Specific language impairment (SLI), involving environmental as well as genetic factors, is a complex disorder affecting 5-10% of preschool-age children. This review summarizes current data regarding the genetic factors involved in SLI. Genetic factors were first implicated in SLI on the basis of twin studies and reports of familial cases. Furthermore, several studies have shown that the relative risk of SLI was higher for close relatives of affected individuals. Finally, a specific gene (FOXP2) has been identified on the long arm of chromosome 7 in a family affected with SLI, and several regions of the genome, i.e. 7q31, 16q and 19q, have been found to be strongly linked to SLI.
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http://dx.doi.org/10.1016/j.arcped.2004.03.121 | DOI Listing |
Hum Reprod Open
November 2024
Department of Medical Informatics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Study Question: How accurately can artificial intelligence (AI) models predict sperm retrieval in non-obstructive azoospermia (NOA) patients undergoing micro-testicular sperm extraction (m-TESE) surgery?
Summary Answer: AI predictive models hold significant promise in predicting successful sperm retrieval in NOA patients undergoing m-TESE, although limitations regarding variability of study designs, small sample sizes, and a lack of validation studies restrict the overall generalizability of studies in this area.
What Is Known Already: Previous studies have explored various predictors of successful sperm retrieval in m-TESE, including clinical and hormonal factors. However, no consistent predictive model has yet been established.
Front Mol Neurosci
December 2024
Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA, United States.
Post-transcriptional mechanisms, such as alternative splicing and polyadenylation, are recognized as critical regulatory processes that increase transcriptomic and proteomic diversity. The advent of next-generation sequencing and whole-genome analyses has revealed that numerous transcription and epigenetic regulators, including transcription factors and histone-modifying enzymes, undergo alternative splicing, most notably in the nervous system. Given the complexity of regulatory processes in the brain, it is conceivable that many of these splice variants control different aspects of neuronal development.
View Article and Find Full Text PDFFront Pharmacol
December 2024
Department of Urology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, China.
Objective: This research project aimed to identify and analyze the top 30 drugs most commonly associated with kidney stone formation using data from the U.S. Food and Drug Administration's Adverse Event Reporting System (FAERS) database.
View Article and Find Full Text PDFFront Hum Neurosci
December 2024
The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
Background And Purpose: Vestibular migraine (VM) is a common clinical disorder with a genetic predisposition characterized by recurrent episodes of dizziness/vertigo. Patients often complain of the presence of cognitive dysfunction manifestations such as memory loss, which causes great distress in daily life. In this study, we will explore the characteristics and possible risk factors of VM-related cognitive dysfunction by observing the cognitive function and vestibular function status of VM patients, laying the foundation for further exploration of the mechanisms of VM-related cognitive dysfunction.
View Article and Find Full Text PDFIt is critical to recognize pulmonary embolism as soon as possible in patients who have gastrointestinal problems pre- and post-surgery. Even in the absence of conventional risk factors, the Factor V Leiden mutation emphasizes the importance of a thorough thrombophilia assessment. To effectively manage and prevent thrombotic episodes, prompt anticoagulant medication and genetic screening for family members are essential.
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