Genetic screening is used to identify individuals who have genetic variations or mutations that are associated with a particular disorder. Genetic screening may be useful to plan for periodic evaluation, implementation of preventive strategies, or initiation of therapeutic interventions. Current practice is to offer carrier screening for certain genetic diseases during the preconception encounter or more commonly as part of early prenatal care.
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The effect of tonsillectomy on clinical manifestations in Familial Mediterranean fever.
Int J Pediatr Otorhinolaryngol
January 2025
Otorhinolaryngology Department, Faculty of Medicine, Menoufia University, Menoufia, Egypt; Medicine and Surgery Program, Menoufia National University, Menoufia, Egypt. Electronic address:
Purpose: Familial Mediterranean fever (FMF) is the most prevalent genetic autoinflammatory disease worldwide. There are several novel advancements in pathophysiology, genetic testing, diagnosis, comorbidities, disease-related damage, and treatment strategies. This study aimed to assess the effect of tonsillectomy on FMF disease severity and activity.
View Article and Find Full Text PDFGermline variants detected by multigene panel testing in patients with suspected hereditary breast cancer.
Surg Today
January 2025
Department of Surgery, Division of Breast and Endocrine Surgery, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Purpose: To clarify the status of multigene panel testing for suspected hereditary breast cancer in our institute, and disclose the characteristics of the variants detected.
Methods: This was a retrospective study of individuals who underwent next-generation sequencing-based multigene panel testing at our institute to investigate hereditary genetic variants for suspected hereditary breast cancer.
Results: We identified 36 women who underwent multigene panel testing: 8 (22.
Application of predictive modeling tools for the identification of Ocimum spp. herbal products.
Anal Bioanal Chem
January 2025
Intercollege Graduate Degree Program in Plant Biology, Pennsylvania State University, University Park, PA, USA.
Species identification of botanical products is a crucial aspect of research and regulatory compliance; however, botanical classification can be difficult, especially for morphologically similar species with overlapping genetic and metabolomic markers, like those in the genus Ocimum. Untargeted LC-MS metabolomics coupled with multivariate predictive modeling provides a potential avenue for improving herbal identity investigations, but the current dearth of reference materials for many botanicals limits the applicability of these approaches. This study investigated the potential of using greenhouse-grown authentic Ocimum to build predictive models for classifying commercially available Ocimum products.
View Article and Find Full Text PDFAdaptive hybrid ANFIS-PSO and ANFIS-GA approach for occupational risk prediction.
Int J Occup Saf Ergon
January 2025
Computer Science Department; Badji Mokhtar University, Algeria.
This study attempted to optimize the adaptive neuro-fuzzy inference system (ANFIS) using particle swarm optimization (PSO) and a genetic algorithm (GA) for calculating occupational risk. Numerous studies have shown that the ANFIS is a good approach for predicting engineering problems. However, it is not well investigated in the area of risk assessment.
View Article and Find Full Text PDFFetal Corpus Callosum Anomalies: A Review of Underlying Genetic Disorders and Prenatal Testing Options.
J Ultrasound Med
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BCNatal Fetal Medicine Research Center (Hospital Clınic and Hospital Sant Joan de Deu), University of Barcelona, Barcelona, Catalonia, Spain.
Anomalies of the corpus callosum (CC) are amongst the most common fetal Central Nervous System (CNS) anomalies detectable on ultrasound. Underlying genetic disease plays an important part in defining prognosis. Associations with aneuploidy and submicroscopic chromosomal deletions or duplications have been well demonstrated using chromosomal microarray analysis.
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