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pmc-6632504-1 | A 29-year-old female (T.W.), a native French speaker, suffered from global aphasia and right hemiplegia following a left hemispheric stroke (NIHS 18/42), due to a dissection of the left internal carotid artery. The stroke involved the left cortico–subcortical frontotemporoparietal areas. Lesion included 44 – Broca's, 22 – Wernicke's, 4 – motor cortex areas, insular cortex, basal ganglia, the most medial and rostral portion of the subcallosal fasciculus, the periventricular white matter near the body of the lateral ventricle, deep to the lower motor/sensory cortex area for the mouth and disrupted left arcuate fasciculus (see ).
T.W. was a governess by profession, right-handed, and an active smoker. For 9 to 12 months following the stroke, she was practically mute and could not pronounce a single word. On first language examination two weeks after the stroke, she was diagnosed with global aphasia with AOS, buccofacial apraxia and oral suppression, agraphia, oral and written comprehension impairment, and executive dysfunction. She underwent intensive inpatient neurorehabilitation for four months then was discharged with ambulatory speech therapy, physiotherapy, and ergotherapy. She started to walk in the city (with a stick) accompanied by her family and her boyfriend; she also resumed listening to music and watching movies. However, the severe AOS remained. Nine months after the stroke, she was still nearly mute, with no oral functional output, only the capacity to repeat some isolated phonemes (/a/, /ou/, /m/, /f/, /n) and syllables (mamama, nanana, moumoumou), and could whisper “no”. She had necessitated an explicit control for every phoneme output. However, her written production improved and she started to write words and small sentences with her left hand. T.W. communicated essentially by gestures during the first months. At home, she began to use some written support to communicate, either with a pencil in her left hand or with a speech program named I-Word Q, which allowed her to write. She could also use a selected written vocabulary on her iPad. Nine months after the stroke, despite some residual difficulties in finding written words, she could take advantage of her written communication ability for her daily messages, particularly with smartphone messages. Language and neuropsychological performances of T.W. at the different postonset times and steps of speech rehabilitation are demonstrated in . The following tests were acquired: (1) for language evaluation – Montréal-Toulouse 86 (MT-86) []; (2) for description of a picture – Nicholas & Brookshire (1993) []; (3) for writing – Croisiles battery []; (4) for associative gnosia – Columbia's b Test [], (5) for memory – 5 mots de Dubois [], (6) for executive functions – BREF (Batterie rapide d'evaluation frontale de Dubois ‘The Frontal Assessment Battery') []. Total score = 18; cut-off = 15. Oral expression was still very severely impaired. She could repeat 10/18 isolated phonemes, and 9/19 isolated syllables. Word and nonwords repetition was not possible due to AOS. She started to repeat some disyllabic trained words although this did not appear on the formal evaluation. Oral naming was still impossible due to AOS and inability to initiate a phonation. Reading of words and nonwords was still impossible (, 2nd Column). The written expression had much better recovered at 9 months after stroke. Particularly, written naming performance improved from 60/144 at 3 months to 90/144(62%) at 9 months. There was no significant frequency effect (high-frequency words: 49/72; low-frequency words: 41/72, chi2 is 1.89, p <.17), but a length effect was present (46/60 for 1 syllable words, 39/60 for 2 syllables words, 5/24 for 3 syllables words, chi2=23, p < 0.001). In writing to dictation, she was able to write 64% of the presented items with neither regularity effect, nor significant frequency effect (Croisile's battery: 9/10 high-frequency words, 5/9 medium frequency words, and 4/9 low-frequency words, chi2 = 4.7, p <.094). Concerning the error types in written production, she could write the first syllable, but could not always complete the word. Particularly, she helped herself with the vocalisation of some isolated syllables, but could not always vocalise or respect the order of the syllables in the word. There were mainly literal paragraphs (omission, substitution of letters) and nonphonologically plausible errors (examples: “canic” for “canary”; “abomas” for “abdomen”) unless some random words were correctly written (e.g., “oignon”, “bapteme”). At the receptive and semantic levels, word comprehension was relatively preserved in the oral (8 correct word to image association /9) and the written (4/5) domain. T.W. partially preserved her ability to correctly classify in the semantic field 86% of the presented words in an intracategorical designation test. The score at the pyramid and palm tree test visual version had been 47/52 (lower limit) 3 months after stroke.
Her performances in the written and the oral domain at 9 months after stroke suggested preserved input (preserved writing to dictation) and semantic processing (satisfactory performance in oral and written comprehension). The results at our images designation test and the image pyramid and palm tree test also indicated that the general domain semantic system is preserved. The AOS was present in all oral outputs (naming, reading, repetition) for both words and nonwords in the oral domain sparing only isolated phonemes. Written expression was partially spared, but showed some nonphonological errors affecting words and nonwords, with a length effect but no consistent regularity and frequency. The whole pattern pointed to a locus of impairment mostly at the postlexical impairment, at the phonetic-phonological level in the oral domain, and a partially preserved writing ability with some milder graphemic buffer type of dysfunction. The difficulties in sentences comprehension were possibly syntactic.
T.W.'s initial global aphasia evolved at 9 months in a severe Broca's aphasia with severe postlexical oral impairment at the phonetic-phonological level leading to massive AOS. Interestingly, her writing was much better preserved despite moderate impairment at the graphemic buffer level. Some syntactic difficulties were also present. Main types of aphasia in general are presented in . Aphasia evolvement in T.W. is presented in . |
pmc-6633699-1 | We report a case of a 21-year-old Caucasian male with a penetrating cardiac injury due to stabbing. A rapid medical response team staffed by an anesthesiologist was dispatched and found the patient unresponsive and pale with two stab wounds above the left papilla, agonal gasps, no thoracic excursions, left hemithorax seeming elevated compared to the right side; barely palpable carotid pulse rate of approximately 100; and no major external bleeding. The initial assessment was a periarrest with suspicion of left tension-pneumothorax. Urgent left mini-thoracotomy was established via the 5th intercostal space resulting in spontaneous respiration with lung expanding while coughing and improved facial color with a palpable carotid pulse of above 120, and within minutes he regained consciousness. Reassessment raised suspicion of tamponade due to hypotension 85/60 mmHg and tachycardia; a FAST ultrasound from small portable ultrasound system confirmed the initial diagnosis with pericardial fluid, compressing right atrium and affecting the filling of the right ventricle. Closest regional hospital was a few minutes away; the nearest trauma center with thoracic surgical support was approximately 1 hour/100 km away. Due to the instability of the patient, he was transported to the nearby regional hospital without thoracic surgery competence capability. Patient was not intubated due to (a) risk of increasing thoracic pressure and further deteriorating of the patient and (b) short transport time. Upon arrival in the ER the clinical status of the patient had further deteriorated as he was unresponsive, tachycardic, and hypotensive with dilated neck veins. Clamshell thoracotomy was considered but instead an urgent ultrasound-guided pericardiocentesis was performed with insertion of pig-tail catheter. After initial removal of ≈ 100 mL of blood, the clinical situation improved and the patient was intubated. Clinical examination revealed no other injuries but continuous removal of blood from the pericardial space was needed in order to maintain mean arterial pressure above 50 mmHg. Due to lack of thoracic surgical expertise and since the hemorrhage could be controlled, the patient was transferred to the trauma center 100 km away. During transport, the patient was continuously resuscitated with plasma and packed red blood cells, while blood was intermittently removed from the pericardium in order to keep a mean arterial pressure around 50 mmHg. A total of 750 mL was removed in total during the hour long transport. Upon arrival at the trauma center patient was immediately prepped for surgery and a median sternotomy was performed. A 2 cm stab wound to the left ventricle was discovered (blood jetting), cardiorrhaphy (suturing the heart muscle) was performed, and hemostasis was secured. The heart and pericardial sack were inspected and no other pathologies were found. No further interventions were performed and the sternotomy was closed. Trauma CT revealed no other injuries. The patient's postoperative course was uneventful, and the patient was discharged 8 days after the incident. |
pmc-6633869-1 | In September 2018, a 62-year-old man was admitted to our Internal Medicine department with severe pain and a varicelliform skin eruption in the lower left limb which, appeared at least 20 days earlier.
He was affected by hypothyroidism and chronic lymphatic leukemia (stage II according to RAI and Binet) and was undergoing in outpatient chemotherapy treatment.
He complained of intense acute pain level 10 on the Numeric Rating Scale (NRS: ranging from 0: no pain to 10: the most intense pain ever experienced) along the entire length of the left lumbar root ganglia L5-S1. He presented vesicular lesions alternated with itchy scabs across the left gluteus muscle, with more intense lesions in the lower third and the rear of thigh, the popliteal fossa, and the back of leg up to the ankle. The patient also reported poor quality sleep for at least 15 days due to the continuous pain. Upon clinical assessment HZ with acute HN was diagnosed, Oral Antiviral, Pregabalin (75 mg x 2/day), Oxycodone/naloxone (10 mg/5 mg x2/day), and Paracetamol (1 g as needed) were prescribed.
After 5 days of hospitalisation and, almost, 2 weeks of therapy, the patient continued to reported NRS=10; therefore the attending physician requested an assessment from our department of Pain Medicine. After obtaining informed consent, the anaesthesiologist performed an epidural antalgic block at L3-L4 level with levobupivacaine 0.25% (4 ml), resulting in slight relief (NRS=8) for the next 6 hours only.
After 5 days of persistent level 8-9 pain on NRS with associated poor sleep quality, a new evaluation was requested. The patient also developed nausea, dizziness, and mental confusion as a result of drug therapy. After obtaining informed consent, we decided to perform a continuous US-SNB with subgluteus approach because the vesicular lesions had since dried up.
We decided to place the catheter on the sciatic nerve, at the subgluteal level, because the NRS 8-9 pain was more intense in the lower third of the thigh, on the popliteal region, and in the back of the leg.
With the patient in a semiprone position with the block limb uppermost, after skin disinfection with chlorhexidine 2%, we placed a low frequency convex probe, 2- 5 MHz over the subgluteal region in a transverse plan, between the greater trocantere, and the ischial tuberositis. We initially performed a systematic anatomical survey of structures from superficial to deep and medial to lateral; we identified the gluteus maximus muscle (GMm), the quadratus femoris muscles (QFm), the greater trochanter (GT) laterally, and the ischial tuberosity (IT) medially and we recognized the sciatic nerve as a hyperechoic and lip shaped oval structure inside a space lined by a hyperechoic margin formed by the surrounding muscles. Under aseptic precaution, we inserted a 18 G Tuohy needle (Kit Sonolong Curl Echo, Pajunk, ) using in the plane approach, from the lateral side to the medial part of the thigh, and we pushed the needle tip forward reaching the perineural space close to the sciatic nerve. Final needle position was confirmed by injecting 5 ml of saline solution and observing distention of the perineural space. A 20 G, multihole catheter with 6 lateral holes was then inserted under real time ultrasound guidance and advanced 3 cm over the needle tip into the perineural space. The needle was then withdrawn and a real time assessment of saline solution spread confirmed optimal catheter positioning.
After securing the catheter with Tegaderm transparent dressing, we administered a bolus of 10 ml lidocaine 2%, resulting in rapid pain relief at levels 0-1 on NRS associated with a motor block of the left leg and a foot extension deficit. Consequently, we started a PIB infusion of levobupivacaine 0.125%, 6 ml every 2 hours with possible additional boluses controlled by the patient (additional bolus 6 ml, one hour after PIB) using a CADD-Solis pump through the catheter.
After six hours, pain intensity was 0-2 on the NRS, nine hours after the procedure, andNRS was evaluated as 0 and the patient was able to sleep through the night. PIB were administered for 36 hours and then suspended because the pain was totally controlled, but the catheter was left in place. Drug therapy with pregabalin 75 mg x 2/day only was resumed.
Nine days after the procedure the patient was discharged with NRS=0, no motor block, a good sleep quality, and a significant reduction in pharmacological side effects.
At the one week, 1 month, 3 months, and 6 months of follow-up the patient was satisfied, pain-free, and enjoying good quality sleep. At the last check it was decided to lower and suspend pregabalin. |
pmc-6633872-1 | A previously healthy, athletic 16-year-old boy (body surface area 1.82 mm2) was transferred to our cardiac institution with a 9-day history of a sustained high fever complicated by diarrhea and abdominal pain. He had no history of allergic disease such as bronchial asthma, or known drug allergies. He had received oral cefdinir for a few days for suspected bacterial enterocolitis two weeks previously. His symptoms had been resistant to the antibiotics and antipyretic medications given in the prior tertiary center. Upon arrival at our center, he exhibited cardiogenic shock with a body temperature of 40.5°, heart rate 107 beats/min (irregular), systolic pressure 90, and diastolic pressure ranging from 30 to 75 mmHg (measured by oscillometric method, unstable), and respiratory rate 48/min. He was mostly conscious but occasionally stuporous. No jugular distension, limb edema, or skin rash was observed. His peripheral body was cold despite his body trunk being warm. On auscultation, he had regularly irregular muffled heart sounds without a significant murmur, and some rales bibasally. The electrocardiogram revealed tachycardia, sinus rhythm, right axis deviation, nonspecific ST-T change, and clockwise rotation (). His chest radiograph showed prominent pulmonary edema, accumulation of pleural effusion, and an enlarged cardiac shadow (). Echocardiography showed LV systolic dysfunction—LV end-diastolic volume (LVEDV) and end-systolic volume (LVESV) = 130/76 mL; LV ejection fraction (LVEF) 42%—a mildly thickened and echogenic LV wall, and a modest amount of pericardial effusion, without visible intraventricular thrombus (). Blood tests showed respiratory alkalosis, high concentration of markers of cardiac injury (troponin I 1843.6 pg/mL [upper limit of normal: 26.2 pg/mL]), heart failure (plasma brain natriuretic peptide 2671.1 pg/mL [18.4 pg/mL]), evidence of an inflammatory response (white blood cell count 8.5 × 103/μL with neutrophils 93% and eosinophils 1.5% and serum C-reactive protein 29 mg/dL), mild hepatic failure (aspartate aminotransferase 145 U/L [38 U/L] and alanine aminotransferase 100 U/L [44 U/L]), and almost unimpaired renal function (blood urea nitrogen 26 mg/dL [20 mg/dL] and creatinine 1.2 mg/dL [1.08 mg/dL]). The myeloperoxidase-anti-neutrophil cytoplasmic antibody was below the detectable range.
Despite inotropic support and fluid resuscitation, his systolic blood pressure suddenly fell to 80 mmHg in the middle of the initial evaluation. Based on the clinical diagnosis of cardiogenic shock, an Impella 2.5 was immediately inserted into the right femoral artery via a 12-Fr sheath, followed by a right-ventricular (RV) endomyocardial biopsy (EMB) via the right internal jugular. Intact coronary arteries were subsequently confirmed by coronary angiography. Chest radiography after Impella placement showed alleviated pulmonary edema () together with elevation of the mean arterial pressure from 51 to 72 mmHg, although the LVEF was decreased to 27% (; Supplementary ). Because of his high sustained fever, fluid resuscitation with extracellular fluid and blood products (approximately 6 L/day) was required to maintain the mean arterial pressure >55 mmHg. However, the mean pulmonary wedge pressure was mildly elevated (10–13 mmHg) without the patient displaying radiographic pulmonary edema.
Within 48 h after admission, eosinophilic myocarditis was diagnosed based on the histological findings (). Immunosuppressive therapy consisting of methylprednisolone 1000 mg/day for 3 days followed by prednisolone 1 mg/kg/day and azathioprine 2 mg/kg/day was commenced, which improved his LV systolic function in the short term (LVEF 47% by day 6) and decreased the body temperature, leading to hemodynamic stabilization. The doses of inotropes required to maintain stable hemodynamics during Impella use were decreased by day 4 (maximum dose of dobutamine was 2.2 μg/kg/min and of dopamine 1.5 μg/kg/min on days 1 and 2).
He was gradually, day by day, weaned from the Impella, decreasing from the P8 to P2 level without showing marked end-organ failure. The Impella was surgically removed on day 7, with his postremoval blood pressure at 120/70 mmHg and heart rate at 65 beats/min on with minimal inotropic support (dobutamine and dopamine, 3.0 μg/kg/min each) to avoid sudden hemodynamic deterioration immediately after removal of the MCS. He was extubated on day 8, followed by initiation of antiheart failure medications (e.g., angiotensin-converting-enzyme inhibitor and β-blocking agent) to prevent further remodeling. The follow-up EMB, performed 2 weeks after his admission, revealed improved infiltration of eosinophils and lymphocytes and some degree of fibrosis (Supplementary ). Azathioprine was tapered off, whereas prednisolone dose was gradually tapered to 30 mg/day. He was discharged from hospital 6 weeks after the admission without a major complication ().
Thallium-201 and iodine (I)-123 β-methyl-p-iodophenylpentadecanoic acid (BMIPP) dual-tracer myocardial scintigraphy 3 weeks after admission showed a patchy deficit of perfusion at the anterolateral wall and a discordantly larger deficit of fatty acid metabolism (perfusion-metabolism mismatch), suggesting regional myocardial damage with potential reversibility ().
Cardiac 1.5-T magnetic resonance imaging (CMR) 4 weeks after admission showed no high-intensity areas on T2-weighted imaging or late-gadolinium enhancement (LGE), but prolonged native T1 mapping at papillary muscle level, indicating myocardial edema (; Supplementary ).
At discharge from the hospital, follow-up chest radiography revealed diminishing cardiomegaly with no pulmonary congestion (). At the same time echocardiography showed recovery of contractility with LVEF 60% (). The patient was weaned off steroid therapy 5 months after the onset of his myocarditis and showed no evidence of recurrence in the subsequent 7 months. |
pmc-6633875-1 | A 54-year-old Caucasian female with a history of cholecystectomy, obesity, and hypertension presented to the Emergency Department with acute onset right upper abdominal pain. Basic laboratories including liver function tests, complete blood count, and basic metabolic panel were unrevealing.
Outpatient workup revealed normal AFP, CA19-9, and CEA levels and negative hepatitis serologies. Ultrasound demonstrated a 2.3 cm, low-density mass in the left liver lobe. MRI showed a 3.4 cm mass with arterial phase enhancement and contrast washout in delayed sequences (). By imaging, a diagnosis of HCC was suspected. However, as she did not have cirrhosis or other risk factors for HCC, she underwent percutaneous liver biopsy and was diagnosed with epithelioid AML.
The patient underwent laparoscopic hand-assisted left lateral hepatic segmentectomy. Our surgical approach included three trocar sites and a small midline hand port. Resection was completed using a combination of Ligasure and Cavitron Ultrasonic Surgical Aspirator (CUSA). One Jackson-Pratt drain was left at the cut edge of the liver.
Pathologic gross examination revealed a 3.0 x 2.5 x 2.0 cm mass, well-demarcated from adjacent hepatic parenchyma (). On microscopy, an admixture of haphazardly arranged mature adipocytes, smooth muscle fascicles, and thick-walled vessels was seen, which was positive for HMB45, MelanA, MITF, and smooth muscle actin and negative for pan-cytokeratin, HepPar1, and S100, confirming the diagnosis (). She was discharged after an uneventful hospital course.
The patient was seen in follow-up one year after her tumor resection. She was doing well and had fully returned to her presurgical level of function. 4-phase liver CT done at that time demonstrated no tumor recurrence or evidence of abdominal metastasis. LFTs were all within normal range. |
pmc-6633879-1 | A 59-year-old male presented with complaint of persistent nonproductive cough for 2 months. He had past surgical history of appendectomy. He was a current smoker with smoking history of half to one pack per day since joining high school. His family history included prostate cancer in the father.
Vitals were within normal limits. Physical examination was normal. Chest x-ray posteroanterior and lateral view showed ill-defined mass-like region of airspace opacification within the right hilar and perihilar region. CT scan of the chest without contrast revealed right hilar mass measuring at least 7 to 8 cm in diameter extending into the superior segment of the right lower lobe, encircling the right mainstem bronchus and extending into the subcarinal and precarinal region. Extensive mediastinal, precarinal, and subcarinal lymphadenopathy was also present. These findings raised concern for primary lung cancer. PET/CT skull to thigh with oral and intravenous contrast showed FDG avid mass extending from the right hilum into the right lower lobe measuring approximately 6.8 cm with SUV maximum of 11.6. It also showed FDG avid mediastinal nodes with SUV maximum of 11.9, which was consistent with malignancy. There was no disease reported outside of the thorax. Subsequently, he underwent right-sided VATS and mediastinoscopy with several biopsy samples from mediastinal lymph nodes. The pathology showed sheets of round malignant cells with sparse cytoplasm. The nucleus consisted of fine granular chromatin with indistinct nucleoli. Immunohistochemistry studies showed expression of TTF1 (weak), CAM5.2, CD56, and synaptophysin. Ki67 showed >97% positive staining. The findings were consistent with small-cell lung cancer. Magnetic resonance imaging (MRI) of brain showed no evidence of metastatic disease.
The patient was started on chemotherapy with cisplatin and etoposide with thoracic radiation. He received a total of 4 cycles of chemotherapy and 21 sessions of thoracic radiation. PET/CT was obtained to assess response to the treatment. It showed decrease in size and FDG uptake of primary right lobe mass. However, it showed new hypermetabolic right apical lung lesion and bilateral supraclavicular lymph nodes consistent with disease progression. He was therefore started on systemic immunotherapy consisting of nivolumab 240 mg fixed dose every 2 weeks and ipilimumab 1 mg/kg every 6 weeks.
After 4 months of starting immunotherapy, the patient complained of extreme fatigue and loss of appetite of one-week duration. Thyroid function test (TFT) results are shown in . The findings were consistent with hypothyroidism. He was started on levothyroxine 75 mcg. On follow-up visit after 1 week of starting levothyroxine, he continued to have fatigue. Also on the clinic visit, he was hypotensive with recorded blood pressure (BP) of 98/68 mmHg. At this point, there was a concern for pituitary or adrenal insufficiency. Laboratory work-up is shown in . The findings were consistent with primary adrenal insufficiency. He was started on oral hydrocortisone 20 mg in the morning and 10 mg in the evening. After one week of starting hydrocortisone, the patient reported improvement in fatigue and appetite. BP had normalized. Interval CT chest showed stable disease from previous CT scan.
After 8 weeks of starting hydrocortisone, the patient reported new weakness. He complained of difficulty with walking and arm weakness. He could not throw a ball to his dog, which he was able to do previously. He denied double vision, ptosis, dyspnea, chewing, or swallowing difficulties. He denied any bladder or bowel problems. On neurologic examination, CN 2-12 were grossly normal. He was oriented to person, place, and time. Recent and remote memory was normal. Language was fluent with normal comprehension and repetition. Fund of knowledge was normal. On motor exam, weakness of hip flexors bilaterally was noted. Muscle tone, bulk, and strength in other muscle groups were normal. Sensation was normal. Upper and lower extremity reflexes were absent bilaterally. There was facilitation of reflexes with exercise. Finger to nose was normal. Gait was slightly waddling.
Repeat TFT and cortisol level was within normal limits on levothyroxine and hydrocortisone supplementation, respectively. Creatine phosphokinase (CPK) was normal. Acetylcholine receptor binding antibody was normal. Paraneoplastic panel showed elevated P/Q type voltage gated calcium channel antibodies. Brief nerve conduction study showed facilitation of the right medial nerve compound muscle action potential (CMAP) with exercise. MRI brain showed no pathologic intracranial enhancement, mass effect, or recent infarct. A diagnosis of Lambert-Eaton Myasthenic Syndrome was made. Immunotherapy was discontinued. He was started on pyridostigmine 60 mg three times a day. However, intolerable diarrhea ensued and pyridostigmine was discontinued. He was transitioned to prednisone 60 mg daily with taper. The patient noted improvement in leg and arm weakness with prednisone. However, repeat PET scan showed increase in size and activity of left cervical lymphadenopathy and multiple new hypermetabolic hepatic lesions measuring up to 2.5 cm compatible with metastasis. He was initiated on palliation chemotherapy with weekly single agent taxol. |
pmc-6633922-1 | A 66-year-old male presented with few weeks of cough and shortness of breath. He had to lay on his side or prop himself up to breathe more comfortably at night. A week earlier, at an ED visit, he was diagnosed with pneumonia based on CT angiogram of the chest without contrast that showed bilateral pleural effusion and bilateral pulmonary infiltrates (). Levofloxacin oral therapy was followed by some improvement but he felt worse again. There is no significant past medical or trauma history other than right elbow trauma and right knee endoscopic surgery. He denied tobacco or drug use but endorsed occasional alcohol use. Lungs exam revealed only scant rales in the right lower lobe. He was afebrile, normotensive, and hypoxic with SpO2 of 91% on room air. Lab was only significant for elevated alkaline phosphatase 476, AST 46, and pro-BNP 147. EKG showed normal sinus rhythm. Ceftriaxone and azithromycin were started for pneumonia which failed outpatient therapy.
The CT-guided placement of bilateral chest tube drained 1160 cc of creamy yellow fluid on the right and 1200 cc of creamy yellow fluid on the left. Pleural fluid LDH was 226 units/L, triglycerides were 85 mg/dL, total protein was 4.3 gm/dL, and cholesterol was 67 mg/dL. Total serum protein was 7.8 gm/dL. The fluid was diagnosed as exudative in nature (Light's criteria, pleural fluid protein/serum protein >0.5). The cytopathology evaluation of the pleural fluid was negative.
Antibiotics were stopped due to lack of growth in cultures. A few days after the right-sided chest tube was removed, a chest x-ray showed a recurrent right-sided pleural effusion.
Repeated CT thorax without contrast showed a moderate right-sided pleural effusion with right lower lobe atelectasis (). A repeat left pleural fluid analysis showed triglycerides of 1066 mg/dl, LDH of 363 units/L, total protein of 3.6 gm/dL, and cholesterol of 53 mg/dL, highly suggestive of chylothorax. A chest tube was placed again on the right side and octreotide and somatostatin were begun. Lymphocytic scintigraphy () showed no activity transmitted in the thoracic duct beyond the pelvis suggestive of a central obstruction. Numerous enlarged nodes were also seen in the inguinal and iliac areas, concerning for lymphoma.
CT Chest/abdomen/pelvis showed bilateral ground-glass opacities within the lungs and possible bony metastasis (). A whole-body bone scan showed multiple bony metastatic lesions throughout the skeleton ().
IR guided bone biopsy suggested upper GI or pancreaticobiliary cancer (patient's bone marrow biopsy showed poorly differentiated metastatic carcinoma cells but could not completely pinpoint to the site of origin but suggested pancreaticobiliary or upper gastrointestinal cancer). Other work-ups including peripheral blood flow cytometry, SPEP, IFE, and free light chain assay, TSH/free T4, serum quantiferon, ANA, CEA, and serum VEGF all were negative, while CA 19-9 was 402 units/mL.
We found that the patient had a deep vein thrombosis of the left subclavian/brachiocephalic vein, which most likely caused the bilateral chylothorax and was confirmed by CTA and upper extremity Doppler ultrasound ().
Intravenous heparin was started, followed by Catheter Associated Thrombolysis (EKOS) of left subclavian vein. The heparin drip then switched to apixaban. After the patient's thrombolysis of brachial/subclavian left upper extremity vein was done, his chest tube output started to decrease. Left-sided chest tube was removed four days after the thrombolysis followed by right-sided chest tube seven days after the thrombolysis right before the patient was discharged for outpatient oncology care. |
pmc-6633968-1 | A 30-year-old man presented to our hospital complaining of a six-month history of progressive neck swelling and sore throat. He had no pertinent past medical history. Physical examination revealed a 4-cm, hard mass in the right anterior neck. Results of thyroid functional tests, such as serum thyroxine (T4), free triiodothyronine (T3), and thyroid stimulating hormone (TSH), were within normal limits. Other laboratory findings were also unremarkable.
Computed tomography (CT) demonstrated a heterogeneous mass at the level of the hyoid bone, 35 × 47 × 38 mm in size, expanding the cortical bone of the hyoid (). The mass had a central solid component with calcification and a marginal cystic component. Left submental lymphadenopathy was also seen. The normal thyroid gland was noted at the normal paratracheal region. On magnetic resonance imaging (MRI), the solid component appeared hypointense on T1-weighted images and slightly hypointense on T2-weighted images, with marked enhancement on contrast-enhanced fat-suppressed T1-weighted images (). Cystic components were also noted as T1 hypointensities and T2 hyperintensities.
Fine needle aspiration of the mass showed papillary carcinoma. Given the imaging findings of expanded cortical bone in the hyoid and FNA findings, we suspected primary papillary carcinoma originating from ectopic thyroid gland tissue associated with a thyroglossal duct remnant in the hyoid bone.
The patient underwent tumor resection and left neck dissection of level I-III. Right neck dissection was not performed, because only left submental lymph node metastasis was suspected from imaging. We usually do not perform preventive neck dissection for thyroid papillary carcinoma in our hospital. The resected specimen showed an ill-defined, whitish mass with calcification measuring approximately 3 cm along the longest axis. Histopathological examination showed papillary adenocarcinoma with calcification (). Adjacent tissue invasion such as fibrous stroma, bone, and stratified muscles was seen, but surgical margins were negative. Thyroid follicles were seen around the malignant component. Four lymph nodes (1 peritumoral and 3 left submental lymph nodes) were positive, out of 13 resected lymph nodes. Finally, the patient was diagnosed with papillary carcinoma originating from ectopic thyroid gland in the hyoid bone with multiple lymph node metastases.
Additional thyroid suppression therapy was administered after surgery. The addition of total thyroidectomy and radioactive iodine ablation was not performed to preserve thyroid function because the surgical margins were negative and cancer in the thyroid gland was not suspected from imaging. The patient has been followed up for six months without local recurrence or metastasis. |
pmc-6634065-1 | A 38-year-old Argentinean female presented with slowly progressive unsteadiness noticed first at age 23. She reported pronounced instability and gait problems as disease progressed. Her gait problems were described as short steps, with starting hesitation, fear of falling, and needing to hold from walls to avoid falling. She also reported several falls, dizziness, neck pain, and constipation. Symptoms progressed over the years affecting her mobility and functionality. She currently needs assistance for moving around. No relevant medical, family, or psychosocial history was reported. No past interventions were reported.
On neurological examination (), she presented dysarthria, interrupted slow horizontal and vertical eye movements, and slow horizontal saccades. She manifested spasticity and hyperreflexia more pronounced in her lower extremities. Mild cervical dystonia with bradykinesia was also observed. She showed ataxic symptoms more pronounced on her left upper extremity. Gait was spastic and no cognitive abnormalities were observed.
Brain MRI with and without contrast was unremarkable. Due to the presence of a slowly progressive adult onset spastic-ataxia syndrome, associated with other neurological abnormalities, and facing the challenge of poor financial access, we decided to optimize our resources studying the patient using whole-exome sequencing (CentoDX™, Centogene AG, Germany). The analysis identified two variants in CAPN1 (MIM:114220) considered as probably pathogenic Class 2, according to the American College of Medical Genetics and Genomics criteria. She was heterozygous for a splicing mutation in intron 16 (c.1729+1G>A) and a second splicing mutation in intron 12 (c.1353+2T>C). Carrier testing in the parents was not performed. Due to the strong phenotypic overlap between the symptoms and previously reported cases, we consider the detected variants as pathogenic of SPG76. |
pmc-6634271-1 | A 24-year-old Hispanic male with recently diagnosed desmoplastic round cell tumor with innumerable metastases, presented with complaints of significant weakness and fatigue after receiving one cycle of vincristine, adriamycin, and ifosfamide (VAI). Eleven days after his first cycle of chemotherapy, he presented to the emergency department with complaints of subjective fever, weakness, and worsening fatigue. He was found to be hypotensive with pancytopenia and was subsequently admitted to the intensive care unit (ICU) for further management. Physical examination was notable for cachexia and rigid hepatomegaly. Both blood cultures were positive for Streptococcus dysgalactiae. CT scan of the abdomen and pelvis with IV contrast revealed impressive metastatic infiltration into the liver (Figure ). The patient's condition rapidly improved with the administration of intravenous fluids and vancomycin. Filgrastim was added to address the neutropenia. On day two of his hospital course, he developed severe hypoglycemia. Initial treatment included boluses of 50% dextrose solution; after two administrations the patient remained persistently hypoglycemic. Frequent small meals with high sugar content provided negligible benefit. Management was escalated to a continuous infusion of 5% dextrose solution and ultimately to 10% dextrose before adequate control of blood glucose was achieved. With no clear cause of hypoglycemia, the tumor was suspected as the etiology. Within 48 hours of intensive correction and monitoring, his blood glucose was stabilized. To differentiate between islet cell tumor-induced hypoglycemia and non-islet cell tumor-induced hypoglycemia (NICTH), the preliminary tests ordered were insulin and C-peptide levels. With a normal C-peptide level and low insulin level, further hormonal causes were explored. Cortisol levels were elevated, likely due to systemic stress response to prior infection and hypoglycemia. Thyroid stimulating hormone (TSH) and thyroxine (T4), were within their normal reference ranges. Growth hormone was elevated (Table ). The possibility of an auto-immune paraneoplastic process was investigated by searching for insulin antibodies; the results were negative. Insulin-like growth factors I and II (IGF-I, IGF-II) are recognized mediators of NICTH, specifically IGF-II []. These polypeptides share structural similarity to pro-insulin revealing, at least in part, the physiologic basis of their effect on serum blood glucose. The ratio of IGF-II to IGF I is used as a diagnostic value in NICTH. A ratio of 10 or greater is the conventional pathognomonic value, 3 is considered the standard baseline [-]. IGF-II levels were pointedly elevated in comparison to IGF-I levels, making the ratio indicative of NICTH (Table ). The patient's blood glucose level was maintained for two weeks but he was not able to tolerate any further chemotherapy. A recurrence of septic shock leads to the development of multi-organ failure. Unfortunately, the patient expired 15 days after admission to the ICU. |
pmc-6634274-1 | A 20-year-old male presented with decreased vision over six months and was found to have a cataract. His visual acuity (VA) at presentation was hand motion (HM) in the affected eye. Slit lamp examination of the right eye (OD) revealed a minimally reactive, heterochromic iris, a corneal scar, and a dense, mature cataract suggestive of an IOFB with secondary siderosis (Figure ) and no clinically significant abnormalities in the left eye (Figure ). Further questioning revealed a previously undisclosed history of ocular trauma that occurred while hammering metal-on-metal without eye protection. B-scan ultrasonography was inconclusive for IOFB. The patient was sent for a CT scan, which confirmed the presence of an IOFB (Figure ). Surgery was performed, which consisted of a combined phacoemulsification with intraocular lens implant, pars plana vitrectomy, removal of IOFB, and endolaser to the impact site.
One day after surgery, his VA without correction was 20/60 OD and there was no sign of post-operative infection. At one-week follow-up, VA improved to 20/25 OD without correction and no other ocular complications developed. At one month after surgery, VA showed continued improvement to 20/20 OD without correction.
Electroretinogram (ERG) performed three months after surgery demonstrated clinically significant abnormal rod and cone functions in the right eye while the left eye revealed normal retinal function, suggestive of siderosis in the right eye (Figure ). Post-operative spectral domain optical coherence tomography of the macula showed normal foveal contour and no clinically significant abnormalities. |
pmc-6634275-1 | A 50-year-old African American male with a past medical history of gastric adenocarcinoma presented with left lower quadrant and peri-umbilical abdominal pain, which was chronic but had worsened over the two weeks prior to admission. He described it as sharp, intermittent, and non-radiating pain that was seven out of 10 in intensity. He also complained of poor appetite and vomiting at least once a day after eating for three months. He estimated that he lost 70 pounds during this same period of time. He denied fever, constipation, diarrhea, hematemesis, or blood in the stool.
He had extensive medical and surgical history. He was diagnosed with gastric adenocarcinoma by diagnostic laparoscopy, with a biopsy, in March 2012. In January 2014, he was admitted to Singapore General Hospital for extensive surgical resection. He underwent partial gastrectomy, subtotal colectomy, splenectomy, cholecystectomy, complete omentectomy, partial peritonectomy, and temporary abdominal closure. He then received another surgery during the same hospitalization, which included more extensive peritonectomy and hyperthermic intraperitoneal chemotherapy. Afterward, he received chemotherapy on and off in Canada.
On physical exam, he had a large midline incision with nodular hernias. There was mild tenderness to palpation in the periumbilical and left lower quadrant. Shifting dullness was present. The abdomen was firm, however, there was no guarding or rebound tenderness.
Initial laboratory results were significant for mild leukocytosis (WBC 11000/uL), hypokalemia (potassium of 2.7 mmol/L), acidosis (bicarbonate of 12 mmol/L), hypomagnesemia (magnesium 1.1 mg/dL ), hypoalbuminemia (albumin 1.5 g/dL), hypoproteinemia (total protein of 4.2 g/dL), and mildly elevated lipase (113 units/L). Liver enzymes and renal function test were within normal limits.
Computed tomography (CT) scan of the abdomen and pelvis with contrast showed diffuse pseudomyxoma peritonei with a large, septated low-density mass (Figure ) and a few calcifications along the inferomedial aspect of the left and right hepatic lobes in the region of the porta hepatis.
General surgery was consulted. The patient was deemed a potential candidate for cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (HIPEC). There was one surgeon in another hospital with more experience in this procedure so the patient was transferred there for further treatment. Over the other hospital, the patient developed hemoptysis and fever. The patient was diagnosed with pneumonia and was treated with broad-spectrum antibiotics. Unfortunately, the patient was deemed not stable enough for extensive cytoreductive surgery. He was discharged to a nursing home to follow up with the surgery team outpatient. Meanwhile, the patient was offered the option of systemic chemotherapy by an oncology team as an alternative therapy in case he could not receive surgery. Subsequently, we lost follow-up of the patient, as we were unable to get in touch with him from the second month after transfer. |
pmc-6634277-1 | A 64-year-old female presented to the outpatient clinic with a four-month history of painless progressive jaundice of skin and eyes along with loss of appetite and weight loss. On further inquiry, patient-reported one-month history of generalized itching was gradual in onset, intense at times, and mostly involved hands, forearms, and abdomen. There was also a history of pale stools and dark urine along with on and off melena. On review of systems, the patient denied abdominal pain, fever, epigastric discomfort, nausea, hematemesis, vomiting, constipation, or diarrhea. Family history was negative for any familial pathologies such as familial adenomatous polyposis or colorectal carcinoma in first degree relatives. Physical examination revealed a 4 x 2-cm reducible swelling in the epigastric region upon palpation. The abdomen was soft and non-tender otherwise.
Laboratory investigations showed elevated total serum bilirubin level (17.5 mg/dl), alkaline phosphatase (ALP; 1356 IU/L), and alanine aminotransferase (ALT; 315 IU/L). Other laboratory parameters including serum electrolytes, serum amylase, serum lipase, and coagulation profile were observed to be normal. Abdominal ultrasonogram showed dilated intra-hepatic biliary channels, distended gall bladder with the normal appearing pancreas. Common bile duct (CBD) was distended up to 2.1 cm with a 1.8 x 1.4 cm growth at its distal end (Figure ).
Computerized tomography (CT) scan of the abdomen confirmed moderate dilatation of intra & extrahepatic biliary channels and dilated CBD up to its lower end (Figure ).
Endoscopic retrograde cholangiopancreatography (ERCP) along with biopsy was scheduled and a double pigtail plastic stent (10 x 5 cm) was placed at the ampulla to achieve free drainage of the bile. Results of ERCP-guided biopsy showed papillary formation lined by cells showing mild atypia (Figure ).
The diagnosis of tubulovillous adenoma of the duodenum was made, and Whipple procedure (gastrojejunostomy, pancreaticoduodenectomy, pancreaticojejunostomy, choledochojejunostomy, and cholecystectomy) was done along with T-tube placement and feeding jejunostomy (Figure ).
No postoperative complications were observed and the patient was discharged on the eleventh postoperative day. T-tube was removed 10 days after discharge and a follow-up cholangiogram was done which came out to be normal. |
pmc-6634280-1 | We present a 65-year-old female with known coronary artery disease (CAD), diabetes mellitus (DM) type II, chronic diastolic heart failure, and a recent history of coronary artery bypass grafting (CABG), along with bioprosthetic aortic valve replacement (AVR). She presented from a nursing home with a five-day history of vomiting, cough, fever, shortness of breath and reports of low pulse oximeter readings. On admission, the leukocyte count was 16,000 (range: 4,000 - 11,000 per microliter of blood), the international normalized ratio (INR) was 8.5 (range; 2.0 - 3.0 when therapeutic), and her urinalysis revealed pyuria. Blood cultures were drawn and intravenous ciprofloxacin was empirically started for the suspected urinary tract infection (UTI) and sepsis.
Chart review revealed a protracted infectious history after the CABG and AVR. The patient’s postoperative course was complicated by sternal wound dehiscence and methicillin-susceptible S. aureus (MSSA) bacteremia. A peripherally inserted central catheter (PICC) line was used for six weeks of intravenous vancomycin administration. Two months later, she was hospitalized with recurrent falls and her blood cultures grew C. striatum. The PICC line was removed and she was discharged after 10 days of intravenous vancomycin. She returned a month later with necrotizing fasciitis in the right lower limb, which culminated in an above-the-knee amputation. Once again, blood cultures showed the growth of C. striatum. Transesophageal echocardiography done at that time was unremarkable and did not show any vegetation. The blood cultures turned negative after another four weeks of intravenous vancomycin and the PICC line was removed.
Within hours of admission, the patient developed acute tachypnea, diaphoresis, and high-grade fever. Her antibiotic regimen was switched to intravenous ampicillin-sulbactam and she was moved to the ICU. A few hours later, she had pulseless ventricular tachycardia in the intensive care unit. After two cycles of cardiopulmonary resuscitation, including defibrillation and intubation, there was a return of spontaneous circulation. She was severely hypotensive, and hemodynamic support with vasopressors was instituted. Blood cultures drawn at admission grew C. striatum yet again for which daptomycin was added to her antibiotic regimen. Repeated echocardiography still did not reveal any vegetation. The patient’s family changed her code status to 'do not resuscitate - comfort care only', and soon thereafter, she was pronounced dead. |
pmc-6634281-1 | A 75-year-old Japanese female with gastroesophageal reflux disease (GERD), dyslipidemia, hypothyroidism, and osteoporosis, presented with a two-month history of intermittent dysphagia to solid food associated with bloating and unintentional weight loss of seven pounds over two months. The dysphagia was aggravated with the consumption of starchy foods and alleviated with drinking water.
Esophagram findings demonstrated mild to moderate nonspecific esophageal dysmotility. An esophagoduodenoscopy (EGD) demonstrated gastric erythema and erosions with areas of desquamation in the antrum and prepyloric region (Figures -).
Biopsies were taken from the bulb and second portion of the duodenum which were positive for duodenal xanthoma. The patient was recommended for a repeat procedure for further resection of the xanthoma only if the dysphagia persisted. However, it resolved and the patient was recommended the procedure if the symptoms returned. |
pmc-6634282-1 | A 41-year-old African American female with a history of hypertension presented to the emergency department (ED) with complaints of chest pain. The patient had experienced intermittent chest pain throughout the night but presented to the ED in the morning after having chest pain along with shortness of breath. On examination, the patient’s vitals were stable, and the remaining systemic examination was unremarkable. Cardiology service evaluated the patient; an echocardiogram revealed the left ventricular ejection fraction to be 65% with no valvular abnormalities. The patient’s troponins were negative; however, due to the patient’s family history of premature coronary artery disease and the risk factor of hypertension, cardiology decided to evaluate the patient further using invasive angiography (IA). IA identified an anomalous right coronary artery arising from the left coronary cusp (Figures -) and having an anterior inter-arterial course with no evidence of coronary artery disease. The patient was transferred to a tertiary care center to be evaluated by cardiothoracic surgery for correction of the anomaly. |
pmc-6634283-1 | We present a 25-year-old African American female with no relevant past medical history, who presented with shortness of breath and sharp central chest pain. The patient stated that she had flu-like symptoms, including fatigue, sore throat, headaches, low-grade fever, and generalized body aches that started one week before admission. Although she took over-the-counter (OTC) flu remedies (e.g. Theraflu) and multiple non-steroidal anti-inflammatory drugs (NSAIDs); her symptoms progressively worsened to the point that she wasn’t able to walk more than a few steps due to dyspnea and fatigue. The patient denied any recent travel, sick contact, or recent influenza immunization. She smoked one pack of tobacco per day and drank alcohol socially.
In the emergency department (ED), her temperature was 98.6 °F (37 °C), heart rate 106, respiratory rate (RR) 18, and blood pressure (BP) 102/66. On physical exam, the patient was lethargic and tired without significant physical findings. Complete blood count (CBC) showed no leukocytosis, comprehensive metabolic panel (CMP) was normal except for mild hyperglycemia (155 mg/dl), and urine toxicology was negative. Antinuclear antibodies (ANA) was negative, thyroid stimulating hormone (TSH) was normal (0.54), and D-Dimer was normal. Serial electrocardiograms (EKGs) revealed sinus tachycardia with diffuse ST segment elevations and serial troponins steadily increased (2.51->2.94->3.55). Brain natriuretic peptides (BNP) was elevated (163 pg/mL) and creatinine kinase (CK) (501). The respiratory viral panel was positive for influenza A subtype H1-2009. Coxsackie A and B, parvovirus B19, immunoglobulin M (IgM), and human immunodeficiency virus (HIV) tests were negative. Chest X-ray revealed mild pulmonary edema (Figure ). The patient was admitted to the intensive care unit (ICU) and started on oseltamivir, frusemide, and spironolactone.
During her hospital stay, her condition got worse and she felt progressively cold, sweaty, with increasing shortness of breath and blood pressure continuing to run on the low side. She developed bilateral lung crackles with bilateral leg pitting edema with chest X-ray (CXR) showed worsening pulmonary edema with bilateral pleural effusions. The arterial line showed worsening cardiac index from 2.4 to 1.3 and the patient was diagnosed with cardiogenic shock and started on vasopressors (dobutamine and norepinephrine). Diuretics were held. Transthoracic echo showed normal-sized left ventricle with diffuse hypokinesis and a left ventricular ejection fraction (LVEF) of 35% with type one diastolic dysfunction of the left ventricle. Despite using vasopressors, her condition did not improve. The patient then was transferred to a tertiary center where she had extracorporeal membrane oxygenation (ECMO) placed while waiting for a cardiac transplant. However, her condition continued to deteriorate and she passed away after that. |
pmc-6634284-1 | A 31-year-old woman was admitted with high grade intermittent fever, jaundice, and watery diarrhea of one month. A week into the febrile illness, she developed pain and inflammation over the right upper arm extending below the elbow. Her past history was relevant only for controlled hypothyroidism.
On examination, the patient was alert, oriented, but ill-appearing with fever, dehydration, and icterus. There was an inflamed, indurated swelling with blisters extending from the distal third of the upper arm to the proximal one-third of the forearm, involving the elbow joint. Movement at the joint was limited due to pain. The remainder of the examination was unremarkable except for mild tenderness over the epigastrium. Her laboratory investigations are shown in Table .
Viral hepatitis and human immunodeficiency virus (HIV) antibodies were negative. Two blood cultures grew Salmonella typhi that was resistant to ampicillin, chloramphenicol, co-trimoxazole, ciprofloxacin, ceftriaxone and cefixime, and sensitive to all carbapenems and azithromycin. An ultrasound (US) of the elbow revealed large fluid collection with septations, which was incised and drained. Salmonella typhi was isolated from culture of the pus with identical sensitivities as in the blood cultures.
Meropenem 1 gm i/v 8 hourly and azithromycin 500 mg i/v od were started intravenously, but she continued to have high fever and the dose of meropenem was doubled on Day 5. During admission, the patient developed severe epigastric pain and vomiting for which she was kept nil per oral and a nasogastric tube was placed. She started to have small episodes of per rectal bleed from the eighth day of illness leading to an intermittent drop in hemoglobin. D-dimers were >15000 and fibrin degradation products >20 ug/ml suggestive of disseminated intravascular coagulation (DIC), although the activated partial thromboplastin time (APTT) remained within normal limits. Supportive blood and blood products were continued. On the 11th day the patient started having massive per rectal bleed, became hypotensive and remained so despite aggressive blood transfusions. A computed tomography (CT) scan of the abdomen reported thickening at the ileocecal junction and cecal pole with significant mesenteric lymphadenopathy and fibrotic bands in both lung fields. Digital subtraction angiography was done to identify the source of gastrointestinal (GI) bleeding. Angiography of the superior mesenteric artery (SMA), inferior mesenteric artery (IMA), mesenteric arteries, and celiac artery was performed using a 5F catheter and 035 hydrophilic guide wire. Non-ionic contrast was injected. Bleeding was detected from the cecal branch of the SMA, seen as a blush. Figure shows blush of the contrast (arrow and circle) from the cecal artery, indicating acute bleeding in the cecum.
The bleeding was stopped by using micro coils. The final angiogram showed cessation of bleeding (Figure ).
Defervescence occurred on Day 12. The patient subsequently improved clinically and her lab parameters returned to normal. She was discharged to home care on azithromycin 500 mg daily for an additional one week. Follow-up as an outpatient an additional two weeks later showed complete recovery from the infection. |
pmc-6634286-1 | A 66-year-old female, status-post deceased-donor kidney transplant in 12/2012 for diabetic nephropathy, received a 5/6 (A2, B2, DR1) human leukocyte antigen (HLA) mismatched kidney, induction with basiliximab and glucocorticoid, and maintenance therapy of tacrolimus and mycophenolate. In 03/2013, she developed abdominal pain and acute deterioration of her allograft function. CT of abdomen/pelvis showed pathologic fractures of L1 and L3 and multifocal lytic lesions throughout the iliac bones bilaterally (Figure ).
Biopsy of the posterior iliac spine and sacrum was positive for the involvement of metastatic melanoma. The other organ recipients from the same male donor (partner-kidney and cornea’s recipients) were also diagnosed with donor-derived metastatic melanoma. Hence, it is plausible to say that our patient had melanoma originated from the same source. The HLA typing of the tumor cells demonstrated XY, male-karyotype, further strengthening the diagnosis of donor-derived melanoma in our female patient. Her immunosuppressive medications were discontinued, followed by graft rejection, explantation of the allograft (which showed melanoma), and initiation of dialysis. Staging studies showed metastatic disease involving bone, spleen, and lungs (TxNxM1c stage IV) (Figure ). Her melanoma showed BRAF-V600E favorable mutation. She was started on vemurafenib (960 mg bid, from 4/2013 to 08/2013). It was later discontinued due to extensive cutaneous lesions. She was switched to Ipilimumab (3 mg/kg, every three weeks from 8/13/13 to 10/15/13, four-cycles in total) without any noteworthy side effects, significant improvement in the quality of life (90% performance status), no further progression of cancer on serial imaging, and complete remission for five years now. |
pmc-6634334-1 | A 15-year-old girl presented to the emergency department with complaints of febrile illness, cognitive decline, and grand mal epileptic seizures. She had no previous history of viral or bacterial illness, epilepsy, or any other medical condition. On clinical examination, her blood pressure was 90/60 mm Hg, her pulse was 80/bpm, and her temperature was 101 F. The mini mental state examination showed a score of 20/30, and she also had tonic contractions and clonic jerks.
The initial laboratory investigation revealed a white blood cell (WBC) count of 4.9x103 mm³ a platelet count of 248x102 mm³, and Hb level of 9.8g/dl. The serum electrolytes, renal function tests, and liver function tests were within the normal range. Serology for hepatitis B and hepatitis C turned out to be non-reactive. Erythrocyte sedimentation rate was 30mm/hour. Lumbar puncture revealed a clear cerebrospinal fluid (CSF) with a lymphocyte count of fewer than 5 cells/ml, proteins 21mg/dl, and glucose of 58mg/dl. The autoimmune workup exhibited negative anti-nuclear antibody, anti-neutrophilic cytoplasmic antibody, rheumatoid factor, and a negative autoimmune encephalitis mosaic 6, which includes AMPA, CASPR2, DPPX, GABA, LGI1, NMDA. Chest X-ray and abdominal X-ray findings were normal. An electroencephalogram (EEG) recording revealed generalized epileptic activity in the cortex. Magnetic resonance imaging (MRI) and positron emission tomography (PET) demonstrated hypoperfusion in the hippocampal region, which confirmed the diagnosis of non-paraneoplastic limbic encephalitis.
During her hospital visit, she was treated symptomatically for an acute episode of delirium, and her seizures were controlled through IV diazepam. After a confirmed diagnosis of limbic encephalitis, she received an initial course of intravenous immunoglobulin (IVIG) at 0.4 gram/kg of bodyweight for five days, followed by once weekly for four weeks. She was also given IV methylprednisolone for a week. She was discharged on 45 mg of oral prednisolone, which was later tapered off, and the anti-epileptic drugs were continued for a year until her EEG became normal. Magnetic resonance imaging performed after the treatment showed complete resolution of the inflammation in the limbic system of the brain. The patient improved significantly after completion of treatment. |
pmc-6634339-1 | A 41-year-old female with no past medical history presented to the clinic with left breast pain of two weeks duration. It was associated with a purulent discharge but no fever. She denied any current or previous pregnancies, lactation, or trauma to the breast. On examination, vital signs were within the normal limits. Left breast exam revealed areas of skin excoriation with bleeding and pus on the lower-inner quadrant. A firm lump of 6 cm X 5 cm was palpable underneath the ulcerated area. No abnormal findings were noted on the right breast. Lymph node examination revealed one palpable lymph node in the left axilla. A clinical diagnosis of left breast abscess was made and she was prescribed oral clindamycin for 10 days. She did not notice any improvement in her symptoms and she was evaluated with mammography. It showed inflammatory changes to the solid appearing areas in the regions of skin ulceration. In addition, there were multiple complicated cystic appearing lesions in various locations of the left breast (Figure ).
One abnormal left axillary lymph node was noted. The findings were classified under Breast Imaging Reporting and Data System (BI-RADS) assessment category 4 (suspicious abnormality). At this juncture, she was referred to a breast surgeon. Fine needle aspiration (FNA) of the left breast mass and the left axillary lymph node was negative for malignancy. Ultrasound-guided core biopsy of the breast revealed benign breast tissue with acute and chronic inflammation along with noncaseating granulomas and giant cells (Figure ).
Special stains were negative for tuberculosis (acid-fast bacilli) and fungal organisms (Histoplasma). Aerobic and anaerobic cultures did not grow any micro-organism including Corynebacterium kroppenstedtii.
The above findings confirmed a diagnosis of granulomatous mastitis and prednisone 0.5 mg/kg/day was initiated. She was referred to rheumatology clinic for further management. Serum anti-neutrophil cytoplasmic autoantibody (ANCA) was negative and serum angiotensin converting enzyme (ACE) level was normal. She was screened for hyperprolactinemia (an associated condition of IGM), and serum prolactin level was found to be elevated at 405.5 ng/mL (normal range for nonpregnant woman: 3-30 ng/mL). A contrast enhanced MRI of brain with detailed imaging of the pituitary gland revealed a pituitary adenoma measuring 11 mm X 10 mm X 12 mm with supra-sellar extension abutting the undersurface of optic chiasm (Figure ).
The patient responded to oral corticosteroid therapy with significant improvement in pain, discharge, and breast wound. However, due to recurrence of the symptoms with discontinuation of prednisone, she remained on 10 mg prednisone daily at the end of eight months. The plan is to add methotrexate as a steroid sparing agent. She established care with endocrinology for further management of prolactinoma and she was started on bromocriptine 2.5 mg once daily dose. |
pmc-6634343-1 | A 56-year-old African-American human immunodeficiency virus (HIV)-negative male patient presented to the general medicine clinic with an acute drop of his white blood count (WBC). His past medical history (PMH) included hypertension, type 2 diabetes mellitus, chronic obstructive pulmonary disease (COPD), and a history of schizophrenia for which he had been treated with clozapine (Clozaril) for more than 13 years. On his monthly complete blood count (CBC), the ANC was 3,400 cells/uL (normal value: 2,000 - 7,900 cells/uL) and 2,400 cells/uL one and two months prior to his presentation, respectively. Suddenly, at the current presentation, his ANC was reported to be 200 cells/uL (Figure ).
His active medications were simvastatin, metoprolol, lisinopril, aspirin, metformin, haloperidol, and benztropine, all of which he had been taking for more than five years with no adverse effect. On further questioning, the only recent new event was his influenza vaccine about seven weeks prior.
Review of systems was negative for any new symptoms, including fever, chills, asthenia, cough, or sore throat. Physical examination was unremarkable. His blood pressure was 136/99 mm Hg, the heart rate was 86 beats/min, and his temperature was 97.2° F. He was sent to the emergency department and was admitted. An HIV test, urine toxicology, and a complete metabolic panel were all unremarkable. The clozapine was stopped. The next day, he was cleared by the hematology team for discharge to follow-up as an outpatient.
His ANC was monitored closely after stopping the clozapine and the trend is shown in Figure . Seven weeks later, his ANC normalized to 4,600 cells/uL, but he had a relapse of psychosis and had to be admitted to the psychiatric unit. |
pmc-6634345-1 | An 80-year-old Caucasian male with a past medical history of hypertension and hyperthyroidism was evaluated for increasing fatigue and weakness with loss of appetite for three days.
The patient had complaints of an enlarging left neck mass that started a couple of months ago. Computed tomography of the neck revealed the presence of an 8.7 x 6 cm soft tissue mass in the mid-left cervical region extending caudally in the left supraclavicular and infraclavicular regions (Figure ). He underwent a biopsy of the mass which showed diffuse large B-cell lymphoma with t(14;18) translocation. He was undergoing a staging workup in anticipation of chemotherapy with mini-CHOP [cyclophosphamide, doxorubicin hydrochloride, vincristine sulfate (Oncovin), prednisone] plus rituximab, commonly known as R-miniCHOP. It was further complicated by deep vein thrombosis in the right internal jugular, basilic, and brachial vein, and he was started on apixaban.
On admission, his vital signs were a pulse of 83 beats per minute, respiratory rate of 24 breaths per minute, blood pressure of 122/63 mm of Hg, temperature of 36.3 °C and oxygen saturation of 100% on room air. Physical exam showed diffuse cervical lymphadenopathy with a left neck mass measuring 9 x 6 cm. Laboratory investigations were significant for elevated creatinine of 2.74 mg/dl (baseline of 0.7 mg/dl), uric acid of 15.9 mg/dl and phosphorous of 5 mg/dl with lactate dehydrogenase (LDH) of 800 U/l. His potassium levels were 3.7 mmol/l, well within the normal range. He was started on aggressive hydration and was given a dose of rasburicase with improvement in uric acid levels from 15.9 mg/dl to 6.0 mg/dl the following day. Despite aggressive resuscitation, he had a decrease in urine output and subsequently developed acute renal failure requiring hemodialysis. The trends of serum phosphorus (Figure ), serum creatinine (Figure ), and serum uric acid (Figure ) are shown respectively.
He was then started on chemotherapy with R-miniCHOP regimen. He was started on allopurinol for prophylaxis of tumor lysis syndrome in the setting of massive tumor burden. He developed severe pancytopenia as a result of chemotherapy and eventually developed multi-organ failure in the setting of poor prognosis. His family opted for comfort measures and the patient passed away soon after. |
pmc-6634349-1 | An 82-year-old man with a past medical history significant for obesity, AP secondary to cholelithiasis, prior cholecystectomy, hypertension, hyperlipidemia, diabetes mellitus, pulmonary embolism, and nonischemic cardiomyopathy presented to the emergency department with concerns of abdominal discomfort for two days. The patient reported discomfort in the epigastric region, which was non-radiating. He reported nausea but no vomiting. He reported at least two bouts of AP in the past. The patient denied any fevers, chills, lightheadedness, headaches, chest pain, shortness of breath, hematochezia, numbness, or melena. His medications included aspirin, apixaban, atorvastatin, metformin, metoprolol, spironolactone, and ramipril.
The patient reported taking GC as an appetite suppressant. On physical exam, tenderness was noted in the epigastric area, and bowel sounds were positive. His serum lipase was elevated to >600 U/L (reference range, 16 to 63 U/L), white blood cell count was 11.7 K/µL (reference range, 4.5 to 11 K/µL), hemoglobin was 13.4 g/dL (reference range, 13.5 to 17.5 g/dL), bilirubin was 0.5 mg/dL (reference range,0.1 mg/dl to 1.2 mg/dl), alkaline phosphatase was 66 IU/L (reference range 44 to 147 IU/L), alanine aminotransferase was 12 U/L (reference range, 10 U/L to 40 U/L), aspartate aminotransferase was 17 U/L (reference range, 10 to 40 U/L), and lactic acid was 0.9 mmol/L (reference range, 0.5 to 2.0 mmol/L). A computed tomography scan of the abdomen revealed fat stranding around his pancreas, which was concerning for AP (Figure ).
The patient denied any use of alcohol. Triglycerides levels were 146 mg/dL (reference range, <200 mg/dL). He was hospitalized and treated with adequate intravenous hydration, nothing by mouth, with remarkable improvement in his symptoms within 24 hours of presentation. He tolerated regular oral diet on discharge from the hospital. Due to his relatively recent consumption of GC and no recent changes in any other medications, a likely etiology of AP was thought to be secondary to the use of this herbal product. His care team recommended he avoid the use of GC in the future. |
pmc-6634939-1 | The patient was a 26-year-old female who was referred for evaluation of a saccular aneurysm of the thoracic aorta and was in continuous follow-up with a neurologist to treat epilepsy with onset at 3 months of age. During investigation she was diagnosed as having TS. She occasionally suffered generalized tonic-clonic crises and was taking anticonvulsants regularly. When bedridden, she adopted the fetal position, with periods of agitation. She had diffuse subcutaneous nodules and physical examination was difficult because of her degree of agitation. Cranial tomography showed focal hypodense lesions in the cortex, subependymal calcifications, and radial banding in the left hemisphere, compatible with TS. Magnetic resonance of the head revealed subependymal astrocytoma of the lateral ventricles. Echocardiogram findings were normal.
Computed angiotomography of the thoracic and abdominal aorta was ordered, showing a saccular aneurysm of the thoracic descending aorta, with dimensions of 83x53x49 mm (superior-inferior x lateral-lateral x antero-posterior) and a 24 mm neck to the celiac trunk, and also identifying renal angiomyolipomas ().
The patient underwent surgical treatment, with deployment of a 13x74x20 mm Zenith endoprosthesis (Cook Medical, Bloomington, IN, USA). Control arteriography did not detect any endoleaks. The patient received postoperative care in the ICU for 2 days and was discharged from hospital on the third day after the operation. She was free from complications in outpatients follow-up. Computed angiotomography of the abdominal and thoracic aorta at 6 months after the operation showed the thoracic endoprosthesis patent, with no signs of endoleaks, and the aneurysm sac diameter in regression (). |
pmc-6634940-1 | The patient was a 59-year-old female with a history of pain in the left iliac fossa and flank after prolonged standing and dyspareunia with onset 3 years previously. She was free from lower limb edema and other comorbidities. Physical examination was normal other than lower limb telangiectasias. During this period, she consulted with a rheumatologist and gynecologist, who referred her to the vascular surgery service.
Transvaginal ultrasonography found adnexal varicose veins on the left. Duplex scan findings of the aorta and renal arteries were normal. Finally, angiotomography revealed a significant reduction of the LRV in the mid third, in the topography of the passage between the SMA and the aorta, associated with ipsilateral adnexal varicose veins, providing evidence of NCS ().
After 6 months of conservative treatment, with phlebotonics and analgesics, without resolution, the decision was taken to perform surgical treatment. Repair was performed via endovascular access, after local anesthesia and sedation. The right common femoral vein was punctured and a 6F introducer sheath inserted. The LRV was catheterized with a Cobra 2 5F diagnostic catheter and phlebography was performed. This confirmed critical stenosis of the LRV and pelvic varicose veins on the left, with a discretely dilated gonadal vein (
-). The stenosis pressure gradient was not measured, which could be considered a bias in this case. Treatment consisted of deployment of a Luminex self-expanding nitinol stent (14x40 mm) in the LRV (). Additionally, 10 mL of 3% dense polidocanol foam was infused into the adnexal varicose veins. We decided not to embolize the gonadal vein, since it was only discretely dilated.
Control phlebography demonstrated complete resolution of the LRV stenosis ().
There were no complications during the surgical procedure or the immediate postoperative period. The patient recovered satisfactorily and was discharged 24 h after the procedure, with immediate relief from pain. She took clopidogrel and acetylsalicylic acid (ASA) for 30 days and then ASA only thereafter.
The patient agreed to publication of this case report and signed an informed consent form.
Five months after the endovascular treatment, the patient remained asymptomatic and was in outpatients follow-up at the clinic. During this period, control tomography showed the stent was patent and free from thrombi, with satisfactory correction of the renal compression (
). We did not observe residual stenosis, as shown by the control tomography. The stent is fully open and the renal vein free from stenosis (). |
pmc-6634949-1 | The patient was a 33-year-old, brown-skinned female, who sought care at a walk-in health center (HC) with a history of fever (> 39 °C), shivering, asthenia, nausea, vomiting, rash affecting the face and trunk, headaches, a stiff neck in the morning, and symmetrical polyarthritis of small and large joints (hips, shoulder, knees, elbows, fingers and toes). A blood test revealed leukopenia (2,190 leukocytes/µL) and elevated hematocrit (56%), probably caused by hemoconcentration secondary to dehydration. The patient was discharged from the HC with instructions to rest and take analgesics (paracetamol) and anti-inflammatories (naproxen), if needed for joint pain. Fifteen days later, she presented at the Rheumatology Service run by the Hospital Universitário Pedro Ernesto, Universidade do Estado do Rio de Janeiro (UERJ), complaining of exacerbation of the arthralgia and edema involving upper and lower limbs, despite regularly taking the medication prescribed, preventing her from working and practicing sport (muay thai). At this point, the patient no longer had fever or rash and was medicated with a combination of paracetamol-codeine and nimesulide. Around 7 days later, she returned to the Rheumatology Service, complaining of worsened edema in the upper limbs, especially on the right, and persistent arthralgia. At this consultation, laboratory tests were ordered to investigate her acute symmetrical polyarthritis and a hypothesis of CF was ventured and confirmed by reactive serology (Chikungunya antivirus ELISA IgG - Euroimmun®, > 22 UR/mL). Since the patient’s upper limb edema continued to worsen, she was referred to the Angiology Service at the Hospital Universitário Pedro Ernesto, Universidade do Estado do Rio de Janeiro (UERJ) for assessment. Physical examination found progressive edema involving all four limbs, with no improvement in response to rest, a positive Stemmer sign, and right upper and lower limbs with greater volume than the contralateral limbs (). After discussing the case in a team meeting, color Doppler ultrasonography of the deep venous system of the upper and lower limbs was requested, to rule out deep venous thrombosis, and semiquantitative lymphoscintigraphy of the upper and lower limbs was performed to guide physiotherapy. Lymphoscintigraphy () demonstrated slow lymph flow in upper and lower limbs, and collateral lymph flow in the left leg and popliteal lymph node. The patient was referred to the Physiotherapy Service for complex physiotherapy. |
pmc-6634951-1 | An active, Caucasian, otherwise healthy 38-year-old-woman was found to have a high mesogastric murmur, exacerbated during deep expiration. The remainder of her clinical examination was unremarkable, except for the presence of superficial varicose veins in her legs. Her complaints were post-prandial abdominal pain, dyspepsia, and post-exertional fatigue. Initial Doppler US () and subsequent MSCTA () suggested and confirmed, respectively, extrinsic celiac artery compression by the median arcuate ligament, compatible with CACS. In view of her symptoms, which were causing significant food intake restrictions and weight loss, surgical (laparotomic) treatment of the condition was proposed to the patient. The procedure was undertaken uneventfully and successfully, with section of the median arcuate ligament and the fibers of the celiac plexus. Three months later, the patient is totally free from any symptoms and a follow-up MSCTA () showed decompression of the celiac trunk. |
pmc-6635108-1 | A 61-year-old female presented to an outside hospital with painful swelling of the left chest and left sided ulcerative breast carcinoma with a medical history of coughing about last months. She reported that she had recognized a tumor of the left breast 1 year before admission. But she did not want to clarify her findings.
The white blood count showed 16.4 × 10
3
/μL leukocytes and elevated C-reactive protein of 216.1 mg/L. Initial workup included X-ray imaging of the chest and showed pleural effusion of the left side. Ultrasound of the swelling revealed a large abscess of the left chest with suspicion of communication to the pleural effusion. Following CT showed a pleural empyema with expansion per continuitatem to the left chest and left upper abdominal quadrant (
). Puncture of chest abscess formation revealed pus. Microbiological cultures returned positive for
A. meyeri
and
Staphylococcus hominis
. She was started on sulbactam and ampicillin and was urgently transferred to our hospital for further management.
A second CT scan revealed a recession of the pleural empyema and intra-abdominal abscess formation. Therefore, we performed a debridement of the chest abscess formation and excision of the fistula between pleural space and left chest. To close, the chest wound temporarily and to accelerate wound healing, V.A.C. (Vacuum Assisted Closure, V.A.C.ULTA™ Therapy System, KCI Medizinprodukte GmbH) therapy was initiated.
After one cycle of 4 days V.A.C. therapy reconstruction of the skin and soft tissue defects was performed. The patient recovered completely. Workup of the breast carcinoma showed no further metastasis. She was discharged 5 days after wound reconstruction. Additionally, we initiated a gynecological consultation.
Oral antibiotic treatment was continued for 6 months. Follow-up examination showed recovery of chest, lung and abdomen (
). |
pmc-6635142-1 | A 63-year-old housewife was admitted to the hospital with cough, fever, and dyspnoea of a duration of more than 2 weeks. She was treated with methylprednisolone and antibiotics for cryptogenic organizing pneumonia (COP) and superadded infection, respectively, in an intensive care unit (ICU) elsewhere, prior to the present admission, along with supplemental O2. Her relevant lab data were as follows: SpO2: 88% (PaO2 58.1 mmHg), hyponatraemia of 128 mg%, and serum albumin: 2.6 g. High resolution computed tomography (HRCT)-Chest at previous admission was as shown in Figure A, B.
A bronchoalveolar lavage fluid (BALF) smear for acid-fast bacilli (AFB) was positive, and histopathological examination of transbronchial lung biopsy (TBLB) showed a granulomatous lesion with necrosis consistent with TB. She showed gradual clinicoradiological improvement with ATT and was maintaining normal SpO2 at room air more than 12 weeks after her discharge. |
pmc-6635142-2 | A 55-year-old male pharmacist, with no previous health issues, was admitted to hospital with fever of a duration of 2 weeks and dyspnoea for a week, with an SpO2 of 89% on room air (PaO2. 57.9 mmHg), aspartate aminotransferase (AST) of 65 μ/L, total bilirubin of 1.6 mg/dL, platelet count of 89,000, and serum creatinine of 2.1 mg%; radiographic and computed tomography (CT) findings were as shown in Figure A, B. In view of the initial clinicoradiological presentation, subacute hypersensitivity pneumonitis was also considered a differential diagnosis. TBLB showed granulomatous lesions with caseating necrosis, consistent with TB. The patient showed rapid clinicoradiological recovery with ATT. |
pmc-6635142-3 | An 18-year-old female college student presented to the emergency room (ER) with a history of fever, cough for 2 weeks, and rapidly progressing dyspnoea for 2 days. She had a history of contact with TB through her father. She was tachypneic and tachycardic (HR:165 bpm). SpO2 was 86% on high-flow O2 with a PaO2 of 51.5 mmHg. While being stabilized on non-invasive ventilation (NIV) in the ER, the patient became severely breathless and had to be intubated and ventilated. Chest X-Ray showed consolidation involving the right upper lobe, with patchy consolidation in the left upper lobe (Fig. ). Endotracheal tube (ET) secretions returned positive for AFB. ATT was started along with supportive treatment. The patient was extubated successfully on day 4 and made an uneventful recovery. |
pmc-6635142-4 | A 49-year-old female with a history of asthma and allergic bronchopulmonary aspergillosis (ABPA), being treated with long-term inhaled corticosteroids (ICS) + long-acting beta-agonist (LABA) and alternate-day prednisolone, was admitted with cough, low-grade fever for a month, and increasing dyspnoea for 2 weeks. SpO2 at room air was 88% (PaO2 of 58 mmHg). Her HRCT-Chest findings were as shown in Fig. . She was started on ATT after her BALF tested positive for AFB. In addition, her TBLB showed granulomatous lesions with caseating necrosis, and her BALF culture was later found to be positive for Mycobacterium tuberculosis complex. She showed gradual clinicoradiological improvement, and her PaO2 returned to normal with SpO2 (at room air) of 96% at 6-month follow up. |
pmc-6635185-1 | A 53-year-old man presented with facial palsy on the left side in 2016. He had suffered from facial palsy since the age of 20. The etiology was uncertain.
The facial palsy was complete (preoperative House-Brackmann’s score: grade VI) (see video, Supplemental Digital Content 1, which displays preop view of the patient affected by long-standing facial paralysis, ). |
pmc-6635193-1 | The first patient is a 54-year-old woman with a history of arthritis, fibromyalgia, and hypothyroidism who had initially undergone an arthroscopic debridement of a right triangular fibrocartilage complex and scapholunate ligament tear. The patient had persistence of symptoms and decreased range of motion. She received multiple steroid injections to the radiocarpal joint without relief. Radiographs showed progressive radiocarpal arthritis, and she elected to proceed with a radiocarpal fusion with a Darrach resection 15 months later. While the patient’s pain improved, she complained of decreased range of motion in the wrist. On examination, she had 0 degrees of pronation and supination of the right wrist. Plain radiographs confirmed synostosis of the interosseous membrane of the distal radius and ulna secondary to heterotopic ossification (Fig. ).
She was taken to the operating room, and after axillary block anesthesia, the extremity was exsanguinated and a tourniquet inflated. A longitudinal incision was made along the ulnar side of the dorsum of the distal extremity. The extensor carpi ulnaris tendon and the ulnar sensory nerve were identified and retracted. The slips of the extensor digitorum communis tendons were elevated from the soft tissue, exposing the heterotopic ossification. With intraoperative fluoroscopy, the heterotopic bone was completely resected with the aid of a sagittal saw, osteotome, and rongeur. Afterward, the forearm could be supinated and pronated without difficulty.
A 8 mm × 12 mm × 0.5 mm piece of FlexHD ADM (FlexHD Structural; Musculoskeletal Transplant Foundation, Edison, NJ) was prepared in a cigar fashion with the dermis facing outward, by suturing one edge to the other using 3–0 Tycron sutures (Fig. ). The ADM construct was secured to the base of the radioulnar joint volar to the pronator teres muscle with TiCron (Medline, Northfield, IL) sutures placed proximally and distally. Additionally, Mersilene (Ethicon US, LLC., Bridgewater, NJ) sutures were placed to secure the ADM to the ulna and radius after suture holes were created with a k-wire (Fig. ). Care is taken to completely cover the area previously spanned by the heterotopic ossification. Supination and pronation were tested again, and the ADM was inspected confirming stable positioning. The soft tissues were closed in layers, and capillary refill was verified after the deflation of the tourniquet. The patient was placed in a volar splint for 3 weeks. She then began therapy including strengthening, flexibility, and functional retraining.
At 39 months follow-up, the patient has significant improvement in the range of motion with 50 degrees pronation and 70 degrees supination and no radiographic evidence of recurrent distal radioulnar synostosis (Fig. ). |
pmc-6635193-2 | The second patient is an otherwise healthy 83-year-old woman with a history of a ground level fall resulting in a severely comminuted, intra-articular, right, distal radius fracture with a displaced ulna fracture. She had an open reduction with internal fixation of the distal radius with a Darrach resection and repair of the dorsal capsule. At 6 months, the fracture was well healed, but the patient was unable to pronate or supinate the arm, and radiographs confirmed heterotopic ossification between the radius and ulna (Fig. ). The patient had surgical resection of the heterotopic ossification and placement of ADM as described earlier with intraoperative restoration of 60 degrees of pronation and 60 degrees of supination. At 33 months, she continues to have a 120-degree total arc of pronation/supination and no radiographic evidence of recurrent synostosis, though there is evidence of heterotopic ossification at the distal ulna (Fig. ). |
pmc-6635204-1 | An 71-year-old woman presented with a 15 mm × 10 mm superficial basal cell carcinoma of the middle upper lip, which was excised with the cutaneous upper lip to vermillion, including part of the orbicularis oris. This resulted in a 23 mm × 18 mm defect over the upper lip that included the upper dry red lip and some of the wet red lip (Fig. ). |
pmc-6635267-1 | The patient was a 65-year-old Japanese female. One year before her admission to the study, she experienced dryness in her eyes and mouth. She developed weakness in her lower limbs and thermal hypoalgesia of bilateral upper and lower limbs 2 months later; these symptoms gradually worsened. Magnetic resonance imaging (MRI) revealed that the cause of her neurological symptoms was cervical myelitis. She was diagnosed with Sjögren's syndrome because she tested positive for the ophthalmic test (Schirmer's test and fluorescent test) and for the anti-SS-A and SS-B antibodies. The patient's myelitis was also thought to be related to SS. Optic neuritis, symptomatic cerebral syndrome, and brainstem syndrome, which were the diagnostic criteria for NMO, were not observed. Remission induction therapy consisting of two courses of GC pulse therapy (methylprednisolone [mPSL] at 1 g/day) and monthly intravenous cyclophosphamide (IVCY) was introduced 4 months before her admission to this study. Both neurological symptoms and MRI findings improved, and the prednisolone (PSL) dose was gradually decreased. One month before the study, the patient's muscle weakness and thermal hypoalgesia of limbs exacerbated. Further, MRI revealed a recurrence of cervical myelitis (Fig. a). The PSL dose was 17.5 mg/day, while 3 courses of the monthly IVCY had been administered at this time. Since it was a case of refractory myelitis that showed treatment resistance to the combination therapy of high-dose GCs and IVCY, we decided to re-introduce 2 courses of GC pulse therapy (mPSL, 1 g/day) and added 6 courses of plasma exchange (Fig. ). However, it was expected that it would be difficult for GCs monotherapy alone to maintain remission. Therefore, a combination therapy containing an immunosuppressive agent other than IVCY was deemed more desirable. The serum amyloid A protein (SAA) levels which did not increase at the onset (SAA levels at onset were 2.6 μg/l) were elevated with the recurrence of cervical myelitis (532.4 μg/l). The CSF levels of IL-6 did not increase beyond 3.0 pg/ml since onset. The major laboratory findings at admission are described in Table . SAA production is induced in the liver upon stimulation by pro-inflammatory cytokines such as interleukin-6 (IL-6).[ Given the results from previous reports highlighting the involvement of IL-6 in the deterioration of the pathophysiology, we introduced tocilizumab (TCZ), an IL-6 receptor inhibitor. TCZ was administered after obtaining approval for use from the ethics committee of our hospital. Low SAA levels were maintained after introducing subcutaneous administration of TCZ (162 mg every two weeks) (Fig. ). Although the neurological symptoms and MRI findings deteriorated temporarily (Fig. b and c), they gradually improved with treatment. At eight months after the introduction of TCZ, the PSL dose has been decreased to 8.5 mg/day and the myelitis has not relapsed (Fig. d and e). The Barthel index (total score) improved from 55 points at admission (feeding: 5, transfers from bed to chair and back: 10, grooming: 0, toilet use: 5, bathing: 0, mobility on level surfaces: 10, stairs: 0, dressing: 5, bowels: 10, bladder: 10) to 90 points after eight months of TCZ treatment (feeding: 10, transfers from bed to chair and back: 15, grooming: 5, toilet use: 10, bathing: 5, mobility on level surfaces: 15, stairs: 0, dressing: 10, bowels: 10, bladder: 10). We have not observed any serious adverse events including infections during the treatment with TCZ. Gradually, PSL administration will be decreased while that of TCZ will be continued. |
pmc-6635269-1 | The patient was a 32-year-old woman with a history of infertility for 7 years. Her BMI was 22.22 kg/m2, and she showed irregular menstrual cycles with intervals of 30 to 90 days. In the past, she had received 6 cycles of drug-induced ovulation (clomiphene or urinary gonadotropins), which resulted in the growth of dominant follicles but no conceptions. Physical examination showed no obvious acne or hirsutism. An ultrasonogram showed ovarian polycystic changes, and hysterosalpingography (HSG) suggested bilateral fallopian tube insufficiency due to obstruction. Laboratory examination depicted the following hormonal concentrations in serum: basic follicle stimulation hormone (FSH), 4.46 U/L; LH, 11.61 U/L; estradiol (E2), 86 pg/mL; PRL, 23.6 ng/mL; and T, 0.25 ng/mL. Peripheral chromosomal examination displayed a 46, XX karyotype. The patient's husband was 38 years old and did not smoke or drink alcohol. The 5th WHO semen parameter standard was used to evaluate his semen and the results were within normal ranges. Chromosomal examination of the husband showed a 46, XY karyotype. The initial diagnosis was primary infertility, polycystic ovary syndrome (PCOS), and bilateral fallopian tube obstruction. The patient met the indications for assisted reproductive technology (ART), and in vitro fertilization (IVF) technology was used to assist in conception.
In June 2015, the patient received a first cycle of IVF, with a gonadotropin-releasing hormone agonist (GnRH-a) long regimen initiated in the luteal phase. GnRH-a (Diphereline, 0.1 mg, France, Epson) administration commenced from the 20th day of the last menstrual period to downregulate pituitary function, and the treatment period lasted for 18 days. Serum sex hormones were evaluated on the first day of GnRH-a administration (day 5 of the menstrual cycle), and values were FSH, 3.11 U/L; LH, 1.17 U/L; and E2, 39 pg/mL. We then administered a combination therapy of r-FSH (Gonal-F 75 U, Merck, Germany) and HMG (75 U, Livzon Pharmaceutical), and the totals amounts of Gonal-F and HMG were 825 units each. The E2 levels were 346, 1150, and 3080 pg/mL on days 6, 9, and 12, respectively. On day 13 we observed the following hormone concentrations: E2, 4029 pg/mL; LH, 0.51 U/L; and PRL, 1.04 ng/mL; and bilateral ovaries ≥14 mm were observed. We noted 17 follicles (left ovarian diameter ≥ 17 mm, with 5 dominant follicles; right ovarian diameter ≥ 17 mm, with 4 dominant follicles). A dual trigger of 2000 U of hCG (Livzon Pharmaceutical) and 250 μg of r-hCG (Ovidrel, European Serono, France) was then provided. Ultrasound-guided vaginal puncture was performed to retrieve oocytes 36 hours later, but we could not retrieve oocytes from the left ovary even after repeated washings. Serum hormone concentrations were β-HCG, 64.27 U/L; E2, 3209 pg/mL; PRL, 7.86 ng/mL; and LH, 0.78 U/L. After 2 hours, a more-experienced physician attempted to aspirate oocytes from the right ovary, but was unsuccessful. This cycle was then cancelled.
In November 2015, a second cycle of IVF was begun, and we used a fixed GnRH antagonist protocol. From the first to fifth days (menstrual period days 3–8), we administered 5 mg/d of oral letrozole and 150 U of urinary gonadotropin (HMG). Gonadotropin-releasing hormone antagonist (GnRH-ant) (Cetrotide, 0.25 mg, Baxter, Germany) was administered from the 6th day to the trigger day. The treatment period lasted for 13 days, and a total of 2025 U of Exogenous gonadotropins were used. The serum E2 levels on days 1, 9, and 12 were 55, 483, and 2133 pg/mL, respectively. On day 13, we observed the following hormone concentrations in serum: E2, 2409 pg/mL; LH, 4.81 U/L; and PRL, 1.85 ng/mL; and observed bilateral ovaries ≥ 14 mm in diameter. We observed a total of 22 follicles (left ovarian diameter ≥ 17 mm, with 5 dominant follicles; right ovarian diameter ≥ 17 mm, with 8 dominant follicles). On day 13, 10,000 U of hCG and 250 μg of Ovidrel were injected. After 36 hours, 1 mature oocyte and 1 suspected oocyte (the latter appearing as a granulosa cumulus cell cluster that was later confirmed to be an immature oocyte) were obtained from the right ovary. The serum β-hCG level was 236.63 mIU/mL, E2 was 1456 pg/mL, and PRL was 13.13 ng/mL. After 2 hours, another puncture was performed and on oocyte was aspirated from the left ovary; diphereline (0.2 mg) was then injected despite the high bioavailability of serum hCG. However, there was still no retrievable oocyte from the left ovary 24 hours later. Spermatozoa provided normal fertilization after 18 hours of in vitro culture, and 2 grade-III embryos developed after 72 hours. In March 2016, although the replacement cycle frozen-thawed embryo transfer was itself replaced and 2 embryos were transplanted, the patient did not conceive.
In November 2016, the patient received a third cycle of IVF. We still used the fixed GnRH-antagonist protocol, and 225 U of HMG was injected on the 14th day of the menstrual cycle. GnRH-ant (Cetrotide, 0.25 mg) was then administered from day 6 to the trigger day. The treatment period lasted for 11 days and a total of 2850 U of Exogenous gonadotropins were used. Serum E2 levels on days 1, 6, and 9 were 86, 1229, and 4814 pg/ml, respectively. On day 11 we detected in serum the following hormonal concentrations: E2, 5060 pg/mL; LH, 2.60 U/L; and PRL, 0.59 ng/mL; and observed bilateral ovaries ≥ 14 mm. We observed 12 follicles (left ovarian diameter ≥ 17 mm, with 2 dominant follicles; right ovarian diameter ≥ 17 mm, with 1 dominant follicle). We injected the first trigger of 0.2 mg of GnRHa at 3:00 p.m., and gave the second trigger of 250 μg of Ovidrel and 2000 U of hCG at 9:00 p.m. Thirty-six hours after the second trigger, ultrasound-guided vaginal puncture was performed and 11 oocytes were retrieved from the 2 ovaries (M I × 3, M II × 8). These oocytes were inseminated by IVF, and 7 fertilized normally after 18 hours. Two embryos developed 72 hours later (embryo rating, 6C II × 1, 9C II × 1), and the whole embryos were frozen. |
pmc-6635272-1 | A 77-year-old man was seen in the radiation oncology center at our hospital because of a persistently elevated serum level of prostate-specific antigen (PSA) in March 7, 2016. Ten years earlier, he was found to have a PSA level of 52.736 ng/ml at his annual physical examination. And pelvic MRI revealed an evidence of PCa. The reminder of the examination is unremarkable. Thus, a systematic transrectal ultrasound-guided biopsy in February 7, 2007 demonstrated bilateral focus of adenocarcinoma (Gleason score, 9 out of 10 [left side, grade 4 plus grade5]; 7 out of 10 [right side, grade 3 plus grade 4]). The patient was treated with radical prostatectomy (RP) because of the definite diagnosis on March 8, 2007. Surgical pathology showed no tumor invasion in the left and right seminal vesicles and deferens, and no metastasis was found in bilateral iliac lymph nodes, but with bladder neck invasion. So, the pretreatment clinical and postoperative pathologic features suggested that he fell into pT4N0M0 stage and the National Comprehensive Cancer Network high-risk group. Following surgery, the patient was regularly monitored serum level of PSA. And it decreased to 0.001 ng/ml 25 days after RP. However, 2 consecutive follow-up PSA values higher than 0.2 ng/ml approximately 2 months after RP. Casodex was then used as one of an adjuvant therapy at another institution at May 10, 2007, due to consideration of the BCR. During the next 9 years, he was treated with different endocrine agents because of unstable serum levels of PSA, which including leuprorelin, goserelin, flutamide. Nevertheless, the serum level of testosterone was maintained at castration level, but serum levels of PSA still elevated. Until February 22, 2016, the pelvic MRI showed a nodule in the prostate and should be further confirmed whether it was a local recurrence (Fig. ). After MDT discussion, the current diagnoses of this patient were:
Postoperative PCa, high risk;
CRPC;
local recurrence.
According to the absence of clear guidelines, treatment options at this stage are difficult to choose. Generally, there are several possible treatment options as follows:
continuous androgen-deprivation therapy (ADT);
secondary surgery;
salvage radiation therapy (SRT);
systemic treatment with docetaxel or other medicine, or
other treatments.
In our institution, PCa MDT was carried out for this patient, and then the SRT was suggested for the patients. Therefore, the patient underwent pelvic RT from March 10, 2016 to May 3, 2016 with a total dose of 200 cGy × 37 F = 7400 cGy. The target area was the prostate tumor bed area + local recurrence area. Each stage of field modification was based on diffusion images of the patient with MR, in order to minimize the doses of organs at risk, while maximizing the radiation doses of locally recurrent lesions. After 37 fractions of RT treatment, he underwent follow-up examinations every 3 months. The serum levels of PSA were all between 0 and 0.007 ng/ml, and serum levels of testosterone were between 41.9 and 188.7 ng/dl. After 1 year of RT, the pelvic MRI scan in June 26, 2017 showed no evidence of nodules in the prostate region and no enlarged lymph nodes were found in the pelvic cavity (Fig. ). And EPIC26 scale assessment revealed leak-free urine, good urine control, no defecation abnormalities or blood in the stool, no breast tenderness and breast enlargement significantly improved. The patient now has no adjuvant therapy, including endocrine therapy. Quality of life intact, and is still under follow-up, the specific course of disease and related treatment shown in Figure . |
pmc-6635282-1 | A 56-year-old male with a history of right lower limb arteriovenous malformation, diagnosed when he was 2 years’ old, was living in Tomioka Town, located 5 to 14 kilometers south from the FDNPP, before the FDNPP accident (Fig. ). He was recognized as having a grade 3 extremity disability (a unilateral lower limb that does not function completely) by the Act for the Welfare of Persons with Physical Disabilities in Japan. Although his right lower limb was difficult to use, he could walk using crutches. Some support was necessary from his family members; however, he had been able to live without limitations in daily activities before the disaster.
On March 11 in 2011, the patient experienced the Great East Japan Earthquake while at his home with his family. The tsunami did not reach their house. The next day, the Japanese central government declared Tomioka town as part of the mandatory evacuation zone. The patient and his family immediately evacuated to an evacuation center in Tamura city, 40 km west from their home. (Fig. ) Although the evacuation center was open to all evacuees, no space was particularly prepared for people with physical disabilities, leading our patient to spend almost all of his time in his car because he felt that his existence in the public space may become a nuisance to others. Several days later, he moved to a room in a hotel in Koriyama city, 60 km west from Tomioka town. (Fig. ) Dramatic environmental changes from repeated evacuations imposed a significant physical burden to our patient. He also experienced psychological stress, feeling that he was imposing a strain on family because he thought that his existence prevented his family from being able to freely evacuate.
Three months after initial evacuation, he was referred to a hospital near the hotel in Koriyama city, with symptoms of fever and palpitation. He was admitted to the hospital with a new diagnosis of atrial fibrillation and congestive cardiac failure. During this admission there was deterioration of his right lower limb arteriovenous malformation, located between his abdominal aorta and right femoral artery, which caused a right foot ulcer. He was treated with anticoagulation therapy and diuretic therapy, and was discharged from the hospital approximately one month after the admission, although his foot ulcer required frequent care because it was refractory after hospital discharge.
The hospital admission after repeated evacuations notably weakened our patient's physical activity. After hospital discharge (approximately 4 months after his initial evacuation from Tomioka town), he moved into a temporary house constructed for evacuees in Koriyama city because the mandatory evacuation order continued. Although he could not ambulate, dress, or bathe himself without support, he did not need support for eating and using the toilet. The temporary house presented a particularly difficult environment for someone with a physical disability; unpaved roads around the house severely limited his opportunities to go outside and the bath was too narrow to use while requiring support from family.
His physical condition gradually worsened. Continuation of frequent care, such as washing and applying ointments, did not improve his foot ulcer. Following a detailed medical examination in February 2012, which revealed that his arteriovenous malformation was no longer eligible for aggressive intervention, he decided to only be treated with supportive therapy. From August 2012, he became confined to bed and required assistance for all activities of daily living. In July 2013, he was no longer able to go out to temporarily visit his original home in the evacuation zone, which had been only thing he looked forward to. He prioritized time with his family, did not like being admitted to hospital, and did not seek medical care outside of periodic visits to the clinic. Although he was hardly eating, and was aware of pain in his right limb and shortness of breath from December 2013, he did not visit the hospital. In the middle of a night in February 2014, he was transported to the hospital after massive bleeding from his right foot ulcer. After admission to the hospital, infection to the ulcer was found in addition to refractory bleeding. Despite blood infusion therapy and antibiotic therapy, he died of septic shock 18 days after admission. |
pmc-6635299-1 | A 70-year-old woman was referred to our hospital due to ocular discomfort in her right eye. Her symptoms had started 10 days earlier and coincided with a mild eye injury due to soil. At that time, she was seen at an ophthalmology clinic and was treated with topical moxifloxacin 0.5% (Vigamox, Alcon, TX) and ofloxacin (Quinovid, Hanlim, Seoul, South Korea) for 1 week. Because her condition subsequently deteriorated, she was referred to our tertiary ophthalmology clinic. She had been diagnosed with hypertension 7 years earlier, but did not have any other relevant ocular history. Upon examination, her visual acuity was hand motion in the right eye and 20/25 in the left eye. Slit lamp examination showed a marked conjunctival infection with epithelial defects and large stromal infiltration with corneal melting. The anterior chamber was filled with inflammatory cells and a 1.5 mm hypopyon level (Fig. ). The posterior chamber appeared hazy. The intraocular pressure (IOP) in her right eye was 10 mmHg, and the IOP in her left eye was 15 mmHg.
Corneal scrapings were taken immediately and cultured on blood agar, chocolate agar, Sabaroud dextrose agar (SDA), and eosin methylene blue agar. A Potassium Hydroxide (KOH) wet preparation test revealed the presence of fungal hyphae. These microscopic findings, along with the soil exposure history of the patient and her lack of response to antibiotics, suggested fungal keratitis. She was started on topical moxifloxacin 0.5% (Moroxacin, Hanmi, Seoul, South Korea), 0.2% fluconazole (Diflucan, Pfizer, Cedex, France), and 0.125% amphotericin B (Fungizone, BMS, South Korea) eye drops every 30 minutes, as well as intravenous systemic fluconazole (Diflucan, Pfizer, Cedex, France) 100 mg twice daily. After 4 days, the size of the corneal epithelial defect and infiltration had increased and the edema had worsened. A new satellite lesion appeared superotemporal to the original lesion, and the amount of hypopyon had increased to a height of 2.0 mm. The following day, a species of Scedosporium was isolated from the first corneal scraping culture. Because Scedosporium species are more susceptible to voriconazole than to other antifungal agents, the patient was started on treatment with topical voriconazle 2% (Vfend, Pfizer, Sandwich, UK) eye drops, as well as 4 mg/kg systemic intravenous voriconazole (Vfend), administered twice daily. Although the corneal epithelial defect and corneal melting slightly improved and corneal thinning did not progress, anterior chamber inflammation and hypopyon persisted. On day 16, the patient was discharged on treatment with topical moxifloxacin 0.5% every 2 hours, 0.125% amphotericin B and voriconazole 2% every hour, and 200 mg systemic voriconazole (PO) every 12 hours.
Examination 1 month later showed that her corneal lesion had stabilized. Her treatment was changed, with eye drops instilled every 4 hours and systemic voriconazole dosage reduced. However, at 3 months, ocular pain recurred in her right eye. Slit lamp examination showed that the area of corneal stromal infiltration and hypopyon had increased, corneal melting was advanced, and a corneal perforation had occurred (Fig. A). After deciding to remove the infected tissue surgically, the patient underwent evisceration with silicone ball implantation, followed by intravenous administration of 200 mg ciprofloxacin (Citopcin, CJ, Seoul, South Korea) twice daily, and, after 4 days of pressure pad dressing, instillation of moxifloxacin 0.5% eye drops every 4 hours. The patient was discharged 1 week later with a stabilized conjunctival sutured site.
Two weeks later, dehiscence of the conjunctiva and scleral was observed, for which the patient underwent additional suturing of the conjunctiva and sclera, and amniotic membrane implantation. Ten days after the second operation, the patient presented with amniotic membrane melting and re-dehiscence of tissues, along with necrotic scleritis (Fig. B). An orbital computed tomography (CT) scan showed thickening of the entire sclera and enhancement of the orbit. To control the recurrent regional infection, an additional enucleation was performed.
The fungal isolate was obtained from the necrotic tissue, and it was identified as Scedosporium aurantiacum by macroscopic and microscopic morphologies and sequence analysis of the internal transcribed spacer (ITS) (Fig. C and D). The ITS region (including the 5.8S rRNA gene) and the 26S rRNA gene D1/D2 domains were amplified with the primer pair of pITS-F (5′-GTCGTAACAAGGTTAACCTGCGG-3′) and pITS-R (5′-CCTCCGCTTATTGATATGC-3′).[ Sequence similarity searches were performed using basic local alignment search tool (BLAST), which revealed a complete (100%) match with S aurantiacum. In vitro susceptibility testing was performed by a broth microdilution assay according to the methods of the Clinical and Laboratory Standards Institute (CLSI) M38-A2.[ The minimum inhibitory concentration (MIC) of amphotericin B, itraconazole, posaconazole, voriconazole, caspofungin, and micafungin for the isolate determined at 48 hours were 16, 16, 2, 1, 8, and 8 μg/mL, respectively.
One week after the third operation, conjunctival suturing was again performed because of dehiscence of the sutured site with tissue melting. While hospitalized, the patient was treated with topical voriconazole 2% hourly, 0.125% amphotericin B every 4 hours, and intravenous voriconazle 4 mg/kg every 12 hours, based on the susceptibility of the isolated pathogen to antifungal agents. After 9 weeks of systemic voriconazole treatment, intravenous for 3 weeks and oral for 6 weeks, the infection was controlled and did not recur or worsen. |
pmc-6635301-1 | A 54-year-old female presented in our department in July 2016 with a one-year history of recurrent episodes of hypogastric pain. She stated that the worsening abdominal pain associated with vomiting, nausea, melena, and weight loss of 10 kg in recent 5 months. She was previously healthy and had no special medical history. Regarding her family history, there were no other cases of gastrointestinal tumors, inflammatory bowel diseases. No physical and laboratory abnormalities were found. Upper gastrointestinal endoscopy and colonoscopy were all normal. An abdominal enhanced computed tomography (CT) showed a 2.4 × 2.3 cm soft tissue mass shadow with mild delayed enhancement extended into the distal ileal lumen of the right pelvic (Fig. ); an intestinal gastrointestinal stromal tumor (GIST) was suspected.
Open surgery disclosed that a palpable mass, about 2 cm in diameter, located in the ileum 320 cm from the ieocaecal valve. The tumor manifested as a transmural mass extending to the ileal lumen which was adjacent to the right pelvic side wall, resulting in the narrow of lumen and the dilatation of the ileum proximal to the stenosis. These findings were consensus with the CT finding. A complete excision of the tumor was performed. Histologic examination revealed a diffuse infiltration of the muscularis propria by a proliferation of spindle cells and mature ganglion cells. Immunohistochemical staining showed that strong immunoreactivity for S-100 protein, synaptophysin, and NeuN (Fig. ); Immunostaining for anti-CD117 and DOG-1 for interstitial cells of Cajal was negative, and positive Ki67 <1% (Fig. ). Thus, a final pathologic diagnosis of diffuse intestinal ganglioneuromatosis (IGNM) was made.
A thorough physical examination excluded the association of IGNM with systemic syndromes, namely NF-1and MEN2b. Following her diagnosis of sporadic IGNM, the patient was asymptomatic without complications after 26 months of follow-up. |
pmc-6635341-1 | A female aged 78-year-old who resided in Mazandaran Province, Iran was admitted with cardiac arrest to a Coronary Care Unit (CCU) of Heart Centers in north of Iran, Aug 2015. Due to worse state of consciousness and clinical conditions, the patient was transferred to Intensive Care Unit (ICU) and intubated.
On the fifth day after admission, on examination of buccal cavity, some tiny worm-like creature moving around inside were observed on tongue and upper lip of the patient; eight wormlike bodies were collected from buccal cavity of the patient by a forceps and transferred to Department of Parasitology, Babol Branch Islamic Azad University for examination and identification (, A). Besides, no lesion and bleeding were observed on examination of patient buccal cavity. Surprisingly enough, by wandering the environment a fly was observed while roaming freely in the ICU. Although all of windows were equipped with net in order to exclude insects some of them were torn partly.
The white and motile collected bodies which ranged from 8 to12 mm identified as third instar transition of L. sericata larvae (green bottle fly) based on the morphological examination of posterior spiracles of larvae using Walker identification key () (, B and C). On admission, except the cardiac arrest, no abnormality was found in physical examination and all results of routine laboratory examinations were normal. In addition, the data obtained from the patient history indicated that she did not suffer any underlying diseases such as diabetes.
Informed consent was taken from the patient before the study and the study was approved by local Ethics Committee (IR.SHMU.REC.1397.040). |
pmc-6635342-1 | A 45 yr old woman was referred by a gynecologist for evaluation of suspected genital warts. The patient was not aware of these lesions until they were noticed by her gynecologist on a routine examination. Our patient was a healthy married multiparous woman with no history of extramarital sexual contacts. She gave no history of genital lesions on her husband. Examination identified soft digitate mucous colored papules on the vestibule and inner aspect of both labia minora ().
A biopsy was performed showing a normal epidermis overlying a papillomatous lesion with fibrovascular stroma. No koilocytes were seen. Immunohistochemical staining for human papillomavirus (HPV) was negative. The findings were consistent with a diagnosis of vulvar vestibular papillomatosis (). |
pmc-6635342-2 | A 39 yr old woman was referred to the Dermatology Clinic with 2 yr history of increasing asymptomatic multiple skin-colored lesions in her vulva. She had been diagnosed as genital warts. Physical examination revealed multiple discrete, soft, flat-topped papules measuring 1 to 3 mm in diameter on the outer labia majora (). The labia minora were normal and there were no similar lesions at any other sites. A punch biopsy revealed numerous ductal structures dispersed within a fibrous stroma. The ducts lined by two rows of epithelial cells; some showed “comma-like tail” or “tadpole” appearance (). Subsequently, the patient was diagnosed with syringoma. |
pmc-6635342-3 | A married 44-yr-old woman presented with progressive verrucous vulvar lesions for three years. She also was complaining of pruritus and burning sensation. Her past medical history was unremarkable and there were no similar lesions on her husband. On physical examination, there were clusters of grayish white papules varying from 3 to 7 mm in size on labia major and clitoris (). She had been treated as a genital wart with podophyllin and cryotherapy without any benefit. Subsequently, a punch biopsy was done. Histological examination revealed large, irregular cystic dilatations of vascular spaces, contained proteinous fluid and red cells (). Positive immunohistochemistry (IHC) staining for (D2-40) confirmed the diagnosis of Lymphangioma circumscriptum (LC).
Informed consent was taken from all the patients for publication of their images and Ethical Committee of the Shahid Beheshti University of Medical Sciences approved the study protocol. |
pmc-6635345-1 | Two patients were reported in this study. The first was a 55 yr old man with renal transplant history, who was taken 1000 mg prednisolone daily for one year. He complained of dermatitis lesions and itching with sever hyperkeratosis, several macula and papules on neck and armpits for one-month duration (). The other patient was a 49 yr old male with diabetes mellitus disorder with severe rash, hyperkratosis, and itching over his thigh, buttock and legs (). The patients were referred to Iran-Zamin Medical Diagnostic Laboratory, Ahvaz, Southwest Iran in 2015 for fungal examination. Scraping was performed from lesions of the skin and pathologic slide was prepared with 20% KOH. In microscopic examination presented huge infestation of S. scabiei in all forms of parasite included adult female, nymph stage and eggs ( and ). The first patient’s spouse was also infested by Sarcoptes in mild clinical signs. The disease was diagnosed as Norwegian scabies and the patients were successfully treated with topical ointment of 5% permethrin for two consecutive weeks. |
pmc-6635723-1 | A 77 year old male patient was diagnosed in his local hospital with non-functional NET of the pancreatic tail with liver metastasis and malignant vascular and lymphatic invasions in 2014.
He underwent a resection of the primary pancreatic tumor, accompanied by partial resection of the posterior gastric wall, splenectomy, cholecystectomy and resection of the liver segment IVb. A histological examination demonstrated moderately differentiated NET, stage pT4 pN0 L1, V1, R0, G3 and Ki-67 of 11 %. Multiple postoperative complications, including pancreatic fistula, papillary stenosis, several episodes of pneumonia with pleural effusion, abscess in former spleen site, cardiac arrhythmia and a transient ischemic attack (TIA) led to long-term Intensive care unit admission.
Seven month post-surgery 68gallium DOTATOC PET/CT showed a focal tracer uptake in the liver segment I, without corresponding lesion on CT or MRI. Approximately 2.5 years after, ultrasound exam and MRI demonstrated multiple liver metastasis directly adjacent to the IVC (Figure 1A). In addition, an intense uptake (SUV max: 60.78) was detected on the 68gallium DOTATOC PET/CT, confirming progressive liver metastasis (Figure 2A).
The patient was referred to our hospital for further assessment and treatment. Due to extensive metastasis adjacent to the IVC, high tracer uptake and patient's general condition including history of several post operation complications, cardiac diseases and age, PRRT was recommended by the interdisciplinary tumor board.
The patient was given 4 cycles of 177Lu-DOTATOC with cumulative activity of 28.8 GBq, every 2 months. To prevent nephrotoxicity, an amino acid infusion was given in each cycle. No serious side effects were observed during or after the therapy and laboratory data on kidney and bone marrow function were normal. The scintigraphic control performed after the therapies revealed a good uptake to the lesions.
PET/CT scans 4, 6 and 12 months after the last PRRT cycle revealed further decreasing tracer uptake in liver segment I (SUV max: 7.82) and a very good palliative therapy outcome, in particular with significant reduction of the tumor mass and decompression of the ICV (30.9 x 19.9 mm vs. 18.4 x 8.1 mm) (Figure 2B). Even though the patient did not have cholestasis symptoms, a declining pattern toward normal was observed in gamma-glutamyl transferase (223 vs. 99 U/L) and alkaline phosphatase (195 vs. 145 U/L) serum levels, reflecting improvement in biliary tree drainage one year after the therapy. |
pmc-6635985-1 | An 86 year old retired latina woman with a past medical history of COPD, bronchiectasis, MAI infection (not previously treated), tobacco dependence (40 pack-years, quit 25 years prior to presentation), diabetes mellitus, hyperlipidemia, and hypertension presented with two weeks of worsened dyspnea and non-productive cough. She reported a baseline of daily shortness of breath with an exercise tolerance of 3 blocks, but over the two weeks prior to her presentation it decreased to the point where she would feel dyspneic when walking around her apartment. Interestingly she stated that she also generally felt more short of breath while seated than when lying down, and also cited a worsening cough over this time course productive of green sputum. Her exam on presentation was significant for an oral temperature of 101.4 degrees Fahrenheit, oxygen saturation of 84% on room air, tachypnea and coarse crackles appreciated diffusely on lung examination. Her blood-work was notable for a white blood cell count of 19.8 k/µL, with multiple diffuse small nodular opacities seen on chest x-ray consistent with her known MAI infection. She was started on levofloxacin for treatment of a presumed bronchiectasis flare along with oxygen therapy via nasal cannula in addition to other supportive treatments. Although her fever, leukocytosis, and cough improved with antibiotics (further supporting a diagnosis of bronchiectasis flare), her dyspnea and hypoxemia persisted. Consequently, a chest computerized tomography (CT) scan was ordered which showed the same nodularities seen on chest x-ray, but also elucidated a nodular liver consistent with cirrhosis. While her platelet count, transaminases, bilirubin, and prothrombin time were all normal and she had no ascites or other edema on exam, she did however have spider angiomas. Further chart review done at that time revealed that she had known cirrhotic characteristics on liver imaging as they were incidentally seen almost five years prior, although she had never had any decompensations or serologic evidence of liver dysfunction since. Work-up back then elucidated no potential cause except for non-alcoholic fatty liver disease, given her histories of hyperlipidemia and diabetes. In light of this knowledge gained from deep chart review, the specter of hepatopulmonary syndrome was raised as a possible explanation for her persistent hypoxemia and dyspnea. In order to investigate this possibility, both seated and supine arterial blood gases were obtained which elucidated orthodeoxia (see
). A transthoracic echocardiogram with bubble study was then performed which suggested an intrapulmonary shunt (see
), thereby confirming the diagnosis of HPS. While oxygen supplementation caused her dyspnea to improve and oxygen saturation to rise to a safe level, she interestingly was never able to reach a saturation of 100%. However given this improvement in her dyspnea and oxygenation, as well as the resolution of all signs and manifestations of the bronchiectasis flare that she initially presented with, the patient was discharged home with oxygen. Soon after discharge, she was seen in a pulmonology clinic where she was found to be in stable condition. |
pmc-6635993-1 | A 46-year-old male patient was hospitalized in March 2015 because of bilateral lower extremity edema, and a diagnosis of nephrotic syndrome was made. The patient displayed evidence of chronic bilateral lacrimal gland inflammation, with exophthalmos, tearing, and bulbar conjunctival hyperemia. Laboratory test results are shown in Table . The immunofluorescence assay results from a renal biopsy were as follows: IgA−, IgG+++, IgM++, C1q−, and C3+++; and particle-like deposition was seen along the capillary wall. Light microscopy showed diffuse thickening of the glomerular basement membrane, subepithelial deposition of fuchsinophilic protein, segmental spike formation, vacuolar degeneration of renal tubules, and mild interstitial edema; however, while there was no infiltration of inflammatory cells, thickening of small arterial wall was observed. Electron microscopy showed the proliferation of glomerular mesangial cells and interstitial cells, diffuse and irregular thickening of basement membrane, electron-dense deposits in the subepithelial, intrabasal, and mesangial areas, and diffuse fusion of the foot processes among epithelial cells; however, no specific lesions were seen in renal tubules or the interstitium. All these findings met the diagnostic criteria for stage II MN (Fig. ). While he was hospitalized, his serum creatinine increased progressively, his albumin levels were extremely low, the edema gradually worsened, and his urine output was low. To prevent further deterioration of renal function and secondary thrombosis, we administered prednisone acetate (60 mg/day for 8 weeks, which was then reduced by 5 mg every 4 weeks as the patient’s condition permitted) and cyclophosphamide (0.6 g/month by intravenous injection, to a total of 6 g). After 11 months of treatment, the patient’s condition was completely relieved. The prednisone acetate and cyclophosphamide were discontinued, and irbesartan was administered as maintenance therapy.
In August 2016, the patient was re-hospitalized because of nephrotic syndrome recurrence, accompanied by AKI. The results of relevant tests are shown in Table . Considering that AKI is seldom caused by MN, we performed another renal biopsy. Immunofluorescence assay results were as follows: IgA−, IgG+++, IgM++, C1q−, and C3+++, and mass- and particle-like depositions were seen along the mesangial area and capillary wall. Light microscopy showed the mildly diffuse proliferation of glomerular mesangial cells and interstitial cells, moderate aggravation of focal segmental lesions, diffuse thickening of basement membrane (together with diffuse spike formation), subepithelial deposition of fuchsinophilic protein, vacuolar and granular degeneration of renal tubular epithelial cells, multifocal loss of brush border, dilation of the renal tubules, multifocal atrophy, diffuse infiltration of lymphocytes, monocytes, plasma cells in the renal interstitium, multifocal fibrosis, and thickening of small arterial walls. Electron microscopy showed the proliferation of glomerular mesangial cells and interstitial cells, diffuse and irregular thickening of basement membrane, electron-dense deposits in the subepithelial, intrabasal, subendothelial, and mesangial areas, diffuse fusion of the foot processes among epithelial cells, detachment and partial atrophy of the microvilli of renal tubular epithelial cells as well as edema, infiltration of lymphocytes/monocytes, and fibrosis in the renal interstitium. Immunohistochemistry revealed CD38+, CD138+, IgG+, and IgG4+ cells (approximately 30% of IgG+ cells) (Fig. ). Based on the immunohistochemical findings, clinical manifestations, and exclusion of other secondary factors, a diagnosis of IgG4-TIN accompanied by MN was made.
The patient had acute kidney injury and was in critical condition. Prednisone acetate and cyclophosphamide were administered in accordance with the previous treatment regimen. A further 6 g of cyclophosphamide was then administered (to a total of 12 g), and prednisone acetate was continued at 10 mg/day for maintenance. His renal function returned to normal after 2 months, and nephrotic syndrome was ameliorated after 5 months. The patient has been closely followed-up to date (Fig. ). |
pmc-6635997-1 | In July 2018, a 43-year-old female patient presented to our clinic with the complaint of a mass and pain in her left breast. No significant signs were observed in her past medical and family histories. MRI revealed several masses on her left nipple, the lateral quadrant of the left breast, and the outer upper quadrant of the left breast. No palpable mass was detected in the other breast or axillae. Hence, a tru-cut biopsy was performed.
The biopsy pathology revealed a solid, deep dermal and superficial subcutaneous mass consisting of relatively bland spindled cells with eosinophilic cytoplasm and moderately enlarged and hyperchromatic nuclei. Atypia and mitotic figures were inconspicuous. Acute and chronic inflammatory cells were present throughout the lesion; in particular, the stroma contained prominent neutrophil infiltration (Fig. a).
The cells of interest were immunoreactive for AE1/AE3 (AE1/AE3, dilution 1:400; Gene Tech) and negative for SMA (1A4, dilution 1:1600; Gene Tech), Desmin (D33, dilution 1:200; Gene Tech), CD34 (QBEnd10, dilution 1:800; Gene Tech), ALK1 (ALK1, dilution 1:200; DAKO), S100 (2A10, dilution 1:400; IBL), β-catenin (E247, dilution 1:400; Gene Tech), and P63 (4A4, dilution 1:1000; Gene Tech). The Ki-67 (MIB-1, dilution 1:30; Biogenex) score demonstrated a low proliferation rate of tumor cells (1/10 HPF). The initial diagnosis was metaplastic carcinoma of the breast with no lymph node metastasis. Biomarker assessment revealed a triple-negative status. ER (SP1, dilution 1:1; Roche), PR (1E2, dilution 1:1; Roche) and c-erb-B2 (4b5, dilution 1:500; Ventana) were all negative. Total mastectomy was performed. The pathology was essentially the same as in the previous study, except for focal myxoid changes in the matrix. Moreover, the tumor cells exhibited a prominent epithelioid cytomorphology with a striking resemblance to rhabdomyoblasts (Fig. b). Therefore, more immunohistochemical analyses were performed, including for CD31 (JC70A, dilution 1:400; Gene Tech), FLi-1 (MRQ-1, dilution 1:100; ZATA), ERG (EPR3864, dilution 1:200; ZATA), INI-1 (25, dilution 1:200; ZATA), and FOSB (5G4, dilution 1:100; Cell Signaling Technology) (Fig. ). AE1/AE3 analysis was repeated. The tumor cells were strongly and diffusely positive for AE1/AE3, FLi-1, ERG and FOSB. In situ hybridization for TFE3 (Z-2109-50; ZytoVision) and c-Myc (05 J91–001; Abbott-Vysis) was also performed. Most of the cells were also positive for CD31, with a linear membranous pattern. The neoplastic cells maintained intact expression of INI-1. FISH results were negative for c-Myc amplification and for TFE3 translocation, which ruled out epithelioid angiosarcoma (EAS) and epithelioid hemangioendotheliomas (EHEs). This immunophenotype supported the vascular nature of the neoplasm in tissue and the final diagnosis of PHE/ESH was made. Furthermore, tumor cell embolus and multiple lesions were found, and lactation surgery was not considered (Fig. ). |
pmc-6636014-1 | A previously healthy 5-year-old boy was admitted to the hospital. He was a full-term baby delivered via vaginal sections following a normal 39-week pregnancy with unremarkable events. He did not require support services after birth and had no family history of epilepsy. The child had normal development, including expressive and receptive language, at the appropriate time.
This patient had initial seizures during sleep at the age of 1 year, with the left mouth pouting, left eye blinking and drooling for several seconds, and, sometimes, left upper-limb flexion and head version to the left, lasting for 1–2 min. Electroencephalography (EEG) showed rolandic cortex discharges, with 40% SWI. The regimens of valproate 0.25 bid, lamotrigine 25 mg bid, and clonazepam 0.5 mg bid were administered, and consequently, the frequency of seizures reduced.
However, in August 2016, clinical deterioration with extra manifestations, including continuous drooling, dysarthria, and expressive language impairments, occurred, in accordance with the ESES presentation of EEG (i.e., SWI > 85%). As a result, steroids [methylprednisolone (MPN): 10 mg/(kg · d) for 3 days, followed by 5 mg/(kg · d) for 3 days] and intravenous immunoglobulin [IVIG; 1 g/(kg · d) for 2 days], followed by oral prednisone (starting with the initial dose of 2 mg/kg, lasting for 1 or 3 months, and then tailed off) were provided to the patient in the later serial sessions, with the same antiepileptic drugs regimen as earlier. He was relieved with no seizure and drooling. Improvement in language ability was observed, but the patient had a recurrence after prednisone was tailed off every 4–5 months.
Therefore, since August 2017, the serial real-time TCD-SDvEEG monitoring was carried out. The outcomes of the stable transcranial Doppler ultrasound (TCD) tracings and the corresponding EEGs in the following serial relief-and-relapse sessions are shown in Fig. a–d.
Specifically, in August 2017, the patient experienced similar recurrent types of seizures, drooling, and dysarthria, with involuntary movements of the face for about 10 days (Fig. a). The real-time serial TCD-vEEG monitoring was then applied as previously described []. The trends in lack of CBFV variation and obvious range of CBFV fluctuation (more than 35%) were found during all non-rapid eye movement (NREM) sleep stages (Fig. a; TCD), in accordance with the corresponding EEG with 95% SWI (Fig. a; EEG). Interestingly, after administering steroids and IVIG, the outcomes of TCD tracing (Fig. b; TCD) returned to nearly normal levels [], consistent with the resolution of clinical symptoms (Fig. b). Moreover, the range of CBFV fluctuation also alleviated with the changes in spikes, despite no changes in SWI (95%) (Fig. b; EEG). Unfortunately, 1 week after prednisone withdrawal (October 09, 2017), the symptoms relapsed, in keeping with the deterioration of TCD tracing (Fig. c; TCD), although the ESES status still showed no suppression compared with the last session (Fig. 1c; EEG). Because of repeated recurrence, the long-term steroid regimen was provided with methylprednisolone [10 mg/(kg · d) for 3 days, followed by 5 mg/(kg · d) for 3 days], followed by the long-term oral prednisone maintenance.
Specifically, after 1 month of oral administration of prednisone at a dose of 2 mg/kg, the improvements in clinical symptoms (Fig. d), decrease in SWI (40%) (Fig. d; EEG), and parallel changes in hemodynamics (Fig. d; TCD) were observed. |
pmc-6636037-1 | A 14-year-old Madhesi boy presented with a swelling in the left side of his neck for 2 years (Fig. ). The swelling was insidious in onset and gradually increasing in size. There was no significant past medical or surgical history. He did not smoke tobacco. He was a student. He was not on any medications. There was no family history of any genetic diseases or malignancy.
On examination, a single swelling of approximately 5 cm × 4 cm in size was located in the posterior triangle on the left side of his neck. The swelling was mobile, non-tender, and firm in consistency. The rest of the head and neck examination was normal. On neurological examination, he had normal muscle strength, no sensory deficits, no pathological reflexes, and no long tract signs. Magnetic resonance imaging showed a well-defined T1-weighted isointense and T2-weighted hyperintense ovoid cystic mass with enhancing solid component within, measuring 6 × 4.5 × 2.5 cm involving the left posterior cervical space with extension into left C5–C6 neural foramina causing its widening. The mass was displacing the carotid space anteromedially. It was also abutting the posterior border of left sternocleidomastoid muscle causing its displacement anteriorly. Inferiorly, the mass extended into the left supraclavicular region (Fig. ). His vital sign were stable. He was afebrile, pulse was regular and 80/minute, blood pressure was 110/80 mmHg, and respiratory rate was 14/minute.
No other clinical or radiological features of neurofibromatosis such as light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves (neuromas), scoliosis, hearing loss, cataracts at a young age, balance problems, flesh-colored skin flaps, muscle wasting, vestibular schwannoma, meningioma, glioma, neurofibroma, or posterior subcapsular lenticular opacities were seen.
The total leukocyte count and peripheral blood smear were normal. Urinary catecholamines level was normal. Fine-needle aspiration cytology of the swelling was done. The findings were consistent with schwannoma. An excision of our patient’s schwannoma was planned. A supraclavicular incision was made and subplatysmal flaps were elevated both superiorly and inferiorly. The sternocleidomastoid muscle was retracted medially and the tumor was excised completely. Although this extradural tumor extended through C5–C6 foramina, a laminectomy was not needed. The tumor was pulled out through the foramina (Figs. and ). His postoperative course was uneventful and he was discharged on sixth postoperative day without any change of neurological status. Neither any neurological complications nor any recurrence were seen in our patient after 1 year of follow-up (Fig. ).
Histopathological findings were consistent with the diagnosis of schwannoma. Microscopic examination of the specimen revealed tissue surrounded by fibrous capsule. The tumor tissue showed predominantly cellular (Antoni A) admixed with hypocellular areas (Antoni B). Antoni A areas consisted of compact spindle cells having prominent nuclei. The nuclei were arranged in a palisading pattern (Fig. ). |
pmc-6636042-1 | In 2015, a 46-year-old woman presented to the Department of Oral and Maxillofacial Surgery of Tokai University Oiso Hospital, Kanagawa, Japan, with the complaint of gradually moving mandibular teeth (for 6 months) and changing facial appearance. She had been referred by her family dentist, who had noticed the early stages of mandibular bone loss 9 years prior. She had received no treatment other than periodontal therapy performed by her dentist.
The patient was the youngest of two children. Her mother and father were 32 and 36 years old, respectively, at the time of her birth. Her father died in an accident at the age of 40. Her sister did not exhibit similar symptoms or present with facial malformation.
Birth weight and intelligence level were normal. The patient’s history was remarkable for 10 episodes of bacterial meningitis, which occurred between 31 and 39 years of age. She was premenopausal at presentation.
We consulted an orthopedic surgeon and genetic physician with the intent of performing a comprehensive screening for systemic disorders. Upon skeletal examination, there were no abnormal findings outside of the oral and maxillofacial area; the patient had a height of 157 cm and bone mineral density (according to dual energy x-ray absorptiometry) of 90%. Results of blood and urine tests for bone metabolism markers, including calcium (9.8 mg/dL), phosphorous (4.4 mg/dL), alkaline phosphatase (284 IU), 25-OH-Vitamin D (55 pg/mL), and collagen cross-linked N-telopeptide (18.4 nmol), as well as neurological and cardiovascular examinations, were normal.
Extraoral examination revealed mandibular hypoplasia but no asymmetry (Fig. a). Intraoral examination revealed an anterior open bite (inter-incisor distance: 23 mm) and no crowding of the mandibular teeth. There were no abnormal findings pertaining to the oral mucosa (Fig. b).
Posteroanterior and lateral radiographs of the skull did not reveal any abnormal morphology of the head or facial height and width (Fig. a). Panoramic radiographic images and computed tomography scans showed axial and coronal thinning of the alveolar bone, anterior wall of the maxillary sinus in the maxilla, and the entire mandibular (condyle, angle, body, and alveolar) bone (Figs. b and ). Magnetic resonance imaging did not show any soft tissue masses in the maxillofacial area (data not shown). Technetium (99mTc) bone scintigraphy showed tracer uptake in the maxillary and mandibular bones (Fig. ).
Genomic DNA was extracted from 100 μL of whole blood from the patient and her mother (as a negative control) using the DNeasy Blood & Tissue Kit (Qiagen, Hilden, Germany) following the manufacturer’s recommendations. Initial DNA sample quality assessment, library preparation, and sequencing were conducted by GENEWIZ, Inc. (South Plainfield, NJ, USA). The SureSelectXT Target Enrichment System for Illumina Paired-End Multiplexed Sequencing Library and SureSelect Human All Exon V6 bait library (Agilent, Santa Clara, CA, USA) were used for target enrichment and DNA library preparation following the manufacturer’s recommendations.
The sequencing library was loaded onto an Illumina HiSeq instrument (San Diego, CA, USA) according to the manufacturer’s instructions. Raw sequence data (.bcl files) generated from the Illumina HiSeq instrument were converted into fastq files and de-multiplexed using bcl2fastq software 2.17 (Illumina). One mismatch was allowed for index sequence identification. The data of whole exome sequence was assigned on The DNA Data Bank of Japan Center (NBDC number: hum0190) [].
The average coverage depth of the entire panel was 137×, and 99.9% of targeted bases were covered by sequence reads at a depth of at least 20 × .
Sequence reads were aligned using BWA (version 0.7.12) [doi:10.1093/bioinformatics/btp324]. Local realignment and base quality recalibration was performed using GATK (version 3.5) [doi: 10.1101/g.107524.110]. Variant calling was performed with SAMtools (version 1.3.1) [] []. Variants were annotated using the ANNOVAR tool [doi: 10.1093/nar/gkq603].
Only non-synonymous sequence differences between the mother and patient in the sequenced genes were analyzed. Candidate gene sequencing revealed 83 heterozygous variants in 79 genes, which were confirmed by Sanger sequencing (Table ). These single-nucleotide variants (SNVs) were not present in any of the queried population databases [(Integrative Japanese Genome Variation Databas (iJGVD), The International Genome Sample Resource and Providing ongoing support for the 1000 Genomes Project data (1000 Genomes), The Exome Aggregation Consortium (ExAC), snp138, Human Genetic Variation Database (HGVD), and The Genome Aggregation Database (gnomAD)]. Among the 83 heterozygous variants, 12 SNVs in 11 genes (AHNAK, CCDC15, COBL, DCAF5, MCF2L, NSRP1, NSRP1, PCNT, RMDN3, and TTYH2) were considered to be “probably damaging” according to Polymorphism Phenotyping v2 (PolyPhen-2) () and Combined Annotation Dependent Depletion (CADD) []. These databases predict the potential effect of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations [].
The 11 genes with probably damaging SNVs were analyzed using the Genecards® human gene database version 4.5 []. AHNAK may be involved in diverse processes such as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis []. COBL may play a role in maintaining intestinal homeostasis []. NSRP1 is an mRNA binding protein that has not been associated with any clinical features []. The molecular and clinical functions of CCDC15, DCAF5, and RMDN3 have not been clarified according to Genecards®. MCF2L is related to the Rho/Rac signaling pathways, which play key roles in cell proliferation, migration, and motility, including in cancer metastasis []. Among the 11 genes, only PCNT is expressed in the cortex and skeletal muscle. We speculate that the PCNT variant (chr21 47783755: NM_006031, exon14, c.2515 T > C, p.839C > R; NM_001315529, exon 14, c.2161 T > C, p.721C > R) in the patient may affect the cell division of osteoblasts or osteoclasts and bone homeostasis in the oral and maxillofacial area. This differs from the result of PCNT-null disorders (Fig. a). Thus, we considered PCNT a candidate gene for this disorder because of its high mRNA expression in the cortex and skeletal muscle and the lack of clinical reports for AHNAK, CCDC15, COBL, DCAF5, MCF2L, NSRP1, NSRP1, RMDN3, and TTYH2. Notably, p.C721R/p.C839R of PCNT has not yet been reported as a candidate variant for skeletal disorders in the Nosology and Classification of Genetic Skeletal Disorders, which serves as a “master” list of genetic disorders of the skeleton to facilitate diagnosis and to help delineate variants or newly recognized conditions [].
Because this osteolytic disorder had not been previously reported and no specific treatment was indicated, the patient was placed under observation with periodontal maintenance. No progression has been noted in the 2.5 years since diagnosis. |
pmc-6636044-1 | A 65-years old previously fit and well Caucasian male patient presented to a small district general hospital with a 3 weeks history of recurrent rigors, fevers and night sweats. He was found to have kidney injury and thrombocytopenia. The whole-body CT (computed tomography) scan revealed in the retroperitoneal space a lesion measuring approx. 13x8x8cm (Fig. ). The patient was referred to our hospital for further evaluation and treatment. At presentation, blood biochemistry showed low platelets (55 × 109/L, reference range (ref.) 150–400), low white blood cells (3.2 × 109/L, ref. 4.0–10.0) with lymphocytopenia (0.47 × 109/l, ref. 0.8–4.0). The liver enzymes were elevated, too (Alanine Aminotransferase 1.16μkat/l, ref. < 0.73; Aspartate Aminotransferase 3.56μkat/l, ref. < 0.67) and albumin was low (21.9 g/l, ref. 35.0–53.0). The patient underwent explorative laparotomy, which revealed a tumor in mesocolon ascendens invading radix mesenterii. A surgical biopsy was performed. Few days later, he developed progressive pancytopenia, coagulopathy (fibrinogen 0,7 g/l) and his serum C-reactive protein concentration increased (140 mg/l). The patient was readmitted to the intensive care unit and treated with platelet transfusions, fibrinogen, prothrombin complex concentrates and broad-spectrum antibiotics. Despite all these measures, he developed multi-organ failure with dominant liver failure (Aspartate aminotransferase 18.64 μkat/l, ref. < 0.67; Bilirubin 158.4 μmol/l, ref. < 21.0) and refractory shock. He died 22 days after the initial presentation. At the time of death, the underlying disease leading to death was not known. An autopsy was performed.
Two formalin-fixed adipose tissue fragments with the size of 16x8x4 mm and 12x7x3 mm were sent to the Department of Pathology. Microscopically, we saw adult fat tissue with dense lymphocytic infiltration. The lymphocytic infiltration consisted mostly of small- to medium-sized cells with hyperchromatic irregular nuclei with little rim of pale cytoplasm. There was a pattern of isolated adipocytes surrounded by a dense rim of hyperchromatic lymphocytes (Fig. ). We also found necrotic adipocytes and reactive macrophages phagocytizing lymphocytes and erythrocytes. Immunohistochemically, the atypical cells rimming the adipocytes stained for CD45(LCA), CD2, CD3, CD5, CD7, CD8, granzyme B, perforin, TIA1 and TCRβF1 and did not stain for CD4, CD20, CD79a, CD56, CD30, EBER, CD1a, S100, myeloperoxidase, cytokeratin CAM5.2 and TCRγ. The proliferation index Ki67 varied between 10 and 50% (Fig. ).
Genomic deoxyribonucleic acid (DNA) from formalin-fixed paraffin-embedded (FFPE) tissue section was isolated using the QIAamp DNA FFPE Tissue Kit (Qiagen GmbH, Hilden, Germany). The clonality of the TCR rearrangements (TCR β, γ and δ) were tested using standardized multiplex polymerase chain reaction (PCR), as described by the BIOMED2 study group []. The clonality of the PCR products was assessed using an Agilent 2100 Bioanalyzer (Agilent Technologies, Santa Clara, CA, USA), with detection of clonal rearrangement of TCR-γ. Tests for clonal rearrangement in TCR-β and TCR-δ were negative.
Based on these morphological, immunohistochemical and molecular findings, we diagnosed panniculitic T-cell lymphoma with morphological and immunohistochemical features of SPTCL.
During outer inspection we found yellowish color of entire skin and cutaneous suffusions in the abdominal and genital regions. During the inner inspection, there was a thickened, firm, whitish area approx. 12x10x10 cm in the mesocolon ascendens. Intestine and mesenteric lymph nodes were unremarkable. Spleen was enlarged (470 g) and of soft consistency without focal lesions. Liver (2100 g) had a blunt margin, soft consistency and yellow cut surface. Other organs were unremarkable on gross examination. We collected samples for histopathological examination. We specifically and thoroughly examined subcutaneous adipose tissue and looked for any signs of a tumor. We have only found superficial reddish spots that were also sampled for microscopy.
Histopathological examination of mesenterial fat tissue revealed similar findings to those described above in the biopsy: adult fat tissue with atypical hyperchromatic lymphoid cells rimming the adipocytes, with macrophages engulfing whole lymphocytes and erythrocytes (Fig. c). In the spleen there was marked activation of red pulp with abundant histiocytes but no signs of infiltration by lymphoma. The bone marrow had cellularity about 50%, with trilinear hematopoiesis, with admixture of macrophages with signs of hemophagocytosis of lymphocytes and red blood cells (Fig. a). The immunohistochemistry of the vertebral bone marrow showed focal infiltration of CD8+ lymphocytes rimming the adipocytes; the finding is highly suspect from presence of lymphoma cells in the bone marrow (Fig. b). Liver tissue showed marked steatosis with cholestatic features (Fig. d), but no signs of lymphoma (Fig. e). Histopathological examination of the other organs, including abdominal skin and subcutaneous fat tissue (Fig. f), was unremarkable.
The autopsy determined the underlying disease as T-cell lymphoma with cytotoxic phenotype, with morphological and immunohistochemical features of SPTCL, associated with signs of hemophagocytic syndrome (clinical findings of fever, bicytopenia and hypofibrinogenemia, autoptic finding of enlarged liver and spleen and histiocytic hemophagocytosis of lymphocytes and red blood cells), probably leading to patients death due to multiorgan failure, in line with reported clinical features. |
pmc-6636068-1 | A 5-year-old female patient visited our department on June 28, 2016 with a complaint of vision loss in the right eye for 6 months. The child was born at full-term by normal vaginal delivery and had no other relevant medical history, except for having contact with pets. There were no abnormal findings in the general physical examination. To be precise, her head size, facial appearance, or other significant indicators of the development of central nervous system were at the same level with normal children of the same age. Best corrected visual acuity (BCVA) was hand motion in the right eye (RE) and 0.8 in the left eye (LE). Intraocular pressure, measured by non-contact tonometer, was 15 mmHg and 14 mmHg in the RE and LE, respectively. A 20 prism dioptres esotropia was observed in the RE. Examination of the anterior segment was unremarkable and both lenses were transparent. During the initial fundus examination, we observed vitreous opacities and scattered hemorrhages distributed in the inferior peripheral portion. A grayish white retina at the posterior pole (Fig. a) and a few striped retinal folds at the temporal side could be vaguely seen (Fig. b). The LE did not present any distinct abnormalities (Fig. c).
In addition, a B-ultrasound scan showed a distinct depression at the optic disc that was filled with unidentified substance. Hyperechoic peripapillary membrane elevation was observed adjacent to the depression (Fig. a). Cranial MRI scans illustrated irregular thickening of the right ocular wall and mild microphthalmia of the RE (Fig. a). This corresponded to the axial length of both eyes (19.69 mm in the RE and 21.20 mm in the LE) measured by B-ultrasound scans (Fig. a, b). It appeared that the right optic nerve was thinner than normal, but no abnormal signal was detected in orbits or brain (Fig. a, b, c). These results suggested a possible dysplasia in the right eye and the right optic nerve.
To relief retinal detachment (RD) as well as to prevent the exacerbation of vision loss and eyeball atrophy, the patient underwent pars plana vitrectomy (PPV) on July 26, 2016. During the surgery, we found that a stalk arose from the optic disc and adhered to the peripheral retina and the vitreous proliferated along the Cloquet’s canal. Retinal folds arising from the optic disc and proliferative membranes were also found. Numerous fibrous membranes and the stalk were removed. Subsequently, we drained the subretinal fluid by a drainage retinotomy as no retinal break was seen. This was followed by endolaser photocoagulation surrounding the site of retinotomy, complete air-fluid exchange, and silicone oil tamponade. There was still some subretinal fluid and funds structures were unrecognizable as MGS at that time.
The fundus became clearer as the subretinal fluid was absorbed over time. At the second visit, over a month after the surgery on September 13, 2016, the visual acuity of the RE improved from hand motion to counting fingers and could not be corrected with glasses. The right fundus resembled a morning glory disc with signs of PFV (Fig. a, b, c). The optic disc markedly enlarged to 4–5 PD in diameter. The deep depression in the optic disc was covered by a tuft of white glial tissue. Approximately 20 retinal vessels with differing widths radiated from the border of the white glial tissue into the peripheral retina. Arteries were difficult to differentiate from veins. Surrounding the optic disc was a wide circular yellowish-white to grayish-black eminence with pigment granules. Outside the eminence was a concentric retinochoroid atrophy ring extending into the macula. Striped retinal folds arose from the posterior pole and continued into temporal peripheral retina.
On November 21, 2016, the patient returned 4 months post operation. Fundus fluorescein angiography (FFA) showed that the diameter of the right optic disc was about three times the normal size (Fig. a, b). The optic disc was hypofluorescent in the early phase. However, there was irregular late hyperfluorescence at the center and the edge of the optic disc and numerous vessels emanated from superotemporal and inferonasal margin of the disc (Fig. a, b). Optical coherence tomography (OCT) exhibited a funnel-shaped excavation at the center of the optic disc (Fig. a) with a small amount of preoperative subretinal fluid at the margin (Fig. b), and reattachment of peripheral retina (Fig. c).
When she visited us last November, 2 years after the surgery, the visual acuity was the same and there was no exacerbation of atrophy. OCT showed a bit of subretinal fluid in supratemporal parapapillary retina. There was no obvious retinal detachment in the rest of the retina and the retinal hole we made during the surgery was surrounded by laser spots. Her parents refused the second surgery considering that the right eye was stable. Beyond that, we observed some emulsified silicone oil in the anterior chamber, but not much. |
pmc-6636119-1 | Our patient was a 41-year-old Japanese man who had had occasional discomfort in the right knee since elementary school. He had no pain at rest, but he experienced occasional pain when moving the knee. The pain had made it difficult for him to sit on his heels (Japanese seiza position) for the past year. Although he had undergone radiography and MRI examinations at several hospitals since childhood, no issues were reported; subsequently, he consulted our hospital.
At the time of his consultation, physical examination showed mild swelling and a loss of range of motion. The active range of motion of the knee was 30 degrees of extension and 120 degrees of flexion, improving to 10 degrees of extension when relaxed in a recumbent position. He had no instability of the knee. He had an intense fear of a sensation that something was caught in his knee joint. Blood test results were unremarkable. There was no tenderness at the femorotibial (FT) joint level. However, he complained of discomfort proximally, near the patellofemoral (PF) joint to the medial pouch. Careful palpation revealed an elastic soft tissue mass measuring about 3 cm. When his lower leg was hanging down while he was in a seated position, the blood vessels centered on this area became engorged.
X-rays showed no obvious findings. MRI showed a mass measuring about 40 × 12 × 15 mm (Fig. a, b, ovals). The mass was homogeneous with a low intensity on T1-weighted sequences and high intensity on T2-weighted sequences adjacent to the medial femoral condyle. The shape of the medial femoral condyle presented with a concavity in axial images, with irregular margins from the PF to the medial femoral condyle. There were no abnormal signals in the intraosseous tissue. Suspecting a hemangioma, we performed MRA of the patient’s leg. The results showed a hyperintense region on the medial side of the knee joint, consistent with that seen on an MRI scan (Fig. , circle). Moreover, another hyperintense region measuring about 2 cm was also observed near the lateral femoral condyle (Fig. , arrowhead) and was suspected to be an extra-articular hemangioma. All evidence suggested intermediate-type hemangioma.
We performed surgery with the patient under general anesthesia. When his lower leg was hanging down on an operating table, remarkable engorgement of the blood vessels was observed. Arthroscopic examination was performed to confirm the nature, location, and extent of the mass (Fig. ). The findings revealed a soft tissue mass that had grown from the PF to the medial pouch; the mass had spread from the medial epicondyle to the medial articular surface and was pinched by extension of the knee. The hyperintense region revealed by MRA was found at the lateral femoral condyle. There was no damage to the meniscus. A small incision to the lateral mass for subcutaneous access revealed a multilocular soft tissue mass measuring about 2 cm penetrating through the fascia of the vastus lateralis; the mass had the obvious appearance of a hemangioma. Because some of the engorged blood vessels were connected to the joint, we added an incision into the articular capsule. The mass infiltrated the synovial wall of the suprapatellar pouch; thus, the mass, measuring about 20 × 18 × 10 mm, was excised en bloc. On the basis of a report of synovial hemangioma occurring outside the knee joint [], our patient’s case was considered to be a synovial hemangioma of the intermediate type originating from the intra-articular synovia, which was connected from the intra-articular region to the extra-articular region. With regard to the medial mass, because of its very large size, we decided to perform open surgery and visually identified the mass. The size of the mass was about 40 × 16 × 7 mm, and it spanned from the medial epicondyle to the medial articular surface. A part of the mass was attached to the cortex of the medial femoral condyle. We detached the mass from the bone surface and excised it. Upon resection, the medial condyle was observed to be dimpled with the shape of a crater (Fig. ). The spread of the mass suggested a diffuse-type synovial hemangioma. Under direct observation, we performed complete hemostasis and sutured each layer. Histopathological diagnosis indicated a hemangioma originating from the synovial membrane or subsynovial connective tissue, as well as irregular arteriovenous connections (Fig. ). Ultimately, the diagnosis of this patient was a diffused intermediate-type synovial hemangioma. The patient became asymptomatic after surgery, with no recurrence for more than 4 years. |
pmc-6636154-1 | A 37-year-old Panamanian female patient without a pre-existing medical history, was diagnosed with a stage IIIB mammary ductal carcinoma (cT4N0M0), positive estrogen receptors (ER-positive), negative progesterone receptors (PR-negative) in her right breast in 2013, for which she received four cycles of doxorubicin (cumulative dose 240 mg/m2) and cyclophosphamide from January to March 2013, followed by paclitaxel from April to June. An electrocardiogram (Fig. ) and chest radiography done prior to chemotherapy revealed no cardiac alterations. In July 2013 the patient underwent mastectomy, with subsequent radiation therapy (45 Gy in 25 fractions).
Two years later, she was admitted to the hospital emergency department with 10 days history of orthopnea, swelling of her arms and legs, bendopnea, and fatigue. An echocardiogram was ordered, showing a reduced left ventricular systolic function (LVEF 25%). The diagnosis of anthracyclines induced cardiomyopathy was established. She was treated with a beta-blocker, diuretics and antihypertensives. After two weeks, she showed a significant improvement of her symptoms, with a LVEF of 45%. A year later, her 38-year-old brother was admitted to the hospital with a clinical presentation characterized by swelling of his legs, fatigue and minimum effort dyspnea, a left ventricular internal diameter in diastole (LVIDd) of 7.52 cm, with a LVEF of 20%. This clinical event prompted us to consider whether our patient had a genetic predisposition for DCM, and thus we performed a complete pedigree analysis of the proband (Fig. and Additional file : Figure S1) that showed the presence of several DCM cases in the family.
In order to establish the genetic mutation responsible for the familial DCM, genomic DNA was extracted from whole-blood samples of the proband, and her brother, using a Masterpure DNA purification kit following the manufacturer’s protocol, and untargeted whole exome sequencing (WES) assessment was performed. Briefly, DNA samples were amplified prior to exome library preparation by means of GenomiPhi V3 DNA Amplification Kit. Exome libraries of the selected individuals were prepared from amplified DNA using an Illumina Nextera Rapid Capture Exome kit (version 1.1, 37 Mb). Genomic DNA was then tagmented, and amplified using polymerase chain reaction amplification (PCR); regions of interest (exons) were captured by hybridization to specific probes followed by a cycle of PCR amplification. The sequencing step was performed on an Illumina HiSeq 2500 platform, targeting for 100 bp pair-end reads, and a mean sequencing coverage average above 80x. The clinically relevant variant was subsequently confirmed by means of Sanger sequencing. The genetic investigations revealed the presence of a LMNA-p.Arg190Trp (NM_170707.3:c.568C > T) missense variant. |
pmc-6636443-1 | A 59-year-old hospitalized female with multiple comorbidities on chronic immunosuppressive therapy (cyclophosphamide and prednisone) for management of Goodpasture syndrome experienced sudden onset large volume hematochezia and hemodynamic instability. Her past medical history is also significant for end stage renal disease on hemodialysis, diabetes mellitus, and anemia of chronic disease. After stabilization with fluid resuscitation and blood transfusion, a technetium labeled red blood cell scan failed to demonstrate evidence of extravascular accumulation and active gastrointestinal bleed. An initial colonoscopy revealed a nonbleeding rectal ulcer with evidence of diverticulosis.
One week later, the patient presented in hemorrhagic shock due to massive bright red blood per rectum requiring emergent blood product transfusion. Her systolic blood pressure was less than 90 mmHg. Her heart rate was greater than 150 beats per minute. Laboratory findings demonstrated a hemoglobin decline from 8 g/dL to 5 g/dL (normal, 11.7-15.7). Her platelets were reported as 120 × 109/L (normal, 150-440). Physical exam findings were significant for a large amount of bright red blood per rectum with passing of multiple large dark clots. She was given intravenous fluids and thirteen units of blood products with minimal improvement in hemodynamics. Mesenteric arteriography revealed active extravasation in the rectum. She underwent successful Gelfoam embolization ().
Follow-up colonoscopy demonstrated a single, pulsatile, visible artery protruding from the rectal mucosa consistent with DL. Mechanical hemostasis was achieved with an epinephrine injection and two hemoclips. A tattoo was placed near the lesion for future identification (). The patient experienced no further hematochezia for the remainder of her hospitalization and through a two-month follow-up. |
pmc-6636445-1 | A 64-year-old Caucasian woman presented at an outside hospital in March 2009 with shortness of breath two days after undergoing laparoscopic cholecystectomy forcholedocholithiasis. A chest radiograph demonstrated bibasilar and left upper lobe pulmonary opacities. Computed tomography (CT) of the chest revealed mediastinal and right supraclavicular lymphadenopathy, with right basilar and upper lobe consolidation, but no evidence of pulmonary embolism. She was diagnosed with postoperative pneumonia and discharged with oral antibiotics.
A follow-up CT chest in July 2009 demonstrated the continuing presence of right supraclavicular lymphadenopathy, now measuring 3 cm, and additional 1.5 cm lymph nodes in the pretracheal and subcarinal regions. The patient underwent an excisional lymph node biopsy on July 24, 2009, that revealed replacement of the lymph node by highly pleomorphic cells with prominent nucleoli and abundant cytoplasm, suggestive of high-grade metastatic carcinoma (). Immunohistochemical evaluation showed that 100% of the cells were positive for cytokeratin (CK) () but negative for CK7, CK20, thyroid transcription factor-1 (TTF-1), melanoma antigen (Melan-A), CD30, and leukocyte common antigen. A few cells were positive for S100. There was no positive nuclear staining reaction for the estrogen or progesterone receptors in any of the tumor cells. In the absence of morphologic or histochemical features to identify a primary site, a positron emission tomography (PET)/CT was performed. This revealed right lower cervical and right supraclavicular lymphadenopathy with intense hypermetabolism and moderate hypermetabolic activity in the right peritracheal and precarinal lymph nodes. Increased fluorodeoxyglucose (FDG) uptake in the region of the left lateral oropharyngeal wall and base of the tongue without definite CT correlation was also noted. In addition, heterogenous uptake in the marrow of the axial and proximal appendicular skeleton without correlation on bone windows was noted. Clinically, the patient denied any localizing or systemic symptoms of malignancy. She was a nonsmoker with minimal alcohol intake. Endoscopic evaluation of her upper airways and breast magnetic resonance imaging (MRI) were unrevealing for a primary site.
The patient was diagnosed with carcinoma of unknown primary and was prescribed 4 cycles of carboplatin and paclitaxel, which was completed in February 2010. She was then switched to maintenance erlotinib in May 2010. Six days after initiation of erlotinib, the patient presented with jaundice and passage of dark red urine. Laboratory studies revealed hemoglobin (Hgb) of 7.1 g/dL (range: 12.0–16.0 g/dL), platelet count of 92 × 103/μL (range: 150–450 × 103/μL), total bilirubin of 5.0 mg/dL (range: 0.2–1.0 mg/dL), and elevated liver enzymes and lactate dehydrogenase of 2,546 U/L (range: 81–234 U/L). The direct antiglobulin (Coomb's) test was negative. Urinalysis revealed a large amount of blood with zero RBC/hpf. The patient was started on prednisone 1 mg/kg for presumed erlotinib-induced hemolytic anemia. Bone marrow biopsy revealed a mildly hypercellular bone marrow with erythroid hyperplasia. The dose of erlotinib was reduced to 100 mg daily with waxing and waning of her hemolytic symptoms despite ongoing treatment with prednisone. Erlotinib was discontinued in July 2010, and the prednisone dose was tapered beginning in October 2010. In November 2010, the patient presented again with hemolytic anemia that failed to respond to high-dose prednisone. She was referred to our institution for further evaluation of her hemolysis.
She reported multiple episodes of intermittent coffee color urine in the preceding years, which resolved spontaneously. Urinalysis revealed 3+ hemosiderinuria. The highly sensitive flow cytometry assay (FLAER) revealed a PNH clone in 91% of granulocytes, 93% of monocytes, and 78% of red cells. With a confirmed diagnosis of PNH, prednisone was discontinued and eculizumab (900 mg every 2 weeks) was initiated. Treatment with eculizumab resulted in improvement of her laboratory values (Hgb 11.0 g/dL, white blood cells 4.6 × 103/μL with a normal differential, and platelets 135 × 103/μL) with cessation of hemoglobinuria.
In early 2011, the patient developed acute thrombocytopenia to <20 × 103/μL with no significant change in other cell lines. With other possible causes excluded, a diagnosis of immune thrombocytopenic purpura (ITP) was made. She was treated with rituximab 375 mg/m2 weekly for 4 weeks, with normalization of the platelet count. She has remained on eculizumab with no recurrence of hemolytic anemia.
With regards to the underlying malignancy, a staging CT in March 2011 showed minimal change in the previously noted right supraclavicular and mediastinal lymph nodes. Subsequent imaging in August 2011 demonstrated decreased prominence of the right supraclavicular and mediastinal lymphadenopathy with no other evidence of metastatic disease. As of April 2019, the patient remains on eculizumab 900 mg every 2 weeks, with no signs of cancer recurrence. |
pmc-6636471-1 | A 58-year-old female was presented to the emergency department with a 4-day history of nausea and vomiting. The patient had a past medical history for Parkinson's disease and gallstones but denied having any previous abdominal symptoms. The patient referred abdominal distention with intolerance to oral intake and postprandial vomits of nonbilious characteristics, containing undigested food particles. She also complained of upper abdomen discomfort that relieved after vomiting.
Clinical examination revealed blood pressure of 100/80 mmHg and heart rate of 97 bpm. Cardiorespiratory and neurological exam revealed no abnormalities.
Abdominal examination revealed a soft abdomen with normal bowel sounds, mild epigastric tenderness, and no palpable organomegaly.
Plain abdominal X-ray showed an irregular partially rim calcified focus in the right midabdomen and absence of air in the distal bowel (). Abdominal ultrasound informed a collapsed gallbladder.
Blood work showed hematocrit of 45%, white count of 7500 cells per mm3, urea 48 mg/dl, creatinine 1.02 mg/dl, AST 19 U/l, ALT 16 U/l, alkaline phosphatase 88 U/l, bilirubin 1.4 mg/dl, and amylase 102 U/l.
Initial measures were resuscitation with fluids and gastric decompression with a nasogastric tube. Computed tomography of the abdomen revealed a multilithiasic gallbladder with alteration of the surrounding fatty tissue, pneumobilia, gastric distention, and a 45 mm × 32 mm calcic stone located in the duodenal bulb ().
We performed an upper endoscopy identifying an obstructing 4 cm stone in the duodenal bulb. Laser and mechanical lithotripsy were attempted using a Holmium probe and a Dormia basket achieving partial fragmentation of the stone (), but due to failure of progression, we decided to conclude the procedure and switch to a laparoscopic approach ().
Two 12 mm and two 5 mm ports were used, all of them in the upper abdomen. Omental adhesions to the gallbladder were lysed exposing the cholecystoduodenal fistula. A decision was made not to treat the fistula due to the high risk of complications. A longitudinal gastric antrotomy was made with ultrasonic shears (harmonic), revealing a partially fragmented stone positioned in the duodenal bulb. The multiple fragments were extracted through the antrotomy with laparoscopic forceps.
The antrotomy was closed with a longitudinal single layer uninterrupted 3/0 absorbable barbed suture. We performed an intraoperative upper endoscopy in order to rule out any air leaks and confirm adequate passage of the scope through the second and third duodenal portions. Finally, the stone fragments were extracted in a retrieval bag, and a Jackson-Pratt drain was placed in the parieto-hepatic recess. Wounds were closed with 2/0 vicryl and 4/0 monocryl.
The patient was extubated after surgery and transferred to a general ward. On postoperative day (POD) 4, we performed a fluoroscopic contrast study showing no leaks or obstructions to the passage of the contrast solution (). Therefore, the patient initiated liquid oral intake with good tolerance and progressed to a soft diet on POD 5.
The patient was discharged home on POD 12 without any major complications other than an epigastric wound infection that required drainage and oral antibiotics. Outpatient visit one week after discharge revealed adequate oral intake without vomiting or pain. Evaluation over the following months ruled out any complications or recurrence of symptoms. |
pmc-6636486-1 | A 61-year-old male in good health with a history of mild low back pain over several years began developing subacute onset of worsening of back pain and lower extremity pain over six weeks. He had a lumbar steroid injection 18 months prior. He was initially evaluated at an outside institution where a magnetic resonance (MR) imaging study of the spine was obtained which was interpreted as normal. Due to unremitting back pain, he presented to our institution where a repeat MR imaging study was obtained demonstrating abnormal intradiscal signal between the L3 and L4 vertebral bodies consistent with disc space infection and adjacent vertebral osteomyelitis (). In addition, a small amount of enhancing phlegmon was noted. The patient underwent a CT-guided biopsy of the disc space which was nondiagnostic with negative cultures. At the time of his initial presentation, his white count was 7.2 with C-reactive protein of 84 and a sedimentation rate of 84. Blood cultures were obtained and were negative. The patient was initially placed on broad-spectrum antibiotics. With ongoing symptoms and no identifiable pathogen, an open L3 disc space biopsy was performed three days later. Fungal culture revealed growth of Aspergillus nidulans. Susceptibility testing was performed. Serum Aspergillus antigen and Fungitell assays were significantly elevated. He was started on voriconazole 200 mg orally twice per day with excellent serum levels.
Initially, the patient's back pain began to improve. However, 4 weeks after the disc space biopsy and initiation of antifungal treatment, his symptoms rapidly progressed. The patient's laboratory studies revealed a sedimentation rate greater than 100 and his C-reactive protein was elevated at 25. His Aspergillus antigen was 3.75 which was a slight increase from his level of 3.37 about 4 weeks earlier. In addition, his voriconazole level was 0.9 which was down from 4.1 3 weeks prior. A follow-up MR demonstrated persistent T1 and STIR sequence signal abnormalities involving the L3 and L4 vertebral bodies. There was progressive bony destruction of the L3 and L4 vertebral bodies as well as focal progressive kyphosis. In addition, new wedge compression deformities of L1, L2, and L5 had developed in the interim. Presumably these were related to poor bone density. Although the patient had only undergone six weeks of antifungal therapy, the progression of symptoms, laboratory markers, and radiographic deterioration prompted recommendation for surgical intervention. The significant risk of mortality with Aspergillus nidulans spinal osteomyelitis treatment was the key factor in the recommendation for surgical debridement [–]. Treatment recommendations for spinal osteomyelitis and suspected treatment failure may be guided by unchanged or increasing inflammatory markers after four weeks of treatment [, ]. Infectious Disease Society of America recommendations in cases of suspected treatment failure include follow-up MR imaging and additional tissue samples []. In cases of radiographic evidence of treatment failure, surgical debridement should be considered []. Given that all of these findings were present in our patient, aggressive surgical debridement and spinal stabilization was advised. The patient underwent an anterior lumbar discectomy at L3-L4 with partial corpectomies of the adjacent L3 and L4 vertebral bodies. After complete debridement of the infected disk and adjacent bone, an expandable titanium corpectomy cage was used for reconstruction. It was noted that the L3 disc material was very fibrotic, and intraoperative microbiology testing confirmed fungal hyphae consistent with aspergillosis. Anterior lumbar fusion procedures were also performed at L4-5 and L5-S1 using lordotic polyetheretherketone cages containing integrated screws. The anterior fusion construct corrected lumbar lordosis-pelvic incidence mismatch, stabilized the anterior and middle spinal columns, and provided a favorable arthrodesis environment. Circumferential spinal fixation was also desired due to the patient's poor bone quality and placement of the expandable cage (Figures and ). The patient was repositioned and then underwent a posterior bilateral pedicle screw and rod fixation from T11-S2 with iliac screws. We recommended a multilevel anterior and posterior fusion in order to maximize the chance of successful arthrodesis and reduce the chance of the need for further stabilization in the setting of this potentially fatal disease. The patient tolerated the surgical procedure well and reported immediate improvement in his back and leg pain. After surgery, he was initiated on voriconazole 300 mg twice daily along with caspofungin 50 mg daily for 6 weeks.
After 6 weeks, caspofungin was stopped and he received oral voriconazole at 300 mg twice daily for 7 months with adequate serum levels. Voriconazole was subsequently discontinued after the patient developed severe photosensitivity, and posaconazole 300 mg per day was initiated. Follow-up MR studies demonstrated resolution of the signal abnormality at the L3-L4 level without evidence of residual or recurrent infection. There was no evidence of spinal canal compromise. Due to the severity of the patient's pain on presentation, the patient could not tolerate standing X-rays preoperatively. However, standing spine X-rays at one year confirms good sagittal balance. The study demonstrated T11-S1 posterior fusion with pedicle screws and posterior stabilization rods with bilateral iliac screws, anterior discectomy with interbody grafts at L4-5 and L5-S1, and partial L3 and L4 corpectomies with an expandable cage. Imaging at two and three years is planned for deformity correction assessment. Serum Aspergillus antigen and Fungitell assay trended down and have normalized. His sedimentation rate and C-reactive protein levels are also normal. His back pain has significantly improved without any residual neurologic defects. Since he is now a year out from his extensive surgery without any evidence of persistent or recurrent infection, the plan is to discontinue posaconazole and monitor him closely. |
pmc-6636488-1 | A 33-year-old man was hospitalized at the Thoracic Surgery Clinic (TSC) with complaints dating from about 2 to 3 months, resulting in pain behind the sternum, difficulty in swallowing solid food, and body weight reduction of about 8 kg. The physical exam is remarkable for polydactyly with syndactyly () and obesity. The patient had six digits on both feet and six digits on the right hand. The accessory finger on the left foot was surgically removed. A right orchiectomy was performed at 17 years due to cryptorchidism for cancer prevention. He also reports myopia since he was a child.
Past and concomitant diseases: Bardet-Biedl syndrome, with end-stage renal disease (ESRD) reached and chronic hemodialysis treatment (CHT), during which infection with HCV and secondary arterial hypertension, were established. Kidney transplantation from an alive unrelated donor in Pakistan was performed. An outpatient CMV infection was found, followed by several hospitalizations for active treatment and follow-up. In the family history, there was also a brother with Bardet-Biedl syndrome, who died 9 years after kidney transplantation.
The Computer Tomography Scan (CT) and abdominal ultrasound did not show any pathological result. The fiber esophagogastroscopy visualized a normal lumen and intact mucosa of the esophagus, but at about 30 cm from the dentition in the back part of the wall, an ulcer with a size of 10 mm was seen, with a shallow bottom and rough and eroded thick edges, from which 3 biopsies were taken. The histopathological examination of the biopsies established a low-differentiated adenocarcinoma.
A surgery treatment was undertaken: subtotal resection of the esophagus, with gastroesophagoplasty a modo Ivor Lewis–МcKeown and pyloroplasty with the Heineke–Mikulicz method which were performed. On the posterior wall, along with the thoracic esophagus, a discrete seal near 6 cm in length was palpated (). During the section of the macroscopic preparation, ulcerative changes with a length of about 6 cm were visualized (), the same with definitive histological preparation showing a moderately differentiated adenocarcinoma. In all extirpated lymph nodes, any neoplastic elements were found—there were only nodes with chronic nonspecific lymphadenitis. The patient was released in a clinically stable condition, with a noncomplicated postoperative period following.
Seven months later, the patient was hospitalized again at the clinic in connection with shortness of breath and fatigue, progressing from about one week. There were clinical, laboratory, chest X-ray, and CT data for spontaneous bilateral hemorrhagic pleural effusions; the bigger one was on the right side ().
Thoracentesis and drainage were performed on the right side with the evacuation of 1200 ml hemorrhagic exudate and on the left side with the evacuation of about 400 ml hemorrhagic fluid. Three days later because of chest X-ray and ultrasound data () for a coagulated right-sided hemothorax, a posterior-lateral right thoracotomy followed. The coagulated hematoma in a stage of organization was evacuated, tightly located over the whole visceral pleura, and there was near 1500 ml of dark liquid hemorrhagic component, placed in many loculations, which was also successfully removed. Debridement, decortication of the right lung, and partial pleurectomy were undertaken. Any source of the hemorrhage was established intraoperatively. The gastric transplant in the posterior mediastinum was found intact. The patient was discharged in a clinically stable general condition after a smooth postoperative period ().
A following hospitalization at the TSC came one year later on the occasion of complaints that began a few weeks earlier and consisted of pain and heaviness in the operational scar area in the abdomen, with the clinical evidence of a postoperative herniation of the anterior abdominal wall about 8/8 cm in size.
A further surgical intervention to the patient was undertaken—herniotomy and plastics of the anterior abdominal wall with polypropylene fiber. The patient was released clinically stable after a smooth postoperative period without any registered subsequent postoperative complications.
The follow-up of the patient was documented two years later an anteroseptal myocardial infarction—STEMI with PCI and stent implantation—DES x 1 LADm. Further following of the case in a gastroenterology clinic for the severity of the liver damage to be assessed after discontinuation of the maintenance treatment with Exviera and Viekirax detected no HCV-RNA, which determined the sustained virologic response to treatment. |
pmc-6636498-1 | A 50-year-old male was hospitalized at Queen Savang Vadhana Memorial Hospital, Chonburi, Thailand, due to a 3-week course of oropharyngeal dysphagia. He had been diagnosed with HIV infection with a CD4 cell count of 64 cells/mL (8%) 7 years prior, when he presented with a 2-month history of chronic productive cough and significant weight loss. He received a combination treatment of tenofovir, emtricitabine, and efavirenz. Four months prior to the admission, he has achieved viral suppression with a CD4 count of 248 cells/mL (21%). Physical examination revealed neither oral candidiasis nor other intraoral lesions. Esophagogastroscopy was performed and revealed diffuse pseudomembranes in the lower one-third of the esophagus (). The histopathologic findings of the biopsied esophageal mucosa exhibited mild acute and chronic esophagitis with focal squamous hyperplasia without demonstrated organisms. A presumptive diagnosis of candidal esophagitis was made, and fluconazole of 200 mg/day was prescribed to the patient. No clinical improvement was observed at 3 weeks after the start of antifungal treatment. Fluconazole dose was increased to 400 mg/day. Three weeks after high-dose fluconazole treatment, he was rehospitalized due to worsening condition and development of hypovolemic hyponatremia. Esophagogastroscopy was done once again, which revealed circumferential white exudates with focal areas of erosions at the lower one-third of the esophagus without luminal stenosis or obstruction. The pathologic findings exhibited foci of splitting of the squamous epithelium with few intraepithelial cystic degenerations, no parakeratosis, no basal cell hyperplasia, mild acute and chronic inflammatory infiltrates with focal squamous cell hyperplasia, and normal underlying mucosa, which were similar to the previous findings (). A diagnosis of EDS was made, and omeprazole of 80 mg/day was given to the patient. The patient's symptoms gradually improved after 2 weeks of treatment. During hospitalization, he developed binocular diplopia, proximal muscle weakness, and ventilatory failure requiring ventilator support. Myasthenia gravis was suspected. The diagnosis was confirmed by an electrophysiologic study and positive result of muscle-specific tyrosine kinase (muscle-specific kinase, MuSK). The patient gradually improved after a course of intravenous immunoglobulin treatment. |
pmc-6636506-1 | A 46-year-old female with past medical history of tobacco dependence presented for low-grade fever and sudden onset of severe right upper quadrant abdominal pain with associated nausea and vomiting. Computed tomography (CT) completed in the emergency department revealed an intraluminal polypoid filling defect arising from the isthmus of the aorta projecting into the proximal descending aorta and findings consistent with infarctions of the spleen and right kidney (Figures –). Given the fever, there was a concern for sepsis so she was started on broad-spectrum antibiotics. Heparin has also initiated cardioembolic phenomena of unclear etiology; however, it was later discontinued to prevent hemorrhagic transformation of the existing infarcts. The patient was admitted for further evaluation.
A transthoracic echocardiogram showed no findings to suggest valvular or cardiac source of embolus (). An agitated saline bubble contrast study was performed with no evidence of intracardiac shunting (). A transesophageal echocardiogram was then completed and revealed a large echogenic mobile mass attached to the wall of the descending thoracic aorta (Figures and ). Bilateral lower extremity arterial Dopplers were obtained and revealed severe popliteal-tibial arterial disease in the left lower extremity ().
Work-up for other organic causes was extensive. Infectious work-up was negative and included testing for bacterial infection, fungal infection, HIV, Bartonella henselae antibody, Coxiella burnetii antibodies, Leptospira antibodies, syphilis, aspergillus galactomannan antigen, and histoplasma antigen. Hypercoagulability work-up was also unremarkable and included DRVVT screening for lupus anticoagulant, anticardiolipin antibodies (×2), homocysteine levels, paroxysmal nocturnal hemoglobinuria screening, Protein C and S activity, antithrombin mutations, and factor V Leiden and prothrombin genotyping. Autoimmune work-up was also unyielding and included testing for antinuclear antibody, antineutrophil cytoplasmic antibody, antidouble-stranded DNA antibody, rheumatoid factor, cyclic citrullinated peptide, Sjogren antibody, myeloperoxidase antibodies, proteinase 3 autoantibodies, complement levels, Smith antibody, and RNP antibody. Given that there are no acute threat to limb or organ ischemia, the largely negative work-up, and no straight-forward mechanism to remove the aortic thrombus, we decided to manage the patient medically with close outpatient follow-up. She was started on heparin while inpatient which was transitioned to apixaban 5 mg twice a day and 81 mg of aspirin daily. This was done primarily because of the patient's preference to avoid frequent INR checks. A board-certified hematologist agreed with the use of apixaban with monthly outpatient follow-up to ensure patient compliance and clinical improvement. Patient was also counseled regarding smoking cessation. Catheter-based or surgical thromboembolectomy would have been considered if the patient would have developed acute limb ischemia or threatened organ.
At one month, the patient was seen in the clinic and denied symptoms of chest, back, or abdominal pain. She denied significant pain at rest or with exertion and did not exhibit any nonhealing wounds in either of her lower extremities. She noted being able to walk roughly one-quarter of a mile without symptoms prior to resting. She reported adherence with her daily aspirin and twice-daily Eliquis. At this time, arterial computed tomography of the abdomen and pelvis was repeated which revealed complete resolution of the filling defect involving the aortic isthmus and proximal descending aorta. There was no CT evidence to suggest vacuities. The spleen exhibited a lobulated superior margin with volume loss and the right kidney demonstrated a lobulated appearance of the right lower pole compatible with scarring from the previous infarct (). The patient was instructed to continue with her antithrombotic regimen and follow-up in one month.
At this time, the patient no longer expressed having any symptoms of LE pain, swelling, or claudication. She reported being able to resume her daily activities with no limitations. Findings of the CTA were discussed with the patient at her two-month follow-up, and she was encouraged to continue with activity as tolerated. At this time, given the resolution of the mass after anticoagulation, it was felt that it was most likely an aortic thrombus. With regards the duration of therapy, we felt that this was likely unprovoked, and given it was arterial, we decided to continue anticoagulation for at least 12 more months pending further hematologic evaluation. |
pmc-6636529-1 | Patient 1, a 59 year-old male with no past medical history, presented with wrist pain. An x-ray study of the right wrist demonstrated advanced arthritis in his area of symptoms, but also extensive calcification of both radial and ulnar arteries (). Based on this finding, further discussion regarding the presence of peripheral vascular disease and cardiac disease was undertaken. The patient denied any personal history of symptoms or previous cardiac workup. It was suggested that the patient considers further evaluation including a CAC score. The scan identified a total coronary calcium score of 424 which indicates extensive plaque burden. Based upon age-adjusted population data, this patient is at a high risk of a future cardiac event. |
pmc-6636529-2 | Patient 2, a 60 year-old otherwise healthy man, presented with pain in his right wrist which developed acutely when lifting a heavy machine. The x-ray study demonstrated scapholunate widening and radiocarpal arthrosis in addition to significant calcification of his ulnar artery which is most clearly seen on the lateral radiograph (). Similar to Patient 1, additional history revealed no prior symptoms or workup for CAD. A CAC score of 174 was interpreted as evidence of moderate calcium plaque with possible areas of significant narrowing. All of the calcifications were found in the left anterior descending artery. |
pmc-6636529-3 | Patient 3, a 59 year-old male with a 37-year history of diabetes but no known cardiac disease, also presented with wrist pain prompting an x-ray demonstrating scapholunate advanced collapse as well as arterial calcification (). A CAC score of 1412 indicated significant coronary disease. |
pmc-6636534-1 | A 50-year-old man came to our Ear, Nose, and Throat (ENT) Department with OSA that was intolerant to the CPAP and MAD treatments recommended by his pneumologist. He complained of progressive severe somnolence and headaches. Between his antecedent treatments, he had had two heart infarcts and underwent cardiac artery bypass surgery 3 years ago. He was under anticoagulant medication. He also suffered from high blood pressure controlled with calcium-channel inhibitors.
The ENT examination showed no anatomical findings that suggested the reason for his OSA. We observed a Friedman stage 1, with tonsil size grade 1. An examination of his nose showed no obstruction, and the size of the base of the tongue was normal. His body mass index was 22.1 kg/m2. His Epworth sleepiness scale was 22. In a sleep study performed using polygraphy, his apnea-hypopnea index (AHI) was 31.2 and minimal O2 saturation was 81.3%.
As part of our ENT protocol, DISE is generally indicated when a patient does not tolerate any therapeutic option and a surgical solution might be needed. Following the European consensus guidelines, DISE was performed under an anesthetist's control using propofol. In this case, DISE showed a floppy closing door epiglottis (video in Supplementary materials ()) and it was diagnosed as the cause of the collapse during apneas. During DISE, there were no modifications of the collapse when changing the patient's head position to lateral or after an Esmarch maneuver, excluding a positional reason.
Three expert sleep surgeons evaluated the video and considered that the only valuable option was a partial epiglottoplasty under general anesthesia. For personal reasons, the patient rejected such surgery. We then offered Mt, but he could not afford it. After obtaining his consent, we then offer him the use of the Airway Gym® App for 90 sessions and arranged for periodical follow-ups.
The patient noticed that his headache and somnolence were reduced gradually. We then arranged a new DISE (video in Supplementary materials ()) after 3 months; surprisingly, the floppy closing door epiglottis had disappeared. The three expert sleep surgeons agreed that surgery was not now necessary. We arranged a new sleep study in which the AHI was reduced to 17.2, minimal O2 saturation improved to 85.1%, and his Epworth sleepiness scale improved to 15. In this new situation, a MAD was recommended but rejected by the patient for economic reasons. |
pmc-6636556-1 | A 15-year-old male patient presented to our orthopedic outpatient department with a rapidly enlarging protruding tumor on the left chest anterior wall, which had gradually increased in size over the preceding year. He had no history of preceding trauma or local irritation. The tumor was asymptomatic but was a physical obstacle due to its protruding nature. On examination, a protruding lesion was noted on the left chest wall, measuring approximately 4 × 3 cm in size (). Magnetic resonance imaging revealed a tumor measuring 4 × 3 × 3 cm, protruding subcutaneously superior to the clavicle (Figures and ). Computed tomography revealed that the tumor had not invaded the clavicle. Histopathological examination following hematoxylin and eosin staining of the needle biopsy specimen revealed that the mass comprised fibromyxoid tissue with focal spindle cell proliferation and inflammation in a loosely myxoedematous matrix with extravasated red blood cells (). Further diagnostic testing via FISH analysis with a USP6 Dual Color Break Apart Probe was performed. FISH analysis revealed many USP6 rearrangements by splitting of the red and green signals in both nuclei in this field, strongly suggesting a diagnosis of NF (). Although the histopathological results did not match the clinical course, such as extremely rapid growth, he was followed up without treatment. The tumor size rapidly increased to 8 × 6 cm, and the tumor protruded further in a few weeks. One month later, the tumor spontaneously separated and fell off (). The separated tumor measured approximately 6.5 × 5.3 × 3 cm and was mostly a necrotic lesion with bleeding. Following this, the remaining tumor on the chest wall continued to grow rapidly ().
Although histopathological results confirmed the diagnosis of NF, the clinical findings, which included a protruding lesion that separated and fell off spontaneously, large tumor size, and rapid enlargement, suggested the possibility of malignancy, prompting the need for wide resection. Intraoperatively, we observed that the tumor had not invaded the muscle and bone. The postoperative period was uneventful. The resected tumor measured approximately 5.5 × 4.5 × 3 cm (). Histopathological examination of the resected tumor following hematoxylin and eosin staining and FISH analysis with a USP6 Dual Color Break Apart Probe showed similar results as that of histopathological examination of the preoperative needle biopsy specimen. Furthermore, the fusion gene USP6-MYH9 was confirmed by polymerase chain reaction. These findings were consistent with a diagnosis of NF. After 1 year of follow-up, the patient did not show any recurrence, metastases, or other complications. |
pmc-6636569-1 | A 44-year-old male patient was hospitalized because of progressive dyspnea, cough, and fever during one month. His past medical history was unremarkable. He appeared initially with mild fever, dry cough, and night sweating but untreated. After two weeks, he felt shortness of breath and coughed up yellow sputum. He had been admitted in the general hospital where he had undertaken the first bronchoscopy which revealed the negative results of bronchoalveolar lavage (BAL) for both acid-fast bacillus (AFB) smear and M. tuberculosis polymerase chain reaction (PCR). He had been diagnosed with community-acquired pneumonia but not improvement after a 10-day course of antibiotic therapy and was transferred to our tertiary hospital.
On admission, he was alert, with body temperature 37°C, pulse rate of 84 beats/min, respiratory rate of 28 breaths/min, and blood pressure of 120/80 mmHg. He was supplied with oxygen via bag-valve mask at 10 L/min, and the result of arterial blood gas showed pH 7.38, PaO2 70 mmHg, PaCO2 32.7 mmHg, and HCO3− 19.4 mmol/L. Physical examination revealed dullness on percussion, fine crackles, and decreasing breath sound at the right lower lung field. Cell blood count with white blood cells 8.84 G/L (77.5% neutrophil and 13.3% lymphocyte) and hematocrit 38.2%, C-reactive protein level 78.4 mg/L, and mildly elevated liver transaminase level were recorded. The rapid testing for human immunodeficiency virus was negative. Chest X-ray showed consolidation in the right lower hemithorax, and the first contrast-enhanced chest computed tomography (CT) revealed small necrotizing cavities in this consolidation area (). With aforementioned information, we suspected differential diagnoses as follows: necrotizing pneumonia with particular pathogens (high-virulence bacteria, tuberculosis, or fungal infection) or noninfectious diseases (autoimmune disease, malignancy, or vascular disease). The antinuclear antibodies test was negative and the histopathological result of transthoracic lung biopsy showed an inflammatory process. He was treated with the combination of broad-spectrum antibiotics (meropenem, ciprofloxacin, and vancomycin) during four days but he still had fever. The adjunctive therapy with corticosteroid (40 mg methylprednisolone intravenous once daily) was commenced, and his condition improved spectacularly (defervescence, breath normally without oxygen) but the fever reoccurred on the fourteenth day after hospitalization. The second chest CT undertaken showed a significant regression of the consolidation (). The second bronchoscopy showed the positive BAL results for AFB smear and M. tuberculosis PCR. The treatment with a six-month antituberculosis regimen resolved his condition completely on follow-up. |
pmc-6636574-1 | A 72-year-old male who recently migrated from Dominican Republic was seen in the ambulatory clinic with few weeks of intermittent fevers and bilateral lower limb edema. His medical comorbid condition is significant for hypertension and spondyloarthropathy. He required hospitalization of the further evaluation of echocardiographic finding of aortic valve vegetation.
Patient's illness started with lower back pain 2 months before presentation, further evaluation anemia, and bone lesion leads to bone marrow biopsy concluding the diagnosis of multiple myeloma. Weight loss of 17 pounds during this period was also associated. Review of system was positive for malaise and constipation. He did not report rectal bleeding, change in stool caliber, or difficulty in swallowing. He had a prior history of remote knee surgery in childhood; only social habit was occasional alcohol use and physical examination was unremarkable except for both diastolic and systolic murmur over the aortic area.
The initial laboratory parameters reveal hemoglobin of 8.5 g/dl and white cell count of 9.2 x I09 cell/dl (83.6% neutrophils); transthoracic echocardiogram showed preserved ejection fraction, moderate aortic stenosis, and regurgitation with thickening of the aortic valve and independently mobile echo dense structure on the left ventricular outflow tract measuring 1.61 × 0.82 centimeters (see ). Transesophageal echocardiogram showed tricuspid aortic valve with moderate aortic stenosis, moderate aortic regurgitation, and large aortic valve vegetation of 0.45 cm x 1.3 cm attached to right cusp (see ). Three sets of blood culture reported growth of S. gallolyticus from both aerobic and anaerobic bottles with culture and sensitivity depicting sensitivity to Vancomycin and Ceftriaxone. Infectious disease consultation recommended both intravenous (IV) antimicrobials for six weeks.
He was started on intravenous Vancomycin and Ceftriaxone and transferred to a higher tertiary center for further surgical management, where he had aortic valve replacement with an Edwards 23 mm bioprosthetic valve. He had an uneventful recovery after completion of a six-week course of antibiotics (Ceftriaxone and Vancomycin) and was referred to the gastroenterology clinic for a screening colonoscopy. The colonoscopy revealed a 35 mm polyp in the sigmoid colon and another 30 mm polyp in the descending colon (see Figures and ), both removed with hot snare polypectomy. He presented the next day with the high-grade fever with blood cultures positive for Streptococcus mitis; repeat echocardiogram showed no vegetation on the native or bioprosthetic valve. He was treated with a repeat course of antibiotics. Pathology of the sigmoid colon polyp was consistent with invasive adenocarcinoma arising from tubular adenoma and the ascending colon polyp revealed tubular adenoma with high-grade dysplasia. After imaging studies, he staged to colon cancer AJCC Stage 1 (Duke's stage A). Subsequently, he underwent a right hemicolectomy with clean resection margins and no evidence of metastasis and made a remarkable recovery. For the management of multiple myeloma, he is being planned for Bortezomib-based chemotherapy followed by stem cell transplant. |
pmc-6636578-1 | A 70-year-old woman presented at the gynecology unit of our hospital complaining about a painful vulvar lesion in May 2017. She had no significant medical history. Physical examination revealed an exophytic and ulcerative vulvar mass, approximately 4 cm in diameter, localized on the right labium majus at less than 2 cm from the midline, without palpable inguinal lymph nodes bilaterally. An incisional biopsy was performed, and histology revealed an invasive poorly differentiated vulvar SCC. A total-body CT scan performed to stage the disease resulted negative for distant metastases.
The patient underwent right hemivulvectomy in order to obtain wide tumor-free pathological margins in June 2017. Concomitant inguinal lymph node dissection was not performed due to the patient's refusal (risk of lymphedema). Histopathologic findings confirmed a poorly differentiated vulvar SCC arising on a background of lichen sclerosus. The size of the invasive SCC lesion was 4.5 cm with a depth of invasion of 2.7 mm and no lymphovascular invasion. All surgical margins of the lesion were tumor-free (more than 1 cm).
She was addressed to our oncology unit in July 2017. We required a disease restaging by abdominal and pelvic MRI scan and chest CT scan. No evidence of distant metastases resulted from the imaging studies. Therefore, we suggested locoregional lymph node dissection in order to define the pathologic stage of the tumor and to plan postoperative adjuvant radiotherapy to the groin just in case of lymph node involvement.
In August 2017, a bilateral inguinofemoral lymph node dissection was performed with all nodes (twelve) resulting negative for metastatic spread on conventional hematoxylin-eosin staining. The tumor was staged as FIGO stage IB, and the patient was addressed to strict follow-up.
However, just one month later (September 2017), the patient developed a local recurrence with a 3 cm nodule in the right vulvar area and a 0.8 cm lesion in the clitoris. A wide local excision was performed and histopathology examination revealed a poorly differentiated vulvar SCC in both lesions.
A restaging CT scan of the chest, abdomen, and pelvis showed multiple bilateral pulmonary metastases and multiple inguinal and pelvic lymph node involvement.
Because of recurrence, systemic chemotherapy was started with carboplatin (AUC5 day 1 every 3 weeks) and paclitaxel (80 mg/m2 days 1 and 8 every 3 weeks). After 3 cycles, a total body CT scan showed progression of metastatic disease in the lungs, lymph nodes, and liver. Moreover, a painful erythematosus nodule appeared on the skin of the right groin () and right thigh ().
Because of disease progression, a second-line chemotherapy with capecitabine (1000 mg/m2 bid, days 1-14 every 21 days) was started (December 2017). After 3 cycles of treatment, the patient presented ulceration and fistulization of the groin lesion () and new skin nodules in the right thigh associated with extremities lymphedema. She complained of perineal pain and analgesic therapy was prescribed. Moreover, palliative radiotherapy to inguinal metastases (30 Gy in 10 fractions) was performed.
A reevaluation CT scan (February 2018) revealed further progression of the disease with multiple liver metastases, multiple excavated lesions in the lungs (), and matted metastatic iliac/inguinal lymph nodes ().
The patient died one month later, in March 2018, because of respiratory failure. |
pmc-6636589-1 | A 39-year-old African American woman was brought to our emergency room (ER) with lethargy, progressive confusion, and generalized rash involving both lower extremities of 1-week duration. Two months ago, the patient had presented to our hospital with left lower quadrant pain and nonbloody diarrhea and dizziness. A Computed Tomography (CT) of the abdomen and pelvis had revealed pancolitis and she was treated with antibiotics. At that time she was also found to have proteinuria, pedal edema and photosensitive rash on her face. The proteinuria was attributed to glomerular disease of unclear etiology. Autoimmune work-up revealed positive ANA, anti-Smith Ab, and anti-RNP. Parvovirus IgG was also positive. She was found to have pancytopenia and the diagnosis of aplastic anemia was considered and she was transferred to another tertiary care hospital. There, she underwent a renal biopsy that revealed focal proliferative and membranous lupus nephritis classes 3 and 5. She was discharged on prednisone, mycophenolate, and hydroxychloroquine. Now she had presented with the current complains.
In the ER she was found to be lethargic. On physical examination, her temperature was 97.5°F, pulse was 102 beats per minute, the initial blood pressure was 136/79 mm of Hg, and respiratory rate was 22 breaths per minute. There was no scleral icterus. Oral mucosa was dry without visible lesions. The neck was supple. Skin was warm and had desquamating rash on both lower extremities from hip down (). The rash was nonblanching and erythematous, and Nicolsky sign was positive. The abdomen was soft but mild tenderness was noted in the epigastric region without any guarding or rebound tenderness. There was no organomegaly and the bowel sounds were sluggish. There was bilateral pitting pedal edema. The patient was arousable with verbal and tactile stimulation and was moving all extremities spontaneously. Rest of the physical examination was unremarkable.
Later she developed hypotension and was given on intravenous fluids. Sepsis was suspected and broad spectrum antibiotics were initiated. The early differential diagnosis included Steven Johnson syndrome vs. necrotizing fasciitis causing sepsis. Her labs revealed severe pancytopenia and severe metabolic acidosis. Detailed results of the laboratory parameters are given in .
She was transfused 2 units of packed red blood cells and 6 units of platelets. Within an hour of arrival to the ER she developed acute respiratory failure and was intubated and placed on mechanical ventilation. She developed septic shock requiring vasopressors. She was deemed too unstable for imaging studies but a portable chest X-ray revealed right basilar atelectasis and portable X-ray of the lower extremities showed soft tissue edema. Four hours after the initial presentation she developed asystole and expired after failed resuscitative measures. An autopsy was done that revealed CHP (), Libman Sacks endocarditis, bilateral pleural effusion, proliferative and membranous lupus glomerular nephropathy, and bilateral adrenal hemorrhage. Blood culture postmortem grew serratia marcescens. |
pmc-6636591-1 | A 33-year-old New Zealand European male was suspected of having DBA when he was two months old. He was taken to his general practitioner for a routine 6-week check, during which he was noted to be pale, and a subsequent full blood count revealed an isolated macrocytic anaemia (Hb 94 g/L). Of relevance, his mother was diagnosed with pure red cell aplasia when she was 14 months old, raising the possibility of a congenital bone marrow failure syndrome. A bone marrow biopsy revealed markedly reduced erythroid precursors consistent with DBA. He was placed on prednisone from two months of age. In addition to treatment with a corticosteroid, he required multiple blood transfusions between the ages of two months and two years. At four and a half years of age, oxymetholone was trailed as adjunctive therapy to prednisone at a total daily dose of 25 mg (2 mg/kg) to allow a steroid taper but was ineffective. A trial of danazol or cyclosporine was considered but was never undertaken due to lack of evidence regarding its efficacy in DBA. The patient's erythropoietin (EPO) levels were evaluated at the age of six and found to be raised at 197 μM/ml (normal range 5–53 μM/ml).
Later in life, it was noted that the patient had several physical malformations associated with DBA. He had dysmorphic features of short stature, micrognathia, small hands with long fingers, and a slightly widened neck. An echocardiogram revealed no cardiac abnormalities. When he was 12 years of age, he required orchidopexy for an undescended testis. Latterly, he was assessed by the endocrine service who concluded he was eugonadal, and his short stature was related to his long-term steroid use. As a result, attempts were made to reduce the prednisone dose slowly to the most tolerated but effective dose. He was stable for a number of years on between 7.5 mg daily and 7.5 mg on alternate days. He was transfusion independent between the ages of 2 and 32.
In November 2017, he presented with a profound hypoproliferative anaemia (Hb 47 g/L, reticulocyte 2 × 109). He denied any new medications or bleeding. At the time, his prednisone dose was 7.5 mg/5 mg on alternate days. Investigations for alternate causes of anaemia were unrevealing, with pertinent negatives including an unremarkable blood film, normal haematinics (B12 263 pmol/L, folate 36.4 nmol/L, and iron 23 μmol/L), negative haemolysis screen, and negative parvovirus, EBV, and CMV serology and PCR. Ferritin and transferrin saturation at the time were slightly elevated (737 μg/L and 92%, respectively), and transferrin was slightly decreased (1 g/L) likely secondary to ineffective erythropoiesis. A repeat bone marrow showed a hypocellular trephine with relatively preserved macronormoblastic erythropoiesis. There was no evidence of dysplasia, disease progression, or transformation. Cytogenetics revealed a normal karyotype. Finally, genetic testing was sent to Oxford University Hospital in the United Kingdom which revealed a point mutation in intron 2 of RPS19, confirming the diagnosis of DBA.
One month later, his prednisone was increased up to 2 mg per kg (totalling 110 mg per day) after requiring 7 units of RBCs within the preceding month. He remained on this dose of prednisone for three months, achieving a peak haemoglobin level of 84 g/L, but relapsed into transfusion dependency each time his prednisone was tapered. By this stage, the patient had cumulated many side effects related to his medical therapy. The long-term steroid use led to gastritis, osteoporosis, hypokalaemia, and central serous retinopathy requiring further co-treatment with omeprazole, alendronic acid, and cholecalciferol. He also developed transfusional haemosiderosis with a peak ferritin level of 1946 μg/L and transferrin saturation of 96%, necessitating chelation therapy with deferiprone. This was the first time that the patient had required a chelating drug. Unfortunately, he developed profound neutropenia from the deferiprone which culminated in a prolonged admission with extensive lower limb cellulitis, and the deferiprone was permanently discontinued. A cardiac MRI did not show significant iron overloading.
Given the toxicities, alternate treatment options were re-discussed including danazol, metoclopramide, and allogeneic stem cell transplant (AlloSCT). He was worked up for a transplant but did not have any matched sibling donors, and he was also considered as high risk for allogeneic stem cell transplantation given his age and multiple prior RBC transfusions. Thus, the decision was made to commence danazol 200 mg daily in March 2018. A starting dose of 200 mg was chosen as it is a standard starting dose for most indications. At this time, he was taking 60 mg of prednisone a day. Following the introduction of danazol, his haemoglobin rose, allowing the prednisone dose to be decreased (, ). Over the following few months, he had been weaned down to 7.5 mg of prednisone daily which he is taking in addition to the 200 mg of danazol while maintaining a haemoglobin level of 148–160 g/L six months later. The patient has been left on the minimum effective dose of danazol. His liver function tests have remained normal while on danazol. |
pmc-6636698-1 | A previously healthy 64-year-old woman with a history of hypertension who presented with arthralgias, myalgias, subjective fevers, and a dry cough with progressive dyspnea for two weeks was admitted to an outside hospital (OSH) for further evaluation. Her workup included negative studies for respiratory cultures, respiratory viral and atypical pneumonia pathogens, blood cultures, urine Streptococcus, Legionella, Histoplasma, and Blastomyces antigens. Other workup included a complete blood count which demonstrated mild normocytic anemia (hemoglobin 10.2 - 11.1 g/dL; prior baseline 13 - 14 g/dL) with normal white blood cell count and modest elevations in erythrocyte sedimentation rate (66 mm/hr) and C reactive protein (1.1 mg/dL). Scl-70, rheumatoid factor, anticentromere, cytoplasmic antineutrophil cytoplasmic antibodies (C-ANCA), and perinuclear antineutrophil cytoplasmic antibodies (P-ANCA) antibody titers were within normal parameters. Additional workup revealed elevated cyclic citrullinated peptide (CCP) antibodies IgG/IgA to 78. CT of the chest was negative for pulmonary emboli but revealed multiple scattered patchy infiltrative changes thought to represent bronchopneumonia (Figure ).
Despite broad-spectrum antimicrobial treatment, her respiratory status continued to worsen and she self-discharged after eight days at the OSH and presented to our institution to seek a “second opinion.” Physical exam revealed mild hypoxia and tachycardia with inspiratory crackles in the upper lung zones. Repeat CT scan showed extensive subpleural consolidations throughout all pulmonary lobes, extensive mosaic attenuation with some interstitial thickening, and no main or segmental artery pulmonary embolus identified (Figure ).
Posteroanterior and portable chest x-rays (CXR) were obtained with serial imaging showing worsening bilateral opacities (Figure ).
A transthoracic echocardiogram (TTE) was done to exclude any cardiac etiology and was unremarkable. Additionally, pulmonary artery systolic pressure and right ventricular function on the TTE were normal. Given the elevation in CCP antibodies, empiric high-dose steroids were started for possible rheumatoid lung disease. She was subsequently transferred to the intensive care unit (ICU) where she was intubated, mechanically ventilated, and bronchoscopy with bronchoalveolar lavage (BAL) was completed. She continued to experience refractory hypoxia after the bronchoscopy, and the decision was made by the family to withdraw care 12 days later. BAL analysis was negative for infectious etiologies. An autopsy completed on the lung tissue showed diffuse alveolar damage with widespread hyaline membrane formation in alveolar spaces and multiple bilateral pulmonary emboli. |
pmc-6636700-1 | We present a 78-year-old male with a past medical history of dementia, coronary artery disease, hypertension, and chronic obstructive pulmonary disease (COPD) who presented to the emergency department for evaluation of severe jaundice and itching. He denied abdominal pain. His hypertransaminemia and hyperbilirubinemia suggested obstructive jaundice. Abdominal CT with oral contrast was nonspecific, showing gallbladder dilation and what appeared to be a simple calcified gallstone in the dependent portion of the fundus (Figures -). Notably, what was likely the same stone was seen on a CT abdomen performed 10 years prior, but further imaging was not done at that time (Figure ).
During this evaluation, follow-up US revealed irregular intraluminal masses that raised suspicions for malignancy (Figure ). Subsequent MRI/MRCP clearly demonstrated a large, irregular mass surrounding the gallstone. Of note, hypointense curvilinear striations were visible along the long axis of the gallbladder (Figures -). This characteristic finding has been seen before and was coined a “mucous thread” sign. It has been theorized to be the result of excessive viscous mucin produced by this carcinoma [].
Though a laparoscopic cholecystectomy was performed, the area of invasion was too extensive for full resection. Histological samples confirmed MPGBC (Figure ). The patient and his family declined further treatment of his malignancy, and he expired six months later. |
pmc-6636701-1 | A 63-year-old male was admitted with complaints of acute onset, increased, involuntary, violent movements of his left upper and lower limbs. His past medical history included diabetes mellitus, hypertension, and an ischemic stroke 20 years prior with residual right spastic hemiplegia. He had a below-the-knee amputation done on the right lower limb three years earlier due to peripheral vascular disease and gangrene.
After the patient was admitted, a full history and physical examination were performed. With the exception of the amputated right lower limb, the examination of his vitals, head, neck, cardiovascular, pulmonary, and abdominal systems were without abnormalities.
On neurological examination, the patient was alert, awake, and oriented to time, place, and person. He was obeying vocal commands but had continuous, large amplitude, irregular, involuntary movements in his left upper and lower limbs. The movements had a flinging pattern suggestive of hemiballismus (see Video ). His muscle power was decreased on the right side of his body with normal muscle power in both the left upper and lower limbs. No paralysis was noted over the left side of the body.
His blood sugar, serum electrolytes, and serum osmolality were within the normal range. Magnetic resonance imaging (MRI) of the brain revealed an acute right parietal lobe infarct with an old middle cerebral artery territory infarct (Figure ). |
pmc-6636910-1 | A 38 year-old, male patient with BD diagnosed 2 years previously, with no typical current symptom of this disease, presented with signs of rupture of an infrarenal abdominal aortic aneurysm. He therefore underwent endovascular surgical treatment. After placement of a stent (), during the immediate postoperative period, occlusion of the left iliac artery was detected, with signs of ischemia spreading to involve the entire limb. Immediate management was conducted using a Fogarty catheter, followed by placement of a bovine pericardium patch, with compensation of the limb. There was occlusion at this site, but since perfusion of the limb was maintained and the limb was painless, with no claudication or signs of ischemia, the decision was taken to manage the patient with conservative monitoring. As part of postoperative follow-up, serial computed tomography examinations were performed, initially three-monthly and then six-monthly. Approximately 2 years after the aneurysm just described, an examination showed a possible area of de novo rupture, in the aorta, with bleeding into the retroperitoneal space, in the juxtarenal area.
During careful analysis of the case, consideration was given to the fact that the patient had been stable for some weeks after the examination and that he had a delicate pathological history, in view of the vascular complications involving the aortic segment. A further endovascular intervention was therefore planned, with the intention of achieving a definitive repair, using a custom endoprosthesis, i.e., made-to-measure by COOK® (Cook Medical, Limerick, Ireland). This endoprosthesis arrived in São Paulo, SP, Brazil after approximately 100 days.
During the surgical procedure, arterial access was obtained via the right femoral and right brachial arteries. The custom endoprosthesis was then deployed. This item had a “scallop” in the celiac trunk designed to avoid suppressing the flow to subsequent arteries and fenestrations for the superior mesenteric and renal arteries, giving rise to a further three covered stents (Advanta®, Atrium Medical Corporation, Merrimack, United States). The procedure was accomplished with no intercurrent complications, as shown by control angiography conducted after release of the implants (). The patient attended for follow-up with the rheumatology team and was put on corticoid therapy at immunosuppressant doses in combination with cyclophosphamide. He has been in follow-up for more than 12 months and no further complications have been detected, as shown by control reconstruction tomography (). |
pmc-6636915-1 | The patient was a 69-year-old woman who was admitted to the hospital because of upper abdominal pain that persisted for >10 days. The pain was characterized as primary distension pain without obvious cause. The patient received a B ultrasound examination at a local hospital, and the results revealed that the patient had multiple space-occupying lesions on the liver. She was treated in the Division of Gastroenterology at the author's affiliated hospital. A physical examination revealed no apparent jaundice; superficial lymph nodes, such as those on the neck, supraclavicular lymph nodes, and axillary lymph nodes were not swollen. Breath sounds were normal, and no coarse rhonchi and moist rales were noted. The patient's heart rate was 83 bpm, and heart sounds were normal. The abdomen was slightly bulging; the spleen was not palpable below the costal margin. Tenderness was reported in the right epigastrium, bowel sounds were 4 times per minute, and no shifting dullness sound or lower-limb edema were noted. A laboratory examination indicated that tumor indices CA199, CEA, AFP, and CA125 were in the normal range. A routine blood count yielded the following results: leukocyte count = 5.2 × 109 cells/L, neutrophils = 69.5%, erythrocyte count = 3.37 × 1012 cells/L, hemoglobin = 97 g/L, total protein = 68.4 g/L, albumin = 36.5 g/L, alkaline phosphatase = 139 U/L, gamma-glutamyl transferase = 49 U/L. Leukocyte, neutrophil, and high-sensitivity C-reactive protein levels were all within the normal range. The patient had no history of hepatitis B.
The patient underwent CT and MRI examinations during hospitalization. CT was performed using a 64-MDCT scanner (Definition AS, Siemens, Germany). The parameters for both plain and enhanced CT examination were: tube voltage, 120∼130 kV; tube current 210 mAs used as the quality reference for an online dose modulation system (CareDose 4D, Siemens) for the definition scanners; slice thickness 1.5 mm. MRI was performed using a 3.0 Tesla (T) Siemens scanner (Siemens Magnetom Verio; Siemens Medical Systems, Erlangen, Germany) with a phased-array body coil. MRI sequences included T1-weighted, axial and coronal T2-weighted image; diffusion-weighted image (DWI) findings were obtained using the following parameters: echo planar imaging technique b values: 0, 400, 1000 s/mm2. Dynamic MR images were acquired through the fat-suppressed 3-dimensional gradient-echo sequence.
The image characteristics were as follows: CT revealed a circular low-density shadow of approximately 7.5 × 8.0 cm in the hepatic hilar region (Fig. ). The interior of the mass was uneven, and high-density strips were observed in the mass. The tumor was slightly and unevenly enhanced in the arterial phase and further enhanced in the portal venous phase, and the interior of the mass was uneven. The tumor compressed the intrahepatic bile duct and caused dilatation, and tumor thrombus developed in the right branch of the portal vein. MRI revealed a heterogeneous mass in the hepatic hilar region, and the lobes were lobulated and expansive (Fig. ). The mass exhibited heterogeneous low-signal intensity on T1-weighted imaging (T1WI) and slightly higher signal intensity on T1-weighted imaging (T2WI). Multiple irregular strips were identified in the tumor, which had high-signal intensity on T1WI and low-signal intensity on T2WI. DWI with b value 1000 appeared as a restricted diffusion change that enhanced both the slightly uneven enhancement of the mass in the arterial phase and continuous enhancement in the later stage. An area of irregular liquefactive necrosis was identified in the mass. The tumor compressed the intrahepatic bile duct and caused dilatation that invaded the right branch of the portal vein. The tumor in hepatic hilar region had an abundant blood supply. Bleeding and necrosis were observed inside the tumor. The tumor simultaneously invaded the portal vein and bile duct, and the common bile duct expanded. Observation indicated that the tumor was considered to be a malignant hepatic tumor. The MRI revealed heterogeneous high-signal intensity on T1WI and low-signal intensity on T2WI for multiple areas in the tumor, indicating the possible presence of melanin. Therefore, the tumor was suspected to be melanoma.
In September 2018, a biopsy was performed on the patient under local anesthesia, and the pathology of the liver biopsy sample suggested that the tumor was malignant. Furthermore, immunohistochemistry proved that the tumor was malignant melanoma (Fig. ). The results of the immunohistochemical detection of the monoclonal antibody and oncogene revealed Vim(+), CD117(+), AFP(−), CD10(−), CEA(−), Glypican-3(−), Ki-67(+,50%), P53(+), CgA(−), SyN(−), CD56(+), PCK(−), HMB45(+), S-100(+), MelanA(+), CD34(+), CK7(−), CK19(−), CK18(−), CK8(−), CK20(−), CDX-2(−). Exhaustive examination of the skin, eyes, paranasal sinus, vulva, anus, genital tract, and gastrointestinal tract, and other parts was performed and no other possible primary site of malignant melanoma was detected. Then, the clinical diagnosis of PHM was made.
The tumor was located in the hepatic hilar region adjacent to the large blood vessels and bile duct, and the tumor invaded the portal vein. Because a resection was highly risky, conservative treatment was conducted. During hospitalization, the patient underwent symptomatic treatment, including anti-infection treatment, anemia correction, hypoproteinemia treatment, liver protection, stomach protection, and nutritional support.
The patient has been followed up for 6 months. In November 2018, 2 months after conservative treatment, the patient underwent another CT examination. The results of the CT scan revealed that the tumor size had substantially increased (Fig. ). A newly developed tumor appeared in the liver caudate lobe and invaded large blood vessels and bile ducts in the hepatic hilar region. In April 2019, the patient was reexamined by CT in another hospital. The results revealed peritoneal, omental metastases, and multi bone metastases. |
pmc-6636921-1 | A 49-year-old woman diagnosed with ileocecal valve adenocarcinoma in October 2015 underwent right hemicolectomy with extended lymphadenectomy and subsequent chemotherapy. Pathologic analysis revealed American Joint Committee on Cancer (AJCC) 7th stage pT4aN2bM0. After 17 months of regular follow-up, CT imaging showed newly developed right internal iliac lymphadenopathy with a short axis diameter measuring up to 13 mm (Fig. A). Positron emission tomography (PET) revealed 18F-fluorodeoxyglucose uptake and nodal metastasis was strongly indicated. Considering that it would be difficult to identify and access the target lesion during laparoscopic surgery due to the overlying right psoas muscle, preoperative CT-guided blue dye localization was performed. After local anesthesia and percutaneous puncture with a 22-gauge percutaneous transhepatic cholangiography needle (Hakko, Japan) via an anterior approach, 0.5 mL of pure PATENT BLUE V (Guerbet, France) was injected into the target node (Fig. B). However, the surgeon could not recognize the target node via the laparoscopic ports in the supra-umbilical, infra-umbilical, and left lower abdomen regions because the dye marker was mostly hidden underneath the psoas muscle. After placing an additional port site in the right groin area, a well-defined node with dye marker was identified. The size, shape and adjacent anatomical landmarks of the node corresponded to our measurement in preoperative CT. There was no other suspicious lesion in the intraoperative field. The target node was resected uneventfully (Fig. C). The pathology result showed metastatic adenocarcinoma, representing stage IV status. After 5 days of hospitalization, the patient was referred to another hospital for further chemotherapy. |
pmc-6636921-2 | A 55-year-old woman diagnosed with descending colon adenocarcinoma in January 2017 underwent left hemicolectomy with extended lymphadenectomy and subsequent chemotherapy. Pathologic analysis revealed AJCC 7th stage pT4aN1aM0. After 8 months of regular follow-up, the carcinoembryonic antigen level increased from 0.5 ng/mL to 5.9 ng/mL, and CT scan demonstrated suspicious local recurrence (Fig. A) and 3 sites of peritoneal tumor implants with surrounding adhesion (Fig. B–D). The subsequent PET scan also suggested the impression. Believing that it would be difficult to identify the smallest tumor implant (5 mm, Fig. D) during laparoscopic surgery, preoperative CT-guided blue dye localization with 0.3 mL of pure PATENT BLUE V was performed (Fig. E). The target lesion was clearly identified with the dye marker during the surgery (Fig. F). All tumor implants corresponded to preoperative CT in size and location were removed, along with the local recurrence. The pathology results all revealed adenocarcinoma. Her disease remained stable during the first 5 months of chemotherapy with folinic acid-fluorouracil-irinotecan (FOLFIRI) regimen. Small new growing implants were found in CT at 8-month follow-up. The treatment plan was changed to chemotherapy with FOLFIRI regimen plus targeted therapy with bevacizumab. Nevertheless, the treatment effect was limited and the latest CT showed disease progression in January 2019. |
pmc-6636978-1 | A 53-year-old man with chronic ITP presented with petechiae in both upper extremities for 3 days. He was diagnosed with ITP eight years ago; however, a high-dose steroid and immunoglobulin treatment failed. After the failed treatment, he underwent a splenectomy and received cyclophosphamide for 2 years. However, he experienced a thrombocytopenia recurrence and was prescribed danazol for 2 years, after which he received cyclosporine for refractory ITP. His platelet count was poorly controlled by cyclosporine, so eltrombopag, an oral TPO-agonist, was prescribed. Since he did not take his medication regularly, his platelet count did not return to the normal range. After self-discontinuation of eltrombopag, he was lost to follow-up.
About one year later, he was admitted to our hospital for multiple petechiae in his extremities, and his platelet count was 7000/mm3. He received romiplostim, a subcutaneously injected thrombopoietin (TPO) agonist, and his platelet count recovered to 65,000/mm3. After discharge, he visited our hospital for weekly romiplostim injections. Initially, he responded to the treatment, and his platelet counts increased to 80,000 to 100,000/mm3. However, over the course of the following year, his platelet counts progressively decreased, despite an increased romiplostim dose, to 9 μg/kg per week. During this period, he also developed anemia, due to decreased hemoglobin levels (9 g/dL). A peripheral blood smear showed a severe leucoerythroblastic reaction (Fig. ); however, the bone marrow aspiration smear was inadequate for evaluation, and the bone marrow biopsy demonstrated hypercellular marrow, with 90% cellularity, proliferation of pleomorphic megakaryocytes, and myelofibrosis (Fig. A). A reticulin stain and Masson trichrome stain revealed an increase in diffuse and dense reticulin fibers, with focal bundles of collagen (MF-2) (Fig. B, C). The patient was diagnosed with romiplostim-induced myelofibrosis. Since this diagnosis, romiplostim was discontinued, and the patient received platelet apheresis transfusions every three months.
Along with his worsening thrombocytopenia, the patient developed dyspnea and chest discomfort. He was referred to the cardiology department for an evaluation of his symptoms, and an echocardiography was performed, which showed normal results. However, the coronary angiography showed significant LAD (left anterior descending coronary artery) stenosis, and a percutaneous coronary intervention with a LAD stent insertion was performed. Due to his antiplatelet agent prescription, romiplostim was re-administered to improve thrombocytopenia. His platelet count recovered to 70,000/mm3 after the administration of romiplostim at 2 μg/kg, and he did not experience complications including myelofibrosis for 6 months. |
pmc-6637157-1 | A 70-year-old Japanese man, who had undergone esophagectomy with gastric conduit reconstruction via the antesternal route for spontaneous esophageal rupture 28 years previously, was hospitalized due to redness of the precordial skin, which had persisted for 1 month (Fig. a). Gastric juice was discharged from the gastric conduit through the skin fistula. He had taken low-dose aspirin due to a past history of left carotid artery obstruction and stenosis of the right carotid artery but had not taken proton pump inhibitors (PPIs). Laboratory studies showed mild inflammatory findings (WBC 9200/ul, C-reactive protein 5.7 mg/dl). No evidence of Helicobacter pylori infection was seen.
Computed tomography (CT) revealed a fistula between the thickened gastric conduit and skin (Fig. ). He was diagnosed with a gastric conduit ulcer that penetrated through to the chest wall and was managed conservatively with fasting, the administration of a PPI and antibiotics, and continuous compression of the gastric conduit over the skin with a cotton ball. Upper gastrointestinal fiberscopy on day 14 revealed the ulcer was located at the anterior wall of the middle gastric conduit (Fig. a). An esophageal biopsy revealed no evidence of malignancy.
The fistula healed with conservative management. Although the fistula relapsed twice on the 37th and 58th days, respectively, it healed with conservative management.
On the 174th day from the onset, discharge was recognized again. A fistula of 1.5 cm in diameter was observed on the operation scar of the precordium at the nipple line, from which the gastric mucosa was seen. The skin around the fistula was reddish (Fig. b). On the 196th day, when the infection was completely controlled, resection of the refractory cutaneous fistula was performed with the transfer of a pectoralis major muscle pedicle flap and a split-thickness skin graft.
First, a skin incision of 3 cm × 2 cm in size was made on the fistula. The area around the fistula was debrided and the gastric conduit was partially resected together with the fistula. The wall defect was closed with interrupted layer-to-layer anastomosis (3-0 PDS®). Then, the tissue defect resulting from the resection was filled with a right pectoralis major muscle pedicle flap with the 2nd to 4th penetrating branches of the internal thoracic artery as a vascular pedicle. Finally, the muscle pedicle flap was covered with a split-thickness skin graft harvested from the left thigh (Fig. ).
The patient had an uncomplicated postoperative course and was discharged on the 36th post-operative day. He has been free from relapse for 2 years (Fig. c). |
pmc-6637247-1 | An 18-year-old girl with a body mass index (BMI) of 12.9Kg/m2 weight, presented to the surgical clinic with a one-month history of recurrent vomiting and anorexia. On observation, the patient was pale, fatigued and thin built. For the last 3 years, her nutrition was limited to fluids only. Abdominal examination revealed a painless, mobile mass extending from the epigastric to the umbilical region and it was visible in rest. Abdominal palpation showed no muscular defense. Laboratory studies revealed: Anemia (hemoglobin was 9 g/dl) and electrolyte abnormalities (hypocalcemia, hypokalemia). The patient had a history of anemia without any other gastrointestinal disease. The girl did not declare anything about hair ingestion, but her parents mentioned that she had a history of chewing hair. A CT scan with oral contrast was performed which showed a large non-attached intragastric mass (). Based on the patient's history of hair ingestion, physical examination, and CT scan, a diagnosis of trichobezoar was made and the patient underwent surgical removal of the intragastric mass. During surgery, excoriation and bleeding were observed in the mucus of the stomach. Anterior gastrotomy was performed, and large hairball mass (30 × 10 cm) that was occupying the whole stomach was removed (). After 6 months of follow up, the patient is doing well, her weight improved from 35 kg to 65 kg with a BMI of 23.8 Kg/m2, and now she is studying at college. |
pmc-6637291-1 | A 65-year-old male patient was found collapsed. The case was initially managed by a paramedic ambulance team. Manual CPR was performed for nine minutes, and a laryngeal mask was inserted. Initial rhythm analysis showed ventricular fibrillation, and the patient was defibrillated three times. Upon arrival of the fire service, an MCCD and a resuscitator were attached. SpO2 and etCO2 were measured and recorded.
Figure 1 illustrates the first three minutes of resuscitation by the fire service prior to the attachment of the MCCD. In this initial period, ventilation was matched to manual chest compression. The respiration frequency varied with the manual CPR, ranging between 75 and 100 breaths per minute. EtCO2 was 20 mmHg for the first 30 seconds and then increased to 40 mmHg for the remainder of the recording. After 25 minutes of CPR, return of spontaneous circulation (ROSC) occurred and the patient was transported to a nearby hospital. |
pmc-6637291-2 | A 64-year-old unconscious male patient with cardiac arrest. The time between EMS notification and arrival of the fire service was eight minutes. An MCCD and a facemask together with a resuscitator were attached, and CPR was commenced.
Figure 2 illustrates fifteen minutes of continuous CPR. Interruptions in the recording reflect interruptions in CPR during heart rhythm analysis and endotracheal intubation. The oxygen saturation ranged between 80–97%; however recordings included accidental removal of the pulse oximeter finger clip, poor circulatory status, hypothermia and vasoconstrictive medications. The etCO2 remained between 20 and 30 mmHg, which suggests sufficient CPR. EtCO2 increased after each interruption in CPR, as the CO2 accumulates due to decreased exhalation and lack of blood circulation. Defibrillation was not indicated, and upon arrival of the physician-staffed ambulance service, the patient was intubated and epinephrine administered. After 27 minutes, CPR was discontinued and the patient was declared deceased. |
pmc-6637291-3 | A 79-year-old male patient collapsed outside. A paramedic ambulance was first on scene, and manual CPR was commenced and continued for 11 minutes. After the arrival of the fire service, the LUCAS 2® and Oxylator® HD were attached.
In Figure 3 , the ventilator curve demonstrates ventilation with a frequency of 100 breaths per minute, which is identical to the compression rate. The periodic decrease in respiratory rate was mostly due to an airway leak. Oxygen saturation was recorded intermittently, however remained between 83% and 95%. The etCO2 was between 22–42 mmHg, which is consistent with good CPR. The increase at the end of the recording could be an early indicator of an ROSC. The patient was intubated by the physician and required defibrillation and intravenous epinephrine. After 40 minutes the patient had ROSC and was transported to a nearby hospital. |
pmc-6637291-4 | A 55-year-old intoxicated male patient collapsed outside. The paramedic ambulance was first on scene, and initial resuscitation was commenced. Initially, the patient was ventilated manually via a facemask and bag. Upon arrival of the fire service, LUCAS 2® and Oxylator® HD were attached (Figure 4 ).
In this case the patient was ventilated manually for the first three minutes with a respiratory frequency of 16–19 breaths per minute. Initially, etCO2 was 20 mmHg decreasing to 15 mmHg in the first three minutes. Oxygen saturation was between 60% and 80%. After three minutes the respiratory rate increased to 100 breaths per minute by activating the automatic mode of the Oxylator® HD. Later on, the respiratory rate decreased to 30 breaths/minute, due to a leak or airway obstruction. The end-tidal CO2 increased when in automatic mode to 15–30 mmHg. The oxygen saturation was recorded for a short period of time and was 79%. The patient was defibrillated twice, and epinephrine was administered. After 30 minutes of CPR, the patient was declared deceased by the emergency physician. |
pmc-6637291-5 | A 45-year-old unconscious male patient with cardiac arrest. The initial response and resuscitation was conducted by the ambulance service. The fire service arrived and attached an MCCD and resuscitator to the inserted laryngeal mask.
Figure 5 illustrates the period of continuous resuscitation between 18 and 25 minutes. The ventilation frequency was constant at 100 breaths per minute. Between 18 and 23 minutes, etCO2 was 21–30 mmHg, indicating good-quality CPR. After 23 minutes etCO2 increased to 43 mmHg, which might be an early indicator of ROSC. Pulse oximetry was not performed or was unable to adequately measure saturation. Initial rhythm strip analysis demonstrated ventricular fibrillation. The patient was defibrillated eight times and received multiple doses of intravenous epinephrine. After 25 minutes, the patient had ROSC and was transported to a nearby hospital. |
pmc-6637291-6 | A 65-year-old male patient had a witnessed collapse and severe chest pain. The ambulance service initiated manual CPR. Initial rhythm strip analysis demonstrated asystole. After eight minutes, the fire service arrived at the site. Following 20 minutes of manual CPR, an MCCD and a resuscitator were attached (Figure 6 ).
Ventilation frequency varied around 100 breaths per minute, despite being attached to an MCCD and resuscitator. For approximately 36 seconds there was a decrease in the respiratory rate to 40 breaths per minute. This may be due to a leak in airway management, airway obstruction or the patient requiring a higher airway pressure than 15 cm H2O. Smaller variances in the respiratory rate (down to approx. 95 br/min for some seconds) occurred several times. Nevertheless, the etCO2 was almost constant around 40 mmHg. Epinephrine was administered several times. After 24 minutes of CPR, the patient had ROSC and was transported to a nearby hospital. A pulmonary embolism was diagnosed, and despite thrombolysis, the patient was subsequently declared deceased. |
pmc-6637291-7 | An 84-year-old male patient collapsed outside. A passer-by witnessed the incident, notified emergency services and commenced CPR. The time between call and arrival of the fire service was eight minutes. Initial rhythm strip analysis demonstrated asystole. The resuscitator was attached immediately to a facemask by a firefighter (Figure 7 ).
The patient received a ventilation rate of 100 breaths per minute. This rate corresponds with the MCCD frequency, and ventilation was being triggered in each decompression phase. The drop in the ventilation rate in the initial part was due to a leak in the airway circuit. During the period of automatic ventilation, oxygen saturation was between 80 and 90%. Thus, the patient was adequately ventilated. The etCO2 ranged between 22–30 mmHg from the beginning of the recording till 23:28 minutes after, suggesting good-quality CPR with adequate circulation. During resuscitation, the patient received intravenous epinephrine. After 23:28 min there was an increase in etCO2 up to 43 mmHg, an early indicator of ROSC. The steep decrease afterwards was due to the cessation of ventilation and chest compressions, and hence a cessation in CO2 exhalation. The patient had an ROSC after 25 minutes and was transported to a nearby hospital. |
pmc-6637323-1 | A 36-year-old woman, right-handed, sustained a right shoulder trauma after a fall from stairs. She presented to our emergency department with the right arm fixed above the head. At physical examination, it was not associated with vascular and neurologic injury (Figure A). The shoulder radiographs showed a subglenoid inferior dislocation of the shoulder joint (Figure A). Under general anesthesia, a closed reduction was performed by axial traction. After reduction, the distal pulses and neurological status were normal. The arm was maintained in a sling for 3 weeks. The outcome at 10 months showed a painless shoulder with a full range of motion (Table ). |
pmc-6637323-2 | A 38-year-old man fell down on his left shoulder from a moving bus. The physical presentation (Figure B) and the shoulder radiographs (Figure B) showed a subglenoid inferior dislocation of the shoulder joint without any associated complication. The shoulder was reduced by an axial traction under sedation. The patient left the hospital and never came back. |
pmc-6637323-3 | A 42-year-old right-handed man, driver in public administration, felt down from his four-meter roof. He sustained a pelvic trauma, a right shoulder trauma, and a right ankle trauma. Physical examination revealed a horizontal unstable pelvic, a fixed right arm above the head, an elbow wound, and a pain swelling right heel (Figure C). The distal pulses were palpable but it was a motricity and a sensibility deficit in the axillary nerve territory. Radiographs revealed a Young-Burgess anteroposterior type 2 (APC-2) pelvic disruption, a right calcaneal shear fracture, and an erecta inferior dislocation of the right shoulder joint (Figure C). A closed reduction was undertaken by the Nho two-step manoeuver without anesthesia. Firstly, the humeral head was driven anterior, and then, this secondary anterior dislocation was reduced by Kocher manoeuver. The shoulder was maintained in a sling for 3 weeks. After 24 months, the shoulder joint remained stable with no other dislocation occurrence but still suffering a persistent palsy of axillary nerve. The electromyography (EMG) confirmed a neurotmesis. Pelvic and calcaneal lesions were treated conservatively with a normal gait at 4 months. |
pmc-6637323-4 | A 57-year-old housewife slipped down on abducted left arm. She complained a severe pain on her left shoulder and the upper limb lied at 180° of abduction (Figure D). No neurovascular complication was associated. Radiological views showed an erecta inferior displacement of the humeral head (Figure D). A closed reduction was achieved by axial traction. A simple sling was used during 3 weeks for immobilization. She recovered her shoulder with full range of motion after 12 months. |
pmc-6637326-1 | A 76-year-old man presented at our hospital with an abnormal increase in white blood cell count (WBC) during regular follow-up after prior renal cell carcinoma surgery. His history was only mild hypertension, and there was no hepatic disease like chronic hepatitis such as hepatitis B or C. In addition, there was almost no drinking history with one beer of 350 mL a week. On September 27, 2012, his white blood cell count (WBC) was elevated to 36,200/μL, and he was clinically diagnosed with chronic phase Philadelphia-positive CML. On October 10, 2012, blood tests, bone marrow examination, and imaging findings confirmed CML. Initially, nilotinib was administered to the patient at a dose of 600 mg twice a day (BID). Two months after nilotinib administration, hepatic dysfunction (grade 3) was observed. At that time, plasma concentration of nilotinib was determined by a high-performance liquid chromatographic method as described previously. Using this method, the trough plasma concentration of nilotinib was 3517 ng/mL (Figure ). This value was markedly higher than the mean trough concentration (615 ng/mL) reported in a phase I/II trial. Due to hepatic dysfunction and elevated plasma nilotinib concentration, nilotinib was discontinued on December 10. On December 17, hepatic function was improved and nilotinib was restarted at a lower dose of 300 mg BID. Twenty days later, plasma nilotinib concentration was 726 ng/mL, which was significantly lower than the previous level and close to the reported mean trough concentration (615 ng/mL). On January 17, 2013, the proportion of Philadelphia chromosome-positive cells in bone marrow was 0%, and complete cytogenetic response was achieved. Thereafter, even when nilotinib was suspended due to influenza infection, TDM was utilized at the time of drug resumption and dosage adjustment. On March 14, major molecular response (BCR-ABLIS: international scale ≤0.1%) was achieved without any adverse event. Eleven months after the start of nilotinib therapy, complete molecular response (BCR-ABLIS≤0.0032%) was achieved. The treatment was continued until January 2018. Since then, the attending physician decided to stop nilotinib and followed up, because the patient was remained in remission for more than 4 years after achieving complete molecular response. There has been no disease progression, and his condition is stable. |
pmc-6637331-1 | A 65-year-old male with diabetes mellitus type 2, hypertension, cryptogenic cirrhosis, and possible heart failure presented with shortness of breath, worsening fatigue and dyspnea on exertion for several months. He noted worsening orthopnea but denied chest pain, palpitations, fevers, chills, night sweats, diarrhea, melena, or hematochezia. Physical exam revealed a nontender but distended abdomen with a fluid wave and hepatomegaly. Venous stasis changes were present in the lower extremities along with 2 mm pitting edema. Electrocardiogram (EKG) showed normal sinus rhythm with low voltages, a right bundle branch block, and left posterior fascicular block (Figure ). Troponin T was elevated to 0.13 ng/mL (<0.01 ng/mL) but remained stable at 0.11 ng/mL. Probrain natriuretic peptide (proBNP) was elevated to 8870 pg/mL (<125 pg/mL). Serum chemistries were only notable for a creatinine of 1.71 mg/dL (0.5-1.3 mg/dL), albumin 2.8 g/dL (3.5-5.0 g/dL), total protein 7.2 g/dL (6.0-8.0 g/dL), alkaline phosphatase 341 U/L (40-129 U/L), AST 24 U/L (10-40 U/L), and ALT 15 U/L (10-55 U/L). Serum protein electrophoresis was completed and revealed a homogeneous band in the beta region (2.4 g/dL) identified by immunofixation as IgG/Lambda. Urine protein electrophoresis showed the same IgG/Lambda band. Serum light chains were elevated—kappa light chains 63.1 mg/L (3.3-19.4 mg/L) and lambda light chains 287.1 mg/L (5.7-26.3 mg/L). Abdominal ultrasound showed a coarsened and nodular liver. Transthoracic echocardiogram revealed a left ventricular ejection fraction of 35% with diffuse hypokinesis, wide-open tricuspid regurgitation, left ventricular posterior wall (LVPW) thickness 14 mm (6-10 mm), and interventricular septal thickness 12 mm (6-10 mm) (Figure ). Coronary angiogram was without evidence of coronary artery disease. Fat pad, liver, and cardiac biopsies were obtained, all of which showed apple-green birefringence under polarized light (Figure ). Electron microscopy confirmed the diagnosis of AL amyloidosis. The patient was started on cyclophosphamide-bortezomib-dexamethasone (CyBorD) but eventually succumbed to his disease several months later. |
pmc-6637335-1 | A 7-year-old girl presented to the emergency department with a painful, swollen, and grossly deformed left elbow after a 3-feet fall in the school playground. Her range of motion at the elbow was restricted by pain, but she maintained full range of motion and sensation at the wrist and fingers. Her radial pulse was palpable and equal to that of the contralateral side. X-rays of the elbow revealed an anterior and lateral transolecranon elbow fracture-dislocation without significant comminution (Figure ). The patient underwent immediate closed reduction utilizing inline traction of the distal forearm, followed by a posterior force on the forearm and an anteriorly directed force on the distal humerus. The patient was immobilized in a long arm cast in neutral rotation and made nonweight bearing (Figure ). After a thorough discussion, the surgeon of record and the patient's parents agreed on nonoperative management with close observation.
At 1 month, the patient was transitioned to a splint. At 6 weeks, the splint was removed and gentle range of motion was started. At the 3-month mark, the patient was noted to have full flexion, supination, and pronation. The patient developed flexion contracture of approximately 30° which resolved after a subsequent course of physical therapy. By 5 months, the patient resumed participation in gym class and had full range of motion at the elbow joint. Given the excellent clinical examination, the parents agreed to continue with nonoperative management with regular follow-ups in clinic spaced 3-4 months apart. |
Subsets and Splits
Exclude ER emergencies
Retrieves 100 descriptions that do not contain the terms 'ER' or 'emergency', providing a basic filter of the dataset.