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Total 758 results found since Jan 2013.
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
Unusual presentation of antisynthetase syndrome: a case series and review of the literature
ConclusionsThe high variability of the antisynthetase syndrome in these cases demonstrates the importance of identification through an expanded panel and highlights the probability that this is a variable disease and that we need to include emerging molecular tests to promote the timely treatment of patients.
Source: Journal of Medical Case Reports - July 30, 2023 Category: General Medicine Source Type: research
Patent foramen ovale leading to mismanagement in a mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke ‐like episodes patient
We report the clinical, imaging, echocardiography and muscle biopsy findings of a patient presenting by unique characteristics which have not been reported in previous cases of MELAS. The reported case is a 34 year old man with the history of three times hospitalization due to muscle weakness, encephalopathy, progressive cognitive decline, and gradual visual loss. Muscle biopsy revealed Ragged Red Fibers concomitant with mitochondrial disorders. PFO was found in echocardiography leading to mismanagemen t of this patient and MR imaging showed ischemic lesions with a progressive pattern. This is the first reported case of...
Source: Clinical Case Reports - July 21, 2023 Category: General Medicine Authors: Mehri Salari,
Masoud Etemadifar,
Ronak Rashedi,
Romina Rashedi Tags: CASE REPORT Source Type: research
An atypical presentation of hypothyroidism with extremely exaggerated functional impairment
We report a 34-year-old woman, presenting with a new atypical musculoskeletal manifestation of hypothyroidism mimicking polymyositis.
Source: Clinical Case Reports - July 19, 2023 Category: General Medicine Authors: Alireza Arezoumand,
Sahar Nazari,
Kimia Jazi,
Mohammad Bagherzade,
Mohammad Mehdi Riahi,
Melika AkbariMehr,
Narges Kanganee,
Maryam Masoumi Tags: CASE REPORT Source Type: research
Effective treatment of choreaballism due to an MT ‐CYB variant with haloperidol, tetrabenazine, and antioxidants
Cerebral CT showing bilateral putaminal calcifications of a patient with multisystem mitochondrial disorder due to the variant 15043G > A inMT-CYB. Key Clinical MessageHypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome and in maternally inherited diabetes and deafness syndrome. The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloper...
Source: Clinical Case Reports - June 21, 2023 Category: General Medicine Authors: Josef Finsterer,
Ritwik Ghosh Tags: CASE REPORT Source Type: research
Identification of m.3243A & gt;G mitochondrial DNA mutation in patients with cerebellar ataxia
CONCLUSION: Mitochondrial m.3243A>G mutation accounted for 0.9% (2/232) of genetically-undetermined cerebellar ataxia in the Han Chinese cohort in Taiwan. These findings highlight the importance of investigating m.3243A>G in patients with genetically-undetermined cerebellar ataxia.PMID:37311680 | DOI:10.1016/j.jfma.2023.05.031
Source: J Formos Med Assoc - June 13, 2023 Category: General Medicine Authors: Nai-Yi Liao Kuan-Lin Lai Yi-Chu Liao Cheng-Tsung Hsiao Yi-Chung Lee Source Type: research
Critical illness myopathy and trajectory of recovery in acute kidney injury requiring continuous renal replacement therapy: a prospective observational trial protocol
Introduction
Acute kidney injury requiring renal replacement therapy (AKI-RRT) is common in the intensive care unit (ICU) and is associated with significant morbidity and mortality. Continuous RRT (CRRT) non-selectively removes large amounts of amino acids from plasma, lowering serum amino acid concentrations and potentially depleting total-body amino acid stores. Therefore, the morbidity and mortality associated with AKI-RRT may be partly mediated through accelerated skeletal muscle atrophy and resulting muscle weakness. However, the impact of AKI-RRT on skeletal muscle mass and function during and following critical illn...
Source: BMJ Open - May 22, 2023 Category: General Medicine Authors: Teixeira, J. P., Griffin, B. R., Pal, C. A., Gonzalez-Seguel, F., Jenkins, N., Jones, B. M., Yoshida, Y., George, N., Israel, H. P., Ghazi, L., Neyra, J. A., Mayer, K. P. Tags: Open access, Intensive care Source Type: research
Challenge in modern intensive care: chronic critical illness - pathophysiology and therapeutic options
Orv Hetil. 2023 May 7;164(18):702-712. doi: 10.1556/650.2023.32745. Print 2023 May 7.ABSTRACTThe recent developments in intensive care have resulted in improved survival rates of patients treated with acute organ deficiency. As a consequence, the rate of those who survive the acute phase and subsequently require protracted organ support due to persisting organ dysfunction has been growing. Several survivors display chronic health status deterioration leading to prolonged rehabilitation or nursing, and repeated hospitalizations. The condition developed following the survival of the acute phase and requiring long-lasting int...
Source: Orvosi Hetilap - May 7, 2023 Category: General Medicine Authors: Luca Krisztina K ópházi Istv án Keve Kárpáthi Viktor Keszty űs Enik ő Holndonner-Kirst Eszter Guly ás Gell ért Balázs Karvaly J ános Gál Csaba Gyula Hermann Source Type: research
