Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.

Von Hippel-Lindau disease (VHL) is a heritable condition caused by pathogenic variants in VHL and is characterized by benign and malignant lesions in the central nervous system (CNS) and abdominal viscera. Due to its variable expressivity, existing efforts to collate VHL patient data do not adequately capture all VHL manifestations. We developed a comprehensive and standardized VHL database in the web-based application, REDCap, that thoroughly captures all VHL manifestation data. As an initial trial, information from 86 VHL patients from the University Health Network/Hospital for Sick Children was populated into the database. Analysis of this cohort showed missense variants occurring with the greatest frequency, with all variants localizing to the α- or ß-domains of VHL. The most prevalent manifestations were central nervous system (CNS), renal, and retinal neoplasms, which were associated with frameshift variants and large deletions. We observed greater age-related penetrance for CNS hemangioblastomas with truncating variants compared to missense, while the reverse was true for pheochromocytomas. We demonstrate the utility of a comprehensive VHL database, which supports the standardized collection of clinical and genetic data specific to this patient population. Importantly, we expect that its web-based design will facilitate broader international collaboration and lead to a better understanding of VHL.

Lessons learned from a peer-supported diabetes education program in two dissimilar Mayan communities.

Background: A steady rise in type 2 diabetes (T2D) in Mexico over the last 30 years has led to 11.5 million Mexicans being affected by this condition. There is an urgent need to develop interventions to prevent complications of T2D. Diabetes self-management education is the cornerstone of promoting self-care. Among all educational strategies, peer support has shown to be an effective method to encourage ongoing self-management. However, customization of interventions for distinct communities is imperative, as failure to do so can hinder the intervention's effectiveness. Methods: We implemented a two-year prospective randomized controlled community-based trial in Conkal, a Mayan community from Yucatan, Mexico. The intervention consisted of receiving either a culturally sensitive peer support on top of a diabetes self-management education group (PLG); or a diabetes self-management education group only (EOG; control group). The primary outcome was changes in glycated hemoglobin, while secondary outcomes encompassed changes in systolic and diastolic blood pressure, body mass index, and diabetes self-care practices. Data collection was performed at baseline and every four months during the study period. Discussion: Our experiences have highlighted the significance of peer-leader support in cultivating diabetes self-care skills, particularly within smaller, underserved communities characterized by strong social and cultural ties. However, when applied in larger or suburban settings, selecting peer leaders should be meticulous, considering sectorization within specific neighborhoods to foster a sense of belonging and familiarity among natural community clusters. In larger settlemnts, factors such as transportation challenges, time limitations, caregiving obligations, limited venue access, and changes in session locations can drive program discontinuation. Additionally, individuals with lower educational attainment are more susceptible to abandonment. Notably, those with lower education, uncontrolled diabetes, and extended diabetes duration exhibit a greater potential for improving glycemic control than their counterparts. Clinical registration: https://www.isrctn.com/ISRCTN96897082.

Peer Support Added to Diabetes Education Improves Metabolic Control and Quality of Life in Mayan Adults Living With Type 2 Diabetes: A Randomized Controlled Trial.

BACKGROUND: Yucatán, located in the southern region of Mexico, is the state with the country's highest prevalence of uncontrolled diabetes. Because of its particular cultural and socioeconomic characteristics, the residents of Yucatán face unique health-care challenges. The objective of our study was to evaluate the effect of peer support added to a diabetes education program on glycemic control and diabetes-related quality of life when compared with a conventional diabetes education program in patients with type 2 diabetes in a Mayan community in Mexico. METHODS: In March 2015, a total of 58 participants with a previous diagnosis of type 2 diabetes who were recruited from community health centres in Komchén were randomly assigned in equal numbers to 1 of 2 groups: 1) a peer support and diabetes self-management education group (PSEG) or 2) a conventional diabetes self-management education-only group. The primary outcomes of interest were glycated hemoglobin (A1C) values and diabetes-related quality of life. The majority of subjects were bilingual (Mayan and Spanish speakers), female and middle aged, and had a low level of formal education and high baseline A1C (mean, 8.7%). RESULTS: Whereas both groups showed significant improvements from baseline to study end in absolute levels of A1C, the PSEG group had a more pronounced clinical improvement, but no statistical improvement, in A1C compared with the conventional diabetes self-management education-only group. PSEG participants exhibited statistically significant improvement in diabetes-related quality of life at 8 months. CONCLUSIONS: Our study demonstrates the benefits of peer-support education above and beyond the impact of diabetes self-management education on diabetes-related quality of life in an underserved Mayan community in Mexico.