Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. Results: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society

A saúde neonatal na perspectiva de atenção contínua à saúde da mulher e da criança La atención neonatal en la perspectiva de la atención continua a la salud de las mujeres y niños The neonatal care from the perspective of continuous attention to woman and child's health

O estudo é uma revisão narrativa de teses e dissertações concluídas no período de 2000 a 2009 produzidas pelo Grupo de Pesquisa Enfermagem Obstétrica e Neonatal e pelo Núcleo de Estudos e Pesquisa em Aleitamento Materno da Escola de Enfermagem da Universidade de São Paulo que focalizaram os fatores maternos e perinatais que repercutem na saúde neonatal. A produção científica evidencia alinhamento com as diretrizes estabelecidas pelos órgãos de saúde nacionais e internacionais para a promoção da saúde neonatal e infantil.<br>El estudio es una revisión de la literatura de tesis y disertaciones producidas en el periodo de 2000 hasta 2009 por el Grupo de Investigación de Enfermería Obstétrica y Neonatal y por el Centro de Estudios y Investigación en Lactancia Materna de la Escuela de Enfermería de la Universidad de São Paulo, que se centró en las repercusiones maternas y perinatales en la salud del recién nacidos. La producción científica se muestra de acuerdo con las directrices para promover la salud neonatal y infantil establecidas por los organismos de salud nacionales e internacionales.<br>The study is a literature review of theses and dissertations concluded from 2000 to 2009 developed by the Obstetric and Neonatal Nursing Research Group and Breastfeeding Center for Studies and Research of Nursing School, University of São Paulo, which focused on the maternal and perinatal impact on neonatal health. The scientific production shows agreement with the guidelines to promote neonatal and infant health established by national and international health agencies