ALLMedicine™ Microcephaly Center

Sep 26th, 2021 - NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, s...

Sep 25th, 2021 - CTNNB1-related disorder is an autosomal dominant neurodevelopmental disorder characterized by a variable degree of cognitive impairment, microcephaly, truncal hypotonia, peripheral spasticity, visual defects, and dysmorphic features. In this case ...

Sep 24th, 2021 - To describe clinical characteristics, outcomes and causes of microcephaly in children whose condition was identified within the first year of life. Retrospective review of medical records of microcephalic children born between 2008 and 2018 and ad...

Sep 22nd, 2021 - The highly conserved YrdC domain-containing protein (YRDC) interacts with the well-described KEOPS complex, regulating specific tRNA modifications to ensure accurate protein synthesis. Previous studies have linked the KEOPS complex to a role in pr...

Sep 22nd, 2021 - Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and desc...

Feb 16th, 2018 - To review the principles of prenatal diagnosis of congenital cytomegalovirus (CMV) infection and to describe the outcomes of the affected pregnancies. Effective management of fetal infection following primary and secondary maternal CMV infection d...

Nov 19th, 2017 - Congenital microcephaly: Case definition & guidelines for data collection, analysis, and presentation of safety data after maternal immunisation.|2017|DeSilva M,Munoz FM,Sell E,Marshall H,Tse Kawai A,|standards,standards,epidemiology,adverse effects,

Jan 25th, 2013 - One of the major consequences of pregnant women becoming infected by Toxoplasma gondii is vertical transmission to the fetus. Although rare, congenital toxoplasmosis can cause severe neurological or ocular disease (leading to blindness), as well a...

Sep 16th, 2009 - To make evidence-based recommendations concerning the evaluation of the child with microcephaly. Relevant literature was reviewed, abstracted, and classified. RECOMMENDATIONS were based on a 4-tiered scheme of evidence classification. Microcephaly...

Jun 18th, 2021 - Formal diagnosis of foetal alcohol syndrome (FAS) is rarely made by UK paediatricians - possibly reflecting a lack of confidence in making the diagnosis - limiting treatment and better outcomes for these children, shows a study presented at this w...

Sep 17th, 2020 - NEW YORK (Reuters Health) - Congenital cytomegalovirus (CMV) is associated with a markedly increased prevalence of microcephaly at birth, according to a database study. "Congenital cytomegalovirus is an important cause of microcephaly in the Unite...

Sep 17th, 2020 - NEW YORK (Reuters Health) - Congenital cytomegalovirus (CMV) is associated with a markedly increased prevalence of microcephaly at birth, according to a database study. "Congenital cytomegalovirus is an important cause of microcephaly in the Unite...

Aug 31st, 2020 - In 2020, "the virus" has come to mean one thing: SARS-CoV-2. But just a few years ago, Zika had the world's attention, as one news report after another described children with microcephaly born to women who'd been infected while pregnant. It can b...

Aug 31st, 2020 - In 2020, "the virus" has come to mean one thing: SARS-CoV-2. But just a few years ago, Zika had the world's attention, as one news report after another described children with microcephaly born to women who'd been infected while pregnant. It can b...