Results 91 to 100 of about 947,842 (267)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Identifying miR-431-5p as a promising candidate biomarker for early-onset severe preeclampsia through integrated bioinformatic and clinical analyses: a retrospective study [PDF]
PeerJBackground Early-onset severe preeclampsia (EOSPE) is a serious pregnancy complication associated with adverse maternal and neonatal outcomes. This study aimed to identify potential diagnostic biomarkers for EOSPE and to investigate their clinical ...
Jianxin Zhang +8 more
doaj +2 more sources
Hyperparathyroidism in Pregnancy
Obstetrical & Gynecological Survey, 1979 Summary Primary hyperparathyroidism in pregnancy is uncommon and easily overlooked. It is associated with a complication rate of up to 80 per cent—mainly stillbirths, abortions and neonatal tetany. Surgical treatment during pregnancy offers the best chance for fetal and neonatal survival.
R, Salem, S, Taylor
openaire +2 more sources
Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane +19 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Collaterals are crucial factors that influence the infarct growth rate (IGR). We aimed to determine whether a comprehensive multimodal collateral score (MCS), incorporating collateral assessment at the arterial, tissue, and venous levels, is associated with functional independence and provides incremental prognostic value over ...
Giorgio Busto +12 more
wiley +1 more source
Health ExpectationsIntroduction Involving knowledge users in research can facilitate the translation of evidence into policy and practice. How to best involve and support various types of knowledge users, including patient and public involvement contributors, in research ...
Marita Hennessy +4 more
doaj +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 +23 more
wiley +1 more source
Efficacy of Inebilizumab in N‐MOmentum Trial Participants With or Without Prior Immunosuppressants
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This post hoc analysis examined the impact of prior immunosuppressants on the long‐term efficacy and safety of inebilizumab, a cluster of differentiation 19+ B‐cell–depleting monoclonal antibody, in participants with aquaporin‐4–seropositive neuromyelitis optica spectrum disorder from the N‐MOmentum trial (NTC02200770).
Bruce A. C. Cree +9 more
wiley +1 more source
Health ExpectationsBackground Recurrent miscarriage (RM) and infertility are separately associated with psychological distress and adverse pregnancy outcomes. The dual experience is devastating for women/couples but is not considered in clinical guidance for RM or ...
Laura Aoife Linehan +2 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source