Results 41 to 50 of about 524,540 (290)

Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number

International Journal of Neonatal Screening, 2021
Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS).
Binod Kumar, Samantha Barton, Jolanta Kordowska, Roger B. Eaton, Anne M. Counihan, Jaime E. Hale, Anne Marie Comeau   +6 more
doaj   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Initial supplementary oxygen concentration for moderate-late preterm infants receiving respiratory support in the delivery room: statistical analysis plan for the multicenter, cluster-randomized crossover AIROPLANE Trial

Trials
Background Moderate-late preterm infants born at 32–35 completed weeks’ gestation constitute a large proportion of all preterm births (
Stacey Peart, Brett J. Manley, Cecilia Moore, Jeanie L. Y. Cheong, Ju Lee Oei, Li Huang, Peter G. Davis, Louise S. Owen, Anneke Grobler   +8 more
doaj   +1 more source

Accuracy of lung ultrasound for the prediction of bronchopulmonary dysplasia in the newborn: a meta-analysis [PDF]

, 2021
Xiaojiao Qin, Ningxin Luo, Sun Ying-hua, xiaobo Zhang   +3 more
openalex   +1 more source

In‐Depth Profiling Highlights the Effect of Efgartigimod on Peripheral Innate and Adaptive Immune Cells in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin, Liu Dong, Ying Wang, Dingxian He, Chong Yan, Jianying Xi, Haoqin Jiang, Yu Shi, Ming Guan, Chongbo Zhao, Jie Song, Sushan Luo   +11 more
wiley   +1 more source

Understanding cause of stillbirth: a prospective observational multi-country study from sub-Saharan Africa

BMC Pregnancy and Childbirth, 2019
Background Every year, an estimated 2.6 million stillbirths occur worldwide, with up to 98% occurring in low- and middle-income countries (LMIC). There is a paucity of primary data on cause of stillbirth from LMIC, and particularly from sub-Saharan ...
Mamuda Aminu, Sarah Bar-Zeev, Sarah White, Matthews Mathai, Nynke van den Broek   +4 more
doaj   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Using electronic tablets for data collection for healthcare service and maternal health assessments in low resource settings: lessons learnt

BMC Health Services Research, 2019
Background Health service and health outcome data collection across many low- and middle-income countries (LMICs) is, to date largely paper-based. With the development and increased availability of reliable technology, electronic tablets could be used ...
Fiona M. Dickinson, Mary McCauley, Barbara Madaj, Nynke van den Broek   +3 more
doaj   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

A Pregnancy Case of Primary Mediastinal Large B Cell Lymphoma with Superior Vena Cava Syndrome

Case Reports in Obstetrics and Gynecology, 2021
Primary mediastinal large B cell lymphoma (PMLBCL) is a subtype of non-Hodgkin’s lymphoma which presents rarely in pregnancy. It is an aggressive tumour that is associated with symptoms of superior vena cava (SVC) compression and airway compromise such ...
Lauren Brownhalls, Ann Gillett, Yasmin Whately, Keisuke Tanaka   +3 more
doaj   +1 more source