Results 71 to 80 of about 290,347 (229)
From Interferon Signature to the Clinical Landscape: Type I Interferonopathies
Arthritis &Rheumatology, EarlyView.Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz +13 more
wiley +1 more source
Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management. [PDF]
, 2017 Microcephaly is an important sign of neurological malformation and a predictor of future disability. The 2015-16 outbreak of Zika virus and congenital Zika infection brought the world's attention to links between Zika infection and microcephaly. However,
Abubakar, Ibrahim +35 more
core +1 more source
, 2022 This systematic review aimed to identify the pathogens causing or associated with congenital microcephaly in Brazil in the last 20 years due to the lack of official information by the Health Authorities and, as a consequence the uncertainty on the real ...
Bueno, Arnaldo Costa +5 more
core +1 more source
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
, 2018 Post-void residual measured during urodynamic study in 22 consecutive patients with Congenital Zika Syndrome and microcephaly.
Lucia Maria Costa Monteiro (4904017) +6 more
core +1 more source
Cryptorchidism in Children with Zika-Related Microcephaly. [PDF]
, 2020 The genitourinary tract was recently identified as a potential site of complications related to the congenital Zika syndrome (CZS). We provide the first report of a series of cryptorchidism cases in 3-year-old children with Zika-related microcephaly who ...
Ximenes, Ricardo A. A. +17 more
core +1 more source
Epileptic Disorders, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry +23 more
wiley +1 more source
, 2017 ObjectiveWe assessed baseline prevalence, risk factors and outcomes of microcephaly in a large population of neonates.DesignRetrospective cohort study.SettingAll hospitals in the province of Quebec, Canada.Participants794 microcephalic and 1 944 010 non ...
Caroline Quach +4 more
core +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source