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- Helbig, K. L., et al.
(author)
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
- 2018
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 103:5, s. 666-678
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Journal article (peer-reviewed)abstract
- Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the alpha(1)-subunit of the voltage-gated Ca(V)2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed Ca(V)2.3 channel activation gate. Functional analysis of several S6 variants revealed consistent gain-of-function effects comprising facilitated voltage-dependent activation and slowed inactivation. Another variant located in the domain II S4-S5 linker results in facilitated activation and increased current density. Five participants achieved seizure freedom on the anti-epileptic drug topiramate, which blocks R-type calcium channels. We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders.
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- Ahmed, Fatuma A., et al.
(author)
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Assessing knowledge, attitude, and practice of emergency contraception: a cross-sectional study among Ethiopian undergraduate female students
- 2012
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In: BMC Public Health. - : Springer Science and Business Media LLC. - 1471-2458. ; 12
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Journal article (peer-reviewed)abstract
- Background: Emergency contraception (EC) is a type of modern contraception which is indicated after unprotected sexual intercourse when regular contraception is not in use. The importance of EC is evident in preventing unintended pregnancies and its ill consequences like unintended child delivery or unsafe abortion, which are the most common causes of maternal mortality. Therefore, EC need to be available and used appropriately as a backup in case regular contraception is not used, misused or failed. Knowing that Ethiopia is one of the countries with highest maternal mortality rate, this study aimed to assess the knowledge, attitude and practice of EC, and to further elucidate the relationship between these factors and some socioeconomic and demographic characteristics among female undergraduate students of Addis Ababa University (AAU). This information will contribute substantially to interventions intended to combat maternal mortality. Methods: A Cross-sectional quantitative study among 368 AAU undergraduate students was conducted using self-administered questionnaire. Study participants were selected by stratified random sampling. Data was entered and analyzed using SPSS Version 17. Results were presented using descriptive statistics, cross-tabulation and logistic regression. Results: Among the total participants (n = 368), only 23.4% were sexually active. Majority (84.2%) had heard of EC; 32.3% had a positive attitude towards it. The main source of information reported by the respondents was Media (69.3%). Among those who were sexually active, about 42% had unprotected sexual intercourse. Among those who had unprotected sexual intercourse, 75% had ever used EC. Sexually active participants had significantly better attitude towards EC than sexually inactive participants (crude OR 0.33(0.15-0.71)); even after adjusting for possible confounders such as age, region, religion, ethnicity, marital status, department and family education and income (adj. OR 0.36(0.15-0.86)). Conclusions: The study showed high EC awareness and usage in contrast to other studies in the city, which could be due to the fact that university students are relatively in a better educational level. Therefore, it is highly recommended that interventions intended to combat maternal mortality through contraceptive usage need to be aware of such information specific to the target groups.
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- Al Banna, MH, et al.
(author)
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Nutritional Value of Dry Fish in Bangladesh and Its Potential Contribution to Addressing Malnutrition: A Narrative Review
- 2022
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In: FISHES. - : MDPI AG. - 2410-3888. ; 7:5
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Research review (other academic/artistic)abstract
- Understanding the linkage between the nutrient composition of foods and individuals’ recommended nutrient intake is important to address malnutrition. Despite it being a traditional and popular food item in Bangladesh, the nutrient composition of dry fish has not been reviewed yet. This study used a narrative review to assess the nutrient composition of dry fish and estimated its potential contribution to addressing some common nutritional deficiencies among children and pregnant and lactating women in Bangladesh. Records were collected from different databases, including the Web of Science, Google Scholar, PubMed, ScienceDirect, Banglajol, and ResearchGate. Data were extracted from 48 articles containing 1128 entries regarding nutrient composition. Most of the nutrient analyses estimated the proximate composition, whereas vitamin, mineral, amino acid, and fatty acid compositions were scarce in the literature. We found that dry fish has high protein and mineral content and could contribute highly to meeting the recommended nutrient intake of protein, iron, zinc, and calcium for children and pregnant and lactating women. The summarized nutrient composition data could be useful for further research to observe how dry fish could be best utilized to address malnutrition in Bangladesh. This narrative review recommends that further nutrient analysis, with emphasis on vitamin, mineral, and fatty acid compositions.
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- Nahhas, M. A., et al.
(author)
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Epidemiology of overweight and obesity in early childhood in the Gulf Cooperation Council countries: a systematic review and meta analysis protocol
- 2018
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In: Bmj Open. - : BMJ. - 2044-6055. ; 8:6
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Journal article (peer-reviewed)abstract
- Introduction There has been a notable increase in the prevalence of overweight and obesity in school-aged children in many industrialised regions. The worldwide prevalence of childhood overweight and obesity increased from 4.2% in 1990 to 6.7% in 2010. Although many studies have been published, the epidemiological burden of overweight and obesity in the Gulf Cooperation Council (GCC) countries (Bahrain, Kuwait, Oman, Qatar, Saudi Arabia and the United Arab Emirates) is unclear. There is a need to bring together and appraise relevant studies in order to estimate the epidemiological burden (including incidence, prevalence, risk factors, trend over time) of overweight and obesity in this region and thus help to inform national and regional policies. Methods and analysis We will conduct a systematic review and meta-analysis on the epidemiology of overweight and obesity in early childhood including incidence, prevalence, risk factors and trends over time in the GCC countries. We will search international electronic databases including MEDLINE, EMBASE, Cochrane Library, ISI Web of Science, CINAHL, Google Scholar, AMED, Psych INFO, CAB International and WHO Global Health Library for published, unpublished and in-progress epidemiological studies of interest published from inception to 2017. In addition, we will contact an international panel of experts on the topic. There will be no restriction on the language of publication of studies. We will use the Effective Public Health Practice Project (EPHPP) to appraise the methodological quality of included studies. Meta-analysis will be undertaken using random effects models. Ethics and dissemination Ethical approval is riot required. The outcome of the review will he disseminated through conference presentations and peer-reviewed journal publication.
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- Peiponen, K. -E, et al.
(author)
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Sorting microplastics from other materials in water samples by ultra-high-definition imaging
- 2023
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In: Journal of the European Optical Society-Rapid Publications. - : EDP Sciences. - 1990-2573. ; 19:1
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Journal article (peer-reviewed)abstract
- In this study a commercial particle analyzer was used to image and help sorting microplastic particles (MPs) dispersed in filtrated and de-aerated tap water. The device provides a relatively easy and fast procedure for obtaining ultra-high-definition imaging, allowing the determination of shape, size, and number of 2D-projections of solid particles. The image analysis revealed clear differences among the studied different MPs originating from the grinding of five common grades of plastic sheets as they affect the image rendering differently, principally due to the light scattering either at the surface or in the volume of the microplastics. The high-quality imaging of the device also allows the discrimination of the microplastics from air bubbles with well-defined spherical shapes as well as to obtain an estimate of the size of MPs in a snapshot. We associate the differences among the shapes of the identified MPs in this study depending on the plastic type with known physical properties, such as brittleness, crystallinity, or softness. Furthermore, as a novel method we exploit a parameter based on the light intensity map from moving particles in cuvette flow to sort MPs from other particles, such as, wood fiber, human hair, and air bubbles. Using the light intensity map, which is related to the plastic-water refractive index ratio, the presence of microplastics in water can be revealed among other particles, but not their specific plastic type.
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