In the South American Republic of Chile genetic counseling is not currently recognized as an independent clinical discipline, and in general is provided by physicians with training in clinical genetics. At present only one genetic counselor and 28 clinical geneticists practice in this country of over 16 million inhabitants. Pediatric dysmorphology constitutes the primary area of practice in clinical genetics. Although the country has a universal health care system and an adequate level of health care, genetic conditions are not considered a health care priority and there is a lack of clinical and laboratory resources designated for clinical genetics services. Multiple educational, cultural and financial barriers exist to the growth and development of genetic counseling services in Chile. However, during the last 10 years increased awareness of the importance of identifying individuals at risk for inherited cancer syndromes led to growing interest in the practice of cancer genetics.
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http://dx.doi.org/10.1007/s10897-013-9607-1 | DOI Listing |
Med J Malaysia
January 2025
Klinik Kesihatan Seksyen 7, PKD Petaling, Ministry of Health Malaysia, Selangor, Malaysia.
Introduction: Cancer is one of the leading causes of morbidity and mortality worldwide. Breast cancer risk has risen due to lifestyle choices and genetic factors. Women with breast cancer symptoms experience lower quality of life (QoL), particularly in psychological and physical domains, compared to healthy women.
View Article and Find Full Text PDFTunis Med
January 2025
University of Sfax, Military University Hospital of Sfax, Cardiology Department, Sfax, Tunisia.
Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.
View Article and Find Full Text PDFInt J Gynaecol Obstet
January 2025
Robinson Research Institute, University of Adelaide, Adelaide, Australia.
Fertility preservation services must offer information to patients, prior to their visit, so that they have time to read and digest the information, and also have the opportunity to write down any questions they wish to ask at the oncofertility consultation appointment. Appointments must be offered immediately, based on a specifically designed referral form. Each fertility service providing oncology cryopreservation should have a robust map of the patient's journey to include referral, counseling session, medical consultation, informed consent, treatment plan, and follow-up.
View Article and Find Full Text PDFCancer Med
January 2025
Nuffield Department of Primary Care Health Sciences, University of Oxford, Oxford, UK.
Background: In the UK's National Health Service (NHS), there is specific psychosocial care offered to people with genetic cancer risk conditions but not morphological cancer risk conditions. As researchers develop new ways to diagnose morphological risk conditions, including precancers and in situ cancers, it is important to consider the psychosocial care that those diagnosed might require.
Objectives: This study compares the National Institute for Health and Care Excellence's guidelines for BRCA1/2, which are genetic risk conditions, and Barrett's oesophagus (BO), a morphological risk condition.
Cureus
December 2024
Department of Pediatrics, Military Hospital, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
Trichohepatoenteric syndrome (THES) is a rare genetic disorder inherited in an autosomal recessive manner. THES primarily leads to neonatal enteropathy, typically manifesting as severe, persistent diarrhea, distinctive facial features such as frontal bossing and a broad flat nasal bridge, woolly and fragile hair, immunodeficiency resulting in recurrent infections, failure to thrive (FTT), and liver complications including fibrosis or cirrhosis. This multisystem disorder is linked to mutations in the tetratricopeptide repeat domain 37 (TTC37) gene, also known as superkiller complex (SKIC) protein 3, responsible for THES type 1, and the Ski2-like ribonucleic acid (RNA) helicase (SKIV2L) gene, also known as SKIC2, responsible for THES type 2.
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