Nonhealing Genital Ulcers as Clue to a Multisystem Disease.
Sign Up to like & getrecommendations! Published in 2023 at "JAMA dermatology"
DOI: 10.1001/jamadermatol.2022.5863
Abstract: A female patient in her late 40s presented with a 3-year history of nonhealing ulcers in her groin and axillae. What is your diagnosis? read more here.
Keywords: ulcers clue; multisystem disease; nonhealing genital; dermatology ... See more keywords
MLASA1 is a poly-phenic but not a di-phenic condition
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100538
Abstract: With interest we read the article by Woods et al. about two brothers aged 37y and 35y with MLASA due to the novel variant c.302A>G in PUS1.[1] The two patients presented, in addition to myopathy… read more here.
Keywords: poly phenic; phenic condition; mlasa1; mlasa1 poly ... See more keywords
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease
Sign Up to like & getrecommendations! Published in 2019 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy344
Abstract: Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively. We report seven related children homozygous for a… read more here.
Keywords: disease; synthetase yars; trna synthetase; tyrosyl trna ... See more keywords
Obesity as a multisystem disease: Trends in obesity rates and obesity‐related complications
Sign Up to like & getrecommendations! Published in 2021 at "Diabetes"
DOI: 10.1111/dom.14290
Abstract: Obesity is a chronic multisystem disease associated with increased morbidity and mortality. The increasing prevalence of obesity makes it a major healthcare challenge across both developed and developing countries. Traditional measures such as body mass… read more here.
Keywords: obesity; weight loss; multisystem disease; disease ... See more keywords
Mycoplasma pneumoniae-associated diffuse alveolar haemorrhage: an atypical presentation of a prevalent pathogen
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-248273
Abstract: A transgender man in his late teens presented with signs of multisystem disease, including hepatitis, mucositis and bone marrow suppression. He later developed dyspnoea, leucocytosis and bilateral pulmonary infiltrates on chest radiograph. He was treated… read more here.
Keywords: alveolar haemorrhage; presentation; multisystem disease; mycoplasma pneumoniae ... See more keywords