Efeitos do treinamento da musculatura do assoalho pélvico sobre o parto e recém-nascido: estudo controlado randomizado

BACKGROUND: The use of the pelvic floor muscle training for urinary incontinence treatment is well established but little is known about its effects in labor and newborn outcomes. OBJECTIVES: To evaluate the effects of antenatal pelvic floor muscle training and strength in labor and newborn outcomes in low-income pregnant women. METHODS: This is a randomized controlled trial that recruited forty-two nulliparous healthy pregnant women aged between 18-36 years old and able to contract the pelvic floor muscles. The participants were included in the study with 20 weeks of gestational age and had their pelvic floor muscles measured by vaginal squeeze pressure. They were randomly allocated into two groups: training group and a non-intervention control group. Then, all participants had their labor and newborn outcomes evaluated through consultation of medical records by a blinded researcher. RESULTS: There were no statistically significant differences between the groups regarding gestational age at birth, type of labor, duration of the second stage of labor, total time of labor, prevalence of laceration, weight and size of the baby, and Apgar score. No correlation was observed between pelvic floor muscle strength and the second stage or the total length of labor. CONCLUSIONS: This randomized controlled trial did not find any effect of pelvic floor muscle training or pelvic floor muscle strength on labor and newborn outcomes.CONTEXTUALIZAÇÃO: O treinamento da musculatura do assoalho pélvico para tratamento da incontinência urinária é bem estabelecida, mas pouco se sabe sobre seus efeitos sobre o parto e o recém-nascido. OBJETIVOS: Avaliar se os desfechos do parto e os resultados dos recém-nascidos são influenciados pelo treinamento e força da musculatura do assoalho pélvico realizados por gestantes de baixa renda. MÉTODOS: Trata-se de um ensaio clínico randomizado que incluiu 42 gestantes nulíparas de baixo risco, com idade entre 18 e 36 anos, e que eram capazes de contrair a musculatura do assoalho pélvico. As gestantes foram incluídas no estudo com 20 semanas de idade gestacional, e realizava-se a avaliação da pressão de contração vaginal pela contração da musculatura do assoalho pélvico. Elas foram randomizadas em dois grupos: grupo de treinamento e grupo controle. Todas as voluntárias tiveram o trabalho de parto e os resultados dos recém-nascidos avaliados por meio de consulta ao prontuário por um pesquisador não envolvido com o grupo de treinamento. RESULTADOS: Não houve diferença significativa entre os grupos quanto à idade gestacional no nascimento, tipo de parto, duração da segunda fase de trabalho de parto, tempo total de trabalho de parto, prevalência da laceração perineal, peso e tamanho do bebê e índice de Apgar. Nenhuma correlação foi encontrada entre a força muscular do assoalho pélvico e a segunda fase ou a duração total do trabalho de parto. CONCLUSÕES: Este ensaio clínico randomizado não verificou qualquer influência do treinamento muscular do assoalho pélvico e da força dos músculos do assoalho pélvico sobre o trabalho de parto e os resultados do recém-nascido

Hypovitaminosis A: cofactor of deleterious clinic outcome in human being

Importante foco de atenção em Saúde Pública tem sido a avaliação de determinados micronutrientes no ser humano, em especial aqueles que se encontram associados à vulnerabilidade orgânica, conseqüente ao desiquilíbrio ou à deficiência desses micronutrientes. Entre os micronutrientes, a hipovitaminose A tem sido objeto de realce devido à significante prevalência em populações de países em desenvolvimento. Este artigo aborda a Vitamina A, enfocando seu metabolismo e as repercussões deletérias, decorrentes de sua deficiência sobre o organismo, suas manifestações no ciclo gravidopuerperal, e sua interação em situações clínicas, específicas.An important focus of attention in Public Health has been micronutrient deficiency in human being because of the enhanced vulnerability of individuals to the effects of micronutrient deficiency or imbalance. Among all micronutrients deficiencies, vitamin A has been one of the most important public health problems, affecting a large percentage of people in developing countries. This article focus on a review of vitamin A metabolism, deleterious repercussions and association with several clinical and obstetrics conditions. It highlights hypovitaminosis A as cofactor of deleterious clinic outcome in human being

The role of the placenta in the vertical transmission of HIV-1

A transmissão vertical (TV) consiste na principal forma de infecção pelo HIV-1 em menores de 13 anos e estimativas apontam que em 25% dos casos a transmissão tenha ocorrido intraútero. Nessas circunstâncias, o vírus de alguma forma ultrapassa a membrana placentária e chega ao sangue fetal. Esta revisão tem como objetivo realizar uma breve descrição sobre os mecanismos presentes na placenta humana que são capazes de gerar susceptibilidade ou proteção à TV do HIV-1. As células placentárias produzem um enorme grupo de citocinas, quimiocinas, hormônios e receptores que podem contribuir com o desfecho da transmissão do vírus ao concepto. Além disso, a capacidade do vírus de infectar as células placentárias também pode contribuir com a sua transmissão. Entretanto, o mecanismo pelo qual o vírus é capaz de sobrepujar a membrana placentária e as consequências dessa infecção no tecido placentário não estão totalmente elucidados. Dessa forma, novas pesquisas nessa área poderão contribuir com o desenvolvimento de estratégias profiláticas eficazes para redução da TV do HIV-1Vertical transmission (VT) is the main form of infection by HIV-1 in children under 13 years and estimates show that in 25% of cases intrauterine transmission has occurred. Under these circumstances, the virus somehow overcomes the placental membrane and reaches the fetal blood. This review aims to conduct a brief description of the mechanisms present in human placenta that are capable of generating susceptibility or resistance to VT of HIV-1. Placental cells produces a huge group of cytokines, chemokines, hormones and receptors that may contribute to the outcome of virus transmission to the fetus. Moreover, the ability of the virus to infect placental cells can also contribute to its transmission. However, the mechanism by which the virus is able to overcome the placental tissue is not fully elucidated. Thus, further research in this area may contribute to the development of effective preventive strategies to reduce the VT of HIV-

Early impact of the COVID-19 pandemic on paediatric cancer care in Latin America

Although previous studies have suggested that the complications and mortality rate related to COVID-19 are substantially lower in the paediatric population,1 it is reasonable to consider that children with underlying conditions such as cancer will be at increased risk of severe disease...Fil: Vasquez, Liliana. Universidad de San Martín de Porres; Perú. Organización Panamericana de la Salud; PerúFil: Sampor, Claudia. Fundacion Hospital de Pediatria Professor Dr. Juan P. Garrahan; ArgentinaFil: Villanueva, Gabriela. Fundacion Hospital de Pediatria Professor Dr. Juan P. Garrahan; ArgentinaFil: Maradiegue, Essy. Instituto Nacional de Enfermedades Neoplasicas; PerúFil: Garcia Lombardi, Mercedes. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; ArgentinaFil: Gomez García, Wendy. Hospital Infantil Dr. Robert Reid Cabral; República DominicanaFil: Moreno, Florencia. Ministerio de Salud. Instituto Nacional del Cáncer; ArgentinaFil: Diaz, Rosdali. Instituto Nacional de Enfermedades Neoplasicas; PerúFil: Cappellano, Andrea M.. Universidade Federal de Sao Paulo; BrasilFil: Portilla, Carlos Andres. Universidad del Valle; ColombiaFil: Salas, Beatriz. Hospital del Niño Manuel Ascencio Villarroel; BoliviaFil: Nava, Evelinda. Hospital de Niños Jesus Garcia Coello; VenezuelaFil: Brizuela, Silvia. Instituto de Previsión Social ; ParaguayFil: Jimenez, Soledad. Hospital Solca Núcleo de Loja; EcuadorFil: Espinoza, Ximena. Hospital de Niños Dr. Roberto del Río; ChileFil: Gassant, Pascale Yola. Hôpital Saint-Damien; HaitíFil: Quintero, Karina. Children's Hospital Dr Jose Renan Esquivel; PanamáFil: Fuentes Alabi, Soad. Hospital Nacional de Niños Benjamin Bloom; El SalvadorFil: Velasquez, Thelma. No especifíca;Fil: Fu, Ligia. Hospital Escuela de Tegucigalpa; HondurasFil: Gamboa, Yessika. National Children's Hospital; Costa RicaFil: Quintana, Juan. Clinica Las Condes; ChileFil: Castiglioni, Mariela. Hospital Pereira Rossell; UruguayFil: Nuñez, Cesar. Children's Cancer Hospital; Estados UnidosFil: Moreno, Arturo. Hospital Universitario de Puebla; MéxicoFil: Luna Fineman, Sandra. State University of Colorado at Boulder; Estados UnidosFil: Luciani, Silvana. Pan American Health Organization; Estados UnidosFil: Chantada, Guillermo Luis. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Hospital Sant Joan de Deu Barcelona; Españ

Applying the Maternal Near Miss Approach for the Evaluation of Quality of Obstetric Care: A Worked Example from a Multicenter Surveillance Study

Objective. To assess quality of care of women with severe maternal morbidity and to identify associated factors. Method. This is a national multicenter cross-sectional study performing surveillance for severe maternal morbidity, using the World Health Organization criteria. the expected number of maternal deaths was calculated with the maternal severity index (MSI) based on the severity of complication, and the standardized mortality ratio (SMR) for each center was estimated. Analyses on the adequacy of care were performed. Results. 17 hospitals were classified as providing adequate and 10 as nonadequate care. Besides almost twofold increase in maternal mortality ratio, the main factors associated with nonadequate performance were geographic difficulty in accessing health services (P < 0.001), delays related to quality of medical care (P = 0.012), absence of blood derivatives (P = 0.013), difficulties of communication between health services (P = 0.004), and any delay during the whole process (P = 0.039). Conclusions. This is an example of how evaluation of the performance of health services is possible, using a benchmarking tool specific to Obstetrics. in this study the MSI was a useful tool for identifying differences in maternal mortality ratios and factors associated with nonadequate performance of care.Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Univ Campinas UNICAMP, Sch Med Sci, Dept Obstet & Gynaecol, BR-13083881 Campinas, SP, BrazilCtr Res Reprod Hlth Campinas Cemicamp, BR-13083888 Campinas, SP, BrazilUniv Fed Amazonas, Manaus, Amazonas, BrazilSch Med Sci, CISAM, Recife, PE, BrazilUniv Fed Ceara, Fortaleza, Ceara, BrazilUniv Fed Bahia, Salvador, BA, BrazilHosp Geral Cesar Cals, Fortaleza, Ceara, BrazilHosp Geral Fortaleza, Fortaleza, Ceara, BrazilMaternidade Odete Valadares, Belo Horizonte, MG, BrazilHosp Materno Infantil, Goiania, Go, BrazilInst Materno Infantil Pernambuco, Recife, PE, BrazilUniv Fed Pernambuco, Recife, PE, BrazilUniv Fed Campina Grande, Campina Grande, PB, BrazilUniv Fed Maranhao, Sao Luis, MA, BrazilUniv Fed Parana, BR-80060000 Curitiba, Parana, BrazilUniv Fed Paraiba, BR-58059900 Joao Pessoa, Paraiba, BrazilHosp Maternidade Fernando Magalhaes, Rio de Janeiro, RJ, BrazilUniv Fed Rio Grande do Sul, Porto Alegre, RS, BrazilHosp Maternidade Celso Pierro, Campinas, SP, BrazilInst Fernandes Figueira Fiocruz, Rio de Janeiro, RJ, BrazilHosp Israelita Albert Einstein, São Paulo, BrazilUniv State São Paulo, Botucatu, SP, BrazilJundiai Sch Med, Jundiai, SP, BrazilUniv São Paulo, BR-14049 Ribeirao Preto, SP, BrazilSanta Casa Limeira, Limeira, SP, BrazilSanta Casa Sao Carlos, Sao Carlos, SP, BrazilMaternidade Leonor Mendes de Barros, São Paulo, BrazilUniversidade Federal de São Paulo, São Paulo, BrazilUniversidade Federal de São Paulo, São Paulo, BrazilCNPq: 402702/2008-5Web of Scienc

Inferring the Demographic History of African Farmers and Pygmy Hunter–Gatherers Using a Multilocus Resequencing Data Set

The transition from hunting and gathering to farming involved a major cultural innovation that has spread rapidly over most of the globe in the last ten millennia. In sub-Saharan Africa, hunter–gatherers have begun to shift toward an agriculture-based lifestyle over the last 5,000 years. Only a few populations still base their mode of subsistence on hunting and gathering. The Pygmies are considered to be the largest group of mobile hunter–gatherers of Africa. They dwell in equatorial rainforests and are characterized by their short mean stature. However, little is known about the chronology of the demographic events—size changes, population splits, and gene flow—ultimately giving rise to contemporary Pygmy (Western and Eastern) groups and neighboring agricultural populations. We studied the branching history of Pygmy hunter–gatherers and agricultural populations from Africa and estimated separation times and gene flow between these populations. We resequenced 24 independent noncoding regions across the genome, corresponding to a total of ∼33 kb per individual, in 236 samples from seven Pygmy and five agricultural populations dispersed over the African continent. We used simulation-based inference to identify the historical model best fitting our data. The model identified included the early divergence of the ancestors of Pygmy hunter–gatherers and farming populations ∼60,000 years ago, followed by a split of the Pygmies' ancestors into the Western and Eastern Pygmy groups ∼20,000 years ago. Our findings increase knowledge of the history of the peopling of the African continent in a region lacking archaeological data. An appreciation of the demographic and adaptive history of African populations with different modes of subsistence should improve our understanding of the influence of human lifestyles on genome diversity

Skin color and severe maternal outcomes: evidence from the brazilian network for surveillance of severe maternal morbidity

Taking into account the probable role that race/skin color may have for determining outcomes in maternal health, the objective of this study was to assess whether maternal race/skin color is a predictor of severe maternal morbidity. This is a secondary analysis of the Brazilian Network for Surveillance of Severe Maternal Morbidity, a national multicenter cross-sectional study of 27 Brazilian referral maternity hospitals. A prospective surveillance was performed to identify cases of maternal death (MD), maternal near miss (MNM) events, and potentially life-threatening conditions (PLTC), according to standard WHO definition and criteria. Among 9,555 women with severe maternal morbidity, data on race/skin color was available for 7,139 women, who were further divided into two groups: 4,108 nonwhite women (2,253 black and 1,855 from other races/skin color) and 3,031 white women. Indicators of severe maternal morbidity according to WHO definition are shown by skin color group. Adjusted Prevalence Ratios (PRadj - 95%CI) for Severe Maternal Outcome (SMO=MNM+MD) were estimated according to sociodemographic/obstetric characteristics, pregnancy outcomes, and perinatal results considering race. Results. Among 7,139 women with severe maternal morbidity evaluated, 90.5% were classified as PLTC, 8.5% as MNM, and 1.6% as MD. There was a significantly higher prevalence of MNM and MD among white women. MNMR (maternal near miss ratio) was 9.37 per thousand live births (LB). SMOR (severe maternal outcome ratio) was 11.08 per 1000 LB, and MMR (maternal mortality ratio) was 170.4 per 100,000 LB. Maternal mortality to maternal near miss ratio was 1 to 5.2, irrespective of maternal skin color. Hypertension, the main cause of maternal complications, affected mostly nonwhite women. Hemorrhage, the second more common cause of maternal complication, predominated among white women. Nonwhite skin color was associated with a reduced risk of SMO in multivariate analysis. Nonwhite skin color was associated with a lower risk for severe maternal outcomes. This result could be due to confounding factors linked to a high rate of Brazilian miscegenation.2019CNPQ - Conselho Nacional de Desenvolvimento Científico e Tecnológico402702/2008-

First Latin American clinical practice guidelines for the treatment of systemic lupus erythematosus: Latin American Group for the Study of Lupus (GLADEL, Grupo Latino Americano de Estudio del Lupus)-Pan-American League of Associations of Rheumatology (PANLAR)

Systemic lupus erythematosus (SLE), a complex and heterogeneous autoimmune disease, represents a significant challenge for both diagnosis and treatment. Patients with SLE in Latin America face special problems that should be considered when therapeutic guidelines are developed. The objective of the study is to develop clinical practice guidelines for Latin American patients with lupus. Two independent teams (rheumatologists with experience in lupus management and methodologists) had an initial meeting in Panama City, Panama, in April 2016. They selected a list of questions for the clinical problems most commonly seen in Latin American patients with SLE. These were addressed with the best available evidence and summarised in a standardised format following the Grading of Recommendations Assessment, Development and Evaluation approach. All preliminary findings were discussed in a second face-to-face meeting in Washington, DC, in November 2016. As a result, nine organ/system sections are presented with the main findings; an 'overarching' treatment approach was added. Special emphasis was made on regional implementation issues. Best pharmacologic options were examined for musculoskeletal, mucocutaneous, kidney, cardiac, pulmonary, neuropsychiatric, haematological manifestations and the antiphospholipid syndrome. The roles of main therapeutic options (ie, glucocorticoids, antimalarials, immunosuppressant agents, therapeutic plasma exchange, belimumab, rituximab, abatacept, low-dose aspirin and anticoagulants) were summarised in each section. In all cases, benefits and harms, certainty of the evidence, values and preferences, feasibility, acceptability and equity issues were considered to produce a recommendation with special focus on ethnic and socioeconomic aspects. Guidelines for Latin American patients with lupus have been developed and could be used in similar settings.Fil: Pons Estel, Bernardo A.. Centro Regional de Enfermedades Autoinmunes y Reumáticas; ArgentinaFil: Bonfa, Eloisa. Universidade de Sao Paulo; BrasilFil: Soriano, Enrique R.. Instituto Universitario Hospital Italiano de Buenos Aires. Rectorado.; ArgentinaFil: Cardiel, Mario H.. Centro de Investigación Clínica de Morelia; MéxicoFil: Izcovich, Ariel. Hospital Alemán; ArgentinaFil: Popoff, Federico. Hospital Aleman; ArgentinaFil: Criniti, Juan M.. Hospital Alemán; ArgentinaFil: Vásquez, Gloria. Universidad de Antioquia; ColombiaFil: Massardo, Loreto. Universidad San Sebastián; ChileFil: Duarte, Margarita. Hospital de Clínicas; ParaguayFil: Barile Fabris, Leonor A.. Hospital Angeles del Pedregal; MéxicoFil: García, Mercedes A.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Amigo, Mary Carmen. Centro Médico Abc; MéxicoFil: Espada, Graciela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; ArgentinaFil: Catoggio, Luis J.. Hospital Italiano. Instituto Universitario. Escuela de Medicina; ArgentinaFil: Sato, Emilia Inoue. Universidade Federal de Sao Paulo; BrasilFil: Levy, Roger A.. Universidade do Estado de Rio do Janeiro; BrasilFil: Acevedo Vásquez, Eduardo M.. Universidad Nacional Mayor de San Marcos; PerúFil: Chacón Díaz, Rosa. Policlínica Méndez Gimón; VenezuelaFil: Galarza Maldonado, Claudio M.. Corporación Médica Monte Sinaí; EcuadorFil: Iglesias Gamarra, Antonio J.. Universidad Nacional de Colombia; ColombiaFil: Molina, José Fernando. Centro Integral de Reumatología; ColombiaFil: Neira, Oscar. Universidad de Chile; ChileFil: Silva, Clóvis A.. Universidade de Sao Paulo; BrasilFil: Vargas Peña, Andrea. Hospital Pasteur Montevideo; UruguayFil: Gómez Puerta, José A.. Hospital Clinic Barcelona; EspañaFil: Scolnik, Marina. Instituto Universitario Hospital Italiano de Buenos Aires. Rectorado.; ArgentinaFil: Pons Estel, Guillermo J.. Centro Regional de Enfermedades Autoinmunes y Reumáticas; Argentina. Hospital Provincial de Rosario; ArgentinaFil: Ugolini Lopes, Michelle R.. Universidade de Sao Paulo; BrasilFil: Savio, Verónica. Instituto Universitario Hospital Italiano de Buenos Aires. Rectorado.; ArgentinaFil: Drenkard, Cristina. University of Emory; Estados UnidosFil: Alvarellos, Alejandro J.. Hospital Privado Universitario de Córdoba; ArgentinaFil: Ugarte Gil, Manuel F.. Universidad Cientifica del Sur; Perú. Hospital Nacional Guillermo Almenara Irigoyen; PerúFil: Babini, Alejandra. Instituto Universitario Hospital Italiano de Buenos Aires. Rectorado.; ArgentinaFil: Cavalcanti, André. Universidade Federal de Pernambuco; BrasilFil: Cardoso Linhares, Fernanda Athayde. Hospital Pasteur Montevideo; UruguayFil: Haye Salinas, Maria Jezabel. Hospital Privado Universitario de Córdoba; ArgentinaFil: Fuentes Silva, Yurilis J.. Universidad de Oriente - Núcleo Bolívar; VenezuelaFil: Montandon De Oliveira E Silva, Ana Carolina. Universidade Federal de Goiás; BrasilFil: Eraso Garnica, Ruth M.. Universidad de Antioquia; ColombiaFil: Herrera Uribe, Sebastián. Hospital General de Medellin Luz Castro de Gutiérrez; ColombiaFil: Gómez Martín, DIana. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: Robaina Sevrini, Ricardo. Universidad de la República; UruguayFil: Quintana, Rosana M.. Hospital Provincial de Rosario; Argentina. Centro Regional de Enfermedades Autoinmunes y Reumáticas; ArgentinaFil: Gordon, Sergio. Hospital Interzonal General de Agudos Dr Oscar Alende. Unidad de Reumatología y Enfermedades Autoinmunes Sistémicas; ArgentinaFil: Fragoso Loyo, Hilda. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: Rosario, Violeta. Hospital Docente Padre Billini; República DominicanaFil: Saurit, Verónica. Hospital Privado Universitario de Córdoba; ArgentinaFil: Appenzeller, Simone. Universidade Estadual de Campinas; BrasilFil: Dos Reis Neto, Edgard Torres. Universidade Federal de Sao Paulo; BrasilFil: Cieza, Jorge. Hospital Nacional Edgardo Rebagliati Martins; PerúFil: González Naranjo, Luis A.. Universidad de Antioquia; ColombiaFil: González Bello, Yelitza C.. Ceibac; MéxicoFil: Collado, María Victoria. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Sarano, Judith. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Retamozo, Maria Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Ciencias de la Salud. Universidad Nacional de Córdoba. Instituto de Investigaciones en Ciencias de la Salud; ArgentinaFil: Sattler, María E.. Provincia de Buenos Aires. Ministerio de Salud. Hospital Interzonal de Agudos "Eva Perón"; ArgentinaFil: Gamboa Cárdenas, Rocio V.. Hospital Nacional Guillermo Almenara Irigoyen; PerúFil: Cairoli, Ernesto. Universidad de la República; UruguayFil: Conti, Silvana M.. Hospital Provincial de Rosario; ArgentinaFil: Amezcua Guerra, Luis M.. Instituto Nacional de Cardiologia Ignacio Chavez; MéxicoFil: Silveira, Luis H.. Instituto Nacional de Cardiologia Ignacio Chavez; MéxicoFil: Borba, Eduardo F.. Universidade de Sao Paulo; BrasilFil: Pera, Mariana A.. Hospital Interzonal General de Agudos General San Martín; ArgentinaFil: Alba Moreyra, Paula B.. Universidad Nacional de Córdoba. Facultad de Medicina; ArgentinaFil: Arturi, Valeria. Hospital Interzonal General de Agudos General San Martín; ArgentinaFil: Berbotto, Guillermo A.. Provincia de Buenos Aires. Ministerio de Salud. Hospital Interzonal de Agudos "Eva Perón"; ArgentinaFil: Gerling, Cristian. Hospital Interzonal General de Agudos Dr Oscar Alende. Unidad de Reumatología y Enfermedades Autoinmunes Sistémicas; ArgentinaFil: Gobbi, Carla Andrea. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Gervasoni, Viviana L.. Hospital Provincial de Rosario; ArgentinaFil: Scherbarth, Hugo R.. Hospital Interzonal General de Agudos Dr Oscar Alende. Unidad de Reumatología y Enfermedades Autoinmunes Sistémicas; ArgentinaFil: Brenol, João C. Tavares. Hospital de Clinicas de Porto Alegre; BrasilFil: Cavalcanti, Fernando. Universidade Federal de Pernambuco; BrasilFil: Costallat, Lilian T. Lavras. Universidade Estadual de Campinas; BrasilFil: Da Silva, Nilzio A.. Universidade Federal de Goiás; BrasilFil: Monticielo, Odirlei A.. Hospital de Clinicas de Porto Alegre; BrasilFil: Seguro, Luciana Parente Costa. Universidade de Sao Paulo; BrasilFil: Xavier, Ricardo M.. Hospital de Clinicas de Porto Alegre; BrasilFil: Llanos, Carolina. Universidad Católica de Chile; ChileFil: Montúfar Guardado, Rubén A.. Instituto Salvadoreño de la Seguridad Social; El SalvadorFil: Garcia De La Torre, Ignacio. Hospital General de Occidente; MéxicoFil: Pineda, Carlos. Instituto Nacional de Rehabilitación; MéxicoFil: Portela Hernández, Margarita. Umae Hospital de Especialidades Centro Medico Nacional Siglo Xxi; MéxicoFil: Danza, Alvaro. Hospital Pasteur Montevideo; UruguayFil: Guibert Toledano, Marlene. Medical-surgical Research Center; CubaFil: Reyes, Gil Llerena. Medical-surgical Research Center; CubaFil: Acosta Colman, Maria Isabel. Hospital de Clínicas; ParaguayFil: Aquino, Alicia M.. Hospital de Clínicas; ParaguayFil: Mora Trujillo, Claudia S.. Hospital Nacional Edgardo Rebagliati Martins; PerúFil: Muñoz Louis, Roberto. Hospital Docente Padre Billini; República DominicanaFil: García Valladares, Ignacio. Centro de Estudios de Investigación Básica y Clínica; MéxicoFil: Orozco, María Celeste. Instituto de Rehabilitación Psicofísica; ArgentinaFil: Burgos, Paula I.. Pontificia Universidad Católica de Chile; ChileFil: Betancur, Graciela V.. Instituto de Rehabilitación Psicofísica; ArgentinaFil: Alarcón, Graciela S.. Universidad Peruana Cayetano Heredia; Perú. University of Alabama at Birmingahm; Estados Unido

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies : an international multicenter retrospective study

Background: Immunodysregulation polyendocrinopathy enteropathy x-linked(IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined. Objective: This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors. Methods: Clinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed. Results: We confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n 5 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS. Conclusions: Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term.disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen