Results 51 to 60 of about 70,338 (285)
Requests for Abortion in Latin America Related to Concern about Zika Virus Exposure [PDF]
With the rapid emergence of Zika virus throughout Latin America and its association with microcephaly, requests for access to abortion medications through online telemedicine have increased in countries where access to safe abortion is not universally ...
Aiken, Abigail R.A. +5 more
core +3 more sources
Abstract This chapter reviews the incidence, risk factors, genetics, recurrence risk, and epidemiology of isolated and syndromic microcephaly. The differential diagnosis of microcephaly includes multiple teratogenic agents such as alcohol, hyperthermia, maternal PKU, and new and old congenital infections as well as specific chromosome ...
Robin D. Clark, Cynthia J. Curry
+5 more sources
Zika Virus Infection and Microcephaly: A Case-Control Study in Brazil
Background: Brazil presented an alarming number of newborns with microcephaly in the years 2015 and 2016. The investigation of the cases raised the suspicion of the association of these cases with maternal infections by the zika virus.
Sabrina Gabriele Maia Oliveira Rocha +8 more
doaj +1 more source
Background: The clinical manifestations of microcephaly/congenital Zika syndrome (microcephaly/CZS) have harmful consequences on the child’s health, increasing vulnerability to childhood morbidity and mortality. This study analyzes the case fatality rate
Maria Conceição N. Costa +17 more
doaj +1 more source
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea +28 more
core +2 more sources
Microcephaly, an etiopathogenic vision
Microcephaly is defined by an occipital-frontal head circumference (OFD) 2 standard deviations (SD) smaller than the average expected for age, gender and population. Its incidence has been reported between 1.3 and 150 cases per 100,000 births. Currently,
Luis Eduardo Becerra-Solano +2 more
doaj +1 more source
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair [PDF]
Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide kinase/phosphatase (PNKP), a DNA strand break repair protein with DNA 5'-kinase and DNA 3'-phosphatase ...
Alexandra K. Walker +41 more
core +1 more source
Causes of microcephaly in human—theoretical considerations
As is evident from the theme of the Research Topic “Small Size, Big Problem: Understanding the Molecular Orchestra of Brain Development from Microcephaly,” the pathomechanisms leading to mirocephaly in human are at best partially understood. As molecular
Michael Heide, Wieland B. Huttner
doaj +1 more source
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source
Citation: 'microcephaly' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10955 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Ali Qais Hasan, Moath Mohammed Madlool
+6 more sources

