Vestergaardhayes1437

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. Actinomycin D mouse Taken together, these results suggest that KDM1A is a versatile regulator of enhancers and acts as a rheostat to maintain optimal enhancer activity by counterbalancing H3K4 methylation at enhancers.Sex cord stromal-tumors are rare tumors of the ovary that include numerous tumor subtypes of variable histological features and biological behavior. Surgery is the main therapeutic modality for the management of these tumors, while chemotherapy and hormonal therapy may be used in some patients with progressive and recurrent tumors. Several studies investigated molecular changes in the different tumor types. Understanding molecular changes underlying the development and progression of sex cord-stromal tumors provides valuable information for diagnostic and prognostic biomarkers and potential therapeutic targets for these tumors. In this review, we provide an update on the clinical presentation, molecular changes, and management of sex cord-stromal tumors.

To assess the independent causal effect of BMI and type 2 diabetes (T2D) on socioeconomic outcomes by applying two-sample Mendelian randomization (MR) analysis.

We performed univariable and multivariable two-sample MR to jointly assess the effect of BMI and T2D on socioeconomic outcomes. We used overlapping genome-wide significant single nucleotide polymorphisms for BMI and T2D as instrumental variables. Their causal impact on household income and regional deprivation was assessed using summary-level data from the UK Biobank.

In the univariable analysis, higher BMI was related to lower income (marginal effect of 1-SD increase in BMI [β = -0.092; 95% CI -0.138; -0.047]) and higher deprivation (β = 0.051; 95% CI 0.022; 0.079). In the multivariable MR, the effect of BMI controlling for diabetes was slightly lower for income and deprivation. Diabetes was not associated with these outcomes.

High BMI, but not diabetes, shows a causal link with socioeconomic outcomes.

High BMI, but not diabetes, shows a causal link with socioeconomic outcomes.