Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.
Sign Up to like & getrecommendations! Published in 2020 at "Metabolic brain disease"
DOI: 10.1007/s11011-020-00632-0
Abstract: Glutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenase activity due to GCDH gene mutations. In this study, we report 24 symptomatic GA-1 Brazilian patients, and… read more here.
Keywords: clinical biochemical; biochemical molecular; gcdh gene; molecular findings ... See more keywords
Lipid and metabolite correlation networks specific to clinical and biochemical covariate show differences associated with sexual dimorphism in a cohort of nonagenarians.
Sign Up to like & getrecommendations! Published in 2021 at "GeroScience"
DOI: 10.1007/s11357-021-00404-3
Abstract: This study defines and estimates the metabolite-lipidic component association networks constructed from an array of 20 metabolites and 114 lipids identified and quantified via NMR spectroscopy in the serum of a cohort of 355 Italian… read more here.
Keywords: clinical biochemical; cohort; lipid metabolite; correlation networks ... See more keywords
Isolated DHEAS production by an adrenal neoplasm: Clinical, biochemical and pathologic characteristics
Sign Up to like & getrecommendations! Published in 2020 at "Urology Case Reports"
DOI: 10.1016/j.eucr.2020.101148
Abstract: Androgen-secreting adrenal neoplasms have a low incidence, usually secrete multiple hormones, and may present with hirsutism, acne, and alopecia. We report an exceedingly rare case of a purely dehydroepiandrosterone-sulfate (DHEA-S) secreting adrenal neoplasm found incidentally… read more here.
Keywords: adrenal neoplasm; clinical biochemical; isolated dheas; dheas production ... See more keywords
Clinical, biochemical and serological predictors of DRESS syndrome: a prospective case-control study.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of the American Academy of Dermatology"
DOI: 10.1016/j.jaad.2021.03.075
Abstract: BACKGROUND Although detailed scoring systems like RegiSCAR DRESS validation score are available to diagnose DRESS syndrome, a rapid and easily applicable tool to identify DRESS at presentation is lacking. OBJECTIVE To identify the clinical, biochemical… read more here.
Keywords: dress syndrome; clinical biochemical; serological predictors; study ... See more keywords
An unusual myopathy with dual pathology: Case report
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2019.10.1446
Abstract: Immune-mediated necrotising myopathy (IMNM) and inclusion body myositis (IBM) belong to a spectrum of conditions called the idiopathic inflammatory myopathies. However, they both represent distinct conditions, which differ in their clinical presentation, immuno-pathogenesis and in… read more here.
Keywords: clinical biochemical; muscle; case; pathology ... See more keywords
Clinical and biochemical differences between hantavirus infection and leptospirosis: a retrospective analysis of a patient series in Belgium
Sign Up to like & getrecommendations! Published in 2019 at "Acta Clinica Belgica"
DOI: 10.1080/17843286.2019.1591654
Abstract: ABSTRACT Objectives: Hantavirus infection and leptospirosis are infectious diseases transmitted by rodents. The clinical picture is nonspecific, often involving the kidneys but other organs can be affected too. Clinical and biochemical clues to make a… read more here.
Keywords: infection leptospirosis; clinical biochemical; hantavirus infection; leptospirosis ... See more keywords
Adrenal ablation versus mineralocorticoid receptor antagonism for the treatment of primary aldosteronism: A single-center prospective cohort study.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of hypertension"
DOI: 10.1093/ajh/hpac105
Abstract: BACKGROUND Superselective adrenal arterial embolization (SAAE) is an alternative treatment for patients with primary aldosteronism. This single-center prospective cohort study aimed to compare the efficacy of SAAE with mineralocorticoid receptor antagonists (MRA) in treating primary… read more here.
Keywords: single center; aldosteronism single; clinical biochemical; primary aldosteronism ... See more keywords
Association Between the Clinical, Biochemical, and Endoscopic Activity of Inflammatory Bowel Diseases and Severity and Long-term Outcomes of Coronavirus Disease 2019—A Population-based Study
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DOI: 10.1093/ibd/izac052
Abstract: Lay Summary This brief report investigated the impact of clinical, biochemical, and endoscopic activity of IBD on the severity and long-term outcomes of COVID-19 in a prospective population-based cohort. The study did not identify any… read more here.
Keywords: long term; endoscopic activity; clinical biochemical; severity long ... See more keywords
Clinical, biochemical, and genetic aspects of Sjögren‐Larsson syndrome
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DOI: 10.1111/cge.13058
Abstract: Sjögren‐Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long‐chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various… read more here.
Keywords: clinical biochemical; larsson syndrome; genetic aspects; gren larsson ... See more keywords
The clinical, biochemical, and ultrasonographic characteristics of patients with hidradenitis suppurativa in Northern Peninsular Malaysia: a multicenter study
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Dermatology"
DOI: 10.1111/ijd.14210
Abstract: Hidradenitis suppurativa (HS) is a chronic, recurrent, inflammatory disorder of follicular occlusion, resulting in abscesses with tunnel formation and severe scarring. Our objectives were to identify the clinical patterns and the prevalence of metabolic syndrome… read more here.
Keywords: biochemical ultrasonographic; clinical biochemical; patients hidradenitis; characteristics patients ... See more keywords
Clinical and biochemical characterization of the prothrombin Belgrade mutation in a large Serbian pedigree: new insights into the antithrombin resistance mechanism
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.13618
Abstract: Essentials Prothrombin Belgrade mutation leads to antithrombin resistance. Clinical and biochemical phenotypes in a large family with this mutation were investigated. In carriers, we detected decreased factor II activity and increased endogenous thrombin potential. Prothrombin… read more here.
Keywords: clinical biochemical; antithrombin resistance; prothrombin belgrade; belgrade mutation ... See more keywords