Successful mobile phone network-based approach to integration of the health care system in rural Laos: strengthening lay health worker performance.

INTRODUCTION: Little has been reported regarding how the effects of mobile phone-based improvements to healthcare worker communications may improve the activities of lay health workers, who form the crucial bridge between the official healthcare system and rural/remote communities. The objective of this study was to establish and assess the usefulness of a mobile phone-based communication network between village health volunteers (VHVs) and their supervisors in a rural district of Laos. METHODS: This study involved 154 villages out of a total of 158 villages located in Xepone district, Laos. Mobile phones with pre-paid cards were provided to 154 VHVs and 11 VHV supervisors; all were trained in the use of the phones and instructed to use the provided phone ad libitumfor work purposes. The supervisors recorded how or whether VHVs submitted their regular monthly vital event surveillance report and also took note of information pertaining to subject(s) discussed in the phone calls, whenever a call was made to or received from a VHV. RESULTS: In the 6-month period following mobile phone distribution, the group of supervisors received a total of 364 calls from VHVs. The most common purposes for the calls were the delivery of the monthly report; the second-most frequent purpose was the seeking of advice on case management, vitamin A distribution and delivery. The group of supervisors together made a total of 478 calls to VHVs during the 6-month period; the most frequent purpose was to request the monthly report and, second-most frequently, to inform in advance the scheduling of meetings, training, and outreach activities such as immunizations and health check-ups. Compared to the baseline, the number of villages with VHV submissions of monthly vital event surveillance reports significantly increased from 79 (51.3%) to 127 (82.5%) at 6 months after phone distribution. This increase was maintained at the 1-year time point (81.2%). CONCLUSION: The district-wide mobile phone communication network facilitated regular reporting, the seeking of advice, and the delivery of information regarding scheduling of various activities. The improved frequency and quality of communications has strong potential to translate into an improvement in health outcomes of people living in geographically remote and rural communities.

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.

Differences/disorders of sex development (DSDs) in individuals with a 46, XY karyotype are a group of congenital disorders that manifest as male gonadal hypoplasia or abnormalities of the external genitalia. Approximately 50% of patients with 46, XY DSDs cannot obtain a molecular diagnosis. The aims of this paper were to review the most common causative genes and rare genes in patients with 46, XY DSDs, analyze global molecular diagnostic cohorts for the prevalence and geographic distribution of causative genes, and identify the factors affecting cohort detection results. Although the spectrum of genetic variants varies across regions and the severity of the clinical phenotype varies across patients, next-generation sequencing (NGS), the most commonly used detection method, can still reveal genetic variants and aid in diagnosis. A comparison of the detection rates of various sequencing modalities revealed that whole-exome sequencing (WES) facilitates a greater rate of molecular diagnosis of the disease than panel sequencing. Whole-genome sequencing (WGS), third-generation sequencing, and algorithm advancements will contribute to the improvement of detection efficiency. The most commonly mutated genes associated with androgen synthesis and action are AR, SR5A2, and HSD17B3, and the most commonly mutated genes involved in gonadal formation are NR5A1 and MAP3K1. Detection results are affected by differences in enrollment criteria and sequencing technologies.