Results 51 to 60 of about 1,555,906 (271)
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
BMC Gastroenterology, 2010 Background Gilbert syndrome is caused by defects in bilirubin UDP-glucuronosyltransferase (UGT1A1). The most common variation believed to be involved is A(TA)7TAA. Although several polymorphisms have been found to link with A(TA)7TAA, the combined effect
Sato Hiroshi +3 more
doaj +1 more source
Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky +5 more
wiley +1 more source
Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi +6 more
wiley +1 more source
Perioperative management of a patient with Gilberts syndrome and rheumatic heart disease
Saudi Journal of Anaesthesia, 2012 Anaesthetic management of patients with hepatic dysfunction can be quite challenging, as many anaesthetic agents are metabolized by liver. Heart disease on anti coagulation can pose additional challenge.
R V Ranjan +3 more
doaj +1 more source
Discordance Between Patient and Physician Global Assessments in Early Systemic Sclerosis
Arthritis Care &Research, EarlyView.Objective This study aims to identify factors associated with patient global assessment (PtGA) and physician global assessment (PhGA) and discordance between them in systemic sclerosis (SSc). Methods Data from adults with early SSc (<5 years) from the Collaborative National Quality and Efficacy Registry were included.
Ellen Romich +35 more
wiley +1 more source
Significance of UGT1A1*28 genotype in patients with advanced liver injury caused by chronic hepatitis C [PDF]
Journal of Medical Biochemistry, 2019 Background: Chronic hepatitis C (CHC) is a significant cause of liver related morbidity and mortality worldwide. The role of genetics in the host response to hepatitis C virus is not elucidated. Genetic variations in UGT1A1 gene are the most common cause
Jordović Jelena +13 more
doaj
The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort
Arthritis Care &Research, EarlyView.Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo +9 more
wiley +1 more source
BMC Gastroenterology, 2019 Background Gilbert syndrome (GS) is an autosomal recessive inherited disorder of bilirubin glucuronidation which has not been investigated in Egypt. This longitudinal study investigated the frequency, clinical course, genetic profile and health related ...
Sanaa Kamal +7 more
doaj +1 more source
Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)
Arthritis Care &Research, EarlyView.Objective Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures.
Kevin Byram +25 more
wiley +1 more source