GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment

Cultural differences in postnatal quality of life among German-speaking women - a prospective survey in two countries.

Assessment of quality of life after childbirth is an important health-outcome measurement for new mothers and is of special interest in midwifery. The Mother-Generated Index (MGI) is a validated instrument to assess postnatal quality of life. The tool has not been applied for making a cross-cultural comparison before. This study investigated (a) responses to the MGI in German-speaking women in Germany and Switzerland; and (b) associations between MGI scores on the one hand and maternity and midwifery care on the other

Determinants of Capital Flight in the East African Community

The region has lost an immense amount of capital that has led to sluggish regional integration in terms of capital formation and productive capabilities. Albeit most of these countries are in the ranking list of the huge volumes of capital flight, East Africa has never been considered as a sub-region in the capital-related studies. Cognizant of this, this paper intends to contribute to this body of knowledge by filling a noticeable gap. This paper examined the determinant of capital flight from East African Community countries that include Kenya, Tanzania, Uganda, Rwanda, and Burundi using panel data for the years 1988 to 2018 using the real gross domestic product, interest rate differential, external debt, corruption index, and exchange rate as explanatory variables. Secondary data obtained from EAC member countries National Bureau of Statistics. Levin-Lin-Chu panel unit root test was carried out and capital flight and Exchange rate found to be stationary at level. The fixed effect regression results showed that corruption, external debt, and the exchange rate had a positive and statistically significant effect on capital flight while real GDP had a negative and statistically significant effect on capital flight. Thus, policymakers should endeavor to achieve a broad investor base for its domestic and foreign obligations, with due regard to cost and risk, and should treat investors equally. In addition, there is a need to harmonize the judiciary and the executives in EAC to facilitate the fight against corruption which is a major concern for a capital flight. Keywords: Capital flight, External debt, Exchange rate, GDP, Corruption, EAC DOI: 10.7176/JESD/12-10-01 Publication date:May 31st 2021

Pedagogical Factors Affecting Integration of Computers in Mathematics Instruction in Secondary Schools in Kenya

The paper reports findings of a study which sought to examine the pedagogical factors that affect the integration of computers in mathematics instruction as perceived by teachers in secondary schools in Kenya. This study was based on the Technology Acceptance Model (TAM). A descriptive survey design was used for this study. Stratified and simple random sampling techniques were used to select a sample of 200 teachers that was drawn independently and randomly from the stratum of secondary schools. Questionnaires, interview and observation schedules were used to collect data from respondents. Data was analyzed using descriptive statistics frequencies and percentages and inferential statistics including one way analysis of variance and regression analysis. The results indicate that mathematics teachers’ use of computer technology is significantly related to pedagogical factors such as knowledge and skills in computer, perceived usefulness, access to hardware and software and technical support and pedagogical routine practice. The study provides a basis upon which recommendations on appropriate remedies can be formulated to enhance the integration of computers in mathematics instruction by teachers. This also provides a guideline for the selection of sound instructional approaches in mathematics instruction in secondary schools. Keywords: ICT pedagogy, instructional software, mathematics classroom

On the regular-geometric-figure solution to the N-body problem

The regular-geometric-figure solution to the $N$-body problem is presented in a very simple way. The Newtonian formalism is used without resorting to a more involved rotating coordinate system. Those configurations occur for other kinds of interactions beyond the gravitational ones for some special values of the parameters of the forces. For the harmonic oscillator, in particular, it is shown that the $N$-body problem is reduced to $N$ one-body problems.Comment: To appear in Eur. J. Phys. (5 pages

Larval survivorship and settlement of crown-of-thorns starfish (Acanthaster cf. solaris) at varying algal cell densities

The dispersal potential of crown-of-thorns starfish (CoTS) larvae is important in understanding both the initiation and spread of population outbreaks, and is fundamentally dependent upon how long larvae can persist while still retaining the capacity to settle. This study quantified variation in larval survivorship and settlement rates for CoTS maintained at three different densities of a single-celled flagellate phytoplankton, Proteomonas sulcata (1 x 10^3, 1 x 10^4, and 1 x 10^5 cells/mL). Based on the larval starvation hypothesis, we expected that low to moderate levels of phytoplankton prey would significantly constrain both survival and settlement. CoTS larvae were successfully maintained for up to 50 days post-fertilization, but larval survival differed significantly between treatments. Survival was greatest at intermediate food levels (1 x 10^4 cells/mL), and lowest at high (1 x 10^5 cells/mL) food levels. Rates of settlement were also highest at intermediate food levels and peaked at 22 days post-fertilization. Peak settlement was delayed at low food levels, probably reflective of delayed development, but there was no evidence of accelerated development at high chlorophyll concentrations. CoTS larvae were recorded to settle 17–43 days post-fertilization, but under optimum conditions with intermediate algal cell densities, peak settlement occurred at 22 days post-fertilization. Natural fluctuations in nutrient concentrations and food availability may affect the number of CoTS that effectively settle, but seem unlikely to influence dispersal dynamics

Stavudine toxicity in adult longer-term ART patients in Blantyre, Malawi

BACKGROUND: Stavudine is an effective and inexpensive antiretroviral drug, but no longer recommended by WHO for first-line antiretroviral regimens in resource-limited settings due to toxicity concerns. Because of the high cost of alternative drugs, it has not been feasible to replace stavudine in most adults in the Malawi ART programme. We aimed to provide policy makers with a detailed picture of stavudine toxicities in Malawians on longer-term ART, in order to facilitate prioritization of stavudine replacement among other measures to improve the quality of ART programmes. METHODS: Prospective cohort of Malawian adults who had just completed one year of stavudine containing ART in an urban clinic, studying peripheral neuropathy, lipodystrophy, diabetes mellitus, high lactate syndromes, pancreatitis and dyslipidemia during 12 months follow up. Stavudine dosage was 30 mg irrespective of weight. Cox regression was used to determine associations with incident toxicities. RESULTS: 253 patients were enrolled, median age 36 years, 62.5% females. Prevalence rates (95%-confidence interval) of toxicities after one year on stavudine were: peripheral neuropathy 21.3% (16.5-26.9), lipodystrophy 14.7% (2.4-8.1), high lactate syndromes 0.0% (0-1.4), diabetes mellitus 0.8% (0-2.8), pancreatitis 0.0% (0-1.5). Incidence rates per 100 person-years (95%-confidence interval) during the second year on stavudine were: peripheral neuropathy 19.8 (14.3-26.6), lipodystrophy 11.4 (7.5-16.3), high lactate syndromes 2.1 (0.7-4.9), diabetes mellitus 0.4 (0.0-1.4), pancreatitis 0.0 (0.0-0.2). Prevalence of hypercholesterolemia and hypertriglyceridemia increased from 12.1% to 21.1% and from 29.5% to 37.6% respectively between 12 and 24 months. 5.5% stopped stavudine, 1.3% died and 4.0% defaulted during follow up. Higher age was an independent risk factor for incident peripheral neuropathy and lipodystrophy. CONCLUSION: Stavudine associated toxicities continued to accumulate during the second year of ART, especially peripheral neuropathy and lipodystrophy and more so at increasing age. Our findings support investments for replacing stavudine in first-line regimens in sub-Saharan Africa

Convective thundercloud development over the western ghats mountain slope in Kerala

Studies were carried out on the data from Braemore mountain observatory (lat. 8°45'N, long. 77°5'E) using a single-lens ceilometer (LIDAR), an electric field mill and a portable automatic weather station throughout the year 2010. The simultaneous data collected using the above instruments indicate the existence of strong updrafts followed by the formation of thunderclouds, a characteristic of the mountain slopes, during the thunderstorm months. Changes in atmosphere related to condensation and formation of water droplets during updraft events on the mountain slope could be detected from the ceilometer scattering data. Results of the study point to the cause of relatively more thunderstorm activity in that zone. This seems to be due to excessive updraft, which is strongly related to lightning activity in the region

Ocean warming has greater and more consistent negative effects than ocean acidification on the growth and health of subtropical macroalgae

Macroalgae are the major habitat-forming organisms in many coastal temperate and subtropical marine systems. Although climate change has been identified as a major threat to the persistence of macroalgal beds, the combined effects of ocean warming and ocean acidification on algal performance are poorly understood. Here we investigate the effects of increased temperature and acidification on the growth, calcification and nutritional content of 6 common subtropical macroalgae; Sargassum linearifolium, Ulva sp., Amphiroa anceps, Corallina officinalis, Delisea pulchra and Laurencia decussata. Algae were reared in a factorial cross of 3 temperatures (23°C [ambient], 26°C and 28°C) and 3 pH levels (8.1 [ambient], 7.8 and 7.6) for 2 wk. The highest (28°C) temperature decreased the growth of all 6 macroalgal species, irrespective of the pH levels. In contrast, the effect of decreased pH on growth was variable. The growth of Ulva sp. and C. officinalis increased, L. decussata decreased, while the remaining 3 species were unaffected. Interestingly, the differential responses of macroalgae to ocean acidification were unrelated to whether or not a species was a calcifying alga, or their carbon-uptake mechanism—2 processes that are predicted to be sensitive to decreased pH. The growth of the calcifying algae (C. officinalis and A. anceps) was not affected by reduced pH but calcification of these 2 algae was reduced when exposed to a combination of reduced pH and elevated temperature. The 3 species capable of uptake of bicarbonate, S. linearifolium, L. decussata and Ulva sp., displayed positive, negative and neutral changes in growth, respectively, in response to reduced pH. The C:N ratio for 5 of the 6 species was unaffected by either pH or temperature. The consistent and predictable negative effects of temperature on the growth and calcification of subtropical macroalgae suggests that this stressor poses a greater threat to the persistence of subtropical macroalgal populations than ocean acidification under ongoing and future climate change