Results 21 to 30 of about 70,875 (280)

Microcephaly measurement in adults and its association with clinical variables

Revista de Saúde Pública, 2022
OBJECTIVE To establish a microcephaly cut-off size in adults using head circumference as an indirect measure of brain size, as well as to explore factors associated with microcephaly via data mining.
Nicole Rezende da Costa, Livia Mancine, Rogerio Salvini, Juliana de Melo Teixeira, Roberta Diehl Rodriguez, Renata Elaine Paraizo Leite, Camila Nascimento, Carlos Augusto Pasqualucci, Ricardo Nitrini, Wilson Jacob-Filho, Beny Lafer, Lea Tenenholz Grinberg, Claudia Kimie Suemoto, Paula Villela Nunes   +13 more
doaj   +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

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

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

Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects [PDF]

, 2019
Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Corsello G., Mancuso G., Martorana C., Montante C., Notarbartolo V., Piro E., Schierz I. A. M., Vanella V.   +7 more
core   +1 more source

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2 [PDF]

, 2003
Key points: • Autosomal recessive primary microcephaly (MCPH) is a genetic disorder in which an affected subject is born with a head circumference >3 SD below the expected mean and is mentally retarded.
Costa, S.M.R., Hampshire, D.J., Leal, G.F., Roberts, E., Silva, E.O., Woods, C.G.   +5 more
core   +2 more sources

Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis [PDF]

, 2013
Microcephaly represents one of the most obvious clinical manifestations of impaired neurogenesis. Defects in the DNA damage response, in DNA repair, and structural abnormalities in centrosomes, centrioles and the spindle microtubule network have all been
Abramowicz, Iga, Carpenter, Gillian, Colnaghi, Rita, Kerzendorfer, Claudia, O'Driscoll, Mark   +4 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

How do medical researchers make causal inferences? [PDF]

, 2019
Bradford Hill (1965) highlighted nine aspects of the complex evidential situation a medical researcher faces when determining whether a causal relation exists between a disease and various conditions associated with it.
Dammann, Olaf, Poston, Ted, Thagard, Paul   +2 more
core   +1 more source