Results 31 to 40 of about 40,620 (232)

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

BMC Medical Genetics, 2017
Background Microcephaly is a disorder characterized by severe impairment in brain development, reduced brain and head size. Congenital severe microcephaly is very rare, and NDE1 deletion and genetic mutations are important contributors. Case presentation
Li Tan, Bo Bi, Peiwei Zhao, Xiaonan Cai, Chunhui Wan, Jianbo Shao, Xuelian He   +6 more
doaj   +1 more source

Zika Virus Infection and Microcephaly: A Case-Control Study in Brazil

Annals of Global Health, 2019
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, Luciano Lima Correia, Antônio José Lêdo Alves da Cunha, Hermano Alexandre Lima Rocha, Álvaro Jorge Madeiro Leite, Jocileide Sales Campos, Tereza de Jesus Pinheiro Gomes Bandeira, Lucas Silveira do Nascimento, Anamaria Cavalcante e Silva   +8 more
doaj   +1 more source

Microcephaly, an etiopathogenic vision

Pediatrics and Neonatology, 2021
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, Leovigildo Mateos-Sánchez, Eunice López-Muñoz   +2 more
doaj   +1 more source

Causes of microcephaly in human—theoretical considerations

Frontiers in Neuroscience, 2023
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

ETIOLOGY, DIAGNOSIS, AND MANAGEMENT OF CHILDHOOD MICROCEPHALY: A SINGLE-CENTER RETROSPECTIVE STUDY

Malang Neurology Journal, 2022
Background: Microcephaly is a condition that causes a reduction in brain volume as well as cognitive and motor impairments. It can be seen alone or in conjunction with a variety of genetic disorders and environmental factors.
Deniz Güven, Didem Ardıçlı, Dilek Sarıcı   +2 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Feeding characteristics and growth among children with prenatal exposure to Zika virus with and without microcephaly in the microcephaly epidemic research group pediatric cohort

BMC Pediatrics
Objective To describe the feeding characteristics and growth of children with prenatal exposure to Zika virus (ZIKV) from birth to 48 months. Design Using data from the prospective Microcephaly Epidemic Research Group Pediatric Cohort (MERG-PC), children
Danielle Maria da Silva Oliveira, Demócrito de Barros Miranda-Filho, Ricardo Arraes de Alencar Ximenes, Ulisses Ramos Montarroyos, Elizabeth B. Brickley, Maria Helena Teixeira Pinto, Celina Maria Turchi Martelli, Regina Coeli Ramos, Thalia Velho Barreto de Araújo, Sophie Helena Eickmann, Paula Fabiana Sobral da Silva, Maria Durce Costa Gomes Carvalho, Olga Sophia de Sousa Martins, Ana Célia Oliveira dos Santos   +13 more
doaj   +1 more source

Socioeconomic disparities associated with symptomatic Zika virus infections in pregnancy and congenital microcephaly: A spatiotemporal analysis from Goiânia, Brazil (2016 to 2020).

PLoS Neglected Tropical Diseases, 2022
The Zika virus (ZIKV) epidemic, which was followed by an unprecedented outbreak of congenital microcephaly, emerged in Brazil unevenly, with apparent pockets of susceptibility.
Luiza Emylce Pela Rosado, Erika Carvalho de Aquino, Elizabeth Bailey Brickley, Divania Dias da Silva França, Fluvia Pereira Amorim Silva, Vinicius Lemes da Silva, Angela Ferreira Lopes, Marilia Dalva Turchi   +7 more
doaj   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Congenital microcephaly unrelated to flavivirus exposure in coastal Kenya [version 1; peer review: 2 approved, 1 approved with reservations]

Wellcome Open Research, 2019
Background: Zika virus (ZIKV) was first discovered in East Africa in 1947.  ZIKV has caused microcephaly in the Americas, but it is not known whether ZIKV is a cause of microcephaly in East Africa.
Hellen C. Barsosio, John N. Gitonga, Henry K. Karanja, Doris K. Nyamwaya, Donwilliams O. Omuoyo, Everlyn Kamau, Mainga M. Hamaluba, Joyce U. Nyiro, Barnes S. Kitsao, Amek Nyaguara, Stella Mwakio, Charles R. Newton, Rosemary Sang, Daniel Wright, Eduard J. Sanders, Anna C. Seale, Charles N. Agoti, James A. Berkley, Philip Bejon, George M. Warimwe   +19 more
doaj   +1 more source