Background: Lower socioeconomic status is generally associated with an increased risk of end-stage renal disease (ESRD). The relationship between community characteristics reflecting socioeconomic status and familial aggregation of common forms of ESRD has not been studied.
Methods: Demographic data and family history of ESRD were collected from 23,880 incident dialysis patients in ESRD Network 6 between 1995 and 2003. Addresses were geocoded and linked to the 2000 census 5-digit zip code-level database that includes community demographic, social and economic characteristics. Clustering of patients having a family history of ESRD at the community level was accounted for using a generalized estimating equations (GEE) model. Multivariate analysis estimated associations between family history of ESRD and community-level characteristics.
Results: Twenty-three percent of patients reported a family history of ESRD. After adjusting for individual demographic characteristics, multivariate analyses failed to reveal statistically significant relationships between a family history of ESRD and indicators of community socioeconomic status such as median household income, percentage high school graduates, percentage vacant housing units or ethnic composition.
Conclusions: Although select community measures of lower socioeconomic status may contribute to the familial clustering of ESRD, non-socioeconomic factors, potentially inherited, appear to be more important contributors to familial aggregation of the common forms of ESRD.
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http://dx.doi.org/10.1159/000243716 | DOI Listing |
Neurology
February 2025
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Objectives: To analyze sex differences in outcomes in Tourette syndrome (TS) and Persistent Motor or Vocal tic disorders (PMVT) in the Tourette Association of America International Consortium for Genetics (TAAICG) dataset.
Methods: The relationship between sex and clinical measures was explored in 2,403 participants (N = 2,109 with TS; N = 294 with PMVT) from the TAAICG dataset using generalized estimating equation regression models, and adjusted for age and family relationships.
Results: Female (vs male) participants with TS (25.
Rev Gaucha Enferm
January 2025
Universidade Federal de São João del-Rei (UFSJ), Faculdade de Enfermagem, Programa de Pós-Graduação em Enfermagem. Divinópolis, Minas Gerais, Brasil.
Objective: To understand the relationships that promote and threaten family hope during pregnancy and in the care of high-risk newborns.
Method: Qualitative research, guided by the theoretical framework of Understanding the Complex Nature of Hope, carried out between December 2021 and March 2022, with 28 members of 14 families attended at a multidisciplinary outpatient clinic for at-risk newborns in Minas Gerais, Brazil. Data obtained from interviews in thematic oral history allowed the construction of narratives, genograms and ecomaps, which were subjected to deductive thematic analysis procedures.
J Bone Joint Surg Am
November 2024
Department of Orthopaedic Surgery, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Background: Fractures of the thoracic and lumbar spine are increasingly common. Although it is known that such fractures may elevate the risk of near-term morbidity, the natural history of patients who sustain such injuries remains poorly described. We sought to characterize the natural history of patients treated for thoracolumbar fractures and to understand clinical and sociodemographic factors associated with survival.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital, Delaware, 1600 Rockland Road, Wilmington, DE, 19803, USA.
Achondroplasia is the most common disproportionate short-stature skeletal dysplasia. Features associated with achondroplasia are rhizomelia, macrocephaly, midface hypoplasia, and typical cognition. Potential medical complications include foramen magnum stenosis, hydrocephalus, middle ear dysfunction, obstructive and central sleep apnea, spinal stenosis and genu varum.
View Article and Find Full Text PDFJ Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.
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