Global Health, Epidemiology and Genomics

This study utilized integrative bioinformatics’ tools together with phenotypic assays to understand the whole-genome features of a carbapenem-resistant international clone II Acinetobacter baumannii AB073. Overall, we found the isolate to be resistant to seven antibiotic classes, penicillins, β-lactam/β-lactamase inhibitor combinations, cephalosporins, carbapenems, aminoglycosides, fluoroquinolones, and folate pathway antagonists. These resistance phenotypes are related to various chromosomal-located antibiotic resistance determinants involved in different mechanisms such as reduced permeability, antibiotic target protection, antibiotic target alteration, antibiotic inactivation, and antibiotic efflux. IC2 A. baumannii AB073 could not transfer antibiotic resistance by conjugation experiments. Likewise, mobilome analysis found that AB073 did not carry genetic determinants involving horizontal gene transfer. Moreover, this isolate also carried multiple genes associated with the ability of iron uptake, biofilm formation, immune invasion, virulence regulations, and serum resistance. In addition, the genomic epidemiological study showed that AB073-like strains were successful pathogens widespread in various geographic locations and clinical sources. In conclusion, the comprehensive analysis demonstrated that AB073 contained multiple genomic determinants which were important characteristics to classify this isolate as a successful international clone II obtained from Thailand.

Background. Congenital malformations (CMs) are a group of structural or functional anomalies present at birth. These anomalies result in a high rate of mortality, morbidity, and disability in children. CMs are a major public health problem and place a heavy burden on healthcare systems in both developed and developing countries including Morocco, which has had a CMs surveillance system in place since 2011. The aim of this study is to determine the prevalence of CMs in Morocco. Methods. In this study, the epidemiology of CMs in Morocco was assessed retrospectively using the national surveillance system data gathered from case notification forms from 2017 to 2021. Results. The main results showed that the prevalence of CMs in Morocco is 3.91/1000 live births (LBs), and the minimum annual prevalence of CMs was reached in 2017 (3.10/1000 LBs) while the maximum annual prevalence was recorded in 2018 (4.55/1000 LBs). The majority of CMs are unspecified CMs (68.55%), neural tube defects (NTDs) account for (21.13%), and orofacial clefts (OFCs) account for (10.32%). In addition, the majority of CMs (61.73%) were from rural areas. According to region, the Dakhla-Oued Eddahab region recorded the highest prevalence of CMs in Morocco, with 8.81/1000 LBs, while the lowest prevalence was recorded in the Rabat-Sale-Kenitra region, with 2.02/1000 LB. Conclusions. This study reveals that the national prevalence of CMs is high and may be underestimated, as most of the CMS reported is unspecified. The use of a CM registry with detailed reporting of all CMs and the promotion of preventive measures are urgently recommended.

Fabry disease (FD) is a multisystem lysosomal storage disorder induced by genetic variants in the alpha-galactosidase A (αGalA) gene. Some FD patients have GLA variants with a reduction in overall αGalA enzymatic activity due to mutated proteins with reduced stability, caused by protein misfolding and premature degradation, but the αGalA catalytic activity remains conserved (“amenable” genetic variants). To correct this misfolding and to prevent premature degradation, migalastat, a small iminosugar molecule was developed. We report the clinical characteristics of FD “amenable” cohort patients from Argentina, prior to starting treatment with migalastat. Seventeen Fabry adult patients were recruited from 13 Argentinian Centers; 8 males (47.1%) and 9 females (52.9%) were included. All genotypes included were missense-type “amenables” mutations. Some classic FD typical early manifestations were more frequent in patients with “classic” versus “late-onset” FD phenotype (pain, ; cornea verticillata, ). There was a statistically significant difference in estimated glomerular filtration rate in the “classic” versus “late-onset” phenotype () but no difference between genders (). Left ventricular mass was similar between genders () and phenotypes (). Cardiovascular risk factors were present among “late-onset” females (obesity 50% and smoke 25%). In patients who started “de novo” migalastat, the main indications were (i) heart disease, (ii) kidney damage, and (iii) pain, while in “switched from prior enzyme replacement therapy” patients, the most frequent indication was “patient decision;” this coincides with publications by other authors.

Little is known about the dietary knowledge (DK) and eating habits (EHs) of patients with type 2 diabetes (T2D) in Lebanon. Therefore, the aim of this study was to assess the DK and EH of the population with T2D and determine their associated factors. A cross-sectional survey enrolling 351 patients with T2D was carried out, using the snowball sampling technique. The survey used the UK Diabetes and Diet Questionnaire and the Dietary Knowledge questionnaire to assess participants’ EH including the frequency of consumption of certain foods and their knowledge of food groups and food choices. While a higher DK index indicated better knowledge, a higher EH index indicated less healthy EH. Independent sample T-test and Mann–Whitney test were used for dichotomous variables, and ANOVA and Kruskal–Wallis tests were used for polytomous variables. Correlation analysis tested the association between two continuous variables. Two multiple linear regression models were used to identify factors associated with DK and EH. Overall, 67% of participants had good or adequate DK, and around 25% and 75% of them had healthy and less healthy EH, respectively. Better knowledge was significantly related to occupation, BMI, presence of comorbidities, and HbA1c testing during the last 3 months. Higher family income, physical activity, family history of diabetes, receiving help in medication administration from family or friends, and higher DK level were factors associated with healthier EH. Nutrition education and awareness campaigns aimed at patients and their families are needed to empower patients with adequate DK and skills to facilitate the adoption of healthy EH.

Background. Overweight and obesity are major risk factors for chronic diseases and are the leading cause of mortality worldwide. Obesity during adolescence is strongly associated with adulthood obesity leading to increased morbidities and mortality. As a developing country undergoing rapid urbanization, Nepal is in a transitional phase where undernutrition coexists with obesity; however, there is a dearth of literature on the status of adolescent obesity in the rural section of Nepal. The aim of this study was to determine the prevalence of adolescent obesity in a rural district of Nepal and find out its associated factors. Methods. An institution-based cross-sectional study was conducted among the adolescent students studying in classes 8, 9, and 10 in four secondary schools of Gosaikunda rural municipality of Rasuwa district, Nepal. Total enumerative sampling was used, and Global School-based Health Survey (GSHS) standard questionnaires were used in collecting the information. Height and weight measurements were taken, and the body mass index was classified according to Asia-Pacific criteria. The collected data were analyzed using “SPSS” version 22. Logistic regression analysis was used to evaluate the associated factors, and a value of ≤0.05 was considered statistically significant. Results. Out of 267 adolescents, 14.6% were obese and 14.6% were overweight. Of the female participants, 39.6% were either obese or overweight, while 12.6% of the male adolescents were overweight/obese. Among the total participants, 16.5% were underweight, including 14.0% females and 20.4% males. Female adolescents were about five times (AOR: 5.2, 95% CI (2.5–10.9),  < 0.01) more likely of being overweight/obese than male adolescents. Conclusions. More than one-quarter of the adolescents were found to be obese/overweight, and the prevalence was significantly more among female adolescents. It emphasizes the necessity of school-based programs promoting a healthy lifestyle among students to maintain healthy weight status.

Modern biomedical research is characterised by its high-throughput and interdisciplinary nature. Multiproject and consortium-based collaborations requiring meaningful analysis of multiple heterogeneous phenotypic datasets have become the norm; however, such analysis remains a challenge in many regions across the world. An increasing number of data harmonisation efforts are being undertaken by multistudy collaborations through either prospective standardised phenotype data collection or retrospective phenotype harmonisation. In this regard, the Phenotype Harmonisation Working Group (PHWG) of the Human Heredity and Health in Africa (H3Africa) consortium aimed to facilitate phenotype standardisation by both promoting the use of existing data collection standards (hosted by PhenX), adapting existing data collection standards for appropriate use in low- and middle-income regions such as Africa, and developing novel data collection standards where relevant gaps were identified. Ultimately, the PHWG produced 11 data collection kits, consisting of 82 protocols, 38 of which were existing protocols, 17 were adapted, and 27 were novel protocols. The data collection kits will facilitate phenotype standardisation and harmonisation not only in Africa but also across the larger research community. In addition, the PHWG aims to feed back adapted and novel protocols to existing reference platforms such as PhenX.