Background: This study aimed to explore the parental genetic knowledge and attitudes toward childhood genetic testing of the inherited eye diseases (IEDs) in China.
Methods: This is a cross-sectional survey. All parents were assessed via self-administered questionnaires. Data were collected through the Internet at the pediatric eye clinics in a tertiary referral eye hospital.
Results: In total, 359 parents were included into this survey. The proportion of correctly answered the factual genetic knowledge questionnaire ranged from 35.7% to 81.3%, which is positively correlated to the educational levels and household per capita income. The attitudes toward childhood IEDs genetic testing appeared to be consistent. More factual genetic knowledge was predictive for a favorable attitude toward genetic testing. Han Chinese might be slightly more likely to have a favorable attitude. Interestingly, the higher educational levels and lower monthly incomes were predictive factors for a reserved attitude toward genetic testing. The families without history of IEDs were more inclined to remain a reserved attitude than those with family history of IEDs.
Conclusion: This study illustrated that more factual genetic knowledge was considered as an indicator for the favorable attitudes. Therefore, the effective strategies should be taken to provide the correct knowledge of genetics and genetic testing to parents, especially those who need to make an informed decision thereon to undertake childhood genetic testing.
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http://dx.doi.org/10.1002/mgg3.1402 | DOI Listing |
Pediatr Blood Cancer
January 2025
Departments of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Rearrangements of cytokine receptor-like factor 2 gene (CRLF2) are present in ∼50% of B-lymphoblastic leukemia/lymphoma (B-ALL) with BCR::ABL1-like features. Herein, we report three patients with CRLF2-rearranged mixed phenotype acute leukemia (MPAL). All three cases were B/myeloid MPAL in young patients harboring P2RY8::CRLF2 or IGH::CRLF2 with additional genomic alterations in signaling (JAK and RAS) and cell cycle (CDKN2A/B) pathways, a genomic profile similar to that in BCR::ABL1-like B-ALL.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Discipline of Women's Health, University of New South Wales, Randwick, Australia.
Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.
View Article and Find Full Text PDFDiabet Med
January 2025
Key Laboratory of Endocrine Gland Diseases of Zhejiang Province, Department of Endocrinology, Geriatric Medicine Center, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, China.
Maturity onset diabetes of the young (MODY) is a highly heterogeneous monogenic disease that occurs due to β-cell dysfunction. It is divided into different types depending on the gene mutated, and a total of 16 genes have been found to be associated with MODY. However, due to the current lack of understanding of monogenic diabetes, 90% of MODY is currently misdiagnosed and ignored in clinical practice.
View Article and Find Full Text PDFJ Cannabis Res
January 2025
Division of General Internal Medicine, Mayo Clinic College of Medicine and Science, 200 First St SW, Rochester, MN, 55905, USA.
Background: Differences in cannabinoid metabolism and patient responses can arise even with equivalent doses and formulations. Genetic polymorphisms in genes responsible for cannabinoid metabolism and medications that alter CYP450 pathways responsible for metabolism of cannabinoids may account for some of this variability.
Materials And Methods: A retrospective chart review was conducted on a cohort of unselected patients who had previously completed pharmacogenomic testing and reported oral cannabis use, as defined as "oral" or "by mouth" route of administration.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
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