Results 61 to 70 of about 510,747 (317)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

BronQ Family: assessing the long-term impact of Bronchopulmonary Dysplasia on affected families' health-related quality of life – protocol of a multi-country study

BMJ Paediatrics Open
Introduction Bronchopulmonary Dysplasia (BPD) is a frequent chronic complication of preterm birth. While clinical outcomes have been widely studied, evidence on the long-term impact on parents and caregivers – particularly beyond early childhood and ...
Silke Mader, Ayse Düzenli, Christina Tischer, Ilona Trautmannsberger, Vanessa Wydrin, Lara Breunig, Julia Feiler   +6 more
doaj   +1 more source

Reducing neonatal mortality in rural Ghana: understanding current newborn care practices and their cultural context [PDF]

Dramatic improvements have been made in child survival over the last 30 years. However, despite the gains of the child survival revolution, neonatal mortality rates have stagnated as infant and child mortality has decreased. Every year 4 million newborns
Bazzano, Alessandra Nina
core   +1 more source

Routine examination of the newborn: the EMREN study. Evaluation of an extension of the midwife role including a randomised controlled trial of appropriately trained midwives and paediatric senior house officers. [PDF]

, 2004
OBJECTIVES: To assess the implications and cost-effectiveness of extending the role of midwives to include the routine (24-hour) examination of the healthy newborn usually carried out by junior doctors. DESIGN: The study included a prospective randomised
Tomlin, M., J Townsend, C Rogers, Bloomfield, L., Wolke, D., Townsend, J., J Hayes, Rogers, C, Davé, S, D Messer, E Quist-Therson, Quist-Therson, E, Hayes, J., Quist-Therson, E., Hayes, J, Townsend, J, Rogers, C., L Bloomfield, Messer, D, D Wolke, Wolke, Dieter, Wolke, D, Dave, S., S Davé, Tomlin, M, M Tomlin, Bloomfield, L, Messer, D.   +27 more
core   +1 more source

Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

, 2021
Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of ...
Estrella, Elicia, Abbott, Mary-Alice, Hay, Beverly N., Swoboda, Kathryn J., Gerstel-Thompson, Jacalyn L., Counihan, Anne M., Chen, Jin Yun Helen, Sahai, Inderneel, Hale, Jaime E, Comeau, Anne Marie, Darras, Basil T., Kumar, Binod, Eaton, Roger B.   +12 more
core   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Pilot programs in newborn screening

, 2012
The term "pilot study" has been used over the years to describe the evaluation of the many elements involved in deciding whether a proposed condition should be added to a newborn screening (NBS) panel, and until recently, was unilaterally used to ...
Sherwin, John, Pass, Kenneth, Lorey, Fred, Comeau, Anne Marie, Green, Nancy S.   +4 more
core   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source