We present prenatal and postnatal features of a patient with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Mutation analysis confirmed the clinical diagnosis by detecting the FGFR3 Lys650Met mutation. This case, one of only six with molecular analysis reported in the literature, confirms the severe morbidity and adds to the reports with early mortality associated with SADDAN. Clinical-radiological characteristics of all reported cases of SADDAN are reviewed and discussed.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.32085 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Husband involvement in postnatal care services utilization and associated factors in Bishoftu Town, Central Ethiopia; community-based cross-sectional study.
Front Glob Womens Health
December 2024
Department of Public Health, Kuyu General Hospital, Gerba Guracha, Ethiopia.
Background: Both mothers and newborns go through a critical time in their lives during the postnatal period, and the majority of deaths of mothers and neonates happen during this period. Postnatal care is the care given to women and their neonates, starting from delivery to 42 postnatal days. Although the significance of postnatal care in maternal and child health is acknowledged, the influence of husbands in either facilitating or impeding access to these services has been largely unexplored.
View Article and Find Full Text PDFRelevance of diet in schizophrenia: a review focusing on prenatal nutritional deficiency, obesity, oxidative stress and inflammation.
Front Nutr
December 2024
Department of Gastroenterology, "Grigore T. Popa" University of Medicine and Pharmacy, Iași, Romania.
Background/objectives: Schizophrenia is a complex mental disorder influenced by genetic and environmental factors, including dietary habits. Oxidative stress and inflammation play a crucial role in the pathophysiology of schizophrenia. Emerging research suggests that diet may affect schizophrenia through different biological mechanisms beyond oxidative stress and inflammation.
View Article and Find Full Text PDFFactors influencing early postnatal care use among postpartum women in Afghanistan.
Sci Rep
December 2024
Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
Using postnatal care (PNC) within the first week following childbirth is crucial, as both the mother and her baby are particularly vulnerable to infections and mortality during this period. In this study, we examined the factors associated with early postnatal care (EPNC) use in Afghanistan. We used data from the multiple indicator cluster survey (MICS) 2022-2023.
View Article and Find Full Text PDFA qualitative exploration of women's expectations of birth and knowledge of birth interventions following antenatal education.
BMC Pregnancy Childbirth
December 2024
Academic Women's Health Unit, Bristol Medical School, University of Bristol, 5 Tyndall Avenue, Bristol, BS8 1UD, UK.
Background: Expectations of birth, and whether they are met, influence postnatal psychological wellbeing. Intrapartum interventions, for example induction of labour, are increasing due to a changing pregnant population and evolving evidence, which may contribute to a mismatch between expectations and birth experience. NICE recommends antenatal education (ANE) to prepare women for labour and birth, but there is no mandated UK National Health Service (NHS) ANE curriculum.
View Article and Find Full Text PDFOndansetron blocks fluoxetine effects in immature neurons in the adult rat piriform cortex layer II.
Neurosci Lett
December 2024
Neurobiology Unit, Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Spain. Electronic address:
Neuronal structural plasticity gives the adult brain the capacity to adapt to internal or external factors by structural and molecular changes. These plastic processes seem to be mediated, among others, by the action of the neurotransmitter serotonin through specific receptors (5-HTRs). Previous studies have shown that the maturation of granule cells in the hippocampus is mediated by 5-HT3.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!