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pmc-6614113-1 | A 49-year-old lady with underlying non-alcoholic fatty liver disease (NAFLD) and GERD underwent LSG. She had a BMI of 35 kg/m2. Because of her lower BMI, the procedure was supposed to be a stand-alone procedure. On postoperative day three, she developed sudden onset abdominal pain, abdominal distension, and had a few episodes of passing loose stools. A leak was suspected, and an urgent contrast-enhanced computed tomography (CECT) of the abdomen and pelvis was performed. It revealed a collection within the lesser sac in keeping with a leak, possibly at the distal surgical site. There was no evidence of a stomach volvulus from the CT (, ). The patient was resuscitated with fluids prior to surgery. She was then taken back to the operating room for laparoscopic exploration, and a small staple-line leak was noted adjacent to the GOJ. There were 2 L of seropurulent fluid in the peritoneal cavity, and there was a sleeved stomach volvulus causing a functional obstruction.
We performed a salvage RYGB on her, and a repeat CECT of her abdomen and pelvis on day four after surgery revealed the resolution of the previously seen lesser sac collection, with no evidence of extraluminal contrast. She had persistent tachycardia postoperatively and subsequently deteriorated clinically. This was likely due to severe intra-abdominal sepsis, which leads to multiorgan failure despite intensive care. Unfortunately, she passed away on postoperative day 20 (of the second operation) from septic shock, secondary to intra-abdominal sepsis. |
pmc-6614113-2 | A 39-year-old lady with a BMI of 74 kg/m2 underwent LSG. As she was in the super-super obese category, the procedure was supposed to be a staged procedure. She had underlying severe obstructive sleep apnoea (OSA), with an apnoea-hypopnoea index (AHI) of 45.5/hour, newly diagnosed type 2 diabetes mellitus, and essential hypertension. She did not require post-operative intensive care and was discharged well on postoperative day three. She was tolerating a liquid diet at home but came back on postoperative day 10 with complaints of left hypochondrium abdominal pain. An urgent CECT of the abdomen and pelvis revealed air pockets adjacent to the GOJ region with a small pooling of contrast, which was suspicious of a leak (, ). She was started on broad-spectrum intravenous antibiotics and fluid resuscitated before definitive intervention was performed.
An urgent gastroscopy was performed and revealed a suspicious erythematous area just distal to the GOJ at the staple line. A 22 cm length oesophageal covered stent (Taewoong MEGA™) was deployed. Percutaneous drainage of the intra-abdominal collection was subsequently done. The stent was removed after five weeks, and a repeat gastroscopy revealed a walled-off perforation measuring 0.5 × 0.5 cm at the proximal gastric tube (). A 24 cm Gastro seal™ (M.I Tech) was placed. The stent was then removed after five weeks when the leaking site had healed. Patient was discharged well and during her last clinic follow up after six months, she has no abdominal symptoms and her BMI was 54 kgs/m2. |
pmc-6614204-1 | A 10-year-old boy was examined by a neuro-pediatrician specialist 1 year before the current study and was diagnosed with DCD according to the Diagnostic and Statistical Manual of Mental Disorders 5th edition (DSM-5) (). The boy had no other diagnosis of a general medical condition (e.g., cerebral palsy, hemiplegia, and muscular dystrophy), other developmental disorder (e.g., autism spectrum disorder, attention deficit hyperactivity disorder, and learning disorder), or intellectual disability. The experimental procedures were approved by the local ethics committee of the Graduate School and Faculty of Health Sciences at Kio University (approval number: 15–33). There were no foreseeable risks to the patient. No personal identification information was collected. We explained the study to the patient and his parents. The patient and his parents provided written informed consent for participation in this study and publication of this study. The procedures complied with the ethical standards of the 1964 Declaration of Helsinki regarding the treatment of human participants in research.
The boy's motor function and depression tendency were evaluated using the Movement Assessment Battery for Children-2nd edition (M-ABC-2) () and Depression Self-Rating Scale for Children (DSRS-C) (), respectively, 1 day before carrying out the current study ().
The patient's parents also completed the Japanese version of the Developmental Coordination Disorder Questionnaire (DCDQ) (), Social Communication Questionnaire (SCQ) (), and Attention-Deficit Hyperactivity Disorder Rating Scale (ADHD-RS) (), 1 day prior to conducting the current study to evaluate the patient's motor function (), autism spectrum disorder (ASD) traits (), and ADHD traits (), respectively (). In addition, the patient performed temporal order judgment (TOJ) and delayed visual feedback detection tasks to evaluate sensory-dependent tendency and visuo-motor temporal integration, respectively ().
M-ABC-2 is an international standard evaluation battery for evaluating DCD diagnostic criteria A of DSM-5 () and DCDQ is a parent's rating scale for evaluating DCD diagnostic criterion B (). In order to satisfy the DCD diagnostic criteria A of DSM-5, it is recommended that it be less than the 16th percentile as measured by M-ABC-2. The Japanese version of M-ABC-2, which is now being developed (), has not been standardized. Thus, the original UK data were used when raw scores were converted to a standardized score or percentile. In order to satisfy the DCD diagnostic criterion B of DSM-5, it is recommended that it is 57 points or less as measured by DCDQ. The patient was in the 9th percentile of the M-ABC-2 and had 29 points according to the DCDQ; thus, he was diagnosed with DCD. The score of SCQ was nine points, ASD traits were low. The percentile of the ADHD-RS was 88th percentile for the inattention item, 84th percentile for the hyperactivity-impulsivity item, and 87th percentile for the total. The score of DSRS-C was three points, and no depression tendency was observed. He was not receiving any ongoing habilitation or medication therapy at the time of participating in the current study. |
pmc-6614379-1 | We report a case of a 56-year-old man presenting acute fever, cutaneous rash, conjunctival hyperemia, intense joint pain, and self-reported use of non-steroidal anti-inflammatory drugs (NSAID) in the initial days of symptoms. The patient reported that for the last 30 days before Hospital admission, he started presenting fever, headaches, paresthesia, and pain in the right arm with visible red spots on the skin. These skin lesions worsened and spread through the lower limbs and trunk within a period of 10 days. The patient evolved to hypotension with some Hospital admissions and discharges. On the 15th day after skin disease onset, he developed thrombocytopenia, liver dysfunction with International Normalized Ratio (INR) of 1.45 and Prothrombin Time of 56%, edema in his hands and feet and hemorrhagic bullous lesions on the skin of the upper and lower limbs (), being admitted to the Intensive Care Unit. Immediately, therapy was started with meropenem and vancomycin, then maintained for 6 days, during which the patient presented some febrile peaks. Subsequently, intravenous administration of Intravenous Immunoglobulin (Human), 5% (Flebogamma® 5% DIF, Instituto Grifols S.A., Barcelona, Spain) at 400 mg/Kg/day restarted for 5 days. Antibiotic therapy started again for 5 days. The patient showed a progressive increase in platelet levels from 43,000 to 201,000 and total leukocyte count, together with an important reductions of the edema, necrosis, and erythema. Ten days after globulin administration, a substantial improvement of the bullous lesions was observed (). The patient evolved with aphasia, thus being considered to be suffering a transient acute ischemic stroke. Laboratory analysis followed the Pan American Health Organization (PAHO) recommendations, in which a single anti-CHIKV IgM-positive test (collected during acute or convalescence phase) is sufficient for confirmation of any suspected case of CHIKV (). The blood test returned positive serology for Dengue (IgM−/IgG+) and Chikungunya (IgM+) at the 16th day after symptom onset, but results were negative for other infectious diseases and blood culture. Notably, laboratory tests excluded other confounding diseases such as: malaria, leptospirosis, rheumatic fever, septic arthritis, Zika, and Mayaro. Moreover, there is no report showing any Mayaro case detected in the state of Paraíba. This would definitively exclude the possibility of a cross-reactive IgM serology against another alphavirus as discussed elsewhere (). No comorbidities were reported, except for alcoholism. Throughout hospitalization, imaging exams were normal and no vasoactive drugs were administered. Furthermore, no lesions were observed in oral, genital, or conjunctival mucosa. Nikolsky's sign was positive. A diagnosis of Stevens Johnson syndrome-Toxic epidermal necrolysis-like features was discarded. The patient was discharged and has not presented any other clinical sign of the disease. |
pmc-6614489-1 | A 34-year-old male second-generation Turkish immigrant was sent for a court-ordered forensic-psychiatric evaluation following allegations of coercion against a former girlfriend. Specifically, he had demanded 1.2 million Swedish kronor (equivalent to about €115,000) and two mobile phones; if his demands were not met, he threatened to destroy the girlfriend’s and her family members’ vehicles. Prior to the index offense, since the age of 15 (the age of criminal responsibility in Sweden), the client had repeatedly engaged in criminal activity, resulting in a total of four previous prison sentences and numerous non-custodial sentences. By the time of the evaluation, the client had 25 entries to his name in the Swedish crime registry, including verdicts for rape, assault, and drug offenses. There had been no previous psychiatric contacts, although the client appeared to use cannabis on a daily basis, indicative of a severe addiction problem. The client believed himself to be in good physical condition with the exception of a hereditary, progressive and paternally transmitted bilateral hearing impairment, for which he used hearing devices. His schooling had been problematic owing to learning disabilities, truancy, drug abuse, poor parental support, and criminal activities. At the time of the index offense, the client was single and unemployed and resided with his father in a small apartment. During the course of the forensic-psychiatric evaluation, it was revealed that the client’s brother suffered from HD, and that his mother most likely had suffered from the same disease prior to her death a few years earlier.
The client was admitted to a ward at the forensic-psychiatric evaluation unit, where he was observed for several weeks and subjected to diagnostic interviews, as well as psychological assessments and laboratory investigations. Gross neurological examination revealed no evident motor or sensory deficits, although moderate facial and bilateral limb dystonia was identified. Choreatic movements, disguised as purposive gestures, were seen in the upper limbs. Further, there was a moderate slowing of saccade initiation and velocity, both horizontally and vertically. Subsequent assessment of his admission status from case notes revealed a total score of 27 points on the Unified Huntington’s Disease Rating Scale, which assesses four domains of performance and capacity in HD: motor and cognitive function, behavioral abnormalities, and functional capacity (). A cognitive impairment became evident upon psychometric testing, as well as during interviews, with results from the former pointing toward the mental capacity of a 7-year-old. In addition, his speech was staccato, and his description of being involved in a “game” in which the plaintiff, a policeman and employees at the forensic-psychiatric evaluation unit were also participating was adjudged to be a delusion. Further, his affect was generally blunted yet characterized by an easily evoked hostility.
In interviews, the client—who upon arrest for the index offense began, while in custody at the unit, serving a prison sentence in accordance with a previous verdict—insisted that his release was imminent, suggesting that he did not fully grasp his legal situation. Information gathered from authorities and relatives described the onset of neurological signs 3 years prior to the index offense, followed by a gradual worsening of the client’s state. Genetic analysis, performed on account of clinical signs of a movement disorder, disclosed a pathological 48-repeat cytosine-adenine-guanine (CAG) expansion in one of the alleles of the HTT gene, confirming a diagnosis of HD. Computerized tomography of the brain showed global atrophy of the cortex but no apparent pathology in the caudate nucleus or putamen, regions commonly affected in HD. |
pmc-6614526-1 | A 71 year old male patient suffered from an extensive tissue defect at the dorsum of the left hand as a result of a bicycle incident. After multiple debridement and wound conditioning using negative pressure wound therapy the defect had to be reconstructed by a large free anterior lateral thigh flap from the left thigh. During flap harvesting two distant main perforators were detected, located very lateral within the flap. Following complete flap dissection the first ICG measurement was performed with the flap left in place at the thigh. Thus, the special perforator constellation and the borders of the adjacent perforasomes could be determined. clearly displays the perforasome border nourished by the proximal perforator in the flap which was not to judge sufficiently by clinical signs. After a few seconds the distal perforasome was also perfused shown by an uptake of the ICG dye. Due to this analysis both perforators were then included in the flap.
The flap was anastomosed to the left radial artery in an end-to-side fashion as well as to concomitant recipient veins. Hereupon another ICG measurement revealed a well-perfused flap without changes of blood flow pattern compared to the point after flap harvesting. The perforasome constellation was confirmed and the flap exactly trimmed to the defect size dependent on the ICG perfusion pattern (). |
pmc-6614526-2 | A 49 year old female patient presented a progressive lymphedema at the right leg refractory to conservative measures. In the medical history 4 years ago a laparoscopic hysterectomy and adnexectomy as well as a radical pelvic lymphadenectomy on the right side were performed because of a uterine cervical carcinoma. Despite conservative treatment the lymphedema exacerbated resulting in functional impairment and loss of quality of life. After inconspicuous follow up care and lymphoscintigraphy scan a microsurgically transplanted omentum majus flap containing lymph nodes and lymph vessles was planned. Using a laparoscopic approach the omentum majus flap was raised including the right gastroepiploic artery and vein. The flap was then anastomosed to the right femoral artery and vein. shows the ICG measurement after anastomosis. The well-perfused vessel arcades via the right gastroepiploic artery could be defined, whereas ICG angiography revealed the mal-perfused parts of the omentum majus which could not be determined by clinical signs. Especially in free flaps where no skin is included and peripheral bleeding on the wound edges is not common as well as residual perfusion is not sufficient for tissue survival, conventional clinical judgement by means of capillary refill or color change is not a reliable option. Discarding of too much or too less tissue is the possible consequence in these cases. Finally after discarding mal-perfused tissue parts the omentum majus was placed and spread out in the subcutaneous tissue to enable lymph vessels to grow in and establish a new lymph collector for the right lower extremity. |
pmc-6614526-3 | In a 55 year old female patient invasive breast cancer was diagnosed in her right breast. Neoadjuvant chemotherapy was recommended followed by modified radical mastectomy and radiotherapy. After an uneventful follow up period without tumor relapse during 1 year after mastectomy the patient presented for autologous breast reconstruction with abdominal tissue. A preoperative computed tomography angiography showed a strong lateral perforator from the inferior epigastric artery. Finally a so called DIEP flap (deep inferior epigastric artery perforator flap) was harvested based on the aforementioned lateral perforator on the left side of the abdomen. Because it was hypothesized that lateral located perforators do not constantly perfuse the flap tissue across the midline and often a possibly large flap volume is necessary especially in thin patients, ICG measurement is used to define the perfusion pattern.
In this case ICG angiography showed a well perfused flap area across the midline and flap shaping was performed due to the ICG dye uptake to gain the maximum flap tissue. After anastomosis of the flap to the internal mammary artery and vein in an end-to-end fashion the repeated ICG measurement presented patent anastomoses and a well perfused DIEP flap also in the peripheral zones with no relevant change of the blood flow pattern (). |
pmc-6614526-4 | An 83 year old female patient presented with a skin necrosis at the right knee and an infection of her knee joint prosthesis after multiple operations necessitating replacement of the joint prosthesis due to relapsing implant infections in the past. Because a total knee arthrodesis was not possible due to relevant shortening of the lower extremity and a high risk of osteomyelitis, wound conditioning using negative pressure wound therapy and defect reconstruction was planned to salvage the knee prosthesis and to prevent limb amputation as an ultima ratio procedure. In an interdisciplinary approach with the department of orthopedic surgery the mobile parts of the prosthesis were changed and the defect was closed with a free myocutaneous latissimus dorsi flap. The whole latissimus dorsi muscle was harvested with a large cutaneous flap island as this was necessary due to the defect size. Also in this case ICG measurement was done after harvesting and after anastomosis to the superficial femoral artery and vein. Based on the perfusion analysis the very peripheral parts of the muscle had to be discarded, whereas the cutaneous island showed normal dispersion of the dye indicating normal perfused tissue (). |
pmc-6614545-1 | Fifty-five years old female was admitted to the Department of Thoracic Surgery in July 2018 with heaviness in the right hypochondrium. In 2010, she underwent radical curative surgery for pT3N0M0 endometrial cancer (hysterosalpingooophorectomy and greater omentum resection). Histological examination depicted an endometrial glandular squamous carcinoma with invasion of the uterine myometrium. The adjuvant combined radiation and chemotherapy was as follows: 40 Gy for pelvis, 20 Gy for vaginal stump and three courses of cyclophosphamide, adriamycin, 5-fluorouracil (CAF scheme). Annual check-ups have not shown any signs of relapse for seven years. In May 2018, the patient noted a new dull, nagging pain in the right hypochondrium. Abdominal ultrasound revealed a 22 × 56 mm focal liver lesion in the SVIII. Contrast-enhanced MDCT of the chest and abdomen was performed to clarify lesion’s nature, location, and size. The study revealed a large, well-circumscribed tumor in the SVIII of the liver. Positron emission tomography combined with computed tomography was used to determine the lesion’s metabolic activity and exclude distant metastases. The scan visualized a large, hypermetabolic 11.4 × 13.5 × 10.7 cm lesion of the right hemidiaphragm. We hypothesized that the tumor originates from the diaphragm and invades the right liver lobe, deforming its upper contour in a wavy manner. Computed tomography suggested a clear the boundary between the diaphragmatic tumor and liver in the form of the fatty tissue layer. Post-processing with volume rendering depicted this relationship more vividly ().
Given the lesion’s size, solitary nature, close contact with the right liver lobe, clear tumor margins without lung involvement, the multidisciplinary team decided to treat the case surgically. The team initiated the video-assisted thoracoscopic surgery procedure with subsequent conversion to the open right lateral thoracotomy through the fifth intercostal space due to lesion’s size. Intraoperative revision revealed a tumor growing from the dome of the diaphragm with clear even contours and without any signs of lung involvement. The diaphragmotomy was performed: the tumor is closely adjacent and connected with the right liver lobe (SVII, SVIII) by loose adhesions without signs of invasion (). The tumor was separated from the right liver lobe by sharp dissection. The right diaphragmatic dome resection along with the neoplasm had the minimal resection margin of one centimeter. The gross specimen measured 9.5 × 12.5 cm and was forwarded to the pathologist (). We sutured the diaphragmatic defect with local tissues (separate U-shaped seams without tension). The operation concluded by forming right diaphragmatic dome at the seventh intercostal space ().
The postoperative period was unremarkable. Physiotherapeutic inhalations with antiseptic solutions were performed to prevent postoperative complications. The pleural drainage was removed, and the patient mobilized on the second day. The follow-up chest radiograph was within the normal limits, right hemidiaphragm located at the seventh intercostal space. Therefore, the patient was discharged on the seventh-day post-operation. On the follow-up chest and abdominal contrast-enhanced CT at six months after the operation, there were no signs of recurrence.
The morphological study showed that the tumor had been an endometrial carcinoma metastasis to the diaphragm.
Immunohistochemistry was as follows:
Estrogen receptor (clone SP1, Cell Marque) - IS +++, 3 points; PS 40%, 4 points; TS = 7 points; Progesterone receptor (clone Y85, Cell Marque) - IS +++, 3 points; PS 40%, 4 points; TS = 7 points (). |
pmc-6614953-1 | The patient, a 67-year-old male, underwent a colonoscopy after a positive Fecal Immunochemical Test result in the province's colon cancer screening program. On review of systems, the patient reported a change in bowel habits, specifically cramping and a sense of urgency. His past medical history was unremarkable apart from hypertension and hyperlipidemia. Colonoscopy revealed a stricturing malignancy in the distal sigmoid colon. Biopsies were diagnostic of colonic adenocarcinoma. A CT scan of the chest, abdomen, and pelvis demonstrated a 6.5 cm segment of circumferential wall thickening in the sigmoid colon, 20 cm from the anal verge. The CT scan also identified an incidental, 6.9 x 4.8 cm rim calcified cystic lesion arising from the dome of the urinary bladder, suspected to represent a bladder diverticulum or a urachal cyst (CT scan illustrated in ). At the time of surgery, there was no evidence of pseudomyxoma peritonei or peritoneal carcinomatosis. The sigmoid colon cancer and the cystic lesion at the dome of the bladder were separate entities and were not physically connected. A sigmoid resection with primary anastomosis was performed. The cystic lesion at the dome of the bladder was resected separately during the same procedure and sent as a second specimen to pathology. |
pmc-6614958-1 | Our patient is a 34-year-old Caucasian female with a past history of attention deficit hyperactivity disorder, hypertension, irritable bowel syndrome, and anxiety disorder who had a long standing history of dry skin and abnormal menstrual periods. She is nulligravida and had menorrhagia with irregular menses and increasing polymenorrhea, several months prior to presentation. She also had a history of chronic diarrhea alternating with constipation but had experienced a recent 20 lb weight gain. 1 month prior to presentation, she developed galactorrhea with breast enlargement and tenderness. 3 weeks prior to presentation, evaluation by her gynecologist revealed a thyroid stimulating hormone (TSH) >150 mIU/mL (0.5-5.5) free thyroxine (FT4) 0.4 ng/dL (0.61-1.82) and prolactin 29.4 ng/mL (3.34-26.72). An MRI of the pituitary at an outside facility revealed an enlarged pituitary gland measuring 14x12 mm, abutting the optic chiasm (Figures and ). She presented to the hospital with a 1-day history of transient blurry vision, apraxia and aphasia, transient chest tightness, and increasing anxiety. The vision changes were described as an inability to focus on near objects with no reported loss of visual fields. She denied any pain or swelling in her neck, recent viral infections, excessive iodine intake, exposure to iodinated contrast agents, lithium or amiodarone, and any history of prolonged steroid use. She denied any increasing skin tags, changes in appearance or changes in ring or shoe size. There were no symptoms suggestive of adrenal insufficiency. Her medications included amphetamine, nebivolol, clonazepam, citalopram, hydrochlorothiazide, polyethylene glycol, and levocetirizine. Family history was significant for hyperthyroidism in her sister but was otherwise unremarkable for any pituitary disorders.
On physical exam, she had a body mass index of 41.53 kg/m2, blood pressure of 110/89 mmHg, heart rate being regular at 62 beats per minute, and breathing 14 breaths per minute with oxygen saturations of 96% on ambient air. She was obese and in no distress, and oriented to time, place, and person. There was no obvious thyromegaly. No abdominal stria was noted and overall exam was unremarkable other than dry skin. Her neurological exam was normal and there were no obvious visual field deficits on bedside examination. Laboratory evaluation showed a () TSH of 251.21 mIU/mL (0.5-5.5), total T4 of 2.07 μg/dL (4.87-11.72), FT4 of 0.44 ng/dL (0.61-1.82), free triiodothyronin (FT3) of 1.5 pg/mL (2.2-4.2), prolactin of 29.48 ng/mL (3.34-26.72) (23.5 ng/ml by dilution), estradiol 20 pg/mL, Luteinizing Hormone (LH) 2.52 mIU/mL, Follicle Stimulating Hormone (FSH) 5.03 mIU/mL, morning cortisol 8 μg/dL, adrenocorticotrophic hormone (ACTH) 10 pg/mL (6-58), insulin-like growth factor-1 (IGF-1) 109 ng/mL (108-368), Thyroglobulin antibody 4.9 IU/mL (0-4), thyroglobulin 159 ng/mL (1.3-31.8), Microsomal Antibody 1096.2 IU/mL (0-9), and Alpha subunit- 3.4 ng/mL (reference range <1.02). A repeat MRI of the pituitary at the time of admission showed an enlarged pituitary, 13x10.1 mm, which appeared slightly improved from the MRI 3 weeks prior to presentation, with decreased involvement of the optic chiasm (Figures and ).
She was initially evaluated for surgery, for presumed diagnoses of pituitary macroadenoma; however prompt recognition of severe primary hypothyroidism causing pituitary hyperplasia prevented any unnecessary surgical intervention. She was started on levothyroxine and liothyronine replacement therapy. Six weeks after her initial presentation, laboratory evaluation showed improvement in thyroid function test with a () TSH of 11.23 mIU/mL, FT4- 1.25 ng/dL, Total T3- 95 ng/dL (48-178), free T3 5.7 pg/mL, and Alpha subunit 0.53 ng/mL. A repeat MRI of the pituitary also showed decrease in the height of the pituitary gland to 10.5 mm and with less involvement of the optic chiasm (Figures and ). Within the pituitary gland, there was a 3 mm hypoenhancing focus in the right adenohypophysis suggestive of a microadenoma. She is currently doing well with significant improvement in her symptoms. Repeat laboratory evaluation 3 months after her initial presentation showed complete normalization of thyroid function tests () with TSH 0.77 mIU/mL, Total T3 141 ng/dL, and FT4 1.63 ng/dL.
MRI of the pituitary 3 months after presentation shows that the pituitary measures 9.5 mm with a persistent 5 mm hypoenhancing focus in the right adenohypophysis (Figures and ). The rest of the anterior pituitary hormone levels continue to be within reference range. The small microadenoma is thought to be an incidentaloma and is being monitored. |
pmc-6614968-1 | A 53-year-old woman with past medical history of type 2 diabetes mellitus, hyperlipidemia, and depression presented to the emergency department with progressive bilateral weakness over 6 months. She reported weakness that began in her lower extremities and then progressed to her upper extremities, affecting primarily her proximal muscle strength. She had no associated numbness or tingling, fevers, chills, headache, rashes or skin changes, joint pain, or recent injury. Her medications included metformin, glyburide, aspirin, and sertraline. She was also on a high-intensity statin for the past year without any recent dosage changes.
Physical examination was significant for reduced muscle strength involving the neck, bilateral deltoids, and quadriceps. She appeared unsteady on her feet with a slightly widened gait. Deep tendon reflexes, sensation, and coordination were intact throughout all extremities. Initial labs were significant for a leukocytosis of 12,500 K/cumm, aspartate aminotransferase (AST) of 773 U/L, alanine transferase (ALT) of 763 U/L, erythrocyte sedimentation rate (ESR) of 35 mm/hr, C-reactive protein of 24 mg/L, and markedly elevated creatinine kinase (CK) of 28,000 U/L. ANA was 1 : 80 titer with a nucleolar pattern by HEp-2 indirect immunofluorescence (IF), and the anti-dsDNA antibody was negative by the Crithidia luciliae IF test (CLIFT). Magnetic resonance imaging (MRI) of the patient's pelvis revealed extensive edema throughout the proximal pelvic musculature with a symmetric distribution consistent with myositis (). Furthermore, an electromyogram and nerve conduction study demonstrated diffuse and active irritable myopathy, and a muscle biopsy of the vastus lateralis revealed necrotizing myopathy with minimal inflammatory infiltrate and MHC1 immunostaining consistent with NAM ().
Given the aforementioned findings, the patient was started on high-dose intravenous solumedrol, mycophenolate mofetil, and four consecutive days of IVIG for treatment of a necrotizing myositis (NM), which resulted in improvement in the creatinine kinase down to 8,000 after a week into therapy. An extended myositis panel and 3-hydroxy-3-methylglutaryl coenzyme-A (also known as HMG-CoA reductase or HMGCR) antibody test later resulted with positive PM/Scl-100 antibody (by qualitative immunoblot, ARUP Laboratories) and significantly elevated HMGCR antibody level (>200 units, by semiquantitative enzyme-linked immunosorbent assay, ARUP Laboratories), consistent with statin-associated NAM.
About one week into the patient's treatment course, the patient developed acute bilateral vision loss and right side hemineglect. A magnetic resonance angiogram (MRA) of the head revealed development of diffuse arterial narrowing and irregularity consistent with cerebral vasospasm. Furthermore, she had areas of signal abnormality in the bilateral frontal, parietal, and occipital lobes with diffusion restriction. Consultation with neuroradiology suggested that the patient's neurological findings were consistent with PRES (), suspected to be related to a delayed reaction to IVIG therapy. The patient was subsequently started on nimodipine and magnesium. Subsequent serial MRAs and neurological exams revealed radiographic and clinical improvement, respectively. However, her vision only improved minimally at that time. She was discharged with daily mycophenolate and sent to a rehabilitation facility to continue muscle strengthening and ambulation gait training. At 6-month follow-up, she reported marked improvement in physical strength and her vision was significantly improved; her CK returned to normal levels. |
pmc-6614985-1 | A 62-year-old man was admitted to the emergency department with intense chest pain and acute urticaria occurring a few minutes after a wasp sting on the right shoulder. No cardiovascular risk factors or history of allergy were recorded. Blood pressure was 90/60, heart rate was 100 b/m, and no signs of hemodynamic instability were found at presentation. The ECG showed ST-T elevation in D2-D3-aVF. The echocardiogram on admission showed normal cavity geometries with mild depression of the left ventricular function at 50% ejection fraction (EF) and akinesia of the lower wall. Myoglobin was 362 ng/mL (normal range < 110), Ck-MB 5.13 ng/mL (normal range < 5.0), and troponin 0.32 ng/mL (normal range < 0.04). Eosinophilia (765 μl) and basophilia (288 μl) were present. ASA 250 mg and sodium heparin 5000 IU/e.v., ticagrelor 180 mg/orally, and methylprednisolone 40 mg/e.v. were given for the emergency treatment of coronary syndrome and urticaria. Coronary angiography showed a significant stenosis of the right proximal coronary artery (), due to coronary spasm, as the administration of isosorbide dinitrate 2 mg induced rapid resolution of the stenosis (), remission of angina, and normalization of the altered ECG. The patient was discharged on the third day and referred to the allergy unit. Skin tests and specific IgE showed sensitization to wasp venom. Tryptase was 15 mcg/l. Specific immunotherapy for wasp venom was prescribed, and it is currently administered. |
pmc-6614985-2 | A 61-year-old man developed urticaria shortly followed by loss of consciousness a few minutes after intravenous infusion of ceftriaxone while undergoing surgery (long saphenous vein stripping) under local anesthesia. He was transferred to the emergency department with cardiogenic shock and ECG signs of myocardial anterior ischemia (ST-T elevation in the anterior leads). Blood cardiac biomarkers were normal, but they suddenly increase in laboratory tests 4 hours later (troponin = 16.2 ng/mL, myoglobin = 1103 ng/mL, and Ck-MB = 97 ng/mL). Coronary angiography showed the presence of thrombosis of the middle segment of the anterior interventricular coronary artery causing subocclusion and ischemia (). The patient presented cardiovascular risk factors as obesity and hypertension, but no history of cardiovascular disease.
Treatment consisted in emergency primary PTCA and drug-eluting stents of the anterior interventricular artery followed by PTCA and stenting in election on the coronary arteries affected by critical stenosis (Cx and Cdx), with resolution of the subocclusion (). ECG signs of ischemia normalized on the third day, with left anterior hemiblock and no Q wave. An echocardiogram showed mild hypertrophy of the left ventricle and hypokinesia of the interventricular septum and the apex. Ejection fraction was 50%. The patient was discharged (with prescription of ASA 100 mg/day, clopidogrel 75 mg/die, and atorvastatin 80 mg/die) and referred to the Allergy Unit, where a diagnosis of ceftriaxone allergy was made (intradermal test positive at 1/100 dilution in physiological saline, specific IgE to cefaclor (Thermo Fisher antigen c7) = 2.1 kUA/l). |
pmc-6614985-3 | A 60-year-old man was admitted to the Emergency Room in unconscious state, with signs of hemodynamic impairment. An ECG showed ST-T depression in the inferior and anterolateral leads. Blood levels of cardiac biomarkers were elevated. The patient presented cardiovascular risk factors (dyslipidemia and smoking) and suffered a stroke in 2017. He was immediately treated with steroids and epinephrine. Since his blood pressure fell to a low level of 65/45 mmHg, he was put on norepinephrine until a systolic blood pressure of 95 mmHg was reached. An ECG showed ST-T elevation in the anterior leads. Troponin was 17.6 ng/mL, myoglobin 1341 ng/mL, Ck-MB 92 ng/mL, and WBC count 22,650 cells/uL; eosinophils and basophils were normal. Coronary arteriography showed a subocclusion of the anterior descending branch of the left coronary artery ().
Treatment consisted of emergency primary PTCA and drug-eluting stents of the proximal and middle segment of the anterior interventricular artery, with resolution of the subocclusion (). On the third day, an echocardiogram showed normal cavity geometries and wall thickness of the left ventricle, good global kinetic, and EF 55%. Blood levels of troponin and Ck-MB were reduced. The patient was discharged from the hospital with ASA 100 mg/day, ticagrelor 90 mg 2 bid, bisoprolol 1.25 mg/day, atorvastatin 80 mg/die, and ramipril 2.5 mg/day and referred to the general practitioner. A careful medical history revealed that immediately before losing consciousness the patient was stung by a wasp; following the diagnosis of hymenoptera allergy (positive skin prick test and specific IgE to wasp), the patient started a desensitizing therapy. |
pmc-6615080-1 | An 80-year-old African-American male presented to the University of Michigan Hospital and Health Systems Comprehensive Wound Center for ongoing care of a painful right foot fifth digit wound. He first noticed the lesion after stubbing the digit 2 months prior. He presented to his primary care doctor 1 month after the injury and the lesion was diagnosed as a diabetic foot ulcer (DFU). The lesion improved minimally with local wound care. Due to stagnation of the suspected DFU the patient presented to the wound center for further care. Upon initial wound center presentation, a granulomatous mass was noted to the medial aspect of the right fifth digit (Fig. ). A biopsy of the lesion was subsequently scheduled. However, upon presenting to the biopsy procedure, the patient stated the granulomatous mass had sloughed off in his sock the week prior leaving only a small partial-thickness ulcer (Fig. ). The patient elected to defer the biopsy as his symptoms had improved. The patient continued regular monthly follow-up at the wound center with development of his wound into two painful papules.
The patient’s past medical history was significant for type 2 diabetes mellitus T2DM, hypertension, hyperlipidemia, asthma, and dementia. He denied a family history of skin lesions and cancer. He did not take any immunosuppressive medication. The patient was a lifelong non-smoker and denied alcohol and illicit drug use. He was married, heterosexual and monogamous. At the time of presentation his last recorded hemoglobin A1c was 6.1%. Clinical examination revealed palpable pedal pulses with triphasic flow to the bilateral dorsalis pedis artery and posterior tibialis artery. His right hallux toe pressure was 126 mmHg and his left hallux toe pressure was 184 mmHg. He had diminished protective sensation, 2 out of 4 sites bilaterally, as tested with 10-g 5.07 Semmes-Weinstein monofilament as per American Diabetes Association guidelines []. To the medial aspect of the patient’s right fifth digit were two firm, cyanotic appearing papules. The distal papule measured 0.5 cm in diameter and the proximal papule measured 0.7 cm in diameter (Fig. ). There were no clinical signs of infection noted to the right foot. As the lesion caused moderate discomfort and did not improve despite 2 months of local care at the wound center, a biopsy of the lesion was again recommended.
After obtaining written informed consent a #15 blade was used to perform a shave biopsy of both the right fifth digit proximal and distal papules. The two specimens were labeled appropriately and sent separately to the University of Michigan Hospital and Health Systems pathology laboratory for assessment. The pathology report identified the specimen obtained from the distal papule as the superficial aspect of a hemorrhagic vascular lesion. The specimen from the proximal papule was identified as Kaposi sarcoma, nodular stage, transected at the deep margin. Hematoxylin and eosin stain demonstrated dermal nodules with haphazard spindle cell proliferation of endothelial cells forming vascular spaces which is diagnostic of classic KS (Fig. ). The tumor cells showed diagnostic positive staining for HHV-8 (Fig. ).
After the resulting classic KS diagnosis, the patient was referred to the Surgical Oncology Clinic at the University of Michigan Hospital and Health Systems. He underwent a series of blood tests to assess for underlying immunosuppression including HIV testing and a complete blood count with platelet and differential. He was determined to be HIV seronegative without any other clinical findings of immunosuppression. His case was reviewed by the University of Michigan Sarcoma Medical Oncology Department as well as the Multidisciplinary Sarcoma Tumor Board. The consensus of the combined board was local therapy with radiation without surgical intervention. The patient underwent 30 Gy of radiation in 10 fractions directed to the right foot fifth digit. The patient tolerated radiotherapy well and upon finishing his course of therapy, the KS lesion to the right foot had completely resolved. Upon a 10 month follow-up from initiation of radiation, the patient was disease free. |
pmc-6615146-1 | A 27-year-old male was admitted to hospital emergency due to 4 h of chest pain in 13 January 2016. In fact, he had suffered from fatigue after activity for more than 10 days and felt chest tightness and chest pain for 4 days before admission. The patient, a taekwondo trainee, had a healthy body, and his family history was unremarkable. Emergency aortic computed tomographic (CT) scan showed a thickened aortic wall, bilateral pleural effusion and pericardial effusion (Figs. a and b). Cardiac colour ultrasound suggested aortic hematoma or dissection (Fig. ). On the basis of the condition and the results of auxiliary examination, the formation of aortic dissection should be considered. The next day, after excluding surgical contraindications, the patient was performed an emergency operation. Cardiac surgeons underwent ascending aortic replacement and aortic arch replacement. They developed postoperative comprehensive treatment measures, including anti-infection, adjustment of cardiac function, nutritional nerve and symptomatic supportive treatment, and the patient recovered well and was discharged after 15 days. The cause of aortic dissection was unclear, although the surgeons extracted arterial tissues and pericardial tissues and sent them for pathological examination. In fact, postoperative pathology of the aortic wall tissue showed aortitis, such as visible necrosis, granulation tissue hyperplasia and a large number of acute and chronic inflammatory cell infiltration (Figs. b, c and d). However, the surgeons and the pathologist at the time did not consider the cause of aortitis or aortic dissection due to GPA because of a lack of understanding of GPA-induced aortitis or aortic dissection. This event is one of the starting points of our study. We want to attract the attention of clinicians. GPA is also a common cause of aortitis and even aortic dissection.
On the first day of 2017, the patient was re-examined for aortic CT because of a 6-day fever and right chest pain. He showed a good prognosis in terms of aortic dissection after a review of aortic CT, but we found significantly increasing lesions in his lung, such as flake density increased shadow, less clear boundary, visible cavity and bronchial meteorology (Fig. c). The patient had no renal insufficiency and sinusitis but had eye damage with scleritis. The next day, the patient was readmitted to our hospital. At first, we considered pulmonary infection because of the combination of fever, haemogram, pulmonary shadow and cavitary lesions. Hence, we administered moxifloxacin. After 12 days, we reviewed chest CT again and found that the lung lesions became significantly heavier than before (Fig. d). Moreover, the patient still had intermittent fever, and the infection treatment was ineffective. At the same time, the patient developed conjunctivitis in the left eye and pain in the finger joints. Thus, we started to suspect pulmonary infection. We checked connective tissue disease-related indicators, such as ANCA, anti-nuclear antibody and immune indicators. The proteinase 3 (PR3)-ANCA (c-ANCA) level was 180 IU/mL, and the MPO-ANCA (p-ANCA) level was 10 IU/mL. Rheumatoid factor and anti-O experiments were positive, and anti-nuclear antibody spectrum was negative. We then performed a bronchoscopy, including brush biopsy, bronchoalveolar lavage and transbronchial lung biopsy. The pathological results suggested inflammatory cell infiltration, cellulose exudation and necrosis in clamped lung tissues (Fig. a). However, these pathological changes may be insufficient to diagnose GPA. We therefore carefully re-examined the pathological findings of the patient’s aorta and pericardium one year ago. Surgical biopsies obtained from the aorta and pericardium tissue showed that the epithelioid cells and multinucleated giant cells formed a granuloma (Fig. b), small vasculitis (Fig. c and Additional file : Figure S1 and Additional file : Figure S2) existed in the aorta and cellulose exudation and inflammatory granulation tissue hyperplasia were present in the pericardium (Fig. d).Combining with the two pathological results, clinical manifestations and laboratory tests, we invited a radiologist and a pathologist to perform a multidisciplinary discussion in the initial diagnostic assessment of the patient with suspected GPA. Finally, the diagnosis of GPA was established. Then, immunosuppressive therapy with i.v. steroids (methylprednisolone 40 mg twice daily) and cyclophosphamide 125 mg·day− 1 was initiated. The patient is currently followed up with the above treatment programs. We also adjusted the treatment program according to the patient’s disease progression. At present, the patient recovers well and is in stable condition. |
pmc-6615165-1 | A 78-year-old Japanese woman was referred to the Division of Oral and Maxillofacial Surgery at the Kagawa Prefectural Central Hospital in 2017 with the chief complaint of constant pain in the left upper molar region. She had undergone left maxillary first molar extraction 10 years ago, but details on root canal treatment were unavailable. Her discomfort did not disappear even after tooth extraction, and recently, the pain had been exacerbating. Panoramic radiographs revealed a radiopaque lesion in contact with the maxillary sinus at the apical portion of a missing left maxillary first molar. The size of the radiopaque lesion in the CT image was 2 mm diameter, and it was located in the maxillary bone partly in contact with the base of the maxillary sinus (Fig. ). It was perfectly consistent with the part associated with the patient’s pain complaint. We diagnosed the symptoms as being caused by the foreign body in the maxilla and decided to remove the object. A minimally invasive treatment procedure was desirable; however, the lesion was in contact with the maxillary sinus, and it was difficult to pinpoint its position because of the absence of an anatomical landmark, such as a tooth or a fossa. Therefore, we decided to apply a surgical navigation system to locate and remove the object.
A custom splint was fabricated with acrylic resin using a dental mold. To fix the reference frame and arrange the points for registration more stereoscopically, the splint was extended. In total, ten temporary stopping dental markers were incorporated for marker-based pair-point registration (Fig. ).
CTs of the region with the attached splint were obtained using the DICOM (Digital Imaging and Communication in Medicine) format and transferred to a Medtronic StealthStation S7 workstation, which used the Synergy Fusion Cranial 2.2.6 software (Medtronic Navigation Inc., Louisville, CO, United States). Registration was performed before the surgical procedure. After the reference frame was attached to the splint, point registration was performed using the point embedded in the splint. This procedure can be performed without a patient because preoperative registration is performed only with a splint that is fixed to a reference frame (Fig. ).
Following preoperative registration, the splint with the reference frame was placed in the patient’s mouth, and the accuracy of the navigation was confirmed. The mucosal periosteum was detached to expose the maxillary bone, and the position of the lesion in the maxilla was identified by navigation (Fig. ). The position with regard to the maxillary sinus was identified followed by the removal of the surrounding bone and excision of the lesion. Therefore, the surgery could be accurately performed without perforating the maxillary sinus. After the surgical procedure, the patient’s symptoms disappeared. |
pmc-6615206-1 | A 74 year old female had a left renal mass under observation for 4 years, during which time she was imaged repeatedly using ultrasound and CT scans. Previous medical history includes obesity, diverticulosis, paroxysmal atrial fibrillation, diabetes mellitus, hypertension, and chronic kidney disease. Relevant medications included aspirin 100 mg/day, which was not ceased. She ceased smoking 30 years ago. In December 2012, the lesion measured 39 mm in its largest dimension, and in July 2016 was measured at 65 mm.There has been no evidence of metastases, and the lesion has demonstrated a steady pattern of growth over the 4-year period. Fine needle aspiration performed 3 months prior to presentation histologically confirmed the mass to be consistent with RCC.
Following a multidisciplinary review, the patient was recommended for SBRT as she was not considered a surgical candidate. The tumour was not amenable to thermal ablation due to size. She signed Informed Consent for a Human Research Ethics Committee approved clinical trial []. Treatment was planned for 42Gy to be delivered in 3 fractions at 14Gy per fraction as part of a prospective phase 2 collaborative clinical trial []. Non-contrast 3D and 4D CT scans were performed with 2 mm slice thickness. A recent contrast enhanced diagnostic CT was fused to the 3D planning CT.
A gross tumour volume (GTV) was contoured on the co-registered 3D CT scan, measuring 65 mm in its largest dimension. An internal target volume (ITV) was created by using 4D CT to account for breathing motion (Fig. ). Motion observed was minimal, reaching 5 mm cranio-caudally, and 3 mm anterio-laterally. There was no posterior or medial motion observed. The planning target volume (PTV) was a 6 mm expansion of the ITV, optimised to remove regions overlapping with large bowel, with the ITV being used to define PTV extent in the region of overlap.
Varian Eclipse planning system was used for dose calculation and treatment was delivered using 10MV Flattening Filter Free (FFF) VMAT consisting of two coplanar, half rotation arcs, avoiding the right abdominal region.
A cone beam computed tomography scan (CBCT) was performed pre, mid, and post treatment, with corrections for intra-fractional motion being made prior to the delivery of each arc. Image matching was performed by two Radiation Therapists in consultation with the Radiation Oncologist. The GTV was easily defined on CBCT, as were proximal structures such as bowel and the renal artery and vein.
Within 3 h following the first fraction of SBRT, this patient presented to the emergency department suffering severe left flank pain, fever and vomiting. Contrast enhanced CT showed the mass to have markedly increased in size, measuring 87 × 81 × 70 mm, compared with 65 × 54 × 56 mm earlier the same day on CBCT which had been stable compared with her planning CT (Fig. ). Intratumoral haemorrhage was noted with extension into the intraperitoneal space. The patient was admitted for analgesia, anti-pyretics, and transfusion of 2 units of packed red blood cells. The patient recovered without need for any further intervention but given this adverse reaction, radiotherapy was discontinued after 14Gy as a single fraction. The patient remained in hospital for observation for a total of 8 days, and screening for coagulopathy was negative. Two years after the event the patient is stable, CT imaging showing a reduced mass measuring 55 mm in maximal diameter, similar to pre-treament imaging measurements on the day of radiotherapy, and suggesting on-going fibrosis and disease response. No metastatic lesions are evident, and dimercapto succinic acid (DSMA) split renal function scan shows 35% of function in the left kidney and an increasing estimated glomular filtration rate (eGFR) now to a level of 40. |
pmc-6615208-1 | We report on a 5-year-old boy with recurrent severe acute exacerbations of generalized pustular psoriasis with fever. Starting at the age of 7 months (Fig. ) he suffered from fever and psoriatic lesions. Diagnosis was “early onset psoriasis with probable infection”, although a causing infectious agent could not be recovered. Under initial treatment with antibiotics and with weekly methotrexate (MTX, 10 mg/sqm) and varying doses of prednisolone he responded completely over the course of several weeks. At the age of three years MTX could be stoppend. At the age of 4 years (Fig. ) he again presented with fever and generalized psoriasis, being diagnosed as “generalized psoriasis”. With high doses of prednisolone (2 mg/kg), MTX (10 mg/sqm) and topical treatment he showed a partial response with recurrent lesions on the trunk. While prednisolone was tapered during the following weeks MTX was continued. The latest admission at the age of 5 years was necessary for severe pustular and psoriatic skin lesions covering 60% of his skin (Fig. ). He had fever and CRP was elevated up to 11,8 mg/dl. Abdominal ultrasound revealed hepatosplenomegaly, thickened bileducts and ascites. Echocardiography revealed pericardial and pleural effusion. Lipase and y-GT were elevated to 2480 U/l and 213 U/l, respectively; ALT and AST were in normal ranges. Diagnosis then was “generalized pustular psoriasis”. We started methylprednisolone pulses (20 mg/kg) for 3 days and continued with prednisolone 2 mg/kg/d -additive to methotrexate 10 mg/sqm with minor efficacy related to the skin. After introduction of adalimumab 20 mg (body weight 16 kg) every week the skin cleared completely within 2 weeks, with normal temperatures and CRP values as well as yGT and lipase. Echocardiography and ultrasound of the abdomen normalized. After 12 months the boy is in complete remission with adalimumab in weekly intervals and MTX 10 mg/sqm (Fig. ).
To establish a definitive diagnosis, exom sequencing was performed on the patient and his parents. Initially, we assumed consanguinity and filtered accordingly for a homozygous STXBP2 variant (c.568C > T; p.Arg190Cys). Pathogenic autosomal recessive STXBP2 variants can lead to familial hemophagocytic lymphohistiocytosis type 5 (FHL5) and the systemic inflammatory response observed in the patient could have indeed been an atypical FHL5 manifestation []. However, functional testing of NK cell degranulation was normal and the variant was therefore considered benign []. Next, the exome data were re-analysed assuming non-consanguinity and two variants in the IL36RN gene were identified. Sanger sequencing of both parents and the patient confirmed compound heterozygous IL36RN variants (c.227C > T; p.Pro76Leu and c.338C > T; pSer113Leu). In light of the clinical phenotype, the genetic data is consistent is in line with establishing the diagnosis DITRA. |
pmc-6615225-1 | A 2-year old girl was referred to the Jos University Teaching Hospital in north central Nigeria, with complains of progressive cough and difficulty in breathing in the preceding six months. She was treated at several health facilities for pneumonia and asthma without resolution of symptoms. Patient had no fever or features suggestive of tuberculosis. Pregnancy, delivery, neonatal and infant periods were uneventful and patient had received all immunization appropriate for her age. Examination at presentation showed a child in severe respiratory difficulty necessitating oxygen administration, with Spo2 89–90% at room air and 96% on oxygen by nasal prongs. There was bulging of the right side of her anterior chest wall and markedly reduced breath sounds on the right hemithorax. No features suggestive of congenital heart disease. Chest X-ray showed homogenous opacity continuous with the cardiac silhouette, involving almost the entire right thoracic cavity with a shift of the mediastinum to the left (Fig. ). Echocardiography confirmed a very large well defined mediastinal cyst compressing the right atrium, left atrium and right ventricle (Fig. ). Contrast-enhanced computed tomography scan of the chest showed a well defined large cyst of the anterior mediastinum compressing the right main bronchus (Fig. ). Blood investigations were all normal. A diagnosis of anterior mediastinal cyst was made and the patient had right posterolateral thoracotomy through the fifth intercostals space. Intraoperatively a large tense cyst measuring 20 × 16 × 3.5 cm was noted adjacent to the pericardium and attached loosely to the thymus compressing but not attached to the bronchus. The cyst was unilocular with a thick wall and contained serous fluid (Figs. & ); the cyst was excised en bloc. There was moderate pericardial fluid which was drained by a pericardiostomy. Histopathological sections showed ectopic pancreatic tissues in the wall of the cyst (Figs. , and ). The post operative course was uneventful; the patient has been asymptomatic after a followed-up period of twenty four months. |
pmc-6615235-1 | The patient was a previously healthy 10-year-old boy presenting with progressive truncal instability, gait difficulty, and frequent falls from 2 months ago. He was born to healthy consanguineous Balooch parents, an ethnic group living in the southeast of Iran. His birth history was uneventful but a mild motor developmental delay was reported as he started to walk independently at the age of 2 years. Family history was negative for neurological or hematological diseases. The cognitive function was intact and his academic performance was average as he went to school until one month ago. On neurological examination, he had dysarthria, slowing of vertical saccades, ataxia, generalized rigidity (more dominant in lower limbs) and bradykinesia. Moreover, he had sustained four-limb dystonia, predominantly in the lower limbs, that was exacerbated by voluntary movement and fluctuated in severity over days. These twisting movements together with increased stiffness led to an abnormal posture. Lower limb dystonia increased during walking resulting in walking difficulty and a specific “cock-walk” gait. On systemic examination, his face and palms were plethoric but no other remarkable findings were noted.
Laboratory investigations showed polycythemia (red cell count: 10.73 × 103 / L, normal range [n.r.]: 4.1–5.3 × 103; hemoglobin: 20.1 g/dl, n.r.: 12–16; hematocrit: 67.1%, n.r.: 37–47), low serum ferritin (7 ng/ml, n.r.: 12–300), and a high total iron binding capacity (TIBC: 630 mcg/dl, n.r.: 250–450). Serum calcium, liver transaminases, ammonia, lactate, and pyruvate levels were within normal limits and amino acid chromatography was unremarkable. A diagnosis of Wilson disease was suspected according to the extrapyramidal symptoms; however, serum copper and ceruloplasmin and 24-h urine copper levels were normal, and abdominal ultrasound was unrevealing. Ophthalmologic examination was unremarkable for the Kayser- Fleischer ring. Echocardiography, electromyography, and nerve conduction velocities of the limbs were normal. A brain MRI showed symmetric hyperintensities in the caudate and lentiform nucleuses, tectum of the pons, and dentate nucleuses of the cerebellum on T1 images and a normal appearance on T2 images without restriction on diffusion weighted images (Fig. a,b). Neuroimaging findings were suggestive of metal deposition in the brain. As serum copper and calcium levels were normal, the serum manganese level was checked in two different laboratories by gas-chromatography and mass spectrometry (GC/MS) Agilent technology (Calif, USA). The serum level of manganese was above 3000 nmol/L, which was far beyond the reference value (less than 320). There was no history of environmental overexposure; therefore, an inherited hypermanganesemia was suggested. Key genes implicated in Mn homeostasis in humans are SL39A14, SL30A10, and SLC39A8 with 16, 6, and 16 exons, respectively []. Sequencing all of these exons by Sanger sequencing is difficult, expensive, and time-consuming. Therefore, whole exome sequencing was done, which showed a homozygous missense variant in SLC30A10 (c.C1006T, p.His336Tyr). According to the Sherloc comprehensive variant classification, this variant may be classified as pathogenic because of at least 6 pathogenic points (PM2:1 point; PP3: 0.5; PS3:2.5; PP4:2). Sanger sequencing confirmed a homozygous and heterozygous state in the proband and parents, respectively. The pathogenic variant was not revealed in his younger asymptomatic brother.
Symptomatic therapy with Levodopa at an optimal dosage (10 mg/kg/day in three divided doses) was not effective. A combination of oral D-penicillamine 1000 mg daily (250 mg every 6 h), iron supplementation and levodopa (300 mg daily) was started and phlebotomy was done, but no clinical or laboratory responses were noted after 2 months. Then, disodium calcium edetate was administered as a chelation therapy at 1 g/m2 for 5 days infused every 4 weeks and oral iron compounds and levodopa were continued. After two cycles of treatment, the Mn level and Hb concentration decreased to 170 nmol/L and 14 g/dl respectively, and the serum level of ferritin increased, but minimal improvement was seen in motor function. At the 6th month of follow up, complete resolution of dysarthria and partial amelioration of bradykinesia, rigidity, and dystonia were seen resulting in a better motor function and gait. Repeated brain MRI revealed marked resolution of previous findings (Fig. c). The Mn and hemoglobin levels were in the normal range and the motor function improved steadily throughout the follow-up period until the time of preparing this report. No adverse effects of disodium calcium edetate such as hypocalcemia, thrombocytopenia, leukopenia and renal or hepatic dysfunction were seen. The clinical course of the patient is shown in Fig. . |
pmc-6615256-1 | A 67-year-old man with Lynch syndrome (MSH6 mutation) and polycythemia vera presented with histologically-proven MCC (unknown Merkel cell polyomavirus (MCPyV) status) metastatic to the liver. He received first-line therapy with pembrolizumab for 2 months with progressive disease (PD) as his best response. (Fig. ) He was then treated with four cycles of ipilimumab (anti-CTLA-4, 3 mg/kg) + nivolumab (anti-PD-1, 1 mg/kg) every 3 weeks × 4 and experienced a partial response per immune-related response criteria, which lasted 30 weeks before his disease progressed. Ipilimumab + nivolumab was administered again but resulted in PD at 14 weeks. The patient then received avelumab (anti-PD-L1) 10 mg/kg every 2 weeks plus radiotherapy (3D conformal radiation therapy, 2500 centigray) to a right iliac mass, which resulted in a partial response (PR) per RECIST v1.1. Marked regression was also noted in the irradiated tumor (Fig. ) and the patient’s Eastern Cooperative Oncology Group (ECOG) performance status improved from 2 to 0. PR lasted 12 months. |
pmc-6615256-2 | A 79-year-old man presented with cervical lymphadenopathy and liver metastases from a primary MCC on the right cheek (unknown MCPyV status). He was treated with pembrolizumab and experienced PD at 9 weeks. (Fig. ) He then received ipilimumab (3 mg/kg) + nivolumab (1 mg/kg) every 3 weeks × 4 followed by nivolumab monotherapy (3 mg/kg) every 2 weeks, along with intensity-modulated radiation therapy (IMRT, 4000 cGy) to cervical tumors. He experienced a PR per RECIST v1.1 (Fig. ) at 17 weeks. In the setting of an ongoing PR at 8 months, the patient developed profound fatigue and altered mental status of unclear etiology, possibly a result of an immune-mediated adverse reaction (e.g., encephalitis) associated with immune checkpoint blocking therapy. The patient declined further workup and died 2 months later from complications related to encephalopathy. |
pmc-6615256-3 | A 59-year-old man presented with symptomatic, widely metastatic MCPyV-positive MCC that progressed through > 5 therapeutic regimens, including surgery, radiotherapy (RT), cytotoxic chemotherapy, intra-tumoral (IT) interferon-beta, IT interleukin (IL)-12, somatostatin analogues, and adoptive T cell therapy (ACT) with MCPyV-specific T cells plus pembrolizumab. The patient had received 3 doses of pembrolizumab (1 pre-ACT and 2 post-ACT) and, despite persistence of infused T cells in the peripheral blood, the patient’s best response was PD. After considering the possibility of best supportive care (i.e., hospice), the patient opted to receive one dose of ipilimumab (50 mg; 0.5 mg/kg). Two days after ipilimumab infusion, the patient reported flu-like symptoms reminiscent of cytokine release. Over the next few weeks, he experienced a dramatic clinical improvement; a restaging evaluation at 6 weeks demonstrated a PR with > 90% tumor regression. Given this remarkable response, the patient started receiving pembrolizumab plus low-dose (50 mg) ipilimumab infusions. He maintained a PR over the next 18 months, after which he developed rapid disease progression and died. Tumor biopsy at the time of progression revealed downregulation of MHC-I expression on MCC tumor cells as a possible mechanism of acquired resistance to immune checkpoint inhibitor therapy []. Given this patient’s limited exposure to pembrolizumab (3 doses) and persistence of MCPyV-specific T cells in the peripheral blood prior to administration of low-dose ipilimumab, it is difficult to tease apart the individual contributions of each therapy. However, the close temporal relationship between initiation of ipilimumab and the patient’s dramatic clinical improvement supports a therapeutic synergy between the 3 agents. |
pmc-6615256-4 | A 71-year-old man presented with asymptomatic, MCPyV-positive MCC that progressed through > 5 therapeutic regimens, including surgery, RT, cytotoxic chemotherapy, IT IL-12, an IT toll-like receptor (TLR)-4 agonist, somatostatin analogues, and nivolumab. The patient had been receiving nivolumab for > 2 years with a complete response (CR), but 26 months after initiation of nivolumab he developed PD with asymptomatic portacaval and left iliac lymphadenopathy. Ipilimumab (1 mg/kg every 6 weeks) was added to nivolumab (3 mg/kg every 2 weeks), mirroring the regimen used in an ongoing clinical trial ( Identifier: NCT02488759). The patient again experienced a CR that lasted 10 months after starting ipilimumab. |
pmc-6615281-1 | A 68-year-old man was admitted to hospital following cardiac arrest during indoor track cycling. Bystanders described the events leading up to the cardiac arrest as the cyclist gradually losing speed, eventually falling sideways off the bike. This suggested to the attending prehospital anaesthesiologist that the cyclist got ill before he actually fell of the bike. No obvious signs of trauma were noted and the helmet remained intact. Bystanders quickly acknowledged that the patient had cardiac arrest and initiated resuscitation efforts. An automatic electronic defibrillator was attached just as the prehospital anaesthesiologist and the ambulance arrived. The initial rhythm analysis revealed pulseless electric activity. Following three to 4 minutes of treatment for cardiac arrest, return of spontaneous circulation was achieved. However, spontaneous respiration did not return.
The patient was intubated at the scene and escorted to the regional university hospital as exercise-related cardiac arrest was suspected. At the hospital, a fellow bicyclist eventually revealed that the patient in fact was hit by another bicycle rider immediately before the crash. Therefore, the initial hypothesis that the cyclist became ill before the fall was discarded and trauma was suspected. The patient had a computerised tomography (CT) scanning performed, which revealed an isolated fracture of dens axis type 2 and contusion of the medulla oblongata at the affected level.
Cardiac genesis was excluded based on results from echocardiography, electrocardiography, and blood samples including Troponin I.
The following day the patient showed signs of spinal shock and autonomic dysfunction, including bradycardia and asystole, prompting placement of a pacemaker. Repeated electroencephalograms revealed refractory myoclonic status epilepticus. As the patient did not regain consciousness, treatment was withheld 6 days after the accident, and the patient deceased shortly afterwards.
The second case was a 73-year-old man who was admitted to a cardiology department after being resuscitated from cardiac arrest during a road bike race. Bystanders described the man wobbling on the bike, eventually falling in a ditch. Cardiac arrest was quickly acknowledged and resuscitative efforts initiated. Approximately 5 minutes of CPR was given.
At the arrival of the pre-hospital emergency caretakers, the patient had regained spontaneous circulation and respiration. No medicine or shock had been given.
Pre-hospital electrocardiography revealed no signs of cardiac ischemia. The patient, now awake, had no complaints, be it chest, back or neck pain. The patient was referred to the cardiology department as the primary diagnosis assigned to the patient was exercise-related cardiac arrest.
Upon arrival at the department of cardiology, echocardiography revealed a preserved ejection fraction and no regional hypokinesia of the heart.
After cardiac examinations, the patient now began to complain of neck pain. A CT scanning was performed revealing a dislocated fracture of dens axis.
The patient was immediately inline-stabilised and transferred to the trauma unit at the regional university hospital. He was admitted at the neurosurgical department, presenting no signs of autonomic dysfunction. Four days later he underwent a successful operation to stabilize the cervical column. The patient eventually achieved full recovery.
During hospital admission the patient was consulted by a cardiologist ruling out primary cardiac event. The patient stated that there were no prodromal events prior to the accident. He simply had steered too close to the edge of the roadside ditch and subsequently crashed.
Although the cause of cardiac arrest could not be established with complete certainty, no other plausible cause than acute CCI could be found. |
pmc-6615299-1 | A 43-year-old male was admitted to hospital because of CRF and persistently increased serum creatinine for 7 years, ranging from 451.0–930.8 μmol/L during his hospitalization. He had a history of hypertension for 7 years and took nifedipine controlled-release tablets, and his blood pressure was 146/86 mmHg on admission. He had no diabetes, heart disease, hepatitis B virus infection or tuberculosis, and never underwent hemodialysis. For CRF treatment, he also had calcium dobesilate to protect blood vessels and improve circulation, polysaccharide-Iron(III) complex to fight anemia, sodium bicarbonate to correct acidosis, calcium acetate tablets and vitamin D3 to keep balance of calcium and phosphate metabolism, as well as Hushen Keli, a traditional Chinese patent medicine to improve renal function.
As shown in Table , this patient had normal liver function, severely impaired renal function (i.e., increased serum BUN, CREA, Cystatin C, and decreased eGFR), hyperglycemia (GLU, 8.41 mmol/L), serum electrolyte disorders (i.e., decreased Cl− and Ca2+, and increased Mg2+, phosphate). Interestingly, the case showed normal serum TC, TG, LDL-C, Lp(a), and decreased HDL-C, PLIP and undetectable FFAs. Additionally, urine glucose and protein were positive, and the 24 h-TP was 1.06 g/24 h (reference interval: 0–0.15 g/24 h). Further renal emission computed tomography (ECT) exam showed: (1) glomerular filtration rate (GFR): bilateral renal GFR was 16.0 mL/min (after correction, 16.4 mL/min/1.73m2), GFR for left and right single-kidney was 9.8 mL/min and 6.2 mL/min, respectively; (2) bilateral renal atrophy; (3) significantly reduction in bilateral renal blood perfusion; (4) severely impaired bilateral renal glomerular filtration function; (5) delayed bilateral renal excretion. The color Doppler ultrasound indicated that no obvious abnormality was observed in radial arteries of both upper limbs, cephalic veins, bilateral carotid or vertebral arteries. Based on the above mentioned results, the patient was diagnosed as CRF (CKD-5) and grade-3 hypertension (extremely high risk) with proteinuria, hyperglycemia and lipid disorders. |
pmc-6615315-1 | A 33-year-old female sought evaluation in our Department of General Surgery with a 2-year history of sporadic abdominal pain that had become aggravated during the past week. The character of pain became sharp and frequent. The pain was localized to the left lower abdomen. There was no nausea and vomiting. There was no history of abdominal trauma. The patient had a congenital anomaly of the kidneys and uterus; there was no menstruation. The patient had undergone an appendectomy in the past. On physical examination, the patient was afebrile. The abdominal examination revealed pain and a mass in the left lower quadrant area upon palpation. The mass was approximately 4 × 5 cm in diameters and was not circumscribed. The patient had no rebound tenderness and muscle rigidity. Laboratory testing revealed the following: white blood cell count, 7.13 × 109/L; neutrophilic granulocytes, 76.8%; hemoglobin, 120 g/L; and platelet count, 322 × 109/L. Computed tomography (CT) revealed an intestinal stromal tumor () and pelvic kidneys (). Digestive tract radiography showed possible extraintestinal involvement (). An intestinal stromal tumor was diagnosed and an abdominal laparotomy was performed; however, the intestinal tract was normal and a mass was noted in the sigmoid flexure. The tumor exhibited exophytic growth without infiltration and was 6.0 × 5.0 × 3.0 cm in size. The tumor and colon (proximal and distal length, 10 cm; ~25 cm) were excised. A rapid frozen section pathologic examination revealed a solitary fibrous tumor (SFT). A colon anastomosis was performed and the patient had fully recovered 7-days post-operatively. The final diagnosis was an ectopic ovary with corpora lutea bleeding (). The patient recovered well after surgery and there were no post-operative complications. The patient was doing well at the 11-month follow-up visit. Written informed consent was obtained from the patient and The Third People's Hospital of Dalian had approved the study (NO. 2018-LW-001). |
pmc-6615575-1 | A 75-year-old male with a history of tobacco abuse and depression was admitted to a community hospital due to three weeks of fatigue and two days of coughing up blood-tinged sputum. The physical examination was significant for decreased breath sounds on the right lung base and normal oral cavity with no cervical lymphadenopathy. The initial laboratory evaluation was normal and did not reveal leukocytosis. Blood cultures were negative. Human immunodeficiency virus (HIV) test was non-reactive. Chest radiograph revealed a large, lower, right-sided loculated effusion (Figure ). He underwent ultrasound (US)-guided chest tube placement, which yielded 200 ml of exudative fluid with 34,300/mm3 nucleated white blood cells (1372/mm3 granulocytes). Pleural fluid was sent for laboratory analysis. He was started on intravenous (IV) ampicillin/sulbactam. Pleural fluid culture yielded a rare species, S. gordonii. During his stay at the hospital, he was noticed to have mild dysphagia with regular diet. Aspiration was thought to be the reason for his infection. Repeat chest X-ray showed a worsening of empyema. tPA was administered in the chest tube, which yielded 550 cc of the exudative fluid. Follow-up CT chest revealed loculated effusions. Due to failed chest tube drainage with tPA and no improvement in the loculated effusions with antibiotics, he was transferred to a more advanced center for video-assisted thoracoscopic (VATS) decortication. |
pmc-6615577-1 | An 84-year-old female with no prior history of surgery or trauma presented to the hospital with nausea, vomiting, and abdominal pain for three days. At the time of the presentation, the patient was hemodynamically stable. X-ray of the chest showed the elevation of the right hemidiaphragm with right basilar atelectasis suggestive of diaphragmatic hernia (Figure ).
The CT scan confirmed the diagnosis of diaphragmatic hernia containing loops of small bowel and distal stomach classified as a large right Morgagni hernia (Figures -).
The patient was seen by a gastroenterologist and surgeon. Based on her age and other comorbidities, including her history of recent pulmonary embolism, the patient was considered high risk for surgical intervention. The decision was made to proceed with medical management, including intravenous fluid and nasogastric tube drainage, which resulted in the resolution of the symptoms over a period of 10 days and the patient was discharged home on pantoprazole and sucralfate with a regular diet.
The patient presented one month later to the emergency department with similar symptoms. Repeat radiologic studies showed a stable, large, right-sided Morgagni hernia. Shortly after the admission, and due to recurrent symptoms leading to poor quality of life, the decision was made to proceed with surgical intervention and the Morgagni hernia was repaired and mesh placed using laparoscopic approach to prevent recurrence.
The patient tolerated the procedure well. A postoperative chest X-ray showed only a small, right-sided pleural effusion without evidence of the previous hernia (Figure ).
She was discharged three days after the surgery and was completely asymptomatic three months after the surgery, tolerating a regular diet. |
pmc-6615581-1 | An otherwise healthy 42-year-old female patient presented to our institution with worsening nausea, vomiting, and abdominal pain of four days’ duration. Her surgical history was significant for an uneventful cesarean section two week prior to presentation. Notably, she was prescribed over-the-counter ibuprofen for postoperative analgesia on discharge and had been taking it consistently. She denied any foul vaginal discharge or bleeding other than the expected lochia.
Upon arrival to the emergency department, her vital signs were significant for tachycardia (heart rate 130 b/m), tachypnea (respiratory rate 31 b/m), and hypotension (blood pressure 77/52 mmHg). Physical examination was consistent with a diffusely tender abdomen, mild rebound tenderness, and trace blood in the vaginal vault. No cervical motion tenderness or purulent material was found on pelvic examination. Laboratory investigations revealed serum lactate of 4.7 mmol/L (normal range: 0.4 - 2.0 mmol/L), white blood count 10.97 k/ul (normal range: 3.70 - 11.00 k/uL), creatinine 3.28 (normal range: 0.70 - 1.40 mg/dL), and bilirubin 2.5 (normal range: 0.0 - 1.5 mg/dL). She had an emergent abdomen and pelvis computed tomography (CT) without contrast which was remarkable for an enlarged postpartum uterus with no localized collection of fluid or other significant abnormalities (Figures -).
The patient was resuscitated with 4.5 liters of normal saline; nonetheless, she remained hypotensive, eventually requiring initiation of norepinephrine and transfer to the medical intensive care unit (ICU). She was empirically started on vancomycin, zosyn, and clindamycin for septic shock management. However, the patient remained hypotensive necessitating addition of three more vasopressors, namely norepinephrine, phenylephrine, and epinephrine as well as a stress-dose steroid in efforts to maintain a mean arterial pressure around 60 mmHg. Subsequently, emergent intubation for airways protection was indicated, and just prior to intubation, the patient developed a pulseless electrical activity (PEA) arrest. Cardiopulmonary resuscitation was started with the return of spontaneous circulation achieved after seven cycles. Bedside echocardiogram was done showing an ejection fraction of 30% and severely hypokinetic left ventricle. Surgical and obstetric teams evaluated the patient, and the decision was made to proceed with exploratory laparotomy. The uterus was found slightly enlarged, mottled, and friable requiring hysterectomy and bilateral salpingectomy. Unfortunately, the patient went into another PEA arrest and expired despite all resuscitative measures. Blood culture and surgical pathology results later returned positive for GAS and suppurative endometritis with gram-positive cocci producing chains suggestive of GAS respectively. Autopsy disclosed findings consistent with disseminated intravascular coagulation, diffuse capillary leak, and anasarca supporting the diagnosis of TSS. |
pmc-6615582-1 | A 40-year-old Hispanic woman was admitted to University Medical Center New Orleans, Louisiana in August 2017 for evaluation of progressively worsening abdominal pain of eight months duration with associated intermittent nausea and vomiting. The patient also reported losing approximately 30 kilograms in weight. She denied any associated fever, night sweats, change in bowel habits, rash, enlarged lumps or palpable masses. She was previously healthy and denied any personal or family history of malignancy. She never smoked and used alcohol sparingly. She had no known allergies.
On physical exam, the patient’s body temperature was 98.6°F, blood pressure was 100/60 mmHg, and heart rate was 120/min. Cardiovascular and pulmonary exams were unremarkable. The abdomen was soft and mildly tender. A palpable mass was appreciated in the right periumbilical region. No cervical, axillary or inguinal lymphadenopathy was appreciated. Laboratory analysis showed severe metabolic derangements as follows: sodium of 121 mEq/L (reference range, 135-145 mEq/L), potassium of 2.2 mEq/L (reference range, 3.5-5.5 mEq/L), blood urea nitrogen of 61 mg/dL (reference range, 7-20 mg/dL), and serum creatinine of 3.03 mg/dL (reference range, 0.6-1.2 mg/dL). Liver and pancreatic enzymes were in the normal limits. The hematologic panel was consistent with mild normocytic anemia with a hemoglobin of 11.2 g/dL along with leukocytosis with a white blood cell count of 16.6 × 109/L. Platelet count was normal at 299 × 109/L. A peripheral blood smear was within normal limits. A chest radiograph was unremarkable. A non-contrast computed tomography (CT) scan of the abdomen revealed fluid-filled distention of the stomach and proximal duodenum with concern for proximal small bowel obstruction.
The patient was admitted to the intensive care unit given her various metabolic disturbances and was treated conservatively for partial small bowel obstruction. After optimization of her kidney function, a repeat scan of the abdomen with contrast was performed. An irregular mass-like thickening at the level of the second/third portion of the duodenum was identified resulting in severe luminal narrowing. Also, peritoneal "carcinomatosis" with multiple target lesions was noted (Figure ). The overall picture was concerning for metastatic carcinoma. Later, serum carcinoembryonic antigen (CEA) and Ca 19-9 levels were checked and were within normal limits.
An upper endoscopy was performed the following day revealing a frond-like friable obstructing mass in the second portion of the duodenum of which biopsies were taken (Figure ). Large-sized lymphocytes were seen (Figure ).
Immunohistochemical stains demonstrated that these cells were strongly and diffusely positive for cluster of differentiation (CD)20 and CD79a, and negative for CD3, CD5, CD10, CD30, B-cell lymphoma 2 (Bcl-2) and pan-cytokeratin. Additionally, nuclear staining in about 40% of the neoplastic cells was present for c-Myc and in more than 30% of cells for Bcl-6. A diagnosis of DLBCL with germinal center immunophenotype was made (CD10 negative, Bcl-6 positive, MUM-1 negative). The Ki-67 index was elevated within the B cell population at 60%-70%. No assay specific abnormalities were detected by Bcl-2, Bcl-6, and c-Myc fluorescence in situ hybridization (FISH) probes. Completion staging with neck, chest, and pelvic CT scans failed to demonstrate any additional evidence of disease. A bone marrow examination showed no involvement by lymphoma. Human immunodeficiency virus (HIV) and hepatitis serologies were negative. Serum lactate dehydrogenase was mildly elevated at 318 U/L. Given the patient’s peritoneal lymphomatosis and weight loss, she was diagnosed with stage IV B lymphoma by Ann Arbor staging.
Given the aggressive presentation with evidence of bowel obstruction and peritoneal involvement (along with markedly elevated Ki-67), the decision was made to start treatment as an inpatient. Therefore, cycle 1 of rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) was administered, and the patient tolerated the treatment well. Central nervous system (CNS) analysis and chemoprophylaxis were not performed as she was considered intermediate-risk for CNS involvement. A few days after the completion of cycle 1, she was able to tolerate oral feeding and she was discharged home. She received the remainder of her treatment as an outpatient and completed a total of six cycles of systemic chemotherapy. She exhibited significant clinical and radiographic improvement throughout her treatment. In fact, a repeat scan after six cycles showed improved luminal duodenal narrowing with resolution of the peritoneal deposits (Figure ). A push enteroscopy was also performed to assess for local response and demonstrated no evidence of disease. She remains now disease-free 15 months after her diagnosis and 10 months after completion of her treatment. |
pmc-6615586-1 | A 58-year-old Caucasian male presented to dermatology complaining of rash and limited mobility of his bilateral ankles of nine months duration. He had a history of acute myeloid leukaemia, status post reduced intensity conditioning matched unrelated donor hematopoietic stem cell transplant (allo-HP SCT) with complete remission, as well as a history of low-grade papillary urothelial invasive bladder carcinoma and multiple sclerosis treated with ocrelizumab for 18 months. Of note, allo-HP SCT (2011) was complicated by grade II aGVHD and mild extensive cGVHD with Sicca syndrome affecting the oral cavity, lacrimal glands, joints and scalp hair, with a 2014 conjunctival biopsy showing chronic conjunctivitis with prominent lymphocytic follicles and scar. On examination, involving the bilateral medial ankles, were linear, well-demarcated, bound-down, patches with central hypopigmentation and peripheral erythema (Figures -). The skin appeared taught; on a range of motion examination, there was limited motion with flexion, while extension remained intact. There were no oral or ocular lesions and no nail changes.
A punch biopsy on the left ankle revealed prominent septal and fascial fibrosis with mild chronic inflammation (Figure ). Laboratory testing including complete blood count with differential, complete metabolic panel, and lactate dehydrogenase were within normal limits.
We recommended starting tacrolimus 0.1% ointment and tretinoin 0.1% cream twice daily to the affected areas of the ankles. The patient was also continued on an oral prednisone taper, which had been initiated by another provider. In addition, the patient was referred to physical therapy to help measure baseline movement and restriction along with providing exercises to help increase range of motion. |
pmc-6615587-1 | Our patient is a 60-year-old male with a past medical history of hypertension and peptic ulcer disease. He presented to the outpatient clinic of the neurosurgery department for progressively worsening headache and repeated episodes of syncope. As a part of outpatient workup, he underwent CT of the head, which showed lobulated pituitary soft tissue mass noted in the sella turcica region. The mass was 1.8 cm x 1.7 cm x 1.4 cm (macroadenoma) with displacement of the optic chiasm (Figure ).
No sella bony erosion was identified. Visual field testing performed was reported to be normal. He was referred to an endocrinologist for further evaluation of the pituitary macroadenoma. Hormonal workup ordered by the endocrinologist revealed low testosterone 85 ng/dl (normal value: 270-1070 ng/dl) and low luteinizing hormone 1.0 mIU/ml (normal value: 1.6-15.5 mIU/ml) as the only hormonal abnormalities. The results of other hormonal workup included: plasma adrenocorticotropic hormone 13 pg/ml (normal value: 6-50 pg/ml), follicle stimulating hormone 3.4 mIU/ml (normal value: 1.6-8 mIU/ml), insulin-like growth factor-1 100 ng/ml (normal value 41-279 ng/ml), prolactin 6.2 ng/ml (normal value: 2-18 ng/ml), and thyroid stimulating hormone 3.09 mIU/l (normal value 0.40-4.50 mIU/l).
The endocrinologist referred this neurosurgery team patient further to the ENT service for surgical management of the pituitary macroadenoma. The patient underwent CT-guided stereotactic endoscopically assisted transsphenoidal resection of the pituitary macroadenoma by the ENT team with the collaboration of the neurosurgery team. During the procedure, the anterior portion of the sphenoid sinus was entered and mucosa was removed. Using the Brainlab stereotactic system (Brainlab AG, Munich, Germany), the lesion was identified posterior to the sphenoid sinus. At that point, the posterior wall of the sphenoid sinus was removed with an osteotome and a Kerrison rongeur. The posterior capsule of the pituitary was opened sharply with a number 11 blade and the pituitary tumor was then removed with a ring curet. The frozen section was consistent with a pituitary adenoma. The tumor was then removed with suction and pituitary rongeurs. Inspection with the endoscope revealed gross total resection of the adenoma. At that point, the tumor cavity was packed with Surgiflo and the posterior capsule was then lined with Duragen (Integra LifeSciences, NJ, US). The mucosal flap was then placed over the posterior wall of the sphenoid and reinforced with Duraseal (Integra LifeSciences) to provide watertight closure. The patient initially did well after the surgical procedure. He was alert and oriented. He was able to ambulate independently and was tolerating a regular diet as well. No headache, confusion, dizziness nasal congestion, vision changes (blurry vision, loss of color perception, diplopia), or cognitive dysfunction was reported by the patient postoperatively. The neurological exam also remained non-focal. Head CT performed on the postoperative day showed post-surgical procedure changes, with no acute intracerebral process that could be identified on imaging. The patient did not experience diabetes insipidus after the procedure and the serum sodium level remained within the normal range consistently. He was started on hydrocortisone 20 mg in the morning and 10 mg at dinner time after the surgery.
On postoperative Day 2, the patient had a sneezing episode. Almost immediately after that, he had a cognitive decline and started having a generalized headache. The mental status decreased further and he became somnolent but was responsive to verbal stimulus. He was found to be oriented to self and place and was able to follow commands but his response was very slow. He mentioned feeling weak in general. The neurological exam performed remained non-focal. CT of the head was repeated, which showed extensive pneumocephalus that had not been present in the previous study. Evaluation of the brain parenchyma was limited in this study due to artifacts from the large amount of pneumocephalus. However, there was a mass effect on the brain parenchyma due to air and the ventricular system appeared to be decompressed and slitlike (Figure ).
The likely suspicion was dislodgment of the skull base repair at the time of the initial surgery, causing TP to the patient. The patient was taken back to the operative room immediately. An urgent bifrontal burr hole evacuation of intracranial tension pneumocephalus was performed. The bilateral nasal septal flaps used previously to reconstruct the skull base were found to be intact, with no visible dehiscence or displacement from the skull base based on magnified endoscopic examination. The Duraseal was suctioned and the flaps were taken down. Duragen was then placed within the pituitary fossa. This was removed gently with suction. There was a cerebrospinal fluid leak (CSF) noted in the pituitary fossa. Duragen wrapped in Surgicel (Ethicon, Inc., NJ, US) was then placed back into the pituitary fossa as well as the inferior aspect of the sella and then the nasoseptal flaps reapproximated, providing an excellent seal of the entire posterior superior wall of the sphenoid sinus, including the openings into the sella. Additional Duraseal was placed and the flap was supported by two 8 cm Nasopores ((Stryker, MI, US): one inferior to the flap to provide support and prevent inferior displacement of the flap and one anterior to the flaps to compress the flaps against the opening into the sella. Two additional Nasopores, as well as surgifoam, were placed within the sinonasal cavity, one on either side for hemostatic control. Repeated CT scan performed post-procedure showed significant improvement in pneumocephalus, with small bifrontal collections, likely hygromas (Figure ).
The patient improved clinically post-procedure and had an improvement in cognition and mental functional status. He was started on intravenous (IV) vancomycin 0.75 gm daily and IV cefepime 2 gm every eight hours for a total of five days in duration. For seizure prophylaxis, the patient was started on IV Keppra 1000 mg twice a day and switched to oral Keppra 1000 mg twice a day at the time of discharge. The patient’s symptoms improved post-procedure and cognition returned to normalization. On postoperative Day Five, the patient was discharged home with recommended outpatient endocrinology, ENT, and neurosurgery follow-up. |
pmc-6615589-1 | A 69-year-old man who was a heavy smoker presented to the emergency department (ED) with worsening shortness of breath. His medical history was significant for well-controlled hypertension, chronic kidney disease stage III, and right solitary kidney from a left-sided nephrectomy for atrophic kidney from ureteropelvic junction obstruction. He reported feeling fine at his baseline until one week prior to presentation. He could walk miles earlier but now would become short of breath upon walking just a few feet. He denied any documented fever, night sweats, cough, hemoptysis or chest pain. Upon further inquiry, he also reported feeling bloated. He denied experiencing similar symptoms in the past. His outpatient medications included atenolol, allopurinol, atorvastatin and over the counter ant-acids and laxatives. He had normal vital signs with normal oxygen saturation on room air. Physical exam was notable for decreased tactile fremitus, and dullness upon percussion with reduced breath sounds on the right side. Routine lab work was within normal limits. The chest X-ray showed a large right-sided pleural effusion (Figure ).
He was admitted under observation status. An ultrasound-guided bedside thoracentesis was performed and yielded 1.5 liters of turbid orange exudative fluid. The pleural fluid was sent for chemical analysis and cytology. The patient improved symptomatically overnight and requested to be discharged home the very next day. He was sent home with a plan to follow up cytology results. The patient’s primary care physician was notified as well.
Within a week, he presented to the ED with recurrent right-sided pleural effusion, bloating and acute kidney injury. Computed tomography (CT) abdomen-pelvis at presentation showed right-sided hydroureteronephrosis extending down to the uretero-vesicular junction and an irregular bladder wall thickening concerning for primary bladder tumor (Figure ). In the interim, the pleural fluid cytology had tested positive for malignant cells concerning for metastatic carcinoma of primary urothelial origin (Figures -).
Urology, pulmonology, and oncology teams were involved in the case. Transurethral resection of bladder tumor (TURBT) was performed with removal of a 5-cm papillary, high grade appearing tumor along the posterior bladder wall. A double J ureteral stent was deployed on the right side as well. A pleurex catheter was inserted in the right pleural space and successful talc pleurodesis was performed post effusion drainage. The pathology report confirmed the diagnosis of invasive high-grade urothelial carcinoma invading the lamina propria.
Hematology-oncology unit planned for outpatient immunotherapy with Azetolizumab. Unfortunately, he was re-admitted directly from the infusion clinic for worsening acute kidney injury, hyperkalemia, and anasarca. He had a complicated hospital course that required high-level care including pressor support, mechanical ventilation, and renal replacement therapy. His clinical status continued to decline despite aggressive resuscitative efforts. He passed on day 36 from his initial presentation. |
pmc-6616359-1 | A 51-year-old man who worked at a building maintenance service was referred to our university hospital due to spontaneous bilateral groin pain that had continued for 1 month. The first doctor suspected an injury to the hip adductor muscle. The patient appeared to be a healthy middle-aged man. He was not an athlete and had no history of metabolic disease, diabetes, rheumatoid arthritis, impaired renal function, or use of corticosteroids. He smoked and drank heavily, averaging 30 cigarettes and 2000 mL of beer daily. He worked nights, and thus had inadequate sun exposure for more than 5 consecutive years. He reported no falls or other trauma. Physical examination revealed pain with hip movements. The patient was 166 cm tall, weighed 55 kg, and has a body mass index of 20.0 kg/m2. At presentation, physical examination revealed no hip deformities. The range of motion was 120° in flexion, 10° in extension, 30° in abduction, 20° in adduction, 40° in external rotation, and 10° in internal rotation in each hip. Neurovascular findings were normal for both lower extremities. Standard radiographic findings were normal except for mild pistol grip deformity in the right hip (). In the right hip, femoral neck-shaft angle was 128° and femoral neck anteversion was 10°; those values were 127° and 9°, respectively, in the left hip. Computed tomography multiplanar reconstruction showed a herniation pit indicating cam-type femoroacetabular impingement at the lateral femoral head-neck junction (A–C). Bone scintigraphy showed increased uptake in both femoral necks, indicating possible stress fractures (D). Findings from magnetic resonance imaging (MRI) of the pelvis indicated fracture on the compression side of the distal portion of each femoral neck (). His laboratory studies showed increased alkaline phosphatase (ALP) activity (511 U/L; reference range: 115–359 U/L), normocalcemia (9.2 mg/dL), and hypophosphatemia (2.1 mg/dL). The level of 25-hydroxy-vitamin D (25-OH D) was 7.5 ng/mL (<20 ng/mL is defined as deficiency), and parathyroid hormone (PTH) was 560 pg/mL (reference range: 160–520 pg/mL), indicating osteomalacia. Low bone mineral density (BMD) was noted on dual-energy X-ray absorptiometry DXA (lumbar: 0.805 g/cm2; T score, −1.7; Z score, −1.2; right hip total: 0.498 g/cm2; T score, −2.9; Z score, −2.6; left hip total: 0.490 g/cm2; T score, −2.9; Z score, −2.6).
We considered the patient’s past medical history, reviewed the risks and benefits of a surgical procedure [, , ], and decided to perform bilateral internal fixation with two 6.5-mm cannulated screws under general anesthesia (A–C). Because we wanted the patient to start walking with full weight-bearing as soon as possible after the surgery, we performed internal fixation on both the right hip (compression-sided fracture ≥50% of femoral neck width) and the left hip (compression-sided fracture <50% of femoral neck width). We received informed consent from the patient to perform hip arthroscopy on both hips to observe intra-articular pathology during the surgery and also to harvest bone marrow from iliac crest. Arthroscopic observation on the right hip showed typical pathological findings due to cam-type femoroacetabular impingement. The patient also had cleavage at the labro-cartilage junction and subsequent acetabular cartilage delamination classified as zone 2 grade 1 according to Konan’s classification [] (D). Histopathological examination showed the bone trabeculae to be relatively thin, considering the patient’s male gender and age (E). The undecalcified bone section showed an increase of unmineralized osteoid, suggesting the presence of osteomalacia (F). There were no postoperative complications. The patient was prohibited from weight bearing for 1 week following surgery, after which full weight bearing was encouraged with two crutches. At discharge, 1 month after the surgery, the patient was free of pain and was able to bear his full weight without crutches. He received weekly alendronate sodium hydrate and adequate activated vitamin D (eldecalcitol 0.75 μg/day). One year after fracture treatment, he had no complaints. Laboratory tests showed normal levels of calcium, inorganic phosphorus, PTH, and 25-hidroxyvitamin D level. |
pmc-6616428-1 | A 23-year-old male with a history of migraine headaches for over 10 years was studied. The headaches responded favorably to usual analgesic treatment and worsened with physical exercise.
The patient looked for medical attention due to sudden and intense headaches in the occipital region with no evident cause, whose characteristics differed from the previous ones. An emergency computed tomography (CT) scan was performed, revealing the presence of a right occipital intracerebral hematoma that required immediate hospitalization and treatment for a month until resolution of the clot. One year after being symptom-free, he began to experience a mild to moderate oppressive headache in the right temporal region, which improved with analgesics for approximately 15 days. After that, the oppressive headache restarted with more intense hemicrania, accompanied by fatigue, short episodes of altered consciousness, sweating, multiple instances of projectile vomiting, and blurred vision of the left eye. General physical and neurological exams did not show any positive data, nor was there evidence of triggering events, such as traumatic brain injury, hematologic disorders, previous surgeries, or infections of the central nervous system (CNS).
Mood changes, including permanent irritability, aggressiveness, anxiety, diminished ability to think or concentrate, and temporo-spatial time disorientation, appeared during the follow-up period and a second CT-scan was performed.
Laboratory tests included the following: hemoglobin 133 g/L; leucocytes 8.1 × 103, platelets 373 u/L. A coagulogram indicated the following: suitable platelets, bleeding time 1.30 s, coagulation time 8 min, prothrombin time 15.2 s (control 13 s ± 3), and activated thromboplastin time 30 s; glycemia 4.83 mmol/L; glutamic oxaloacetic transaminase (GOT) 42.51 U/L; glutamic oxaloacetic transaminase (GPT) 42.29 U/L; cholesterol 4.24 mmol/L; triglycerides 0.90 mmol/L; creatinin 82.81 μmol/L; uric acid 280 μmol/L; total protein 72.15 g/L; albumin 41.30 g/L; negative human immunodeficiency virus (HIV) and non-reactive Venereal Disease Research Laboratory (VDRL).
Urgent multislice tomography showed a laminar SDH in the right fronto-parietal region, a posterior interhemispheric fissure at the level of the tentorium, and ipsilateral occipital intracerebral hematoma (2.2 × 2.3 cm in axial section), with a volume of 7 mL. These lesions produced a slight mass effect on the neighboring structures, and the midline was displaced 0.5 cm ().
Both hematomas were reabsorbed gradually (), with satisfactory clinical evolution after a two-month follow-up period. shows the increased frontal subdural hematoma and its extension to parietal and frontal lobes. Angiography revealed ecstatic cortical veins, one of them with saccular dilatation adjacent to the IPH (). For this reason, we decided to perform cerebral angiography, which confirmed the dural arteriovenous fistula. It connected the artery, a branch of the external carotid artery, with cortical veins in the superior sagittal sinus drainage (). After endovascular therapy, the evolution of the patient was satisfactory ( and ). Two years later, no bleeding had appeared, and the subsequent angiographic studies were negative. |
pmc-6616558-1 | A 41-year-old man had been diagnosed as having a middle esophageal diverticulum based on an upper gastrointestinal contrast examination performed when he was 30 years old. He had not received treatment because he was asymptomatic. Eight months earlier, he experienced chest discomfort after eating and visited our hospital. His past history is pediatric asthma. The diameter of his middle esophageal diverticulum was 47 mm, and the accumulation of contrast medium was observed in the diverticulum. A gastrointestinal endoscopy revealed a diverticulum in the right wall located 30 cm from the incisor row (Fig. ), and the diverticulum mucous membrane was partially covered by adherent white matter that was unstained with iodine (Fig. ), and narrowband imaging which revealed type A. We performed a biopsy, and the pathological findings of the endoscopic biopsy were atypical epithelium and no malignant findings. We confirmed the function of the lower esophageal sphincter, and the esophageal body peristaltic wave was observed to be normal using high-resolution manometry. We decided to perform a thoracoscopic diverticulectomy based on his symptoms and the possibility of malignancy suggested by the atypical epithelium. Surgery was performed with the patient placed in the prone position and four trocars inserted into the right thoracic cavity. A 12-mm trocar was inserted into the fifth intercostal space on the posterior axillary line. Only the left lung was ventilated, and a pneumothorax in the right chest was created using CO2 gas at 6 mm. Twelve-mm trocars were inserted into the seventh and ninth intercostal spaces at the level of the inferior scapular angle. A 5-mm trocar was then inserted into the seventh intercostal space on the posterior axillary line. The thoracoscope was inserted via the 12-mm port in the ninth intercostal space at the level of the inferior scapular angle. The operator used the 12-mm port in the seventh intercostal space on the inferior scapular angle line and the 5 mm port in the seventh intercostal space on the posterior axillary line. The assistant used the 12-mm port in the fifth intercostal space on the posterior axillary line. The endoscope was inserted into the lumen of the upper thoracic esophagus before the patient was placed in the prone position and kept in the esophagus throughout the surgery. Confirmation of the middle esophageal diverticulum was easily achieved, but the area was difficult to exfoliate because the diverticular wall had adhered to the lymph nodes of the trachea bifurcation. To achieve a complete resection of the diverticulum, threads were placed on the oral and anal sides of the diverticulum, the threads were pulled. A thoracoscope was inserted via the 12-mm port in the fifth intercostal space on the posterior axillary line and the surgical stapler was inserted via the 12-mm port placed in the ninth intercostal spaces at the level of the inferior scapular angle, and the diverticulum was resected using two sets of the Tri-Stapler (Fig. ). A postoperative upper gastrointestinal contrast examination revealed no abnormalities (Fig. ). Oral intake was initiated on postoperative day 7, and he was discharged on postoperative day 12. The histopathological findings were a true diverticulum with a muscular layer and a highly inflamed mucosa. No malignant findings were seen (Fig. ). Postoperatively, the patient visited the hospital at 1 month, 3 months, 6 months, and 1 year after the surgery. He underwent gastrointestinal endoscopy and upper gastrointestinal contrast examination 1 year after the surgery. We found no evidence of recurrence of the esophageal diverticulum. We are planning to repeat the upper gastrointestinal endoscopy at 2 years after the surgery. |
pmc-6616583-1 | A 68-year-old male patient (M3) with no underlying disease exhibited symptoms of #46 pain with a buccal gingival fistula. Tooth extraction and implant placement were planned under the diagnosis of a periapical abscess (Fig. a). After extraction of #46 in April 2008, an Implantium Superline 4.8 × 12 mm implant was placed. A buccally fenestrated 4-wall bony defect at the apical area was detected, and bone grafting was performed with Orthoblast II and a Bio-Arm barrier membrane with sutures (Fig. b, c). Four months later, the second surgery was performed (Fig. a). Six months after implantation, prosthetic treatment was carried out, and secondary stability was measured with an Osstell Mentor as 68 ISQ (Fig. b). Three months after insertion of the prosthesis, the patient exhibited symptoms of pain, hypersensitivity, and micromovement of the fixture. One month later, peri-implant curettage and antibiotic therapy were performed with an ISQ value of 59. Heavy occlusal forces with night clenching or bruxism were suspected due to fracture of the abutment connection of the #26 implant and observation of severe attrition on the upper and lower teeth. Eventually, the #46 implant was removed 6 months after prosthetic loading, and delayed re-implantation was planned for 3 months later (Fig. a). During the recovery period, a night guard was fitted to the upper dental arch to protect the teeth from parafunctional habits. In August 2009, a SinusQuick IS 5 × 11.5 mm implant was placed after the 3-month recovery period (Fig. b). At that time, the ISQ of primary stability was measured with an Osstell Mentor at 94. Three months later, the second surgery was performed, and the ISQ of secondary stability measured by the Osstell Mentor was 94 (Fig. a). Two months later, the final prosthetic treatment was completed (Fig. b). Since then, the implant has performed well, with regular check-ups 3 times a year. Two years later, night clenching and bruxism persisted with fracture of the cervical areas of residual teeth. Mobility of the #46 implant was observed in August 2016, approximately 6 years 7 months after prosthetic loading. After 2 months, the implant was replaced with a wide diameter Superline 7.0 × 10.0 mm implant with an ISQ of primary stability of 85, and the healing abutment was connected (Fig. a, b). Four months later, prosthetic treatment was completed (Fig. c). The final observation point was in November 2018, and the implant was maintained and had good prosthetic function after 1 year 9 months. |
pmc-6616583-2 | The F2 patient was 62 years old when she was first diagnosed and had no underlying disease. At the time of initial diagnosis in November 2011, she underwent extraction of #27 and bone grafting. Three years prior, maxillary sinusitis was reported at another dental clinic. The patient underwent endoscopic sinus surgery suspecting a tumor in the maxillary sinus at another otorhinolaryngology clinic and showed severe alveolar bone loss in both maxillary molar areas. An implant in the #26 site was placed at another dental clinic (Fig. a). In the CT view, the right maxillary sinus was observed to be close to the natural ostium, and an otorhinolaryngology consultation was obtained. In February 2012, bone grafting was performed by combining bone chips collected from the maxillary tuberosity with a bone rongeur, AlloMatrix, and InduCera after sinus lifting with a LASK (Lateral Approach Sinus Kit) kit by the lateral window approach. At the same time, supracrestal placement of implant #27 was performed with a 3-I NanoTite external 5 × 10 mm implant, and additional bone grafting was performed with Inducera and an AlloMatrix graft in the buccal area with an ISQ of primary stability measured with an Osstell Mentor at 66 (Fig. b). Three months later, the #27 implant's cover screw was exposed, the ISQ of secondary stability was measured with an Osstell Mentor at 62, and a healing abutment was connected (Fig. c). Five months after implantation, rotation of the implant fixture was detected during removal of the healing abutment for impression creation; treatment was stopped. One month later, the #27 implant was removed, and an Implantium Superline 6 × 10 mm was immediately placed using the trabecular compaction technique with ISQ of primary stability of 55 measured with an Osstell Mentor (Fig. a). Two weeks later, dull sounds and mild mobility of the fixture were observed. When checked 6 months after implantation, osseointegration was observed to have failed, and the implant was removed. After an 8-month healing period, the third implantation was performed with a flapless operation. A Superline 5 × 10 mm implant was placed, and the healing abutment was connected, with an ISQ of primary stability of 70 measured with an Osstell Mentor (Fig. b, c). Six months later, a cement-retained prosthesis was delivered (Fig. a). One year after prosthetic loading, peri-implantitis was observed. Therefore, subgingival curettage and injection of minocycline were performed in the gingival sulcus, and an increasing radiolucent lesion around the #26 implant was detected on periapical X-ray (Fig. b). After 3 months, peri-implant curettage on #26-27 implants, iBrush cleansing, KEY laser therapy, and injection of minocycline were performed. After 6 months, another round of curettage and minocycline injection was performed in the #26–27 implants (Fig. c). Marginal bone loss around the #26 and 27 implants was observed, but the implants survived without any symptoms. The final observation point was in January 2019, and the implants exhibited ideal loading at approximately 4 years 7 months (Fig. ). |
pmc-6617098-1 | A thirteen-year-old girl presented with several days of right-sided torticollis, gaze impairment, left-sided weakness, and changes in speech. Neurologic exam was notable for pseudobulbar affect, intranuclear ophthalmoplegia, left hemiparesis, and ataxia. Brain magnetic resonance imaging (MRI) showed a T2 hyperintense white matter lesion on left cerebellar hemisphere extending to the brainstem, with associated restricted diffusion and mild peripheral enhancement (a). A spine MRI showed an intramedullary T2 hyperintense lesion of the cord at T4–T5 with mild enhancement (b,c). Visual evoked potentials revealed reduced amplitudes bilaterally. A lumbar puncture showed 123 nucleated cells with lymphocytic predominance, normal protein and IgG index, and no oligoclonal bands. Serum NMO immunoglobulin G (IgG) was negative. The patient was initially diagnosed with clinically isolated syndrome (CIS) with brain stem and cerebellar presentation, with high risk for MS. She was treated with a five-day course of high dose steroids, followed by two doses of intravenous immunoglobulin (IVIG) and inpatient rehabilitation because of slow and poor recovery. She recovered significantly and was ambulatory at the time of discharge. Two months after initial presentation, she was readmitted with recurrence of gait instability, slurred speech, and left-sided weakness. Repeat brain MRI showed interval progression of the demyelinating process now involving the superior vermis and middle cerebellar peduncle with new patchy enhancement as well as longitudinal transverse T4–T7 T2/stir hyperintensity with cord swelling and patchy contrast enhancement. Lumbar puncture showed 13 nucleated cells, normal protein, high IgG index and six oligoclonal bands (one in serum). Aquaporin 4 antibodies (AQP4-ab) were positive and she was diagnosed with neuromyelitis optica (NMO). |
pmc-6617384-1 | A 10-year-old female Caucasian, born of non-consanguineous parents, had presented with generalised status epilepticus for more than 2 h, thus requiring intubation and admission to a paediatric intensive care unit. Prior to the seizure, she had been well but later recalled that she had strenuous physical activity at an outdoor pursuit centre. She was extubated after 24 h and, was discharged home after 3 days without any apparent neurological sequelae. One year later, at age 11 years, she had another prolonged generalised tonic-clonic seizure that terminated with benzodiazepines and intravenous phenytoin.
Apart from recurrent history of prolonged seizures, she had complained of fatigue and reduced exercise tolerance since early childhood. Her mother recalled that she had difficulties keeping up her peers around the age 2 years and had tendencies to avoid physical exertion. For long distances, she required the wheelchair to avoid excessive tiredness and myalgia. Since the onset of her first seizure, she had gradually struggled with her gait and felt significantly unsteady around age 12 years.
Another medical observation was her short stature and poor weight gain since age 5 years. After an unsuccessful trial of nasogastric tube feeding, she eventually had percutaneous enteral gastrostomy (PEG) to improve her growth. Her birth history was unremarkable and her early neurodevelopment was entirely appropriate, but she had been struggling academically following the onset of her seizures. Both parents were healthy and her other two siblings were clinically unaffected.
On examination, both her height (1.44 m) and her head circumference were <0.4th centile. She was 20 cm shorter than her predicted mid-parental height of 50th centile (1.64 m). Whilst, her weight had fallen from 75th centile at birth to the current 0.4th-2nd centile at age 16 years. From the neurological perspective, her gait was broad-based and her tone was low with proximal weakness. No other significant bedside examination findings were observed apart from mild degree of underdeveloped lower jaw (A) and a PEG tube. Fundoscopic examination of her eyes showed evidence of retinitis pigmentosa (B). |
pmc-6617465-1 | A 12-year-old girl presented to our hospital with a 3-year history of epigastric pain that appeared regardless of meals. Antacids and intestinal agents were ineffective for symptom management. For 3 years, the cause of her weight loss and growth disorder attenuated, and symptoms of nausea, vomiting, and diarrhea were not observed. She exhibited asthma symptoms when the seasons changed, but no treatment was required. On her initial visit to our hospital, her vital signs were normal; body temperature was 36.5°C, heart rate was 65 beats per minute, and blood pressure was 102/62 mm Hg. A physical examination revealed only mild epigastric tenderness. Her height was 157.5 cm (+0.8 SD) and weight was 40.7 kg (−0.6 SD).
Her white blood cells count was 7600/μL (normal range: 3300–8600) and eosinophil percentage increased to 12% (<5.6). C-reactive protein (0.03 mg/dL; <0.14), erythrocyte sedimentation rate (3.0 mm/h; 3.0–15.0), and serum amyloid A protein (1.5 μg/dL; <8.0) were normal. Total immunoglobulin E (IgE) antibody was increased to 532 IU/mL (<170). The patient's antigen-specific IgE antibody test results are shown in Table . Stool bacterial culture test did not detect pathological bacteria, and eosinophils in feces were negative.
To clarify the cause of her epigastric pain, we performed an esophagogastroduodenoscopy (EGD) which revealed linear furrows, esophageal rings, white exudates, and pallor throughout the esophagus (Fig. A and B). There were no obvious abnormalities within the stomach or duodenum. Lower esophageal biopsy specimens revealed hypertrophy and papilla formation in the stratified squamous epithelial layer. In the basal layer, we noted conspicuous deformation, regeneration, and infiltration of eosinophils (Fig. A and B). Contrast computed tomography examination of the chest and abdomen revealed no abnormalities. Notably, we observed no thickening of the esophageal wall. Ultimately, she was diagnosed with EoE based on EGD findings and pathological results.[
The patient commenced oral administration of PPI (esomeprazole 20 mg) for 8 weeks, with no improvement in epigastric pain. We suggested oral fluticasone propionate treatment, but the patient's parents expressed concern over steroid side effects. Therefore, we proposed an SFGED and reintroduction therapy for EoE.[ Owing to our inability to identify the suspected food by interview and no positive foods were identified with antigen-specific IgE antibody testing, SFGED was selected.
Initially, we planned to perform SFGED and reintroduction therapy at 6- and 2-week intervals, respectively.[ The 6 eliminated foods were eggs, soybeans, milk, wheat, seafood, and nuts. Figure shows her clinical course. At the time of admission, she exhibited persistent epigastric pain; however, the pain completely disappeared immediately after starting SFGED, and her symptoms abated for 4 days thereafter.
According to the initial schedule, SFGED was planned for 6 weeks, but as her symptoms disappeared, we determined SFGED to be effective and shifted toward reintroduction therapy. Eggs were reintroduced first. The patient consumed an egg dish at breakfast and lunch, resulting in reemergence of intolerable nausea and epigastric pain appeared 6 hours after breakfast. We immediately eliminated eggs, and her abdominal symptoms disappeared completely the following morning. After stopping egg dishes, we noticed no recurrence of abdominal symptoms.
Next, we eliminated soybeans. Even following 5 days of observation, no abdominal symptoms appeared. We originally planned reintroduction therapy at 2-week intervals, but no symptoms appeared and we therefore changed to a 5-day interval. Accordingly, milk, wheat, and seafood were reintroduced, and abdominal symptoms were observed, but during the 5 hours of observation, no abdominal symptoms appeared. Finally, unbearable epigastric pain appeared 6 hours after adding nuts 1 time. We subsequently completely eliminated nuts. The next morning her abdominal symptoms disappeared.
As a result of reintroduction therapy, we determined that eggs and nuts caused our patient's EoE, and these foods were completely eliminated. Six months have passed since that decision, during which the patient has been free of epigastric pain, urticaria, and anaphylactic symptoms suggestive of food allergies. |
pmc-6617590-1 | The first patient was a 60-year-old male who was diagnosed with CLL (Binet B, Rai I) in October 2017 and recovered after symptomatic treatment. His serum prostate-specific antigen (PSA) level was elevated while being treated for CLL (11.42 ng/ml). Pelvic enhanced magnetic resonance imaging scan showed abnormal signals in the left posterior peripheral zone of prostate and diffuse lymphedema in pelvic cavity. Prostate biopsy showed a Gleason score of 5 + 5 = 10, indicative of high-risk prostate cancer with a 36% probability of lymph-node involvement according to the “Partin Tables”. Bone emission computed tomography scan was normal. Patient received neoadjuvant androgen deprivation therapy with goserelin 10.8 mg Subq every three months and bicalutamide tablets 50 mg p.o. q.d. for three months prior to his robot-assisted radical prostatectomy and extended lymphadenectomy in February 2018. His preoperative serum PSA level was 0.05 ng/ml. The prostatic envelope of the patient was intact. Diffuse lymphedema was observed in the patient’s pelvic cavity during surgery. Prostate pathology showed fibrosis, foam cell response, and a small amount of cancer tissue. The immunohistochemistry of lymph nodes showed CK(−), CD20(+), CD79a(+), CD3(−), CD5(−/+), CD21(+), CD23(+), Bcl2(+), Bcl6(−), CD10(−), Cyclind1(−), and Ki67(20%), which leads to the consideration of CLL. Patient developed prolonged lymphatic cyst and recovered after drainage. He was discharged one month later. His catheter was removed seven days after surgery. However, the patient still uses four pieces of urine pad per day to date. Follow-up serum PSA levels were all 0.01 ng/ml for one, three, six, nine and 13 months after surgery (Fig. ). |
pmc-6617590-2 | The second patient was a 70-year-old male who was diagnosed with CLL (Binet B, Rai I) in May 2009. He recovered after symptomatic treatment and did not recrudesce or receive additional therapy. His serum PSA level was found elevated during routine screening (29.92 ng/ml). Pelvic enhanced magnetic resonance imaging scan showed abnormal signals in the left peripheral zone, middle transitional zone, and right peripheral zone of prostate gland. Magnetic resonance imaging scan also showed lymphadenopathy adjacent to bilateral iliac vessels of his pelvic cavity. A prostate biopsy established the diagnosis of prostate cancer with a Gleason score of 3 + 3 = 6 (high-risk prostate cancer). The “Partin Tables” indicated a 2% probability of lymph-node involvement. 18F-fluorodeoxyglucose (FDG)-positron emission tomography/computed tomography (PET/CT) showed moderate FDG-avidity in the right peripheral zone and transitional zone of prostate and diffuse lymphadenopathy across the entire body with mild FDG-avidity, of which the maximum standardized uptake value (SUVmax) was 2.5 (Fig. ). Patient received androgen deprivation therapy (Leuprolide 3.75 mg Subq p.m.t. and flutamide 250 mg p.o. t.i.d.) for one month. Preoperative serum PSA level was 2.1 ng/ml. Robot-assisted radical prostatectomy and lymph node biopsy were performed in April 2018. The prostatic envelope of the patient was intact. Diffuse lymphedema was observed in pelvic cavity during surgery (Fig. ). Prostate pathology showed a tumor with a maximum diameter of 1.5 cm, as well as a 3 + 4 = 7 Gleason score. The immunohistochemistry of lymph nodes showed CK(−), CD20(+), CD79a(+), CD3(−), CD5(−/+), CD21(−/+), CD23(+), Bcl2(+), Bcl6(−), CD10(−), Cyclind1(−), and Ki67(10%), considering CLL (Fig. ). Patient experienced no perioperative complications and was discharged four days after surgery. His catheter was removed seven days post-operation. Urinary functions recovered three months post-operation. Follow-up serum PSA levels were all ≤0.02 ng/ml for one, three, six and nine months after surgery (Fig. ). |
pmc-6617599-1 | A 69-year-old man with a past medical history significant for hypertension and sigmoid adenocarcinoma (UICC 2012: pT4 pN2 M0) underwent sigmoid colectomy and adjuvant chemotherapy (2015). No pancreatic mass was described at the computed tomography (CT) images performed after colectomy. During the follow-up, a magnetic resonance imaging (MRI) showed a 1.5-cm nodule of the pancreatic tail, non-homogeneous, hyperintense on T2-weighted and hypointense on T1-weighted sequence, and a focal lesion inside hyperintense on T1. Endoscopic ultrasonography (EUS) revealed a 1.5-cm anechoic nodule, with two hyperechoic foci ascribable to calcifications. The needle biopsy (EUS-FNA) was not performed due to difficulties of endoscopic examination (the nodule was too far from the duodenal wall). 18-Fluorodeoxyglucose positron emission tomography ([18-F] FDG-PET) did not show FDG uptake.
Follow-up indication was given. After 8 months, this lesion showed a volumetric increase (2 cm) both at computed tomography (CT) and MRI (Fig. and Fig. ) without pathological uptake at FDG-PET. Tumoral markers (CA 19.9, CEA, alpha-fetoprotein) were negative. A 68-Ga-Dotatoc PET/CT, more sensitive and specific for neuroendocrine tumor (NET), showed a focal area of uptake (Fig. ), but neuroendocrine markers (gastrin, chromogranin A, calcitonin, 5-hydroxytryptophan) were negative. Given the suspicion of NF-P-NET and close contact to splenic vessels, the patient underwent open distal splenopancreatectomy (Fig. ) with an unremarkable postoperative course.
Definitive histologic examination revealed an intrapancreatic accessory spleen, with multiseptated epidermoid cyst (Fig. ). |
pmc-6617604-1 | A 38-year-old woman presented with mild intention tremor of her hands that had developed at the age of 22. This symptom had been slowly progressive and had been accompanied with speech impediments characterized by a slow rate of speech and a flat voice since the age of 37. The patient complained of mild memory decline, mild tinnitus in both ears, and occasional dizziness. From a young age, she had experienced poor vision in both eyes, which had gradually worsened. She had a history of hyperthyroidism and had been disease free before the onset of neurologic symptoms. The patient was born of a consanguineous union. The family diagram is presented in Fig. c.
A neurological examination indicated scanning speech, horizontal nystagmus in both eyes, cerebellar ataxia and postural tremor in the upper limbs at a frequency of approximately 8 Hz. Bilateral prolonged latency and a slightly reduced amplitude of the P100 wave in the visual evoked potential and central injury in the brainstem auditory evoked potentials were detected. The visual acuity was 0.15 in the right eye and 0.10 in the left eye, which was not corrected by eyeglasses. Optical coherence tomography (OCT) indicated macular atrophy, especially in the outer segment layer. Fundus fluorescence angiography (FFA) showed strong macular fluorescence changes, indicating pigment epithelium atrophy, and spots inside that were lacking fluorescence, indicating choroidal capillary atrophy. Thyroid-stimulating hormone and parathyroid hormone levels were slightly elevated. Examinations of cognitive function and motor and somatosensory evoked potentials were normal.
Conventional magnetic resonance imaging (MRI) showed confluent white matter abnormalities with hypointense T1-weighted and hyperintense T2-weighted signals, with the symmetrical involvement of the internal capsules, cerebral peduncles, and middle cerebellar peduncles (Fig. a-d). Diffusion-weighted imaging (DWI) showed hyperintensity in the pathological areas, with no restrictions on the apparent diffusion coefficient (ADC) map. No enhanced lesion was found on the post-gadolinium T1-WI sequence. The brain atrophy was unremarkable. Brain DTI images were acquired and compared to those from three gender- and age- (less than 5 years apart) matched healthy controls. Decreased fractional anisotropy (FA) values were found in almost all regions with white matter hyperintensity (WMHI), as well as in specific structures of normal-appearing white and gray matter [see Additional file ]. A reduced fiber number (FN) was detected in areas with obvious FA reductions, when compared with that in the controls [see Additional file ]. The findings also revealed decreased axial diffusivity (AD) in the optic nerves, and increased radial diffusivity (RD) in the middle cerebellar peduncles and cerebral peduncles of the patient. On diffusion tensor tractography (DTT), the white matter tracts of interest were visibly thinner than those in the controls, as illustrated in Fig. e.
Whole-exome sequencing revealed a novel homozygous c.2257C > T (p.Arg753Ter) mutation in exon 20 of the CLCN2 gene, which was a nonsense mutation that altered the 753rd Arg in the encoding protein and generated a stop codon (Fig. a, b). This change was not reported in any genetic database. Homology modelling suggested the disruption of cystathionine beta-synthase (CBS) domain by this variant (Fig. d), which was considered to be pathogenic. The patient’s mother was a heterozygous carrier of this mutation. |
pmc-6617628-1 | A 30-year old woman was admitted to our hospital to undergo renal biopsy. According to her medical records, microscopic hematuria was detected on every urine analysis since her birth. At 16-years-old, the potential causes were closely examined. However, no diagnosis was made. Renal biopsy was not performed at that time because the patient’s manifestation was only microscopic hematuria without increased urinary protein or other signs of renal dysfunction. A few years later, she chose to stop her regular visits to the doctor. When she was 27-years old, she became pregnant. Upon her initial visit at the department of obstetrics and gynecology, she tested positive for hematuria. In the 30th week of pregnancy, her urine tested positive for the presence of protein but the results returned to normal after puerperium. Further, the patient experienced hypertension soon after delivery, but her blood pressure was normotensive during all other periods. Through entire pregnancy and post-partum, evidence of hematuria remained upon testing her urine samples.
The patient did not experience any subjective or objective symptoms associated with kidney disorders such as, fever, deafness, hemoptysis, or rash. In addition, she was not taking any medication. Her urinary findings did not change over 2-years. The urinary protein level was 60 and 40 mg/day in 2016 and 2018, respectively. Hematuria was assessed using a urinary occult blood test resulting in 3+ and 2+ in 2016 and 2018, respectively. In addition, the urinary dysmorphic red blood cell (RBC) sediment was 50–99/high power field (HPF) and 30–49/HPF in 2016 and 2018, respectively. In contrast, serum creatinine levels increased from 0.57 mg/dl to 0.86 mg/dl during the same 2-years, without special events.
The patient had a history of far-sightedness, astigmatism, and strabismus from birth as well as polycystic ovarian syndrome diagnosed at the age of 27-years. Her family history included a paternal grandmother with a subarachnoid hemorrhage and a father with hypertension. There was no family history of renal dysfunction or urinary abnormalities.
Physical examination results on admission were as follows: height 152 cm, weight 42.0 kg, body mass index (BMI) 18.2 kg/m2, body temperature 36.8 °C, blood pressure 99/76 mmHg, and pulse of 73 beats/min. Hearing loss, skin manifestations, and joint symptoms were not detected. In addition, the patient’s respiratory sounds were normal and abdominal tenderness was not detected. Laboratory data showed renal insufficiency [serum creatinine, 0.86 mg/dl; estimated glomerular filtration rate (eGFR), 64 ml/min/1.73 m2] and hematuria (urinary occult blood, 3+; urinary dysmorphic RBC sediment, 11.3/HPF) (Table ). eGFR was calculated by serum creatinine concentrations using the Japanese eGFR equation []. The patient’s urinary protein level was 60 mg/day, which is classified as normal to mildly increased proteinuria according to the Kidney Disease: Improving Global Outcomes 2012 Clinical Practice Guidelines []. Immunological testing showed no abnormal findings (Table ).
The kidney size was within normal limits (right: 109 × 58 mm; left, 108 × 62 mm) and compression of the left renal vein between the aorta and proximal superior mesenteric artery, which would suggest Nutcracker syndrome, was not detected on abdominal computed tomography (CT). However, the density of the renal cortex was remarkably low (Fig. a). In addition, numerous small high-intensity spots were distributed within the subcapsular cortex on magnetic resonance imaging T2-weighted image (Fig. b).
The differential diagnosis of hematuria from early childhood include IgA nephropathy, Alport syndrome, and TBMN. Therefore, we performed renal biopsy the day after admission. Renal histological examination revealed global sclerosis in 5 of 22 glomeruli, cystic dilatation of the Bowman’s capsule in 3 of 22 glomeruli (14.1%), and atrophy of the glomerular tufts (Fig. a and b). Immunofluorescence studies indicated no deposition of immunoglobulins or complement proteins. Type IV collagen staining showed normal expression levels of the α5 chain in the GBM and Bowman’s capsule (Fig. c to e). The renal biopsy samples obtained for electron microscopy examination did not contain cystic glomeruli and therefore, the detailed appearance of cystic glomeruli could not be evaluated. Electron microscopy revealed thinning of the GBM. The width of the GBM was measured at 30 random points to calculate the average value. The average thickness of the GBM was 191 nm, which exceeded criteria set forth by Haas et al. for the lower limit of normal thickness (215 nm for females) [] (Fig. f and g). Other morphological abnormalities, including electron-dense deposits and foot process effacement, were not identified on electron microscopy. Based on the above findings, the patient was diagnosed with TBMN accompanied by GCKD.
Although this patient had no recorded family history of GCKD, we examined whether there were any associations with known genetic mutations using next-generation sequencing. There were no pathogenic mutations of UMOD, MUC1, or SEC61A1, encoding uromodulin, mucin1, or Sec61 translocon alpha 1 subunit, which are causative proteins of autosomal dominant tubulointerstitial kidney disease, including GCKD. No pathogenic mutations of COL4A3 and COL4A4, encoding type IV collagen α3 and α4 of the GBM, were detected. Based on these results, we diagnosed the patient with TBMN coexistent with sporadic GCKD. The patient was discharged and followed closely without intervention. |
pmc-6617635-1 | A 12-year-old girl was first noted to have elevated alanine aminotransferase (379 U/L, normal: 0–40 U/L) and aspartate aminotransferase (218 U/L, normal, 0–40 U/L) when abdominal pain occurred at the age of 6 years. Viral serological markers (hepatotropic viruses, Epstein-Barr virus, and cytomegalovirus) were negative. Renal function tests, electrolyte and coagulation function were unremarkable. At the age of 7-year-old, her transaminase levels were still abnormal, and further investigations revealed low serum ceruloplasmin (< 0.079 g/L, cut-off value: 0.2 g/L) and increased 24-h urinary copper excretion (360 μg, cut-off value: 40 μg) []. No corneal Kayser-Fleischer ring was observed by slit-lamp examination of her eyes. There was no family history of liver disease. Her parents and biological younger sister all had normal liver function tests.
ATP7B (NM− 000053) sequencing identified two novel heterozygous mutations, c.2122-1G > T (paternal) and c.3044 T > C, p. (L1015P) (maternal). Neither of these mutations have been described and recorded in the Exome Aggregation Consortium Server () and the Thousand Genomes Project (). They were predicted to be disease-causing by MutationTaster (). L1015P was also predicted to be probably damaging with a score of 1.000 by PolyPhen2 (), and was predicted to affect protein function with a score of 0.00 by SIFT (). The patient was treated with a low-copper diet, and zinc gluconate (150 mg of elemental zinc daily in three divided doses, at least half an hour before meals, which was gradually increased to 240 mg/day due to persistently elevated liver aminotransferases and 24-h urinary copper excretion). She complained of occasional abdominal pain during the first three months of zinc therapy. Liver function tests returned to normal after six months. She has continued to take zinc at a dose of 240 mg/day, and avoids foods with high copper content. Since her age of 8 years, no further visits to physicians were made until the patient was 11 years and 4 months old, when she presented with a pale face and fatigue. Whole blood cell counts disclosed severe normocytic anemia and neutropenia. She attended a pediatric hematology clinic and underwent anemia-related tests with no remarkable findings including negative direct and indirect Coombs tests, normal glucose-6-phosphate dehydrogenase activity and serum ferritin level. Serum zinc level was 530 μg/dL(normal:75–150 μg/dL) and serum copper level was 127 μg/L(normal: 800–1290 μg/L). Bone marrow cytology showed myelodysplastic syndrome. She received transfusion of 2 units of erythrocyte suspension and continued oral zinc at her previous dose. There was no significant improvement in hematological parameters.
She returned to us 6 months later. Physical examinations revealed a pale face, mild hepatomegaly and abnormal gait, no splenomegaly, no ascites, no personality change, no paresthesias, no myasthenia, no hypertonia or hyperreflexia. Whole blood cell counts showed white blood cells (WBCs): 2.21 × 109/L (normal: 4–10 × 109/L), neutrophils: 0.08 × 109/L (normal: 1.8–6.3 × 109/L), red blood cells (RBCs): 1.37 × 109/L (normal: 3.5–5.5 × 109/L), hemoglobin (HGB): 4.0 g/dL (normal: 11–13 g/dL), mean corpuscular volume: 85 fL (normal: 82–100 fL), platelet count (PLT): 191 × 109/L (normal: 100–300 × 109/L), and reticular erythrocyte ratio: 2.21% (normal: 0.5–1.5%). Liver function tests demonstrated normal aminotransferases. Ferritin level was 313 ng/mL (normal: 13–150 ng/mL). 24-h urinary copper excretion was 30 μg. Serum copper level was low (56.3 μg/L, normal: 800–1290 μg/L). Serum zinc level was high (500 μg/dL, normal:75–150 μg/dL). Free copper level and 24-h urinary zinc excretion were not able to be tested. Renal function tests and urine analysis were unremarkable. Abdominal ultrasound revealed normal liver, spleen and gallbladder. There were no abnormal changes on brain Magnetic Resonance Imaging (MRI).Due to abnormal gait, studies of spinal MRI and cerebrospinal fluid were recommended, but rejected by her parents. In view of her severe anemia, 1 unit of erythrocyte suspension was transfused. We suspected that the anemia was possibly caused by hypocupremia secondary to zinc overtreatment. When zinc was withdrawn for 1 week, her hemoglobin level rose to 6.7 g/dL. She was then discharged and a normal diet was resumed. Low-dose zinc was recommended, but the girl’s parents refused the treatment though we told the possible flare of liver damage, even acute liver failure after the cessation of zinc treatment. The patient was regularly followed up with liver function tests, whole blood cell counts and indices of copper metabolism. At the age of 12 years and 2 months (4 months after discharge), her hemoglobin level normalized and normal gait was restored. The latest follow-up was in May 2018 (9 months after discharge), and her whole blood cell counts and liver function tests were all within the normal range. The patient’s hematological parameters, liver function tests, indices of copper and zinc metabolism are shown in Table . |
pmc-6617641-1 | A 3.5-year-old girl, Caucasian, who was a product of a consanguineous marriage (first-degree cousins, Fig. (timeline of case presentation) and Fig. a) was registered in our department due to petechia and nose bleeding. She was born at 37 weeks and 5 days of normal vaginal delivery. Her birth weight, head circumference, and height were 2.8 kg, 32 cm, and 46 cm, respectively. Although her development was in the normal range, the growth chart revealed that her height and head circumference were below the third percentile line, and her weight was around the 5th percentile line. In addition, she took zinc supplements due to her short stature. On physical examination, short stature, poor weight gain, microcephaly (head circumference; 46 cm) and skin hyperpigmentation were detected. She had a history of two-time hospital admission due to pneumonia.
Due to petechia, complete blood count was performed and the results identified anemia (Hb: 7.2 g/dL), leukopenia (WBC: 1.5 × 103/μL with an absolute neutrophil count of 455), and thrombocytopenia (Platelet count: 9 × 103/μL). Other laboratory and imaging findings, including C3, C4, ANA, dsDNA, CH50, Immunoglobulin level, TORCH study, metabolic panel, biochemistry studies, abdomen and pelvic sonography, brain MRI, lumbosacral and both hands X-ray, and echocardiography were normal. In addition, bone marrow aspiration and trephine biopsy revealed presented megakaryocyte and moderate to severe hypocellular bone marrow.
The patient had been on irradiated packed cell and platelet transfusion approximately every one month. She was a candidate for allogeneic bone marrow transplantation, but she did not have the HLA-match donor. She was under regular follow-up and occasionally referred due to epistaxis or pallor, and received irradiated packed cell and platelet.
Written informed consent was obtained from the parents. Whole blood samples were collected using EDTA tubes. Genomic DNA was prepared from peripheral leukocytes of the patient using the QIAamp DNA Blood Mini Kit (Qiagen, Germany) and then NanoDrop (ND1000, USA) was used to measure DNA concentration.
NGS covering immunological and hematological disorders was carried out on Illumina NextSeq500 machine to the sequence close to 100 million reads. Bioinformatics analysis of the sequencing results was performed using BWA aligner [], GATK [] and annovar [] as well as different databases and bioinformatics software such as REVEL, MCAP, ESP6500,1000G, Clinvar, CADD-Phred, SIFT, PolyPhen, GERP, PhastCons, LRT, Mutation Assessor, Mutation Taster, phyloP46way_placental, phyloP100way_vertebrate, SiPhy_29way, FATHMM_pred, RadialSVM, ExAC. Kaviar, GME, gnomAD.
To confirm the novel identified mutation, we performed Sanger sequencing of the genomic DNA from the proband. For this test, PCR was carried out for the patient’s DNA using the following primers: F-FANCF: CGCTGGGAGATTGACATG and R-FANCF: GACCCCAGTCTGTTAGCA (PCR product: 978 bp) to amplify a mutated region of FANCF. Then, Sanger sequencing was used to sequence amplified DNA with both forward and reverse primers using ABI BigDye Terminator Cycle Sequencing Kit (Applied Biosystems®, USA). The analysis of Sanger sequencing data was performed with NCBI BLAST and Codon Code Aligner software. Multiple sequence alignment analysis was performed using the SIB BLAST+ Network Service From () to compare the amino acid sequence of human FANCF proteins with other proteins across different Kingdoms. STRING (STRING: functional protein association networks, ), tool and KEGG database (, ) were also used to explain the FA pathway and its protein network.
Owing to suspicion to inherited bone marrow failure, chromosomal study with MMC on the peripheral blood lymphocyte culture of the proband was requested. To evaluate the types and rates of breakages and rearrangements in the chromosomes of the cells in the proband, GTG banding and the chromosome breakage test were performed on the patient’s blood sample. The blood sample was then cultured and treated with different concentrations of MMC.
NGS revealed a novel, private, homozygous, frame-shift deletion mutation in the FANCF gene (FANCF-201, ENST00000327470.4, NM_022725: exon1, c. 534delG, p. G178 fs, position 22,625,277 on chromosome 11). Using Sanger sequencing, the mutation was confirmed in the proband as homozygous (Fig. b and c). The identified mutation has not been reported yet in any database of genomic variants including ESP6500, 1000 Genome Project, ExAC, Kaviar, GME, gnomAD, and our internal database (Bayan Gene), confirming the novelty of mutation. This is the first report of FANCF mutation in Iranian patient affected with autosomal recessive FA, complementation group F.
The comparative amino acid alignment of FANCF protein across most kingdoms was also carried out. As shown in Fig. , most of the residues were highly conserved during evolution, and any frame shift mutations could be deleterious.
In the cytogenetic study, 100 metaphase spreads were studied from cultures prepared by adding MMC and compared to age-related control. The chromosomal breakage scoring was performed on 5 different slides (one untreated with MMC, one with 150 nM MMC concentration, one with 300 nM MMC concentration and one normal control sample treated with these 2 concentrations of MMC). 25 metaphases were evaluated on each slide for chromosomal aberration (gaps or breaks or radial formations). The results showed about 7–8 breaks/cell on average. In comparison to normal control sample which showed 0.3–0.5 breakages/cell. There was no radial formation in the normal control sample. The study showed 46, XX with multiple breaks and radial formation (quadri and triradial), compatible with Fanconi Anemia (Fig. , Additional file ). |
pmc-6617653-1 | A 52 year-old MSM consulted for PrEP prescription. At the initial consultation on the 6th of January, 2017 (M-1), he reported high risk behaviour but was asymptomatic and HIV seronegative. He was counselled on the appropriate use of condoms and asked to return for review one month later for follow up HIV testing and to initiate PrEP. He then returned for review the 7th of February, 2017 (M0). At this time he remained asymptomatic and HIV negative (assay performed with 4th generation combined antigen-antibody HIV ELISA test). As the patient was eligible for PrEP he was further counseled and then PrEP was prescribed (daily fixed dose combination of tenofovir disoproxil and emtricitabine, 1 pill per day). Explicit information was provided on a potential contamination risk despite PrEP and on the importance of maintaining a proper use of condoms. Written informed consent was obtained from the patient. On a one-month follow up consultation on the 7th of March, 2017 (M1), HIV tests proved positive using two different immunological assays: HIV Combi PT® and VIH Vidas Duo Biomerieux®. Positivity of plasma HIV RNA (96 323 copies/ml) was assessed as well. Perfect compliance of PrEP intake was reported by the patient and plasma drug levels were consistent with this. PrEP was ceased and a tri-therapy with darunavir ethanolate, ritonavir and dolutegravir was commenced. Then the patient reported to have had sex with 4 partners during the month preceding PrEP initiation and with two others in the month after.
The baseline blood sample (M0) was retested. Fourth generation Ag/Ab test was negative but HIV RNA was positive at 190 copies/mL. Genotyping and treatment sensitivity performed on the (M1) blood sample revealed virus resistance to both lamivudine and emtricitabine (Mutation M184I), but not to tenofovir. Phenotype and sensitivity tests showed a partial efficacy of PrEP suggesting possible contamination with a virus already presenting M184I mutation. |
pmc-6617744-1 | Our patient is a 40-year-old Asian man with complaints of bleeding and discomfort in his anus of 2 months’ duration. He was an employee with average income who did not smoke tobacco or drink alcohol. He had no weight loss or urinary symptoms, and no substantial family history. He denied any significant medical or surgical history. His abdomen was soft, non-tender, and non-distended, with normoactive bowel sounds. In examination, a mass could be touched by finger tips. The mass was large and bleeding. In subsequent examinations, blood was detected in a stool sample. His vital signs were: blood pressure, 130.77 mm Hg; respiratory rate, 18 breaths/minute; heart rate, 83 beats/minute; and temperature within normal limits. Oxygen saturation was 98% on room air on admission. In colonoscopy, a large lobular tumor was diagnosed at 4 cm above the dentate line, which was suspicious for malignancy. Various samples were taken from the tumor. The rest of his large intestine did not show a clear pathologic lesion in the colonoscopy.
High-grade adenocarcinoma was reported in pathological examinations. In subsequent diagnostic procedures, his carcinoembryonic antigen (CEA) level was normal. Computed tomography (CT) scans revealed that metastatic lesions were not detected in his liver, abdominal viscera, and chest. In CT scans with or without contrast, and magnetic resonance imaging (MRI) scanning, an ectopic kidney was detected incidentally on his right pelvis without any prior urinary symptoms. The left kidney was in its original location, and both kidneys were functional. Renal function tests provided normal results.
In subsequent investigations done by MRI scanning for staging the tumor, a pelvic rectum tumor was reported to be interfering with the T3 N1 mesorectal lymph nodes (Figs. , ). The case was discussed in a multidisciplinary cancer team; afterward, our patient was regarded as a candidate for neoadjuvant radiotherapy. He underwent 45 GY radiation in 25 fractions to the pelvis along with capecitabine. He underwent total mesorectal excision (TME) surgery to maintain the ectopic kidney 6 weeks later. After abdominal exploration, his abdominal viscera were examined. There was no metastatic lesion in his liver and abdomen (Fig. ).
After mobilization of the left colon and the splenic flexure, and the closure of the inferior mesenteric artery (IMA), in the avascular plane, the mesorectum was separated from the fascia propria, and the mesorectal lymph nodes and hemorrhoidal vessels in the anterior and pelvic nerves were fully mobilized, and the distal rectum was removed by an appropriate margin (Fig. ).
His right kidney was completely inside the pelvis, and while the kidney was carefully protected by the retractor, an attempt was made to minimize the damage to the ectopic kidney because there was a possibility of damage to the pelvic nerve and nephrectomy.
The blood of the right kidney appeared to be supplied by the right superior iliac artery. During the surgery, hematuria occurred to our patient, which was resolved by hydrating him. Then, coloanal anastomosis and temporary ileostomy were performed on our patient. He was transferred to our intensive care unit (ICU). He underwent laparotomy again due to anastomosis leakage a week following the surgery. As a result, a colostomy was performed. Postoperatively, after the reappearance of symptoms, stabilization, and healing of the wounds, he was referred to medical oncology and started adjuvant chemotherapy with 5-fluorouracil, folinic acid, and oxaliplatin (FOLFOX). Follow-up testing (for a year) included routine medical history and physical examination (every 3–6 months), blood tests such as serum CEA, colonoscopy, and radiologic imaging. He was dissatisfied with the permanent colostomy after the end of the treatment. However, the satisfying result was that his kidney was preserved (Additional file ). Before the surgery, the potential risks and damage to his ectopic kidney and the possibility of its removal were explained to our patient and his consent was obtained. His general condition is appropriate after 1 year and his quality of life has been reported to be satisfying despite the permanent colostomy. |
pmc-6617830-1 | A 28-year-old man (height 165 cm, body weight 80 kg, body mass index 29) with congenital hemophilia A was admitted to hospital with cervical swelling, difficulty vocalizing, and stridor during inspiration (Fig. ). The patient had complied poorly with medication and discontinued treatment 6 months earlier. Laboratory tests revealed impaired coagulation (activated partial thromboplastin time 95.8 s, prothrombin time-international normalized ratio 1.04).
The patient’s SpO2 was 97% in room air and his respiratory rate was 10 breaths/min. One hour later, his respiratory distress had progressed to orthopnea and his SpO2 had decreased to 92%. An otolaryngologist performed a transnasal endoscopic examination that revealed severe swelling and a large mass around the vocal cords (Fig. ). These findings suggested the possibility of imminent suffocation and a need for urgent securing of the airway.
The attending otolaryngologist and anesthesiologists discussed how to secure the airway and agreed to prepare for double standby. However, the otolaryngologist could not identify the CTM by conventional palpation, so an anesthesiologist searched for the CTM using ultrasonographic examination. The search was started from just above the jugular notch of the sternal manubrium because this site looked anatomically normal. However, although the thyroid cartilage could be identified easily on a transverse view, no clear picture of the CTM could be obtained. The anesthesiologist subsequently identified the CTM on a longitudinal view (Fig. ) and marked its location for surgical cricothyroidotomy.
Awake fiberoptic intubation was successfully performed via an oral approach under topical anesthesia with 8% lidocaine spray and intravenous administration of fentanyl 100 μg. The patient’s hypoxia did not worsen during the procedure. The patient was treated with steroid replacement therapy and coagulation factor VIII, and his glottic edema gradually resolved. The patient was extubated on day 6 and discharged without complications on day 13. |
pmc-6617840-1 | A 36-year-old male with an unremarkable medical history presented to the ophthalmology service with a 1-month history of a congested and painful left eye accompanied by a persistent left-sided headache. Ophthalmologic examination revealed a best corrected visual acuity of 20/20 for both eyes and an intraocular pressure of 20 and 15 mmHg for the right and left eyes, respectively. Biomicroscopy revealed significant conjunctival injection with engorged vessels in the temporal aspect of the patient’s left eye (Fig. a), which did not blanch after instillation of 10% phenylephrine. The cornea was clear, and 3+ cells were visualized in the left anterior chamber. The results of a dilated fundoscopic examination were normal. Laboratory studies demonstrated an elevated C-reactive protein level (25.7 mg/L) and erythrocyte sedimentation rate (32 mm/h). A thorough rheumatologic evaluation was unrevealing, and the following tests were normal, including total and differential white blood cell counts, rheumatoid factor, antinuclear antibodies, antineutrophil cytoplasmic antibodies, serology for syphilis and chest X-ray. A diagnosis of scleritis was made, and the patient received 40 mg oral prednisolone daily and topical 1% prednisolone 4 times daily. Though the ocular symptoms improved, the resolution was incomplete.
Four weeks later, the patient was referred to the dermatology service because physical examination revealed a rapidly-growing erythematous soft lobulated nodule (1.5 × 1.3 cm) on the right side of the patient’s face (Fig. b). An incisional biopsy specimen was obtained, and the pathological findings showed dense diffuse nodular infiltrate of epithelioid and multinucleated histiocytes with S-100 positivity mixed with neutrophils throughout the upper two-thirds of the dermis, which was consistent with atypical Rosai-Dorfman disease with abundant neutrophils. The facial nodule continued to grow while the patient was maintained on low-dose prednisolone (5 mg daily). Although intralesional triamcinolone injections were performed weekly for 5 weeks, the tumor continued to enlarge to 4 × 2.5 cm, so excision of the facial skin tumor was performed. The pathological diagnosis was RDD with excessive Demodex mites. The maintenance therapy included prednisolone and doxycycline along with prn intralesional triamcinolone injections.
Two months after the skin surgery, a painless, fixed, pink subconjunctival nodule was noted in the inferior-temporal aspect of his left eye (Fig. c), and surgical excision was scheduled. Pathological examination of the specimen demonstrated histiocytes with emperipolesis, cytoplasmic and nuclear S100 positivity, and a negative stain for CD1a, which were also compatible with RDD (Fig. a-d). In addition, 1 week after the ocular surgery, multiple discrete and confluent papulonodules rapidly evolved over the bilateral cheek, ear and scalp. Oral dapsone 100 mg daily was administered for 6 weeks and was then switched to methotrexate (MTX) 10 mg once weekly due to poor response. The patient underwent another excision of the tumor on the right side of his face and intermittent intralesional triamcinolone injections. Finally, the lesions gradually flattened, and MTX was then slowly tapered to a maintenance dose of 2.5 mg per week after 4 months. At the 24-month follow-up, there were no signs of recurrence of the epibulbar tumor and facial mass or of involvement of other sites (Fig. d). |
pmc-6617841-1 | A 57-year-old Chinese female was referred to National University Hospital, Singapore in February 2016 for management of a hard swelling over her right TMJ. This patient suffered from chronic right TMJ pain for more than 5 years. She had consulted several physicians over the past few years, but could not obtain a definitive diagnosis. There was no prior treatment provided. Her past medical history includes surgical excision of left breast fibro-adenoma, recurrent upper urinary tract infection, stress urinary incontinence and infective colitis. She was on active follow up with the Otolaryngology department for hoarseness of voice. She was a non-smoker and non-drinker. There was no known history of any genetic disorder. The patient denied any history of trauma or infection to the jaw area. There were no other family members with a history of temporomandibular joint or jaw swelling.
On examination, a localized swelling was palpable over the right pre-auricular region which measured 15 mm by 20 mm. It was tender upon palpation and had a bony hard texture. The swelling appeared distinct from the TMJ capsule as it did not move when the right mandibular condyle translated anteriorly during mouth opening. On maximal mouth opening, the condylar translation at both TMJs was similar. The maximal mouth opening was normal. The overlying skin was normal in consistency and was not fixed to the swelling.
A series of lab tests were ordered, including liver function test, renal function test and complete blood count. All results were being found to be within normal ranges. A dental panoramic tomogram (DPT) was taken (Fig. ), but no distinct lesion could be observed at the right TMJ. Unenhanced computed tomography (CT) was taken subsequently (Fig. a-b). It revealed a sharply defined hyper-dense benign-looking ovoid mass measuring 10 mm by 13 mm by 20 mm within the subcutaneous layer over the right pre-auricular region. It was closely associated with the lateral aspect of the right TMJ. No bony erosion of the right TMJ was noted and both the joint capsule and mandibular condyle appeared normal.
The provisional diagnosis was tumoral calcinosis (TC) of the right TMJ. This was because the mass appeared distinct and was not contiguous with the right mandibular condyle. There was no erosion of the mandibular condyle. The joint space and capsule appeared preserved on CT. Other less likely differential diagnoses included synovial osteochondromatosis, synovial chondrosarcoma and osteochondroma.
In view of the swelling and chronic pain of more than 5 years, she was advised to undergo surgical excision of the calcified mass. Subsequently, surgical excision of the calcified mass was performed through a pre-auricular approach under general anaesthesia in March 2016 (Fig. a-b). Intraoperatively, the mass which was excised was juxta-articular in terms of location. It was well-circumscribed, bony hard on palpation and had no fixation to the TMJ capsule.
Histological examination of the specimen reported nodular fragments of amorphous pink matrix and fibrous tissue with calcified areas. There were areas of foreign body reaction. Figure there was no evidence of epithelial proliferation, atypia, neoplasm or malignancy. The specimen tested negative to Congo-red stain. Refractile crystals were not identified. The histological findings were compatible with tumoral calcinosis.
The post-operative recovery was uneventful. Pain at the right pre-auricular region was resolved after surgical excision of the swelling. There was no limitation of function of the right TMJ. Maximal mouth opening was normal and the patient could eat well. Upon histological confirmation of TC, a baseline serum electrolyte test was ordered for this patient. The baseline serum calcium and phosphate levels were normal.
The patient was reviewed regularly for 3 months. However, she subsequently defaulted on her follow-up appointments after the review in April 2016. She eventually returned for a review on September 2017, 17 months after surgical excision. There was no clinical recurrence noted. The pre-auricular skin wound healed with minimal scarring. She reported minor sensory deficit in the right pre-auricular region with a Visual Analog Scale score of 1/10. Other than the minor sensory deficit, there were no other adverse outcomes. She was able to functional well without any limitation or pain. Serum electrolytes were tested again and levels were normal. Further follow-up appointments were arranged. However, the patient defaulted on the subsequent appointments. |
pmc-6617845-1 | A 34-year-old Japanese heterosexual man presented to our hospital with a 4 cm heterogeneous mass in the right lower lobe (Fig. ). He had had a symptom of productive coughing, sore throat and nasal discharge for 5 days, but he had no fever and no dyspnea, and his general condition was good. He had a medical history of minimal lesion nephrotic syndrome and had received corticosteroid therapy until 4 months prior to his first visit to our institution. He was a current smoker (15 pack-years). He had had sexual intercourse with a woman other than his wife 4 months prior to his first visit. Physical examination revealed right inguinal nontender enlarged lymph nodes, and erythematous papular rash over the palms, soles and abdomen (Fig. ). However, cervical and supraclavicular lymph nodes were not palpable, and he did not have abnormal neurologic findings.
C-reactive protein level was elevated at 1.02 mg/dL as shown in the laboratory tests (Table ). The rapid plasma reagin (RPR) and Treponema pallidum hemagglutination test (TPHA) revealed titers 1:64 and 1:5,120, respectively, although Human immunodeficiency virus testing was negative. Chest X-ray (Fig. a) and computed tomography (Fig. b) revealed a single mass lesion (4 cm in size) in the right lower lobe, and enlarged lymph nodes (4.5 cm in size) in the right inguinal region.
Diagnosed as secondary syphilis, amoxycillin 1500 mg per day and probenecid 1000 mg per day were orally administered for 2 weeks. Subsequently, rash, inguinal lymph nodes and serological markers were improved (Fig. ), however, the lung mass remained unchanged in size (Fig. c). TBB confirmed the pulmonary involvement of syphilis by PCR techniques (tpp47-, and polA-PCR) (Fig. ), whereas malignancy and other possible infections such as bacteria and fungi were negative (Table ). Five months after the first visit, right basal segmentectomy was performed to exclude other comorbid diseases, especially malignancy. The remained lung mass was an abscess and histological analysis showed the granuloma formation by epithelioid histiocytes and Langhans giant cells with necrosis (Fig. ). The comprehensive PCR tests for multi-microbes were performed in the resected lung specimens, and no microbes were significantly positive (Table ). Subsequently, penicillin G 2.4 million units per day was intravenously administered for 2 weeks, and the pulmonary involvement has resolved without relapse after 8 months follow-up. |
pmc-6617874-1 | We present the case of a 60-year-old lady who initially presented with a pseudomonas empyema and a right hilar mass. Initial diagnostic bronchoscopy revealed no endobronchial lesion. She was treated under the respiratory and infectious diseases' teams with decortication and antibiotics which resulted in marked clinical improvement. Follow-up imaging showed a persistent right hilar mass, necessitating a repeat diagnostic bronchoscopy and biopsy. This revealed a non-small-cell lung cancer (NSCLC) adenocarcinoma which was EGFR and ALK negative.
Baseline staging imaging revealed that she had metastatic disease with a right lung primary lesion, mediastinal nodes, and adrenal, frontal skull bone, and left pelvic bone metastases (T4N2M1c). She underwent an FDG-PET scan as part of her staging investigations in June 2017, revealing an area of intense heterogenous FDG-PET avidity in the sigmoid colon. This was suspicious for a metastatic deposit or a complication secondary to diverticular disease (). However, a colonoscopy done 6 months prior had been normal. A CT scan was performed which demonstrated a focal area of thickening of the sigmoid colon (); however, given the recent colonoscopy findings, the possibility of malignancy was deemed less likely in this situation.
The patient had minimal comorbidities and palliative systemic treatment, including radiation, was organised. She proceeded to carboplatin plus gemcitabine chemotherapy and completed 4 cycles in September 2017. She received palliative radiation to the right frontal bone and left pelvis metastatic deposits. She was then commenced on maintenance pemetrexed chemotherapy in October 2017.
In March 2018, she had a repeat colonoscopy, which revealed two polyps and evidence of diverticulosis in the sigmoid and descending colon. The polyps were removed, and histopathology revealed no evidence of malignancy.
In April 2018, she developed asymptomatic low-volume brain metastases in the left temporal, left occipital, and right posterior frontal lobes ranging from 3 mm to 16 mm in diameter. She underwent gamma knife treatment to these lesions and proceeded to Nivolumab immunotherapy in April 2018.
After 2 cycles of Nivolumab, our patient developed mild lower abdominal pain, which she complained of during her outpatient oncology visits. This had been diagnosed as diverticulitis by her general practitioner, who commenced antibiotic treatment.
A CT scan demonstrated circumferential thickening of the bowel wall in the sigmoid colon and a suspicious-looking intraluminal tubular structure distal to this, suspicious for a foreign body (Figures and ). The patient could not remember ingesting anything unusual or ingesting a bone. She, also, did not have any further colonic instrumentation after her colonoscopy. There was some thought that this may have been a clip from her colonoscopy, although the appearance of the foreign body was not consistent with this. Nivolumab was ceased and antibiotics were continued.
The patient continued to eat normally during this time and reported no changes in her bowel habits. She had no fevers and the only abnormality on her blood results was a raised C-reactive protein. The clinical decision was to follow this closely with serial imaging. Progress imaging 2 weeks later confirmed persistence of this foreign body. Consequently, our patient was admitted due to ongoing lower abdominal and suprapubic pain and for intravenous antibiotics. A repeat FDG-PET-CT scan was conducted, revealing an intensely FDG avid mass in the midsigmoid colon (). The increase in size of the mass was concerning for a primary neoplasm or an extramural metastatic deposit from our patient's advanced lung cancer, given she had a colonoscopy which revealed no mucosal neoplasm.
Despite these findings, it was still possible that this was secondary to an inflammatory rather than a neoplastic process. The patient was scheduled for a flexible sigmoidoscopy to evaluate the intracolonic foreign body. This revealed a chicken bone impacted in the sigmoid colon (). The extent of the inflammation was such that the scope could not be passed 10 cm beyond the chicken bone. Nevertheless, the bone was easily removed with a snare. Imaging was conducted after 3 days to ensure there was no perforation or complication, as a result of procedure, given our patient's concomitant chemotherapy, following which she was discharged.
The patient unfortunately represented the day after discharge with a hip fracture following a mechanical fall. She underwent a hip replacement and during her postoperative recovery developed more abdominal pain. A further CT scan raised concern that this mass had become an intramural abscess with images displaying some gas locules within it (). She was managed with further intravenous antibiotics for 2 weeks. Progress imaging had revealed little change in the mass, and the antibiotics were ceased.
She was discharged and remained well the first week following her discharge. The following week, she developed worsening pain, fevers, and a subacute large bowel obstruction. She underwent an emergency laparotomy, at which time, she was found to have a large, fungating, and hard mass, which was densely adherent to the bladder. She underwent a resection of this sigmoid mass along with a contiguous segment of the bladder (). The segment of the bladder was repaired, and an end colostomy was fashioned. Histopathology confirmed that this mass was a large deposit of metastatic lung cancer ().
Unfortunately, during the course of her recovery, our patient had another fall and broke her other hip. She has since had this hip replaced and has recovered from her surgery and is managing her stoma. She underwent further rehabilitation and was discharged home. She remains on systemic treatment for metastatic lung cancer. |
pmc-6617879-1 | A 20-year-old African American female with a history of sickle cell disease (HbSS) and multiple previous admissions for vaso-occlusive crisis (VOC) presented to the hospital with severe generalized pain throughout her body. The patient was in severe distress. Her blood pressure was 155/101 mmHg, pulse 117 beats per minute, temperature 37.6 C, respiratory rate 25 breaths per minute, and oxygen saturation 98% on room air. Physical examination revealed poor bilateral air entry on lung auscultation due to splinting and an ejection systolic murmur over the aortic area. Mild-to-moderate tenderness was present over the extremities on palpation. Neurological examination was normal. Blood work showed leukocytosis, 12,800 with 53% neutrophil, 32% lymphocyte, and 1% band, hemoglobin 7.5 gm/dL, hematocrit 22.3%, platelet 181,000/dL, reticulocyte count 13%, lactate dehydrogenase 1144 IU/L, normal blood urea nitrogen, creatinine, and serum electrolyte studies. Liver function tests were normal except a total bilirubin level of 16.2 mg/dL. Chest X-ray was normal. The patient was started on IV hydration; analgesia was achieved by IV narcotics.
About 24 hours after hospital admission, the patient suddenly became unresponsive. Naloxone failed to improve her mental status. An emergent CT scan of the head revealed a large right-sided frontoparietal epidural hematoma with midline shift, subfalcine, and uncal herniation. No subgaleal or subperiosteal collection was noted. There was no noticeable bone infarction overlying the hematoma ().
Laboratory data at this time demonstrated a platelet of 45,000/dL, prothrombin time 19.7 Seconds, INR 1.7, activated partial thromboplastin time 43 seconds, and a fibrinogen level of 96 mg/dL, consistent with a diagnosis of disseminated intravascular coagulation (DIC). The patient was emergently taken to the operating room for hematoma evacuation (). Intraoperatively, no obvious bony abnormality was noted. Exchange transfusion was performed. The patient, however deteriorated, became hypotensive requiring multiple vasopressors and eventually died about 24 hour after surgical intervention from DIC.
Total 31 cases. R, right; L, left; N/S, not specified; B/L, bilateral; VOC, vaso-occlusive disease; FP, frontoparietal; PT, parietotemporal; DIC, disseminated intravascular coagulation; POA, present on admission; BS, bone scan; IO, intraoperatively. |
pmc-6617909-1 | A 75-year-old female presented acutely with a history of sudden onset paraesthesia and ischemic rest pain involving the left foot and ankle. Motor function was retained, capillary and superficial venous return were reduced, the foot was cold, and there were no palpable pedal pulses. The calf remained soft to palpate. There was no history of palpitations or arrythmia, and the patient was in sinus cardiac rhythm both clinically and on electrocardiography. Plain chest radiography and computed tomography angiography (CTA) excluded a proximal arterial source of embolism. Furthermore, there was no previous trauma, (local or systemic) infection or inflammation, collagen, connective tissue or genetic syndromes, or arteritis; nor was there a family history of aneurysmal disease. Positive cardiovascular risk factors included hypercholesterolaemia and hypertension. Baseline haematological and biochemical analyses were normal, as were the renal and liver function. The creatinine kinase was within normal limits. The right foot was well perfused with a palpable PTA pulse.
CTA demonstrated no significant stenosis in the supragenicular vessels bilaterally. On the symptomatic left side, the tibioperoneal trunk (TPT) and anterior tibial artery (ATA) were patent proximally, with the ATA and peroneal artery occluding in the distal calf. The dorsalis pedis was occluded; however, the plantar arteries reconstituted. Dominant flow to the foot was via the PTA, which occluded in the distal calf (). These findings were considered reflective of embolic disease within the left-sided tibial arteries. The asymptomatic right leg demonstrated dominant flow to the ankle via the PTA. The ATA and peroneal arteries occluded in the midcalf.
Due to the acute nature of the patient's symptoms, emergent thromboembolectomy of the popliteal and tibial arteries was performed via a medial approach to the distal popliteal artery. Selective thromboembolectomy using Fogarty catheters for each tibial artery was unsuccessful. Urokinase was also injected into each tibial artery without effect. Subsequent exposure of the dominant PTA at the ankle demonstrated a thrombosed 10mm diameter aneurysm. A PTA thrombectomy was performed and subsequent angiography demonstrated flow to the foot via the aneurysmal PTA (). The aneurysm was opened and demonstrated a mixture of old, organised, and fresh thrombus (). The PTA aneurysm was excised and thrombectomy established adequate inflow and backflow to the excised PTA segment. The PTA was repaired using an interposition long saphenous vein graft (). Postoperatively, the PTA pulse was present, the foot had brisk capillary refill, and motor and sensory function normalised. Follow-up at 16 months demonstrated the patient to have a well perfused left foot with a palpable PTA pulse.
Although the patient's contralateral foot was asymptomatic, she opted to have this repaired electively considering the aneurysmal right PTA aneurysm was the single arterial supply to the foot. Repair was performed via excision of the 8mm PTA aneurysm and a spatulated primary end-to-end PTA anastomosis. Completion angiography was satisfactory, and the right foot was well perfused with a palpable PTA pulse postoperatively. Histopathology of the right-sided PTA aneurysm demonstrated findings consistent with atherosclerotic degenerative aneurysmal disease. Specifically, there was intimal thickening, extensive lamina disruption, and broad areas of media replaced by collagenous fibrous tissue, with calcification of the media. There was no inflammation or mural necrosis seen. |
pmc-6617922-1 | A 50-year-old Caucasian female visited the regional dental office due to uncertain pain in the right mandibular region. No significant diseases were mentioned in the anamnesis. The patient was diagnosed with gingivitis, and treated with a non-steroid anti-inflammatory drug and oral rinsing with chlorhexidine. The condition of the patient did not improve significantly. When she returned a week later, she had no alleviation, but labial paresthesia on the right side of her lip. As the cause of the new symptom remained unidentified, she was referred to the oral surgery group. Initially, the paraesthesia affected only the right side of the lower lip, but by this time it had spread to the skin of the right side of her chin. The oral surgeons decided to extract the lower right wisdom tooth, but the labial paraesthesia still persisted. Since there was an extended composite restoration in the lower right first molar, and translucency around its apical region was visible, the lesion was diagnosed as periapical granuloma. The lesion on tooth 46 was not close to the mandibular canal; this can be seen on Fig. . Therefore, root canal treatment was carried out, despite the uncertain result of the percussion, palpation and sensibility test. The transparent lesion around the apex and the negative sensibility test lead to the decision of endodontic treatment. Diagnosis was made by a dentist who is not a staff member of our Department. The treatment revealed that the pulp was vital. Our oral diagnostic team examined the patient, and we diagnosed the case as cemento-osseous dysplasia based on the panoramic radiograph showing apical translucency lesions around the anterior teeth with vital pulp (Fig. ). The paraesthesia has been continually present ever since. Because the lesion around the lower right canine had already involved the cortical bone by CBCT scan (Fig. ), a root canal filling and removal of the apical lesion were performed. On the CBCT image the involvement of the entire periapical region can be seen including the lingual region and the buccal cortical (Fig. ). It became clear during the planning of the surgery that the blood vessels and nerves of tooth 43 would be injured.
The root canal treatment was carried out on the lower right canine in a single-visit treatment using local anaesthaesia. We explored the entire root canal length using a size #15 hand instrument. The working length was determined using an apex locator, (Woodpex III, Guilin,China), then the length was also confirmed with radiographic imaging. Following the length determination, the root canal was shaped using Wave One (Densply Maillefer, York, USA) rotary instrument. The root canal was obturated using guttapercha and AH Plus sealer (Dentsply DeTrey GmbH, Konstanz, Germany) with lateral condensation technique. Glass ionomer cement (Fuji IX GP, GC Co., Tokyo, Japan) was then applied to seal off the access cavity, while the permanent restoration was done.
We prepared an intraoral mucoperiostal flap using an L-shaped incision and the surgery was carried out by using a surgical microscope (Aspheron, Schmidt and Bender Hungaria, Budapest, Hungary).
We opened up the buccal cortical bone using a surgical bur, thereafter we removed the lesion surrounding the apex of the root. The root apex was resected and a retrograde root canal filling was placed using mineral trioxid aggregate (MTA+, Cerkamed, Stalowa Wola, Poland).
The area of the lesion was augmented using gentamicin impregnated BoneAlbumin (OrthoSera Dental Zrt., Gyor, Hungary). We seeked to lower the chance of osteomyelitis occuring with the use of gentamicin. Sutures were then carefully placed to achieve tensionfree closure of the flap for optimal healing.
The 19-year-old Caucasian woman is the daughter of the first patient. CBCT showed a radiolucent lesion around the root of the lower right incisor (Fig. ). She is presently asymptomatic after a one-year follow-up, but she occasionally felt tension and moderate pain in the right side of the mandibular region eradiating to her ear, approximately 2 years earlier. The symptoms had no dental background, and ceased gradually.
Pulp tests and periapical pathology diagnoses were made by authors on teeth 33,32,41,43 with the use of percussion, palpation and sensibility test.
Panoramic radiograph and CBCT scans of the first patient showed radiolucent lesions located in the periapical bone, specifically on lower incisors and canines – in the premandibular, and in the right molar region of the mandible with radiopaque parts showing the lesions inside (Figs. and ). The affected teeth were asymptomatic, CBCT proved the presence of apical pathology. The buccal cortical involvement was discovered with the aid of CBCT, which also affected the treatment plan because 2D imaging methods provide no information on bucco-lingual dimension. Prior to the surgical intervention the use of CBCT was motivated by the fact that only 3D imaging could ascertain the precise shape, location and involvement of surrounding anatomical landmarks of the lesion.
Figure shows the postoperative condition (Fig. ). At the 6-months periapical follow-up, the bone healing is being processed (Fig. ). 18 months later it can be seen on the CT image that the buccal cortical bone surrounding the root of tooth 43 has regenerated (Fig. ). In the case of the second patient, there were no notable changes in the radiographic status 1 year later, and she has no complaint at present.
The removed tissue pieces contained both connective tissue and calcified areas. In the calcified area, beside the irregular trabecular – lamellar bony formations, oval and globular cementum-like structures were present. In the non-calcified area connective tissue was found and connective tissue filled out the centre of another bony sample as well. No elements or remnants of a capsule were visible. The histological diagnosis was cemento-osseous dysplasia (Fig. ). |
pmc-6617945-1 | A six year old Indian male born to non-consanguineous parents presented for routine outpatient review for monitoring of deficiency of adenosine deaminase 2 (DADA2). On systems review, he had a 24-h history of nausea and vomiting, followed by acute, moderate right-sided testicular pain, without fever.
His past medical history included an isolated episode of transient neutropenia as an infant, in association with hepatosplenomegaly which was considered at the time to be due to intercurrent viral infection. These features resolved completely, but at the age of 5 years he was referred to our centre with lower limb rash considered to be cutaneous PAN. Examination revealed typical livedo racemosa mainly involving the lower limbs, with no other abnormalities detected on full examination of all systems. Consequently, genetic screening of ADA2 and assessment of serum ADA2 enzyme activity was undertaken. These revealed homozygous c.139G > C mutation (p.G47R) of ADA2, and absent (i.e. undetectable) serum ADA2 enzyme activity, detected as part of routine care, as previously described by our group [], confirming the diagnosis of DADA2. His parents were heterozygous for the same mutation; a 3 year old female sibling was bi-allelic wild type for ADA2; and there was no family history of vasculitis, autoimmunity or immunodeficiency. Investigations performed prior to the acute presentation as part of general workup for DADA2 revealed: normal complete blood count (including normal differential white cell counts); normal renal and liver function; serum amyloid A (SAA) 8.2 mg/L (reference range [RR] < 10 mg/L); C-reactive protein (CRP) < 5 mg/L (RR < 20 mg/L); erythrocyte sedimentation rate (ESR) < 10 mm/hour (RR < 10 mm/hour); normal coagulation screen; negative viral hepatitis screen; normal immunoglobulin G, A, and M levels; negative screening for coeliac disease; negative autoantibody screening (Anti-nuclear antibodies (ANA) double-stranded deoxyribonucleic acid (DNA), ANCA (Anti-neutrophil cytoplasmic antibodies) rheumatoid factor, and thyroid peroxidase antibodies); and normal brain and brainstem magnetic resonance imaging, and magnetic resonance angiography. Since his only clinical feature was mild cutaneous involvement, and he was otherwise completely asymptomatic and with completely normal laboratory and imaging workup, he was kept under close surveillance without treatment, since it is known that DADA2 can vary considerably in clinical severity, with adult asymptomatic cases described previously [].
At the acute presentation, he was afebrile and haemodynamically stable. Systemic examination including full neurological examination was normal except for livedo racemosa on his lower limbs (Fig. ). He was also noted to have a mildly swollen and tender right testicle, but without typical clinical features of torsion. Repeat laboratory workup revealed a normal full blood count (haemoglobin 125 g/L; total white cell count 6.56 X109/L [RR 5–15]; platelets 306 X109/L [RR150–450]); normal liver, renal and coagulation profile. ESR was mildly elevated at 28 mm/hr. [RR < 10]; CRP of 17 mg/L [RR < 20]; and SAA 5 mg/L (RR < 10). Screening for antiphospholipid syndrome was negative for lupus anticoagulant (normal direct Russell Viper venom test; and negative anticardiolipin IgG autoantibodies). Ultrasound-scan (USS) of the testes showed significantly reduced perfusion of the right testes compared to the left (Fig. ), with no suspicion of torsion. He underwent an urgent surgical exploration and testicular biopsy. There was no evidence of testicular torsion found intraoperatively. Histology showed ischaemic seminiferous tubules with intervening haemorrhage and acute inflammatory cells which was consistent with an underlying vasculitic process, although no vessels were visible in the specimen to confirm that definitively (Fig. ). Post-operatively, he was pulsed with intravenous methyl-prednisolone (30 mg per kilogram for 3 consecutive days); followed by 2 mg per kilogram of daily oral prednisolone tapering off over 6 weeks; adalimumab 20 mg subcutaneously every 2 weeks (dose-banded, based on weight of 27.4Kg); and anti-aggregant dose of aspirin, 75 mg daily. He recovered well from the surgery and was discharged on post-operative day 3. Repeat USS at three weeks showed good perfusion of the testicular parenchyma on the right, with a small area of focal infarction. At last follow-up (11 months after the acute presentation) he remains well on 40 mg of adalimumab every 2 weeks (weight now 32 kg), and daily aspirin. Apart from the mild elevation of ESR detected on the day of presentation with testicular ischaemia, all blood tests including CRP and SAA have remained steadfastly within the reference range before, during, and after testicular infarction (Fig. ). |
pmc-6617947-1 | A 75-year-old female, with a past medical history of hypertension, developed progressive cerebellar ataxia a week after a respiratory viral infection. She reported dysarthria and gait unsteadiness. Her symptoms worsened for about 2 weeks and then remained stable. She was admitted to our service 1 year after symptoms onset, and she had been previously diagnosed with parainfectious cerebellar ataxia. She also reported a 6-month history of daily nausea and vomiting, weight loss of 66 pounds, and distal four limbs paresthesias.
Neurological examination revealed severe dysarthria, bilateral horizontal nystagmus, pronounced ataxia, and bilateral dysdiadochokinesia. Although she was unable to stand or walk unattended, there was no muscle weakness. She had generalized hypotonia. Deep tendon reflexes were normal in the upper limbs, and absent in the lower limbs. There was distal pinprick hypoesthesia in both upper and lower limbs, with reduced proprioception and vibration sense in the lower limbs. Cognition was preserved and there were no mood complaints. The patient denied bowel and bladder dysfunction. Blood exams were unremarkable. Electromyography revealed four limbs severe axonal sensitive polyneuropathy, with mild motor involvement. She was prescribed high-dose intravenous methylprednisolone 1 g qd for 3 days based on the hypothesis of an auto-immune condition, but there was no clinical improvement. Serological screening was requested and included protein electrophoresis, anti-tissue transglutaminase IgG and IgA, anti-gliadin IgA, IgG, IgM, and anti-GAD and the results were non-reactive. Paraneoplastic antibodies panel, which was also negative, comprised anti-HU, anti-YO, anti-RI, anti-amphiphysin, anti-CV2, anti-MA2, anti-MGT30, AGNA and anti-recoverin. Lumbar puncture was performed 1 year after symptoms onset, and spinal fluid analysis showed 4 cells, protein of 28 mg/dL and glucose of 70 mg/dL. Brain MRI (Fig. a) displayed cerebellar atrophy whereas the cerebral cortex had no abnormalities. Further tests were requested to evaluate the frequent vomiting, which persisted during the entire period of hospital stay. Abdominal MRI (Fig. b) showed a right exophytic heterogeneous renal mass. Radiology determined that it was category III in the Bosniak Classification for complex renal cysts, suggesting a high risk of malignancy []. The tumor was subsequently resected, and the histopathologic analysis revealed a clear cell renal carcinoma (Fig. c and d). The lesion had a cystic greater than nodular component, which is atypical. Predominantly cystic lesions suggest fast-growing tumors [].
On 6-month follow up after tumor extraction, there was complete resolution of gastrointestinal symptoms, and partial dysarthria improvement. Ataxia, however, remained stable. The patient was referred to the Movement Disorders Outpatient Clinic. There were no further therapeutic interventions after hospital discharge. |
pmc-6619383-1 | A 64 year old black male, retired forensic pathology auditor, was referred to urology clinic at CHBAH from medical oncology at the end of June 2018 with a prostate specific antigen (PSA) of 43.82 ng/dL. His hospital attendance had begun in October 2016 when he presented to the breast unit with a 2 years history of a painless progressively enlarging left breast lump with further investigations revealing carcinoma of the left breast. He was diabetic, hypertensive on treatment, and HIV negative. There was no known family history of breast, prostate or any other cancers. There was no history of undescended testes, testicular injury or mumps orchitis. A left modified radical mastectomy was performed in April 2017. He was previously a smoker, smoking 6 cigarettes per day for 40 years (12 pack-year), and quit in May 2017.
On physical examination, performed in June 2018, scars from left mastectomy and axillary lymph nodes dissection were noted. He had a normal right breast with no palpable lumps. Digital rectal examination revealed an approximately 30 g firm prostate with a nodule on the left lobe. The rest of the examination was unremarkable. |
pmc-6619383-2 | A 68 year old black male, retired teacher, was referred to urology clinic at CHBAH in May 2018 from medical oncology with a PSA of 113 ng/dL. He first presented in December 2016 to CHBAH breast unit with a 1 year history of a painless right breast lump with further investigations revealing carcinoma of the right breast. He reported that his father died of cancer, but does not know which cancer it was. He had no medical history, was HIV negative, and had no history of undescended testes, mumps orchitis or testicular injury. He was a heavy smoker who smoked 20 cigarettes per day for 40 years (40 pack-year) and quit in July 2016. Right mastectomy and axillary lymph nodes dissection was performed in April 2017.
On physical examination, scars from right mastectomy and axillary lymph nodes dissection were observed. He had a normal left breast with no palpable lumps. Digital rectal examination revealed an approximately 40 g hard nodular prostate. The rest of the examination was unremarkable. |
pmc-6619407-1 | An 80-year-old man was undergoing follow-up because he had undergone surgery for thyroid cancer 2 years previously in the Department of Head and Neck Surgery at our hospital. Dynamic contrast-enhanced computed tomography (CT) during follow-up for thyroid cancer revealed a mass measuring 40 mm in diameter with high attenuation, early-phase enhancement, washout during the late-phase in S3 and hypoplasia of the right hepatic lobe with the Chilaiditi sign, which is a segmental interposition of the colon between the liver and the diaphragm (Fig. ). Our preoperative diagnosis was HCC, and the clinical stage was T1bN0M0, or Stage IB, in terms of the Union for International Cancer Control classification (eighth edition).
Tests for hepatitis B virus surface antigen and antibodies against hepatitis C virus were negative. Liver function tests were graded as Child-Pugh class A, but the 15-min retention rate for indocyanine green (ICG15) was 19.0%. His serum proteins induced by the absence of vitamin K or antagonist-II measured 670 mAU/mL, and serum alpha-fetoprotein levels was within the normal range. The three-dimensional volume analyzer Synapse VincentTM (FUJI-FILM Co., Japan) revealed that the left lateral section exhibited compensatory hypertrophy with a volume of 520 ml volume, and 45.2% total liver volume.
Considering the small remnant right lobe and abnormal ICG15, we planned to perform laparoscopic anatomical S3 segmentectomy. The procedures were performed using a pressure-controlled carbon dioxide pneumoperitoneum, which was maintained below 12 mmHg. Intraoperative findings showed hypoplasia of the right hepatic lobe and hypertrophy of the left hepatic lobe (Fig. ). Intraoperative ultrasound (IOUS) was performed to confirm the location of the tumor and its relationship to the adjacent structures. The Glissonian pedicle to S3 was isolated with meticulous dissection and was then transected using the SigniaTM Stapling System and Endo GIATM Curved Tip Reload with Tri-StapleTM Technology 30 mm, Vascular Medium (Covidien, USA) (Fig. ). The ischemic margin of S3 was marked using electrocautery (Fig. ). Using the crush-clamp method with a harmonic scalpel (Ethicon, USA), the liver parenchyma was transected along the left hepatic vein (Fig. ). Pringle’s maneuver was performed by clamping the hepatoduodenal ligament using the tourniquet method for 15 min with following a 5-min release period, and a total of fourteen temporary clamps were performed during parenchymal resection. The resected specimens were removed in a retrieval bag through an umbilical port site. The resected specimen showed a 41-mm simple nodular type of HCC and a 5-mm tumor-free resection margin (Fig. ). Each port was placed as shown in Fig. .
The operative time was 549 min. The estimated intraoperative blood loss was 1000 ml, and a blood transfusion was not required. Postoperative pathological examination showed moderately differentiated HCC measuring 4.1 cm in diameter with a 5-mm tumor-free resection margin. The noncancerous portion of the resected liver confirmed a diagnosis of chronic hepatitis. The patient had a favorable clinical course without any complications, and he was discharged on postoperative day 6. There was no sign of recurrence 6 months after surgery. |
pmc-6619468-1 | A 61-year-old African American male with past medical history of hypertension and schizophrenia presented to the emergency room following 2 episodes of syncope.
He reported 3 month history of progressive neck mass. Physical examination revealed a temperature of 37.7 degrees, blood pressure of 130/87 mmHg, pulse of 92 bpm, and respiratory rate of 17 bpm. There was extremely large left sided neck mass extending into the left axilla and multiple palpable left and right cervical lymph nodes. The lungs were clear to auscultation, and there was a 2/6 systolic ejection murmur heard best at the bases. The abdomen was soft and nontender, without palpable organomegaly. There was a 5x2 cm right gluteal non-tender, non-mobile mass with central ulceration and also a 2x2 cm spherical mass at the left upper back with small central ulceration. There was 2+ pitting edema of the lower extremities bilaterally. There was differential swelling of left upper extremity. Electrocardiogram showed normal sinus rhythm, left axis deviation, low voltage and mild t wave inversion in V2–V4 ().
Initial CT scan of the abdomen and pelvis showed diffuse metastatic disease of the visualized lower chest, abdomen and pelvis including superficial soft tissues, left kidney, and probable right kidney. There was diffuse confluent adenopathy and massive right inguinal lymphadenopathy, along with pronounced diffuse anasarca. There are multiple renal masses. There are solid masses arising off of the lateral aspect of the left kidney involving the upper, middle and lower lobe (). The left kidney mass was described as an exophytic lesion. There was a mass along the anterior aspect of the heart that measures approximately 5 cm but incompletely visualized. CT head was negative.
Transthoracic echocardiogram revealed a large mass measuring 4.8 cm x 3.0 cm extending from the apex to the mid RV cavity, and extending into the RV outflow tract stopping just short of the pulmonic valve (). There was deformation of the RV free wall suggesting invasion of the myocardial wall and a malignant growth. There was mild RV enlargement, with normal function of the segments not involved in mass. There RA was mildly dilated with no mass seen, and there was no evidence of thrombus in the IVC. There was a small pericardial effusion without echocardiographic evidence of tamponade. A dedicated CT of the thorax revealed a mildly enlarged heart, and a filling defect in the RV measuring 6 cm extending to the apex and suspicious for malignancy ().
A core biopsy of the right superficial gluteal mass revealed a tumor arranged in solid nests having abundant eosinophilic cytoplasm, central nucleus and conspicuous nucleoli, with areas of coagulative tumor necrosis, and individual tumor cell exhibiting high-grade atypia with pleomorphism ().
On immunohistochemistry, the tumor cells expressed pacytokeratin, PAX 8, vimentin and CD 10 (weakly). The tumor cells are negative for S 100, Melan-A and RCC. Immunostains for CD 117 and CK 7 were performed, however were uninterpretable due to tissue depletion. Morphology and immunohistochemical profile favor a metastatic poorly differentiated carcinoma of likely renal origin, with a possibility of an unclassified RCC. Oncology was consulted and they suggested a diffuse metastatic malignancy of primary renal origin with poor prognosis. Oncology advised that the patient should follow up in outpatient cancer clinic. Due to extent and burden of metastasis, patient and family members agreed to conservative management and patient was placed in hospice and comfort care with no further aggressive management. He was discharged from the hospital to hospice and to follow-up with the cancer clinic, although there were no records that he kept the appointments and he was lost to follow-up. |
pmc-6619473-1 | The patient is a 19 year-old boy with normal body mass index (BMI) and normal blood pressure. He was born and has lived in Tehran city (Iran) and for first the time since March 2017, he suffered from periodic febrile attacks (39-40 °C). During these fever attacks, the patient had many aphthous ulcers in his mouth, swollen glands in his neck and sore in the back of the throat. The fever periods in this patient lasted about 7 days, and after the disease went down, the next attack occurred about 45 days later, the patient also had a feeling of weakness, severe fatigue in the limbs, and a slight abdominal pain in LUQ area during the time of the attacks.
For first time in July 2017, the patient was admitted to the hospital during a severe fever attack due to weakness, lethargy, and high temperature. Doctors noticed the high fever (39.8 °C), severe aphthous month ulcers inflammation in throat, and swollen lymph nodes on the neck during physical examination. Furthermore, after examining the patient's abdomen, doctors found splenomegaly in this patient.
After these examinations, during the hospitalization in July 2017, doctors requested some laboratory tests to determine the cause of the disease. These tests include: urine culture (UC), blood culture (BC), stool exam (SE), stool culture (SC), human immunodeficiency virus antibody (HIV Ab), hepatitis B antigen (HBS Ag), hepatitis C virus antibody (HCV Ab), rheumatoid factor (RF), erythrocyte sedimentation rate (ESR), peripheral blood smear (PBS), malaria, borrelia, fluorescent antinuclear antibody (FANA), anti-cyclic citrullinated peptide (anti CCP), which the results of all these tests were negative except ESR (numerical value of ESR was 31), and the patient was given an abdominal ultrasound examination to determine the size of the spleen. It was larger than normal, and was determined to be 32 × 140 mm (splenomegaly) ().
Following the rejection of the causes of other diseases, according to the patient's symptoms, the diagnosis of adult onset PFAPA was given to the patient and the patient was cured by slow intravenous injection of one dose of long-acting betamethasone ampoule (1 ml) at the onset of the fever attacks. Disease remission after injection of this medicine at the onset of each attack rapidly after about 2-3 hours, and all symptoms included oral ulcers, inflammation of the throat and swollen neck lymph nodes on the neck were completely resolved. In October 2017, the patient was treated with tab Montelukast sodium 10 mg once a day. After taking this medicine, the febrile attack periods occurred once every 55-65 days, and the duration of remission increased. The laboratory tests were taken in July 2017 during the patients fever attack when patient was admitted in the hospital. |
pmc-6619481-1 | A 57-year-old man with the history of left atrial (LA) myxoma presented to cardiology clinic every 6-month follow-up visit. He underwent LV myxoma resection 2 years ago. He had palpitation, but did not suffer from chest pain or dyspnea. Past medical history was positive for smoking with no history of chest trauma. On physical exam, the patient was awake; he had a regular S1 S2 with a S4 gallop, with normal breathing sounds all over the lungs. Initial EKG was normal without ischemic changes. The chest radiography showed global enlargement of the cardiac area and distributed broncovascular view. Transthoracic echocardiogram (TTE) was performed, revealing a normal right and left ventricular size and function (LVEF= 55-60%), and a large non-homogenous mass with lucent part within it suggestive of infarct part of tumor attached to interatrial septum (6×4cmm, mass area=13cm2) (), most probably myxoma, severe eccentric MR due to prolaptic P2 scallop, moderate TR, RVSP=70 mmHg, severe PH, and mild PI.
These findings were confirmed by trans-esophageal echocardiography (TEE). The right atrium was normal and on Doppler study, significant diastolic restriction to the filling flows of both ventricles was not found. Pulmonary CT angiography with 64 multi-slice CT scan and VRT and MIP reconstruction revealed a soft tissue within LA with 78 mm diameter with LA expansion and pressure effect on neighboring chambers. There was single lymph node in thorax inlet (31 mm). There was not pulmonary, lobar and segmental main artery feeling defect. Laboratory examinations were normal except for high level of serum pro-BNP (33964 pg/ml).
The patient underwent surgical resection of tumor. Tumor resection was performed with the patient under cardiac arrest with cardiopulmonary bypass. Pathology results showed proliferation of neoplastic spindle- shaped fibroblastic cells having fascicular patterns or arranged haphazardly with scattered multinucleated giant cells. The cells have pink cytoplasms and atypical fusiform nuclei (); all indicative of malignant fibrous histiocytoma (MFH). After operation and moving to ICU, the patient was complicated by high grade fever, pneumonia, increasing BUN and creatinine and finally, acute renal failure. Unfortunately the patient expired 3 days after the operation with ARF and respiratory failure associated with pseudomonas pneumonia. |
pmc-6619489-1 | A 4-year-old boy presented to the neurosurgical department with intense headaches, vomiting, ptosis, and only light perception in the left eye following a 12-month history of abdominal pain and headaches. Acanthosis nigricans, multiple café-au-lait spots, excessive sweating, and dental malocclusion were noted. A clinical diagnosis of pituitary apoplexy was made. He had tall stature [height +2.5 SD score (SDS); midparental height +0.3 SDS] developing over the previous year (growth velocity, 12.8 cm/y; 50th percentile = 7 cm/y). The child was irritable, aggressive, and hyperkinetic with poor attention span. His serum IGF-1 level was 5× the upper limit of normal (ULN) and his GH level was 1200 ng/mL, whereas his prolactin, free T4, TSH, 9 am cortisol, hemoglobin A1c, calcium, and electrolyte levels were within the normal range. MRI showed a 43 × 24 × 35‒mm tumor with suprasellar and left cavernous extension (Knosp grade 4) and evidence of acute bleeding in the tumor (). Craniospinal MRI, whole body gallium-68 DOTATATE scan, and cerebrospinal fluid examination for tumor cells excluded systemic dissemination of the disease. There was no known family history of pituitary adenoma or gigantism (), and family members were well. His paternal grandfather had a history of hyperparathyroidism due to a parathyroid adenoma. Genetic analysis revealed a previously repeatedly described () germline nonsense AIP mutation (c.241C>T; p.Arg81Ter) () in the proband and three family members with normal clinical, biochemical, and MRI assessments. Whole-exome sequencing on peripheral and tumor DNA revealed that 1293 variants of the 1311 detected heterozygous germline chromosome 11 variants were hemizygous (suggesting loss of heterozygosity) in tumor DNA, strongly suggesting loss of the entire maternal chromosome 11 (). Somatic mutations in the tumor were analyzed using VarScan (v2.6.x) and MuTect (v1.1.4), whereas germline sequence variations were called using GATK’s UnifiedGenotyper. The effect of variants on protein function was predicted using SIFT and PolyPhen2 scores, and annotation was performed using ANNOVAR (release: March 2015) and SnpEff (v4.1). OMIM, ClinVar, and COSMIC databases were used for annotation of identified variants. Minor allele frequencies were obtained from the dbSNP (build 142), 1000 Genomes, and ExAC databases. |
pmc-6620073-1 | Case 1: a 63-year-old man with a history of type 2 diabetes and arterial hypertension, was referred to our department for a gradually progressive dysphagia involving solid food for seven months, associated with neck pain. There were no other complaints, especially dyspnea, voice changes or weight loss. Physical examination and laboratory findings were unremarkable. The neurological exam was found to be normal. Lateral cervical plain radiographs showed ossification along the anterior aspect of the cervical spine from C2-C7 which was more prominent at C5-C6. A barium swallow study demonstrated compression of the oesophagus at the level of C5 with delayed deglutition . We discharged the patient with advice to take semi-solid food in small quantity and at frequent intervals. |
pmc-6620073-2 | Case 2: we report a case of an 80-year-old man who presented to our department with 8 months of progressive dysphagia associated with foreign body sensation. There was neither pain during deglutition nor voice change. On examination, no obvious pathology was noticed in oropharynx. There was no palpable mass in his neck. Indirect laryngoscopy revealed a protrusion in the posterior hypo pharyngeal wall, whereas the endolarynx exam was unremarkable with normal vocal cord mobility. The neurological examination was normal. Laboratory results weren't significant. On CT cervical spine, there was extensive flowing anterior osteophytes from the level of C5 to D1. Level of compression on swallow studies was C5-C6 . Surgery proposal has been rejected by the patient and thus he has been discharged with anti-inflammatory drugs and was asked to avoid solid food. |
pmc-6620225-1 | A 2-day-old boy born at 40 weeks of gestation was admitted to our hospital due to repeated vomiting and abdominal distension. His birth weight was 2850 g. A blood test at admission revealed an elevation of the patient’s WBC count (26600/μL) and CRP (7.4 mg/dL) and lactate (18 mg/mL) levels. An X-ray photography showed dilatation from the ascending colon to the transverse colon. At this point, we doubted Hirschsprung’s disease-associated enterocolitis, and we started intravenous antibiotics therapy. Gastrografin contrast enema on the same day showed a caliber change in the transverse colon (Fig. ). The 8.0 Fr ED tube was transanally indwelled into the hepatic flexure for continuous colonic decompression and repeated colonic irrigation was started. However, the following night, the patient’s condition showed an acute deterioration with marked abdominal distention and tachypnea. A blood test suggested inflammation with marked elevation of the patient’s CRP (17.9 mg/dL) and lactate (32 mg/dL) levels and acidemia (pH 7.20, BE − 5.7 mmol/L). We considered that his enterocolitis could not be controlled by antibiotics with decompression and irrigation via the transanal tube. The patient was brought to the operating theater for exploratory laparotomy.
During laparotomy, perforation at the lateral cecal wall was detected with panperitoneal purulent ascites (Fig. ). The tip of the indwelling tube was felt in the right transverse colon; thus, iatrogenic penetration by the catheter could be ruled out. A caliber change of the transition segment was observed at the mid-transverse colon. To minimize operative invasiveness as much as possible, we only performed leveling biopsies at the perforation site and the narrow segment of the left transverse colon. The perforated site of the cecal wall was exteriorized and sutured with minimal trimming as a tangential stoma (Fig. ). Massive peritoneal lavage and silicon tube drainage were added. A few days later, a pathological examination revealed that the cecum specimen contained ganglion cells, while the left transverse colon did not.
The tangential cecostomy diverted the fecal stream constantly and the patient recovered well. The exteriorized cecal stoma shrank and transformed into a skin-level, cutaneous cecostomy, but good colonic decompression and diversion was maintained as a blowhole. On the 10th day after surgery, the transanal tube was re-indwelled for the secure management of aganglionic bowel (Fig. ), and the patient continued usual oral feeding and showed body weight gain.
A definitive operation was performed at 47 days of age by the transverse incision of the first laparotomy with transanal approach. At the operation, there was the adhesion of peritonitis, but the cecostomy was simply closed by slight trimming without resection or anastomosis of the cecum. As a result, the ileocecal valve was preserved. The ganglionic ascending colon, confirmed by intraoperative histology, was pulled through and anastomosed to the anus by the Soave-Denda procedure. The postoperative course was unremarkable and the patient was discharged on the 60th day of life. |
pmc-6620227-1 | A 40-year-old male presented with vomiting and abdominal pain. Computed tomography (CT) revealed a cystic mass in the upper abdomen and the patient was subsequently referred to the Tokushima University. Laboratory tests were as follows: leukocyte count 7400/μl; hemoglobin 8.6 g/dl; albumin 4.0 g/dl; amylase 91 IU/l; total bilirubin 0.3 mg/dl; carcinoembryonic antigen (CEA) 1.5 ng/ml; carbohydrate antigen 19-9 (CA19-9) 8 U/mL; DUPAN-II < 25 U/ml; and S-pancreas-1 antigen (Span-1) 7 U/ml. The CT in the axial view revealed a 6 cm low-density mass in the pylorus of the stomach and a coronal view confirmed gastroduodenal invagination (Fig. a, b). Magnetic resonance imaging (MRI) revealed a mass lesion: T1-weighted image (WI) low, T2 WI high, intermediate-high apparent diffusion coefficient (ADC) value, and diffusion-weighted image (DWI) high (Fig. ). The gastric fiber showed that the pedunculated mass originated from the stomach and the cushion sign was positive (Fig. ). The tumor was expected to be difficult to resect by endoscopy because of its size and the presence of gastroduodenal invagination. We did not perform ultrasonography (US).
According to these findings, GIST, duplication cyst, malignant lymphoma, and gastric polyp could be stated as a differential diagnosis (Table ). In particular, MRI finding suggested duplication cyst but gastric duplication has not reported to be accompanied by gastroduodenum invagination. Therefore, the preoperative diagnosis was a SM cystic tumor originating from the stomach with gastroduodenal invagination. An open distal gastrectomy was performed because of its invagination at which time the mass was found in the duodenum 3rd portion and invaginated to the duodenum. It was moved to the stomach and a distal gastrectomy with B-1 reconstruction was performed (Fig. ). It was unclear whether there was malignant finding.
The resected specimen showed a solid, edematous nodule with small glands originating from the gastric antrum with some of the small glands and the stroma in the SM layer. (Fig. ). Pathologically, many glands and stroma were found in the SM layer some of these glands were dilated (Fig. a, b). Edematous stroma and inflammatory cells were found in SM layer and smooth muscle bundles were found around the glands (Fig. c, d). At first, it was diagnosed as SM heterotopic glands of the stomach. However, it was difficult to differentiate from other SM cysts. Immuno-histochemical analysis was performed, which showed positivity on the grands’ membranes and cytoplasm (MUC)1 and negative on MUC2, MUC5AC, and MUC6, which suggested that the grands originated from pancreatic ducts (Fig. ). This tumor lacked pancreatic acini but the above results of immuno-staining revealed that these atypical tissues were pancreatic ducts and the tumor was HP. The postoperative course was uneventful and the patient was discharged 12 days after surgery and has remained well 12 months after surgery. |
pmc-6620230-1 | We report a case of a 37-year-old male with PWS who suffered from ESKD. At 3 years of age, he started overeating and developed obesity. At 5 years of age, PWS was suspected based on the patient’s body type, facial expression, and overeating. Dietary restriction was instructed; however, at 17 years of age, he was diagnosed with type 2 DM (T2DM). At 30 years of age, a diagnosis of PWS was confirmed by genetic testing. At age 32 years, he suffered from nephrotic syndrome, and diabetic retinopathy was diagnosed at the same time.
By June 2015, renal function had continuously deteriorated and his serum creatinine reached 8.9 mg/dL (eGFR at 5.0 mL/min/1.73 m2). Therefore, the patient was admitted to the hospital for initiating RRT. At admission, physical examination revealed: 150.8 cm height, 80.3 kg BW, BP 112/64 mmHg, HR 110/min, SO2 99% (room air). He showed systemic edema and urine volume decreased to 800 mL/24 h. The patient’s IQ was inferred 40–60. Blood chemistry showed: TP 6.4 g/dL, albumin 2.4 g/dL, CRP 10.9 mg/dL, BUN 83 mg/dL, UA 6.4 mg/dL, Na 136 mEq/L, K 5.4 mEq/L, Cl 110 mEq/L, Ca 7.1 mg/dL, P 12.7 mg/dL and HCO3− 14.7 mEq/L. Complete blood count was: WBC 16,770/μL, RBC 354 × 104/μl, Hgb 8.1 g/dL, Ht 27.6%, MCV 78 fl, MCH 22.9 pg, MCHC 29.3% and Plt 54.2 × 104/μl. Urinalysis showed massive proteinuria (4839 mg/24 h) without hematuria or pyuria. He had been receiving insulin injection 4 times a day. Random blood glucose level was 156 mg/dL and HbA1c was 6.8%.
After admission, restricted fluid intake, nutritional management, and temporary HD was performed 6 times for 2 weeks since massive edema prevented insertion of PD catheter. The reasons for choosing PD were as follows: vessels in his both forearms looked premature for creating A-V fistula at that time, suspecting intolerance in hemodialysis session for long hours and difficult cessation of fluid and food intake which are necessary for hemodialysis. Negative aspect of PD was specifically considered as a difficulty in maintaining sanitary in inlet of PD catheter. In either modality, family burden for supporting his dialysis was also considered.
Substantially his body weight decreased to 64 kg (− 16 kg from admission; BMI 28.4 kg/m2) and a catheter for PD was inserted using the non-stylet method under general anesthesia combined with epidural anesthesia at the 14th day of admission. We selected the JBS-2 semi-long PD Catheter with the exit site placed in the left upper abdomen (Fig. ). The catheter position was not ideally located initially but it functioned well for the following PD session after the surgery (Fig. ). From the third postoperative day, nocturnal intermittent PD (NIPD) was started. Since he could not sufficiently understand the procedure of PD, instructions for PD as well as insulin self-injection were provided to his father. He was discharged at the day 35 of hospitalization.
At the 2nd, 5th, 7th, and 13th month after NIPD introduction, a subcutaneous tunnel infection occurred (Fig. ). Since additional antibiotic therapy could not terminate infection, he underwent subcutaneous pathway diversion and PD catheter replacement for three times consequently. However, that was the last infection episode and infection-free PD was observed until the present time for next 27 months. With regard to the dialysis modality, NIPD was chosen first because he desired to continue his daytime job for handicapped person. At the 7th month after NIPD introduction, the treatment was switched to continuous cycling PD (CCPD) and 7.5% icodextrin solution (Extraneal™, Baxter, Tokyo, Japan) was added daytime because urine output gradually decreased, and ultrafiltration volume became insufficient. At the 10th month after NIPD introduction, glucose concentration in peritoneal dialysate increased from 1.5 to 2.5% (Reguneal™, Baxter, Tokyo, Japan). “Hybrid dialysis”, which combined daily PD with once-a-week HD, was started by creating A-V fistula at the 16th month after NIPD introduction. Owing to this “hybrid dialysis”, adequate ultrafiltration volume was maintained for following 17 months. Dialysis efficiency has been checked by blood tests and chest X-ray once a month and revealed adequate dialysis without major problems; accordingly, BUN level was below 50 mg/dL and serum potassium level below 5 mEq/L. Blood sugar was well maintained by daily intensive insulin therapy with oral dulaglutide initially and then this regimen was successfully replaced with once-weekly GLP-1 agonist associated with once a day ultralong-acting insulin finally. HbA1c had been maintained under 7% since NIPD introduction. His maximum body weight without overhydration reached to 71 kg (BMI 31.6 kg/m2) during this period. Finally, he lost his A-V fistula twice and returned to PD (CCPD) alone at the 38th month of NIPD introduction because of difficulty in creating another vascular access. For evaluating efficacy of PD, serum β2-microglobulin level was monitored every 2 months and revealed between 34 and 40 mg/L during the latest CCPD alone period. |
pmc-6620246-1 | A 67-year-old woman was admitted to our hospital, because she was suffering from upper abdominal discomfort. She was diagnosed as having intrahepatic cholangiocarcinoma. From an enhanced multidetector-row computer tomography (CT) examination, a variation of the hepatic artery was detected (Fig. ). Using three-dimensional reconstruction software (Hisense computer-assisted surgery system, Qingdao, China), it was demonstrated that an aRHA arose from the SMA, ran through the right posterior side of the portal vein (PV), wrapped round from the back to the front of the right branch of the PV, and had distributed into the right anterior liver (RAL) to provide the blood supplies of segment V and VIII. The patient’s accessory left hepatic artery (aLHA) was shown to originate from the left gastric artery (Fig. ). |
pmc-6620271-1 | Case 4 occurred in a 19 year old male in early September 2017, one month after case 3. The patient was a former student at the college and lived nearby. In this case, the patient initially presented with vomiting, rigors, and drowsiness before being admitted to ICU and given antibiotic treatment. The patient recovered without sequelae. No meningococcal isolate was obtained from samples taken (blood and CSF) and laboratory confirmation was by PCR only. All clinical specimens were PCR positive for group B and non-culture fHbp and PorA molecular typing revealed profiles matching the other cases (fHbp 1.4 and PorA P1.22,14,36). All close contacts were offered antibiotic chemoprophylaxis according to national guidance. |
pmc-6620565-1 | A 44-year-old Japanese male, an office worker, was transported to our emergency department with a complaint of temporary loss of consciousness. He had experienced fatigue for 3 years and had fallen easily in his daily life starting 2 months before admission. He was feverish and had a cough and phlegm for several days before admission. On the way to work, he felt drowsy and fell down the stairs of the train station, necessitating transport to our hospital by ambulance. The peripheral blood analysis noted mild elevation of white blood cells. The blood chemistry test disclosed mild elevation of C-reactive protein and mild liver dysfunction (). He was thin, i.e., his height was 174 cm and he weighed 52 kg (). Chest computed tomography (CT) showed severe infiltration in the upper posterior fields of both lungs as well as food debris in the esophagus. He was diagnosed as having aspiration pneumonia. His past medical history included diabetes mellitus that had been treated by a local doctor; glycated hemoglobin was approximately 7%. He had experienced ileus six times since age 30 years. He was not married. His father had died of dilated cardiomyopathy at the age of 70 and had also been thin. On the other hand, his mother was healthy but his maternal uncle was diabetic. His younger sister (Case 2) also had mild muscle weakness of the four extremities. Aspiration pneumonia was treated by intravenous administration of antibiotics under conditions of food-take restriction combined with temporary insulin infusion, and the respiratory symptoms subsided. On the neurological examinations after improvement of pneumonia, he presented with typical clinical manifestations of DM1 (), such as forehead balding, hatchet face with bilateral ptosis, nasal speech, mild muscle weakness of the four extremities, handgrip myotonia, and diffuse muscle atrophy. Electromyography performed to test the biceps brachii muscle and femoral quadriceps muscle on the left side revealed frequent myotonic discharges. Because DM1 was strongly suspected, we recommended that, after providing informed consent during genetic counseling, he undergo genetic testing for DM1 together with his younger sister. The number of CTG repeats in the DMPK gene was abnormally expanded to about 600 repeats in the elder brother and about 900 repeats in the younger sister, in contrast to those of healthy individuals who have 5 to 37 repeats (), thereby confirming the diagnosis of DM1 in these siblings (). |
pmc-6620565-2 | His younger sister was a 41-year-old woman, a housewife. She was obese according to the Japanese criteria (), i.e., she was 156 cm in height, weighing 69.6 kg (102 cm waist circumference and a 164.2 cm2 visceral fat area calculated employing abdominal CT). Slightly impaired fasting glucose levels had been pointed out on her medical check-ups since 3 years earlier, but she had never consulted a doctor. She had noted repeated falls and injuries for the past 5–6 years. She had married at the age of 37 and had undergone infertility treatment. When she was admitted for detailed examination to our hospital, she showed distal muscle weakness of the four extremities as described above, handgrip myotonia, and distal muscle atrophy, which were consistent with the characteristics of DM1. The laboratory data showed elevated fasting glucose with dyslipidemia, which met the Japanese criteria for metabolic syndrome (MetS) () (), and an oral glucose tolerance test using 75 gram glucose showed impaired glucose tolerance (IGT) (), followed by starting treatment with diet and exercise. Based on the presence of MetS, a sleep study was conducted using an apnomonitor Type 4 (SAS-2100, NIHON KOHDEN, Tokyo, Japan) () (, , ). The apnea-hypopnea index (AHI) was defined as the average number of apnea and hypopnea episodes per hour of recording time in bed. The younger sister's AHI was high at 55.9, which suggested that she had severe SAS, as defined by an AHI of 30 or more, though no snoring, apneic episodes, nocturnal dyspnea or signs of daytime somnolence were observed (, ). Her arterial blood gas (ABG) showed hypoxia accompanied by hypercapnia and her lung function test, using spirometry (CHESTAC-8900, Chest, Tokyo, Japan), revealed a decreased percent predicted vital capacity (VC) of 67.9% while Forced Expiratory Volume in 1 s (FEV1)/ Forced Vital Capacity (FVC) (Gaensler index) was adequate at 87.9% () ().
We then also analyzed the respiratory function of the elder brother (Case 1), although, like his sister, he had not complained of voluntary symptoms suggestive of SAS. His AHI examined using an apnomonitor Type 4 was 55.1 and his ABG showed CO2 retention without hypoxemia (). His percent predicted VC was decreased, at 51.9%, while the Gaensler index was sufficient at 93.9%, similar to his sister's values (). His aspiration pneumonia was regarded as possibly being due to DM1, which can cause expiratory muscle weakness. The indications for non-invasive positive pressure ventilation (NPPV) were assessed by an experienced pulmonologist. Based on chronic alveolar hypoventilation (patients with decreased percent predicted VC are at high risk), diurnal hypercapnia (PaCO2 ≥ 45 mmHg) according to the ABG, evidence of nocturnal hypoventilation on nocturnal pulse-oximetry, defined as SpO2 < 92% more than 4 times during the entire sleep time or >4% of the entire sleep time as well as AHI≥10 events/h, these two siblings were started on NPPV. The NPPV consisted of 6 cmH2O of inspiratory positive airway pressure, 4 cmH2O of expiratory positive airway pressure and a 12 bpm back-up rate in spontaneous/timed mode during sleep (, , –). These two siblings have been followed at outpatient care by the same pulmonologist and there has been no apparent worsening of symptoms since starting NPPV therapy. Both patients have shown good compliance. The ABG of the brother revealed slight elevation of PaCO2, that is, pH 7.4, PaCO2 51.5 mmHg, PaO2 76.9 mmHg, HC 28.5 mmol/l, BE 2.1 mmol/l, and SaO2 95%. Because the sister's arteries are very thin, making it difficult for us to determine her ABG, spirometry was performed 3 months after initiating NPPV therapy and revealed almost no interval changes as compared to the baseline data before starting NPPV, with the direct value of VC being 1.9 L, VC 68.3% pred, direct value of FVC 1.84 L, FVC 66.2% pred, direct value of FEV1 1.52 L, FEV1 59.4% pred, and FEV1% (Gaensler index; FEV1/FVC) 101.8%.
As to other complications, the brother showed negative results on brain magnetic resonance imaging (MRI), echocardiography, abdominal ultrasound and, except for the diabetes, on endocrinologic examinations (). The sister underwent brain MRI which showed localized white matter hyperintense lesions in the right temporal lobe, a common finding in DM1 (), which may have accounted for her hypoventilation (). Other studies including echocardiography, abdominal ultrasound, and endocrinological examinations yielded essentially normal results except for cataracts and IGT. |
pmc-6620810-1 | A 79-year old lady presented with a lump in her left thumb, which had been present for a few months. On examination, it was a small 1 by 1 cm lump proximal to the base of the nail, over the dorsal aspect of the distal phalanx of the left thumb. It had been slowly growing with no history of discharge or infection (). She was referred as a possible differential diagnosis of mucoid cyst, epidermoid cysts or squamous cell carcinoma. An X-ray of the involved finger was also done, which did not show any bony spur (). We did an excision of the lesion under local anesthesia. The procedure was uneventful and the lesion could be easily dissected from the surrounding tissue. The histopathology evaluation was suggestive of a cystic lesion lined by squamous epithelium and suggestive of an inflamed pilar cyst. There was no recurrence at her 3 month follow up and the operative site had healed well. |
pmc-6620811-1 | A 40 years old female was presented with a chief complaint of nasal regurgitation, pain, and halitosis. Relevant dental history was taken, which revealed extraction of maxillary right second molar, 7 days back. Clinical investigation and mirror fog test were done to confirm the oroantral communication (). The patient was made aware of condition and treatment plan and all risk of surgery and was started on preoperative medications. Surgery was planned for the next day. Under local anesthesia, buccal advancement flap with a trapezoidal shape and two vertical releasing incisions were elevated.
The periosteal scoring method was used to make flap tension free at closure site, which was crucial into this type of procedure leading to a higher success ratio of surgery. The socket was irrigated with 0.12% chlorhexidine gluconate solution and socket lining was removed fresh bleeding induced into the socket. The palatal flap was also raised to suture buccal flap, easily. The buccal flap was sutured using 3.0 silk over a socket to palatal flap (). Postoperative instructions and medication were advised and scheduled for suture removal after 10 days. Healing was as desired and uneventful with no nasal regurgitation and pain (). |
pmc-6620833-1 | A 9-year-old girl was admitted at our paediatric emergency department for vaginal bleeding spanning 10 days and severe anemia. She was initially treated by a general practitioner with oral antibiotics as a vulvovaginitis. Abdominal and pelvic ultrasound scan was normal. But, due to the persistence of vaginal bleeding and worsening of her condition, she was referred to the paediatric emergency department. No history of trauma and no evidence of abuse were reported by the parents. She had no bleeding from other areas of the body. She was acutely sick and had pale teguments. Her physical examination was as follows: temperature: 36,5°C, thready pulse and tachycardia (pulse rate:120/min), blood pressure: 70/40 in millimeters of mercury, respiratory rate: 28 breaths per minute, and oxygen saturation: 90% in room air. Full Blood Count showed profound anemia (hemoglobin at 4 g/dl). Biochemistry and coagulation parameters were normal. The child was managed as a hypovolemic shock and resuscitated with intravenous fluids and urgent blood transfusion. Gynecological examination found a live leech at the vulva on the fourchette; its extraction was facilitated by applying a saline solution (). We interrogated the mother for a second time, and she revealed that the symptomatology appeared after a long day of swimming in a pond. The evolution saw a spectacular improvement and a stop to the bleeding. The child was clinically stable and discharged home the next day with ambulatory treatment. |
pmc-6620838-1 | An 88-year-old male with dementia, dyslipidemia, and status after cochlear implantation presented to a community hospital after new onset gait instability. The patient was on a road trip from Wisconsin when he developed an inability to walk at dinner after arriving in the Coachella Valley, approximately 100 miles east of Los Angeles. The patient was unable to ambulate and experienced worsening instability in his trunk. History was negative for atrial fibrillation, transient ischemic attacks, and strokes. The patient's only medications were an 81 mg daily aspirin and simvastatin. Given his progressive truncal ataxia, the patient was admitted for suspected cerebellar stroke.
On exam, the patient was alert and oriented to person, place, and time without sensory or cranial nerve deficits. Strength was 5/5 in all limbs. Exam was remarkable for ataxia of the trunk with unstable gait. Patient was unable to perform tandem gait. Laboratory findings for complete metabolic panel and complete blood count were unremarkable. A noncontrast CT was done, revealing stable age-related atrophy without evidence of acute ischemia or hemorrhage. Complete evaluation for cerebellar stroke was limited, as MRI could not be done due to cochlear implantation. The patient was then admitted for further management and workup of ataxia given concern for stroke.
Two days into admission, a tick with surrounding ecchymosis was found on the patient's left lateral chest wall during bathing (Figures and ). Upon further questioning, he reported hotel stays and visited national parks throughout his travels. He denied animal exposures, camping, and use of insect repellant. Following tick removal, truncal ataxia dramatically improved. The patient worked with physical therapy for an additional two days and was then safely discharged without ataxia. |
pmc-6620850-1 | A 42-year-old African-American female with a past medical history significant for ductal carcinoma in situ diagnosed five years ago, treated with radiation and lumpectomy, presented with a two months history of progressively worsening left-sided abdominal pain and distension. Lab work showed anemia (hemoglobin of 7.3) and thrombocytopenia (platelets of 126) with leukocytosis (WB of 16.5). Due to concern for hemophagocytic lymphohistiocytosis (HLH), additional labs were drawn; her fibrinogen was 339 mg/dL, triglycerides 217 mg/dL, and ferritin 550 ng/mL, which overall did not support the diagnosis. Imaging studies showed marked splenomegaly and mild hepatomegaly. PET scan showed increased splenic and pharyngeal lymph node uptake ().
Her liver biopsy showed infiltration by abnormal lymphocytes (Figures and ) as did her bone marrow biopsy. The flow cytometry study performed on bone marrow aspirate demonstrated 53% abnormal lymphocytes with a phenotype of CD2+ CD3− CD7+ CD5− CD4− CD8− CD56+ CD57− CD16− TCRa/b− TCRg/d−, which was interpreted as NK cell population. Immunohistochemistery for CD3 performed on live core biopsy confirmed the abnormal lymphocytes are CD3 negative. Notwithstanding these abnormal immunophenotypes, further workup including Epstein–Barr virus (EBV) and T-cell receptor (TCR) gene rearrangement studies demonstrated negative EBV infection and positive monoclonal TCR gene rearrangement, which support the diagnosis of stage IV HSTCL with liver and bone marrow involvement. In order to differentiate between NK and T-cell lymphoma, TCR rearrangement studies are helpful like in this case as they can help finalize the diagnosis as HSTCL. The lack of evidence of any EBV infection in her biopsies or her serum DNA was not supportive of involvement by NK-cell leukemia.
Given her symptoms, she was started on prednisone for 1-2 weeks prior to completing 6 cycles of DA-EPOCH administered at dose level +1 that could not be escalated due to cytopenia. After 4 cycles, her interim PET scan showed diffuse hypermetabolic activity of the axial and appendicular skeleton, attributed to super expansion of the bone marrow secondary to chemotherapy. There was no suspicious lymphadenopathy of the chest, abdomen, and pelvis. She tolerated the cycles fairly well, complicated by one inpatient hospitalization for neutropenic fever with negative workup. The goal was to complete the 6 cycles of DA-EPOCH with positive response to allow for allogeneic HSCT if chemosensitive, ideally in CR1.
Unfortunately, her PET scan 4 weeks after her 6th cycle of DA-EPOCH showed she was primary refractory. Imaging also showed a new splenic infarct with worsening splenomegaly (). Her labs at that time were significant for a WBC of 19.8, hemoglobin of 7.5, and platelet count of 77. Her liver function enzymes were within normal limits, except for an LD of 1452. Her main complaint was severe abdominal pain, with physical exam findings of tender splenomegaly occupying the whole left hemiabdomen, extending up to her pelvis. Given her symptoms and cytopenias thought to be worsened by her splenomegaly, she underwent an open splenectomy (∼9 lbs), as shown in . Her recovery was complicated by small bowel injury and a left-sided pleural effusion.
The original plan was for salvage therapy with the combination of pralatrexate and romidepsin as a bridge to an allogeneic HSCT from her 10/10 HLA-match sister, but given her counts and performance status, we started her on single agent pralatrexate 10–20–30 mg/m2, of which she received 4 doses. Repeat PET scan showed disease progression, but given improvement in her performance status and counts, she was started on pralatrexate 25 mg/m2 and romidepsin 12 mg/m2·q for 2 weeks (days 1 and 15 of a 28-day treatment cycle).
Unfortunately, a few months after initiating combination therapy, she was hospitalized with a nosebleed, pancytopenia, and neutropenic fever. This progressed into worsening multiorgan failure of which she expired. |
pmc-6620857-1 | A 23-year-old male presented with chest pain and dyspnoea, a hemoglobin count of 7.4 g/dL, platelet count of <10 × 109/L, and white cell count of 11.6 × 109/L. Bone marrow (BM) biopsy and aspirate demonstrated a 95% infiltration of lymphoblasts (). Immunophenotyping of the BM aspirate showed lymphoblasts were CD10-, CD19-, CD20-, CD34-, TdT-, and HLA-DR-positive. Cytogenetic analysis revealed a complex clone in 10 cells analysed by G-banding containing various structural and numerical abnormalities including a derivative chromosome 22 from a translocation between the long arms of chromosomes 9 and 22. The composite karyotype was 44–48, XY, +X, t(1; 14)(p32; q32), −3, −6, add(6)(p21), add(7)(p21), add(8)(p21), −10, add(12)(p13), +16, add(19)(p13), der(22)t(9; 22)(q34; q11.2), +1∼2mar, inc [cp10]. Interphase FISH analysis showed the presence of BCR-ABL1 rearrangement in 64/100 cells analysed. Standardised RT-PCR and Sanger sequencing demonstrated e13a3 BCR-ABL1 transcripts [] (). E13a3 BCR-ABL1 transcripts lack ABL1 exon a2, thus prohibiting the use of a standardised primer/probe combination for e13a2/e14a2 BCR-ABL1 qPCR []. A modified BCR-ABL1 qPCR assay was therefore adopted utilising BCR forward primer ENF501F2 [] with ABL1 reverse primer ENR1063 and ABL1 probe ENP1043, the latter both complementary to ABL1 exon a3 sequence []. The BCR-ABL1 standard curve was constructed using serial dilutions of an e14a3 BCR-ABL1 plasmid over a five log range (100% to 0.001% BCR-ABL1 transcripts) with ABL1 as the reference gene as previously described []. Best practice guidelines for BCR-ABL1 qPCR and data interpretation were followed []. Presentation e13a3 BCR-ABL1 transcripts were of a high level (BCR-ABL1/ABL1 75.7%) consistent with a diagnosis of pre-pre-B cell Ph+ ALL.
The patient commenced induction treatment with rituximab, dexamethasone, vincristine, and daunorubicin, with imatinib 400 mg oral daily started on day 15. After phase-one induction, the bone marrow aspirate demonstrated a complete morphological response with residual disease detected by immunophenotyping and RT-qPCR (BCR-ABL1/ABL1 8.11%). After phase-two induction, the bone marrow BCR-ABL1/ABL1 level had fallen to 0.053%. Following high-dose methotrexate, the pre-ASCT BCR-ABL1 level was 0.034%. The patient proceeded to ASCT from an unrelated donor after cyclophosphamide and total body irradiation conditioning and recommenced continued imatinib maintenance. BCR-ABL1 transcripts were not detected in the peripheral blood at one, two, and three and a half months post-ASCT (). Continued close molecular monitoring is planned. |
pmc-6620858-1 | A 58-year-old woman came to our Center of Senology with an increase in volume of her right breast without sign of an infection. She is the mother of four children and under IUD Mirena and estrogel treatments. Her breast surgery history is the following: in 2003, excisional biopsy of a cluster of superior right-sided calcifications corresponding to benign calcifications on focus of fibrocystic mastopathy; in 2004, breast augmentation with retropectoral silicone implants and mastopexy; in 2011, replacement of implants following intracapsular rupture of the left one. The reference of her implants is the following: Allergan Inspira TSLP with volume of 300cc and textured surface. In her hereditary history, her maternal grandmother was diagnosed with breast cancer. The clinical examination revealed that her breasts are clearly dissymmetrical. The right breast being much larger and bulging than the left one, without suspicious mass detected. There is no skin retraction, no erythema, and no palpable lymphadenopathy. When performing mammography on a patient with breast implants, the guidelines specify to use Eklund's technique []. This technique comes with a limitation with the breast implant not visible on the photography. Consequently, we always perform an X-ray of the entire breast without compression before applying the method. This allows us to check the integrity of the prosthesis, to locate it and to estimate the proportion of mammary glands. Our center is equipped with a senographe Essential Full-Field Digital System from General Electric (GE) medical system company. On the mammography, the mediolateral oblique (MLO) view without compression demonstrates that the right prosthesis is deformed on its anterior surface (). In addition, there is a predominantly periprosthetic effusion on the anterior surface, which explains this deformation of the prosthesis. The effusion seems located in the prosthetic capsule. In Eklund incidence, no lesion has been observed. We performed a bilateral ultrasound with Canon Aplio i600 from Canon medical system company. This exam does not show any tumoral lesion or cyst. But it confirms the existence of a significant right periprosthetic fluid reaction. To obtain a diagnosis, a partial evacuation by fine needle aspiration was performed and 100cl of yellowish liquid was removed. The bacteriologic analysis of a part of this sample demonstrates no sign of infection. The pathologic evaluation of the second part of this sample firstly reveals the presence of atypical cells (). Immunohistochemical analysis then demonstrated a moderate and diffused expression of CD30 (). Moreover CD45 and Vimentins are expressed while ALK and CK7 are not. This sample was submitted for a blind analysis to four independent anatomopathologists who all came to the conclusion of a breast implant-associated anaplastic large cell lymphoma. The effusion is confined between the capsule and the prosthesis without extension beyond the capsule of the implant and no mass or lymph node is detected. Thus, the BIA-ALCL-specific TNM staging system designed by Clements et al. [] for this patient is T1N0M0 (Stage IA). The optimal treatment for patients with this stage is a complete surgical excision of the prosthesis and the capsule [–]. Consequently, our patient underwent bilateral capsulectomy and the right and left periprosthetic capsules were analyzed. Both capsules were entirely sampled and one section of each block was analyzed with particular attention to the luminal side. The histological and immunohistochemical analysis of the periprosthetic capsule did not show lymphomatous infiltration. A CD30 immunohistochemistry performed on each slide was negative. Three weeks after the surgery, the patient underwent a PET/CT scan which showed a discrete parieto-thoracic bilateral hyperfixation with a slightly more intense signal at the level of the 3rd right chondrocostal junction. However, this signal is unspecific given the postsurgical context. The disease was localized and no standard approach for systemic treatment for this patient was recommended []. Now, the patient has been disease-free with no evidence of disease recurrence for two years. |
pmc-6620858-2 | A 47-year-old woman came to our center with an increase in volume of her left breast without sign of infection. She is the mother of two children, without hormonal treatment. She has no hereditary history of breast cancer. In 2004, a breast augmentation was performed using retropectoral textured silicone gel implants, Allergan style 110, 330cc. The clinical examination revealed that her breasts were slightly dissymmetrical. The left breast was much larger than the right without suspicious mass detected and no palpable lymphadenopathy. On the mammography, the mediolateral oblique (MLO) view without compression demonstrates that the left prosthesis is deformed on its anterior pole and a periprosthetic collection developed mainly on the anterior surface of the prosthesis (). In Eklund incidence, no lesion is observed. We then performed a bilateral ultrasound. This exam did not show any tumoral lesion or cyst in both breasts. But it confirmed the existence of a significant left periprosthetic fluid reaction predominant in the inner region (). To get a diagnosis, a partial evacuation by fine needle aspiration is performed. The bacteriologic analysis of a part of this sample demonstrated no infectious sign. The pathologic evaluation of the second part of this sample identified atypical cells () and a positivity for CD30 (). Immunohistochemical analysis demonstrated an expression of CD45 and CD3. The cells did not express ALK and CK7. This sample was also submitted for a blind analysis to four independent anatomopathologists who all came to the conclusion of a breast implant-associated anaplastic large cell lymphoma. For this patient, the BIA-ALCL-specific TNM staging system is T1N0M0 (Stage IA). The patient underwent bilateral implant removal and capsulectomy. The total samples were analyzed. Similarly to the first case, no lymphomatous infiltration was found in the periprosthetic capsule and CD30 remained negative on each slides. Fifteen days after the surgery the patient received a PET/CT scan which showed a slight hypermetabolic area in the left side but unspecific. No other metabolic lesion was found. Considering the stage of the disease and the complete surgical excision including total capsulectomy and the absence of lymphomatous infiltration, no additional treatment was performed. The patient remains clinically well after 24 months of followup under close surveillance by our center and hematology clinic. |
pmc-6621927-1 | A 5-year-old girl without any contributively family or personal history was admitted at night to the emergency department because of an episode of loss of consciousness of a few seconds that followed abdominal pain, crying and urges. The parents observed pallor, cyanosis, loss of muscular tone and ocular revulsion. For a few months, she frequently complained about abdominal pain with short episodes of absence. Parents also reported a frequent cough and a reduction of exercise tolerance.
At admission, physical examination shows a systolic regurgitant murmur. Laboratory investigations showed a slight metabolic acidosis, increased concentrations of ultrasensitive Troponin T (65 ng/l) and of liver transaminases (ASAT 82U/l and ALAT 48U/l). N-terminal pro-Brain Natriuretic Peptide (NT-Pro-BNP) levels were elevated at 1,024 ng/l (normal value 12–214 ng/l).
Electrocardiogram (ECG) showed an incomplete right bundle branch block, compatible with a right ventricular hypertrophy. Echocardiography showed a slight enlargement of the right ventricle (RV) and right atrium, a tricuspid regurgitation that allowed the estimation of elevated systolic right ventricular pressure of more than 45 mmHg and pulmonary artery dilatation. Putative diagnosis in the emergency department was a severe seizure equivalent with secondary pulmonary hypertension and myocardial cell damage due to hypoxemia and acidosis.
During the next hours, the patient collapsed three times again since she was monitored. The crisis started with a tachycardia associated with a decrease of oxygen saturation followed by bradycardia and tonico-clonical seizures. The patient recovered spontaneously following the first crisis. Intrarectal diazepam was given to successfully stop the two other crises. Electro-encephalography (EEG) was compatible with the presence of partial epileptic seizures. Cerebral magnetic resonance imaging was normal. A treatment with valproic acid was started. Echocardiography was controlled on the next day that confirmed dilatation of the right cardiac cavities, a tricuspid regurgitation III/IV and an estimated RV pressure of 55 mmHg (half-systemic) suggesting the presence of pulmonary hypertension. Sleep apnea syndrome was excluded by polysomnography. Laboratory investigations fully normalized at day 2. After improvement under anti-comitial therapy she was discharged with the putative diagnosis of frequent partial epileptic seizures responsible for prolonged hypoxia and pulmonary hypertension.
However, she became increasingly breathless when exercising, especially at late afternoon and in the evening. She continuously complained about abdominal pain. Subsequent echocardiography showed a dilatation of the right atrium and right ventricle with an estimated RV pressure of 75–80 mmHg. There was sign of left ventricular compression with a flattening aspect of the interventricular septum.
Two weeks after the hospital discharge, she was therefore referred for invasive hemodynamic exploration performed under general anesthesia. Pulmonary artery pressure was 33 mmHg for the systolic, 17 mmHg for the diastolic and 25 mmHg for the mean pulmonary artery pressure (mPAP) and pulmonary vascular resistances index (PVRI) were elevated at 4.5 Wood units *m2, reaching 58% of systemic values. There was no fall of pulmonary arterial pressure with 100% of oxygen (O2). Vasoreactivity testing with inhaled nitric oxide (iNO) was not performed at that time and treatment with sildenafil was started at a dose of 10 mg 3 times daily (1.5 mg/kg/d). The valproic acid was switched to levetiracetam. Complete and exhaustive investigations following current recommendations were performed to exclude secondary PAH. During hospital stay, despite treatment with sildenafil and levetiracetam, she had another episode with tachycardia, loss of consciousness leading to respiratory arrest and hypotension justifying a transfer to the intensive care unit. The EEG registered during this incident showed a lack of electrical activity due to a low cardiac- and cerebral output. Patient underwent successful resuscitation.
A second invasive hemodynamic study was performed 5 days later with vasoreactivity testing with iNO showing a significant decrease of pulmonary arterial pressure and resistances (). The mPAP decreased from 31 to 17 mmHg with combination of O2 and iNO. The CI stayed above 3.5 L/min/m2 during vasoreactivity testing and the PVRI fell from 5.4 to 0.7 Wood units *m2. Subsequent to the catheterization she was transferred to the intensive care unit (ICU) with a Swan-Ganz catheter in place. On ICU she developed another paroxysmal episode initiated with sinus tachycardia 170 BPM with acute increase of the systolic PAP of 70 mmHg. Simultaneous echocardiography showed acute dilation of the right ventricle (RV) with important D-shape of the interventricular septum (IVS) and increased systolic RV pressure measured of tricuspid regurgitation. The episode resolved by administration of iNO through nasal cannula.
Calcium antagonist diltiazem was added to the treatment. Initially, there were still some events but progressively less important and no additional need for iNO administration. The epileptic treatment was stopped. After a couple of days, she could be discharged with no more recurrence of syncope. Diagnosis of vasoreactive PAH with low cardiac output, hypoxia and consecutive epileptic seizure was made. The vasodilator treatment was gradually increased to achieve high doses of diltiazem (12 mg/kg/d) and sildenafil (3 mg/kg/d).
Two and half years later, the clinical evolution is satisfactory with no single acute incidents reported and no complaints. The exercise tolerance is good without any limitation of physical activity (functional class I). The controlled cardiac MRI showed a normal function of the right ventricle without sign of dilatation. Laboratory investigations showed normal concentrations of ultrasensitive Troponin T (<3 ng/l) and NT-Pro-BNP (78 ng/l).
The pulmonary arterial pressure measured during last cardiac catheterization was 36/14/24 mmHg and decreased to 19/12/14 under iNO (20 ppm) and O2. PVRI fell from 5.4 to 1.5 Wood units *m2. The last 6 min walking test showed a walking distance of 470 m without desaturation, considered lower limit for the age (). Echocardiography currently shows slight dilation of the RV with minimal tricuspid regurgitation allowing to measure a systolic RV pressure of 28 mmHg and good RV function. |
pmc-6621952-1 | Approval was obtained from the institutional review board of Matsue Red Cross Hospital and a written informed consent to undergo surgery and use of clinical data was provided by the patient preoperatively.
A 66-year-old Japanese man with primary open-angle glaucoma underwent implantation of an Ahmed glaucoma valve (AGV) (model FP-7, JFC Sales Plan Co., Ltd., Tokyo, Japan) to reduce the intraocular pressure (IOP) in his left eye (OS). On preoperative examination, the best-corrected visual acuity (BCVA) was 1.0 in his OS and the IOP was 22 mmHg despite instillation of a topical prostaglandin, β-blocker, and α2 agonist after failed EX-PRESS® shunt (Alcon Japan, Tokyo, Japan) placed in the superonasal quadrant. The AGV plate was placed in the superotemporal quadrant, and the tube was inserted into the anterior chamber under a partial-thickness autologous scleral flap [, ]. No complications developed intraoperatively. Levofloxacin 1.5% (Nipro, Osaka Japan) and betamethasone 0.1% (Sanbetason; Santen Pharmaceutical) were applied topically four times daily for 3 weeks postoperatively. At 4 weeks postoperatively, he presented with a foreign body sensation in his OS.
At the referral, the BCVA and IOP were, respectively, 0.9 and 20 mmHg without glaucoma medication. A slit-lamp examination revealed a giant conjunctival cyst at the superotemporal quadrant (Fig. a) and dellen formation at the corneal limbus/conjunctiva adjacent to the anterior border of the giant cyst (Fig. b). Ocular pain was due to a giant bleb that bulged anteriorly from the AGV plate. Eight days after the referral, he underwent surgery to reduce the bleb volume in his OS (Additional file 1: Video S1). Under subconjunctival anesthesia using lidocaine 2%, a limbal peritomy was performed. The bleb capsule formed by Tenon tissue was dissected bluntly from the sclera and the conjunctiva (Fig. c). To recess the bleb, the anterior edge of the dissected bleb capsule was sutured using two interrupted 10–0 absorbable sutures (Vicryl, Johnson & Johnson, New Brunswick, NJ) back to the sclera to the anterior edge of the AGV plate (Fig. d, e). The conjunctiva was readapted with 10–0 Vicryl (Fig. f). Postoperatively, levofloxacin 1.5% and betamethasone 0.1% were applied topically four times daily for 3 weeks. One week postoperatively, the bleb size decreased, and the ocular pain resolved. Three months postoperatively, the BCVA and IOP were, respectively, 1.0 and 14 mmHg with three anti-glaucoma medications. A slit-lamp examination showed no bleb around the corneal limbus (Fig. g), but the bleb was present around the plate (Fig. h). Anterior segment optical coherence tomography (Casia 2, Tomey Corporation, Nagoya, Japan) showed no fluid accumulation around the tube (Fig. i); the anterior border of the bleb was restricted at the anterior edge of the plate (Fig. j). At the final visit 6 months postoperatively, the BCVA and IOP were, respectively, 1.2 and 11 mmHg with three anti-glaucoma medications; a well-formed bleb was seen only around the AGV plate. |
pmc-6621997-1 | A 64-year-old man with a 13-year history of coronary heart disease and 7-year history of hypertension was admitted to our hospital for acute onset dizziness and unsteady gait for one week. He reported acute onset of dizziness and difficulty in walking, and these symptoms would become worsened when he got up from the bed or sofa. On admission, his blood pressure was 135/85 mmHg and heart rate was 66 beats/min; and neurological examination revealed nystagmus on horizontal gaze. His pupillary reflexes and extraocular movements were intact, no limb weakness and sensory deficits were found; and bilateral finger--to-nose and heel-to-shin tests were normal. Additionally, bilateral Babinski signs were absent. However, Romberg sign was impossible to evaluate as the patient could not be able to cooperate with further examination.
Similarly, laboratory tests were within normal limits. Brain MRI performed 10 h after admission demonstrated two areas of restricted diffusion on diffusion-weighted imaging (DWI) in the left hemisphere (Fig. b). However, no acute infarction was seen in the posterior cerebral artery territories. Considering the location of infarction area could not well explain his clinical symptoms, a digital subtraction angiography (DSA) was done which revealed that the left ICA was occluded (Fig. a). Meanwhile, it showed that the left middle cerebral artery and bilateral anterior cerebral artery were supplied by the basilar artery via a PTA (Fig. b + c). Based on that we presumed that in the setting of acute left ICA occlusion, a cerebral blood flow steal phenomena occurred from posterior circulation to anterior circulation which caused the patient to have acute onset of dizziness and difficulty in walking. We also speculated that the PTA may play a protective role in preventing the patient from having severe anterior circulation ischemic stroke. Furthermore, CT perfusion showed no remarkable difference between the two hemispheres (Fig. a), which was consistent with the above conclusion. Therefore, the patient was given 100 mg aspirin and 20 mg atorvastatin daily and discharged one week later. During two years follow-up, the patient had no recurrence of stroke. |
pmc-6622113-1 | A 64-year-old man with cholelithiasis was referred to our institution. Then, he was incidentally found to have an aortic arch anomaly, KD with an ARSA (orifice diameter of 30 mm) and a distal arch aneurysm (diameter of 55 mm) (Fig. ). Anatomically it seemed to be difficult to expose and directly manipulate the orifice of the ARSA. In our institution, extra-anatomical subclavian artery bypass is routinely performed in TAR to simplify the surgical technique []. We decided to proceed to hybrid TAR with bilateral extra-anatomical axillary artery bypass (adding extra-anatomical right axillary artery bypass) to avoid a deep and difficult end-to-end anastomosis of the ARSA.
Initially, two pieces of branch grafts (9 mm), cut from a four-branch graft (28 mm J-Graft; Japan Lifeline Co., Ltd., Tokyo, Japan), were anastomosed to both the left and the right axillary arteries and connected to selective cerebral perfusion (SCP) circuit. Median sternotomy was performed. The ARSA was deeply located at just the right side of the main bronchus. Cardiopulmonary bypass (CPB) was initiated via the ascending aorta and the superior and inferior venae cavae. A left ventricle vent was inserted from the right superior pulmonary vein during systemic cooling. The ascending aorta was clamped, and cardiac arrest was achieved with antegrade cardioplegic solution. The proximal anastomosis was performed using a 4–0 prolene. When the temperature reached 28°C, hypothermic circulatory arrest was started with retrograde cerebral perfusion (RCP), which not only to protect cerebral but also to flush atheromatous debris out from the arch vessels. side the aorta, there were many red-colored thrombi in the orifice of the ARSA. The ARSA was ligated just at the right side of the main bronchus. The left subclavian artery was ligated at the region of origin. SCP cannulas were inserted to bilateral common carotid arteries. Then, RCP was stopped, and SCP was initiated through both axillary artery grafts and selective cannulas to the right and the left common carotid arteries. The aorta was transected just distal to the left common carotid artery, and a FET, (J Graft FROZENIX® Japan Lifeline Co., Ltd.), was inserted antegradely and deployed. A stump of the graft was anastomosed to the four-branch graft by a 4-0 prolene. The CPB was re-started through the side branch of the four-branch graft. Next, distal and proximal grafts were anastomosed by a 4-0 prolene. Both axillary artery grafts were delivered into the mediastinal space passing through the intercostal space. The anastomoses of the first, second and third side branches of the graft to the right common carotid artery, the left common carotid artery, and the left axillary artery graft, respectively, were performed. Finally, the right axillary artery graft was anastomosed to the first side branch using end-to-side anastomosis. After complete re-warming, CPB was weaned uneventfully. The perfusion times were as follows: CPB (145 minutes), RCP (1 minute), and SCP (87 minutes).
The patient was transferred to the intensive care unit in stable condition. His postoperative course was uneventful, and he recovered without any neurological deficits. Postoperative CT showed no anastomotic stenosis or endoleak or kinking of the graft (Fig. ). |
pmc-6623990-1 | A 47-year-old female presented with a five-week history of worsening purple, raised, painless, and non-pruritic lower extremity rash that started on her feet and progressed proximally. She reported progressive leg swelling and dyspnea with NYHA class IV symptoms. She denied chest pain or syncopal symptoms. There was no history of fever, chills/rigors, night sweats, arthralgia, or eye symptoms. Her travel history was negative.
The patient was febrile to 101.3°F at the time of presentation. Examination revealed conjunctival pallor, dental caries, track marks on the dorsal right hand, and bilateral lower extremity pitting edema. Her extremities demonstrated palpable purpura. Chest auscultation revealed bibasilar mid to late inspiratory fine crackles and a grade III pan-systolic murmur best heard over the apex with radiation to the axilla. Electrocardiogram (EKG) showed normal sinus rhythm, poor R-wave progression in anterolateral leads, and deep Q waves in V1 and V2.
Laboratory investigations were remarkable for leukocytosis of 12.6 k/uL, with 84.8% neutrophils, hemoglobin of 6.1 g/dL, elevated creatinine of 2.8 mmol/L, erythrocyte sedimentation rate (ESR) of 29 mm/Hr, and C-reactive protein of 7.01 mg/ dL. Troponin I was elevated at 0.42 ng/mL. Urine toxicology screen was negative, and urinalysis showed moderate protein and large blood.
The blood culture gram stain resulted positive for gram-positive cocci in chains. She received vancomycin and ceftriaxone. The constellation of fever, positive blood cultures, and unrepaired ASD with associated dental caries raised the concern of sub-acute bacterial endocarditis (SABE). Transthoracic echocardiography (TTE) did not reveal any new valvular regurgitation or vegetation. SABE was strongly suspected and transesophageal echocardiography (TEE) was performed. It demonstrated a sizeable mobile echo density measuring 1.7 x 3.4 cm on the anterior mitral valve leaflet (Figure ) causing mitral regurgitation (Figure ) and left ventricular outflow tract obstruction, a mobile echo density on the aortic valve (Figure ) causing moderate aortic regurgitation along with evidence of vegetation on the pulmonic valve (Figure ), tricuspid valve leaflet (Figure ), and ASD with a left to right shunt (Figure ).
Blood cultures resulted in Streptococcus viridans. She had significant involvement on the left side. The right-sided vegetation might have been due to the embolic phenomenon from the left side because of her left to right shunt. During the hospitalization, she developed abdominal pain and lactic acidosis. Magnetic resonance imaging (MRI) of the abdomen showed splenic infarction due to septic emboli. Doppler revealed possible occlusion in the mid to distal superior mesenteric artery branches due to the septic embolus. MRI of the brain revealed multiple small septic embolic infarcts in bilateral cerebral hemispheres and discrete areas of microhemorrhage. Given the extent of her valvular involvement and the presence of intracranial hemorrhage, the decision was made initially to medically manage the right-sided valves with six weeks of antibiotics followed by early surgical management, as the perioperative risk was high. She, however, went into cardiogenic shock further complicated by lower gastrointestinal bleed and passed away. |
pmc-6623993-1 | A 37-year-old female with recurrent E-coli urinary tract infections was hospitalized with fever, vomiting, abdominal pain, lethargy, and altered mental status. She has a history of type I diabetes mellitus with retinopathy, gastropathy, and peripheral neuropathy and also had pancreatic and renal transplantation. Vital signs were within normal limits except for a temperature of 101.5 °F and respiratory rate of 24. Physical examination was unremarkable, but she was lethargic, though responding to a painful stimulus. Laboratory results revealed hemoglobin (Hgb) of 10.7gm/dl, platelets at 125,000/μl, a creatinine of 0.5, and peripheral blood smear revealed occasional schistocytes with reduced platelets on the day of admission. Computed tomography scan of the abdomen/pelvis revealed diffuse bladder wall thickening, with free fluid, and an edematous left transplanted kidney. Urinalysis showed evidence of a yeast infection. These findings were consistent with acute cystitis and pyelonephritis. A fecal impaction was also noted on imaging.
Despite being treated symptomatically and receiving an enema, the patient continued to experience intractable nausea and vomit. A nasogastric tube was placed because of a possible bowel obstruction. Ceftriaxone and fluconazole were prescribed for suspected pyelonephritis with sepsis. Hgb dropped from 11.3 on day one to 8.3 on day three (due to hemolysis), white blood cell count of 18,000 and platelets were at 32,0000/μl on day 2. An acute kidney injury was confirmed with fractional excretion of sodium at 2.7%, and the creatinine increased from 2.5 on day two, to 6.6 on day five, and to 8.17 on day seven. Complement studies revealed a C3 level of 57 (normal range: 80 to 160 mg/dL) and a C4 level of 16.4 (normal range: 16 to 48 mg/dL). Cytomegalovirus and Ebstein-Barr virus studies were positive. Haptoglobin level was 79.30; the lactic acid dehydrogenase was elevated at 584. ADAMTS 13 (von Willebrand factor-cleaving protease) was positive at 58%, which indicated aHUS. The international normalized ratio was 1.74. Iron studies were: iron 179, total iron binding capacity 213, and transferrin 152. Kidney biopsy was done to know the exact cause of rising creatinine levels without any obvious cause, which revealed a rare glomerulus with marked capillary congestion and intraluminal thrombus, due to thrombotic angiopathy. Immunofluorescence studies depicted linear and mesangial immunofluorescence for immunoglobulin G and fibrinogen, consistent with TMA. Based on these findings, classical atypical HUS was diagnosed. Platelets and eculizumab were infused on the third day. The patient's clinical condition improved, and the laboratory values stabilized; she has prescribed eculizumab upon discharge. |
pmc-6623995-1 | History and physical
A previously healthy 32-year-old Caucasian woman with a past medical history significant for obesity (body mass index (BMI) 48.42), depression, and asthma presented to the emergency department (ED) with a daily headache for five weeks. She reported no headaches at baseline. Starting just over a month prior to the presentation, the patient began to have headaches that occurred two or more times a week. The frequency increased dramatically and on her initial ED visit, she was sent home on naproxen. A week later, she went to the ED again, reporting that her headache continued to occur multiple times a day at varying times, lasted several hours, and had variable foci. The headache was associated with photophobia, blurred vision, nausea, and vomiting. It was refractory to oral (PO) pain medications and sumatriptan. She denied any aura or flashes of light. The review of systems was positive for occasional chills and negative for fever, cough, wheeze, and runny nose.
Patient history was significant only for recent exposure to a respiratory syncytial virus through her daughter. She denied any recent travel and lived with two dogs at home. The patient reported occasional alcohol use and being a current smoker of one to two cigarettes per day. Family history was noncontributory.
On examination, she was afebrile, normotensive, and bradycardic, with a heart rate of 51/min and a respiratory rate of 18/min. She was oriented to person, place, and time; her pupils were round, equal and reactive; and she was found to have bilateral papilledema on physical exam. She had no focal deficits. The rest of the physical examination was normal. Therapeutic and diagnostic lumbar puncture (LP) was performed with opening pressure (OP) 38 cmH2O, and the patient reported an improvement in headache following LP.
Investigation
Initial workup included a normal magnetic resonance imaging (MRI) head venogram and CSF analysis demonstrating a lymphocytic pleocytosis with increased protein levels and normal glucose concentration (Figure ). Gram stain of CSF was negative for any organisms. Subsequent testing on CSF included meningitis/encephalitis nucleic acid amplification panel, which indicated the presence of HHV-6. Herpesvirus-6 immunoglobulin M (IgM) was 1:20 (negative as per interpretation) and herpesvirus-6 IgG resulted as 1:40. Basic labs did not indicate any acute infectious process and human immunodeficiency virus (HIV) panel showed negative HIV serology. After admission, other causes of aseptic meningitis were investigated and all tests came back negative, including Cryptococcus, Histoplasma, Coccidioides, and Mycobacterium. Subsequently, the patient’s initial CSF and serum were sent out for HHV-6A and HHV-6B viral load due to negative workup for aseptic meningitis. The results of testing showed an extremely high viral load at >999,999 viral copies/mL but were delayed three months due to outsourcing.
Differential diagnosis
While awaiting confirmatory test results, many differential diagnoses for a central nervous system (CNS) infection of unknown origin were entertained. Initial admission to hospital was for IIH, but other potential causes included: viral meningitis (enterovirus, herpes simplex virus (HSV), HHV, West Nile, human immunodeficiency virus (HIV)), fungal meningitis (Cryptococcus, Histoplasma, and Coccidiodes), Lyme disease, intracranial arteriovenous malformations, status migrainosus, and intracranial hemorrhage.
Treatments
In the ED, the patient was given prophylactic acyclovir 10 mg/kg q8h and acetazolamide 500 mg bid for potential HSV infection and presumed IIH. Eventually, meningitis/encephalitis nucleic acid amplification testing (NAAT) detected HHV-6 DNA in the CSF and acyclovir was changed to ganciclovir 2.5 mg/kg twice daily despite no confirmatory testing proving HHV-6 as the cause of the patient’s meningitis [-]. Upon admission for increased intracranial pressures, both acetazolamide and ganciclovir were continued for symptom relief, IIH coverage, and possible HHV-6 infection. Four days after the first LP, a second LP showed persistently elevated opening pressure but, this time, caused a worsening headache. Neurology was consulted and the patient was started on topiramate 25 mg qhs. On hospital day 16, the patient’s headaches improved to four episodes per day and she was discharged to home on acetazolamide, topiramate, and PO valganciclovir 900 mg bid [].
Outcomes and follow-up
Three weeks post-discharge, the patient was seen by her infectious disease provider and was found to have worsening symptoms. She complained of increasing headache, nausea, vomiting, visual disturbances, and neck stiffness. There was recurrent papilledema on examination, and she was admitted for worsening viral meningitis. LP was performed, which showed an elevated opening pressure of 27 cmH20, and CSF continued to be positive for HHV-6 DNA on NAAT. The patient was transitioned back to original ganciclovir dose and symptoms improved. She was discharged four days later on intravenous (IV) ganciclovir.
The outpatient course has since been stable, with mild to moderate headache occurring multiple times a week. Follow-up serial LP normalized with OP 18-27 cmH2O and IIH medications were stopped. HHV-6 viral load was periodically assessed and has decreased to as low as 4,290 viral copies/mL (Figure ). She was switched to PO valganciclovir therapy after nine months of intravenous (IV) ganciclovir and continues to have longer headache-free periods and is tolerating therapy well. The plan is to continue antivirals with the goal of a viral load <1,000 viral copies/mL. |
pmc-6623996-1 | A 58-year-old male with KS, diagnosed at age 17, presented to our centre. Throughout adolescence and early adulthood, he identified as female; however, he later identified as male and used TRT periodically in adulthood for two to three decades. The patient tells us the dosing and frequency of TRT during this time period was variable and intermittent; however, we were unable to obtain further details. He was diagnosed with T1 Gleason Grade 3+3 prostate adenocarcinoma six years before presenting to our centre. At the time of diagnosis, prostate-specific antigen (PSA) measured 7.79 u/L. Due to a history of traumatic experiences with the healthcare system relating to his gender identity, he had not pursued prostate cancer treatment. A second biopsy was performed after our initial consultation with the patient and revealed progression to Gleason Grade 3+4. A repeat PSA had increased marginally to 8.22 u/L. The patient had stopped TRT for much of the time period between his diagnosis of prostate cancer and presentation to our centre. Ultrasound-guided biopsy demonstrated 4/12 cores positive with 4% of tissue positive for malignancy. Clinical staging found evidence for localized disease only. Past medical history included deep vein thrombosis (DVT) following a cycling accident, hypercholesterolemia, and hypertension.
During the ensuing discussions regarding prostate cancer treatment, the patient expressed concerns regarding his symptoms of hypogonadism including weight gain and gynecomastia. Accordingly, he wished to continue TRT. He was counseled by his urologist, radiation oncologist, and endocrinologist about the possible increased risk of cancer progression in the setting of exogenous testosterone administration. He felt he was at a turning point with regard to his gender identity and had recently become sexually active, thus continuing TRT to maintain virilization was important for his QOL. Ultimately, he decided to proceed with definitive treatment in view of his cancer progression, with the caveat that he would remain on TRT. He decided upon radiation therapy rather than surgical management as this option aligned best with his values. He received local radiation 11 months after his second biopsy to a dose of 76 Gy in 35 fractions.
Post radiation therapy, a total testosterone level of 6.7-25.7 nmol/L was targeted, falling in the low-normal range for his age. Figure illustrates a timeline of the patient’s diagnostic and treatment journey. Three months post radiation, his testosterone measured 27.5 nmol/L and PSA 2.4 u/L. Five months thereafter, this increased to testosterone of 34.5 nmol/L and PSA 4.87 u/L. The patient was advised that he likely has a residual disease with progression and a rapid PSA doubling time. After extensive discussion, he decreased his TRT dose by half. Around this time, he started tadalafil for erectile dysfunction and possibly due to its effectiveness, he eventually stopped TRT altogether. He attained good erectile function defined as function sufficient to complete sexual activity. At 14 months post-radiation, his testosterone dropped to 2.0 nmol/L, and PSA reached a peak of 5.6 u/L. He was advised to remain off TRT. Five months after discontinuing TRT, his PSA fell to 0.53 u/L. The responsiveness of his PSA to changes in TRT suggests that the prostate and possible residual disease remains sensitive to testosterone.
Since completing radiation therapy, the patient and his physicians have struggled to achieve a balance between adequate TRT to manage his hypogonadism symptoms and the risk of accelerating cancer progression. Long-term risk of hypogonadism includes osteoporosis; a bone mineral density showed a spine T-score of -1.4 and a femoral neck score of -0.3. After evaluating TRT risks and benefits, the patient has decided that the benefits of TRT outweigh the risk of prostate cancer progression. Under the supervision of his treatment team, the patient continues to use TRT variably four years after his initial presentation while adjusting for his PSA levels to optimize his QOL, gender identity, hypogonadism symptoms, and the risk of prostate cancer progression. |
pmc-6623999-1 | A 46-year-old male with a past medical history of hypertension presented to our trauma bay with complex injuries of the right nose and midface, which included an amputated nose, upper lip and right eyebrow approximately 40 minutes after an assault including numerous human bite wounds. His right ala, right sidewall, and right upper lip were entirely missing, with nasal airways on each side visible. The amputated specimens included nasal tissue which measured approximately 4.0 x 4.0 cm, the eyebrow 2.0 x 2.0 cm, and the upper lip 1.0 x 11.7 cm (Figure ). After rapid sequence intubation, assessment, and stabilization, the patient was taken to the operating room about one hour after the initial presentation for reattachment and wound reconstruction.
In the OR, the superior labial artery and a small outflow vein, which was likely part of the superior labial venous plexus, were identified and isolated from the lateral portion of the lip. However, the nasal segment contained no identifiable viable artery or vein. Therefore, the nasal and eyebrow portions were replanted similarly to full thickness skin grafts and the upper lip was replanted using microvascular techniques. The segments of each vessel were flushed with heparinized saline. Then, the superior labial artery was anastomosed using 9-0 nylon interrupted sutures, followed by anastomosis of the vein using 9-0 nylon. After three hours and 19 minutes of operating time, arterial blood flow was immediately apparent, but venous flow was not definitive. The wounds of the upper eyelid and right cheek were debrided and then closed.
To improve the chance of tissue survival, our patient was scheduled to receive hyperbaric oxygen treatment within 24 hours post-operation. However, the patient reported that his ears could not tolerate the pressure and therapy was postponed until otolaryngology could insert tubes at the bedside. Additionally, he was receiving 30 mg of enoxaparin daily to mitigate the chance of outflow venous thrombosis. The replaced nasal and eyebrow tissue and the microsurgically replanted upper lip appeared to have some minor ischemia at the lateral margins (particularly of the nasal tip) that would most likely require revision, but the majority of the three portions appeared healthy (Figure ).
Later that day, the patient reported upper extremity numbness. After a non-contrast CT showed no intracranial abnormality, he received 8.34 mg bolus of tPA followed by 75.1 mg of IV tPA over the course of an hour for possible ischemic stroke. Subsequent MRI showed a small acute left frontal cortical infarction. The next morning the patient reported chest discomfort and an EKG showed ST-segment elevation of inferior leads with elevated troponin peak of 132.2 due to myocardial infarction. The patient then underwent left heart catheterization that showed adequate flow and no need for further intervention. After these events, he received 30 mg of enoxaparin twice a day per protocol.
After tPA treatment, there was marked continuous sanguineous discharge from the replant sites and the eyebrow, nose, and upper lip began to appear increasingly dusky. Our patient was determined to be a high-risk candidate for immediate revision surgery and plans for secondary reconstruction were made. The patient returned six days later for facial wound debridement of necrotic wounds of the upper lip, nose, and right forehead with subsequent placement of Integra artificial dermis (Figure ). He subsequently underwent nose and upper lip advancement flaps to save oral competence. A month later, nasal reconstruction was undertaken with a left paramedian forehead flap and full-thickness skin graft to upper lip and nose. The second stage of reconstruction was done one month later including the second stage of the paramedian flap, ear cartilage graft to the nose, and full-thickness skin graft of the upper lip (Figure ). Subsequent reconstruction one month later included an Abbe flap from the lower lip to the upper lip and final revision of the forehead flap. Overall, our patient was satisfied with the cosmetic and functional outcome of his reconstruction four months after his final surgery (Figure ). |
pmc-6624000-1 | A 70-year-old Caucasian man presents from his outpatient provider with serum calcium > 15 mg/dL with complaints of one-month fatigue, weakness, poor oral intake, 10 lbs. unintentional weight loss, and periodic confusion noted by his wife. His past medical history is significant for hypertension, bronchial carcinoid tumor post-lobectomy 15 years prior, occupational asbestos exposure with calcified pleural plaques and low-risk prostate adenocarcinoma diagnosed 12 years prior, and recent negative biopsy one month prior to current admission. His medication is only amlodipine 10 mg daily and denies the use of any supplements. Family history is significant for lung cancer in his mother who was a heavy smoker and spinal cord astrocytoma in a daughter who is deceased. He denies any family history of sarcoidosis or autoimmune disease. Review of systems significant for right ankle soreness that began two weeks prior, and he denies fevers/chills, urinary symptoms, muscle aches, pain, fatigue, nausea/vomiting, or unintentional weight loss. Physical examination was non-contributory.
The patient’s admission labs were notable for normocytic anemia with hemoglobin of 13.2 g/dL (14.0-17.0 g/dL), hypercalcemia of 14.6 mg/dL (8.5-10.3 mg/dL) and acute kidney injury with a creatinine of 1.7 mg/dL from a baseline of 0.76 mg/dL. Electrocardiogram showed sinus rhythm without abnormal waveforms or intervals. With recommendations from nephrology and endocrinology, his hypercalcemia was managed with intravenous fluids, furosemide, calcitonin, and pamidronate. Diagnostic workup included a computed tomography (CT) of the abdomen and pelvis, skeletal survey, nuclear medicine bone scan, and serum protein electrophoresis /serum-free light chains analysis; all were normal with the exception of mild “nonspecific” splenomegaly to 14 cm and calcified mediastinal lymph nodes on CT. For bloodwork, his prostate-specific antigen was clinically stable at 5.9 (< 4.0 ng/mL), lactate dehydrogenase (LDH) 229 IU/L (125-240 IU/L), parathyroid hormone (PTH) 9 pg/mL (11-67 pg/mL), angiotensinogen-converting enzyme 35 U/L (8-52 U/L), aldolase 3.9 U/L ( ≤ 8.1 U/L), thyroid-stimulating hormone 2.0 uIU/mL (0.30-5.00 uIU/mL), 24-hour urine calcium of 1,027 mg/TVol ( ≤ 300 mg/TVol), PTH-related peptide (PTHrp) 17 pg/mL (14-27 pg/mL), and calcitriol (vitamin D, 1, 25 OH) of 133 pg/mL (18-72 pg/mL). Quantiferon gold was negative.
The patient was discharged with a stable serum calcium of 10.3 mg/dL with outpatient follow-up from nephrology, endocrinology, and hematology/oncology. With high suspicion of hypercalcemia of malignancy, the patient was started on denosumab while continuing his workup. Peripheral blood flow cytometry, bone marrow biopsy, and fluorescence in situ hybridization analysis were unremarkable. One month after discharge, a positron emission tomography scan (PET-CT) was performed and was significant for splenomegaly with large foci of hypermetabolic activity, concerning for lymphoma (Figure ). Twenty two days following PET-CT, a follow-up ultrasound was performed revealing splenomegaly to 18.5 cm and numerous hypoechoic masses throughout the spleen (Figure ). The masses demonstrated internal color Doppler flow with the largest measuring 9.6 x 7.8 x 8.9 cm. Two months following presentation, a laparoscopic splenectomy was planned, however in the operating room, the spleen was found to have enlarged to approximately 22 cm in length with multiple internal tumors and omental adhesions requiring a conversion to an open laparotomy (Figure ). Pathology revealed primary splenic large B-cell lymphoma (macronodular pattern). Large cells were positive for CD20, CD79a, and PAX-5; neoplastic cells were positive for BCL-2, and Ki-67 showed a high proliferation rate up to 90% among neoplastic cells. The patient’s hypercalcemia completely resolved following splenectomy, and he is currently receiving standard R-CHOP therapy (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone) for diffuse large B-cell lymphoma (DLBCL) (Figure ). |
pmc-6624119-1 | The patient is a 69-year-old, 55 kg, 153 cm female with metastatic appendiceal adenocarcinoma who presented with an enlarging abdomen consistent with loculated, mucinous ascites and omental thickening. The preoperative computerized tomography (CT) scan of the abdomen and pelvis showed a large cystic mass in the pelvis associated with a soft-tissue element of the mass. It extended into the retroperitoneum and encapsulated the right renal artery, impressing on the posterior wall of the inferior vena cava. A moderate to large hiatal hernia was also noted. CRS/HIPEC surgery was recommended.
Other significant past medical history included stable gastroesophageal reflux disease (GERD) and a history of left-sided breast cancer status post-mastectomy and vertical rectus abdominis musculocutaneous (VRAM) flap. During her preoperative workup, the patient endorsed increasing bilateral lower extremity edema, abdominal distension and bloating. An electrocardiogram (ECG) also revealed q waves in the anterolateral leads; as a result, she was referred for cardiac evaluation. An echocardiogram revealed an EF of 20-25% with diffuse global hypokinesis. A left heart catheterization revealed no obstructive disease. Therefore, she was diagnosed as having chronic heart failure with reduced ejection fraction due to non-ischemic cardiomyopathy. The etiology was presumed to be from previous chemotherapy for breast cancer. She was started preoperatively on lisinopril and furosemide which led to a notable improvement in symptoms including resolution of orthopnea and decreased lower extremity edema. Her preoperative hemoglobin was 10.3 grams per deciliter (g/dL) and sodium was 133 milliequivalents per liter (L). All other preoperative labs were generally unremarkable. She did not have an automated implantable cardioverter defibrillator (AICD) or history of noted arrhythmias.
On the day of surgery, we decided to forego epidural placement, which is standard, for this case because we wanted fewer confounders in the workup of any post-operative hypotension. After applying standard American Society of Anesthesiologists (ASA) monitors and giving 2 mg intravenous (IV) midazolam, a pre-induction arterial line was placed. The patient was then pre-oxygenated and induced with 100 mcg IV fentanyl, 60 mg 2% IV lidocaine, 14 mg IV etomidate, and 80 mg IV succinylcholine. A 16-gauge peripheral IV catheter was placed and additionally, an 8 French (Fr), double lumen, 16 cm central venous cannula was placed in the right internal jugular vein under ultrasound guidance. Both the arterial line and central line were connected to a FloTrac/Vigileo device (Edwards Lifesciences, Irvine, CA, USA) which then calculated cardiac index (CI), systemic vascular resistance (SVR), stroke volume variation (SVV), and CVP (Figure ).
We followed the trend of these numbers to guide fluid therapy. The initial values were CVP 17 mmHg, SVR 1500 dyn/s/cm5, CI 2.1, and SVV 3. A transesophageal echocardiography (TEE) probe was placed and connected to a Philips machine (Philips Professional Healthcare, Netherlands, Amsterdam). We performed a standard 28 view baseline exam (Figure ).
Findings included an ejection fraction (EF) of 25% and severe global hypokinesis as well as dilated left ventricle (LV) chamber, mild to moderate mitral regurgitation, no other significant valvular pathology, and normal right ventricle (RV) function (Figures -).
The patient also was found to have a baseline left mild to moderate pleural effusion (Figure ).
Premixed norepinephrine and epinephrine infusions were present in the room in case of any prolonged hypotension. Our plan was to be very judicious with fluids, making sure to keep our hands on the roller clamp any time medications were bolused, in order to immediately shut off the IV to avoid excessive crystalloid administration. We would preferentially use 5% albumin for volume if necessary and use SVV trend, CVP trend, UOP and TEE guidance during periods of hypotension, and periodically throughout the case to guide whether to administer colloid or vasopressor. Our vasopressor of choice to bolus was ephedrine due to inotropic qualities, and norepinephrine if we needed an infusion because of some Beta 1 activity providing inotropy without causing as much tachycardia and arrhythmia potential as other inotropes such as epinephrine and dobutamine. The patient’s baseline systolic blood pressure (SBP) was 114 mmHg; our goal was to stay within 20% which was an SBP > 90 mmHg. Our goal urine output was 0.5 mL/kg/hr which was about 30 mL/hr in this patient. We did not have a target amount of fluid replacement per hour and were rather going to give as little fluid as possible to maintain continued urine output and hemodynamic stability without high dose pressors. An SVV consistently greater than 13 along with hypotension was the threshold to give albumin or CVP continuing to trend down. We also looked at the trans-gastric short axis view of the left ventricle on TEE frequently to look for signs of the ventricular function worsening or improving with fluid or signs of the ventricle further dilating to signal possible fluid overload.
The surgeon commenced by making a large laparotomy incision and immediately drained 15 L of mucinous ascites from the patient’s very large, protuberant abdomen. He then performed cytoreductive surgery which included: appendectomy, splenectomy, bilateral removal of adnexal tumor, including ovary and tube, resection of umbilicus, resection of the falciform ligament with tumor and peritoneal resections of the right flank (20 cm), pelvis (10 cm), right upper quadrant (20 cm), and left upper quadrant (10 cm).
After draining the initial 15 L of ascites, the CVP dropped from 17 mmHg to 8 mmHg. We examined the LV on TEE and the contractility appeared to improve, going from EF 25% to about 30%. This also corresponded to improvement in CI from 2.1 to 2.5. The SVV stayed the same (around 3) as did the SBP, so therefore we did not bolus any additional fluid during this time. About two hours into the surgery, we began to very slowly infuse 5% albumin as SVV was slowly increasing up to 15, the UOP had slightly dropped, and we were giving frequent bolus doses of ephedrine and phenylephrine. The left ventricle (LV) chamber appeared less dilated than baseline indicating possible fluid responsiveness. As we infused about 750 mL of 5% albumin over the course of three hours and a small bolus dose of crystalloid, SVV trended down to below 13 and the LV did appear more distended with somewhat decreased LV function and dyskinetic movement (Figure ).
The CVP was unchanged over those few hours, but we decided based on the TEE that the patient was volume replete and we should stop our fluid infusion to avoid overload.
After about six hours, the patient’s incision was closed and the HIPEC portion commenced. Inflow and outflow cannulas were inserted into the abdominal wall and the circuit was run with inflow at 43 °C and the outflow of approximately 41 °C to instill mitomycin. The patient was manually agitated during the perfusion. During the HIPEC portion, the patient had relative hypotension and tachycardia due to hypermetabolism from hyperthermia. Due to the mechanical agitation of the patient, our Flotrac/Vigileo numbers were not accurate so we periodically examined the TEE to confirm the stability of cardiac function and chamber size. Afterward, the patient’s abdomen was irrigated and hemostasis and closure was achieved. We checked the arterial blood gas (ABG) at three points during the case. Hemoglobin on the ABGs trended from 8.8 g/dL to 8.2 g/dL mid-case to 6.9 g/dL by the end of the case. A complete blood count (CBC) was sent which showed a hemoglobin of 7.3 g/dL and we decided not to transfuse as the patient was hemodynamically stable without vasopressors and mildly fluid overloaded. The base balance on ABG went from 0.7 to 2 to -3.6 immediately prior to extubation at the end of case and bicarbonate went from 27 to 21 from the beginning to the end of the case. The patient was never significantly acidotic. Electrolytes were checked midway through the case and creatinine was 0.5. Total surgical time and total anesthesia time were 8 hours, 46 minutes and 9 hours, 15 minutes, respectively.
Regarding total fluid balance, the estimated blood loss was 150 mL and total urine output was 510 mL. We used a total of 1.7 L of crystalloid and 750 mL of 5% albumin. The hemodynamic parameters at the end of the case were a CVP of 6, SVV of 7, and TEE showed the LV function and chamber size was back to the patient’s beginning of surgery baseline. There were no new wall motion abnormalities and there was interval development of a small pericardial effusion without hemodynamic consequence to which we alerted the surgeon (Figure ).
The left pleural effusion was stable to slightly enlarged at the end of the case.
The patient was extubated at the end of the case and taken to the post-anesthesia care unit (PACU) with stable vital signs. Her post-operative course showed consistent improvement with each day, no requirement for supplemental oxygen, no signs or symptoms of gross fluid overload or heart failure, and excellent kidney function. Her prescription for lisinopril and furosemide was restarted post-operatively. The patient was discharged from the hospital to her home on post-operative day eight (POD) in stable and good condition. |
pmc-6624151-1 | A 55-year-old man with a history of type II diabetes mellitus, hypertension, obstructive sleep apnea, and depression developed pleuritic chest pain and shortness of breath, and had a syncopal episode during a car trip from Texas to Cleveland. In the emergency room (ER), his blood pressure was 120/83 mmHg, pulse 119/min, respiratory rate 22/min, temperature 36.6oC, and oxygen (O2) saturation was 93% on room air. Physical exam was notable for an obese male in no acute distress with tachycardia, regular rhythm, clear lungs, shallow breaths without accessory muscle usage, and mild epigastric tenderness. His electrocardiogram (ECG) demonstrated sinus tachycardia at 117 bpm with a deep S wave in lead I, a small Q wave and inverted T wave in lead III (Figure ).
Initial laboratory testing was significant for serum sodium 132 mmol/L, creatinine 1.6 mg/dL, ProBNP 3188pg/mL, and initial troponin 0.12, peaking at 0.2 on hospital day two. Computed tomography (CT) chest showed bilateral submassive pulmonary emboli in multiple branches of the right and left upper and lower lobe pulmonary arteries, with no indication of a saddle embolus or main pulmonary artery thrombus (Figures -).
The patient was started on an intravenous (IV) heparin drip and thrombolytics were deferred due to perceived hemodynamic stability and timing of presentation. While in the ER, he became more tachycardic with heart rate 130-140 bpm, and developed jugular venous distention and acute hypoxemia requiring 3 liters (L) nasal cannula to maintain normal O2 saturation. He was admitted to the medical intensive care unit (MICU) due to possible signs of acute decompensation.
In the MICU, ultrasound revealed a right popliteal deep vein thrombosis (DVT); an inferior vena cava filter was considered, but the patient was considered hemodynamically stable and placement of a filter was deferred. Over the second and third hospital days, he remained tachycardic at 105-130/min with blood pressures in the 110/80 mmHg range and stable O2 saturations on 3L per nasal cannula. Transthoracic echocardiogram revealed right ventricular strain and a mobile structure in the right atrium, possibly consistent with thrombus. On hospital day four, he remained hemodynamically stable but experienced mild pleuritic chest pain and shortness of breath. On hospital day five, the patient was switched from IV heparin to enoxaparin 120 mg twice daily with a two-hour overlap; he was noted to have a transient O2 desaturation but remained normotensive. In the early hours of day six, he became diaphoretic and developed sustained tachycardia at 140/min with a blood pressure of 100/70 mmHg. He then developed chest pain and worsening dyspnea and lethargy, and was found to be in atrial flutter with 2:1 block. In the early afternoon, while speaking with the medical team and later while working with physical therapy, the patient complained of worsening shortness of breath, and was noted to be diaphoretic and persistently tachycardic at 120/min. Shortly thereafter, he lost consciousness and was found to be in cardiac arrest. He was treated per advanced cardiac life support (ACLS) protocol with temporary restoration of circulation, but became asystolic and was pronounced dead after 30 minutes. |
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.