Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.
Sign Up to like & getrecommendations! Published in 2023 at "Annals of clinical and translational neurology"
DOI: 10.1002/acn3.51794
Abstract: OBJECTIVE Leukoencephalopathies are a group of heterogeneous disorders characterized by the degeneration of white matter, resulting in a variety of progressive neurological symptoms. To date, over 60 genes linked to genetic leukoencephalopathies have been discovered… read more here.
Keywords: genetic spectrum; spectrum clinical; adult leukoencephalopathies; different populations ... See more keywords
Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1583
Abstract: Rare studies focused on the tandem mass spectrometry (MS/MS) findings for the primary carnitine deficiency (PCD) in the neonates in China mainland. In this study, we aim to analyze the gene mutation spectrum of PCD… read more here.
Keywords: spectrum clinical; primary carnitine; carnitine deficiency; gene spectrum ... See more keywords
Assessing the effects of modeling the spectrum of clinical symptoms on the dynamics and control of Ebola.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of theoretical biology"
DOI: 10.1016/j.jtbi.2019.01.013
Abstract: Mathematical modelers have attempted to capture the dynamics of Ebola transmission and to evaluate the effectiveness of control measures, as well as to make predictions about ongoing outbreaks. Many of their models consider only infections… read more here.
Keywords: reproduction number; clinical symptoms; spectrum clinical; basic reproduction ... See more keywords
The spectrum of clinical biomarkers in severe malaria and new avenues for exploration
Sign Up to like & getrecommendations! Published in 2022 at "Virulence"
DOI: 10.1080/21505594.2022.2056966
Abstract: ABSTRACT Globally, malaria is a public health concern, with severe malaria (SM) contributing a major share of the disease burden in malaria endemic countries. In this context, identification and validation of SM biomarkers are essential… read more here.
Keywords: clinical biomarkers; biomarkers severe; severe malaria; validation biomarkers ... See more keywords
Quantifying a spectrum of clinical response in atrial tachyarrhythmias using spatiotemporal synchronization of electrograms
Sign Up to like & getrecommendations! Published in 2023 at "Europace"
DOI: 10.1093/europace/euad055
Abstract: Abstract Aims There is a clinical spectrum for atrial tachyarrhythmias wherein most patients with atrial tachycardia (AT) and some with atrial fibrillation (AF) respond to ablation, while others do not. It is undefined if this… read more here.
Keywords: atrial tachyarrhythmias; clinical response; termination; spectrum clinical ... See more keywords
MO846THE SPECTRUM OF CLINICAL AND SEROLOGICAL FEATURES OF COVID-19 IN URBAN HEMODIALYSIS PATIENTS
Sign Up to like & getrecommendations! Published in 2021 at "Nephrology Dialysis Transplantation"
DOI: 10.1093/ndt/gfab098.0038
Abstract: Abstract Background and Aims The inherent immunosuppression of uremia increases the susceptibility of hemodialysis patients to infection. There is still limited evidence on hemodialysis patients and COVID-19. The clinical and analytical spectrum and treatment responses… read more here.
Keywords: hemodialysis; mo846the spectrum; pcr negative; spectrum clinical ... See more keywords
Aetiological spectrum, clinical differentiation and efficacy of polyethylene glycol over lactulose in children with constipation: Experience of 316 cases
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.14099
Abstract: To find the aetiological spectrum, clinical features to differentiate organic from functional constipation (FC) and the efficacy of polyethylene glycol (PEG) over lactulose in the treatment of childhood constipation. read more here.
Keywords: efficacy polyethylene; aetiological spectrum; spectrum clinical; polyethylene glycol ... See more keywords
Spectrum of Clinical Features in XL-MTM Carriers: An International Questionnaire Study.
Sign Up to like & getrecommendations! Published in 2021 at "Neurology"
DOI: 10.1212/wnl.0000000000012236
Abstract: OBJECTIVE To characterize the spectrum of clinical features in a cohort of X-linked myotubular myopathy (XL-MTM) carriers, including prevalence, genetic features, clinical symptoms and signs, as well as associated disease burden. METHODS We performed a… read more here.
Keywords: questionnaire study; clinical features; manifesting carriers; spectrum clinical ... See more keywords
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "PLoS ONE"
DOI: 10.1371/journal.pone.0237999
Abstract: Hyper-IgD syndrome (HIDS, OMIM #260920) is a rare autosomal recessive autoinflammatory disorder caused by pathogenic variants in the mevalonate kinase (MVK) gene. HIDS has an incidence of 1:50,000 to 1:5,000, and is thought to be… read more here.
Keywords: mvk gene; mevalonate kinase; kinase mvk; variants mevalonate ... See more keywords