Results 81 to 90 of about 290,347 (229)
Treatment of Congenital Cytomegalovirus Beyond the Neonatal Period: A Single‐Arm Meta‐Analysis
The Laryngoscope, EarlyView.This systematic review and single‐arm meta‐analysis evaluated hearing outcomes following antiviral therapy initiated after the neonatal period in children with congenital cytomegalovirus infection. Across eight studies including 192 patients, post‐neonatal treatment was associated with meaningful hearing improvement and low rates of hearing ...
Thamiris D. D. Cabral +8 more
wiley +1 more source
First report of microcephaly-capillary malformations syndrome in Russia
Egyptian Journal of Medical Human Genetics, 2018 Background: Microcephaly-capillary malformation (MIC-CAP) syndrome is a newly described autosomal recessive syndrome characterized by microcephaly, multiple cutaneous capillary malformations, intractable epilepsy and profound developmental delay.
Nataliya S. Demikova +6 more
doaj +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report
São Paulo Medical JournalCONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.CASE REPORT: Our patient was a seven-year-old white ...
Rafael Fabiano Machado Rosa +8 more
doaj +1 more source
Genetic Etiologies of Dystonia with Anarthria/Aphonia
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey +7 more
wiley +1 more source
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures
The Turkish Journal of Pediatrics, 2009 Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine.
Turgay Coşkun +7 more
doaj
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Quantitative assessment of the impact of cytomegalovirus (CMV) infection on fetal brain development beyond conventional imaging remains limited. We aimed to quantify cortical gyrification and brain volumes in CMV‐exposed fetuses, compare groups with varying severities of conventional MRI findings, and evaluate postnatal outcomes ...
Or R. Sadan +14 more
wiley +1 more source
EpidemiologiaBackground/Objectives: Congenital microcephaly is a clinical manifestation with a heterogeneous etiology, and its epidemiological surveillance relies on the systematic identification of cases and investigation of their underlying causes to inform ...
Melissa Daniella Gonzalez-Fernandez +8 more
doaj +1 more source
Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
A theoretical estimate of the risk of microcephaly during pregnancy with Zika virus infection
Epidemics, 2016 Objectives: There has been a growing concern over Zika virus (ZIKV) infection, particularly since a probable link between ZIKV infection during pregnancy and microcephaly in the baby was identified.
Hiroshi Nishiura +5 more
doaj +1 more source