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  • Payne Storm posted an update 15 hours, 21 minutes ago

    Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous group of diseases characterized by autosomal dominant monogenic non-ketogenic diabetes mellitus, usually with early-onset, with a prevalence of 1-5% of all diabetes cases. A 72-year-old female was admitted with intestinal occlusion, anorexia, vomiting, and weight loss for four months. Medical history of type 2 diabetes mellitus, chronic pancreatitis with abnormal pancreatic development, and acute obstructive jaundice due to a mass in the head of the pancreas with duodenum extension four months before. Assuming surgically unresectable pancreatic neoplasm, digestive bypass surgery was performed. The pathologic examination of surgical specimens was negative for neoplasm. learn more Abdominal imaging showed the pancreatic mass, proximal bowel distension and ascites, which was negative for neoplastic cells. A percutaneous biopsy of the mass revealed adenocarcinoma. Palliative chemotherapy was started. Next-generation sequencing revealed the variant c.-8G>T in the 5′ untranslated region (UTR) region of the adenosine triphosphate (ATP) binding cassette subfamily C member 8 (ABCC8) gene in heterozygosity, associated with the MODY 12 subtype. We report a possible case of MODY 12 diabetes with a phenotype not previously described a non-neoplastic pancreatic mass that appears in a previously abnormally developed pancreas, with evolution to neoplasm along with the late development of diabetes mellitus. Although this ABCC8 gene mutation could be incidental, there could be a relationship between this mutation, pancreatic malformation, chronic pancreatitis and pancreatic neoplasm. Investigation of new phenotypes is critical, including the potential role of the ABCC8 gene in oncogenesis.

    As coronavirus disease 2019 (COVID-19) became a public health emergency of international concern, countries across the globe began to instate strict social distancing restrictions or “lockdowns”. During these times emergency departments in the United Kingdom (UK) recorded a significant drop in patients attending when compared to the same months of previous years. Attendances related to musculoskeletal (MSK) trauma also saw a significant drop in numbers Objective The purpose of this retrospective audit was to investigate patterns of injuries attending during the pandemic and more specifically during times of lockdown.

    Retrospective audit data was collected from an electronic medical record system (MediTech V6) during the time period of the first lockdown in the UK. Data was collected for patients attending the emergency department at the Queens Hospital Burton site of the University Hospitals of Derby and Burton National Health Service (NHS) Trust. Presenting complaints were recorded for the entire emergen the changing patterns of behaviour especially as we enter a second wave of cases.Unilateral diaphragmatic paralysis is a rare complication after stroke. We report a case of right-sided hemidiaphragmatic paralysis after stroke in a 51-year-old man who presented with shortness of breath and orthopnea. Chest X-ray (CXR) revealed an elevated right-sided hemidiaphragm. The weakened diaphragmatic contraction from paralyzed right hemidiaphragm resulted in persistent atelectasis of the right lung base and inadequate alveolar ventilation leading to the development of right basal pneumonia with hypercapneic respiratory failure. However, the patient had a remarkable improvement with the appropriate institution of non-invasive ventilation and medical management with intravenous antibiotics.The thalidomide molecule is a remarkable molecule that exists in a racemic mixture of optical isomers. In the 1950s, due to its teratogenicity, the levorotatory isomer led to its dramatic downfall. However, the molecule with its panoramic mechanisms of action and its uncanny ability to intercalate within the geometry of deoxyribonucleic acid (DNA), led to its remarkable renaissance; thalidomide being United States Food and Drug Administration (FDA)-approved for at least 13 different indications ranging from multiple myeloma to leprosy to glioblastoma. Thalidomide-induced polyneuropathy is usually reversible and is the rate-limiting step in its long-term use. The development of a polyneuropathy is invariably associated with a cumulative dose exceeding 20 grams. However, the polyneuropathy is almost always a sensory neuropathy. Asymmetry, bona fide weakness such as difficulty standing on the heels, a poly-ganglioneuropathy pattern with widespread or patchy numbness and sensory ataxia should raise a red flag and an alternative diagnosis should be considered. We present a typical case of a thalidomide-induced sensory neuropathy in order to highlight the resurgence of thalidomide use in clinical practice. We review the literature and outline the molecular biology of the thalidomide molecule.Stroke is one of the leading causes of death and disability worldwide. It is associated with a high economic burden, causing an increasing demand for highly effective, curative, and long-lasting therapies. Stem cells are unique human cells that have the capacity for developing into specialized cell types with the potential for facilitating regeneration and repair of damaged tissues. Therefore, many preclinical studies have shown the feasibility, safety, and efficacy of stem cell-based therapies; however, the evidence is still inadequate for their therapeutic use in humans. We employed a systematic approach to search published data from 2000 to 2020 on five main databases PubMed, PubMed Central, Google Scholar, ScienceDirect, and Medline. Two research registries were also searched the Cochrane Registry and clinicaltrial.gov. Data was collected after applying inclusion and exclusion criteria and studies were appraised critically. Both Medical Subject Headings (MeSH) and regular keyword search strategies were employed. The findings of this study are in line with previously reported studies in which stem cell-based therapies were found to be relatively safe, feasible, and effective.Here we report a case of a 65-year-old female, where we encountered acute glomerulonephritis. The patient initially presented with a hemorrhagic blister involving the second through fourth toes with serosanguinous discharge and was on hydralazine for blood pressure control. Differentials included Staphylococcus-associated/lupus nephritis/anti-neutrophil cytoplasmic autoantibody (ANCA) vasculitis. Still, detailed history and meticulous clinical approach with supporting labs and imaging helped us to narrow it to Staphylococcus-associated glomerulonephritis, which is rarely encountered in clinical practice and is associated with high mortality. The management of the patient resulted in a positive outcome and she was discharged home.