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Perception of Quality of Life by Primary Caregivers of Children with Congenital Zika Syndrome: a Cross-Sectional Study.
Matern Child Health J
January 2025
Department of Pediatric Dentistry, University of Texas Health Science Center at Houston, School of Dentistry, 7500 Cambridge St. | Suite 5306, Houston, TX, 77054, USA.
Objective: The study aimed to evaluate the quality of life (QoL) of caregivers of children diagnosed with CZS and to assess the association of findings with socioeconomic and CZS-associated variables.
Methods: This was a cross-sectional, quantitative study, carried out over three days of multidisciplinary care for patients with CZS. Sixty-four participants underwent a quality of life assessment using the World Health Organization Quality of Life questionnaire (WHOQOL-BREF) in Portuguese.
Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency.
Biomedica
December 2024
Servicio de Inmunología y Alergología, Fundación Universitaria Ciencias de la Salud - FUCS, Bogotá, D. C., Colombia.
Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. This gene participates in the DNA non-homologous end-joining pathway, repairing double-strand breaks in the DNA of mammalian cells. The clinical features include growth retardation, microcephaly, triangle-shaped face, recurrent infections, fibroblast's excessive sensitivity to gamma-ionizing radiation, and hypogammaglobulinemia; also, low counts of subpopulations of B and T lymphocytes, with normal values of natural-killer cells.
View Article and Find Full Text PDFPrenatal phenotype of PNKP-related microcephaly, seizures, and developmental delay: A case report and literature review.
Medicine (Baltimore)
January 2025
The Reproductive Medicine Centre, Weifang People's Hospital, Shandong Second Medical University, Weifang, Shandong, China.
Rationale: Microcephaly, epilepsy, and developmental delay (MCSZ) is a rare neurodevelopmental disorder associated with autosomal recessive inheritance of mutations in the polynucleotide kinase 3'-phosphatase (PNKP) gene. Prompt identification and management are essential, as delayed diagnosis or intervention may result in severe complications or mortality. In this case, prenatal screening in the second trimester detected fetal microcephaly with a gradual decline in head circumference, prompting the decision to terminate the pregnancy.
View Article and Find Full Text PDFDrayer Syndrome due to Chromosome 15q26.3 Deletion: Response to Growth Hormone Treatment.
Sisli Etfal Hastan Tip Bul
December 2024
Division of Pediatric Endocrinology, Department of Pediatrics, University of Health Sciences Türkiye, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Türkiye.
Chromosome 15q26 deletion is a rare condition that causes short stature and is associated with intrauterine growth restriction (IUGR), failure to thrive, congenital heart disease and many congenital malformations. The insulin growth factor receptor (IGF-1R) on chromosome 15 has many important roles, especially in growth regulation. Our case is an 18-month-old small for gestational age girl who presented with severe short stature, microcephaly and minor dysmorphic features.
View Article and Find Full Text PDFThe microcephaly-associated transcriptional regulator AUTS2 cooperates with Polycomb complex PRC2 to produce upper-layer neurons in mice.
EMBO J
January 2025
Department of Biochemistry and Cellular Biology, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, 187-8502, Japan.
AUTS2 syndrome is characterized by intellectual disability and microcephaly, and is often associated with autism spectrum disorder, but the underlying mechanisms, particularly concerning microcephaly, remain incompletely understood. Here, we analyze mice mutated for the transcriptional regulator AUTS2, which recapitulate microcephaly. Their brains exhibit reduced division of intermediate progenitor cells (IPCs), leading to fewer neurons and decreased thickness in the upper-layer cortex.
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