Riggsprater5326

A 75-year-old woman presented with perineal wound dehiscence and small bowel prolapse of a perineal hernia, 6 years after extra-Levator AbdominoPerineal Excision (eLAPE) procedure for rectal cancer. She underwent emergency wound refashioning and perineal hernia repair with Parmacol mesh. Her postoperative recovery was complicated by long-standing ileus, wound infection, and she was discharged to community palliative care services. In this case report, we raise awareness of postoperative eLAPE complications and describe an unfortunate case where a postoperative perineal hernia was not repaired in a patient with multiple comorbidities.Acute oesophageal necrosis (AEN) is a rare entity that most commonly presents as upper gastrointestinal bleeding. Complex pathophysiology may include oesophageal ischaemia as well as reflux of acidic gastric contents causing oesophageal mucosal injury. Management is supportive and directed at underlying comorbidities however prognosis is poor with complications such as oesophageal perforation, stricture and stenosis. Here we present the case of a 56-year-old man with multiple endocrine neoplasia type 1 (MEN1) and gastro-oesophageal reflux disease who developed AEN as a result of undiagnosed Zollinger-Ellison syndrome (ZES), duodenal ulcer-induced obstruction and hypotension from new-onset atrial fibrillation. AEN as the presentation of MEN1-associated ZES is an unusual presentation of this disease which clinicians, particularly endocrinologists and endoscopists, should be aware of.Eagle Syndrome (ES), also termed stylohyoid syndrome or styloid syndrome, is a rare condition characterised by a cluster of symptoms related to an elongation of the styloid process (SP) of the temporal bone. GSK-3 signaling pathway These may range from mild pharyngeal foreign body sensation and dysphagia to severe orofacial pain. High clinical suspicion is necessary owing to the unspecific clinical picture and limited diagnostic clues. Until a definitive diagnosis is achieved, these patients may develop symptoms which significantly impact their quality of life. The aim of this article is to report a case of ES in which a considerable length of SP was documented. Diagnosis was made years after the initial complaints and several medical workups by different specialties. Surgical resection of the elongated process by cervical approach was the adopted treatment modality. Patient recovery and follow-up was satisfactory, with remission of the afflicting symptoms.Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare, but serious systemic hypersensitivity reaction associated with a range of medications. We present two cases of vancomycin-induced DRESS, which occurred simultaneously in the orthopaedic ward in an outer metropolitan hospital. These cases demonstrate the complexity in the diagnosis and management of this inflammatory syndrome on the background of known infection as well as evidence for linezolid as an alternative to vancomycin. The first case was managed conservatively, but developed progressive renal and liver injury along with demonstrated cytomegalovirus reactivation and recurrent colitis, and was eventually palliated. The second was commenced on intravenous glucocorticoids and achieved remission, although had ongoing renal dysfunction at the time of discharge from outpatient follow-up.A 57-year-old Southeast Asian woman with a remote history of adenoid cystic carcinoma (ACC) of the right labium superius oris (upper lip) presented to the hospital with vague epigastric pain. On workup, she was found to have multiple pleural nodules. Histopathology confirmed the diagnosis of metastatic ACC. After 8 months of active surveillance, evidence of disease progression was found and the patient was started on pembrolizumab. Follow-up after starting pembrolizumab showed stable disease with no significant side effects.Symptomatic drug-induced liver injury (DILI) is an uncommon problem. Direct DILI is dose-related, predictable with short latency (hour to days) and is generally associated with transient and reversible transaminitis without jaundice. Antimetabolites including methotrexate are a common cause for direct DILI. Hepatotoxicity associated with high-dose methotrexate (HD-MTX) is generally transient and includes reversible elevation of transaminase in up to 60% and associated hyperbilirubinaemia (≤grade 2) in 25% of courses and therefore is of no clinical significance. Severe grades of DILI with HD-MTX (grade ≥4) are extremely rare. We describe an adolescent with Burkitt leukaemia who had reversible grade 4 DILI including hyperbilirubinaemia postfirst course of HD-MTX. Rechallenge with two-third dose of HD-MTX in subsequent chemotherapeutic cycle did not cause recurrence of DILI.We present an unusual case of mucinous cystadenoma presenting with severe virilisation in a postmenopausal woman. A 71-year-old woman was referred to our outpatient endocrinology clinic because of rapidly progressive androgenic alopecia, clitoromegaly and male pattern pubic hair growth for 1 year. Her medical history was unremarkable. The serum testosterone level was 3.35 µg/L (normal range, less then 0.4 µg/L), and the dehydroepiandrosterone sulfate level was 267 µg/L (normal range, 100-800 µg/L). MRI of the abdomen revealed a 4×4 cm cystic ovarian mass. A bilateral salpingo-oophorectomy was performed, and histopathology showed a unilocular cystic structure with a yellowish content, compatible with mucinous cystadenoma. Postoperative testosterone levels quickly normalised ( less then 0.4 µg/L).Rapidly developing postmenopausal hyperandrogenism easily turns into a diagnostic challenge for the clinician. Hormone-secreting neoplasms of the ovary are most commonly of sex cord stromal derivation, but atypical causes must be recognised as well. Cystadenomas are among the most common benign ovarian neoplasms and are classically considered 'non-functional' tumours. Most of these tumours are asymptomatic and found incidentally on pelvic examination or with ultrasound. To date and to the best of our knowledge, there are only five cases of mucinous adenoma causing virilisation in postmenopausal women identified in the literature. This sixth case adds strength to the link between ovarian mucinous cystadenoma and severe, rapidly progressive hyperandrogenism during menopause. In this case, surgical resection is the treatment of choice.A 43-year-old man presented to hospital after routine laboratory tests showed an acute kidney injury and hypercalcaemia. He had no relevant medical history and normal physical examination, other than a 6-week history of lower back pain for which he had been taking naproxen. Low parathyroid hormone (PTH) levels indicated a PTH-independent hypercalcaemia. Investigations including CT of thorax, abdomen and pelvis and subsequent bone biopsy and renal biopsy were unremarkable. Positron emission tomography/CT (PET/CT) scan was ultimately considered as a diagnostic test and showed abnormalities in the right subpectoral and portacaval region with intense fluorodeoxyglucose F 18 uptake in local lymph nodes. A biopsy of the right subpectoral node showed granulomatous change consistent with sarcoidosis. PET/CT scanning can play an important role in the investigation of suspected malignancy, infection and inflammatory disease and in this case, was required to diagnose an atypical presentation of sarcoidosis.Influenza A and B commonly cause benign respiratory disease in humans, but can cause more severe illness in high-risk populations. We report an unusual case of a previously healthy adult patient who presented with myositis and severe rhabdomyolysis secondary to influenza A infection that resulted in atraumatic compartment syndrome of all four extremities, each requiring emergent fasciotomy. The patient was subsequently managed with delayed primary closure and skin grafting in the operating room. Prompt recognition of this rare complication by the team resulted in no limb amputations. On his first follow-up appointment, 1 month after discharge, he had regained full functionality in both his hands and his feet were both close to 50% of baseline and improving with physical therapy.Alveolar soft part sarcoma (ASPS) is a rare malignant neoplasm that tends to occur in the deep soft tissues of both adults and children. ASPS has a progressive clinical course that is unfortunately characterised by late metastases and an overall poor prognosis. Although the tumour has been reported in a wide range of anatomic sites, few cases of primary laryngeal ASPS are reported in the literature. Here, we report the case of a 24-year-old man with no significant medical history who presented with progressive mild dysphonia and hoarseness. Imaging studies revealed a well-circumscribed, partially cystic submucosal mass with involvement of the right vocal fold and other local structures, and the patient was referred for surgical excision. Morphological and immunohistochemical examination of the excised lesion revealed ASPS. The findings of this case are compared with those of seven additional cases of primary laryngeal ASPS, which were found following literature review.Squamous cell carcinoma (SCC) of the ampulla of Vater is a rare pathology and only few cases are reported in the literature. With limited experience of primary SCC in the ampulla of Vater, its biological behaviour, prognosis and long-term survival rates are not well known. A 38-year-old woman presented with a history of painless progressive jaundice for which self-expending metallic stent was placed 3 years back. She was evaluated and initially diagnosed as probably periampullary adenocarcinoma. She underwent pancreaticoduodenectomy and histopathology with immunohistochemistry was suggestive of SCC of ampulla of Vater. She received adjuvant chemotherapy and doing well with no recurrence after 1 year of follow-up. In conclusion, SCC of the ampulla is an unusual pathology that should be kept as a differential diagnosis for periampullary tumours. Surgical treatment with curative intent should be performed whenever feasible even in the setting of bulky tumour to improve the outcome.Proximal-type epithelioid sarcoma is an ultra-rare, high-grade soft tissue malignancy usually presenting as a deep-seated painless mass in the proximal extremities. Most patients are diagnosed as young adults, between 20 and 40 years of age. Perineal and genital masses do occur but are extremely rare and represent a challenging tumour to diagnose and treat. Early radical excision is recommended due to its aggressive behaviour and poor prognosis. Median overall survival from initial diagnosis is 30 months. We present the case of a 22-year-old man with a left groin proximal-type epithelioid sarcoma who is sadly deceased 12 months after initial presentation despite early surgical excision, completion of both first-line and palliative chemotherapy, and palliative radiotherapy.Transcriptional enhancers enable exquisite spatiotemporal control of gene expression in metazoans. Enrichment of monomethylation of histone H3 lysine 4 (H3K4me1) is a major chromatin signature of transcriptional enhancers. Lysine (K)-specific demethylase 1A (KDM1A, also known as LSD1), an H3K4me2/me1 demethylase, inactivates stem-cell enhancers during the differentiation of mouse embryonic stem cells (mESCs). However, its role in undifferentiated mESCs remains obscure. Here, we show that KDM1A actively maintains the optimal enhancer status in both undifferentiated and lineage-committed cells. KDM1A occupies a majority of enhancers in undifferentiated mESCs. KDM1A levels at enhancers exhibit clear positive correlations with its substrate H3K4me2, H3K27ac, and transcription at enhancers. In Kdm1a-deficient mESCs, a large fraction of these enhancers gains additional H3K4 methylation, which is accompanied by increases in H3K27 acetylation and increased expression of both enhancer RNAs (eRNAs) and target genes. In postmitotic neurons, loss of KDM1A leads to premature activation of neuronal activity-dependent enhancers and genes.