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Brazil is a continent-size country with around 190 million inhabitants, the largest and most populous in South America. It is classified as a developing upper middle-income country and having considerable growth, although inequality remains significant. The health system is mixed; most of the population is served by the public Unified Health System ("Sistema Único de Saúde", SUS) and there is a thriving private health sector. The country faces multiple obstacles to improve and expand genetic services, due to its wide territory, sociocultural inequalities and major basic health problems. Most comprehensive genetic services are concentrated in large urban centers in the South and Southeast regions, mainly in tertiary care university hospitals. Demand for genetic services has increased and congenital malformations has been the second cause of infant mortality since 2000, but such data did not determine government policies or initiatives for the prevention and management of this group of problems until 2004, when the process for introducing medical genetics as a health policy by the Ministry of Health began. Details on the policy and an overview on congenital and genetic diseases, the state and availability of genetic services, genetic testing, medical genetics laboratories, training of human resources in medical genetics, newborn screening program, genetics networks, special care facilities, as well as educational, social and support programs for disabled people, research priorities in genetics and genomics, patient organizations and relevant issues regarding the challenge of implementing a comprehensive care policy in clinical genetics in this vast and diverse country are presented.
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http://dx.doi.org/10.1007/s12687-012-0108-y | DOI Listing |
Mol Psychiatry
September 2025
Nencki Institute of Experimental Biology of Polish Academy of Sciences, 3 Pasteur St., Warsaw, 02-093, Poland.
Alcohol use disorder (AUD) is characterized by pathological motivation to consume alcohol and cognitive inflexibility, leading to excessive alcohol seeking and use. In this study, we investigated the molecular correlates of impaired extinction of alcohol seeking during forced abstinence using a mouse model of AUD in the automated IntelliCage social system. This model distinguished AUD-prone and AUD-resistant animals based on the presence of ≥2 or <2 criteria of AUD, respectively.
View Article and Find Full Text PDFMol Psychiatry
September 2025
National Center for PTSD, Behavioral Science Division, VA Boston Healthcare System, Boston, MA, 02130, USA.
Glial fibrillary acidic protein (GFAP) is an astrocytic marker that can be assessed in blood using single molecule array technology. Recent studies suggest that individuals with posttraumatic stress disorder (PTSD) have suppressed circulating levels of this CNS biomarker. This study examined the hypothesis that PTSD and plasma GFAP levels share common genetic and epigenetic pathways.
View Article and Find Full Text PDFMol Psychiatry
September 2025
Section on Clinical Genomics and Experimental Therapeutics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, MD, USA.
Pharmacological modulation of glucagon-like peptide-1 (GLP-1) and glucose-dependent insulinotropic polypeptide (GIP) through dual GIP/GLP-1 receptor agonists, commonly used for diabetes and obesity, shows promise in reducing alcohol consumption. We applied drug-target Mendelian randomization (MR) using genetic variation at these loci to assess their long-term effects on problematic alcohol use (PAU), binge drinking, alcohol misuse classifications, liver health, and other substance use behaviors. Genetic proxies for lowered BMI, modeling the appetite-suppressing and weight-reducing effects of variants in both the GIPR and GLP1R loci ("GIPR/GLP1R"), were linked with reduced binge drinking in the primary (β = -0.
View Article and Find Full Text PDFJ Invest Dermatol
September 2025
Department of Social Medicine and Health Management, Xiangya School of Public Health, Central South University, Changsha 410008, China; Department of Dermatology, Xiangya Hospital, Central South University, Changsha, China; Furong Laboratory, Changsha, China; Hunan Key Laboratory of Skin Cancer and
Psoriasis is a chronic, immune-mediated inflammatory skin disorder affecting approximately 100 million people worldwide. This study aimed to understand the global impact of psoriasis on health and economics over the past three decades. we analyzed trends in psoriasis cases, its effects on people's quality of life, and the associated costs.
View Article and Find Full Text PDFFront Health Serv
August 2025
Department of Medical Laboratory Sciences, University of Nigeria, Enugu, Nigeria.
Introduction: In sub-Saharan Africa, the burden of sickle cell disease remains high. With annual sickle cell births of about 150,000, Nigeria is reported to have the highest prevalence of the disease globally. This study aimed to explore the views and perspectives of healthcare professionals regarding access to healthcare services for sickle cell disease.
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