Obesity epidemic in urban Tanzania: a public health calamity in an already overwhelmed and fragmented health system.

BACKGROUND: Worldwide, the epidemiological and demographic transitions have resulted in nutrition shift characterized by an increased consumption of high energy fast food products. In just over 3 decades, overweight and obesity rates have nearly tripled to currently affecting over a third of the global population. Notwithstanding the ever present under-nutrition burden, sub Saharan Africa (SSA) is witnessing a drastic escalation of overweight and obesity. We aimed to explore the prevalence and associated factors for obesity among residents of Dar es Salaam city in Tanzania. METHODS: Participants from this study were recruited in a community screening conducted during the Dar es Salaam International Trade Fair. Sociodemographic and clinical data were gathered using a structured questionnaire during enrollment. Dietary habits and anthropometric measurements were assessed using standard methods. All statistical analyses utilized STATA v11.0 software. Pearson Chi square and Student's T-test were used to compare categorical and continuous variables respectively. Logistic regression analyses were used to assess for factors associated with BMI ≥ 25. All tests were 2-sided and p < 0.05 was used to denote a statistical significance. RESULTS: A total of 6691 participants were enrolled. The mean age was 43.1 years and males constituted 54.2% of all participants. Over two-thirds of participants were alcohol consumers and 6.9% had a positive smoking history. 88.3% of participants were physically inactive, 4.7% had a history of diabetes mellitus and 18.1% were known to have elevated blood pressure. Overweight and obesity were observed in 34.8 and 32.4% of participants respectively. Among overweight and obese participants, 32.8% had a misperception of having a healthy weight. Age ≥ 40, female gender, a current working status, habitual breakfast skipping, poor water intake, high soft drink consumption, regular fast food intake, low vegetable and fruit consumption, alcohol consumption and hypertension were found to be independent associated factors for obesity. CONCLUSION: Amidst the ever present undernutrition in SSA, a significant proportion of participants had excess body weight. Concomitantly, the rates of physical inactivity and unhealthy eating are disproportionately high in Dar es Salaam. In view of this, community-based and multilevel public health strategies to promote and maintain healthy eating and physical activity require an urgent step-up in urban Tanzania.

Exploring Muslims' Health-Related Behaviours in Portugal: Any Impact on Quotidian Community Pharmacy Practice?

Muslims are a growing community in European countries. General health habits, including therapy-related behaviours, have been described, though implications to pharmacy practice might vary with the local dominant culture and setting. This exploratory study aimed to describe Muslims' prevalent health and medication-related practices and possible implications for culturally competent community pharmacy practice. A descriptive cross-sectional survey was administered to a convenient sample of 100 participants at Lisbon Central Mosque, Portugal. Demographics, dietary, Traditional Arabic and Islamic Medicine (TAIM) and religious practices were examined, including health conditions and conventional biomedical treatments. Participant reported ailments (26%) were aligned with prevalent conditions in the general population. Ill participants were significantly associated with TAIM and Islamic dictates (p < 0.05), particularly Zam-Zam water and milk thistle usage. Participants' orientation to dietary options and Qur'an restrictions were observed regarding forbidden substances in medication, raising issues on medication adherence for some oral dosage forms. TAIM and religious beliefs supplement illness recovery and health improvement instead of replacing conventional healthcare in a religious minority well integrated within the dominant culture. Portuguese community pharmacists should not neglect religious specificities if seamless care is delivered, enhancing professionals' collaboration skills with multicultural patients.

Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.

PURPOSE: Congenital fibrosis of the extraocular muscles type I (CFEOM1), the most common CFEOM worldwide, is characterized by bilateral ptotic hypotropia, an inability to supraduct above the horizontal midline, horizontal strabismus (typically exotropia), and ophthalmoplegia with abnormal synkinesis. This distinct non-syndromic phenotype is considered autosomal dominant and is virtually always from heterozygous missense mutations in kinesin family member 21A (KIF21A). However, there are occasional KIF21A-negative cases, opening the possibility for a recessive cause. The objective of this study is to explore this possibility by assessing CFEOM1 patients exclusively from consanguineous families, who are the most likely to have recessive cause for their phenotype if a recessive cause exists. METHODS: Ophthalmic examination and candidate gene direct sequencing (KIF21A, paired-like homeobox 2A [PHOX2A], tubulin beta-3 [TUBB3]) of CFEOM1 patients from consanguineous families referred for counseling from 2005 to 2010. RESULTS: All 5 probands had classic CFEOM1 as defined above. Three had siblings with CFEOM. None of the probands had mutations in KIF21A, PHOX2A, or TUBB3. CONCLUSIONS: The lack of KIF21A mutations in CFEOM1 patients exclusively from consanguineous families, most of whom had siblings with CFEOM, is strong evidence for a recessive form of CFEOM1. Further studies of such families will hopefully uncover the specific locus(loci).

Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission.

Several types of genetic alterations occurring at numerous loci have been described in attention deficit hyperactivity disorder (ADHD). However, the role of rare single nucleotide variants (SNVs) remains under investigated. Here, we sought to identify rare SNVs with predicted deleterious effect that may contribute to ADHD risk. We chose to study ADHD families (including multi-incident) from a population with a high rate of consanguinity in which genetic risk factors tend to accumulate and therefore increasing the chance of detecting risk alleles. We employed whole exome sequencing (WES) to interrogate the entire coding region of 16 trios with ADHD. We also performed enrichment analysis on our final list of genes to identify the overrepresented biological processes. A total of 32 rare variants with predicted damaging effect were identified in 31 genes. At least two variants were detected per proband, most of which were not exclusive to the affected individuals. In addition, the majority of our candidate genes have not been previously described in ADHD including five genes (NEK4, NLE1, PSRC1, PTP4A3, and TMEM183A) that were not previously described in any human condition. Moreover, enrichment analysis highlighted brain-relevant biological themes such as "Glutamatergic synapse", "Cytoskeleton organization", and "Ca2+ pathway". In conclusion, our findings are in keeping with prior studies demonstrating the highly challenging genetic architecture of ADHD involving low penetrance, variable expressivity and locus heterogeneity.

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity. The interplay of de novo and inherited rare variants has been suspected in the development of ASD. Here, we applied whole exome sequencing (WES) on 19 trios from singleton Saudi families with ASD. We developed an analysis pipeline that allows capturing both de novo and inherited rare variants predicted to be deleterious. A total of 47 unique rare variants were detected in 17 trios including 38 which are newly discovered. The majority were either autosomal recessive or X-linked. Our pipeline uncovered variants in 15 ASD-candidate genes, including 5 (GLT8D1, HTATSF1, OR6C65, ITIH6 and DDX26B) that have not been reported in any human condition. The remaining variants occurred in genes formerly associated with ASD or other neurological disorders. Examples include SUMF1, KDM5B and MXRA5 (Known-ASD genes), PRODH2 and KCTD21 (implicated in schizophrenia), as well as USP9X and SMS (implicated in intellectual disability). Consistent with expectation and previous studies, most of the genes implicated herein are enriched for biological processes pertaining to neuronal function. Our findings underscore the private and heterogeneous nature of the genetic architecture of ASD even in a population with high consanguinity rates.

The optic nerve head in congenital fibrosis of the extraocular muscles.

OBJECTIVE: Optic nerve head abnormalities have been reported in some patients with congenital fibrosis of the extraocular muscles (CFEOM). This study prospectively assesses optic nerve head appearance in a consecutive CFEOM cohort. METHODS: All patients with CFEOM referred between 2006 and 2010 and who were mature enough to cooperate with fundus photography were included. Fundus photographs were reviewed with attention to optic nerve head features (eg, cupping >0.6, asymmetric cupping >0.3, optic nerve hypoplasia). Interested participants had CFEOM candidate gene analysis (KIF21A, TUBB3, PHOX2A) for genetic counseling purposes. RESULTS: Ten CFEOM patients (five CFEOM1, five CFEOM3, age range 5-23 years) from eight families (all consanguineous but one) participated. All 10 patients had notable disc excavation (5) or optic nerve hypoplasia (5). CFEOM candidate gene analysis was performed in all patients and revealed a heterozygous p.R954W KIF21A mutation only in the patient who was not from a consanguineous family. CONCLUSIONS: Our observations suggest the optic nerve head can be affected by the orbital dysinnervation that occurs in CFEOM. Because careful clinical optic nerve head assessment is difficult in young patients with CFEOM and associated large angle incomitant strabismus, optic nerve head abnormalities may be under-diagnosed. The absence of mutations in known CFEOM genes in our cohort of consanguineous families suggests further genetic heterogeneity of this group of conditions.