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Aim And Objectives: The aim of this descriptive study was to explore the psychological impact of genetic testing on parents whose children have been referred for genetic testing.
Background: Genetic tests enable individuals to be informed about their health status and to have the opportunity of early diagnosis and treatment of their diseases. However undergoing genetic testing and receiving a positive test result may also cause stress and anxiety.
Study Design And Method: This descriptive study was carried out at the genetic departments of two university hospitals in Ankara. The sample of this study consisted of 128 individuals whose children have been referred for chromosomal analysis. Data were collected through using a semi-structured interview method with a data collection form and the anxiety inventory and analysed using the percentages and independent samples t-test.
Results: The majority of our participants experienced distress before genetic testing. Their general trait anxiety score before receiving the test results was 47.38, and following the test results the state anxiety score was 50.65. Having a previous child with an abnormality, a positive test result, and being a mother elevated the anxiety of individuals.
Conclusion: This paper supports the findings of previous studies, which indicated that genetic test results might lead to anxiety in individuals and reveals the importance of genetic counselling.
Relevance To Clinical Practice: As the results of this study indicated, genetic testing causes distress and anxiety in individuals. Nurses can play an important role in minimizing anxiety of parents whose children undergo genetic testing by providing information about genetic testing and by taking part in the counselling process.
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http://dx.doi.org/10.1111/j.1365-2702.2005.01228.x | DOI Listing |
Mol Genet Genomics
December 2024
ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China.
Low-frequency non-syndromic hearing loss (LFNSHL) is a rare auditory disorder affecting frequencies ≤ 2000 Hz. To elucidate its genetic basis, we conducted whole-exome sequencing on nine Chinese families (31 affected individuals) with LFNSHL. Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
View Article and Find Full Text PDFJ Community Health
December 2024
Department of Sociomedical Sciences, Columbia University Mailman School of Public Health, New York, NY, USA.
Alzheimer's disease (AD) is a debilitating neurodegenerative illness that has become a growing concern for older adults. As such, apolipoprotein E (APOE) genetic testing has become more commonly used to identify individuals' susceptibility to AD. An underrepresented population in AD research, Latinos will be disproportionately affected by AD in the coming decades.
View Article and Find Full Text PDFPharmgenomics Pers Med
December 2024
Department of Cardiology, Tangshan Gongren Hospital, Tangshan, Hebei, People's Republic of China.
Purpose: Atorvastatin is commonly used to treat dyslipidemia; however, individual responses vary considerably. This study endeavors to evaluate the relationship between polymorphisms in the coding sequence (CDS) of SLCO1B1 gene and blood lipid levels before and after atorvastatin treatment among the Chinese Han adults with dyslipidemia.
Patients And Methods: A total of 165 Chinese Han adults undergoing atorvastatin therapy were enrolled in this study and followed up quarterly.
Neurol Genet
February 2025
Department of Neuroscience, Mayo Clinic, Jacksonville, FL.
Objectives: In this study, we describe a 54-year-old Indian woman who presented with clinical features of Kufs syndrome A (KSA) and Kufs syndrome B (KSB), as well as neuropathologic and genetic findings consistent with neuronal ceroid lipofuscinosis type 13 (CLN13). Subsequently, we review the clinicopathologic features of 20 patients with CLN13 reported in the literature.
Methods: Data and imaging were obtained from the patient's medical records.
Cureus
November 2024
Diabetes and Endocrinology, University Hospitals Plymouth National Health Service (NHS) Trust, Plymouth, GBR.
Primary hyperparathyroidism (PHPT) typically presents with a spectrum of symptoms, including neuropsychiatric manifestations such as anxiety, depression, confusion, and, in severe cases, coma. While psychiatric symptoms are not uncommon in PHPT, acute psychosis is a rare presentation. In such cases, immediate control of serum calcium levels is crucial, and emergency parathyroidectomy may be required if medical management alone fails to control hypercalcemia.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!