Results 51 to 60 of about 290,347 (229)

Zika-exposed microcephalic neonates exhibit higher degree of inflammatory imbalance in cerebrospinal fluid

Scientific Reports, 2021
Not every neonate with congenital Zika virus (ZIKV) infection (CZI) is born with microcephaly. We compared inflammation mediators in CSF (cerebrospinal fluid obtained from lumbar puncture) between ZIKV-exposed neonates with/without microcephaly (cases ...
Gustavo C. Nascimento-Carvalho, Eduardo C. Nascimento-Carvalho, Clara L. Ramos, Ana-Luisa Vilas-Boas, Otávio A. Moreno-Carvalho, Caian L. Vinhaes, Beatriz Barreto-Duarte, Artur T. L. Queiroz, Bruno B. Andrade, Cristiana M. Nascimento-Carvalho   +9 more
doaj   +1 more source

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report

, 2015
CONTEXT: 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 (6721697), Korine Camargo (12799411), Paulo Ricardo Gazzola Zen (6721709), Flávia Enk (12799408), Rosana Cardoso Manique Rosa (10445286), Giovanni Marco Travi (12799414), Carla Graziadio (10445289), Vinicius Freitas de Mattos (10445402), André Freitas (3320523)   +8 more
core   +1 more source

Galactokinase 1 Positively Regulates Mitochondrial Respiration by Phosphorylating TIMM13 as a Protein Kinase

Advanced Science, EarlyView.
GALK1 acts as a protein kinase beyond the phosphorylation of galactose. GALK1 phosphorylates TIMM13 at Y73 in the cytoplasm. This phosphorylation prevents premature oxidative folding of TIMM13 and ensures its entrance into the intermembrane space of mitochondrion, positively regulating mitochondrial respiration.
Chang Woo Ko, Dongyoon Shin, Junho Park, June Huh, Youngsoo Kim, Jong‐Wan Park   +5 more
wiley   +1 more source

Microcephaly in South Brazil: Are cases of Congenital Zika Syndrome increasing in recent years?

Genetics and Molecular Biology
Northeast Brazil was the first region to detect a significant increase in babies born with microcephaly associated with prenatal zika virus infection in 2015.
Anna Pires Terra, Ricardo Rohweder, Silvani Herber, Luciana Friedrich, Maria Teresa Vieira Sanseverino, Catia Favreto, Fernanda Santa Maria, Emilly de Jesus Athayde, Laércio Moreira Cardoso-Júnior, Andrea Cristina Pereira Marinho, Allanamara Pereira Marinho, Tailine Zarpelon, Lavínia Schuler-Faccini   +12 more
doaj   +1 more source

Burden of disease due to microcephaly associated with the Zika virus in Colombia [PDF]

Cadernos de Saúde Pública
In 2015, the Zika virus was introduced in Colombia. The emergence of this arbovirus is a public health challenge for the country, considering the association between the infection and congenital disorders such as microcephaly.
Andrés Felipe Mora-Salamanca, Alexandra Porras-Ramírez, Fernando Pío de la Hoz Restrepo   +2 more
doaj   +2 more sources

A case of immune-mediated type 1 diabetes mellitus due to congenital rubella ınfection [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2019
Congenital rubella infection is a transplacental infection that can cause intrauterine growth retardation, cataracts, patent ductus arteriosus, hearing loss, microcephaly, thrombocytopenia, and severe fetal injury.
Hüseyin Anıl Korkmaz, Çağatay Ermiş
doaj   +1 more source

Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2‐ketoglutaric aciduria [PDF]

American Journal of Medical Genetics, 2002
AbstractA new metabolic disorder characterized by severe congenital microcephaly, death within the first year, and severe 2‐ketoglutaric aciduria has been found among the Old‐Order Amish of Lancaster County, Pennsylvania. Amish lethal microcephaly segregates as an autosomal recessive disorder and has an unusually high incidence of at least 1 in 500 ...
Richard I, Kelley, Donna, Robinson, Erik G, Puffenberger, Kevin A, Strauss, D Holmes, Morton   +4 more
openaire   +2 more sources

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Ultrasound prediction of Zika virus-associated congenital injury using the profile of fetal growth.

PLoS ONE, 2020
Zika virus (ZIKV) is a mosquito-transmitted flavivirus, recently linked to microcephaly and central nervous system anomalies following infection in pregnancy. Striking findings of disproportionate growth with a smaller than expected head relative to body
Christie L Walker, Noah Ehinger, Brittney Mason, Elizabeth Oler, Marie-Térèse E Little, Eric O Ohuma, Aris T Papageorghiou, Unzila Nayeri, Christine Curry, Kristina M Adams Waldorf   +9 more
doaj   +1 more source

Dysregulation of Ephrin receptor and PPAR signaling pathways in neural progenitor cells infected by Zika virus

Emerging Microbes and Infections, 2020
Zika virus (ZIKV) infection is a serious public threat with cases reported in about 70 countries and territories. One of the most serious consequences of ZIKV infection is congenital microcephaly in babies.
Sathya N. Thulasi Raman, Elyse Latreille, Jun Gao, Wanyue Zhang, Jianguo Wu, Marsha S. Russell, Lisa Walrond, Terry Cyr, Jessie R. Lavoie, David Safronetz, Jingxin Cao, Simon Sauve, Aaron Farnsworth, Wangxue Chen, Pei-Yong Shi, Youchun Wang, Lisheng Wang, Michael Rosu-Myles, Xuguang Li   +18 more
doaj   +1 more source