All over the world, the increased awareness of the importance of early diagnosis of genetic diseases has given them priority in primary health care. However, more recent surveys indicate that genetics content is still lacking in nursing curricula. This survey aimed to measure the current status of primary care nurses' knowledge about genetics and genetic counseling, and the educational needs of nurses related to human genetics in the Denizli region of Turkey. This area in western Turkey has an 11.7% rate of consanguineous marriages; about 3.5% of the population are hemoglobinopathies carrier and 3.2% are thalassemia carriers. Data were collected on forms that aimed to obtain information about nurses' approaches to genetics and genetic counseling. A total of 86 of 106 nurses working in Denizli province returned the questionnaire (response rate of 81.1%). Phenylketonuria, at 61.5%, and Cooley's anemia, at 60.0%, were identified as the subjects these nurses were most knowledgeable about in terms of genetic disorders. A high percentage of nurses admitted they had insufficient knowledge about the genetic basis of diseases (96.4%), inheritance patterns (98.9%), ethical and legal issues (100.0%), genetic counseling (100.0%), gene testing (95.9%), and genetic engineering (97.9%). About 67% of nurses stated they would like to attend a training course on these subjects. As a result of this study a genetics course is planned for nurses so they can actively participate in the prevention and early diagnosis of genetic diseases.
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http://dx.doi.org/10.1620/tjem.210.321 | DOI Listing |
World J Surg Oncol
January 2025
Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring Road West, Fengtai District, Beijing, 100070, China.
Background: This study aims to identify a pathogenic SDHD mutation associated with hereditary head and neck paraganglioma (HNPGL) in a Chinese family and to explore its implications for genetic counseling.
Methods: The study involved a family with 15 members spanning three generations. A 31-year-old patient (II-4) was diagnosed with a left parotid gland tumor and a right carotid body tumor, while both the father and elder sister had right carotid body tumors, and the third sister had bilateral carotid body tumors.
Cerebellum
January 2025
Department of Neurology, Division of Neuro-Visual & Vestibular Disorders, The Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD, USA.
A 50-year-old woman with a 20-year history of gait instability presented with new-onset vertigo and oscillopsia. Examination revealed bilateral vestibular loss, cerebellar ataxia, sensory neuropathy, a "yes-yes" head tremor, nystagmus and a family history of a similar syndrome. Genetic testing for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (RFC1) was negative, but whole exome sequencing identified a novel mutation in the DNA methyltransferase 1 (DNMT1) gene, broadening the differential diagnosis for this phenotype.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Penn FTD Center, University of Pennsylvania, Philadelphia, PA, USA.
Background: Previously, the Penn Frontotemporal Degeneration (FTD) Center developed and validated criteria to stratify pedigrees of patients with FTD by likelihood of identifying a genetic etiology (Wood, JAMA Neurol., 2013). Pedigrees were classified as high-risk, medium-risk, low-risk, apparent sporadic, or unknown significance.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Amsterdam UMC location VUmc, Amsterdam, Noord-holland, Netherlands.
Background: SORL1 encodes the retromer-associated receptor SORLA that functions in endosomal recycling. Rare variants in SORL1 have been associated with Alzheimer's disease (AD) and rare pathogenic variants are estimated to occur in up to 2.75% of early onset AD patients and in 1.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Columbia University Irving Medical Center, New York, NY, USA.
Background: Alzheimer's disease (AD) risk is markedly increased among APOE ε4/ε4 homozygotes. Previous studies of APOE genotype disclosure impact have included few ethnic minorities. This study addresses this gap by investigating the immediate impact of disclosing an APOE ε4/ε4 genotype in the Información de la Enfermedad de Alzheimer para Latinos (IDEAL) study, a Latino community-based study.
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