Genetic counselling and testing for females with a family history of haemophilia has long been advocated. However, there is little research in regard to clients' satisfaction with the existing counselling models in haemophilia, and in particular with nurse-led clinics. The purpose of this study was to evaluate whether clients were satisfied with a nurse-led carrier testing clinic and counselling service. A retrospective quantitative study of clients' satisfaction and perceived knowledge was undertaken using an anonymous questionnaire. A sample of 42 women who had attended the clinic in the last 12 months was identified. The response rate for the study was 71% (n = 30).Two thirds of the respondents were 35 years of age or younger, 93% had a family history of haemophilia and 56% were diagnosed as carriers. Perceived understanding and knowledge increased significantly between the first and second appointments (p < 0.001). Overall, the study identified a high level of client satisfaction with the nurse-led carrier testing clinic and counselling service.
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http://dx.doi.org/10.12968/bjon.2012.21.14.864 | 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 PDFJ Gen Intern Med
January 2025
Department of Epidemiology, Columbia University Mailman School of Public Health, New York, NY, USA.
Background: In the United States (U.S.), the prevalence of anxiety and depression is increasing, yet significant barriers to mental health treatment remain.
View Article and Find Full Text PDFSci Rep
January 2025
Faculty of Education/Department of Guidance and Psychological Counseling, Ordu University, Ordu, Turkey.
Work-related quality of life has emerged as a central focus in the field of occupational health due to its impact on individual well-being and overall quality of life. So, it is crucial to enhance the current theory by conducting a study on the concept across different sectors. Also, the specific mechanisms through which perceived social support influences work-related quality of life remain underexplored.
View Article and Find Full Text PDFJMIR Pediatr Parent
January 2025
International Centre for Diarrhoeal Disease Research, Bangladesh, Dhaka, Bangladesh.
Background: Globally, 10% of pregnant women and 13% of postpartum women experience mental disorders. In Bangladesh, nearly 50% of mothers face common mental disorders, but mental health services and trained professionals to serve their needs are scarce. To address this, the government of Bangladesh's Non-Communicable Disease Control program initiated "Wellbeing Centers," telemental health services in selected public hospitals.
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