research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure October 2023 in “BMJ Case Reports” Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research Dyslipidaemia in women with polycystic ovary syndrome referred to a teaching hospital in Cape Town, South Africa 3 citations , June 2024 in “Journal of Neuroendocrinology” Many women with PCOS have abnormal cholesterol levels, needing careful management.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy 26 citations , August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome 15 citations , January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Cardiac and Renal SARS-CoV-2 Viral Entry Protein Regulation by Androgens and Diet: Implications for Polycystic Ovary Syndrome and COVID-19 3 citations , September 2021 in “International Journal of Molecular Sciences” Androgens and a high-fat diet may increase the risk of severe COVID-19 in women with PCOS by upregulating certain proteins in the heart and kidneys.