Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s40618-023-02244-8 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Seasonal Fluctuation in the Incidence of Congenital Hypothyroidism Across Different Temperate Zones of China.
Birth Defects Res
January 2025
National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: Seasonality in the incidence of congenital hypothyroidism (CH) has been identified in several countries and different conclusions have been drawn. The objective of this study was to examine whether this seasonality is also observable in China and how it manifests across different temperate zones.
Methods: Data on CH cases and screened neonates between January 1, 2014, and September 30, 2022, by year and season, were sourced from the Chinese Newborn Screening Information System.
Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family.
Front Genet
October 2024
Department of Reproductive Medicine, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, China.
Background: Cockayne syndrome (CS) is a rare, multisystem, autosomal recessive disorder characterized by cachectic dwarfism, nervous system abnormalities, and premature aging. Mutations in the ERCC6 and ERCC8 genes are the predominant causes of Cockayne syndrome, with ERCC6 gene mutations present in approximately 75% of cases.
Methods: Trio-based whole-exome sequencing (trio-WES) was employed to identify potential pathogenic variants associated with CS.
Transcriptomic analysis of sexually dimorphic cypris larvae of the rhizocephalan barnacle Peltogasterella gracilis.
Comp Biochem Physiol Part D Genomics Proteomics
December 2024
Nara Women's University, Kitauoya-nishi 630-8506, Nara, Japan.
Peltogasterella gracilis (Cirripedia: Rhizocephala), a crustacean parasite of hermit crabs, displays genotypic sex determination. Its larvae are planktonic, and female larvae settle on the host. Subsequently, the females control the host's behavior by spreading a root-like structure called "the interna" within the host's body, and form sacs containing eggs called "the externae" outside the host's body.
View Article and Find Full Text PDFPhysical Activity and Psychosocial Outcomes in Adults with Achondroplasia: An Exploratory Study.
Int J Environ Res Public Health
August 2024
Department of Psychology, Center for Research in Education and Psychology of the University of Évora (CIEP-UE), University of Évora, 7000-727 Évora, Portugal.
Background: Adults with achondroplasia face physical and psychosocial challenges that may impact their health-related quality of life and mental health. This exploratory cross-sectional study aimed to investigate relationships between health-related quality of life, mental health, and physical activity levels in adults with achondroplasia, focusing on potential gender differences.
Methods: Sixteen adults with achondroplasia (10 women, 6 men; age 37.
Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.
BMC Med Genomics
September 2024
Faculty of Health and Life Sciences, University of Liverpool, Liverpool, L69 7ZB, UK.
Article Synopsis
- The case study discusses a female patient diagnosed with achondroplasia due to an FGFR3 gene variant, but her symptoms indicated a more complex condition, prompting further genetic analysis.* -
- Despite her initial diagnosis, the patient exhibited unusual features such as small head size, distinct facial characteristics, speech delay, and hearing loss, leading to her participation in extensive genetic research efforts.* -
- Ultimately, the discovery of an EFTUD2 gene rearrangement revealed a second diagnosis of mandibulofacial dysostosis with microcephaly, marking a rare instance of dual genetic disorders in one individual and emphasizing the need for careful genetic evaluations.*
Want 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!