Results 21 to 30 of about 49,640 (282)

Prevalence of congenital microcephaly and its risk factors in an area at risk of Zika outbreaks

BMC Pregnancy and Childbirth, 2021
Background Prevalence of neonatal microcephaly in populations without Zika-epidemics is sparse. The study aimed to report baseline prevalence of congenital microcephaly and its relationship with prenatal factors in an area at risk of Zika outbreak ...
Songying Shen, Wanqing Xiao, Lifang Zhang, Jinhua Lu, Anna Funk, Jianrong He, Si Tu, Jia Yu, Li Yang, Arnaud Fontanet, Wei Bao, Kar Keung Cheng, Xiu Qiu   +12 more
doaj   +1 more source

Identification of a novel KIF11 variant p.(Leu804Thrfs Ter13) in a case with isolated microcephaly

Journal of Head & Neck Physicians and Surgeons, 2022
Microcephaly is a rare neurological condition, and it is characterized by a smaller head than other children of the same age and sex. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MLCRD) is a syndrome with a varying ...
Sinem Yalcintepe, Hazal Sezginer Guler, Drenushe Zhuri, Damla Eker, Hakan Gurkan   +4 more
doaj   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Investigating microcephaly [PDF]

Archives of Disease in Childhood, 2013
1. Microcephaly is a clinical finding, not a 'disease', and is a crude but trusted assessment of intracranial brain volume. 2. Developmental processes reducing in utero neuron generation present at birth with 'Primary microcephaly'. 3. 'Secondary microcephaly' develops after birth and predominantly reflects dendritic or white matter diseases.
C Geoffrey, Woods, Alasdair, Parker
openaire   +2 more sources

Genomic Analysis of Korean Patient With Microcephaly

Frontiers in Genetics, 2021
Microcephaly is a prevalent phenotype in patients with neurodevelopmental problems, often with genetic causes. We comprehensively investigated the clinical phenotypes and genetic background of microcephaly in 40 Korean patients.
Jiwon Lee, Jong Eun Park, Chung Lee, Ah Reum Kim, Byung Joon Kim, Woong-Yang Park, Chang-Seok Ki, Jeehun Lee   +7 more
doaj   +1 more source

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. [PDF]

, 2012
Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a ...
Ostergaard, P, Kantekin, E, Ozkinay, F, Özkınay F., Kantekin, Esin, Ozturk T., Jeffery, S, Fusun Atlihan, Jeffery S., Hazan F., Atlihan, Fusun, Esin Kantekin, ÖZTÜRK, ARİF TAYLAN, Ostergaard P., Steve Jeffery, Ozturk, T, Jeffery, Steve, Kantekin E., Hazan, F, Pia Ostergaard, Taylan Ozturk, Ozkinay, Ferda, Ostergaard, Pia, Filiz Hazan, Atlihan F., Atlihan, F, Ferda Ozkinay, Hazan, Filiz   +27 more
core   +1 more source

Small head circumference at birth: an 8-year retrospective cohort study in China

BMJ Paediatrics Open, 2019
Objective Head circumference is considered a reliable assessment of the volume of the underlying brain. We sought to identify risk factors (maternal factors or antenatal antecedents) for microcephaly and to assess the effects of microcephaly on neonatal ...
Wen Sun, Nathalie Auger, Shiliang Liu, Yanmei Pan, Lijuan Dai, Sihui Li, Sushan Xie, Shi Wu Wen, Dunjin Chen   +8 more
doaj   +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, Kenji Mizumoto, Kat S. Rock, Yohei Yasuda, Ryo Kinoshita, Yuichiro Miyamatsu   +5 more
doaj   +1 more source

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

BMC Neurology, 2020
Background Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic mutations.
Vincent Picher-Martel, Yvan Labrie, Serge Rivest, Baiba Lace, Nicolas Chrestian   +4 more
doaj   +1 more source

The Frequency of Cytomegalovirus and Toxoplasma Among Microcephalic and Hydrocephalic Neonates Admitted to Pediatric Hospital in Bandar Abbas [PDF]

Disease and Diagnosis, 2020
Background: Congenital infection is a primary cause of malformations during infancy including hydrocephaly and microcephaly. In addition, cytomegalovirus and toxoplasma are the two prevalent causes of congenital infections.
Maryam Rostamian, Seyyed Hossein Saadat, Mohammad Mehdi Mashayekhi, Hosein Hamadiyan, Mehran Ahmadi   +4 more
doaj   +1 more source