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Phenotypes of undiagnosed adults with actionable < em > OTC < /em > and < em > GLA < /em > variants
HGG Adv. 2023 Jul 29;4(4):100226. doi: 10.1016/j.xhgg.2023.100226. eCollection 2023 Oct 12.ABSTRACTInherited metabolic disorders (IMDs) are variably expressive, complicating identification of affected individuals. A genotype-first approach can identify individuals at risk for morbidity and mortality from undiagnosed IMDs and can lead to protocols that improve clinical detection, counseling, and management. Using data from 57,340 participants in two hospital biobanks, we assessed the frequency and phenotypes of individuals with pathogenic/likely pathogenic variants (PLPVs) in two IMD genes: GLA, associated with Fabry diseas...
Source: Adv Data - August 18, 2023 Category: Epidemiology Authors: Jessica I Gold Sarina Madhavan Joseph Park Hana Zouk Emma Perez Alanna Strong Theodore G Drivas Amel Karaa Marc Yudkoff Daniel Rader Regeneron Genetics Center Penn Medicine BioBank Robert C Green Nina B Gold Source Type: research

Serum neurofilament light chain, brain infarcts, and the risk of stroke: a prospective population-based cohort study
AbstractNeurofilament light chain (NfL), a neuron-specific protein, has been related to several neurodegenerative diseases. In addition, elevated levels of NfL have also been observed in patients admitted to the hospital for stroke, suggesting that NfL as a biomarker may extend well beyond neurodegenerative diseases. Therefore, using data from the Chicago Health and Aging Project (CHAP), a population-based cohort study, we prospectively investigated the association of serum NfL levels with incident stroke and brain infarcts. During a follow-up of 3603 person-years, 133 (16.3%) individuals developed incident stroke, includi...
Source: European Journal of Epidemiology - March 3, 2023 Category: Epidemiology Source Type: research

Surveillance for Sickle Cell Disease - Sickle Cell Data Collection Program, Two States, 2004-2018
This report is the first comprehensive description of CDC's efforts in collaboration with participating states to establish, maintain, and expand SCD surveillance through the SCDC program to improve health outcomes for persons living with SCD. Findings from California and Georgia analyses highlighted a need for additional SCD specialty clinics. Despite different approaches, expansion of SCDC to multiple states was possible using standardized, rigorous methods developed across all participating states for reporting on disease prevalence, health care needs and use, and deaths.PUBLIC HEALTH ACTION: Findings from surveillance ...
Source: MMWR Surveill Summ - October 6, 2022 Category: Epidemiology Authors: Angela B Snyder Sangeetha Lakshmanan Mary M Hulihan Susan T Paulukonis Mei Zhou Sophia S Horiuchi Karon Abe Shammara N Pope Laura A Schieve Source Type: research

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