The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.719
Abstract: Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited form of ataxia that leads to progressive neurodegeneration. The initial symptoms could affect clinical phenotypes in neurodegenerative diseases, such as Parkinson's disease and amyotrophic lateral sclerosis.… read more here.
Keywords: ataxia type; symptoms phenotypes; spinocerebellar ataxia; initial symptoms ... See more keywords
Relationship between initial symptoms and prognosis of patients with Covid-19
Sign Up to like & getrecommendations! Published in 2021 at "Atencion Primaria"
DOI: 10.1016/j.aprim.2021.102146
Abstract: Objective Aims to describe the initial symptoms most related to the prognosis of Covid-19. Design This is a retrospective cross sectional, quantitative, data analyzed study. Site This study was made in the family medicine centers… read more here.
Keywords: malaise loss; medicine; prognosis; smell taste ... See more keywords
Age and Symptoms at Onset of Ankylosing Spondylitis in Japanese Patients.
Sign Up to like & getrecommendations! Published in 2022 at "Modern rheumatology"
DOI: 10.1093/mr/roac081
Abstract: OBJECTIVE To examine the age at onset and initial symptoms as clinical features of ankylosing spondylitis (AS) in Japanese patients. METHODS This retrospective study included 60 Japanese patients diagnosed with AS at our institute between… read more here.
Keywords: japanese patients; initial symptoms; extra axial; age ... See more keywords
Unraveling the role of relative telomere length and CAG expansion on initial symptoms of juvenile Huntington disease
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Neurology"
DOI: 10.1111/ene.15644
Abstract: Juvenile‐onset Huntington disease (JHD) is defined when symptoms initiate before 20 years of age. Mechanisms explaining differences between juvenile and adult onset are not fully understood. Our aim was to analyze the distribution of initial symptoms… read more here.
Keywords: telomere length; huntington disease; initial symptoms; cag expansion ... See more keywords
Recognizing Hereditary TTP in Infants and Children
Sign Up to like & getrecommendations! Published in 2020 at "Blood"
DOI: 10.1182/blood-2020-133918
Abstract: Recognition of hereditary disorders in newborn infants and early childhood is critical for anticipating and preventing adverse outcomes. Hereditary thrombotic thrombocytopenic purpura (HTTP) is caused by biallelicADAMTS13mutations. Absence of ADAMTS13 results in circulation of ultra-large… read more here.
Keywords: diagnosis; age; adamts13 activity; http ... See more keywords