Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis

Background and ObjectivesTo perform the first screen of 44 amyotrophic lateral sclerosis (ALS) genes in a cohort of African genetic ancestry individuals with ALS using whole-genome sequencing (WGS) data.MethodsOne hundred three consecutive cases with probable/definite ALS (using the revised El Escorial criteria), and self-categorized as African genetic ancestry, underwent WGS using various Illumina platforms. As population controls, 238 samples from various African WGS data sets were included. Our analysis was restricted to 44 ALS genes, which were curated for rare sequence variants and classified according to the American College of Medical Genetics guidelines as likely benign, uncertain significance, likely pathogenic, or pathogenic variants.ResultsThirteen percent of 103 ALS cases harbored pathogenic variants; 5 different SOD1 variants (N87S, G94D, I114T, L145S, and L145F) in 5 individuals (5%, 1 familial case), pathogenic C9orf72 repeat expansions in 7 individuals (7%, 1 familial case) and a likely pathogenic ANXA11 (G38R) variant in 1 individual. Thirty individuals (29%) harbored ≥1 variant of uncertain significance; 10 of these variants had limited pathogenic evidence, although this was insufficient to permit confident classification as pathogenic.DiscussionOur findings show that known ALS genes can be expected to identify a genetic cause of disease in >11% of sporadic ALS cases of African genetic ancestry. Similar to European cohorts, the 2 most frequent genes harboring pathogenic variants in this population group are C9orf72 and SOD1.

Land use and cover change (LUCC) and migration in Sukoharjo, Indonesia

Purpose This study aims to provide descriptive analysis on urbanization pattern in Sukoharjo Regency and also its correlation to land use and cover change (LUCC) issue. This becomes more relevant because the authors find that there are few studies conducted regarding the topic. Consider again the importance role of Sukoharjo Regency as an area that provides supporting food supply, LUCC particularly in agriculture land became even more crucial. Design/methodology/approach This study uses literature reviews and descriptive analysis. Data for this study are obtained from previous studies and statistical data from Central Statistical Bureau. Findings Sukoharjo Regency proved as an interesting migration destination for some group of population. The population group particularly come from Surakarta city (growth core) as a form of urban sprawl or urban expansion. Migrant population live in Sukoharjo Regency are mostly a population group with a productive age range and generally with high-school or vocational school level. Moreover, their main reason to migrate is the availability of job opportunities. Regarding LUCC, migrant populations that come to Sukoharjo Regency apparently have property with ownership certification. Housing area development, particularly concentrated in the district, was located close to the borderline Surakarta city. Originality/value This research contributes to the analysis of land use change trends in peri-urban areas caused by migration. The results of this study can be used for further policy making to overcome the dilemma of land use change, especially those that occur on agricultural land.

Bias for Treatment Effect by Measurement Error in Pretest in ANCOVA Analysis

This paper investigated consequences of measurement error in the pretest on the estimate of the treatment effect in a pretest–posttest design with the analysis of covariance (ANCOVA) model, focusing on both the direction and magnitude of its bias. Some prior studies have examined the magnitude of the bias due to measurement error and suggested ways to correct it. However, none of them clarified how the direction of bias is affected by measurement error. This study analytically derived a formula for the asymptotic bias for the treatment effect. The derived formula is a function of the reliability of the pretest, the standardized population group mean difference for the pretest, and the correlation between pretest and posttest true scores. It revealed a concerning consequence of ignoring measurement errors in pretest scores: treatment effects could be overestimated or underestimated, and positive treatment effects can be estimated as negative effects in certain conditions. A simulation study was also conducted to verify the derived bias formula.

Vulnerability for food insecurity: Experiences of indigenous families in the Huasteca Potosina region, Mexico

Indigenous communities in Mexico are vulnerable to food insecurity (FI) due to a series of factors that prevent them from having access to sufficient and nutritious food. Therefore, this population group has the highest chronic malnutrition in the country. Objective: This study describes the FI conditions of an indigenous community in the Potosina Huastec. Methodology: FI was measured with the Household Food Insecurity Access Component Scale (HFIAS). Results: There is food insecurity ranging from concern about food lack, food reduction, and hunger. The 95.57% of households with children under 18 years were in some state of food insecurity, with severe food insecurity dominating. Limitations: Was a cross-sectional study carried out in a community of the Potosina Huastec. However, it is the municipality with the highest degree of marginalization in the area, but the community chosen is the largest in the municipality. Nonetheless, the results can be considered representative of the area. Conclusions: The food security community depends on climatic, socioeconomic, demographic, geographic, cultural factors, food preference conditions, among others. In addressing food insecurity, it is necessary to consider all factors to have a real diagnosis of food insecurity conditions in rural and indigenous communities.

Culture and Social Norms: Development and Application of a Model for Culturally Contextualized Communication Measurement (MC3M)

Studies of social norms are common in the communication literature and are increasingly focused on cultural dynamics: studying co-cultural groups within national boundaries or comparing countries. Based on the review of the status quo in cross-cultural measurement development and our years of experience in conducting this research among a co-cultural group, this paper describes a Model for Culturally Contextualized Communication Measurement (MC3M) for intercultural and/or cross-cultural communication research. As an exemplar, we report on a program of research applying the model to develop a culturally derived measurement of social norms and the factors impacting the norm-behavior relationship for members of a unique population group (i.e., ethnically Tibetan pastoralists in Western China). The results provide preliminary evidence for the construct validity and reliability of the culturally derived measurements. The implications, benefits, and shortcomings of the MC3M model are discussed. Recommendations for advancing both conceptual and measurement refinement in intercultural and cross-cultural communication research are provided.

Factors associated with the consumption of ultra-processed food by Brazilian adolescents: National Survey of School Health, 2015

ABSTRACT Objective: To identify the prevalence and factors associated with the consumption of ultra-processed foods by Brazilian adolescents. Methods: The sample was representative of adolescents and participants in the cross-sectional population-based study National Survey of School Health, 2015 edition (PeNSE-2015). A self-administered questionnaire was used for data collection. The variable weekly consumption of ultra-processed foods was considered, and consumption more than seven times a week was considered excessive. Descriptive and inferential analyses of demographic, socioeconomic, behavioral and environmental characteristics potentially associated with the outcome were performed. Poisson's multiple regression model was adjusted to control for confounding factors. Results: The prevalence of excessive consumption of ultra-processed foods among 16,324 adolescents in Brazil was 75.4%. Nine factors independently associated with this outcome were identified: age under 15 years (RR 1.08; p<0.001), daily sitting time greater than four hours (RR 1.13; p<0.001), eating while watching TV or studying more than four days a week (RR 1.09; p<0.001), daily TV time greater than three hours (RR 1.08; p<0.001), breakfast frequency less than four days a week (RR 1,03; p=0.001), having a cell phone (RR 1.12; p<0.001), absent maternal education (RR 0.88; p<0.001), being enrolled in a private school (RR 1.05; p=0.002) located in the urban area (RR 1.13; p=0.002). Conclusions: The results express the multifactorial characteristic of excessive consumption of ultra-processed foods and suggest the need for the development and implementation of health policies to guide the consumption of these foods and the importance of adopting healthy behaviors for this population group in both school and home environments.

THE FUNCTIONING OF HUMANITARIAN AID IN THE MALAGASY URBAN ENVIRONMENT TO ENSURE RESILIENCE TOWARDS SUSTAINABLE DEVELOPMENT

In Madagascar, faced with a galloping poverty rate, diseases, malnutrition, natural disasters, unemployment, illiteracy and illiteracy are hitting the population hard. In this context, social and economic aid aimed at an increasingly vulnerable population group is diversifying considerably. In general, humanitarians come to the aid of the most vulnerable to restore human dignity and alleviate the suffering of families in precarious situations. The question then becomes how will these humanitarian actions work to ensure resilience for socially sustainable development? This study, which aims to analyze the functioning of NGOs in the resolution of post-disaster socio-economic problems, allows us to affirm that taking into account the underlying factors: structural and situational, contributes to the achievement of the expected objectives for the strengthening of their resilience.

Young key populations left behind: The necessity for a targeted response in Mozambique

Introduction The first exposure to high-risk sexual and drug use behaviors often occurs during the period of youth (15–24 years old). These behaviors increase the risk of HIV infection, especially among young key populations (KP)–men how have sex with men (MSM), female sex workers (FSW), and people who inject drugs (PWID). We describe the characteristics of young KP participants in the first Biobehavioral Surveillance (BBS) surveys conducted in Mozambique and examine their risk behaviors compared to adult KP. Methods Respondent-driven sampling (RDS) methodology was used to recruit KP in three major urban areas in Mozambique. RDS-weighted pooled estimates were calculated to estimate the proportion of young KP residing in each survey city. Unweighted pooled estimates of risk behaviors were calculated for each key population group and chi-square analysis assessed differences in proportions between youth (aged less than 24 years old) and older adult KP for each population group. Results The majority of MSM and FSW participants were young 80.7% (95% CI: 71.5–89.9%) and 71.9% (95% CI: 71.9–79.5%), respectively, although not among PWID (18.2%, 95% CI: 13.2–23.2%). Young KP were single or never married, had a secondary education level or higher, and low employment rates. They reported lower perception of HIV risk (MSM: 72.3% vs 56.7%, p<0.001, FSW: 45.3% vs 24.4%, p<0.001), lower HIV testing uptake (MSM: 67.5% vs 72.3%, p<0.001; FSW: 63.2% vs 80.6%; p<0.001, PWID: 53.3% vs 31.2%; p = 0.001), greater underage sexual debut (MSM: 9.6% vs 4.8%, p<0.001; FSW: 35.2% vs 22.9%, p<0.001), and greater underage initiation of injection drug use (PWID: 31.9% vs 7.0%, p<0.001). Young KP also had lower HIV prevalence compared to older KP: MSM: 3.3% vs 27.0%, p<0.001; FSW: 17.2% vs 53.7%, p<0.001; and PWID: 6.0% vs 55.0%, p<0.001. There was no significant difference in condom use across the populations. Conclusion There is an immediate need for a targeted HIV response for young KP in Mozambique so that they are not left behind. Youth must be engaged in the design and implementation of interventions to ensure that low risk behaviors are sustained as they get older to prevent HIV infection.

Comparison of Short-Chain Fatty Acid (SCFA) and Interleukin-10 (IL-10) Levels in Patients with Systemic Lupus Erythematosus (SLE) Compared to Healthy Populations at RSUP Dr. Mohammad Hoesin Palembang

Background. Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease with various significant diseases, where SLE can affect the entire population in the world. This study aims to compare and analyze differences in the composition of the gut microbiota of SLE patients compared to healthy controls based on SCFA examination in Indonesia. Methods. The type of research conducted in this research is an analytical observational study with a case-control design. The research was conducted at Dr. RSUP. Mohammad Hoesin Palembang from October 2020 to October 2021. The sample in this study was divided into two groups, namely, the case group, and the control group. The case group was all SLE patients who met the inclusion criteria, while the control group was a healthy population who did a medical check-up at Dr. RSUP. Mohammad Hoesin Palembang. SCFA examination was carried out using Gas Chromatography-Mass Spectrometry (GCMS) from fecal samples. Results. The results showed that there were two groups of SCFA values, namely the normal group and the microbiota dysbiosis group where the SCFA value was low or less than 4. in the SLE and normal populations where there were 6 SLE subjects who had normal SCFA values or 37.5% and there were 10 SLE subjects who experienced microbiota dysbiosis. or 62.5%. In the healthy population group, all subjects had SCFA values that were included in the normal category, namely 16 subjects or 100%. Based on the severity of SLE using the SLEDAI MEX score, all SLE patients in the study were in the active or category flare where the SLEDAI MEX score was > 5. Conclusion. Patients with microbiota dysbiosis tended to have an LES of 7,222 or 7 times greater than patients who did not have microbiota dysbiosis or had normal SCFA values.