Research has shown that genetics play a key role in the development of autism spectrum disorder (ASD). ASD has been linked to many genes and is a prominent feature in numerous genetic disorders. A genetic evaluation should be offered to any patient who receives a diagnosis of ASD, including deep phenotyping and genetic testing when clinically indicated. When insurance does not cover genetic testing for ASD patients, the lack of medical utility is often cited as a reason for prior authorization request denial. However, ample evidence exists that genetic testing has the power to change clinical management in many of these patients. Genetic testing that results in a diagnosis guides clinicians to screen for associated medical conditions and can direct targeted medical interventions. Given the potential for clinically actionable results, it is important that genetic testing be available and accessible to all patients with ASD.
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http://dx.doi.org/10.3390/genes13040585 | DOI Listing |
Medicine (Baltimore)
January 2025
Department of Pediatric Hematology, Children's Medical Center, The First Hospital of Jilin University, Changchun, China.
Rationale: This study presents a case of hemoglobin M disease (HMD), a rare inherited disorder characterized by persistent cyanosis and hypoxemia, observed across 3 generations within a single family. The diagnosis of HMD poses significant challenges, particularly in asymptomatic individuals, due to its rarity and the subtlety of its symptoms. Notably, there is a scarcity of reports on methemoglobinemia in pediatric populations, which further complicates early detection and intervention.
View Article and Find Full Text PDFPLoS One
January 2025
Department of Botany, University of Ghana, Legon, Ghana.
Cowpea is deemed as a food security crop due to its ability to produce significant yields under conditions where other staples fail. Its resilience in harsh environments; such as drought, heat and marginal soils; along with its nitrogen-fixing capabilities and suitability as livestock feed make cowpea a preferred choice in many farming systems across sub-Saharan Africa (SSA). Despite its importance, Cowpea yields in farmers' fields remain suboptimal, primarily due to biotic and abiotic factors and the use of either unimproved varieties or improved varieties that are not well-suited to local conditions.
View Article and Find Full Text PDFPLoS One
January 2025
Henan Key Laboratory of Fertility Protection and Aristogenesis, Luohe Central Hospital, Luohe, Henan Province, People's Republic of China.
Purpose: To evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) and compare its effectiveness in screening for chromosomal aneuploidies with that of NIPT.
Methods: Screening results, confirmatory invasive testing results, and follow-up data from pregnant women who underwent either NIPT (6792 cases) or NIPT-Plus (5237 cases) testing at Luohe Central Hospital, China, from January 2019 to June 2023 were collected. The positive predictive value (PPV), sensitivity, specificity, and other indicators for different types of chromosomal abnormalities in NIPT/NIPT-plus screening were calculated.
Invest Ophthalmol Vis Sci
January 2025
Biology and Biochemistry PhD Programs, Graduate Center, City University of New York, New York, New York, United States.
Purpose: Retinal development in the mouse continues past birth and provides a widely used model system in which photoreceptor formation can be observed and manipulated. This experimental paradigm provides opportunities for both gain-of-function and loss-of-function studies, which can be accomplished through in vivo or ex vivo plasmid delivery and electroporation. However, the cis-regulatory elements used to implement this approach have not been fully evaluated or optimized for the unique transcriptional environment of photoreceptors.
View Article and Find Full Text PDFThorac Cancer
January 2025
Department of Thoracic and Cardiovascular Surgery, Faculty of Medicine, Saga University, Saga, Japan.
Background: Multiplex genetic testing is recommended when treating nonsmall cell lung cancer. A certain percentage of test failures in RNA assays owing to poor surgical specimen quality have been documented, and fixation failure is a possible cause. At our institution, sheet-like fixation is performed to reduce fixation time.
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