Results 171 to 180 of about 386,838 (366)
Epilepsia Open, EarlyView.Abstract Objective Dravet syndrome is a developmental and epileptic encephalopathy characterized by drug‐resistance, lifelong seizures, and significant comorbidities including intellectual and motor impairment. Receiving a diagnosis of Dravet syndrome is challenging for parents/caregivers, and little research has focused on how the diagnosis should be ...
Andreas Brunklaus +9 more
wiley +1 more source
Epilepsy syndromes classification
Epilepsia Open, EarlyView.Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell +4 more
wiley +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Learning Health Systems, Volume 7, Issue 1, January 2023., 2023 Abstract Introduction Improving peri‐ and postnatal facility‐based care in low‐resource settings (LRS) could save over 6000 babies' lives per day. Most of the annual 2.4 million neonatal deaths and 2 million stillbirths occur in healthcare facilities in LRS and are preventable through the implementation of cost‐effective, simple, evidence‐based ...
Michelle Heys +16 more
wiley +1 more source
Exploration, EarlyView.The monkeypox virus (MPXV) has spread to many countries and caused thousands of infections all over the world. This review comprehensively introduces the biology, epidemiological characteristics of MPXV, and clinical manifestations of Mpox. The approaches for diagnosis, treatment, and prevention are also introduced, aiming to improve the general ...
Lin Jiang +15 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023 This work describes our cross‐disciplinary experience identifying and evaluating 12 patients for clinical, biochemical, and familial features of Hypophosphatasia (HPP) from a retrospective database review of expanded carrier screening (ECS) results in our center.
Natalie M. Beck +9 more
wiley +1 more source
Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios
Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023 The overall detection rate of clinically significant findings was 8%, with 5.0% in the isolated group and 11.0% in non‐isolated group. Non‐isolated group especially oligohydramnios subgroup is inclined to obtained more pathogenicity genetic anomalies and to terminate their pregnancy outcome.
Panlai Shi +5 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023 Trio‐based whole‐exome sequencing (WES) and Sanger sequencing identified a novel splicing mutation c.431‐2A>G and a heterozygous truncating mutation c.1359_1361del in BRAT1 in the proband. In addition, our research demonstrated the intronic mutation could lead to aberrant mRNA splicing and further contributed to a better understanding and establishment
Shan Li +5 more
wiley +1 more source
The International Journal of Health Planning and Management, EarlyView.ABSTRACT Artificial Intelligence (AI) has emerged as a transformative force in healthcare, offering significant potential to address workforce challenges and improve patient outcomes. This perspective article presents a framework for responsible AI innovation, emphasising ethical governance, responsible leadership and a commitment to human‐centred AI ...
Abi Sriharan +6 more
wiley +1 more source
Nursing Open, Volume 10, Issue 2, Page 649-657, February 2023., 2023 Abstract Aim We analysed whether immediate skin‐to‐skin contact between the healthy newborn and the mother after a caesarean section has a modulatory role on postpartum haemorrhage and uterine contraction. Design Unblinded, randomized clinical trial, simple random sampling, conducted in women undergoing caesarean sections.
José Miguel Pérez‐Jiménez +4 more
wiley +1 more source