Results 111 to 120 of about 3,396,540 (313)

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source

Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program

, 2013
OBJECTIVE: The objective of this study is to develop an isotope dilution liquid chromatography tandem mass spectrometry assay to screen for hepatorenal tyrosinemia (HT) from newborn filter paper samples using pooled extracts to increase high throughput ...
Odewale, Adedoyin, Fitzgerald, Eileen F., Johnson, Donna M., Zytkovicz, Thomas H., Sahai, Inderneel, Rush, Amii, Britton, Deborah, Eaton, Roger B.   +7 more
core   +1 more source

Charter of the Kansas Advisory Council on Newborn Screening [2008]

, 2008
"Effective Date: May 15, 2008.""The mission of the Kansas Advisory Council on Newborn Screening (KACNS) is to advise the Kansas Department of Health and Environment (KDHE) on the establishment of a comprehensive, quality system for ...
Kansas Advisory Council on Newborn Screening.
core   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Weighing the evidence for newborn screening for early-infantile Krabbe disease

, 2012
PURPOSE: To summarize the evidence regarding screening, diagnosis, and treatment of early-infantile Krabbe disease in consideration of its addition to the core panel for newborn screening as has been done in New York state.
Perrin, James M., Metterville, Danielle R., Knapp, Alixandra A., Kemper, Alex R., Comeau, Anne Marie, Green, Nancy S.   +5 more
core   +1 more source

Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows

International Journal of Neonatal Screening
The Connecticut Newborn Screening (NBS) Network, in partnership with the Connecticut Department of Public Health, strategically utilized the Epic electronic health record (EHR) system to establish registries for tracking long-term follow-up (LTFU) of NBS
Katherine Raboin, Debra Ellis, Ginger Nichols, Marcia Hughes, Michael Brimacombe, Karen Rubin   +5 more
doaj   +1 more source

Real‐World Trends in Prenatal Antirheumatic Drug Utilization in Ontario, Canada: A Cross‐Sectional Time‐Series Analysis

Arthritis Care &Research, EarlyView.
Objective This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah, Swaleh Hussain, Sara J. T. Guilcher, Lisa M. McCarthy, Dharini Mahendira, Howard Berger, Mina Tadrous   +6 more
wiley   +1 more source

Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review

, 2016
BACKGROUND: The Department of Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children ("Advisory Committee") makes recommendations to the HHS Secretary regarding addition of new conditions to the national ...
Grosse, Scott D., Tanksley, Susan, Prosser, Lisa A., Kemper, Alex R., Goldenberg, Aaron J., Comeau, Anne Marie, Green, Nancy S., Ojodu, Jelili, Botkin, Jeffrey R.   +8 more
core   +1 more source

Data in support for the measurement of heparan sulfate and dermatan sulfate by LC–MS/MS analysis

Data in Brief, 2018
This article provides supplementary data for the paper “LC–MS/MS method for simultaneous quantification of heparan sulfate and dermatan sulfate in urine by butanolysis derivatization” (Forni et al., 2018).
Giulia Forni, Sabrina Malvagia, Silvia Funghini, Emanuela Scolamiero, Massimo Mura, Maria Della Bona, Fabio Villanelli, Roberta Damiano, Giancarlo la Marca   +8 more
doaj   +1 more source