ABSTRACT
Fabry disease (FD) is a multisystem lysosomal storage disorder induced by genetic variants in the alpha-galactosidase A (αGalA) gene. Some FD patients have GLA variants with a reduction in overall αGalA enzymatic activity due to mutated proteins with reduced stability, caused by protein misfolding and premature degradation, but the αGalA catalytic activity remains conserved ("amenable" genetic variants). To correct this misfolding and to prevent premature degradation, migalastat, a small iminosugar molecule was developed. We report the clinical characteristics of FD "amenable" cohort patients from Argentina, prior to starting treatment with migalastat. Seventeen Fabry adult patients were recruited from 13 Argentinian Centers; 8 males (47.1%) and 9 females (52.9%) were included. All genotypes included were missense-type "amenables" mutations. Some classic FD typical early manifestations were more frequent in patients with "classic" versus "late-onset" FD phenotype (pain, p=0.002; cornea verticillata, p=0.019). There was a statistically significant difference in estimated glomerular filtration rate in the "classic" versus "late-onset" phenotype (p=0.026) but no difference between genders (p=0.695). Left ventricular mass was similar between genders (p=0.145) and phenotypes (p=0.303). Cardiovascular risk factors were present among "late-onset" females (obesity 50% and smoke 25%). In patients who started "de novo" migalastat, the main indications were (i) heart disease, (ii) kidney damage, and (iii) pain, while in "switched from prior enzyme replacement therapy" patients, the most frequent indication was "patient decision;" this coincides with publications by other authors.
Subject(s)
1-Deoxynojirimycin/analogs & derivatives , Fabry Disease , Adult , Humans , Male , Female , Fabry Disease/epidemiology , Fabry Disease/genetics , Fabry Disease/drug therapy , 1-Deoxynojirimycin/therapeutic use , alpha-Galactosidase/genetics , alpha-Galactosidase/metabolism , alpha-Galactosidase/therapeutic use , Pain/chemically induced , Pain/drug therapyABSTRACT
The article focuses the recent dynamics resulting from state institutions adding more legal and regulatory barriers to abortion care access, particularly against the use of telemedicine for sexual violence victims in Brazil. It presents a case study from a lawsuit targeting a pioneer public health service on the city of Uberlandia to ban telemedicine in abortion care. The case study highlights human rights violations of women's right to health as well as the recent threats to the right to safe legal abortion care. It also provides legal arguments-based on scientific evidence and international human rights standards-that support the use of telemedicine for abortion care.
Subject(s)
Abortion, Induced , Abortion, Legal , Argentina , Brazil , Female , Humans , Latin America , Pregnancy , UruguayABSTRACT
In 2011, the UN Convention on the Elimination of All Forms of Discrimination Against Women (CEDAW) issued a groundbreaking decision in the case of Alyne da Silva Pimentel Teixeira versus Brazil involving the maternal death of a young Afro-Brazilian woman. The CEDAW addressed systemic failures in the Brazilian health system that combined to violate Alyne's rights to life, health, and access to maternal health services. Almost 5 years later, after significant back and forth between the concerned parties, a technical follow-up commission was created with the support of the Center for Reproductive Rights, and was welcomed by the government of Brazil. The technical follow-up commission was precedent-setting, seeking to move beyond identifying gaps in "compliance" and concentrate instead on issues that might catalyze re-engagement by national level stakeholders, both governmental and non-governmental, with the aim of advancing CEDAW's recommendations through not only the creation, but also the effective implementation, of policies and programs that promote women's sexual and reproductive rights in practice, including their rights to safe motherhood. Here, the human-rights-based framework of the technical follow-up commission is described, in addition to their findings related to legal and policy frameworks, evidence-based programing, and monitoring and oversight of providers.
Subject(s)
Human Rights/legislation & jurisprudence , Maternal Death , Maternal Health Services/standards , Women's Rights/legislation & jurisprudence , Brazil , Female , Humans , Maternal Mortality , PregnancyABSTRACT
This commentary examines the outcome of the First Latin American Regional Conference on Population and Development, held in Montevideo in August of 2013 to mark the twentieth anniversary of the International Conference on Population and Development (ICPD) and adopt forward-looking recommendations. While highly appraising the outcomes, this article maps the policy paradoxes of ICPD implementation in Latin America, in particular with regard to abortion, and charts challenges ahead to sustain the intersectional vision propelled by the 1994 Cairo Conference.
Subject(s)
Congresses as Topic , Consensus , Reproductive Rights , Americas , Female , HIV Infections/prevention & control , Humans , Internationality , Male , NegotiatingABSTRACT
Se presenta el análisis de 135 pacientes, incluidos en el P.A.N.H. Se establece el protocolo de valoración nutricional, la clasificación de las deficiencias nutricionales, discriminación por edades y patologías. Se discuten los hallazgos y se presenta bibliografía por patología. El estudio resalta la utilidad y el impacto del program de nutrición en la evolución de los pacientes
Subject(s)
Humans , Male , Female , Applied Nutrition Programs , Nutrition for Vulnerable Groups , Parenteral Nutrition , Food PlanningABSTRACT
Se presenta el análisis de 135 pacientes, incluidos en el P.A.N.H. Se establece el protocolo de valoración nutricional, la clasificación de las deficiencias nutricionales, discriminación por edades y patologías. Se discuten los hallazgos y se presenta bibliografía por patología. El estudio resalta la utilidad y el impacto del program de nutrición en la evolución de los pacientes (AU)
