgery ().
A 9-year-old female with no significant past medical or family history presented with a complaint of intermittent irregular sudden jerky movements in all the four limbs and head of 6-month duration. This abnormal movement started in the right lower limb which over the next 1 month progressed to the right upper limb, head, left lower limb, and then left upper limb. The movements used to occur asynchronously in the limbs and head lasting less than a second with no loss of consciousness, diurnal variation, clustering, and never in sleep. Because of the movements, the patient used to have occasional falls, slippage of objects from hand, and occasional spillage of food while eating. The frequency of jerks also progressed over 6 months []. For the first 3 months, these were the only symptoms. Then, 3 months from the onset, the patient started having drooling of saliva with progressive swallowing difficulty and speech problems. The symptoms progressed that at presentation the patient could eat only semisolid food with severe dysarthria and able to utter only few words. There was also inappropriate laughter. Simultaneously to the onset of bulbar symptoms, the patient also developed abnormal posturing of limbs which started in the right half of the body followed by the left with difficulty in walking and performing daily activities with hand. The posturing was associated with stiffness which used to get resolved completely in sleep. There was also poor attention with worsening performance in school. There was no history of convulsions, fever, headache, vomiting, visual complaints, motor weakness, sensory impairment, or bowel and bladder abnormalities. There was no history of jaundice, gastric complaints, bleeding tendency, or measles in the past. The patient was fully vaccinated according to the national vaccination program.\nOn examination, the patient was alert, conscious, inappropriately smiling with drooling of saliva, and persistently open mouth. Cognitive function was severely impaired. There was no auditory or visual abnormality with normal fundus examination, extraocular movement, and pupillary reflex. Kayser–Fleischer (KF) ring was evident in both eyes. There was repeated dystonic, synchronous, uprolling of both eyes without impairment in sensorium and other associated movements. Severe dysarthria and dysphagia were noted with tongue dystonia but with normal gag reflex and symmetrical palatal movement on vocalization. Motor system examination revealed generalized rigidity with normal power, normal deep tendon reflexes, and flexor plantar response. There was multifocal myoclonus involving head and all the four limbs predominately in the right half of the body. In addition, there was dystonic posturing involving all the four limbs. Sensory and cerebellar system examination was normal. On gait examination, the patient showed short shuffling gait with festination. Other system examinations were normal.\nRoutine investigation comprising complete blood count, renal function test, and liver function test was normal. Serum copper increased, serum ceruloplasmin reduced, and 24 h urine copper increased. Slit lamp examination confirmed KF ring in both eyes. Magnetic resonance imaging (MRI) of the brain revealed bilateral basal ganglia, thalamic, midbrain, and pontine hyperintensity consistent with WD []. Electroencephalogram (EEG) was normal despite multifocal myoclonus suggesting cortical origin. Ultrasonography of the abdomen did not reveal any liver abnormality.\nThe patient was diagnosed as a case of WD and started on pencillamine, zinc, and diet modification. Clonazapam was also added for myoclonus. The patient was discharged after initial observation. At 3-month follow-up, the patient had no myoclonus with improvement in extrapyramidal symptoms and static cognitive impairment.
A 68-year-old male, ex-serviceman, presented with a history of open prostatectomy (Millins). The procedure was operated elsewhere and presented with a complaint of a bulge in the abdomen along a previous scar site. He did not have any complaints of altered bowel and bladder habits. He did not have any other specific complaints. On evaluation, he gave history of surgery 1 year back. One year ago, he underwent Millins procedure for benign prostatic enlargement (BPE). This procedure involves removing part of the prostate using a transcapsular retro pubic approach (extra peritoneal) through a cut in the abdomen. Two weeks after the surgery, he developed abdominal wound dehiscence. Once the wound granulated well, he underwent secondary suturing of the abdominal wound after 2 months of surgery. He developed incisional hernia 3 months later. He continued to have protuberant abdomen with visible bowel peristalsis. He was reassured and advised to wear abdominal binder. On examination, his general condition was good. There was a bulge of size ~25 × 10 cm projecting from his anterior abdominal wall at the site of the previous scar ().\nA palpable midline rectus defect of 10 cm was noted. Visible bowel peristalsis was seen. Other system examinations were normal. Routine laboratory investigations were normal, and he did not have any comorbid illness. Computed tomography (CT) of the abdomen confirmed thinning of the rectus sheath with focal outpouching of rectus in the infra-umbilical region and herniation of small bowel loops with loss of domain (LOD) ().\nHe was planned for surgical exploration. On exploration, a defect in midline for ~8 cm in width was noted. Rectus was retracted laterally and could not be brought easily to the midline. Adhesiolysis was done. It was decided to go ahead with posterior component separation with TAR since the defect was very wide. The procedure commenced with the separation of posterior rectus sheath from the anterior rectus at ~1 cm from the midline where the previous linea alba was present. Retro rectus dissection was done till the level of linea semilunaris. Care was taken to preserve the neurovascular bundles encountered. Incision was made on internal oblique fascia and the transverse abdominis muscle was hooked and divided using an electrocautery. The transverse abdominis muscle fibers were released along its entire insertion line at the level of semilunaris extending from xiphoid process above. Inferiorly, it was separated till the level of arcuate semilunaris below which the muscles were deficient and only peritoneum was present. Laterally, the release process was extended till bilateral psoas muscles were visualized. Superiorly, it was extended till the central tendon of diaphragm. The posterior rectus sheath was approximated in midline using non-absorbable sutures after placement of intra-peritoneal drains. Polypropylene mesh of size ~30 × 15 cm was placed over the posterior rectus sheath covering in a sublay fashion and was secured. Suction drain tubes were placed over the mesh covering and the anterior rectus sheath was approximated in the midline without tension. Skin closed in the midline (). Daily vitals and drain output was monitored. After considerable decrease in drain output, it was removed on the fourth post-operative day. Abdominal sutures were removed at the end of second post-operative week. He was subsequently discharged a week later and was put on abdominal binder. Patient attended his routine outpatient visit after 2 weeks with no complaints.
A 65-year-old male was presented with his persistent back pain and daily pyrexia. He had suffered from chronic dyspnea on effort as a symptom of the chronic obstructive pulmonary disease and used home oxygen therapy of 2 l/min on occasional use. He had been followed up for non-small-cell lung cancer (NSCLC) of the left upper lobe (T2aN1M0), which was treated by the SBRT (50 Gy in four fractions) 4 years prior to the current visit. SBRT was effective enough to achieve complete response of the disease, and the patient had developed no evident recurrent disease so far. After the completion of SBRT, he occasionally complained about postprandial soreness in the upper chest for 4 years until the evaluation by the following clinical examinations.\nThe blood examination revealed marked leukocytosis and elevated level of C reactive protein (CRP) (\nTable\n). A computed tomography (CT) revealed thickening of the pleura and the soft tissue adjacent to the left side of the upper thoracic esophagus. The endoscopy revealed an esophageal perforation on its left side in the upper thoracic locus (\nFig.\n). With a diagnosis of the esophageal perforation and mediastinitis, he was referred to our department.\nSince his lung function was quite poor with a vital capacity of 2.31 l and a forced expiratory volume per one second (FEV 1.0) of 0.52 l, a conservative policy was favored. Enterostomy was established by a surgical operation, and he was followed up with a long-term prohibition of oral intake under the enteral nutrition. The inflammatory markers such as leukocyte count and CRP showed improvement, and the patient was discharged to be followed up by the regular surveillance by blood tests and CT.\nAfter 3 months, his back pain recurred with a sudden and steep worsening and he revisited our department on an emergency occasion. The patient developed paraplegia with muscle weakness in the lower extremities. An emergent CT demonstrated a spread of the periesophageal abscess which invaded and destroyed the vertebral body (\nFig.\n). The condition was emergently consulted to an orthopedician. The magnetic resonance imaging (MRI) revealed an abscess formation at the posterior side of the upper thoracic esophagus which penetrated and destroyed the intervertebral disc and vertebral body and compressed the spinal cord at the level of Th2–3 (\nFig.\n). His condition was considered as an indication of emergent surgery for an acute spinal cord injury, and the laminectomy of the Th2–3 and debridement of the malgranulation were performed (\nFig.\n).\nCitrobacter koseri\nand\nStreptococcus mitis\nwere isolated from the specimen of an epidural abscess. After the surgery, his neurologic symptom had gradually improved.\nThe first of the two-stage operation was performed 8 days after laminectomy: the first stage, nontransthoracic esophagectomy, cervical and transhiatal approach using mediastinoscope and laparoscope, described below (\nFig.\na), and the second stage, esophageal reconstruction.\nIn the first stage, the upper mediastinal manipulation was performed by a cervical approach via a collar incision and with mediastinoscopic guidance. There were firm adhesions between the dorsal side of the esophagus and the anterior vertebral ligament presumably caused by the esophagus perforation. After the dissections of the esophagus from the bilateral pleura, dissection of the dorsal side of the esophagus was performed and the perforated site of the upper thoracic esophagus was confirmed in the left-dorsal aspect of the esophageal wall. Subsequently, dissections between the left side wall of the trachea and the esophagus and between the anterior mediastinum and the esophagus were carried out. The left recurrent nerve was sharply dissected from the esophagus and preserved. After these transcervical procedures assisted by the mediastinoscope, the upper thoracic esophagus including the perforated site was free from attachments to the adjacent anatomical structures.\nFollowing to the abovementioned upper mediastinal manipulations, transhiatal approach for the middle and lower mediastinum was performed laparoscopically. Firstly, the anterior side of the esophagophrenic ligament was incised and the mediastinum was entered. The lower esophagus was dissected from the bilateral pleura, the pericardia, and the aorta. As the dissection proceeded to the cranial side beside the esophagus, the dissection was reached to the hollow space surrounding the upper thoracic esophagus which was created by the prior dissections via a cervical approach. Consequently, the whole thoracic esophagus was ready to harvest. After the esophago-gastric junction was transected, the mobilized esophagus was pulled up from the cervical incision. Finally, a cervical esophagostomy was placed in the left side of his neck and a 19-Fr drainage tube was inserted via the left side of his neck into the upper mediastinum (Fig.\nb).\nIn the second stage, surgery for reconstruction was performed 4 weeks after the first stage surgery (Fig.\nc). In the reconstruction surgery, gastric conduit was created with linear staplers via upper median laparotomy. The conduit was lifted via a subcutaneous route, and an esophago-gastric hand-sewn anastomosis (a single layer of Gambee sutures) was performed.\nAlthough left recurrent nerve palsy and anastomotic stricture occurred, the patient’s condition gradually improved with conservative treatment (swallowing rehabilitation and endoscopic bougienage) and he was discharged from hospital at 183 days after esophagectomy. His follow-up was discontinued 12 months after the discharge because of the acute myeloid leukemia which was cared by the best supportive care. By the time, he had been free from any signs of local recurrence or neurological impairments and able to take meals enough to abandon the enteral nutrition.\nSurgical resection is regarded as a standard treatment for early NSCLC while radiotherapy has been offered to patients who are not suitable for surgery due to medically inoperable factors such as poor pulmonary function or severe cardiovascular dysfunction []. SBRT is currently defined as a technique for delivering external beam radiotherapy with a high degree of accuracy to an extra-cranial target, using high doses per fraction, and now considered as the first-line treatment option for medically inoperable patients affected by early NSCLC []. For peripheral lung tumors, low treatment-related toxicity rates have been confirmed in prospective trials, as these tumors are mainly surrounded by lung tissue []. On the other hand, SBRT for central located tumors (< 2 cm from the main bronchus) has a potential risk of developing severe, potentially life-threatening toxicities because of the proximity of the target field to critical organs such as the main bronchus, the esophagus, and the heart []. When SBRT is employed to treat centrally located NSCLCs, the esophagus is typically one of the most crucial organs at risk owing to its close proximity to the radiation field. The adverse effects on the esophagus are well-known complications of SBRT for centrally located lung tumors. These esophageal complications range from esophagitis to esophagus ulcer resulting in stricture, perforation, and/or tracheo-esophageal fistula, and the frequency of grade 1–2 and over grade 3 toxicity according to the Common Terminology Criteria for Adverse Events has been reported as up to 12.8% and up to 6.8%, respectively []. Late esophagus toxicities as defined to occur more than 90 days are usually emerging 3 and 18 months after the termination of radiotherapy []. Sainathan et al. reported two cases of delayed esophageal perforation after SBRT for locally recurrent NSCLC []. In these two cases, esophageal perforation occurred 5 and 7 months after SBRT for centrally located recurrent tumors. As for the case in this report, the first presentation of the esophageal fistula was 4 years after the SBRT and target NSCLC was located in the left pulmonary apex (more than 2 cm distant from the main bronchus). Moreover, to our knowledge, this is the first case report of SBRT-induced esophageal perforation form periesophageal abscess, and this abscess invaded the vertebral body through the intervertebral disc and developed paraplegia.\nSeveral managements for esophageal perforation have been reported such as conservative treatment, esophagectomy, endoscopic clipping, and endoscopic placement of stent [, ] as two cases were treated by a covered esophageal stent []. In the current case, esophageal perforation occurred in the irradiated esophagus, which might be too friable and vulnerable to tolerate the placement of metal stent. There are several case reports that a covered self-expandable and retrievable stent (HANAROSTENT) was effective and successfully manage the esophago-gastric anastomosis fistula [, ]. Although HANAROSTENT could have been a possible choice in this case, we considered that the separation of the gastrointestinal contents from the severely infected mediastinum would be the most reliable measure to manage this critical vertebral infection. Nonetheless, the patient’s severe pulmonary dysfunction (vital capacity of 2.31 l and FEV 1.0 of 0.52 l) made the transthoracic esophagectomy an unsuitable choice. Therefore, we consider the nontransthoracic esophagectomy and delayed reconstruction as a necessary and adequate procedure for this complicated esophageal perforation. The upper mediastinal anatomical structures adjacent to the esophagus may be susceptible to surgical injuries owing to the previous radiotherapy, periesophageal abscess formation, and adhesive changes. Therefore, conventional transhiatal esophagectomy would not be a suitable choice because it includes blind and blunt dissections. The use of mediastinoscope was advantageous to confirm the surgical view directly and prevented secondary injuries on the anatomical structures adjacent to the esophagus.
A female patient, 39 years old, is complaining of diffuse abdominal pain, more prominent in the flank and left hypochondrium, initially bearable and with response to simple analgesics, but with progressive and significant worsening in the last 24 h. The patient reported bilious vomiting and denied fever or other similar episodes in the past. She was admitted in good general condition, moderately dehydrated and discolored. On abdominal palpation, there was evidence of diffuse pain without peritonitis. The patient was given IV hydration with crystalloids and underwent an abdominal/pelvic CT scan, which identified a voluminous expansive formation in the pancreatic tail, with compression, but without direct invasion of the splenic vein (Figure ). Laboratory tests showed CA 19–9 serum concentration greater than 1,000,000 U/mL, with no other changes.\nUpper gastrointestinal (UGI) endoscopy did not show any extrinsic compression or gastric/duodenal wall invasion.\nAn MRI of the upper abdomen was performed in order to better characterize the lesion, with evidence from projection imaging of a mass in the pancreatic tail, predominantly with cystic aspect, multiloculated, with thick septations and regular margins, showing heterogeneous contrast enhancement and areas of T1 signal hyperintensity, possibly corresponding to hematic content. Its size was 63 × 60 × 61 mm (Figure ).\nNo endoscopic ultrasound was indicated, since the main diagnostic hypothesis was a mucinous lesion with malignant transformation, and its treatment included surgery, provided that no metastatic disease was found.\nClinical stabilization and preoperative evaluation was performed, with no additional significant findings. The patient was the taken to the operating room. At first, she underwent a diagnostic laparoscopy, with no signs of peritoneal and liver metastasis. Laparotomy was then performed, and a distal pancreatectomy with splenectomy was conducted. The patient had an uneventful postoperative outcome and was discharged on the fifth postoperative day.\nThe final pathology report provided the diagnosis of a mucinous cystic neoplasm with moderate dysplasia and no signs of invasion.\nIts macroscopic exam described a 6-cm well-delineated cystic tumor surrounded by a thick, fibrotic capsule. In its composition, multiple cysts with trabecular and thickened septa were observed. The cysts contents were mucoid and showed no areas of solid tumor. Degenerative changes, including hemorrhage and macrocystic degeneration were seen in focal areas.\nMicroscopically, the epithelial lining was consisted of tall, columnar cells with frequent apical mucin. The tumor was mostly largely bland in appearance, containing uniform, basally oriented nuclei. Focally, it exhibited architectural complexity with pseudostratified hyperchromatic nuclei, but no invasive carcinoma was found. The subepithelial stroma was hypercellular containing spindle cells resembling the stroma of the ovary (ovarian-like stroma) (Figures and ).\nOn the 40th postoperative day, the patient had an outpatient visit, reporting no symptoms and without any change in blood glucose levels. The CA 19–9 serum concentration at that time was 688 U/mL. Additionally, the patient brought a complete abdominal ultrasonography showing only postoperative changes.\nAfter 5 months, the patient remained without complaints and her CA 19–9 serum concentration was still above normal (56 U/mL).\nIn a late postoperative visit, 1 year after surgery, her CA 19–9 serum concentration had returned to normal levels (35.2 U/mL). No abnormal events have been recorded since, with 3 years of follow-up.
We report the case of a 61-year-old woman who was suffering from lower abdominal bulge formation, chronic constipation, as well as a feeling of permanent abdominal constriction and pain. These symptoms appeared eight months after bilateral breast reconstruction, which was performed following subcutaneous mastectomy that was necessary owing to ductal carcinoma in situ. The breast reconstruction was conducted using a non-muscle-sparing pedicled TRAM-flap transposition. The defect created at the donor site within the abdominal wall after harvesting the rectus muscle was closed using a continuous suture with resorbable suture material. An additional augmentation was performed by the implantation of a resorbable polyglactin mesh placed on the fascial suture.\nThe patient presented at the authors' outpatient clinic eight months after reconstruction. At that time her body mass index was 18.9 and she was suffering from a lower abdominal bulge formation (Figure ). An ultrasound examination revealed an abdominal wall defect measuring 18 × 20 cm, with no detectable rectus abdominis muscle remaining, resembling a large rectus diastasis. A preoperative endoscopy of the colon showed signs of adhesions in the colon sigmoideum and transversum, but no other pathologies; the laboratory values were normal. Apart from an appendectomy performed 20 years ago, the patient had undergone no other previous abdominal surgery. In addition to the annoying large bulge in this otherwise slim patient, the pain experienced during everyday movement and impairment of bowel function led to an explorative laparotomy and an attempt to reconstruct the abdominal wall.\nFollowing adequate preparations with intestinal irrigation, a re-incision through the midline scar was performed. On entering the peritoneal cavity, several dense adhesions of small intestine to the abdominal wall and interenteric to the colon were found. These were carefully dissolved without causing injury to the intestine. Further exploration revealed a near-total absence of both abdominal rectus muscles; residual muscle fibres could be detected only at the lateral side of the rectus sheath. The initially implanted absorbable mesh was not identified, and the ultrasonographic finding of a diastasis-like defect with lateralization of both lineae semilunares was verified. Following a wide-ranging mobilization of the epifascial subcutaneous tissue, the remaining parts of the anterior rectus sheaths and minimal lateral parts of the rectus muscles were exposed. The herniation sac was partly resected, leaving sufficient material to facilitate a peritoneal closure of the abdominal cavity. In order to reach an adaptation of both lateralized anterior rectus sheaths, a component separation of the abdominal wall (Ramirez procedure) was performed. In the absence of an intact rectus abdominis muscle and anterior rectus sheath, only a vertical incision lateral to the linea semilunaris and separation in the plane between oblique external and internal muscle was used. A two-layer closure of the fascia in the midline was performed using a non-resorbable single-stitch suture of the posterior wall, and a continuous suture with a slowly resorbable suture material for the remaining anterior rectus sheath. The lateral defects between the external oblique muscle and linea semilunaris were covered with a halfmoon-shaped lightweight polypropylene mesh (Ultrapro®; Ethicon, Norderstedt, Germany) on each side (Figure ). Punctual mesh fixation was achieved using resorbable 3/0 single-stitch sutures (Dexon®; Braun, Germany). A subcutaneous suction drain was placed on top of each mesh, after which wound closure was achieved with a continuous intracutaneous suture using non-resorbable material.\nThe patient's recovery was uneventful; during her hospital stay she wore an elastic abdominal belt and was provided with analgesics and physical therapy with intense respiratory training. The suction drains and suture material were removed on schedule, the postoperative ultrasonography was without pathological findings and minimal postoperative seroma resolved. The patient was discharged from hospital and made subsequent visits to the outpatient clinic. At 12 months after surgery she remained satisfied with the outcome.
A 58-year-old Hispanic Caucasian man with diabetes mellitus presented to the Emergency Center with a 1-year history of progressive bilateral upper extremity weakness and episodes of orthostatic lightheadedness. He initially noticed weakness in his right-hand grip that gradually progressed over the next 6 to 8 months to involve the left hand and eventually both arms, to the extent that he was unable to hold objects or elevate his arms. He also complained of a tingling and burning sensation in both hands. His family had noticed mild bilateral facial weakness, described as reduced facial expression, without dysphagia or dysarthria. He did not complain of any lower extremity weakness or sensory symptoms. There was no bowel or bladder dysfunction, and he denied any erectile dysfunction. Prior to evaluation, he had been experiencing orthostatic intolerance that worsened to the point that he became non-ambulatory. His family had also noticed cognitive decline over the last year, with frequent forgetfulness and slow thought processing. On systems review, he reported mild xerostomia and xerophthalmia without dysphagia.\nA general physical examination, including cardiovascular, respiratory and abdominal systems, was normal. On initial neurological examination, he was awake, alert and oriented to person, place, time and situation. He had a Montreal Cognitive Assessment (MoCA) score of 16 out of 30, with deficits primarily in the visuospatial, executive and delayed recall domains. On cranial nerve examination, he had preserved pupillary responses, visual fields were full on confrontational testing, and he had normal fundoscopy bilaterally. His extraocular movements were preserved. He had bilateral facial weakness (facial diplegia) and decreased subjective sensation to light touch and pinprick in the left trigeminal nerve distribution. He did not have any hearing impairment and his uvula and palate elevated symmetrically. He did not have any weakness in his sternocleidomastoid, trapezius or tongue muscles. On motor testing, there was decreased tone in his upper extremities, with bilateral shoulder girdle and intrinsic hand muscle atrophy. On confrontational strength testing (based on the six-point Medical Research Council scale), he had normal neck flexion and extension strength. He had near symmetric proximal and distal weakness in the upper extremities, with strength of two to three out of five in all muscle groups tested, slightly worse on his right (Table ). His strength was normal in his lower extremities.\nOn multimodal sensory examination, he had subjectively decreased sensation to light touch and pinprick in his left radial nerve, left median nerve and right axillary nerve distributions. A sensory examination of his lower extremities was normal. His triceps and patellar reflexes were diminished bilaterally, with preservation of his other myotactic stretch reflexes. His plantar responses were flexor bilaterally, and he did not demonstrate any frontal cortical release signs. Automated blood pressure and heart rate measurements performed at the bedside with postural change demonstrated severe orthostatic hypotension with sympathetic α- and β-adrenergic compromise as follows: supine blood pressure, 142/90mmHg (mean arterial pressure, MAP, 107mmHg) with heart rate 68 beats/minute; sitting blood pressure, 97/64mmHg (MAP 75mmHg) and heart rate 77 beats/minute; standing blood pressure, 65/40mmHg (MAP 48mmHg) and heart rate: 81 beats/minute.\nHis elevated serum hemoglobin A1C of 7.9% (normal 4.3 to 6.1%) was consistent with suboptimal diabetes control. He had a normal thyroid function screen and serum vitamin B12 levels. The results of tests for serum rapid plasma reagin, human immunodeficiency virus antibodies and a hepatitis panel were all negative. A screen for systemic vasculitides revealed an elevated anti-SSA antibody titer of 28.4EU/mL (reference range: neg <16EU/mL, equivocal 16 to 20EU/mL, positive >20EU/mL), with a normal anti-SSB titer of 0.3EU/mL (reference range: neg <16EU/mL, equivocal 16 to 20EU/mL, positive >20EU/mL). The results of the following serum or blood tests were negative, non-reactive or normal: anti-nuclear antibodies, anti-neutrophil cytoplasmic antibodies, complement 3 and 4 levels and rheumatoid factor titer.\nDue to his demonstrable cranial nerve deficits associated with his severe brachial diplegia and orthostatic hypotension, an infectious, infiltrative or inflammatory disorder affecting his cranial nerves and cervical nerve roots was considered. Cerebrospinal fluid analysis revealed a normal white cell count of 1/μL (normal 0 to 5), with an elevated protein level of 81mg/dL (normal 15 to 45mg/dL), and glucose of 90mg/dL (normal 50 to 80mg/dL) with serum glucose of 160mg/dL. A mildly elevated immunoglobulin (Ig) G synthesis rate of 3.8mg/day was detected (normal -9.9 to +3.3 mg/day), suggesting increased intrathecal antibody production. Magnetic resonance imaging (MRI) of his brain with and without gadolinium contrast was normal. MRI of his spine revealed mild spinal canal stenosis at C5–C6 due to a small central disc protrusion without cord compression. No changes suggestive of spinal cord or nerve root inflammation were observed.\nNerve conduction studies (NCS; Table ) suggested a primary axonal neuropathy. Mild conduction velocity slowing or prolonged distal latency, with reduced compound motor action potential amplitudes are consistent with this inference. There was no evidence of conduction block in any of the nerves studied. The normal tibial motor and sural sensory NCS provided evidence supporting the non-length-dependent nature of the patient’s axonal neuropathy. Monopolar needle electromyography revealed moderately severe chronic reinnervation changes in his radial, distal median, distal ulnar and axillary-innervated muscles bilaterally, with ongoing denervation changes in muscles innervated by his left distal median, right radial and bilateral axillary nerves only. Monopolar needle electromyography of cranial nerve VII innervated muscles revealed moderate chronic reinnervation changes bilaterally.\nThe electrodiagnostic data was consistent with chronic, moderately severe, axonal mononeuropathies affecting the patient’s radial, median, ulnar, axillary and facial nerves; slightly worse on the left, as seen in mononeuropathy multiplex. There was also evidence of moderately severe chronic reinnervation changes affecting the L2–L4 myotomes on the left, suggestive of subclinical lumbar radiculopathies (explaining his diminished knee reflexes on examination). Secondary chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is unlikely because the clinical presentation, physical signs with preserved reflexes, were not consistent with CIDP, despite the elevated protein on cerebrospinal fluid (CSF). Moreover, the electrodiagnostic data did not meet the European Federation of Neurological Societies/Peripheral Nerve Society criteria for CIDP.\nHe underwent a left superficial radial nerve biopsy that demonstrated a chronic vasculitic neuropathy with ongoing Wallerian degeneration, and severe end-stage axonal loss, as shown in Figure . This was consistent with a diagnosis of vasculitic mononeuropathy multiplex. A salivary gland biopsy (to evaluate for xerostomia) was normal. High-dose intravenous methylprednisolone was administered for 5 days followed by oral prednisone (1mg/kg/day) with strict glycemic control. A liberal salt diet, >2L fluid intake per day, JOBST® waist high compression stockings (to provide 30 to 40mmHg pressure), and fludrocortisone were used to treat the severe orthostatic hypotension. The patient was discharged to a rehabilitation facility for upper extremity physical and occupational therapy.\nAt 3-month follow up, the patient reported mild improvement in his upper extremity function, evidenced by interval objective improvement on confrontational strength testing (Table ) and improved facial expression. There was less orthostasis, with infrequent spells of postural lightheadedness despite non-compliance with compression stockings. The repeat MoCA score was unchanged, with stable deficits in visuospatial, executive function and delayed recall, although the patient and his family had noted a subjective improvement in his cognition. He was subsequently started on azathioprine, which was titrated upwards to a total daily dose of 2mg/kg/day alongside a gradual prednisone wean.\nAt 1-year follow up, he demonstrated further improvement in muscle strength (Table ) with stable cognitive deficits. He had further improvement in orthostatic hypotension, and was continued on fludrocortisone. His glycemic control had worsened with a hemoglobin A1C of 10%, and continued with a dose tapering prednisone regimen in addition to azathioprine. His hemoglobin A1C 1.5 years after hospital discharge was 9.2% on low-dose prednisone and therapeutic azathioprine. He continues to receive specialist endocrinological care for diabetes. His neurological examination at his most recent evaluation was stable, with no appreciable change on confrontational muscle strength testing.
A 38-year-old woman was admitted to the emergency room for a clinical picture characterized by the episodes (duration 5–10 min) of atypical chest pain irradiating to the upper left limb. The patient reported previous cocaine and heroin abuse and current smoking of about 20 cigarettes per day. Body mass index of 31 was calculated. The electrocardiogram (ECG) showed normal ECG pattern, and the high-sensitivity troponin I resulted normal on several determinations.\nSince 2006, the patient underwent serial echocardiographic examinations that revealed and confirmed alleged bicuspid aortic valve (BAV) with no aortic dilation and mild aortic regurgitation.\nIn her past clinical history, the patient reported noncomplicated peptic ulcer and chronic gastritis, lymphatic adenopathy of undetermined etiology, and recurrent episodes of anorexia/bulimia and panic attacks, treated with antidepressants – selective serotonin reuptake inhibitor, valproate, and diazepam. She reported two pregnancies: one child was diagnosed with right-sided aortic arch congenital anomaly and cleft palate and the other one was in good health status. Patient's father died from myocardial infarction at the age of 55, and her mother was affected by systemic hypertension.\nAt admission to our unit, the clinical examination revealed regular heartbeat and 2/6 levine diastolic murmur; blood pressure was 140/80 mmHg and SpO2 was 98% breathing room air. The ECG showed sinus rhythm, and no abnormal findings were detected: the ECG pattern was overall normal and ventricular repolarization was actually within the normal limits; no changes on ECG were detected when compared to previous ones performed in the emergency room.\nA transthoracic echocardiography (TTE) was performed: biventricular systolic function was considered normal, ejection fraction was estimated 60%, no wall motion abnormalities were found, and left ventricular dimensions were within the normal limits; according to age and body surface area (LVIDd: 53 mm and LVEDV: 138 ml), the aortic root diameter was within the normal limits (24 mm) and no dilation of ascending aorta or aortic arch was detected; the TTE seemed to reveal an unusual “X-shaped” aortic configuration in a parasternal short-axis (PSAX) view []. Symmetrical closure of aortic valve cusps was detected in the parasternal long-axis (PLAX) view []. The ejection fraction was as high as 50%, mild-to-moderate aortic regurgitation was found in PLAX with a vena contracta of 3–4 mm diameter, and an aortic insufficiency pressure half time of 513 ms at continuous Doppler evaluation. The transesophageal echocardiography (TEE) defined the diagnosis showing the picture of an “X-shaped,” QAV (Hurwitz–Robert's “Type A” QAV) with well-balanced, comparable aortic cusp sizes [], mild-to-moderate aortic regurgitation was confirmed [], and no doming of the cusps was documented in TEE long-axis view [].[]\nThe patient underwent submaximal, fatigue limited, ergometer stress test that revealed no angina-like symptoms neither ECG alterations. High-sensitivity troponin I remained within the normal range limits on several determinations during the hospital stay.\nAs isolated systolic hypertension was diagnosed during hospitalization, a mild dosage of angiotensin-converting enzyme inhibitor was prescribed.\nConsidering the current clinical condition not suitable for any surgical or invasive treatment, the patient was selected for medical treatment only and regular clinical and echocardiographic follow-up.\nAfter 3 days, the patient was discharged home with a schedule of clinical follow-up. Indications to quit smoking and reduce body weight were given. After 21 days, during the first scheduled consultation, the patient reported the absence of further episodes of chest pain. She reported good compliance with the pharmacological treatment, maintaining acceptable blood pressure values at self-check measurement at home.
In May 2016, a 67-year-old woman came primarily to our hospital for a consultation about painless mass of the left lower gingiva. Intra-oral examination showed a 46 × 25-mm tumor with induration on the left lower gingiva (Fig. ). A submucosal mass, independent of the gingival tumor, was palpable in the left buccal region. Several cervical lymph nodes on the left side were also palpable. Pathological examination of a biopsy sample taken from the gingival tumor revealed a well-differentiated squamous cell carcinoma.\nA computed tomography (CT) scan with contrast showed a large gingival tumor, with destruction of the adjacent mandibular bone, and four metastatic left-cervical lymph nodes that were markedly enlarged, non-homogeneously enhanced, and partially necrotic. These lymph nodes included two left submandibular and two left upper jugular nodes. CT imaging showed no metastases to the lungs. Magnetic resonance imaging (MRI) showed a large primary tumor on the left side, with its epicenter located in the lower gingiva. The tumor appeared to extend into the sublingual space medially and into the buccinator muscle laterally. A non-homogeneously enhanced mass was identified in the buccinator space along the facial vessels, anterior to the anterior edge of the masseter muscle, and lateral to the buccinator muscle (Fig. ). This mass lay on the cranial side of the primary tumor. The mandibular ramus and pterygoid region that are on the cranial side of BN were not invaded by primary tumor (Fig. ). Moreover, T1-weighted MRI showed a thin layer with high signal, indicative of fatty tissue, between this mass and the primary tumor, indicating that the mass was independent of the primary tumor. Based on its anatomic location, the mass appeared to be metastatic disease to BN. Greyscale sonogram showed some metastatic cervical lymph nodes on the left, and metastatic BN. These cervical lymph nodes were markedly enlarged, round in shape, heterogenous hypoechoic, and without an echogenic hilus. Metastatic BN was round in shape, hypoechoic, with well-defined borders, and without an echogenic hilus.\nThe tumor was diagnosed as a cT4aN2bM0 squamous cell carcinoma of the lower gingiva. The patient received neoadjuvant chemotherapy, consisting of docetaxel 60–70 mg/m2 and cisplatin 70 mg/m2 on day 1, and 5-fluorouracil 700 mg/m2/day 96 h continuous infusion. Gross examination after two cycles of chemotherapy showed marked shrinkage of the primary tumor. A slight reduction in BN size was observed. According to the Response Evaluation Criteria in Solid Tumors (RECIST) guidelines, version 1.1 [], this patient showed a partial response to treatment.\nThree weeks after the end of neoadjuvant chemotherapy, the patient underwent surgery, consisting of suprahyoid neck dissection (levels I–II) on the right side, classical radical neck dissection (levels I–V) on the left side, segmental mandibulectomy, and oromandibular reconstruction with a scapular osteocutaneous flap. The primary tumor and buccinator space including BN were dissected in continuity with neck dissection. Histopathological examination of the segmental mandibulectomy specimens showed that the alveolar bone and part of the bone trabeculae of the mandible had been resorbed and replaced by fibrous connective tissue. This tissue contained a few nests of squamous cell carcinoma, composed mainly of necrotic tissue with a small number of viable cancer cells and remnants of keratin pearls. The surgical margins were free from tumor. Metastatic disease was detected in five cervical lymph nodes, including one left submandibular aggregated-node, three left upper jugular nodes, and one left middle jugular node. No metastatic nodes revealed extra-nodal extension. Metastasis to BN was also present (Fig. ). These metastatic regions contained few viable cancer cells and consisted primarily of necrotic tissue.\nFollowing surgery, the patient was treated with adjuvant radiotherapy (50 Gy/25 fractions) with concurrent oral chemotherapy (S-1, 100 mg/day for 5 days per week for 5 weeks) []. Two years later, there has been no evidence of tumor recurrence or metastasis.
The patient was a 34-year-old woman, G4 L2 Ab1 who had married her cousin 7 years ago. She had a history of two normal vaginal deliveries and one abortion in the 1st trimester. The first pregnancy in the age of 28 had terminated with a normal vaginal delivery (NVD) resulting in a term baby girl who weighed 3150 gr. The second pregnancy had occurred two years later; curettage was done at week 6 due to spontaneous abortion. Her 3rd pregnancy was in the age 32 resulting in a healthy term baby girl weighing 3400gr with NVD. Due to her unwillingness for becoming pregnant she had withdrawal contraception, whereas because of the non-occurrence of menstruation during breastfeeding and 6 months after her last pregnancy, a pregnancy test was requested. Due to the positive pregnancy result, ultrasound study was done which revealed a 10-week spontaneous gestation with 4 gestational sacs and 4 fetuses. There was no case of multiple pregnancies in her or her husband's family.\nShe received prenatal care during her pregnancy but there was no need for prophylactic cerclage. At week 24 of gestation she was hospitalized due to premature contractions. The contractions were controlled with the prescription of pethidine and hydration and she was discharged 3 days later. She was once again admitted at 28 weeks of gestation due to similar contractions; this time she was treated with indomethacin and pethidine and discharged 3 days after the contractions suppression. She also received two doses of betamethasone during hospitalization.\nShe was admitted a week later due to labour contractions. In vaginal examination 2 finger dilatation with no effacement was detected. Serum test results were reported all in the normal range and the vital signs during hospitalization were normal. At this stage she was treated with tocolytics (adalat). The fetuses' health was monitored by Doppler ultrasound imaging, biophysical profile and fetal non stress test (NST). After the labour contractions' suppression and due to the presence of sporadic contractions she was monitored while being hospitalized up to the time of delivery.\nAt 32 weeks and 4 days of gestation, due to the resumption of labour contractions and dilatation progression, after receiving the rescue dose of betamethasone, cesarean section and tubectomy (upon the request of the patient and her husband) was performed. The outcome of cesarean section was 4 fetuses, 3 girls and a boy, quadriamniotic and quadrichorionic. Quadruplet A weighed 1820 gram with an Apgar score of 9 to 10; quadruplet B weighed 1810 gram with an Apgar score of 6-7. Quadruplets C and D weighed 2100 and 1980 gram with an Apgar score of 7-8 and 9-10, respectively. Among the 4 neonates, only quadruplet B was transferred to the NICU; she was discharged after 2 days in good health. and show the quadruplets after birth.\nBecause of atonic uterus during the cesarean section, after the administration of the appropriate dosage of oxytocin and methylergonovine and 800µgr of rectal misoprostol, the uterine arteries were blocked and the B-Lynch suture was done. No blood transfusion was required for the mother and her hemoglobin (Hb) level 6 hours after the operation was 9 g/dl; her pre-operational Hb level was 10g/dl. The mother was discharged 3 days after delivery with no complications.\nFor close follow up, the mother and her newborns were visited two weeks after delivery; they were all healthy and had no problem. The infants were visited once again 6 months later revealing normal physical and mental development in all four. shows the babies at 6 months of age.\nThis project has been approved by Ethical Committee and Vice Chancellor for Research of Mashhad University of Medical Sciences (97/429008).
A 35-year-old Caucasian female patient presented to her local emergency department in November 2016 with a chief complaint of neck pain. The patient had a past medical history significant for Hodgkin lymphoma diagnosed in 1998 following excision of a neck mass at age 16. She underwent chemotherapy and mantle field radiation in 1998. The radiation targeted lymph nodes in the neck, axilla, and behind the sternum in order to encompass the nodal basin of her cancer and the common lymph node drainage areas. The patient denied any history of radiation to her face. She reported remission at the time of presentation for this complaint of neck pain and was not following with anyone for her history of HL. She had no notable past surgical history. Menarche was at age 13 and she gave birth to one child at age 18. The patient’s family history was unremarkable with the exception of ovarian cancer in her maternal great aunt. There was no family history of breast or thyroid cancer. The patient was a previous smoker, quitting after about 10 years of use. No drug or alcohol use was recorded.\nIn the emergency department, a neck CT revealed a subcutaneous mass over the mid-clavicle, a breast mass, and multiple nodules in the thyroid gland with the largest nodule measuring 1.5 × 1.6 × 2.0 cm. The breast mass had dimensions of 2.6 × 4.0 × 4.9 cm by ultrasound. The patient was instructed to follow-up in breast and thyroid clinics for these findings.\nThe patient followed the emergency department’s recommendations and was examined by a surgical oncologist. In the breast clinic, she stated that the large right upper-outer quadrant breast mass had been present for 1 year. She was unsure how long the mass overlying the clavicle had been present, as it had been asymptomatic. On physical examination, the patient appeared well developed and well nourished. Respiratory, abdominal, musculoskeletal, and cardiovascular systems were normal. An 8.0 cm mass was located in the upper-outer quadrant of the right breast centered at the 10:00 axis about two fingerbreadths on the nipple border. Nipples were normal bilaterally. There was no cervical, supraclavicular, or axillary lymphadenopathy. Directly overlying the clavicle about two fingerbreadths medial to the mid-clavicular line was a 0.6 cm mobile mass within the skin. It was not associated with any regional lymphadenopathy. Laboratory workup was negative and unremarkable.\nThe patient underwent a bilateral mammogram in December 2016, followed by ultrasound-guided core biopsy of the breast mass. Initial core biopsy performed at an outside institution of the right breast mass came back as fibrocystic change. The outside biopsy was not reviewed at our institution. Based on a high level of clinical suspicion, additional imaging and a repeat biopsy were performed at our institution in January 2017. The repeat biopsy of the right upper-outer quadrant breast mass showed a phyllodes tumor. Pathology results described a fibroepithelial lesion with hypercellular stroma, mild-moderate stromal cytologic atypia, increased stromal mitotic activity (4-5/10 HPF), and focal areas suggestive of phyllodes architecture. The nature of the margins (pushing or infiltrative) could not be determined from the biopsy material. MRI showed the phyllodes tumor in the right breast measuring 4.7 cm. An excisional biopsy of the clavicular mass was done in a separate operation. The biopsy result was a cutaneous adnexal adenocarcinoma with eccrine differentiation. Surgical excision was recommended for both the breast and clavicular masses (Figures and ).\nThe patient also followed up in thyroid clinic for the multinodular goiter seen on her CT scan of the neck in the emergency department. Review of systems in the thyroid clinic was negative for change in voice or positional dyspnea but was significant for difficulty swallowing that started roughly 3 months prior. The patient also had pain in the right lower neck. She described the pain as constant, with an intensity of 5/10, and alleviated by acetaminophen. Ultrasound revealed three complex nodules with the largest in the left lobe measuring 1.3 × 1.8 × 2.5 cm, and other smaller nodules. The patient was diagnosed with multinodular goiter at this time. Two nodules met criteria for FNA. Cytology for both nodules was benign. The patient elected to defer any intervention and did not continue to follow-up.\nIn early March 2017, the patient underwent wide local excision of the phyllodes tumor, wide local excision of the cutaneous adnexal adenocarcinoma and right axillary sentinel lymph node biopsy, and concurrent post-reduction bilateral oncoplastic reconstruction. Surgery entailed intra-dermal injections of Tc99m-filtered sulfur colloid 1-2 cm from the margins of the lesion located over the right clavicle. Lymphoscintigraphy revealed uptake in two right axillary nodes. Once in the operating room, a standard axillary incision was made and 2 “hot” and blue lymph nodes were identified and removed. The cutaneous adnexal adenocarcinoma was then resected with a 1.5 cm margin which created a 4 × 10 cm ellipse. A lumpectomy was performed through predesigned incisions to ensure a cosmetically favorable closure for the phyllodes tumor in the right upper-outer breast. After removal, the plastic surgery team completed a bilateral breast tissue rearrangement and left breast reduction for symmetry. All aspects of the operation went smoothly, and the patient recovered uneventfully.\nPathology confirmed a phyllodes tumor measuring 4.1 cm in greatest diameter and clear margins. The phyllodes tumor pathology showed a circumscribed border, mild to moderate stromal cellularity, mild stromal cytologic atypia, and a mitotic rate of 4-5/10 HPF. Necrosis and malignant heterologous elements or stromal overgrowth were not identified. Overall, features were consistent with a benign phyllodes tumor (Figure ).\nThe adnexal neoplasm in the right chest was resected with negative surgical margins, and 0 of 2 nodes were positive for metastatic disease. The pathology report noted the presence of mitotic figures and rare atypical mitotic figures, favoring the diagnosis of a malignant adnexal neoplasm. The report adds that since the breast is a modified sweat gland, it is impossible to distinguish a primary cutaneous adnexal neoplasm from a primary breast neoplasm based on histologic features and that no immunoperoxidase stains can distinguish these two entities.\nOn her first postoperative clinic visit, the patient was recovering well. Her incisions were clean, dry and intact without erythema, drainage, hematoma or seroma. The patient has since continued to follow-up and has not experienced any complication or recurrence. She is recommended to follow-up annually.
A 66-year-old man with familial dilated cardiomyopathy and a CRT-D device (Resonate X4; Boston Scientific, Marlborough, MA) visited our outpatient clinic owing to transient faintness and palpitations. He had been diagnosed with juvenile sick sinus syndrome and was implanted with a permanent pacemaker at the age of 25. Furthermore, his son had been diagnosed with juvenile dilated cardiomyopathy and died at the age of 15. The pulse rate was 90 beats per minute and systolic blood pressure 102 mm Hg. The 12-lead electrocardiogram (ECG) revealed a regular wide QRS rhythm with a QRS duration of 200 ms and right bundle branch block configuration with a marked left axis deviation in the absence of obvious P waves (A). The device interrogation demonstrated ventricular sensing without CRT pacing at a V-V interval of 700 ms, which was faster than the right atrial (RA) regular rhythm (B). The ventricular rhythm was not diagnosed as a tachycardia by the CRT-D detection algorithm because the detection zone for ventricular tachyarrhythmias for defibrillation or antitachycardia pacing had been programmed to over 150 beats per minute. From those observations, our initial speculation was that it was an accelerated idioventricular rhythm (AIVR) with VA dissociation. Then, we decided to attempt a catheter ablation procedure because the AIVR inhibited effective CRT pacing.\nAt the beginning of the procedure, a 10-polar catheter and a 20-polar catheter were placed into the coronary vein (CV) and on the RA free wall, respectively. A 4-polar catheter was also placed in the right ventricular apex. The intracardiac electrograms revealed different A-A intervals between the right atrium (970 ms) and CV (350 ms) with a V-V interval of 700 ms (A). Overdrive pacing at 320 ms from the distal CV induced a transient AV prolongation with biventricular pacing and then shortened the V-V interval to 640 ms. The RA rhythm was not affected by the CV pacing (B). Our final rhythm diagnoses were a left atrial tachycardia (AT) with simultaneous sinus rhythm observed in the RA. Interatrial dissociation (LA-to-RA conduction block) with 2:1 LA-to-V conduction, right bundle branch block, and marked left axis deviation of the conducted QRS complex were observed. Three-dimensional electroanatomical mapping of the LA during the AT was performed using a Rhythmia® system (Boston Scientific, Marlborough, MN). Activation mapping revealed a reentrant tachycardia pattern with a head-meets-tail-style activation at the center of the LA roof (A) and voltage mapping revealed low-voltage areas around the anterior wall and roof of the LA (B). A radiofrequency ablation catheter was inserted into the LA by the trans–atrial septal approach, and the left AT was successfully eliminated by a single radiofrequency application at a left high posterior LA site where diastolic fragmented potentials were recorded. The CRT pacing was restored immediately after the termination of the left AT. Then, we examined the interatrial conduction by a programmed stimulation method from the LA appendage and tricuspid annulus. The LA-to-RA conduction blocked at a pacing cycle length of 740 ms (C) and 1:1 RA-to-LA conduction was observed up to a pacing cycle length longer than 440 ms; however, Wenckebach-type block occurred at 430 ms. The activation sequence of the coronary sinus was “distal to proximal,” which suggested that the RA-to-LA conduction was dominant through the Bachmann bundle region rather than the mid–atrial septum or coronary sinus region (D). A single extrastimulation with a basic pacing cycle of 700 ms from the high RA resulted in RA-to-LA conduction block at 350 ms, and stimulation from the LA appendage exhibited LA-to-RA block at 440 ms. These findings suggested rate-dependent, bidirectional interatrial conduction block with a greater impaired conduction in the LA-to-RA direction than RA-to-LA direction, resulting in interatrial dissociation only during the LA tachycardia. After the successful ablation of the left AT, regular CRT pacing resumed immediately and was maintained during 20 months of follow-up.
A 54-year-old man was referred to our institution, he complained pain on his left thigh for 2 years. The pain was felt in the midthigh region. There were no other symptoms from the anamnesis. Patient previously had pathological fracture 3 years ago on the left femoral shaft. It occurs after the patient was slipped on the bathroom and fell. The patient had undergone curettage, open reduction and internal fixation at district general hospital. Histopathological examination after first surgery suggested fibrous dysplasia. On physical examination, the lump was palpable on his postero-medial thigh. The lumps were firm and non-tender on palpation, fixated, and the size was around 14 × 8 × 11 cm ().\nThe patient underwent diagnostical procedures, including a blood test, plain radiograph, and Magnetic Resonance Imaging (MRI). Laboratory findings were within normal ranges. A shows the pre-fracture condition 3 years ago, while B shows the fracture line in the diaphyseal of the left femur. C shows femoral radiograph that revealed lytic geographic lesion at femoral diaphysis, cortical disruption, interrupted periosteal reaction, soft tissue mass, and internal fixation attached to the femoral bone. Femoral MRI indicated a tumor on femoral diaphysis that measured 20 × 10 × 14 cm and displayed low to intermediate signal intensity on T1-weighted images. T2-weighted images displayed a heterogenous lesion, containing areas of low to hyperintense area. Some area showed metal artifacts due to metallic implants (). The histopathological result from core biopsy suggested chondrosarcoma.\nThe patient underwent total femur resection with wide surgical margin. He was placed on supine position. The surgical incision started 4 cm proximal to the greater trochanter, it is brought curved distally to the medial thigh until anteromedial aspect of tibial tuberosity. Superficial femoral artery and vein were identified. Rectus femoris and some parts of vastus lateral muscle were preserved. The tumor was removed with wide surgical margin (). Reconstruction after total femur resection was done using total femur megaprothesis (D). The remaining hip capsule was sutured tightly with mersilene tape. Psoas muscle was tenodesed to the anterior hip capsule. External rotator muscles were sutured to the posterior hip capsule. Remaining abductor tendon is attached to the lateral aspect of the prothesis. Sartorius was sutured to the rectus femoris muscle.\nThe surgery took 7 h. The amount of bleeding during total femur resection was 1300 cc. There was no complication during or after surgery. We mobilized the patient with non-weight bearing and after one month of surgery we change it to partial weight bearing as tolerated. The length of stay in the hospital was 7 days.\nThe histopathology examination from the resected tumor showed cartilage matrix and hypercellular chondrocyte. The chondrocytes were varied in shape, atypical, larger in size, and hyperchromatic nuclei. There were large number of binucleation with mitosis, and same myxoid changes. The conclusion from the histopathology examination was chondrosarcoma grade II ().\nAt the 12 months follow up, the patient was in good condition. Patient had Trendelenburg gait and weak extensor knee muscles. Patient needed one crutch for walking. MSTS score evaluated functional outcomes, where the patient scored 16 or 53%. The patient did not complain of any pain. The patient also showed no sign of recurrence 12 months after the surgical procedure.\nAt follow up, the patient was in good condition and could work normally.
In November 2000, a 19-year-old Turkish female was referred by her dentist to the Department of Periodontology of the Faculty of Dentistry, Ataturk University, for evaluation and treatment of the gingival bleeding and overgrowth.\nAccording to the patient, she suffered from excessive gingival bleeding during meals that had started four months ago, accompanied by elevated gingival reddish. A short time later, she discovered a dark red swelling on her upper right gingival tissues. The swelling in the associated region had been increasing gradually since that time. She did not give any relevant past dental history. The patient's medical history was non-contributory and she did not take any medications. She and her parents stated that, in March 1990 and June 2000, she had a lesion operated and diagnosed as congenital hemangioma on the right of her face.\nDuring physical examination (Figure ), a right-sided hemihypertrophy of the face with congenital hemangioma was observed. Her mouth was deviated toward the left side of her face. No other similar lesions were clinically visible in the head and neck region. Moreover, no lymph nodes were palpable.\nClinical evaluation revealed a mass on the buccal surface of upper right molar region (Figure ). It was firm, pedunculated and red mass, and was located in the attached gingiva in the right maxillary region, covering almost the entire coronal part of the #3 and #4 teeth. On the palatal side the mass extended throughout the marginal and attached gingival of the second premolar and first molar. The mass was painful and bled easily upon palpation. Tooth #4 involved by the mass was mobile and a diastema had formed between #3 and #4 teeth. Periodontal pocket (approximately 10 mm) was detected in the associated region. Periodontal examination revealed a moderate and generalized gingivitis due to bacterial plaque. There was a mild accumulation of dental plaque and the gingival tissues were swollen. Other findings included a mild supragingival calculus around her teeth, absence of carious lesions and tooth malpositioning. It was provisionally diagnosed as a pyogenic granuloma.\nAn orthopantomograph radiograph demonstrated that there was localized crestal bone destruction in the area of the tumor, missing tooth germs in upper third molars (Figure ).\nA gingival biopsy was taken from the tumor zone, producing profuse hemorrhage controlled by pressure with gauze. The biopsy tissue was rinsed in formalin (10%), and sent for histopathologic examination. Histopathologic examination of the excised tissue revealed nonceratinize stratified squamous epithelium overlying on unencapsulated tumor composed of many thin-walled capillary channels. The capillaries were lined by a single layer of endothelial cells. Some areas showed marked endothelial cell proliferation. Sparse plasma cells and lymphocytes were seen scattered throughout stroma (Figure ).\nAfter having undergone clinical and physical examinations and laboratory evaluation in the pathology department, she was diagnosed as having capillary hemangioma.\nPeriodontal therapy consisted of oral hygiene instruction, full-mouth scaling and root planning, and modified Widman flap surgery.\nWritten informed consent was obtained from the patient after all treatment procedures had been fully explained.\nBefore surgical treatment of the tumor, a thorough scaling and root planning were done carefully to remove any local irritating factors that may have been responsible for the gingival inflammation. The patient was educated regarding good oral hygiene maintenance practices.\nPeriodontal surgery was done under strict aseptic conditions using local anesthesia. The modified Widman flap surgical procedure was performed as described by Ramfjord and Nissle []. Initial incision was performed in the regions of teeth #2 through #5. The tumor was carefully removed the completely with the remaining granulation tissue after elevating buccal and palatal flaps, and tooth #4 had a poor prognosis, and it was extracted to eliminate the focus of infection (Figure ). There was profuse intraoperative bleeding that was controlled with the help of pressure packs. The flaps were sutured with 3-0 non-resorbable silk sutures (Figure ). The excised tissue was kept in formalin (10%) and sent for histopathologic examination. The histology was similar to that seen in the first specimen.\nThe patient was prescribed analgesics (Naproxen£ 550 mg, every 12 hours, 5 days) and instructed to rinse twice daily with 0.12% chlorhexidine rinse for 2 weeks postoperatively and to avoid trauma or pressure at the surgical site. Toothbrushing activities in the operated sites were discontinued during this time. The sutures were removed 7 days after surgery, home care instructions were given. Professional prophylaxis was done weekly for the first month and then at 4-month interval.\nFour months following surgery, the affected area had completely healed, and there were no complications. Probing depth in the associated region was less than 2 mm. The patient's plaque control was good, although moderate tooth staining was apparent. The patient was periodically observed until two years after our treatment began. At that time there were no clinical or radiographic signs of recurrence (Figure and ). The patient was scheduled to receive a prosthetic replacement for tooth #4. &Ultracaine DS Forte®, Hoechst Roussel, Frankfurt, Germany. £Apranax®, Abdi Ibrahim Drug Ltd., Istanbul, Turkey. Kloroben®, Drogsan Drug Ltd., Istanbul, Turkey.
The patient was a 50-year old, right-handed woman who experienced a haemorrhagic stroke in 2010. The computed tomography scan performed immediately after the acute event revealed a right lenticular-capsular, lateral thalamic and intraparenchymal hematoma, with a midline shift toward the left side. Two days after the acute event a magnetic resonance imaging scan of the brain confirmed the presence of this lesion (Fig. ). After six weeks as inpatient for a rehabilitation program in our Institute, the patient entered a daily physiotherapy program for two months as outpatient, which led to a good recovery in motor control and strength.\nFive years after the acute event, she returned to the Outpatient Service complaining of a CPSP syndrome, a persisting difficulty in the functional use of the left side of her body, especially of the lower limb during walking and stair climbing and a reduced postural balance. She was autonomous in everyday life activities (Functional Independence Measure = 120) [], used a cane for walking outdoor, and needed augmented time for self-care.\nThe patient suffered from persistent allodynia and dysesthesia at her left upper extremity and at the left side of her face. The soft touch of an open hand was perceived as burning. Proprioception of the left upper and lower limbs was also impaired, as in the absence of vision she was unable to locate her left arm and leg. Three years before, she was prescribed Pregabalin to relieve pain (the patient does not remember the dosage), however she quit its use after few months because of its inefficacy. At the moment of the treatment she was not taking medications. At clinical examination, she presented low weakness at her left side (grade 4 out of 5 at Medical Research Council grading for strength of shoulder abductors, elbow flexors, wrist extensors, hip extensors, hip abductors, knee extensors, ankle dorsiflexors and plantarflexors) [] and slight spasticity (modified Ashworth Scale grade 1) during the elbow and wrist extension; the knee flexion and the foot dorsal flexion []. She was able to perform isolated movements of the foot correctly and to move each finger of the left hand singularly.\nThe postural balance improved after few sessions of specific training on the treadmill and on instable surfaces, the patient achieved the ability to maintain the standing position on the left leg for some seconds. Afterwards, during one session targeted at improving coordination of the lower extremity, the patient performed exercises with a visual feedback provided by a mirror. After these exercises, the patient presented a positive good sensation at the leg, not related to movement, reporting that the leg was “more sensitive”. In the light of this unexpected finding, she was proposed to start MT in order to reduce pain at the upper extremity. The patient completed two consecutive weeks of MT training for five days a week. In each session, she was asked to perform symmetrical bilateral movements with the upper extremities while watching the image of the sound limb reflected by a parasagittal mirror superimposed to the image of the affected arm. Each session lasted 45 min. The requested movements were: forearm prono-supination, wrist extension and opening and closing the hand (Fig. ). These movements were always proposed in a random order. Each movement was performed for 10 min at spontaneous speed (about one movement every second). Five minutes were spent for resting and for self-mobilization of the left arm and hand without the mirror. During the exercise, the patient was supervised by a physiotherapist. No further instructions, corrections or encouragements were given.\nPain severity was assessed by the visual analogue scale (VAS 0-10 cm): the patient was asked to draw a vertical line on a horizontal 10 cm line, where she felt the pain intensity would be better represented, in a range from the left end of the line indicating “0 = no pain” to the right one indicating “10 = worst pain imaginable”. Hand and finger strength was assessed by the dynamometers Jamar and Pinch Gauge, and finger dexterity by the 9-Hole Peg Test []. The patient was evaluated at baseline, about one month before starting MT in two different occasions one week apart (to assess reproducibility), immediately before treatment and after treatment. VAS score was also obtained at one-year follow-up. VAS was used to assess pain severity at the hand and at the shoulder [] in two separate conditions: at rest and during a maximal squeeze left hand contraction [].
An 11-year-1-month-old Japanese boy was referred to the Pediatric Dentistry Clinic of Osaka University Dental Hospital from the Pediatric Clinic of Osaka University Medical Hospital for consultation regarding oral management. Two mandibular primary incisors had spontaneously exfoliated at 1Y8M. Thereafter, the patient had been diagnosed with childhood-type HPP at the age of 2Y2M due to a low serum alkaline phosphatase (ALP) level (66 IU/I), as well as radiological examination findings of the lower extremities and hands, which revealed rickets, a metaphyseal irregularity. The obvious symptoms were localized in the dental region at diagnosis, though they later extended to other parts of the body such as bone pain. ERT was performed by subcutaneous injections of recombinant bone-targeted ALP at 2 mg/kg three times weekly and commenced at 11Y7M.\nWe previously reported dental findings of this patient at the age of 11Y5M, obtained before initiating ERT therapy []. Briefly, an intraoral examination demonstrated that all incisors and canines, as well as the first molar had emerged into the oral cavity, each of which showed enamel hypoplasia, while all first molars were located in a prominently lower position. Since the maxillary and mandibular molars did not contact when biting, traumatic occlusion was thought to have occurred in areas near the incisors. A periodontal examination revealed deep pockets and severe mobility in the maxillary right central incisor and mandibular left central incisor regions. In an orthopantomographic examination, all permanent teeth except for the mandibular left second premolar were identified, however, permanent tooth root formation was delayed, and the mandible and maxilla bones appeared to be thin. A periapical radiographic examination showed severe absorption of the alveolar bone in the regions of the maxillary right central incisor and mandibular left central incisor.\nThe patient had been suffering from low motor function due to leg bone pain. At 6 months after initiation of ERT, he noted that the bone pain had disappeared. Thus, ERT improved motor function and activities of daily living in our patient. Following initiation of ERT, 3 permanent incisors, including the maxillary right central incisor and mandibular bilateral central incisors, were exfoliated (Fig. ). Mobility of each of those teeth due to occlusal trauma were recognized prior to beginning therapy. In addition, the mandibular bilateral primary second molar was exfoliated, after which permanent lateral dentition excluding the maxillary and mandibular right second premolars erupted. The maxillary left second premolar did not erupt due to space loss. All permanent teeth were found to have enamel hypomineralization.\nA periapical radiographic examination performed at 14Y9M revealed mild horizontal alveolar bone resorption around all teeth (Fig. ), while widening of the periodontal ligament space in the anterior tooth region and disappearance of lamina dura in part of the first molar were detected. However, no widening of the periodontal ligament space was recognized around the apex of the premolar root. All tooth roots were short and thin, and pulp spaces were wide.\nClosing of the root apex in the incisors and first molars, and development of roots of canines and premolars were recognized as compared before initiation of ERT (Fig. a, b). We estimated dental age based on the development stage of permanent teeth using the method of Haavikko [], which has been shown to be valid for application in Japanese subjects []. Haavikko reported age medians in years for 12 tooth formation stages for boys and girls separately, as well as for the maxilla and mandible. In this study, a single pediatric dentist assessed formation stage of all permanent teeth using panoramic radiography images. The formation stages were then converted to chronological age and the average of those chronological ages was considered to be the dental age of the patient. For the present patient, results from a total of 8 panoramic radiography sessions, 2 prior to beginning treatment at the age of 11Y1M and 11Y7M, and 6 after starting treatment at 11Y10M, 12Y1M, 12Y10M, 13Y1M, 13Y9M, and 14Y1M of age, were analyzed (Additional file ). The canines, first and second premolars, and second molars showed prominent growth during the examination period, as those teeth were in the process of development (Fig. a). The dental age of the canines and premolars before beginning therapy was approximately 10 years, and that of the second molar was 7 years. However, at 2.5 years after initiation of ERT dental age was approximately 12 years old. Thus, the gap between chronological and dental age was reduced after beginning therapy (Fig. b).\nThe results in this case showed that during the 6-month period before treatment, the age gap had expanded, while it showed a constant decrease during the 2.5 years after ERT initiation and finally disappeared. On the other hand, the central and lateral incisors, and first molars did not show significant growth during that time. Several studies have evaluated bone mineral density using mandibular cortical width shown in panoramic radiographs in children with other types of skeletal diseases or for clinical osteoporosis screening [–]. However, there are limitations related to differences in experience and agreement among different observers, as well as image quality and orthopantomography magnification. For the present case, we utilized a modified quantitative evaluation method for determining bone mineral density using mandibular cortical width by correcting the length of the first molar, and calculated mandibular bone density as follows: mandibular cortical width / length from mesial buccal cusp to apex of first molar. Our findings showed that the index of mandibular bone density was increased after ERT initiation (Fig. ).\nPeriodontal examination findings revealed deep pockets and severe mobility in the incisor regions, while only mild gingival inflammation was noted. We determined pocket depth (6-point method) and mobility before (11Y7M) and after (11Y10M, 12Y1M, 12Y10M, 13Y1M, 13Y9M, 14Y1M) starting ERT. The average pocket depth, except for the incisors and first molars, remained at approximately 3 mm during that period (Fig. ). No mobility of the canines and premolars that erupted after initiation ERT was noted.
An 84-year-old female, nursing home resident, with a past medical history of type II diabetes mellitus, hypertension, cerebrovascular accident, anoxic brain injury with permanent percutaneous endoscopic gastrostomy (PEG) tube and tracheostomy to ventilator was noticed to have a high peak pressure on the ventilator on a routine check by the nursing home respiratory therapist. Suctioning was attempted but was unsuccessful. The tracheostomy tube was changed and during the process, increased resistance was felt. Soon thereafter it was noticed that blood was leaking from around the tracheostomy tube. Emergency medical services were called and the patient was brought to the emergency department. On arrival the patient was found to be hypertensive with a blood pressure of 160/74 mmHg, heart rate of 80 beats per minute, respiratory rate of 18 breaths per minute, O2 saturation was 100% on 100% FiO2 fraction of inspired oxygen (FiO2) on assist control-volume control + ventilator mode and a temperature of 37.8°C. On examination, the patient appeared to be generally edematous and was found to have crepitus on palpation starting at the forehead proceeding all the way down to the chest, abdomen, pelvis and upper thighs. In addition, her upper arms bilaterally also appeared swollen with crepitus present on palpation. Examination of the head and neck revealed a tracheostomy with tracheal tube in place with slightly pink secretions and what appeared to be dried blood on gauze surrounding the tube. On auscultation of the chest Hamman’s crunch, a crunching sound, synchronized with the heartbeat was present, as well as slightly decreased breath sounds at the right apex. Stat chest X-ray was performed which revealed extensive PM associated with subcutaneous emphysema in the neck and right chest wall (Figure ).\nThe patient was emergently assessed by an otolaryngologist and tracheoscopy was performed through the stoma with the tracheal tube in place. It was determined the tracheal tube was in proper position and no obvious tear or leakage in the tracheal wall was noted. Further imaging was warranted and a computed tomography (CT) of the chest, abdomen and pelvis was conducted. CT of the chest showed what appeared to be a 7-mm linear gas density projecting from the posterior wall of the upper trachea which was not seen on tracheoscopy. In addition, it also showed extensive subcutaneous emphysema of the neck and thoracic walls, extensive PM, gas density surrounding the lungs within both the pleural and extra-pleural spaces, measuring 10 mm in the anterior lower right hemithorax and less than 10 mm in the anterior lower left hemithorax (Figure ). CT of the abdomen and pelvis showed large pneumoperitoneum with posterior displacement of the viscera, numerous gas densities in the mesenteric fat and retroperitoneum, extensive subcutaneous emphysema in the soft tissues extending to the level of the labia and anterior thighs bilaterally (Figures , ).\nFor further monitoring, the patient was transferred to the medical intensive care unit (MICU). Lab results at the time of admission and discharge from the MICU are displayed (Table ).\nThe patient remained on the ventilator through the tracheostomy at 100% FiO2 with a positive end expiratory pressure (PEEP) of 0 cmH2O. Due to the substantial pneumoperitoneum, there was concern for abdominal compartment syndrome. Bladder pressure was assessed which revealed a pressure of 11 mmHg (normal range: 0-15 mmHg). Repeat chest X-ray 12 hours later showed a slight improvement in subcutaneous emphysema as less free air was evident in the soft tissue. The patient had episode of fever and was treated with cefepime for possible pneumonia. She remained hemodynamically stable and was transferred to telemetry floor for continuing cardiac monitoring. While on the floor the patient continued to receive antibiotics and remain on ventilator support. Five days later on nursing rounds, she was found to be unresponsive without a pulse. She was assessed and found to be deceased.
In August 2010, a 57-year-old Chinese male presented with epistaxis and decreased hearing for 1 month. No additional symptoms, such as a neck mass, nasal obstruction, headache, diplopia or other cranial nerve palsies, were noted. The patient had no history of previous or synchronous tumours or any family history of cancer. Nasopharyngoscopy revealed a large exophytic tumour that was covered by smooth mucosa, which grew from the right posterolateral nasopharyngeal wall in the right posterior naris. Magnetic resonance imaging (MRI) scans of the nasopharynx and neck using gadolinium enhancement demonstrated a 2.0 × 1.5 × 2.0 cm well enhanced mass over the right posterior nasopharynx with right retropharyngeal node enlargement. The tumour extended across the right parapharyngeal space and infiltrated into the medial pterygoid muscle. In addition, skull base erosion was detected with right alar lamina involvement (Fig. ). Cervical lymph node metastasis was not observed. Hematologic, hepatic and renal function tests revealed no abnormalities. The patients underwent chest and abdomen computed tomography (CT) as well as a bone scintigram, and no distant metastasis was found. A biopsy of the nasopharynx was performed.\nIn the biopsy specimen, normal salivary tissue was not present. The tumours were ill demarcated without encapsulation. Tumour cells were arranged in nests and nodules. Two morphologic patterns of the tumour cells were observed. Some small round cells exhibited dark nuclei and scant cytoplasm. Other large cells contained round to oval pale nuclei and eosinophilic to amphophilic cytoplasm. In the central region of the tumour cell nests, large cells displayed a solid growth pattern. Small dark cells were clustered at the periphery of the tumour cell nests and appeared palisaded. Prominent nucleoli and mitosis can be observed, and an average of three mitotic figures were observed per 10 high-power fields (original magnification × 400).\nIn the immunohistochemical analysis, the tumour cells were immunoreactive with P63, vimentin, and cytokeratin (CK7 and CK14) antibodies and focally immunoreactive with a calponin antibody. This case of BCAC was not positive for smooth muscle actin or CD117. The proliferative index as demonstrated by Ki-67 was approximately 10%. Based on the immunohistochemistry results and the pathological findings, which included tumour islands with solid proliferation, basaloid-like cells containing large pale and small dark cells, an infiltrative margin, cellular and nuclear pleomorphism, and prominent mitosis, the patient was diagnosed with a solid-type minor salivary gland BCAC (Fig. ).\nBased on the 2002 American Joint Committee on Cancer (AJCC) Tumor, Node, Metastasis (TNM) staging system [], the tumour was classified as stage III (T3N0M0).\nIn our case, the patient received intensity-modulated radiation therapy (IMRT) with 6 MV X-rays. The delineation of the gross tumour volume (GTV) was based on the primary tumour volume determined from the physical and imaging examinations. The clinical target volume (CTV) was defined as the whole nasopharyngeal cavity, the clivus, the skull base, the pterygoid plates, the parapharyngeal space, the sphenoid sinus, the posterior one-third of the nasal cavity, the maxillary sinus, and the drainage of the upper neck (levels II, III, and Va. A total dose of 70.4 Gy/32 F/6.2 W was administered based on the planning target volume (PTVg) (GTV with 0.5 cm margin). The PTV60 was defined as 60 Gy/30 F (CTV with 0.5 cm margin) (Fig. ). After radiotherapy, MRI and nasopharyngoscopy revealed complete disappearance of the tumour (Fig. ). The patient was followed up every 3 months for the first 2 years, every 6 months for another 3 years, and then every 12 months. A follow-up at 72 months did not detect any evidence of disease recurrence. The patient developed moderate mucositis as an acute adverse event. However, he did not exhibit any grade 3/4 late adverse events, such as xerostomia, dysgeusia, or hearing impairment.
A 5-year-old Caucasian female attended the consultant clinic at Paediatric Dental Department of Leeds Dental Institute, following a referral by her general dental practitioner regarding malformed deciduous teeth. The child's chief complaint on presentation was pain from the teeth in upper right quadrant. The pain started one week ago; it was associated with eating and it lasted for a short period. She did not suffer from any dental infection or associated facial swelling. The patient's perinatal and medical history was noncontributory and the mother reported no previous family history of dental anomalies.\nExtraoral examination revealed no pathological features. Intraorally the mucosa had normal colour and texture. In the maxillary arch, the first primary molars had hypomineralized and hypoplastic enamel defects with 54 more severely affected with rough and irregular surface, which had a yellow brown discolouration (). The crown of 55 was broken down with only the root remaining below the gingival level. The upper incisors had mild enamel opacity on the labial surfaces and 53 showed enamel pitting (). The mandibular arch had a normal number of teeth and the primary molars appear more yellowish in colour (). The mesial marginal ridge of 74 had localised enamel opacity and the incisal half of the 72's labial surface had a hypoplastic defect.\nThe patient's general dental practitioner sent an orthopantomogram (OPG) radiograph () and we have taken bitewing radiographs for caries assessment and diagnosis. The radiographic image showed 55 and 54 with classical radiographic features of “ghost teeth,” with a thin radioopaque contour, showing poor distinction between the enamel and dentine and wide pulp chamber. 55 had very thin retained roots with complete loss of the crown. 15, 16, and 17 are developmentally delayed in relation to the corresponding teeth on the contralateral side of the arch and displaying the characteristic features seen in teeth with regional odontodysplasia. Although 54 is affected by ROD, the permanent successor appears to be in the same developing stage as the other first premolars. Based on the clinical and radiographic findings, our diagnosis was regional odontodysplasia and generalised enamel defects.\nThe initial treatment plan included extraction of 55, stainless steel restoration of 54 and 64 under local anaesthesia, and caries preventative program that included regular fluoride varnish, casein phosphopeptides and amorphous calcium phosphate applications, and fissure sealant of the primary molars. However, on a subsequent visit, 54 become infected and a draining sinus developed buccal to that tooth. Hence, the treatment plan has changed to include extraction of 54 and removal of the remaining roots of 55 under local anaesthesia. The planned treatment was done under local anaesthesia over several visits (Figures and ). The removal of the remaining roots of 55 was not possible without raising a flab and bone removal because of the thin roots. Hence, the clinical decision was to remove the superficial part and leave the remaining part of the root as it is not infected. Extracted 54 and remaining roots of 55 were sent for histopathological examination. Following the eruption of the upper left first permanent molar there was deep fissure with area of enamel opacity on the mesial aspect of the palatal wall. Hence, the tooth was fissure sealed using Fuji Triage™ to prevent plaque accumulation.\nThe histopathology report for the sent specimen (54 and remaining roots of 55) described malformed enamel with underlying irregular, poorly mineralised dysplastic dentine. The pulp shows nonfusion of one pulp horn. The center of the pulp shows necrotic material with inflammatory cells associated with mineralisation. The report confirmed the clinical and radiographic diagnosis of regional odontodysplasia.\nFifteen months following the initial assessment the patient's oral condition remains stable with no evidence of dental disease. The patient was placed on a regular follow-up schedule at the department to monitor the eruption of the teeth affected by this anomaly and the presence of mineralisation defects in the remaining permanent teeth and assessing its severity to consider the treatment options and future dental care.
Case 3 presented the most complex clinical course. A 66-year-old female was referred to our hospital for SAH of WFNS grade I (E4V5M6) []. She underwent endovascular coiling for the aneurysm at left P2 segment of posterior cerebral artery []. However, on the 7th day after initial SAH, the patient revealed recurrent SAH with severe headache and slight drowsiness. Her catheter angiography demonstrated complete obliteration of left P2 aneurysm and abnormal aneurysm-like dilatation on ACoA []. Compared with CT angiography obtained at the first SAH [], this aneurysmal dilatation had been growing in 7 days, suggesting that unruptured posterior cerebral artery aneurysm was treated and the ACoA aneurysm ruptured twice. Endovascular treatment of this ACoA aneurysm was not feasible and microsurgical clipping through anterior interhemispheric approach was planned.\nOperation commenced with bifrontal craniotomy and the interhemispheric fissure was widely opened from genu of corpus callosum to rectus gyrus. There was no clippable component at the aneurysm neck because entire aneurysmal wall was disintegrated and the virtual neck of the aneurysm was only covered with a fragile fibrin cap []. Because aneurysmal neck clipping with the goal of ACoA preservation seemed difficult and right A1 segment was aplastic on imaging [], left superficial temporal artery (STA)-right ACA bypass was performed before dissecting the aneurysm in the event that aneurysm trapping was necessary []. Left STA was selected as a graft because it was larger than right STA. The parietal branch of left STA was harvested as an interposition graft. Both ends of the free graft were anastomosed with the frontal branch of the left STA and callosomarginal artery, in end-to-end and end-to-side fashion, respectively []. However, dissection of the aneurysm revealed that trapping of the longitudinal rent on ACoA contained a risk of sacrificing blood flow to the hypothalamic artery, the origin of which is adjacent to the aneurysm. Finally to spare the hypothalamic artery, an aneurysm clip was placed parallel to the rent on ACoA with slight incorporation of the arterial wall []. The intraoperative indocyanine green videoangiography confirmed blood flow both in ACoA and hypothalamic artery []. In summary, right A2 was reconstructed for potential trapping, but, in fact, neck clipping was performed with physiological flow of ACoA reserved.\nThe patient recovered well, although she was slightly confused due to symptomatic vasospasm. However, on the 7th day after the onset of the second SAH, the patient suddenly became comatose. Head CT scan demonstrated the third ictus of SAH with intracerebral and intraventricular hemorrhage []. Catheter angiography revealed irregular bulging of ACoA underneath the aneurysm clip, suggesting clip displacement and rerupture []. After confirming the left STA-right ACA bypass was still patent on the angiography [], reoperation was performed by the interhemispheric approach and the aneurysm was trapped with two aneurysm clips. The proximal clip was applied obliquely and the clip blade was placed just distal to the origin of the hypothalamic artery. Although blood flow of the hypothalamic artery looked diminished by the Doppler ultrasonography and the indocyanine green videoangiography, the clips were not replaced to prioritize complete trapping [].\nHer recovery of consciousness from comatose was excellent. Postoperative MRI revealed no cerebral infarction related to the surgical procedure []. She underwent ventriculoperitoneal shunt in the chronic stage. For a few months after operation, she manifested a wide range of cognitive dysfunction as frontal lobe syndromes, including memory disturbance and impaired comprehension, initiation, and motivation. She was able to walk independently, but most of her daily life was dependent in terms of cognitive function. However, after intensive rehabilitation, she was discharged home and was able to look after her own affairs without assistance. Her hypophyseal function was normal through her clinical course. Her mRS at 12 months was 2.
A 42-year-old G7P1051 presented at 39 weeks estimated gestational age for a scheduled elective repeat low transverse cesarean section with bilateral tubal ligation. Two years earlier, she had undergone a low transverse cesarean section for arrest of descent. Following that delivery, she had an episode of moderate dyspnea that spontaneously resolved without evaluation or treatment. Her medical and surgical history was otherwise unremarkable. During the current pregnancy, her antenatal course was complicated by class A1 gestational diabetes mellitus treated with diet.\nOn the day of her cesarean delivery, her vital signs and physical exam were normal, and her hemoglobin was 12.6 gm/dl. Her surgical procedures were unremarkable and the estimated blood loss was 600 mL.\nApproximately twelve hours after delivery, the patient experienced the sudden onset of dyspnea. Initially, she had no other symptoms such as chest pain, cough, palpitations, or calf pain. On physical examination, she had moderate respiratory distress with tachypnea (RR 24/min) and tachycardia (HR 107 bpm). The patient's pulmonary exam revealed tachypnea with use of accessory muscles, shallow breaths, and coarse crackles bilaterally at the bases. The cardiovascular exam demonstrated tachycardia with regular rhythm and a diastolic murmur was appreciated. No S3 or S4 heart sounds were noted at the time. The patient required oxygen supplementation via nasal cannula at 2 liters per minute to maintain saturation at > than 95%. Laboratory work was sent and her hemoglobin was reassuring at 12.0 gm/dl.\nSeveral hours later, the patient continued to experience dyspnea with an increased demand for supplemental oxygen, requiring a high flow face mask at 10 liters per minute. Vital sign abnormalities progressed to a more concerning state of respiratory distress as her heart rate increased to over 115 bpm and her respiratory rate to > 26/min. A diagnosis of pulmonary embolism (PE) was considered and a spiral CT was ordered. The preliminary read of the CT scan demonstrated small bibasilar pleural effusions with extensive parenchymal airspace disease and multifocal areas of patchy, bilateral consolidation with relative sparing of the periphery in the upper lobes, consistent with underlying infection, hemorrhage, evolving ARDS, or progressive pulmonary edema. No evidence of a PE was noted on the preliminary reading.\nOver the next three hours, the severity of her tachycardia and tachypnea increased (HR > 120 bpm and RR > 28/min). She developed orthopnea and hemoptysis suggestive of heart failure. Administration of intravenous furosemide resulted in partial resolution of her symptoms. Cardiac echocardiogram was obtained for a tentative diagnosis of postpartum cardiomyopathy. However, rather than an enlarged heart, the echocardiogram revealed a large left atrial mass obstructing the mitral valve and resulting in functional mitral stenosis.\nThe patient underwent an emergent thoracotomy approximately 48 hours after her cesarean delivery. A 5 cm, intracardiac tumor consistent with an atrial myxoma was found adherent to the inferolateral left atrium and the annulus of the mitral valve. The tumor was completely resected and sent for pathological examination. Microscopic analysis revealed a benign atrial myxoma.\nThe patient was transferred to SICU postoperatively in stable condition and was monitored closely. Over the next two days, despite the patient being initially extubated and clinically stable, the patient's condition deteriorated and she developed signs of cardiogenic shock. A transesophageal echocardiogram revealed evidence of severe aortic insufficiency and the patient was emergently taken back to the operating room 48 hours after her initial cardiac surgery.\nAt the time of her second open heart surgery, she was found to have disruption of the noncoronary posterior cusp of the aortic valve which had separated from its base at the aortic root likely secondary to aggressive resection of the myxoma during the initial surgery resulting in severe aortic insufficiency. The patient underwent aortic root replacement with the insertion of a bioprosthetic aortic valve.\nAfter surgery, the patient required initial hemodynamic support with an intra-aortic balloon pump and pressors. After a slow recovery, she was discharged to home twenty days following her second cardiac surgery. The patient did well at home requiring 20 mg of furosemide and 81 mg of aspirin daily as her only medications. At two months, a follow-up echocardiogram showed no signs of heart failure or aortic insufficiency with an estimated ejection fraction measuring 60%–65%. The patient has resumed all physical activity at the level prior to her cardiac procedures and has no long term sequelae.
A 47-year-old previously healthy Sinhala female's right foot was bitten by a snake near the back door of her home in the Kegalle district, Sri Lanka. Within seconds, she felt burning pain ascending along that limb, and there was heavy bleeding from the site of bite. Within a couple of minutes, she felt dizziness, nausea, and numbness of the whole body, had profuse sweating and frothy salivation, and was screaming in pain from the site of bite. On the way to the nearby hospital, she started to clench her jaw tightly and limbs became rigid; she was frothing and was not responding for about 5 minutes, indicating a generalized seizure. She arrived at the hospital within 30 minutes. The doctor at the outpatient department decided to administer ASV and directed the patient to an internal medicine ward for that. Physical examination findings at the ward were a pulse rate of 100/minute and blood pressure of 150/90 mmHg, and lungs were clear to auscultation bilaterally with an arterial oxygen saturation of 95% whilst breathing air with no neurological deficit. By this time, the killed snake was brought in and doctors identified it as a HNV; thus, antisnake venom (ASV) was not administered. Even though there was bleeding at the site of the bite even on admission to the hospital, her 20-minute whole blood clotting time, platelet count, prothrombin time and international normalized ratio, and activated partial thromboplastin time and liver function tests were all normal. Urine sample obtained via the catheter showed 50–55 red cells per high-power field, arterial blood gases indicated a compensated metabolic acidosis, and serum sodium and potassium levels were normal. Her urine output was <100 ml for the first 24 hours and serum creatinine rose from 80 μmol/l to 277 μmol/l. She was transferred to the Teaching Hospital, Kandy, on day 2 for further management.\nOn day 2, a bulla developed at the site of the bite, and there was an edema and warmth at the right foot. Complete (full) blood count demonstrated neutrophilic leucocytosis, and the CRP level of the following day was 261 mg/l. Intravenous antibiotics was started to cover the wound infection. Serum creatinine was 377 μmol/l with oliguria on day 2. Serum sodium and potassium levels remained within the normal range from day 1–5. On the day 5, creatine kinase was 75.1 U/l. Regular hemodialysis every other day from day 2 to day 24 and fluid management were started. Oral sodium bicarbonate was started, and management of her acute kidney injury with collaboration of nephrology team continued.\nOn day 3, her blood pressure rose to 160/90 mmHg, and it was controlled by prazosin and nifedipine SR; however, it generally remained on or above 140/90 mmHg until her discharge. She developed bilateral lung crepitations on day 3 that remained for 7 days. She developed bilateral parotid swelling and edema of the right leg on day 3, and it lasted 3 days. Edema below her right knee persisted another 10 days. Her blood picture on day 2 did not show hemolysis and was suggestive of bacterial infection but blood picture on day 5 showed evidence of microangiopathic hemolytic anemia (MAHA), and same changes were there in a blood film taken on day 11, as depicted in .\nHer day 2 hemoglobin level of 10.8 g/dl dropped to 8.4 g/dl on day 5. On day 2, her platelet count was 104 × 109/l and that dropped to nadir of 29 × 109/l in day 6 and was <150 × 109/l until day 20. A consultant in transfusion medicine has assessed her, and blood transfusion and plasmapheresis was performed on day 7. Another four cycles of plasmapheresis followed. Local edema at the site of the bite increased with necrosis (); thus, wound debridement was done on day 7 and followed up by regular wound toilets.\nWe did an electroencephalogram (EEG) on this patient on the earliest available day (day 11) and that was normal. The 2D echocardiogram done on day 17 was also normal.\nThe offending snake's carcass was taken to the Peradeniya University, and an expert on HNV, Dr. Kalana Maduwage, has confirmed it as a Hypnale hypnale. is a photo of the offending snake.\nAs her daily urine output improved to >1000 ml, she was discharged on day 30 and asked to come for a review in five days. She defaulted treatment and was on alternative medication. After developing progressive bilateral ankle edema and exertional dyspnea, she came back again on day 46, and hemodialysis and supportive therapy were restarted at the nephrology unit. On day 49, she had an anterolateral non-ST-elevation myocardial infarction (non-STEMI), and she was managed at the cardiology unit. She had progressive impaired vision of the left eye starting from a few days after the snakebite and could not count fingers held 30 cm in front of that eye on the 46th day. She was referred to the eye unit, there was bilateral optic disc edema more on the left, the patient was diagnosed of left anterior ischemic optic neuropathy (AION), and steroid therapy was started. Her erythrocyte sedimentation rate and contrast-enhanced computed tomography (CECT) brain done on day 53 were normal. is a photograph of fundi of this patient.\nShe had two episodes of seizures on day 76, and we suspected a possible relationship to her envenomation. The opinion of the neurology team regarding three seizures was obtained. Repeated EEG and CECT brain were normal. Despite being on calcium carbonate 500 mg plus 0.25 μg 1-alpha-hydroxycholecalciferol daily from day 46, her serum calcium level was low (1.8 mmol/l). Last two seizures were attributed to hypocalcemia due to chronic kidney disease following HNV envenomation, and daily calcium carbonate dose was increased to 500 mg thrice daily. After three months, she was diagnosed of end-stage renal disease by nephrology team and on hemodialysis once in four days and was searching for a kidney donor at six months.
A 75-year-old man with a past medical history of diabetes mellitus was admitted to the Emergency Department of our University Hospital. He had a history of acute low back pain in the region of the lumbar spine in the last 4 days before his admission to the hospital. Two days before his admission he experienced lower leg weakness and fever (oral temperature 38.5°C). Clinical examination showed neck stiffness. After initial evaluation and brain CT scan – which revealed no damage – he had a lumbar puncture. The patient hospitalized with the diagnosis of meningitis (CSF: 765 white cells per cubic millimeter, elevated protein level: 70 mg per deciliter, decreased CSF glucose levels: 35% of serum glucose). Staph. aureus was cultured from cerebrospinal fluid (CSF) sample.\nThe neurologic condition of the patient impaired very quickly and at the end of the third day, after his admission, he developed paraplegia. Deep tendon reflexes were absent in the lower limbs and severely diminished in the upper limbs. After neurosurgical consultation an emergency magnetic resonance imaging scan (MRI) of the brain and the whole spinal spine was performed, five days after the admission of the patient to the hospital. It revealed a contrast-enhancing subdural mass collection posterior and left lateral to the spinal cord at the level L2 – L4 which was compressing the spinal cord. It also revealed arachnoiditis in the whole thoracic and lumbar vertebral body of the spinal cord. After intravenous contrast administration there was an intense enhancement on the boundaries of the collection and widespread meningeal enhancement (figures and ). Brain MRI with intravenous contrast revealed no intracranial abnormalities.\nMeanwhile, at the end of the fifth day, the condition of the patient impaired with respiratory failure and quadriplegia and he was admitted to the ICU. The patient remained alert and cooperative. Laboratory data showed a leukocytosis of 20,000/mm3 with a left shift, median elevated serum alkaline phosphatase (789 IU/l) and decreased albumin (2.8 g/dl). Also the C-reactive protein was elevated (17.5 mg/dl).\nA L2–L4 laminectomy with midline incision of dura and arachnoid was performed eight days after the admission of the patient into the hospital. The purulent material of the abscess was observed posterior and left lateral to the spinal cord and unfortunately extended in the whole lumbar vertebral body of the spinal cord (according to the surgeon, there was possibly an empyema to the whole vertebral body of the spinal cord). An empyema was extended to lumbar nerve roots and to the psoas muscles. The purulent material was removed at the levels of laminectomy and the vertebral body copiously irrigated superiorly and inferiorly with saline solution. The wound was closed, and a usual drainage system was placed (inflow/outflow drain). Cultures from the purulent material and the blood were positive for staph. aureus.\nDespite the removal of the purulent material and the appropriate antibiotic treatment (IV vancomycin, meropenem, fluconazole) the neurologic condition of the patient declined immediately after the operation and he developed severe impairment of consciousness. Except respiratory failure, which was always a problem, hemodynamic instability was also reported during his ICU stay. In ICU, all failure systems were supported. The patient was well hydrated, he was fed with enteral nutrition and he had an early tracheostomy in an attempt of weaning from mechanical ventilation. Inotropic and vasoactive agents were needed to stabilize mean arterial pressure >65 mmHg. The patient died 6 weeks after his ICU admission.
The patient is a 33-year-old male with a known case of chronic relapsing ITP diagnosed in 2012. Additionally, he is diagnosed with temporal lobe epilepsy on anti-epileptic medications, Graves’ disease status post radiation of thyroid and on levothyroxine replacement, and valvular heart disease.\nThe patient presented at the time of diagnosis in April 2012 with severe thrombocytopenia that was complicated by pulmonary hemorrhage which required ICU admission. His investigation at the time showed platelets count of only 1 × 10 9/L (normal range 150–450 × 109/L). The patient was treated with intravenous immunoglobulin (IVIG) and steroids (Prednisone 25 mg/day), responding for 4 months with a rise in platelet count to 62 × 10 9/L. After which he relapsed developing epistaxis, purpura and a platelet count of 2 × 10 9/L. Again, the patient was treated with higher dose of steroid (30 mg/day) and IVIG and a surgical team was consulted for possible splenectomy. A bone marrow aspirate and biopsy was preformed which showed increased megakaryocytes consistent with ITP and was otherwise normal. Laparoscopic splenectomy was done in October 2012, the surgery went well and the patient was discharged in good condition. Three years later in December 2015, he presented again with bleeding and ulcer in the oral cavity and minimal episodes of fresh blood per rectum. He was admitted as a case of chronic relapsing ITP with platelets of 6 × 10 9/L, which increased to 96 × 10 9/L after a short course of steroid (Prednisone 25 mg/day), and IVIG. About 3 months later in March, he relapsed with platelets of 3 × 10 9/L. During hospital course, he underwent CT scan of abdomen and pelvis with contrast which revealed a small-sized mass originating from the medial part of the tail of the pancreas that was suspected to be an accessory spleen (). Thus, a surgical team was consulted and a colloid scan was advised that confirmed accessory spleen originating from the tail of the pancreas (). Repeated bone marrow aspirate and biopsy was done in the same admission to rule out malignancy.\nMeanwhile, IVIG and steroid were continued and a laparoscopic accessory splenectomy (LAcS) was performed on the scheduled date in April 2016 as the patient was seen by neurology and cardiology for his conditions and found to be fit for surgery. Platelet count on the day of surgery was 230 × 10 9/L. The intraoperative setting confirmed the radiological data of accessory spleen which was surrounded by a fibrotic capsule that separates it from the adjacent pancreatic parenchyma, consistent with gross examination reported in the literature []. Using three trocars including the scope, the lesser sac was opened and pancreas was localized. Then the inferior border of the pancreas was dissected to find the small splenule in the inferior part which was removed from within the pancreas. The surgical time was 80 min, following which there were no post-operative complications. Pathologic assessment of the excised tissue confirmed the specimen to be accessory spleen. As expected, within a few days, platelets increased up to 754 × 10 9/L and the patient was started on Aspirin 81 mg daily for 3 months.\nThe patient was followed up regularly in hematology clinic and was continued on prednisone 20 mg daily and Eltrombopag 50 mg daily until both were tapered off in May 2016. His platelets continued to range from 265 × 10 9/L to 363 × 10 9/L since then. Although his platelet count dropped slightly during his last clinic visit on October 2018 (30 months’ post-surgery) where it was 130 × 10 9/L, it was still considered acceptable as it did not reach a threshold level that could cause a significant increased risk of bleeding.
About 4 months back, a 25-year-old young man had high-grade fever, headache and vomiting for 5 days and later developed altered sensorium. He was admitted in the intensive care unit of a nearby hospital for 10 days. Investigations revealed a positive dengue NS1 antigen test. He was treated symptomatically and over the next 15 days, the sensorium gradually improved. During the recovery phase, the patient was found to have dysarthria and reduced speech output. Two months following encephalitis, he developed slowness while walking and a feeling of stiffness in both lower limbs. He required one-person support to walk and had toe walking with bent knees. In addition, he developed snapping of fingers of left-hand which was repetitive, purposeless and non-goal directed. It was present for most of the day and was partially suppressible. There was no feeling of discomfort or urge to perform these movements on voluntary suppression. It was sometimes associated with tremulousness of left index finger. The patient was aware of the symptoms but could not control them completely. These movements would subside during sleep. There was no progression in the severity of these snapping movements till the time he presented to us.\nHe was born to a non-consanguineous parentage with normal birth and developmental history. There was no history of neurological illness, movement disorders (dystonia/parkinsonism) or psychiatric illness in the family. There was no history of psychiatric illness in the past and he was never treated with dopamine blockers or other medications. There was no history of alcohol or substance abuse. Our patient hails from north Karnataka state in the southern part of India which is endemic for dengue. He was working in a grocery shop and there was no history of exposure to alcohol or chemicals/solvents.\nOn examination, the patient was conscious, alert and responsive to commands. His vital parameters were within normal limits. On neurological examination, he had mild up-gaze restriction along with jerky pursuits and normal saccades. He also had reduced facial expression. His speech was severely hypophonic with palilalia. Examination of other cranial nerves was normal. Paratonia was observed in both the upper limbs and spasticity in lower limbs. There was a mild head flexion to left with dystonic posturing of right hand. Hand grip of both sides were normal. Lower limb movements were restricted due to spasticity; however, he was able to lift against gravity. All deep tendon reflexes were brisk with bilateral extensor plantar responses. Sensory examination was normal.\nHe had repetitive, coordinated and patterned snapping movements involving the left thumb and middle finger which were partially suppressible. In addition, there was slow and coarse tremor of the left index finger (). Generalized bradykinesia was present along with micrographia. He had a stooped posture with knees flexed, severe freezing of gait and needed one-person support to walk, (). Other systemic examinations were unremarkable.\nHis routine blood investigations- complete hemogram, liver and kidney function tests were normal. Serum IgM antibodies against dengue virus were detected. Antibodies against chickungunya and Japanese encephalitis infections were negative. Screening for HIV, Hepatitis B, hepatitis C and valuations for autoimmune encephalitis were negative. Serum copper/ceruloplasmin were within normal limits. CSF was acellular and normal protein and glucose. Ultrasound abdomen was normal. Brain MRI showed atrophy with bilateral basal ganglia T2/FLAIR hyperintensities without any contrast enhancement (). He was treated symptomatically with combination of levodopa-carbidopa (400 mg/day), baclofen (30 mg/day), pramipexole (0.75 mg/day), amantadine (100 mg/day), tolperisone (50 mg/day) and diazepam (6 mg/day). In addition, the patient also underwent physiotherapy, neurorehabilitation and speech therapy. There was minimal improvement in parkinsonism symptoms with no improvement in stereotypy.
An 84-year-old Greek man with an unremarkable medical history was admitted to our hospital with right upper quadrant pain, high fever, rigors, anorexia and weight loss over the preceding month. Clinical examination revealed tenderness in the right upper abdominal quadrant and a palpable gallbladder. Blood tests showed elevated white blood cell count and transaminases. Abdominal ultrasound and computed tomography (CT) demonstrated a markedly distended gallbladder, measuring 16 cm x 8 cm, with oedema and pericholecystic fluid consistent with gallbladder empyema (Figure ). Relying on the patient's clinical picture and the results of the imaging studies, a diagnosis of gallbladder empyema was made. Due to this diagnosis and the big size of the gallbladder, an open cholecystectomy was decided upon. No other abnormality was identified intra-operatively during the assessment of the peritoneal cavity, including lymphadenopathy and liver or peritoneal pathology. Based on the pre-operative as well as the intra-operative findings, open cholecystectomy was performed; no lymph nodes were excised. After an uneventful recovery, the patient was discharged on the 4th postoperative day.\nOn cut surface, a 2 cm firm mass obstructing the lumen in the neck of the gallbladder was identified. The mass was solid, yellowish-grey and granular with focal areas of necrosis. Under light microscopy, the tumour demonstrated invasion of the muscularis propria in some areas, with foci of necrosis and haemorrhage (Figure ). No extension to the gallbladder serosa was found. Examination of multiple regions under light microscopy did not reveal any vascular invasion. Additionally, no evidence of carcinoma was present in situ.\nThe neoplastic tissue consisted of diffusely arranged and focally syncytial large and pleomorphic tumour giant cells, with a significant infiltrating population of large multinucleated hyperchromatic cells. The giant tumour cells demonstrated hypochromatic nuclei with prominent nucleoli and severe mitotic activity (Figure ). Heterologous elements, such as osteoid and cartilaginous differentiated cells, were not identified. In addition, there was no evidence of any glandular structures. Following haematoxylin-eosin study and according to the morphology of the tumour cells, our differential diagnosis was one of undifferentiated sarcomatoid carcinoma, sarcoma or carcinosarcoma of the gallbladder.\nImmunohistochemistry was performed using commercially available antibodies against epithelial, neuroendocrine and mesenchymal markers. Secondary antibody conjugated with peroxidise-labelled polymer (Envision, Dako Carpinteria,CA, USA) 3' diaminobenzidine was used as chromogen, and finally the slides were lightly counterstained with haematoxylin. The results of immunochemistry stains are presented in Table . The tumour demonstrated remarkable immunonegativity to epithelial markers such as epithelial membrane antigen (EMA), carcinoembryonic antigen (CEA), AE1/AE3 and only mild and focal positivity to CAM5.2 (Table and Figures and ). On the other hand, mesenchymal markers (vimentin, smooth-muscle actin: SMA) were strongly positive (Table , Figures and ). The multinucleated cells showed positivity to CD68 stains (Table ). Osteoclast-like giant cells were considered to be of histiocytic origin because of their PGM1 and KP1 positivity. Markers for neuro-endocrine tumours, lymphomas and melanoma were negative. The entire procedure was repeated by another technician for more reliability, with exactly the same results. Electron microscopy was not performed.\nDespite the negativity to almost all epithelial markers based on the monophasic tumour immuno-reactivity (that is, there was no evidence of two different components that would have lead to the diagnosis of a carcinosarcoma), the absence of heterologous components, and the focal positivity to CAM5.2 (which is a strong marker for the epithelial origin of a tumour), our final diagnosis was that of a primary, undifferentiated, giant cell type carcinoma of the gallbladder with sarcomatoid dedifferentiation infiltrated with osteoclast-like giant cells.\nFollowing histopathological diagnosis, further thorough investigation did not reveal any abnormality confirming, thus, the diagnosis of a primary gallbladder neoplasm. The patient died 2 months after the operation from disseminated disease; particularly, head, chest and abdominal CT scans showed multiple brain, lung and hepatic metastases.
Patient 1 (P1), a 13-year old female with physician-diagnosed severe milk allergy began TCM in February 11, 2011 with the goal of preventing reactions while continuing on a dairy restricted diet.\nThis patient was diagnosed with milk allergy at 3 months of age after an ER visit due to anaphylaxis (widespread hives, vomiting and difficulty breathing) immediately following ingestion of cow milk based formula. She subsequently experienced numerous reactions; and the frequency and severity of these reactions worsened over time. Despite a dairy restricted diet, during the 2-year period prior to starting TCM she experienced >100 reactions (at times a reaction every few days, averaging 50 reactions/year). Fifty events required prednisone and epinephrine administration, 40 required ER visits, and 3 resulted in intensive care unit (ICU) admissions. In the three months before TCM, her reactions became even more severe; 5 of 10 events required epinephrine and ER visits. These reactions were characterized by hives, rash, lip swelling, throat tightness, wheezing, stomach pain, headache, weakness, dizziness, syncope, hypoxia, and drop in blood pressure. Her overall severity score during the 3-month period before beginning TCM was 29 (Figures and ). Her reactions were triggered by inhalation and contact in addition to accidental ingestion of trace amounts of dairy products. Anaphylaxis events were so frequent and severe that she was unable to attend school in the 4 months prior to her first TCM visit. She also complained of chronic stomach discomfort. Her milk protein specific IgE levels were elevated at 37.3 kU/L. She did not undergo milk protein skin testing because her history of severe skin contact induced reactions, raised concern that severe reactions might occur.\nThis patient lives in another state that outside New York state. The impact of these reactions on quality of life is illustrated by the fact that the patient’s father drove for three days to bring her to New York City for the first TCM visit because of fear of a possible reaction to trace amounts of milk protein while on an airliner. She was prescribed all 4 TCM remedies: Remedy A, started with 1 pill, gradually increasing to 5 pills, 10 pills and 12 pills, twice daily (b.i.d), and then three times daily (t.i.d.). 12 capsules t.i.d was the full dose for patients 12 and above based on the manufacturing extraction yield of raw herbs (Additional file : Herbal constituents and doses). The protocol to gradually increase the dose was to ensure the safety and tolerability. Remedy B, 3 pills, b.i.d.; Remedy C (bath additive) 2 packs per bath once a day (q.d.), and Remedy D (cream) applied to her entire body, including the face, q.d.. Since her reactions often began with throat tightness or pain, Fructus Arctii Lappae, which has been traditionally used for throat ailments [], was added during the treatment course. Acupuncture was also performed at each visit. She tolerated the medicine regimen very well and after approximately 3 months no longer complained of stomach discomfort that she used to have before TCM. Follow-up visits took place every 3–6 months, a total 8 visits. Her FSFA slightly improved after 6 months of TCM and greatly improved after 1.5 years of TCM, and she was able to resume school. After 2 years of treatment, the number of reactions was reduced by 90%. None required epinephrine, or ER visit. Symptom severity was reduced by 56%, based on total scores (Figures and ). She was able to work a summer job as a lifeguard, and she and her father no longer feared flying to New York for her two-year TCM visit. She experienced no reactions during the final 6 months of TCM (Years 2–2.5) (Table , Figures and ). Her baseline milk specific IgE level of 37.3kU/L has been declined to 19.0kU/L. Her FLIP score reduced to 25 from 35. No abnormal liver and kidney function test results before or after TCM therapy (AST, 20 and 18, reference 14-37u/L; ALT, 16 and 30, reference 8–36 U/L; BUN, 12 and 9, reference 7–25 mg/dL) were observed. She has reached her primary goal of avoiding reactions while on a dairy restricted diet, and is continuing TCM therapy with a new goal of maintaining the beneficial effect and to possibly become tolerant to milk allergens.
A 40-year-old man was admitted to the emergency department due to severe chest pain. He complained of persistent tightness in the left anterior chest. An emergent coronary angiogram (CAG) revealed total occlusion of the proximal left anterior descending coronary artery (LAD). Percutaneous coronary intervention with stent implantation in the LAD successfully restored coronary blood flow and completely relieved his chest pain (). Five days later, the patient began to complain of left anterior chest discomfort, which gradually worsened over the next two weeks. Although the cardiologists again performed a detailed evaluation of cardiac function, there were no changes in the electrocardiogram and cardiac enzymes and no in-stent restenosis or de novo lesions seen on the CAG. Over the next year, the patient visited the emergency department and admitted several times due to his relentless chest pain, thus the total days of hospitalization was about half a year. Multiple cardiac evaluations were performed to elucidate the cause of the angina. Another stent was implanted in the obtuse marginal branch of the left circumflex artery for intermediate stenosis. Ergonovine-induced spasm in the right coronary artery was detected on another angiography, and the cardiologists added a calcium channel blocker to the patient's medications. However, these additional interventions did not improve his symptoms. Adequate results could not be obtained on an exercise electrocardiogram, due to the patient's poor exercise tolerance. Echocardiography showed persistent ischemic cardiomyopathy with moderate left ventricular dysfunction. A follow-up coronary angiogram showed patent previously stented arteries and no significant stenosis in other arteries.\nWhen the patient was referred to the pain clinic, he was experiencing paroxysmal deep anterior chest pain 2 or 3 times a day. The pain was of a squeezing and pressing nature, 7 to 8 on a numeric rating scale (NRS, 0 = no pain, 10 = maximum pain), and was not relieved by sublingual nitroglycerine. For several months, while the patient was prescribed oral morphine 90 mg, gabapentin 1,800 mg, and nortriptyline 20 mg per day, we tried various procedures to control his pain, such as stellate ganglion block, percutaneous thoracic sympathetic neurotomy using thermal radiofrequency, epidural morphine injection, and intravenous ketamine infusion. These techniques all had only temporary efficacy. Finally, despite a continuous epidural infusion of morphine, his paroxysmal angina was worsening, rising to 8 to 9 on the NRS.\nAfter careful discussion with the patient and his family, they agreed to a trial of SCS. The patient was taken to the operating room, monitored, and placed in the prone position. Anesthesia was accomplished by local anesthetic infiltration. A 15-gauge Tuohy needle was inserted in the T4-5 interlaminar space under fluoroscopic guidance. The epidural space was identified using a loss-of-resistance technique. An Octad lead 3778 (Medtronic Inc., Minneapolis, Minnesota, USA) was inserted through the needle and advanced under fluoroscopic guidance until the tip lay at the C7-T1 intervertebral disc level (). The stimulation parameters were pulse width of 270 µs, amplitude of 2.0 mA, and frequency of 50 Hz. During the 10 days of trial stimulation, the intensity and frequency of the patient's chest pain was reduced by 60-70% without epidural infusion of morphine. Therefore, a permanent pulse generator (RestoreUltra™, Medtronic Inc., Minneapolis, Minnesota, USA) was implanted into the subcutaneous space of the right lower quadrant of the abdomen. The patient's chest pain decreased to 2 to 3 on the NRS, and he was satisfied with a treatment regimen of SCS and oral morphine 90 mg, gabapentin 1,800 mg, and nortriptyline 20 mg per day. Although the doses of medication did not decrease, the improvement in the patient's clinical symptoms persisted at the follow-up evaluation performed 1 year after surgery.
A 36-year-old Chinese man presented with 26 months of progressive motor aphasia and cognitive decline. Fourteen months after the initial symptoms, he began complaining of mild right-sided weakness. He was admitted to our hospital for acute exacerbation of confusion and weakness of limbs lasting 3 days. Upon further questioning after admission, the patient indicated that he had been experiencing slight vision loss for 11 months, particularly the right one, which had not attracted any attention due to the ametropia of both eyes. Neurological examination revealed bradyphrenia, motor aphasia, normal pupillary response but decreased visual acuity of bilateral eyes (visual acuity could not be measured using the standard logarithmic visual acuity chart due to the poor consciousness state of the patient), right central facial palsy, dysarthria, and quadriplegia.\nHis medical history included papillary thyroid cancer for over 1 year without any special treatment and chronic hepatitis B virus infection and cirrhosis for 10 years under regular anti-virus therapy. The patient had no siblings. Family medical history revealed that his father had developed a brain mass of unclear etiology and died at the age of 34. While his mother did not suffer from any neurological disorder.\nThe first MRI and brain biopsy were conducted 22 months ago in another hospital. We observed a T2 hyperintense massive subcortical lesions with rim enhancement in the left frontal lobe (Fig. a and d) and a non-enhanced nodular lesion in the left cerebellum. Histopathology of the former lesion indicated focal necrosis and reactive gliosis, along with vessel wall hyalinization and inflammatory cell infiltration. The patient was tentatively diagnosed with TDLs 18 months ago. Three courses of high-dose intravenous methylprednisolone and two courses of intravenous cyclophosphamide had been given subsequently during the following 16 months. The patient received repeated brain MRIs every six months. Cerebral edema reduced while contrast enhancement still existed and a surgical trail was left in the frontal lesion. The new lesions appeared in the left temporal-occipital lobe and the right temporal lobe on serial images (Fig. b, c, e, and f) and gradually deteriorating clinically indicated these treatments failed to prevent relapse.\nCurrent laboratory examination revealed mild anemia, mildly elevated liver enzyme levels, and elevated thyroid autoantibodies. Cerebrospinal fluid (CSF) analysis showed normal pressure and only slightly elevated protein. No antibodies associated with ganglioside or autoimmune encephalitis (against NMDA-R, CASPR2-R, AMPA1-R, AMPA2-R, LGI1, GABAB-R, DPPX) or paraneoplastic neurologic syndromes (against CV2/CRMP5, PNMA2, Ri, Yo, Hu, Amphiphysin) were detected in CSF and serum. CSF oligoclonal band, serum AQP4-IgG, and MOG-IgG were not detected. Whole-body 18F-fluorodeoxyglucose-positron emission tomography/computed tomography showed no evidence of malignancy. Repeated non-contrast computed tomography (CT) of the head showed hypodense lesions and several punctate calcifications (Fig. a). A second brain biopsy of the lesion in the left temporal-occipital lobe was obtained but only revealed a similar result to the first time (Fig. b and c). We confirmed retinal vasculopathy using fundus photography and fluorescein angiography (Fig. d), leading us to suspect hereditary vasculopathy. Whole exome sequencing identified a heterozygous GTCA insertion (c.741_742insGTCA) in the TREX1 gene (NM_033629) resulting in a frameshift mutation (p.T249Sfs*14). Nucleotide change was confirmed by Sanger sequencing (Fig. a). Therefore, we diagnosed the patient with RVCL-S. Genetic testing of the mother, aunt (father’s sister), and son showed that all lacked the mutation (Fig. b, c, and d).
We present a case of a 58-year-old female patient with a large recurrent ventral hernia. Six years before, the patient had been operated on for the umbilical hernia, with the simple repair without a mesh. The patient was an active smoker who suffered from morbid obesity with a body mass index of 43 kg/m2 and COPD as comorbidities relevant for this case report.\nThe patient was introduced to the surgeon during hospitalization at the gastroenterology department where a diagnostic workup due to a clinical picture of chronic small bowel obstruction was conducted. While taking the anamnesis, the patient reported frequent abdominal cramps, swelling, and pain in the area of the hernia that had intensified in the last few weeks. The physical examination revealed a large irreducible ventral hernia in the lower abdomen that was quite painful on palpation, but soft and, at that time, without signs of incarceration or strangulation. Taking into account the clinical picture with threatening hernia incarceration, the surgeon did not opt for preoperative optimization of the patient in terms of smoking cessation and starting a weight loss program but made an indication for semielective surgery.\nOn operative procedure, greater omentum, part of the transverse colon, and a cluster of small bowel loops with signs of chronic obstruction were found as hernial content. After adhesiolysis hernial content was reduced into the abdominal cavity. Hernial defect measuring about 7 cm in diameter and about 15 cm in the vertical line with significant rectus diastase in the supraumbilical part of the abdomen was revealed. Using the Rives-Stoppa technique a wide retromuscular space was created. Lateral dissection boundaries of this space were perforating neurovascular bundles in the area of the lateral edges of the rectus muscle on both sides. The posterior fascia was easily closed using also a portion of the hernia sac to bridge the defect between the posterior rectus sheaths. A 30 × 25 cm polypropylene mesh was placed in the retromuscular space ensuring adequate mesh overlap over the edges of the hernia defect of a minimum of 5 cm in all directions.\nWhen we observed that the anterior fascia, due to the size of the defect and decreased abdominal wall elasticity, would not close entirely and cover the mesh, we opted for rectus mobilization by the ACS method to avoid bridging. Upon extensive dissection of the anterior abdominal wall subcutaneous space without preservation of the rectus perforator vessels, relaxing incisions of the external oblique muscle aponeurosis were performed. Using the Ramirez technique, long longitudinal incisions of aponeurosis were made bilaterally, adjacently to the semilunar line, extending from the costal arch to the groin. This procedure resulted in the considerable mobilization of the vital musculofascial flap medially, and the hernial defect was closed at the midline without tension. Then, four redon drains were placed, i.e., 2 in the retrorectus space and another 2 in the subcutaneous space.\nThe postoperative course was complicated by skin ischemia. Ischemic lesions of the abdominal wall skin on the right with signs of necrosis along the midline were observed already on day 8 (). On postoperative day 11, multi-slice computed tomography (MSCT) of the abdomen was performed because of the ever more abundant wound discharge. MSCT findings showed a large subcutaneous seroma, a normal musculofascial component of the abdominal wall, appropriate mesh position, and normal intra-abdominal status. Percutaneous puncture of seroma was performed and about 800 ml of clear seroma was evacuated. During the next 10 days, ischemia progressed, along with the development of another two full-thickness skin necrotic foci paramedially (). Considering the relatively strict demarcation area of necrosis, we opted for the operative procedure of necrosectomy.\nFollowing abdominal wall necrosectomy with a safety margin of healthy tissue and considering an appropriate amount of vital residual abdominal skin, as well as the absence of signs of local tissue infection or mesh infection, primary wound closure was performed in consultation with a plastic surgeon (). As early as day 4 of the second operation, increased wound discharge and signs of skin wound dehiscence occurred, which required removal of skin sutures (). Then, a wound dressing with a hypertonic solution was applied for a week.\nWhen inflammation subsided, negative pressure wound therapy (NPWT) with the “Renasis Ez Max VAC® system” (Smith & Nephew, Mississauga, Canada) was initiated (). NPWT was delivered in continuous mode with negative pressure maintained at −100 mm Hg. Dressing in the form of a sponge of polyurethane black hydrophobic foam was changed every third day. After 2 weeks of NPWT administration, considerable improvement was recorded in wound cleaning and formation of healthy granulation tissue (). NPWT was continued for the next 2 months, which resulted in further improvement of condition of the patient, along with decreased wound discharge and cavity reduction. The wound swab obtained twice during dressing change was sterile. The patient was discharged from the hospital and regular changing of silver-impregnated antimicrobial wound dressing (Aquacel Ag, ConvaTec, Reading, United Kingdom) was continued in ambulatory care that led to complete wound closure in 7 months ().
A 56-year-old woman with a history of breast cancer was referred to the Department of Investigational Cancer Therapeutics in January 2015. She had no pertinent medical history and was in good health until early 2005, when she felt a mass in her left breast. She was a non-smoker and had a family history of breast cancer and prostate cancer. Physical examination demonstrated a 3 × 3 cm mass in the 10 to 11-o’clock position in the superior aspect of the left breast and a 2 cm lymph node in the left axilla. Ultrasound-guided core needle biopsy performed in February 2005 demonstrated an estrogen receptor- and progesterone receptor-positive, human epidermal growth factor receptor 2 (HER-2/neu)-negative invasive mammary carcinoma of the left breast [modified Black’s nuclear grade 1 (well differentiated)], carcinoma in situ, low grade, solid type, without necrosis). CT scans indicated no evidence of metastasis; however, fine-needle aspiration of the left axilla lymph nodes demonstrated metastatic carcinoma consistent with the primary breast tumor.\nIn March 2005, the patient was enrolled on a clinical trial that included weekly paclitaxel chemotherapy for 12 cycles followed by six cycles of 5-fluorouracil, epirubicin, and cyclophosphamide. Four months later, imaging studies indicated a reduction in tumor size. In September 2005, she underwent a left skin-sparing total mastectomy with axillary lymph node dissection followed by delayed reconstruction using a submuscular tissue expander. Then, from October to December 2005, she underwent post-operative adjuvant radiation therapy (50 Gy in 25 fractions to the left central chest and left lateral chest wall with an additional 10 Gy boost to the tumor bed). She also intermittently received Tamoxifen between 2005 and 2008. In December 2006, imagining studies demonstrated bone metastasis and the patient was treated with radiation therapy and anastrozole plus fulvestrant from December 2006 to March 2014. The bone disease stabilized, but she had disease progression in her lungs and lymph nodes. Although her tumor did not harbor an alteration in the PI3K/Akt/mTOR pathway, she was treated with the standard-of-care exemestane and everolimus from March 2014 to January 2015.\nIn January 2015, CT scans demonstrated increasing thoracic lymphadenopathy and pulmonary metastatic disease, and a nuclear medicine bone scan demonstrated bone metastasis involving the left ilium, acetabulum, and ischium. The patient was referred to the Department of Investigational Cancer Therapeutics in January 2015 and underwent biopsy of a lung tumor. Molecular profiling of the tumor demonstrated the following genomic alterations: ATM serine/threonine kinase (ATM) loss in exons 57 to 63, notch receptor 2 (NOTCH2) A3F, estrogen receptor 1 (ESR1) Y537S, and amplification of the following genes: cyclin D1 (CCND1), myeloid cell leukemia 1 (MCL1), BRCA2 interacting transcriptional repressor (EMSY), fibroblast growth factor 19 (FGF19), fibroblast growth factor 3 (FGF3), and fibroblast growth factor 4 (FGF4) (). Early assessments suggested that preclinical models with increased cyclin D1 or cyclin-CDK-Rb pathway activation may have increased sensitivity to CDK4/6 inhibitors. However, the patient did not receive a CDK4/6 inhibitor because clinical trials were not available at that time. She was presented at the multidisciplinary conference for optimization of treatment selection. On the basis of tumor molecular profiling demonstrating multiple mutations in FGF (FGF19, FGF3, and FGF4), the patient was offered an investigational therapy comprising FGFR inhibitor, but she pursued treatment with eribulin; after four cycles she developed disease progression. Subsequently, she was treated with 11 cycles of fulvestrant and palbociclib and was taken off study owing to progressive disease in August 2017.\nOn the basis of her tumor’s NOTCH2 A3F alteration, in October 2017, the patient was enrolled on a clinical trial consisting of a NOTCH inhibitor, cisplatin, and gemcitabine. Her best RECIST response was PR per RECIST 1.1 criteria on cycle 12, day 19. She received 22 cycles of the investigational drug combination for 19 months and was taken off study owing to disease progression. Adverse events included impaired hearing and thrombocytopenia.\nThe patient underwent genetic counseling, and testing for germline BRCA1 and BRCA2 mutations was negative. CtDNA analysis in October 2018 demonstrated multiple somatic mutations which included a breast cancer type 1 (BRCA1) nonsense mutation on exon 10 (). On the basis of these findings, the patient was enrolled on a clinical trial with a PARP inhibitor. Her best RECIST response was SD with a 14% decrease in tumor measurement from baseline per RECIST 1.1, and the PFS duration was 9.1 months ( and ). Imaging studies in January 2020 demonstrated evidence of progressive disease and she was taken off study. Subsequently, she received radiotherapy and doxorubicin. At the time of this report, the patient was still alive, and the overall survival duration was 14.8+ months ().
A 49-year-old previously healthy female got admitted to hospital with a progressively worsening skin rash involving lower limbs for two-week duration. The skin rash has begun as a painful small vesicle on the left foot which enlarged in size, with crops of new vesicles appearing on bilateral lower limbs. Some vesicles enlarged to bullae and then ruptured and healed with scarring.\nShe also complained of progressive pain and numbness on bilateral lower limbs up to knees, with numbness over left fingers that had progressed over two-week duration. She denied muscle weakness or difficulty in walking. She also had progressive bilateral ankle edema and frothyuria. She denied hematuria or reduced urine output. She had constitutional symptoms with a low-grade fever and generalized malaise. She also gave a history of recent onset wheezing controlled with inhalers but denied cough, sinusitis, or epistaxis. She had no joint symptoms, digital ulcers or gangrene, or gastrointestinal symptoms.\nLower limb examination revealed an erythematous rash with small blisters and bullae of sizes varying between 2 and 4 cm with hypopigmented healed lesions with marked involvement around the ankle (). She also had few small hyperpigmented lesions on the palmar surface of the left hand. She had no lesions in the trunk, face, or mucosa. Neurological examination revealed reduced bilateral lower limb reflexes and sensory impairment up to knee level but had no motor weakness. Joint position sense and vibration sense was intact. Upper limbs did not reveal a demonstrable neurological deficit. All peripheral pulses were felt. She had bilateral pitting ankle edema and had elevated blood pressure 160/100 mmHg. Other system examination revealed normal findings.\nHer blood counts revealed a white cell count of 27,000/mm3 with a marked eosinophilia of 57% with an absolute count of 15,500/µl. Hemoglobin and platelet count was normal. The blood picture revealed marked eosinophilia without evidence of atypical cells. The erythrocyte sedimentation rate was 54 mm for the 1st hour with an elevated C-reactive protein level of 103 µ/l. The urine full report revealed proteinuria with 10–15 red cells without red cell casts. A 24-hour urine protein quantification revealed 1340 mg/24 hr (<150 mg/24 hr) excretion. However, her serum creatinine remained normal. Her serum albumin level was 30 g/l, and there was hypergammaglobulinemia with a total serum globulin level of 49 g/l. Individual globulin levels were not evaluated due to the unavailability of the investigation. Her rheumatoid factor was repeatedly high (512 and 480 µ/l) with repeatedly positive serum cryoglobulins in a qualitative assay. Hepatitis B surface antigen (enzyme immunoassay (EIA)) and hepatitis C antibody (EIA) were negative. She had positive P-ANCA (perinuclear and MPO). She had a normal C3 complement level (131.8 mg/dl (88–206 mg/dl)), with low normal C4 complement level (14.4 mg/dl (12–72 mg/dl)). Her other blood investigations, including liver function tests and antinuclear antibody assays, were normal. Chest radiograph and ultrasound abdomen were normal. Her skin biopsy revealed leukocytoclastic vasculitis with few perivascular eosinophilic infiltrates, without granuloma, and her renal biopsy revealed mild interstitial inflammation. Immunofluorescence patterns of the skin biopsy were not assessed.\nThe patient was diagnosed as having eosinophilic granulomatosis with polyangiitis (EGPA) with mixed essential cryoglobulinemia. The patient was started on a high-dose prednisolone (1 mg/kg) therapy with oral cyclophosphamide. With treatment, she had a marked improvement in her bullous skin rash and constitutional symptoms and inflammatory markers, but she had a residual peripheral neuropathy. The eosinophil count reduced to normal at the 4-week review after discharge, and the steroids were tailed off gradually, after reviewing at 6 weeks. Currently, the patient is followed up on low-dose prednisolone, and the cyclophosphamide was changed to oral azathioprine after achieving complete remission.
A 74-year-old Japanese man underwent an ultrasound examination for the evaluation of cervical atherosclerosis during which an incidental thyroid tumor was discovered. He had had a cerebral infarction eight years previously, which had been treated conservatively without major complication. There were no familial histories of thyroid disease or immune disorder claimed. Fine-needle aspiration cytology (FNA) of the thyroid tumor revealed clusters of many large atypical cells varying in size, and poorly differentiated thyroid carcinoma was suspected. He was, then, referred to our institute for further treatment.\nOn admission, he did not present with rapid enlargement of the tumor, dysphagia, hoarseness, or compression symptoms. The right lobe of the thyroid was diffusely swollen with a smooth surface and normal consistency. No local inflammatory reaction, such as redness and edema on the skin or tenderness, was recognized. No cervical lymphadenopathy was palpable. There were no abnormal findings in his blood count, blood chemistry, and thyroid function. The serum levels of calcitonin, carcinoembrionic antigen, and thyroglobulin were within the normal limits (Table \n). An ultrasonographic examination demonstrated swelling of the right lobe of the thyroid. Several irregular-shaped lesions were found in the right lobe with a maximal diameter of 21mm. Each lesion showed similar appearance; a well-demarcated lobular low-echoic lesion with diffuse short linear high-echoic spots inside (Figure \n). A similar irregular-shaped mass was revealed by contrast-enhanced computed tomography. No abnormal nodule in the mediastinum or the lung was found. Several reactive lymph node swellings were found along with right juglar chain. Repeated FNA revealed normal thyroid follicular cells with abundant lymphatic cells in the background. However, there was no evidence of tumor cells. Right lobectomy was conducted intending to clarify the pathological diagnosis with the suspicions of lymphoma, or poorly differentiated cancer of the thyroid according to the information of the primary physician.\nDuring the operation, the lesion could not be found on the surface of the thyroid. Several small lymph nodes around the right lobe were recognized. On the cut surface, the tumor was lobular and milky white in color, irregularly but clearly demarcated from the surrounding thyroid gland (Figure \n). A frozen section demonstrated marked lymphoid proliferation suggestive of lymphoma. However, immunostaining for a correct final diagnosis was advised. A pathological investigation of the operative specimen revealed several nodular tumors, leaving normal thyroid tissues between the nodules. Marked lymphatic infiltrations were found within the thyroid gland forming various nodules of lymphatic proliferations. A mixture of small and large lymphocytes with irregular nuclear borders was shown on high-power field. Tingible body macrophage, or mitosis were also recognized. There was no tendency for differentiation to the plasma cell, or no site to show the lymphoepithelial lesion (Figure \n). On immunohistochemical study, both the lymph follicle and the mantle zone were positive for B-cell marker (CD-20: Figure \na). A diffuse positive nuclear stain of cells within the follicle was shown for follicular origin B-cell marker (bcl-6, CD-10: Figure \nb), but no cells between follicles showed a positive stain for these markers. Various degrees of T-cell marker (CD-3)-positive cell infiltration was found within or around the follicles (Figure \nc). Bcl-2-positive cells were found only at the marginal zone of the follicle. No bcl-2-positive B cell was found in the germ center (Figure \nd). Dendric cells within the follicle were stained positively by follicular-dendric cell marker (CD-35), and demonstrated the preservation of a dense network-like appearance (Figure \ne). Positive reactivity for both κ and λ light chain immunoglobulin (Ig) was found by in situ hybridization (Figure \nf, g, h). Furthermore, multiplex polymerase chain reaction (PCR) analysis showed no rearrangement of IgH, indicating polyclonal proliferation of the lymphoid cells (data not shown). A final diagnosis of reactive lymphoid hyperplasia of the thyroid was made according to these pathological findings.\nThere was no particular event during the initial period of the postoperative course. No abnormal accumulation was found by whole-body Ga schintigraphy. Two months after the operation, our patient began to feel finger stiffness and knee pain. Progressive hypothyroidism became obvious with edema in his lower extremities, and 50μg of levothyroxine was supplemented, but his arthralgia progressed. On additional examination, systemic immune disorders as well as autoimmune reaction to the thyroid gland were demonstrated, and he was revealed to have systemic rheumatic arthritis (Table \n). Two hundred milligrams of bucillamine was initiated and his arthralgia relieved within a month. Postoperative ultrasonography demonstrated diffuse decrease in echogenesity without any tumorous lesion in the residual left lobe of the thyroid gland. Additional impairment of thyroid function was noted. These were consistent with the typical findings of chronic autoimmune thyroiditis. He is well without severe symptoms at 36 months from surgery, with the administration of 100μg of levothyroxine, and 200mg of bucillamine.
A 42-year-old male has been oriented to our department, complaining of unilateral facial swelling with persistent pain, one year after extraction of the left mandibular premolars.\nAdditionally, he presented a gingiva swelling in the right maxilla related to a fixed bridge.\nThe clinical exam showed palpable lymph node, nontender, freely movable on the left submandibular area, and intraoral examination revealed a painful buccal cortical expansion in relation to the first and second mandibular molars. In the maxilla, a gingival ulcer proliferative growth in relation to the restored right molars was observed with a mobility type II (). A 2D panoramic radiograph was taken and showed a well-defined unilocular radiolucency in the apical area of the second maxillary molar with no extension to the maxillary sinus. In the left side of the mandible, two well-defined radiolucencies were noted, the first in relation to the mesial root of the first molar and the second on the mandibular body apically to the second molar ().\nThe axial images of the CT scan revealed the presence of radiolucency in the maxilla with cortical bone deterioration buccally and palatally and in the mandible and a well-defined localized radiolucency in the body of the mandible (Figures and ).\nBased on clinical and radiological findings, the differential diagnosis suggested was a radicular cyst, osteomyelitis, primary bone tumor, lymphoma, and LCH.\nThe extraction of the maxillary molars was proposed by us and approved by the patient. Under loco-regional analgesia, the two teeth were extracted, and the excised tissue was sent for histological evaluation (). The result came out with an LCH diagnosis ().\nHistological examination exposed cellular proliferation characterized by unique reniform nuclei with eosinophilic cytoplasm representing Langerhans cells, in a stroma with numerous acute and chronic inflammatory infiltrate cells.\nThe patient was oriented to the internal medicine department to determine the degree of the disorder and to discuss the appropriate treatment protocol.\nHematological explorations displayed a significant increase in eosinophil count by 12%.\nAn entire body CT scan was accomplished which showed no evidence of lesions in other organs. Bone scintigraphy was completed and confirms that the lesions are limited in the right maxilla and on the left mandible (Figures and ).\nThe treatment plan we proposed and accepted by the patient was the extraction of all the teeth in the affected region followed by fractionated stereotactic low-dose RT after two months ().\nA 6-megavolt linear accelerator was used with a 0.5 mm precision of its isocenter.\nA custom-made rigid mask was fabricated and used for accurate immobilization of the head as described by Al Salah and El Hajj []. The objective of the custom-made rigid mask is to stabilize the head during the radiotherapy sessions (Figures and ).\n3D treatment planning is prepared using the CT scan images fed into the planning system (). The target volume is determinate and verified by the radiation oncologist. Dosimetry planning is organized around three isocenters for the mandible and a single isocenter for the right maxillary sinus. Planning has been done to avoid the parotid glands.\nEach of the right maxilla and the left mandible received 24 Gy in 16 fractions (1.5 Gy in each session) during 32 days.\nPreventive and palliative treatments included dexamethasone cream applied twice daily to the irradiated skin and mouth baths of a mixture of bicarbonate, antifungal gel, and local anesthetic application 3 times per day. Moreover, customized tooth adapted aligners were fabricated before the RT sessions for fluoride gel application for 5 minutes every day before, during, and after the end of RT treatment for 3 months. The patient presented a grade two mucositis during the treatment and was treated with corticosteroid oral rinses beside the good oral hygiene.\nXerostomia grade two has been experienced during the last two weeks of irradiation, but complete recovery has been reached one month after the treatment.\nThe patient was followed up in the beginning, every 6 months yearly. Complete remission was achieved clinically and radiologically after one year (Figures – ).\nThe panoramic X-ray and CBCT after 5 years confirm the complete bone healing process (Figures –).
A 53-year-old man manual worker with a 13-year history of gout in his right hallux presented to his general practitioner with right knee pain, stiffness, and giving way with no history of trauma. He had been taking allopurinol for 11 years. He drank 10 to 12 units of alcohol per week and his body mass index was 24.4. On examination, he had anterior knee pain and crepitus was felt from the patellofemoral joint. He had a range of motion from 0 to 90 degrees.\nA magnetic resonance imaging (MRI) was performed and reported a grossly abnormal patella tendon showing heterogenous characteristics with areas of architectural distortion and altered signal in all sequences. The appearances were not typical for a tendinosis but more in keeping with findings seen in gout (\n).\nThe patient was commenced on anti-inflammatory medication in addition to his regular allopurinol and referred to an orthopaedic knee surgeon. At assessment, he was found to be significantly compromised by his knee. He was unable to ride a pushbike, walk with his dog, or even get out of a chair. Plain films showed calcification within his patellar tendon (\n).\nA multidisciplinary discussion with rheumatology and radiology consultants confirmed that the likely diagnosis was a tophaceous gouty deposit within the patella tendon. His uric acid level was 560 μmol/L (above the target of <300 μmol/L set by the British Society for Rheumatology [BSR])\nand estimated glomerular filtration rate was 52 mL/min. He was referred to rheumatology who advised increasing the dose of allopurinol. A subsequent ultrasound (US) scan showed the superficial fibers of the patellar tendon relatively intact, but within the deep fibers, there were multiple hyperechoic areas with distortion of the tendon architecture. There was no significant cyst. A computed tomography (CT) scan demonstrated a markedly thickened patellar tendon with areas of mineralization within the tendon itself (\n). He was seen in a complex knee clinic with three consultant orthopaedic knee surgeons present. With the patient being fully informed about the risk of surgery and patellar tendon weakening and disruption, he was added to the list for open surgical excision of gouty tophus 18 months from initial presentation. His medical management of 200 mg/d of allopurinol had brought his uric acid down to 366 μmol/L with no side effects, but this was still above the BSR guidance. Subsequently, his allopurinol was increased to a daily dose of 300 mg.\nSurgery was performed with the tourniquet inflated at 300 mm Hg for 20 minutes. A midline skin incision was utilized, and the paratenon visualized and incised longitudinally. It was then developed as a definite layer following which the patellar tendon was encountered. The patellar tendon was incised longitudinally and stay sutures placed on either side of the tendon. With gentle traction, the deeper diseased tendon along the lower half of the patellar tendon could be exposed and excised with sharp dissection (\n). The excised tissue was sent for histology (\n). Finally, a bony spur was encountered, and this was excised with a nibbler. Postoperatively, the patient was allowed to fully weight bear, at his level of comfort. At 6-week review, the wound had healed with no postoperative complications .The patient was able to perform a straight leg raise and manage a full range of pain-free knee movement. His Oxford Knee score was 45.
In the present consanguineous Chinese family, the proband was a 42-year-old man who presented with Charcot neuroarthropathy. He was the fourth child of parents with normal pregnancy and childbirth (). Although his older brother had similar symptoms, we were unable to collect the data because he died from a severe accident in the previous year. The proband had no history of diabetes mellitus, hypertension, and syphilis, which are common risk factors for Charcot neuroarthropathy. However, he reported that he had been unable to respond to pain since birth. When he was 1 year old, he often bit his fingers without any sensation of pain; later, his parents noticed that he was incapable of experiencing pain. When he was 10 years old, he repeatedly suffered painless fractures and got burned unknowingly. When he started smoking, he often burned his fingers with lit cigarettes but did not experience pain (). Furthermore, he did not experience pain due to extreme heat or cold, although he could distinguish between hot and cold sensations. However, the proband had a complete sense of smell as he could distinguish smells of water, alcohol, or white vinegar. In his 30 s, he developed multiple joint swelling, instability, and deformities caused by repetitive microtrauma and painless fractures (). Bone and joint destruction induced a severe negative impact on the quality of his life.\nDetailed physical examination revealed swelling in the right knee, left ankle, and right elbow joint; reduced right knee flexion; valgus deformity; and left ankle varus. Skin ulcers were noted on the right knee and on the lateral side of the left ankle (). A neurological examination indicated normal cognitive function (). In addition, radiography of the right knee joint showed narrowing of the right knee joint space, blurring of the joint surface, bone destruction, and uneven density (). Three-dimensional CT scan of the left foot demonstrated that the structures of the left ankle joint, left tarsometatarsal joint, and the intertarsal joint were disordered, and the left ankle exhibited varus and subluxation (). After various evaluations, the proband underwent focus debridement and fusion external fixation of the left knee. Postoperative radiographic examination of the bilateral knee joints revealed that the internal fixation device was in place after correction of the valgus of the right knee, and there were no apparent signs of loosening or fracture (). During postoperative, the proband recovered well and could walk with crutches.\nWhole peripheral blood samples were collected and stored in ethylenediaminetetraacetic acid (EDTA) tubes. Genomic DNA was extracted using a QIAamp DNA Blood Mini Kit (250) (Qiagen, Valencia, CA, United States). WES was performed at the Berry Genomics bioinformatics institute (Beijing, China). The exomes were captured using Agilent SureSelect Human All Exon V6 kits and sequenced on a NovaSeq 6000 system (Illumina, Inc., San Diego, CA, United States). The WES data were filtered by three criteria: (1) variations outside the coding regions (e.g., intergenic, intronic, and untranslated regions) and synonymous mutations were excluded; (2) high allele frequencies relative to population databases (>0.01%) (e.g., 1,000 Genomes Project, ESP, and gnomAD) were excluded; and (3) prediction of a deleterious functional effect by bioinformatics programs (e.g., MutationTaster; Polyphen2; Combined Annotation Dependent Depletion, CADD; and SIFT), loss of function, and deleterious mutations were considered.\nSanger sequencing was performed to verify the identified variant. The primers were designed by Primer Quest Tool (F:5′-GCTGGTTGGTTTGATGTCTTAG, R:5′-GGAACTTGA CTTGCAGGAAAC). The PCR conditions were set as follows: 95°C for 30 s, 56°C for 30 s, and 72°C for 1 min, for a total of 35 cycles using T3 Super PCR Mix (TSINGKE, Beijing, China). The PCR products were electrophoresed on a 2% agarose gel. The PCR fragments were subsequently cut, and the purified fragments were sequenced on a 3730 XL sequencer (Applied Biosystems).\nWhole exome sequencing, a high-throughput sequencing technique, was performed to generate 12 Gb of data with 99% coverage and a depth of >100X. After filtration of the WES data, we finally identified a missense homozygous mutation (c.T4015C; Cys1339Arg) in exon 21 of SCN9A, which was further confirmed by Sanger sequencing (). The variant was predicted to be “disease-causing” by MutationTaster and was not found in the 1,000 Genome Browser, ExAC Browser, Exome Variant Server, or in 500 unrelated ethnically matched healthy controls. The controls were individuals presenting for routine health checkups or volunteers without similar symptoms or any positive family history of musculoskeletal system disorders and CIP.\nThe Nav1.7 mutation was predicted to result in amino acid substitutions p. Cys1339Arg in the extracellular linker joining S5 and S6 of domain III, outside the end of S5 (). Multiple alignments of SCN9A orthologs in other animal species indicated that the amino acid at position 1339 was highly conserved ().\nTo determine the genotype and clinical phenotype correlation in the patient, we investigated the effect of the variation on the electrophysiological activity of Nav1.7 by performing whole-cell patch-clamp recordings in HEK cells inward sodium channel traces of wild-type (WT) and p.C1339R mutant Nav1.7 channels. First, to construct the Nav1.7 expression plasmid, the cDNA of human Nav1.7 (NM_002977.3) was subcloned into the pcDNA3.1mod vector, and mutations (c.4015T > C, p. Cys1339Arg) (referred to as C1339R) were introduced using overlap extension PCR with primers and verified by Sanger sequencing. There was no other modification of the pcDNA3.1mod vector. HEK293 cells were cultured in 3.5 cm plastic dishes (NEST) in Dulbecco’s Modified Eagle Medium (Invitrogen, Beijing, China) supplemented with 10% fetal bovine serum, glutamine, and Penicillin-Streptomycin solution (Invitrogen). In addition, cells were grown under standard conditions (37°C, 5% CO2) for approximately 12 h. Subsequently, cells were co-transfected with WT or mutant SCN9A plus SCN1B plus SCN2B plus EGFP using the Lipofectamine 2000 transfection reagent (Invitrogen, Carlsbad, CA, United States) according to the instructions of the manufacturer and incubated for 24 h.\nFinally, custom-designed Exclamp software was used at 22 ± 2°C. The recording platform was EPC10 USB Amplifier (HEKA), and the control software was PatchMaster (HEKA). The extracellular bath solution included 140 mM NaCl, 5 mM KCl, 2 mM CaCl2, 10 mM HEPES, 1 mM MgCl2, and 10 mM glucose (pH 7.4, adjusted with NaOH). The pipette solution contained the following in mM concentrations: 105 CsF, 35 NaCl, 10 HEPES, and 10 EGTA (pH 7.4, adjusted with CsOH). The glass electrode was created using a microelectrode glass capillary (Wuhan Microprobe Scientific Instrument Co., Ltd., China, PC-10 electrode drawing instrument) using a two-step method, and the resistance of the electrode to water was controlled at 2–3 mΩ. An activation protocol was used whereby cells were voltage-clamped at a holding potential of −90 mV, followed by a 50 ms step to the activating step (−90 mV to +80 mV, 10 mV steps). The peak inward current at each activating step was quantified and presented as current-voltage curves. Finally, the data were analyzed using Igor pro6.10A and GraphPad Prism 8. Representative inward sodium channel traces of WT and p.C1339R are shown in . The results showed that the average peak current density of the p.C1339R channels was almost abolished compared with that of the WT channels (−9.3 ± 1.5 pA/pF, N = 10. vs. −119.1 ± 16.0 pA/pF, N = 22, P < 0.05) ().
A 60-year-old female experienced an acute onset headache that was temporarily relieved with ibuprofen but presented to the emergency department 3 days later due to headache persistence. It was noted that she had a medical history of triple-negative breast cancer (TNBC) and ST-segment elevation myocardial infarction, as well as a family history of lung cancer and thyroid cancer. Head computed tomography (CT) revealed a small volume subarachnoid hemorrhage within the sulci overlying the posterior left cerebral convexity []. Digital subtraction angiography (DSA) revealed a 3.9 × 3.5 × 4.2 mm aneurysm or pseudoaneurysm involving a bifurcation point of a distal M4 segment of the left MCA [ and ]. Mild stenosis of the distal parent vessel and branch vessel origins was also noted.\nEmbolization through distal navigation was attempted with a Headway® DUO microcatheter over a Synchro2® Soft microwire. However, due to the distal location, navigation was ultimately unsuccessful. Surgical clipping with intraoperative DSA guidance was then performed. The aneurysm was successfully clipped and resected, and the sample was sent for histopathology [ and ]. A postoperative CT scan of the head demonstrated expected postoperative changes involving the parietal lobe []. Histopathological examination of the aneurysm sample confirmed triple-negative invasive ductal breast carcinoma []. After surgery, the patient remained neurologically intact. Six weeks after surgery, she underwent CyberKnife stereotactic radiosurgery to the region of the resected aneurysm and began treatment with chemotherapy.\nFour months later, the patient presented once again with acute severe headache. Magnetic resonance imaging revealed multiple small lesions within the brain parenchyma, compatible with new metastatic deposits. Catheter angiography showed bilateral cerebral aneurysms, including a new mixed fusiform and saccular pseudoaneurysm arising from a distal M3 posterior division branch of the right MCA. In addition, there was a mixed fusiform and saccular pseudoaneurysm arising from a distal branch of the left callosomarginal artery with a saccular component measuring up to 2 mm in maximum dimension [ and ], as well as a 1 mm saccular outpouching arising from a distal M2 anterior division branch of the right MCA, suspicious for an additional small pseudoaneurysm [].\nGiven the patient’s medical condition, these aneurysms were not felt to be amenable to open surgical repair, and endovascular therapy would have required parent artery sacrifice with associated risk of stroke. The patient was seen by an oncologist and radiation oncologist, and it was suggested by the team that there was a chance the aneurysms would be responsive to radiation therapy. The patient was subsequently treated with whole-brain radiation therapy and chemotherapy with capecitabine (Xeloda®). Radiation was well-tolerated other than headaches and fatigue, although the patient was capable of limited self-care and confined to a bed or chair >50% of waking hours. A short-term follow-up DSA was recommended to be sure that there was no unexpected, dramatic enlargement or change in configuration of the lesions. Although a nonsurgical course had been chosen, given the paucity of data regarding these unusual aneurysms, we felt that it was important to be able to modify our recommendations to the family if a significant change had occurred, potentially indicating a very high risk of imminent bleeding. Follow-up cerebral angiography 6 days after initiation of radiation therapy demonstrated interval decreased size of the right MCA posterior division distal M3 segment aneurysm.\nOver the ensuing 4 months, CT revealed progression of malignancy in the chest, abdomen, and pelvis. Termination of chemotherapy and radiation therapy was decided, and the patient was offered palliative care. She was placed on a tapering schedule of dexamethasone (Decadron®) to control inflammation and the anticonvulsant medication levetiracetam (Keppra®). The patient died 6 months later while receiving palliative treatment.
As home care doctors and general practitioners, we encountered a 37-year-old woman with ASD who lived with her parents in Japan. Her mother had end-stage breast cancer. We visited her house regularly to care for her mother. The woman with ASD was the main caregiver and a key person for her mother because her father was visually impaired. There were some obstacles we need to overcome together, but in the end, she was able to fulfill the role of the main caregiver for her mother.\nWhen we started home care for the mother, we did not have any knowledge that the daughter was a person with ASD. However, we occasionally heard about her from home visit nurses and home care staff because they worried about whether the mother could continue to stay at home due to the lack of care provided by family members. According to home care staff members, the woman with ASD was usually not present when the home care staff visited the home for her mother's care. They could not contact her or talk with her about her mother's condition. She focused on dishwashing and did not appear concerned about how her mother's medications or clothes were organized or whether the room was clean or not. She could not communicate well with home care staff even when she talked with them. Thus, we did not initially recognize that she was a person with ASD or another developmental disorder. We were wondering why she was having trouble managing the home care schedule and chores even though she worked as an engineer. The home care staff's distrust of the daughter caused irritation and stress in the daughter and the home care staff.\nAfter a few home care visits, with the daughter's consent, the mother's care manager informed us that she had been diagnosed with ASD in adulthood. Her parents had not been informed of the diagnosis. The daughter did not want to let her parents know about the diagnosis. The home care staff started to feel strongly that it was too difficult for the daughter to continue home care for the mother. The woman with ASD also felt difficulties in communicating with staff and understanding how her mother felt or how it feels to be severely ill. Therefore, we initiated consultation and social skill training in our outpatient clinic for the daughter. We discussed the traits of ASD as well as solutions or strategies to manage ASD traits in the home care setting. When we gave her instructions, we tried to make them more specific and provided examples so that she could understand them easily. For example, we suggested that she needed to come into her mother's room to share her mother's condition when the home care staff made a visit.\nAfter several consultations, she gradually obtained life skills in communication, scheduling, and managing things related to home care, such as expectations during home care staff visits or what she should do for her mother. Her psychological stress and caregiving burden decreased day by day. We also shared the fact that she was diagnosed with ASD with home care staff as well as appropriate attitudes, support, and communication styles. We shared her behavioral characteristics with staff, such as lower interest in sharing emotions with others or having difficulties in understanding social cues such as eye contact, facial expressions, and metaphors.\nFive months after the start of home-based care, her mother's condition worsened temporarily. The woman with ASD could not understand her mother's discomfort or pain and her father's sadness and serious feelings about the poor prognosis of his wife. She could not understand why her father was at a loss for words upon hearing the doctor's explanation of her mother's severe condition. Therefore, she asked him “Didn't you hear, Dad?” in a loud voice. These types of reactions by the daughter interfered with her father's acceptance of her mother's condition and he was unable to continue to listen the explanation. After this event, we explained why her father become silent while during the explanation of her mother's condition. We made a rule that we will tell her beforehand what we would say and how she should act when we share bad news. For example, we told her beforehand that we were going to tell her father about her mother's poor condition and prognosis and asked her to listen until we finished. We also told her how her father would react and our guess of the reasons for his reaction. Inappropriate behavior that is not suitable for the situation decreased afterward. She also felt relieved that she knew what she should do and could support her father as much as possible.\nSeven months after the start of home-based care, the mother passed away at home as her mother and she herself hoped. When her mother needed to use oral opioids and subcutaneous injection of opioids, the woman with ASD was able to communicate with homecare staff and ask for help to offer better care for her mother. Her mother died peacefully without any severe pain or discomfort. The woman with ASD did not become confused and was able to accept her mother's death peacefully with her father.
A 44-year-old man was admitted to our clinic because of left knee pain. He had pulmonary tuberculosis at 6 years old. He presented pus-forming arthritis, which was presumably tuberculous arthritis, in the left knee after 2 years, with spontaneous remission after closure of the draining sinuses. Thereafter, no recurrent symptom of infection was observed. However, the deformity and growth disturbance progressed with the knee pain. He had limb lengthening and alignment correction for the leg length discrepancy and genu valgum. However, his left knee pain continued despite the deformity correction. Radiographs showed a fused knee with severe tricompartmental arthritis (Fig. ). Severe limitation in range of motion was observed on the left knee. We planned to perform one- or two-stage primary TKA depending on the presence of infection [].\nIntraoperatively, a large subchondral abscess was found in the lateral femoral condyle and lateral tibial plateau after takedown of the fusion (Fig. d). On the basis of the necrotizing inflammation with granuloma in the frozen-section biopsy, active tuberculosis was suspected. Aggressive debridement and curettage of the infected and necrotic bone and soft tissues were performed.. After bone cuts and soft tissue balancing to prepare for TKA, articulating cement spacers (vancomycin 4 g and streptomycin 2 g per 1 batch) were made intraoperatively and applied to the tibial and femoral sides in sequence using intraoperative cement molds with a previously described technique [, ] (Fig. ). Relative medial and lateral stabilities were confirmed intraoperatively after inserting the articulating cement spacers. The diagnosis of tuberculosis infection was confirmed by isolating Mycobacterium tuberculosis from cultures. We decided to delay the TKA for at least 6 to 9 months to allow the administration of antituberculous drugs []. Evaluation at 1-year follow-up revealed no recurrent infection after sufficient antituberculous drug treatment. Therefore, we recommended TKA surgery as planned. However, the patient was comfortable with the articulating cement spacers. He refused a conversion to TKA for personal reasons. At every visit thereafter, he consistently wanted to delay the second-stage surgery.\nPainless activities were possible, including gait, step ascent and descent, and rising from a chair with full load bearing. No evidence was found that suggested recurrent infection or systemic toxicity. Laboratory markers of infection, and renal and hepatic toxicities were followed up once in a year. No abnormal finding was identified. A slowly progressing small bone loss was observed at the bone-cement interface. However, no notable mechanical problem such as subluxation, dislocation, periprosthetic, or implant fracture were observed on the serial knee radiographs (Fig. a and b). At the 7-year follow-up, the patient complained of left knee pain for 2 months. Radiographic and computed tomographic evaluations revealed collapse of the medial femoral condyle with fracture of the femoral articulating spacer component (Figs. and ).\nAt 7 years after the implantation of spacers, we converted the articulating spacers to TKA using the NexGen Legacy Constrained Condylar Knee system (Zimmer, Warsaw, IN, USA). The appearance of the knee joint and the finding from the intraoperative frozen-section examination suggested no residual infection. The femoral component of the cement spacer, along with the imaging study, showed a bisecting vertical fracture (Fig. a). The tibial component was intact (Fig. b). After removing the cement spacers, the dense fibrotic granulation tissue surrounding the bone surface was exposed, especially in the medial femoral condyle (Fig. b). Excisional biopsy of the tissues was performed. Considerable bone loss with cortical bone breakage was observed in the medial femoral condyle after the debridement of the granulation tissue and necrotic bone (Fig. c). We conducted wiring for the cortical bone breakage, and an allogenous morselized bone graft was performed for the bone loss. Augmentation blocks were additionally used for the remnant bone defect. In the proximal tibia, the considerably contained bone defect was restored with an allogenous morselized bone graft (Fig. a). Histological examination of the specimens from the bone surface of the medial femoral condyle showed marked fibrosis with a significant foreign body reaction characterized by infiltration of giant cells and macrophages (Fig. ). Direct visualization of polymethyl methacrylate (PMMA) particles was impossible because PMMA in the bone cement was dissolved in the organic solvent used during the routine histological processing. However, a negative pattern of the surrounding foreign body giant cells was observed, with various sizes [, ]. Many tiny particles were assumed to be abraded zirconium dioxide, an X-ray contrast medium used as an ingredient in the Palacos R bone-cement []. These particles were mainly located within the cytoplasm of mononuclear macrophages. No evidence of infection or malignant lesion was found.\nAt the 2-year follow-up, the patient had a passive range of motion from 0° to 90°, with stability. TKA was maintained without osteolysis (Fig. b). He was satisfied with the clinical outcome after TKA conversion.
A 25-year-old young woman presented to the outpatient medicine department with the complaints of dry cough which was relentless for 1 month provisionally diagnosed as upper respiratory tract infection. On enquiry, the patient revealed that she had shortness of breath during cold seasons suggestive of bronchial asthma. She had no childhood illness indicating rheumatic heart disease. There was no significant past medical or surgical illness. She was married for two years but did not conceive yet. Her immunization history cannot be elicited as she could not remember them all. Her family members were in good health, and there was no worth mentioning illness that runs in the family. The patients' menstrual cycle was regular with an average menstrual flow. She was of a lower middle class socioeconomic status family. No family member had been suffering from any significant illness.\nGeneral examination revealed she was ill looking with mild tachypnea. Her heart rate was 90 beats per minute which was regular in rhythm; blood pressure was 80/60 mmHg; JVP was not raised. There was no anemia or edema. Her nasal mucosa was congested indicating upper airway infection.\nPrecordial examination showed normal apex beat in the left 5th intercostal space with little bit lateral displacement. There was palpable p2 with left parasternal heave but no palpable thrill. Intensity of the 1st heart sound was normal. The second heart sound was loud over the pulmonary area but not definitely splitted. There was an ejection systolic murmur over the pulmonary area with no radiation or respiratory variation.\nRespiratory system examination revealed a respiratory rate of 22 breaths per minute. There was no crepitation or rhonchi.\nAs our patient was being investigated for her illness, her chest X-ray revealed cardiomegaly with RV type apex, pulmonary conus was full and bulged, and right pulmonary artery was dilated (). ECG showed right bundle branch block with right axis deviation.\nSubsequently, her echocardiogram was done which depicted hugely dilated right atrium (RA) and right ventricle (RV) with restricted opening of the mitral valve ().\nMitral valve planimetry showed the mitral valve area (MVA) was 1.24 cm2 with thickened calcified mitral valves and mild subvalvular changes (). But the mean pressure gradient across the MV was 5 mmHg, and the MVA according to the pressure half time (PHT) method was 3.77 cm2. Left atrial (LA) diameter in M mode echo was 32.73 mm.\nThere was an atrial septal defect measuring 17.38 mm in the apical 4 chamber view (A4CV) () and 13.43 mm in the subcostal view. RV was dilated with a diameter of 55 to 60 mm at the base in the A4CV. Trabecula in RV was prominent. All rims of ASD were adequate (more than 5 mm).\nThe main pulmonary artery (PA) and right ventricular outflow tract (RVOT) just before the pulmonary valve (PV) were mildly dilated with 29 mm and 33 mm in diameter, respectively.\nColor Doppler echocardiogram showed a mosaic flow across the mitral valve (MV) towards the LV apex during LV diastole but no regurgitation during systole. There was a butterfly-like laminar flow across the intra-atrial septum (IAS) in subcostal and A4C views.\nContinuous wave Doppler across the tricuspid valve (TV) that revealed a maximum velocity through TV was 3.65 m/s. Hence, measured PASP according to the Bernoulli equation was 53.31 + 5 mm Hg = 58.31 mmHg.\nA thorough study with transesophageal echo and cardiac cath could not be done due to unavailability in our center. So the patient was properly counselled about her disease condition, and she was treated with rheumatic heart disease prophylaxis, low dose of diuretics along with treatment for her presenting ailment. Furthermore, she was referred to a tertiary level hospital where all the facilities for subsequent evaluation and treatment were available. Eventually, she was undergone mitral valve replacement with metallic prosthetic valve and patch closure of ASD at a higher center. The patient had severe mitral stenosis and ASD secundum; therefore, intervention is required to prevent rising pulmonary artery pressure by increased flow through the right-sided heart, and she had occasional shortness of breath as well which she thought might be due to bronchial asthma. Though interventional treatment of LS is an option nowadays, our patient had undergone surgical repair as experience regarding percutaneous treatment is inadequate in our centers.
A 14-year-old South Asian boy from rural Bengal (India), born of a second degree consanguineous marriage, with normal birth and development history, presented with abnormal brief jerky movements involving his trunk and limbs, with recurrent falls for 10 months. The jerks were neither stimulus sensitive nor present during sleep. No loss of consciousness was reported to occur with these jerky movements. Recurrent convulsions involving the left half of his body, without impairment of awareness, was present for 8 months. It was followed by insidious onset of mild weakness of the left half of his body for 7 months. Subsequently he suffered progressive decline in his general ability to maintain average daily activity independently for 5 months. He had to discontinue schooling because of his failing cognitive functions. For 2 months prior to presenting to us, he developed rapid dance-like movements involving all four limbs that flowed from one muscle to the other in a more or less continuous fashion. Occasionally it would become somewhat flinging particularly in his upper limbs. There was no history of similar illness in the family. He received all the scheduled vaccines as was stated by his mother.\nThe height of the boy was 150 cm and he did not have any dysmorphic facial features. A clinical examination revealed generalized choreiform movements as the most obvious finding. These movements intermittently became flinging in nature, resembling ballism. Generalized myoclonic jerks were seen embedded inside the flurry of chorea-ballism. When he was asked to protrude his tongue, besides motor impersistence, oromandibular dystonia was also found. He had severe dysarthria with apparently preserved comprehension. A limited cognitive assessment revealed reduced attention span as well as short-term memory impairment. Rigidity was obvious in all four limbs along with dystonia in both lower limbs. Weakness in the left half of his body along with brisk reflexes and extensor plantar on left side was also detected on motor system evaluation.\nRoutine laboratory parameters revealed impaired fasting glucose (120 mg/dl), mildly raised liver enzymes and creatine phosphokinase (CPK) level of 820 IU/L. Other blood and urine parameters were within normal limits. Screening investigation for Wilson’s disease, storage disorders, and metabolic disorders were all negative. A routine cerebrospinal fluid (CSF) study was unremarkable and anti-measles antibody was negative. Anti-nuclear antibody in blood was also negative. His serum level of lactate was 36 mg/dl (2–19 mg/dl) while CSF lactate was 42 mg/dl. Shortening of PR interval (0.10 second) was found in electrocardiography. Two-dimensional echocardiography was devoid of any abnormality. Serial brain imaging was done at different centers throughout the course of his illness. On studying his MRI brain images sequentially, a relapsing remitting pattern of lesions was detected. On T2/fluid-attenuated inversion recovery sequence (FLAIR) there were hyperintense lesions that mainly involved subcortical white matter in frontoparietal areas (Fig. ). An area of diffusion restriction was found in the right capsule-ganglionic region (Fig. ) that temporally coincided with the onset of left hemiconvulsions and hemiparesis. Magnetic resonance spectroscopy (MRS), done at our center, showed the presence of lactate peak in brain lesions. Brainstem auditory response revealed bilateral prolonged latency. Electromyography (EMG) showed short duration low-amplitude polyphasic motor unit action potential which was suggestive of myopathic pattern. Spike-wave discharges were observed arising from bilateral frontal areas on electroencephalography (Fig. ). A muscle biopsy, which was done from left vastus lateralis, revealed ragged red fibers (Fig. ), suggestive of mitochondrial failure and deposition of abnormal mitochondria below the plasma membrane of muscle fibers.\nAccording to the clinical criteria, MELAS syndrome was the most probable diagnosis in our case and we needed to confirm the diagnosis. As a facility for analysis of respiratory chain enzymes in the muscle was not available, we decided to search for underlying genetic abnormality in mtDNA. A polymerase chain reaction (PCR) method was employed for this purpose. Amplification of DNA in whole blood sample of our patient was performed for detection of mutations 3243A>G, 3271T>C, and 3251A>G in mitochondrial tRNA leucine 1(MT-TL1), by using appropriate wild type and mutant type specific primers for each and a common reverse primer for all. Genetic analysis result was as following: A>G point mutation at position 3251 of MT-TL1 gene of the mtDNA with heteroplasmy of 70%.\nAfter reaching the diagnosis, valproate was taken off and lamotrigine was introduced. He was put on co-enzyme Q supplement and haloperidol for abnormal movements. Six months into follow-up his seizures and abnormal movements were controlled significantly with slight improvement of cognitive abilities.
A 46-year-old man presented to the Department of Prosthodontics at Tehran University, School of Dentistry. His chief complaint was deficiency in speech and mastication. His past medical history revealed that he has been under treatment for undifferentiated nasopharengeal carcinoma of neck (NPC). Surgery included a local tumor resection and lymph node dissection. Radiotherapy was accomplished within 100 days postoperatively. He was irradiated with 60 Gray (Gy), at single doses of 2 Gy. Radiotherapy parameters, such as radiation dose and technique used, were recorded. The patient had no muscle tenderness or facial asymmetry and denied any symptoms of temporomandibular joint disorder or myofacial pain dysfunction. Functional manipulation did not show any sign of parafunction, but mandibular range of motion was not within normal limits and there was obvious limitation in mouth opening (30 mm). Intraoral palpation showed submucosal fibrosis like condition of oral mucosa. The saliva was thick and mucous and there was generalized caries and recurrent caries throughout dentition. Clinical examination revealed missing of mandibular posterior teeth except left first and second premolars. All the teeth except maxillary incisors and first right premolar had received endodontic treatment, though all were faulty treatments and needed retreatment. The maxillary left and right canines, first and second premolars and mandibular left second premolar had complete coverage crowns []. Marginal opening of all complete crowns and breakdown and leakage of these restorations were noted. Defective amalgam restorations with marginal breakdown and recurrent caries were present in teeth # 3, 14, and 15, and defective composite restorations with marginal leakage were present in teeth # 8, 9, and 10. The patient exhibited generalized mild gingivitis and minimal bleeding on probing. The patient was referred to the ENT department for evaluation. However, his medical consultation reported that he did not have any current signs or symptoms of NPC. Treatment plan options (fixed versus removable) were presented to the patient. However, considering the patient's desires, complete mouth rehabilitation with tooth and implant supported metal ceramic restorations was suggested. However, the first step was controlling caries. Therefore, diet evaluation was performed and he received daily fluoride treatment with a custom-made carrier and 0.4% stannous fluoride gel. Besides diet survey and diet modification, oral health instruction including informing the patient about disease etiology and oral hygiene instruction, evaluation of salivary flow, and prescribing xylitol products were carried out for the patient. Endodontic treatment and retreatment were done for all the remaining teeth except maxillary second left molar. This tooth was extracted because of limited mouth opening and therefore limited access to it []. The treatment plan included initial preparation and caries removal and complete mouth clinical crown lengthening surgical procedures to expose 1.5 to 2 mm of tooth structure circumferentially for adequate ferrule for resistance and retention forms and to facilitate esthetic gingival levels. Since there was no acceptable posterior support, the diagnostic phase involved a removable diagnostic overdenture. This phase also helped determining the length of teeth and evaluating phonetics and esthetics. After the removal of failing restorations and caries removal, primary impressions were made and esthetic clinical crown lengthening was designed on the diagnostic casts. Then a diagnostic wax up was done and a vacuum formed surgical template was fabricated as a reference for the prospective desired gingival levels during the crown lengthening surgical procedures. Full-thickness flaps with scalloped incisions were elevated to preserve interdental papillae []. Osteotomy was performed according to surgical templates to develop 2.0 mm of biological width and 1.0 mm of sulcular depth. Tooth #12 was extracted during crown lengthening procedure because of vertical root fracture. A centric relation record was obtained with record bases and occlusion rims using an interocclusal registration material (Virtual; IvoclarVivadent, Schaan, Liechtenstein). The casts were transferred into a semi-adjustable articulator (Dentatus ARH, Stockholm, Sweden) by the centric relation record. Prosthetic teeth (Major; Major Prodotti Dentari, Torino, Italy) were arranged for trial insertion. The overlay denture was processed and was adjusted on the remaining teeth []. A radiographic stent for implants was fabricated (lucitone clear resin) by duplicating the overlay denture and coating its teeth surface with barium sulfate. Then, tomographic radiographs were taken to check bone height and width and proper implant position []. Two 4.1 × 10 mm endosteal dental implants (Institut Straumann AG, Waldenburg, Switzerland) were placed in each posterior mandibular quadrant using the surgical guide. All implants were inserted under local anesthesia and were inserted primarily stable. Bulky flaps were thinned in the same session. The following 5 days, 250 mg of cefuroxim (Elobacts, Bad Oldeslohe, Cascan, Germany) was given twice orally and patients rinsed their mouth twice daily with 3% hydrogen peroxide; no specific diet was followed. After 5 weeks, the stability was tested with Osstell (Integration Diagnostics, Gothenburg, Sweden). The teeth were prepared and custom post patterns were fabricated according to a vacuum silicon guide made over overlay dentures. After finalizing cast post in the all remaining teeth, impressions were made of maxillary and mandibular arches. This impression in mandible not only record prepared teeth, but also was an implant level impression. For transferring the exact maxillo mandibular relationship established with overlay dentures to the final fixed restoration, the anterior section of the overlays were removed so that Lucia jig could be made between incisors at the existing vertical dimension of occlusion (VDO). Then, the centric relation was made between posterior maxillary prepared teeth and mandibular record base along with cross mounting with cast made of over impressions of overlay dentures. A custom incisal guide table was made from GC pattern resin (GC America) while overlay dentures were on the articulator. Waxing was done according to the customized guide table on die casts and converted to heat-processed acrylic temporary restorations. The diagnostic interim restorations were modified until the patient was satisfied with phonetics, esthetics, and function. During the evaluation period, the patient's anterior and posterior speaking space and function was assessed. Furthermore, these restorations were used for progressive loading of implants. Acrylic restorations on the implants first were made without occlusal contact, with occlusal contact on the abutments 4 weeks later, and full occlusal contact on the abutments and pontic after 8 weeks. The interim restorations were functioned for about 4 months to assess the patient's adaptation to the proposed new vertical dimension of occlusion and the new clinical crown lengths []. Subsequently, the gingival tissue around the tooth preparations had matured and definitive impressions were made with vinyl polysiloxane impression material (Affinis; Coltène/Whaledent, Inc, Cuyahoga Falls, Ohio). The maxillary and mandibular anterior teeth were restored with definitive restorations. Centric occlusion, even protrusive contacts, and canine guidance were established in the definitive anterior restoration. The complete crowns and fixed partial dentures (FPD) were prepared and completed. Crowns were cast with a gold alloy. After the fit of the cast crowns was verified intraorally, metal-ceramic restorations were completed (Omega 900; VITA Zahnfabrik, Bad Sackingen, Germany). All crowns were cemented with temporary cement. A heat processed hard occlusal guard (Lucitone Clear, Dentsply, York, PA, USA) was delivered to evaluate the patient's tolerance of new VDO and providing the patient with a mutually protected occlusion []. Following the definitive cementation of all restorations, neutral pH sodium fluoride (Previ Dent 1.1% Brush-On Gel; Colgate Oral Pharmaceuticals, New York, NY) was prescribed to prevent secondary decay under the restorations. The patient was advised to return every 6 months for a recall evaluation. The patient was satisfied with the improved esthetics and function of his teeth. The patient has been followed for 8 months since the completion of his treatment and remains free of any complications. Additional instruction was given on the use of floss threaders and superfloss under the FPD.

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