Scoping review of the recommendations and guidance for improving the quality of rare disease registries.

BACKGROUND: Rare disease registries (RDRs) are valuable tools for improving clinical care and advancing research. However, they often vary qualitatively, structurally, and operationally in ways that can determine their potential utility as a source of evidence to support decision-making regarding the approval and funding of new treatments for rare diseases. OBJECTIVES: The goal of this research project was to review the literature on rare disease registries and identify best practices to improve the quality of RDRs. METHODS: In this scoping review, we searched MEDLINE and EMBASE as well as the websites of regulatory bodies and health technology assessment agencies from 2010 to April 2023 for literature offering guidance or recommendations to ensure, improve, or maintain quality RDRs. RESULTS: The search yielded 1,175 unique references, of which 64 met the inclusion criteria. The characteristics of RDRs deemed to be relevant to their quality align with three main domains and several sub-domains considered to be best practices for quality RDRs: (1) governance (registry purpose and description; governance structure; stakeholder engagement; sustainability; ethics/legal/privacy; data governance; documentation; and training and support); (2) data (standardized disease classification; common data elements; data dictionary; data collection; data quality and assurance; and data analysis and reporting); and (3) information technology (IT) infrastructure (physical and virtual infrastructure; and software infrastructure guided by FAIR principles (Findability; Accessibility; Interoperability; and Reusability). CONCLUSIONS: Although RDRs face numerous challenges due to their small and dispersed populations, RDRs can generate quality data to support healthcare decision-making through the use of standards and principles on strong governance, quality data practices, and IT infrastructure.

Prevalence of diabetes mellitus and associated risk factors in Nepal: findings from a nationwide population-based survey.

OBJECTIVES: The burden of diabetes mellitus (DM) has increased globally, particularly in low-income and middle-income countries, including Nepal. Population-based nationally representative data on the prevalence of DM is limited. This paper presents the prevalence of DM and its associated risk factors in Nepal. RESEARCH DESIGNS AND METHODS: This population-based study sampled 13 200 participants aged 20 years and above in 400 clusters of 72 districts of Nepal. The study used a standardised questionnaire adapted from the WHO STEPwise approach to non-communicable disease risk factor surveillance instrument and digitalised in Android-compatible mobile phones. Fasting and 2 hours postprandial blood samples were taken to test various biochemical parameters. Descriptive followed by multivariate analyses were done to assess the association between explanatory variables and the outcome variable. PRIMARY OUTCOME MEASURES: Prevalence of DM. RESULTS: The prevalence of DM was found to be 8.5% (95% CI 7.8% to 9.3%). The odds of DM occurrence were higher in the upper age groups (40-59 years at adjusted OR (AOR) 3.1 (95% CI2.3 to 4.2) and 60+ years at AOR 4.7 (95% CI 3.3 to 6.6)), compared with the group aged 20-39 years. Men were found to have higher odds of DM (AOR 1.3, 95% CI 1.1 to 1.6) compared with women. Urban residents had almost twice higher odds of DM (AOR 1.7, 95% CI 1.4 to 2.2) compared with rural residents. Participants with raised blood pressure (BP) (AOR 2.2, 95% CI 1.8 to 2.7), those who were overweight and obese (AOR 2.0, 95% CI 1.6 to 2.4) and those who had high triglycride level (≥150 mg/dL) (AOR 2.1, 95% CI 1.8 to 2.6) also had twice higher odds of DM compared with those with normal BP, an average body mass index and normal triglyceride level, respectively. CONCLUSIONS: Targeted interventions to higher risk groups as well as prevention and control of other associated biological risk factors might help to reduce the prevalence of DM in Nepal.

A National Equity Initiative to Address Noncommunicable Diseases and Injuries: Findings and Recommendation from the Nepal NCDI Poverty Commission.

We aimed to assess the burden of NCDIs across socioeconomic groups, their economic impact, existing health service readiness and availability, current policy frameworks and national investment, and planned programmatic initiatives in Nepal through a comprehensive literature review. Secondary data from Global Burden of Disease estimates from GBD 2015 and National Living Standard Survey 2011 were used to estimate the burden of NCDI and present the relationship of NCDI burden with socioeconomic status. The Commission used these data to define priority NCDI conditions and recommend potential cost-effective, poverty-averting, and equity-promoting health system interventions. NCDIs disproportionately affect the health and well-being of poorer populations in Nepal and cause significant impoverishment. The Commission found a high diversity of NCDIs in Nepal, with approximately 60% of the morbidity and mortality caused by NCDIs without primary quantified behavioral or metabolic risk factors, and nearly half of all NCDI-related DALYs occurring in Nepalese younger than 40 years. The Commission prioritized an expanded set of twenty-five NCDI conditions and recommended introduction or scale-up of twenty-three evidence-based health sector interventions. Implementation of these interventions would avert an estimated 9680 premature deaths per annum by 2030 and would cost approximately $8.76 per capita. The Commission modelled potential financing mechanisms, including increased excise taxation on tobacco, alcohol, and sugar-sweetened beverages, which would provide significant revenue for NCDI-related expenditures. Overall, the Commission's conclusions are expected to be a valuable contribution to equitable NCDI planning in Nepal and similar resource-constrained settings globally.

Patterns of substance use among adolescents: A systematic review.

PURPOSE: This review characterizes empirically derived patterns of multiple (multi-) substance use among adolescents. A secondary objective was to examine the extent to which mental health symptomatology was included in the empirical analyses examining substance use patterns. METHODS: Eligible studies included those that used cluster-based approaches, included the assessment of at least two different substances, and were based on study samples with mean ages between 11 and 18 years. 4665 records were screened including 461 studies for full-text screening. RESULTS: 70 studies were included with common clusters being: low use, single or dual substance use, moderate general multi-use, and high multi-use. The most common patterns of single or multi-substance use were: alcohol only, alcohol with cannabis and/or tobacco, and use of alcohol, tobacco, and cannabis with and without other drugs. Lower socioeconomic status, older age, and male gender were consistent predictors of multi-use clusters. Only 37 % of studies compared differences in levels of mental health across clusters with symptoms consistently associated with a greater likelihood of multi-use. Only 29 % of studies included mental health indicators in cluster-based analyses, with over half identifying distinct mental health and substance use clusters. Fit indices in cluster analyses and measurement properties of substance use were heterogeneous and inconsistently reported across studies. CONCLUSIONS: Distinct patterns of substance use were derived but methodological differences prevented direct comparison and reduced capacity to generalize across studies. There is a need to establish standardized methodological approaches to identify robust patterns of substance use to enhance etiological, prognostic, and intervention research.

Prevalence and Predictors of Alcohol Consumption among the Squatter of Kathmandu Valley.

BACKGROUND: Alcohol consumption has grown up sharply over the past decades in Nepal. Conversely, little is known about this phenomenon among the urban poor. We assessed pattern, frequency, context, and type of alcohol consumption among the urban poor of Nepal. METHODS: We executed a cross-sectional study, taking 422 households from four squatter settlements of Kathmandu Valley. Modified Nepalese version standard questionnaire was used for data collection. Data was objectively analyzed in SPSS full version 19. RESULTS: The study reported 39.81% (95% CI: 32.41-47.21) current drinkers, with male (65.99%, 95% CI: 57.85-74.13) outnumbering female (16.89%, 95% CI: 4.98-28.80). One out of ten drinkers drank daily (male: 13.08%, female: 13.16%). A third (30.36%) of all current drinkers acknowledged drinking more than one type of alcohol (male: 28.46%, female: 36.84%). Nearly half (47.60%) of the drinkers drank in social gathering (male: 47.90%, female: 47.60%). Home was the place of drinking for nearly one-fifth (18.60%) of the drinkers. Males most commonly drank alcohol with their friends (34.60%), whereas female drank with family members (25.60%). Nearly half of the drinkers drank during evening hour (45.24%). Multivariable analysis detected likelihood of drinking 5.86 times (95% CI: 2.50-13.72) in male and 3.16 times (95% CI: 1.39-7.13) in those with family history of alcohol. CONCLUSIONS: We found high prevalence of alcohol consumption than the national average among the urban poor with a marked gender difference by pattern. Gender sensitive alcohol prevention and control programs need a greater start.

Alcohol Consumption during Pregnancy and Postpartum Period and its Predictors in Sindhupalchowk District, Nepal.

BACKGROUND: A substantial proportion of women in Nepal consume alcohol and homebrewed alcoholic beverages are the most common type of alcohol. Alcohol being a part of tradition and culture in Nepal and evidences suggesting even low to moderate dose of alcohol having impacts on the birth outcomes, we aimed at exploring the alcohol consumption pattern during pregnancy and postpartum period along with its predictors. METHODS: We studied all pregnant and recently delivered women using quantitative methods in selected wards within selected Village Development Committees of Sindhupalchowk district in Nepal after purposively choosing the district. We present the findings on pregnancy and postpartum period drinking and its predictors as proportion and adjusted odds ratio along with 95% CI. RESULTS: One-third of women drank alcohol during pregnancy and 43% during postpartum period. Nearly all drinking women mostly consumed homebrewed alcoholic beverages such as jaad/chhyang/localraksi. One-third consumed it daily during pregnancy, while three-quarters consumed daily during postpartum. One-fifth of currently drinking women drank ≥5 standard drinks on average per day in the last 30 days. Illiterate or women with low level of education were three times more likely to consume alcohol during pregnancy than women with secondary level education or higher. Similarly, women who didn't know that alcohol during pregnancy affects mother and child were four and half times more likely to consume alcohol during pregnancy than those who knew about it. Also, being dalits, disadvantaged and janajatis, husband's drinking and home brewing of alcohol were strongly associated with women's drinking during pregnancy and postpartum period. CONCLUSIONS: A substantial proportion of women consumed alcohol during pregnancy and postpartum period with high consumption frequency. Findings suggested, increasing awareness about consequences of drinking during pregnancy and postpartum period would be helpful probably as one of the components of routine antenatal care with a special focus to ethnic groups such as dalits, disadvantaged janajatis including relatively advantaged janajatis as well as the women with lower levels of education. Culture sensitive behavior change communication interventions aimed at reducing home brewing and husband's drinking would also be important Keywords: Alcohol consumption; home brewed; Nepal; postpartum period; pregnancy; predictor.

Utilization of Health Research Recommendation in Policy and Planning in Nepal.

BACKGROUND: Over the past decade in Nepal, a large number of studies have been carried in a variety of health areas; however whether evidence derived from these studies has been used to inform health policy has not been explored. This study aims to assess the utilization of recommendations from health research in health policy and plans, and to identify the factors that influence utilization of research findings by policy makers' in Nepal. METHODS: Qualitative study incorporating literature review and semi-structured interviews was used. Research reports and health related policies were collected from governmental and non-governmental bodies. Documents were reviewed to identify the utilization of research-based recommendations in health policy and plan formulation. In-depth interviews were conducted with key policy makers and researchers to identify factors that hinder the utilization of research recommendations. RESULTS: A total of 83 health related research reports were identified, of which 48 had recommendations. Four policies and three plans, from total 21 identified plans and policies, were found to have incorporated recommendations from research. Of the 48 studies that had recommendations, 35 were found to be used in the policy making process. Lack of appropriate communication mechanisms, and concerns related to the quality of research conducted, were the main factors hindering the translation of evidence into policy. CONCLUSIONS: Communication gaps exist between researchers and policy makers, which seem to have impeded the utilization of research-based information and recommendations in decision-making process. Establishing a unit responsible for synthesizing evidences and producing actionable messages for policy makers can improve utilization of research findings.

Two cases of small bowel obstruction secondary to a swallowed potato.

Bowel obstruction due to bezoars (compaction of ingested material within the gastrointestinal tract) is a rare, but well documented occurrence. In this paper, we present two cases of potato-induced small bowel obstruction. Both patients were approximately 50 years old and had cerebral palsy and learning disabilities, respectively. They presented with abdominal pain and bilious vomiting, with no medical or surgical history. Diagnosis of small bowel obstruction was confirmed by CT prior to taking the patients to the operating theatre, where whole potatoes were found to be obstructing each patient's bowel lumen. Both patients underwent laparotomy with enterotomy and removal of the potato. They both made a good recovery. Through a literature review of bezoar-induced bowel obstruction, these cases highlight important diagnostic and management principles.

Alcohol Use by Nepalese Women: Evidence from Non Communicable Disease Risk Factors STEPS Survey Nepal 2013.

BACKGROUND: Over the centuries, the world has witnessed alcohol use as a common phenomenon among the male population. Owing to the vulnerability of women towards alcohol and its possible consequences on women as well as children when pregnant or lactating mothers drink alcohol, there is utmost need to know the alcohol use among this population. The study sought to assess alcohol use among the Nepalese women aged 15-69 years. METHODS: It was a sub-set analysis of 2807 women aged 15-69 years, extracted from a data of national cross-sectional study, NCD Risk Factors: STEPS Survey Nepal 2013 carried out among 4200 adults in 2013 using a multistage cluster sampling. Data collected in personal digital assistants using WHO NCD STEPS instrument version 2.2 were transferred to Microsoft Excel, cleaned in SPSS 16.0, and analyzed in STATA 13.0. RESULTS: We reported 11.7% (95% CI: 9.5-14.3) ever users of alcohol, 9.4% (95% CI: 7.4-11.7) last 12 months alcohol users, 7.1% (95% CI: 5.2-9.0) current drinkers, and 0.9% (95% CI: 0.5-1.6) with harmful use of alcohol. As compared to 15-29 years women, 30-44 and 45-69 years women were 1.61 (95% CI: 1.02-2.55) and 1.58 (95% CI: 1.03-2.43) times more likely to be drinkers in the last 12 months, respectively. Likewise, 45-69 years women were 2.84 (95% CI: 1.05-7.63) times more likely to indulge into harmful use of alcohol than their younger counterparts (15-29 years). Women from the Terai belt had lower odds of any drinking pattern than the women from hills: ever use (0.43, 95% CI: 0.27-0.70), alcohol use in the last 12 months (0.44, 95% CI: 0.26-0.75), current drinking (0.38, 95% CI: 0.22-0.65), and harmful use of alcohol (0.11, 95% CI: 0.03-0.37). Primary education holders were found to have 0.64 times (95% CI: 0.43-0.95) chances of current drinking than those without formal education. CONCLUSIONS: Women from upper age groups, hills, and with no formal education were found likely to be consuming alcohol. Contextual and culture friendly anti alcohol behaviour change communication interventions on community settings of hills and mountains, promoting active participation of relatively older women (45-69 years) and illiterate women are of great importance.

Socio-demographic Predictors of Tobacco Use among Women of Nepal: Evidence from Non Communicable Disease Risk Factors STEPS Survey Nepal 2013.

BACKGROUND: Globally, tobacco use is most common public health problem. Similar is the situation of Nepal where thousands of lives are lost annually. Both sexes are affected by tobacco use but women share different and unique problems. Hence, in this paper we made an attempt to understand socio-demographic predictors of tobacco use among women of Nepal. METHODS: A cross-sectional study was carried out with a sample of 2797 women (15-69 years) recruited through multistage cluster sampling technique. This study used sub-set of data of non-Communicable diseases risk factors survey 2013 of Nepal. Bivariate and multivariable regression analyses were carried out to determine predictors of tobacco use among women of Nepal. RESULTS: Among total women, 14% were having at least one form and pattern of tobacco use. Furthermore, 10 % were smoker and 4 percent were using any form of chewing tobacco user. As compared to 15-29 years women, 45-69 years age group were 5 times (OR=4.7, 95% CI =2.7-8.0) more likely to be tobacco user. Similarly, urban women were 40% (OR=0.6, 95% CI=0.38-0.95) less vulnerable than rural women. In addition, higher educated women were found to be at 1% (OR=0.01, 95% CI=0.01-0.01) less risk of being tobacco user. CONCLUSIONS: Age, area of residence, and education level were found to be significant socio-demographic predictors for tobacco use among women in Nepal. Therefore, tobacco control programme should target these groups for interventions.

Prevalence and Determinants of Comorbid Diabetes and Hypertension in Nepal: Evidence from Non Communicable Disease Risk Factors STEPS Survey Nepal 2013.

BACKGROUND: Despite being preventable disease, diabetes and hypertension fall among top 10 leading causes of death globally. Diabetes and hypertension are independent risk factor for cardiovascular disease, and the risk is markedly increased by their co-occurrence.This study attempted to find out the prevalence of comorbid diabetes and hypertension in Nepal. METHODS: A cross-sectional survey was conducted among 4,200 Nepalese adults selected through multistage cluster sampling.Out of 4,200 respondents of larger study, this article includes the analysis of 3,772respondents who granted permission for physical and biochemical measurement. Nepali version of WHO NCD STEPS instrument version 2.2 was used for data collection. In order to obtain national estimates sample weight was used. Chi-square test and multivariable binary logistic regression were used to assess the association of socio-economic predictors with comorbid conditions after adjusting effect of clusters and strata. RESULTS: The overall prevalence of comorbid diabetes and hypertension was found to be 2% in Nepal.Considering age group 15 to 29 years as reference, people in age group 45-69 and 30 to 44 years were found to have 33 folds (AOR=33.06, 95%CI=5.90-185.35) and 6 folds(AOR=6.36, 95%CI=1.08-37.43) higher odds of developing comorbid condition of diabetes and hypertension. CONCLUSIONS: Prevalence of comorbid diabetes and hypertension seem to be high in people of 45-69 years of age. Age and level of education seem to be associated with comorbid diabetes and hypertension.

Oral Health Condition of School Children in Nawalparasi District, Nepal.

BACKGROUND: Oral diseases and feeding habits are inextricably linked. Significance of assessing oral health conditions among the school children therefore exists. The current study investigated the oral health condition among 5-6 years and 12-13 years children in Nawalparasi district, Nepal. METHODS: Recruiting 1,000 school children aged (5-6) and (12-13) years in Nawalparasi district, a cross-sectional study was carried out from November to December, 2014. Data assembled from standard instrument was entered in Epi-Data 3.1, cleaned in SPSS version 16.0, and analyzed in Epi Info 3.5.4. RESULTS: Of 12-13 years children, three out of ten (32.0%, 95% CI: 27.8-36.4) suffered from occasional dental discomfort and pain, and 8.1% (95% CI: 5.9-11.0) often experienced dental discomfort and pain during the last 12 months. It was 73.6% (95% CI: 69.3-77.4) who brushed teeth at least once a day, while another 20.7% (95% CI: 17.2-24.7) brushed twice a day. Among all children, 86.1% (95% CI: 82.6-89.1) used toothpaste to brush the teeth. A three-fourth (73.8%, 95% CI: 69.5-77.7) drank tea with sugar daily. Dental caries was visible on 42.2% (95% CI: 37.7-46.8) (mean DMFT score 2.3 ± 1.5). Likewise, a quarter (24.1%, 95% CI: 20.3-28.3) had gingival bleeding, 10.9% (95% CI: 8.3-14.1) questionable enamel fluorosis, 4.5% (95% CI: 2.9-6.9) dental trauma, and 1.7% (95% CI: 0.8-3.5) oral mucosal lesion. Referral for preventive/routine treatment was observed in 40.5% (95% CI: 36.145.1). Among 5-6 years old children, a remarkable proportion of dental caries (64.4%, 95% CI: 59.2-69.4 and mean DMFT score 4.4 ± 3.0) was noted. Statistics of enamel fluorosis, dental trauma, and oral mucosal lesions in this age group were: 3.1% (95% CI: 1.6-5.6), 1.7% (95% CI: 0.7-3.8), and 1.1% (95% CI: 0.4-3.0) respectively. About 40.1% (95% CI: 35.0-45.4) were referred for preventive treatment, and the rest for prompt treatment. CONCLUSIONS: Oral health of the children was poor, chiefly dental carries remained widespread. Dental hygiene awareness should be promoted in schools in active coordination and collaboration with education authorities.

Social Consequences of Alcohol Use among Urban Poor: A Cross-sectional Study in Kathmandu Valley.

BACKGROUND: Nepal is not an exception to alcohol use; urban poor are more prone than the general population. The question of social consequences of alcohol use among urban poor remains largely unanswered in Nepal. Study explored the alcohol linked social consequences among the urban poor of Kathmandu Valley. METHODS: Taking 422 urban poor from four squatter settlements of Kathmandu Valley, a cross-sectional study was carried out. A series of univariate and bivariate analysis were performed in R version 3.1.2. RESULTS: Four out of 10 current drinkers (42.86%, 95% CI: 31.4-54.3) encountered various social consequences. The number one consequence hitting 23.19% drinkers was money loss. Male drinkers were 4.43 times (95% CI: 1.810.8) more likely to face social consequences than their female counterparts. Being male frequent drinker increased the odds of social consequence 3.80 times (95% CI:1.3-11.0) than that of female frequent drinker. CONCLUSIONS: A behaviour change communication campaign needs initiation; male populace and frequent drinkers being the target.

Nepalese Homebrewed Alcoholic Beverages: Types, Ingredients, and Ethanol Concentration from a Nation Wide Survey.

BACKGROUND: Despite the enormous public health problems related to traditional alcohol consumption practice in Nepal, this area has been ignored and the information at the national level is limited. Thus this study is designed to explore the readily available commonly practiced Nepalese homebrewed alcoholic beverages, the ingredients used and alcohol strength (ethanol concentration). METHODS: This study was carried out as a part of ongoing household survey on "Alcohol consumption practice among married women of reproductive age in Nepal". A total of 284 homebrewed alcoholic beverage (distilled 175, non-distilled:109) samples were collected from the 16 survey districts of Nepal during the period of April to August, 2013. Ethanol percentage was tested in research lab by using standard procedure. RESULTS: Readily available homebrewed alcoholic beverages in practice were mainly of two types "Distilled" (local Raksi) and "Non-distilled" (Jand, Chhyang, Tumba). Rice, wheat, barley, millet, maize, fruits, and pure sugar were the commonly used ingredients to prepare alcohol. Ethanol concentration in homebrewed alcohol was 14.0% (IQR: 10.0-19.0) ranging from 3% to 40% for distilled, and 5.2% (IQR: 3.5-9.8) ranging from 1% to 18.9% for nondistilled. A significant difference (P<0.05) was found in alcohol strength by residence, development regions, types of alcohol, and the ingredients used. CONCLUSIONS: The median concentration of ethanol in readily available home brewed alcoholic beverages in Nepal was more than the strength of factory produced beer. The alcohol strength varies across their types, ingredients used, residence and regions.

Menopausal Health Status of Women of Kapilvastu District of Nepal.

BACKGROUND: Women face numerous health problems in their post-reproductive and menopausal years, including issues such as pelvic pain, incontinence and obstetric fistula. In Nepal, the importance of these health issues is increasing with the aging of the population, yet women are often unable to access adequate health care due to entrenched gender structures and misconceptions regarding menopause. This study aimed to describe the prevalence of menopause, the associated health problems and their severity amongst women aged 40-60 years in Kapilvastu. METHODS: A descriptive study was conducted in Kapilvastu district. Multi stage cluster sampling technique was adopted: Illakas of Kapilvastu were identified, then one Village Development Committee (VDC) from each Illaka of the district, and two wards from each of these VDCs, were selected randomly. RESULTS: The median age of onset of menopause was 47 years (25 th and 75 percentiles = 43 and 50 years), and >90% of women had entered menopause by 54. All symptoms in the Menopause Rating Scale were experienced to some extent by at least 30% of women, even amongst the premenopausal group. The most common problems experienced by menopausal women were: sexual problems (81.7%, 95%CI: 78.0-85.4), physical and mental exhaustion (81.5%, 95%CI: 77.8-85.2) and joint and muscular discomfort (78.5%, 95%CI: 74.6-82.4). The symptoms most frequently deemed "severe" or "very severe" were: sexual problems (40.5%), joint and muscular discomfort (27.4%), and sleep problems (21.0%). th CONCLUSIONS: Middle-aged women in Kapilvastu experienced menopausal symptoms to a substantial degree. The prevalence and severity of these symptoms increased with the menopausal transition, and with increasing age. Menopause itself did not appear to be the primary risk factor for typical "menopausal" symptoms.