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Macronodular adrenal hyperplasia causing Cushing's syndrome due to ARMC5 gene mutation.
Orv Hetil. 2023 Aug 13;164(32):1271-1277. doi: 10.1556/650.2023.32817. Print 2023 Aug 13.ABSTRACTOur 69-year-old female patient was investigated for a 20 kg weight gain over 2 years. The patient's medical history included hypertension, hyperuricemia, bilateral cataract surgery and musculosceletal complaints. Diabetes mellitus was not found. Physical examination revealed abdominal obesity, proximal myopathy and atrophic, vulnerable skin. The "overnight", low-dose and long, low-dose dexamethasone suppression tests indicated autonomous cortisol overproduction (plasma cortisol level: 172.6 and 153.2 nmol/L, cut-off: 50 nmol/L)...
Source: Orvosi Hetilap - August 13, 2023 Category: General Medicine Authors: Zolt án Hella Judit T őke Attila Pat ócs Zsolt Varga Gabriella Dabasi G ábor László Kovács Mikl ós Tóth Source Type: research

Thymoma may explain the confusion: a case report
ConclusionThis case illustrates an exceptional association of two entities and the difficulty encountered during their diagnosis and treatment. The management of these two diseases is different, so it is essential to recognize this concomitant presentation.
Source: Journal of Medical Case Reports - December 16, 2021 Category: General Medicine Source Type: research

Avascular femoral necrosis as part of Cushing syndrome presentation: a  case report
ConclusionIn some cases, CS signs may go unnoticed and the diagnosis postponed. Avascular necrosis is a rare presenting feature of endogenous hypercortisolism, and, if left untreated, complete collapse of the femoral head may ensue, rendering the need for hip replacement in up to 70% of patients. Suspicion and recognition of atypical features is therefore important in avoiding complications and delay in treatment of CS.
Source: Journal of Medical Case Reports - May 26, 2021 Category: General Medicine Source Type: research

Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations.
Conclusions: Noninvasive genetic screening is recommended for mtDNA mutations in MT-NDs and MT-ATP6 genes in patients with ophthalmoplegia, muscle weakness, ataxia, and respiratory disorder. Furthermore, the lactate detection in CSF and the brain MRI scanning are suggested as the diagnosis methods for LS patients with mtDNA mutations. PMID: 30425197 [PubMed - in process]
Source: Chinese Medical Journal - November 15, 2018 Category: General Medicine Authors: Yu XL, Yan CZ, Ji KQ, Lin PF, Xu XB, Dai TJ, Li W, Zhao YY Tags: Chin Med J (Engl) Source Type: research

18FFluorodeoxyglucose positron emission tomography/computed tomography for diagnosing polymyositis/dermatomyositis.
Authors: Sun L, Dong Y, Zhang N, Lv X, Chen Q, Wei W Abstract [18F]fluorodeoxyglucose positron emission tomography/computed tomography ([18F]FDG-PET/CT) is useful for diagnosing cancers and inflammatory diseases. A polymyositis/dermatomyositis (PM/DM) lesion is an inflammatory heterogeneous disease of the striated muscle. In the present study, the maximum standardized uptake value (SUVmax) was compared between 22 cases with definite or probable PM/DM (PM/DM group) that underwent [18F]FDG-PET/CT examination and the same number of patients with no myopathy. The average proximal muscle FDG uptake value (SUVaverage) fo...
Source: Experimental and Therapeutic Medicine - May 30, 2018 Category: General Medicine Tags: Exp Ther Med Source Type: research