Turner syndrome in childhood period – A case Report

INTRODUCTION: Turner syndrome is a frequent chromosome disorder characterized by short stature, gonadal dysgenesis and multisystem diseases associated with high morbidity and reduced life expectancyCASE: We reviewed an 18 month old patient who presented to the genetics unit at Rwanda Military Hospital (RMH), a tertiary healthcare facility, with a chief complaint of poor weight gain. She was born with a birth weight of 1.76kg and in the neonatal period, paediatricians had noticed dysmorphic features. At the first consultation at the RMH genetics unit, he weighed 5.2kg and was 64 cm tall. Physical examinations revealed some dysmorphic features, including hypertelorism, absent philtrum, short and webbed neck and large low set ears. Cytogenetic analysis showed the chromosomal formula of 45, X0. CONCLUSION: ThepatientwasdiagnosedwithTurnersyndromebasedonthecytogeneticanalysis and managed with physiotherapy of stimulation and re-education that led to improvements

Do Tax Audits Have a Dynamic Impact? Evidence from Corporate Income Tax Administrative Data

This is the final version. Available from the University of Exeter Tax Administration Research Centre via the link in this recordMaking use of a unique administrative data set for the period 2013-2018 consist ing of the universe of administrative filings in Rwanda this paper investigates the impact of tax audits on incorporated businesses’ reporting behaviour. Using matched-Difference In-Difference the evidence suggests that the average aggregate effect—estimated across different matching approaches—corresponds to an increase of 20.7% in Corporate Taxable Income (CTI) reported by audited businesses the year after receiving the audit that in turn corresponds to an increase of 12.3% in Corporate Income Tax (CIT) paid by those taxpayers. The results also suggest that the type of audit matters. While comprehensive (face to face) tax audits have a significant pro-deterrence effect with an average increase of 28.5% (24.6%) in CTI reported (and CIT payable), narrow scope (desk-based) tax audits, exhibit a counter-deterrent effect on future reporting behaviour leading to a size able reduction of 23.5% (9.5%) in CTI (and CIT payable) reported by taxpayers that experienced this kind of tax audit. The implication of this is that narrow scope audits are not a substitute for comprehensive audits, and doing more of the former and less of the latter might have a negative impact on tax compliance.Economic and Social Research Council (ESRC

Management challenges of disorders of sex development- Case Series

INTRODUCTION: Disorders of sex development (DSDs) are genetic abnormalities characterized by discordance between phenotypic, gonadal, and genetic sex. They are grouped into two categories based on karyotype: 46, XX DSD and 46, XY DSD.CASES: We reviewed two patients referred to the Rwanda Military Hospital genetic unit. The first patient was a 3-year-old toddler who was referred for confusing sex organs. Physical examination showed ambiguous genital organs with hypospadias and micropenis. Pelvic examination showed a swelling solid mass hat leading to a suspicion of ovary or undescended testes or combined ovary and testes (ovotestes). The second patient was a 17 years old teenager who presented with primary amenorrhea and lack of female secondary sexual characteristics at her age. The karyotype test was performed to investigate the genotypic sex of the patients and results revealed the karyotype formula of 46, XX/XY indicating the presence of two cell lines in the patient for the toddler and 46XYinv9 (p11q13) indicating the mismatch between the genotype and phenotype of the patients for the teenager. CONCLUSION: Patients were diagnosed with Disorder of Sex Development with 46, XX/XY and 46, XY genotypes respectively. A multidisciplinary team of a geneticist, urologist, endocrinologist and a psychologist reviewed the patient for the effective management

Assessment of aflatoxin and fumonisin contamination levels in maize and mycotoxins awareness and risk factors in Rwanda

Mycotoxins are secondary metabolites of fungi that are toxic to humans and animals when consumed in contaminated food and feed. The Rwandan climate conditions like steady temperature and sufficient rainfall favor the growth of fungi leading to high probability of mycotoxins contamination. Mycotoxins get into maize throughout the value chain from the field to processed products. Maize is  promoted in Rwanda under the Crop Intensification Program (CIP), for nutrition and food security. The aim of the study was to evaluate mycotoxins (Aflatoxin and fumonisin) levels in maize and assess awareness and factors associated with mycotoxin contamination in Rwanda. Maize samples (227 kg) from season B 2019 were collected in 15 Districts in five provinces of Rwanda after an interview with a representative of the household or cooperative using a structured questionnaire. The samples were analyzed for aflatoxin and  fumonisin using Reveal Q+ and AccuScan Gold Reader. From the interview, most of the respondents were not aware about aflatoxin (59.7 %) and 99 % did not know the effect of mycotoxins on human health. The average of aflatoxin contamination in surveyed districts was 6.69±13 μg/kg. In general, 90.4 % of samples scored below the limit of aflatoxin level regulated in East Africa/Kenya regulation standards (10 μg/kg). The levels of aflatoxin ranged between 0 and 100.9 μg/kg. The means aflatoxin levels within districts ranged between 1.36±0.5 μg/kg and 13.75±25 μg/kg. Among 9.6 % of the samples containing aflatoxins above the EU and Kenyan regulations standard limit, 5.7 % were above the US standards of 20 μg/kg. Within clusters, the level of aflatoxin more than 10 μg/kg was 5 %, 7 % and 18 % for stores, household and market samples, respectively. From the study, as mechanical damage of grains, moisture content of grains and the temperature of the store house increased, Aflatoxin level also increased. Fumonisin analyzed in maize ranged from 0 to 2.3 μg/g and only one sample from market showed a slightly higher level of fumonisin than the EU and US limit of 2 μg/g. More effort for aflatoxin mitigation is needed at the market level. Farmers need to be aware and taught how they can improve their agricultural system and more knowledge on mycotoxin control is needed. The results point to appropriate measures to recommend for control ofmycotoxins in Rwanda and awareness creation. Key words: AccuScan, Aflatoxin, Fumonisin, Fungal, Maize, Mycotoxins, Reveal Q+, Rwand

Dual Versus Single Oxygenated Hypothermic Machine Perfusion of Porcine Livers:Impact on Hepatobiliary and Endothelial Cell Injury

Background: Hypothermic oxygenated machine perfusion (HOPE) reduces ischemia-reperfusion injury of donor livers and is increasingly used in clinical transplantation. However, it remains unclear whether perfusion via the portal vein alone (HOPE) or via both the portal vein and hepatic artery (dual HOPE or DHOPE) is superior. Methods: Twelve porcine livers donated after circulatory death were randomized for 2 h of HOPE (n = 6) or DHOPE (n = 6), followed by 4 h of warm reperfusion with whole blood, to mimic transplantation. Hepatobiliary and endothelial cell function and injury markers were determined in perfusate and bile samples. Biopsies of bile ducts, hepatic arteries, and liver parenchyma were collected to assess histological damage and the expression of endothelial protective genes (KLF-2, eNOS, ET-1, CD31, VWF, VEGF-A). Results: There were no differences in hepatobiliary function and injury after warm reperfusion between the groups, apart from a 2-fold lower concentration of alanine aminotransferase in the perfusate (P = 0.045) and a lower peak lactate dehydrogenase in bile (P = 0.04) of livers preserved by DHOPE. Endothelial cell function and injury, as assessed by perfusate nitric oxide and von Willebrand factor antigen levels, as well as endothelial protective gene expressions, were similar between the groups. The hepatic arteries of both groups showed no microscopic evidence of injury. Conclusions: This study did not reveal major differences in hepatobiliary or endothelial function and injury after preservation by single or dual HOPE of porcine livers donated after circulatory death

Machine Perfusion of Donor Livers for Transplantation: A Proposal for Standardized Nomenclature and Reporting Guidelines.

With increasing demand for donor organs for transplantation, machine perfusion (MP) promises to be a beneficial alternative preservation method for donor livers, particularly those considered to be of suboptimal quality, also known as extended criteria donor livers. Over the last decade, numerous studies researching MP of donor livers have been published and incredible advances have been made in both experimental and clinical research in this area. With numerous research groups working on MP, various techniques are being explored, often applying different nomenclature. The objective of this review is to catalog the differences observed in the nomenclature used in the current literature to denote various MP techniques and the manner in which methodology is reported. From this analysis, we propose a standardization of nomenclature on liver MP to maximize consistency and to enable reliable comparison and meta-analyses of studies. In addition, we propose a standardized set of guidelines for reporting the methodology of future studies on liver MP that will facilitate comparison as well as clinical implementation of liver MP procedures

Health trends, inequalities and opportunities in South Africa's provinces, 1990-2019: findings from the Global Burden of Disease 2019 Study

Background Over the last 30 years, South Africa has experienced four ‘colliding epidemics’ of HIV and tuberculosis, chronic illness and mental health, injury and violence, and maternal, neonatal, and child mortality, which have had substantial effects on health and well-being. Using data from the 2019 Global Burden of Diseases, Injuries and Risk Factors Study (GBD 2019), we evaluated national and provincial health trends and progress towards important Sustainable Development Goal targets from 1990 to 2019. Methods We analysed GBD 2019 estimates of mortality, non-fatal health loss, summary health measures and risk factor burden, comparing trends over 1990–2007 and 2007–2019. Additionally, we decomposed changes in life expectancy by cause of death and assessed healthcare system performance. Results Across the nine provinces, inequalities in mortality and life expectancy increased over 1990–2007, largely due to differences in HIV/AIDS, then decreased over 2007–2019. Demographic change and increases in non-communicable diseases nearly doubled the number of years lived with disability between 1990 and 2019. From 1990 to 2019, risk factor burdens generally shifted from communicable and nutritional disease risks to non-communicable disease and injury risks; unsafe sex remained the top risk factor. Despite widespread improvements in healthcare system performance, the greatest gains were generally in economically advantaged provinces. Conclusions Reductions in HIV/AIDS and related conditions have led to improved health since 2007, though most provinces still lag in key areas. To achieve health targets, provincial governments should enhance health investments and exchange of knowledge, resources and best practices alongside populations that have been left behind, especially following the COVID-19 pandemic

Health trends, inequalities and opportunities in South Africa's provinces, 1990-2019: findings from the Global Burden of Disease 2019 Study.

BACKGROUND: Over the last 30 years, South Africa has experienced four 'colliding epidemics' of HIV and tuberculosis, chronic illness and mental health, injury and violence, and maternal, neonatal, and child mortality, which have had substantial effects on health and well-being. Using data from the 2019 Global Burden of Diseases, Injuries and Risk Factors Study (GBD 2019), we evaluated national and provincial health trends and progress towards important Sustainable Development Goal targets from 1990 to 2019. METHODS: We analysed GBD 2019 estimates of mortality, non-fatal health loss, summary health measures and risk factor burden, comparing trends over 1990-2007 and 2007-2019. Additionally, we decomposed changes in life expectancy by cause of death and assessed healthcare system performance. RESULTS: Across the nine provinces, inequalities in mortality and life expectancy increased over 1990-2007, largely due to differences in HIV/AIDS, then decreased over 2007-2019. Demographic change and increases in non-communicable diseases nearly doubled the number of years lived with disability between 1990 and 2019. From 1990 to 2019, risk factor burdens generally shifted from communicable and nutritional disease risks to non-communicable disease and injury risks; unsafe sex remained the top risk factor. Despite widespread improvements in healthcare system performance, the greatest gains were generally in economically advantaged provinces. CONCLUSIONS: Reductions in HIV/AIDS and related conditions have led to improved health since 2007, though most provinces still lag in key areas. To achieve health targets, provincial governments should enhance health investments and exchange of knowledge, resources and best practices alongside populations that have been left behind, especially following the COVID-19 pandemic