Consanguineous marriage is prevalent in certain world regions due to cultural, economic, and social reasons. However, it can lead to negative consequences including an increased risk of genetic disorders in offspring. Premarital genetic screening (PMGS) is an important tool to identify and manage these risks before marriage. This study aimed to assess the magnitude of consanguineous marriage, knowledge of genetic diseases and PMGS, and attitudes and willingness to perform PMGS in Sudan. A national household survey was conducted using a multistage sampling technique, with a sample size of 2272 participants. Data were collected from December 2022 to March 2023 using an interviewer-administered questionnaire. A significant proportion of respondents (364/850, 42.8%) were married to consanguineal partners, with various types of relatedness. Moreover, 32.1% (242/755) of single respondents were planning to marry a close relative, signifying the likely persistence of consanguineous marriages in Sudan. The level of knowledge regarding genetic diseases and PMGS was relatively low in many states of Sudan, indicating the need for increased awareness interventions. A significant number of participants (85.2%) agreed that premarital screening is effective in reducing genetic diseases, whereas 71.2% supported the introduction of a mandatory PMGS program. Excluding married participants, 82.3% (1265/1537) of respondents were willing to perform PMGS, if implemented. These findings reflect the public positive attitude towards introducing the PMGS program and policies in Sudan and underscore the importance of addressing the knowledge gap of PMGS before such a potential implementation.
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http://dx.doi.org/10.1038/s41431-023-01438-1 | DOI Listing |
PLoS One
January 2025
Veterinary School, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
Salmonella Dublin is a serovar that causes severe infections and cattle. Despite the importance of this agent, research on achieving its elimination from dairy farms is limited, which complicates risk mitigation and control efforts. This study thus aimed to assess the prevalence of S.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, Department of Neuroscience, School of Life Sciences, Southern University of Science and Technology, Shenzhen 518055, China.
Ankyrin Repeat Domain-containing Protein 11 () is a causative gene for KBG syndrome, a significant risk factor for Cornelia de Lange syndrome (CdLS), and a highly confident autism spectrum disorder gene. Mutations of lead to developmental abnormalities in multiple organs/tissues including the brain, craniofacial and skeletal bones, and tooth structures with unknown mechanism(s). Here, we find that ANKRD11, via a short peptide fragment in its N-terminal region, binds to the cohesin complex with a high affinity, implicating why mutation can cause CdLS.
View Article and Find Full Text PDFCurr Cardiol Rep
January 2025
Department of Cardiac Sciences, University of Calgary and Libin Cardiovascular Institute, Calgary, AB, Canada.
Purpose Of Review: This review evaluates recent advancements in Technetium-99 m pyrophosphate (99mTc-PYP) imaging for transthyretin amyloid cardiomyopathy (ATTR-CM). We summarize the advantages of single-photon emission computed tomography (SPECT) over planar imaging, the potential impact of quantitative methods, and emerging data for quantifying response to therapy.
Recent Findings: The current literature demonstrates the superior diagnostic accuracy of SPECT compared with planar imaging in 99mTc-PYP studies.
Sleep Breath
January 2025
McGovern Medical School University of Texas Health, Houston, TX, USA.
Purpose: Children with achondroplasia (ACH) are at risk for sudden death in infancy due to sleep disordered breathing (SDB) and foramen magnum stenosis (FMS). Sleep studies and neuroimaging are performed in infants with ACH, but interpretation of infant studies is challenging. We sought to describe baseline data on polysomnography (PSG) indices in infants with achondroplasia as well as effects of age and surgery on these parameters.
View Article and Find Full Text PDFJ Neurol
January 2025
Turner Institute for Brain and Mental Health, School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences, Monash University, 18 Innovation Walk, Clayton, Victoria, 3800, Australia.
Background: Huntington's disease (HD) is a rare neurodegenerative disease that causes progressive cognitive, physical, and psychiatric symptoms. Computerised cognitive training (CCT) is a novel intervention that aims to improve and maintain cognitive functions through repeated practice. The effects of CCT have yet to be established in HD.
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