Epistasis and the sensitivity of phenotypic screens for beta thalassaemia

Genetic disorders of haemoglobin, particularly the sickle cell diseases and the alpha and beta thalassaemias, are the commonest inherited disorders worldwide. The majority of affected births occur in low-income and lower-middle income countries. Screening programmes are a vital tool to counter these haemoglobinopathies by: (i) identifying individual carriers and allowing them to make informed reproductive choices, and (ii) generating population level gene-frequency estimates, to help ensure the optimal allocation of public health resources. For both of these functions it is vital that the screen performed is suitably sensitive. One popular first-stage screening option to detect carriers of beta thalassaemia in low-income countries is the One Tube Osmotic Fragility Test (OTOFT). Here we introduce a population genetic framework within which to quantify the likely sensitivity and specificity of the OTOFT in different epidemiological contexts. We demonstrate that interactions between the carrier states for beta thalassaemia and alpha thalassaemia, glucose-6-phosphate dehydrogenase deficiency and Southeast Asian Ovalocytosis have the potential to reduce the sensitivity of OTOFTs for beta thalassaemia heterozygosity to below 70%. Our results therefore caution against the widespread application of OTOFTs in regions where these erythrocyte variants co-occur

Participation in Peer-Play Activities Among Children With Specific Learning Disability: A Randomized Controlled Trial

OBJECTIVE: Children with a specific learning disability (SLD) have deficits in social and academic competence and executive function (EF). In this study, we used the Model of Human Occupation to investigate the effect of peer-play activities on occupational values and competence as well as EF skills (i.e., behavior regulation and metacognition) in children with SLD. METHOD: Forty-nine children ages 7-11 yr with SLD were randomly assigned to the peer-play and control groups. Outcome measures were the Behavior Rating Inventory of Executive Function and the Child Occupational Self-Assessment (COSA). RESULTS: Data analysis showed that the effects of the intervention on EF skills were medium to large. The occupational values and competence did not change according to the COSA. CONCLUSION: Occupational therapy practitioners can use peer-play activities to enhance EF in children with SLD; however, perceived occupational values and competence may not show any changes with the peer-play intervention using a self-assessment instrument. Copyright © 2019 by the American Occupational Therapy Association, Inc

Prevalence of Psychiatric Symptoms and Mental Health Services in Students with Specific Learning Disabilities in Tehran, Iran

Children with specific learning disabilities are at a greater risk of mental health problems than their non-disabled peers. Further interventions and research will be required. This is a cross-sectional study. A sample of 107 students (7 to 11 years old) with specific learning disabilities were randomly selected from educational and rehabilitation settings in Tehran. The Child Symptom Inventory-4 (CSI-4) (parent checklist) was administered. Among children studied, 86 subjects (82.8 ) in some of the categories of psychiatric symptoms gained scores above the cut-off point. The most prevalent psychiatric symptoms were related to attention-deficit/hyperactivity disorder, generalized anxiety disorder and oppositional defiant disorder. There were not any statistically significant differences between the genders. In addition to direct education, 15 subjects (14 ) were receiving medication, 2 subjects (1.9 ) were receiving only occupational therapy, 2 subjects (1.9 ) were receiving only speech therapy, and 5 subjects (4.7 ) were receiving both occupational and speech therapy. The emphasis on considering co-morbid symptoms and usage of mental health services are important issues for students with specific learning difficulties. © 2015, Springer Science+Business Media New York

Vitamin deficiency in golestan province, northern Iran: A high-risk area for esophageal cancer

Objectives: Dietary factors seem to play a major role in esophageal carcinogenesis in Golestan Province, a high-incidence area for esophageal cancer in northern Iran. The current study was conducted to evaluate previous reports on severe deficiency of vitamin intake in Golestan. Methods: Using a food frequency questionnaire, food intake data were collected from 30,463 healthy participants in the Golestan Cohort Study. Intake of selected nutrients was compared with recommended daily allowance and lowest threshold intake values. Results: Vitamin A intake in the majority of participants was lower than recommended values. The proportion of participants with intakes lower than lowest threshold intake was as follows: urban men, 20%; urban women, 31%; rural men, 48%; and rural women, 64%. The pattern of vitamin C deficiency was similar to that of vitamin A, however, vitamin C deficiency was less common. Daily intake of vitamin C lower than the LTI was as follows: urban men, 6%; urban women, 9%; rural men, 13%; and rural women, 19%. On the other hand, protein intake in the majority of the general population in Golestan was higher than recommended values. Conclusion: Severe deficiency in vitamin intake among women and rural dwellers may partly explain the high incidence of EC among inhabitants in rural areas and the male:female ratio that is approximately 1 in Golestan; while EC is much more common in men in many low-incidence areas