نتایج جستجو برای: biotinidase
تعداد نتایج: 922 فیلتر نتایج به سال:
BACKGROUND AND OBJECTIVES There are conflicting views as to whether testing for biotinidase deficiency (BD) ought to be incorporated into universal newborn screening (NBS) programs. The aim of this study was to evaluate the cost-effectiveness of adding BD to the panel of conditions currently screened under the national NBS program in Spain. METHODS We used information from the regional NBS pr...
Late presentation (LP) for HIV care across Europe remains a significant issue. We provide a cross-European update from 34 countries on the prevalence and risk factors of LP for 2010-2013. People aged ≥ 16 presenting for HIV care (earliest of HIV-diagnosis, first clinic visit or cohort enrollment) after 1 January 2010 with available CD4 count within six months of presentation were included. LP w...
Addiction theories posit that addiction is the result of a progressive transition from voluntary to habitual, compulsive drug use-changes that have been linked, in animals, to a shift from ventral to dorsal striatal control over drug-seeking behavior. Thus, we hypothesized that early-onset (EOs) cannabis users versus late-onset (LOs) cannabis users might exhibit, respectively, greater dorsal ve...
Rare non-synonymous variants of TREM2 have recently been shown to be associated with Alzheimer's disease (AD) in Caucasians. We here conducted a replication study using a well-characterized Japanese sample set, comprising 2,190 late-onset AD (LOAD) cases and 2,498 controls. We genotyped 10 non-synonymous variants (Q33X, Y38C, R47H, T66M, N68K, D87N, T96K, R98W, H157Y, and L211P) of TREM2 report...
Reproducibility of Gadolinium Enhancement Patterns and Wall Thickness in Hypertrophic Cardiomyopathy
BACKGROUND Reproducibility data of the extent and patterns of late gadolinium enhancement (LGE) in hypertrophic cardiomyopathy (HCM) is limited. OBJECTIVE To explore the reproducibility of regional wall thickness (WT), LGE extent, and LGE patterns in patients with HCM assessed with cardiac magnetic resonance (CMR). METHODS The extent of LGE was assessed by the number of segments with LGE, a...
Rituximab (RTX) is a monoclonal chimeric antibody directed against the CD20 antigen of B lymphocytes. Late onset neutropenia (LON) is a recognised complication of rituximab usually occurring 4 weeks after the last dose and is reported in both haematological and rheumatological conditions. However, it has never been described in a patient with myositis and systemic sclerosis overlap disease. We ...
In the northeastern United States, many vertebrate species rely on early successional forest habitats (ESHs). ESHs may also support higher invertebrate diversity and abundance than late successional habitats (LSHs). We assessed the differences in family-level richness and biomass of understory terrestrial invertebrates during the summer season in paired ESH (3–7 years since harvest) and LSH ( 5...
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