Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar.

The effectiveness of next generation sequencing at solving genetic disease has motivated the rapid adoption of this technology into clinical practice around the world. In this study, we use whole exome sequencing (WES) to assess 48 patients with Mendelian disease from 30 serial families as part of the "Qatar Mendelian Disease pilot program" - a coordinated multi-center effort to build capacity and clinical expertise in genetic medicine in Qatar. By enrolling whole families (parents plus available siblings), we demonstrate significantly improved discriminatory power for candidate variant identification over trios for both de novo and recessive inheritance patterns. For the same index cases, we further demonstrate that even in the absence of families, variant prioritization is improved up to 8-fold when a modest set of population-matched controls is used vs large public databases, stressing the poor representation of Middle Eastern alleles in presently available databases. Our in-house pipeline identified candidate disease variants in 27 of 30 families (90%), 23 of which (85%) harbor novel pathogenic variants in known disease genes, pointing to significant allelic heterogeneity and founder mutations underlying Mendelian disease in the Middle East. For 6 of these families, the clinical presentation was only partially explained by the candidate gene, suggesting phenotypic expansion of known syndromes. Our pilot study demonstrates the utility of WES for Middle Eastern populations, the dramatic improvement in variant prioritization conferred by enrolling population-matched controls and/or enrolling additional unaffected siblings at the point-of-care, and 25 novel disease-causing alleles, relevant to newborn and premarital screening panels in regional populations.

Viral infections amidst COVID-19 in Africa: Implications and recommendations.

Viral infections have been on the rise for the past decades. The impact of the viruses worsened amidst the pandemic burdening the already overwhelmed health care system in African countries. This article sheds light on how the coronavirus together with the already existing viral infections, some of which re-emerged, impacted the continent. The strategies in place such as immunization, education, will have to be strengthened in all African countries to reduce the burden. Furthermore, governments can further collaborate with other countries in creating guidelines to reduce co-infection of the diseases.

Cross-sectional community-based study of the socio-demographic factors associated with the prevalence of dengue in the eastern part of Sudan in 2011.

BACKGROUND: Dengue is caused by an arthropod-borne flavivirus. Infection can be either primary or secondary based on serology, with each stage of the disease characterized by specific serological conversion and antibody formation. Further study is needed to fully identify the factors associated with and predisposing to dengue infection. The objective of this study was to identify socio-demographic factors associated with the prevalence of dengue serotypes in Kassala State in the eastern part of Sudan in 2011. METHODS: This was a cross-sectional community-based study with 530 participants who were randomly selected through multi-stage cluster sampling. Dengue serotype prevalence was determined using capture Enzyme-linked immunosorbent assay (ELISA). ELISA IgG. A multivariate logistic regression model was designed to measure the strength of associations between socio-demographic factors and dengue serotype prevalence. All participants who tested negative for dengue were used as the statistical reference group. RESULTS: From this study, the prevalence of dengue in Kassala was estimated to be 9.4% (95% CI: 7.1-12.3). Lack of knowledge about dengue fever disease (OR 2.8, 95% CI: 1.24-6.53) and a household density of more than 3 people per room (OR 2.1, 95% CI: 1.06-4.09) were the most important factors associated with dengue infection among the study population. CONCLUSIONS: Community-oriented interventions are needed to modify existing social behaviors to reduce the risk of dengue in the eastern part of Sudan. Additional studies are also required in this field.

Social interactions within the Sudanese healthcare system: traditional healers and psychiatrists.

From a cultural perspective, traditional healing has had a substantial impact on psychiatric management in rural African communities, but the services provided by traditional healers are not integrated with the mental health services provided by primary healthcare. In Sudan, modern psychiatry has seen minimal development beyond the capital city of Khartoum. In rural communities, traditional health practitioners (THPs) are the first point of entry to mental health services. Effective collaboration between THPs and consultant psychiatrists should be encouraged by the introduction of health education that targets THPs, especially in rural communities. This would facilitate the integration of mental health services into primary healthcare and help achieve universal health coverage for psychiatric disorders in Sudan.

Sudan's unmet mental health needs: A call for action.

Multiple humanitarian and economic crises in Sudan, including a 22-year civil war and the Darfur genocide in 2003, have resulted in over two million fatalities, food shortages, famine and widespread internal displacement. and the COVID-19 pandemic have culminated in the compromise of mental health services. The Sudanese government had declared a state of emergency on October 25th, 2021 which augmented the current humanitarian crises through further restriction of access to essential services. In an effort to curb the mental health crisis, new service delivery models led by educational institutions in collaboration with non-governmental, regional and international organisations.

The simultaneous crises of dengue and COVID-19 in Pakistan: a double hazard for the country's debilitated healthcare system.

Dengue fever is an arthropod-borne viral illness caused by four dengue virus serotypes (DENV 1-4), spread by Aedes mosquitos. Common symptoms of dengue include high peak temperature, headache, myalgia, and malaise following infection, with a rash emerging after 3 to 4 days. More than half of the world's population lives in dengue-endemic areas. Every year, around 100 million dengue cases are reported, with Southeast Asia comprising the majority. Nearly every day, there is a breakout of dengue infections in many areas of Pakistan, in addition to the ongoing COVID-19 pandemic. As a result, combating the dual burden of dengue and COVID-19 is difficult for the nation's healthcare system. Misdiagnosis owing to overlapping symptoms with COVID-19, overburdening of the healthcare system, and a lack of appropriate vaccination are some of the obstacles for dengue infection management. The government of Pakistan is pursuing a variety of measures to combat dengue fever outbreaks, including, The Pakistan Red Crescent Society was asked by the Department of Malaria Control Program to aid in promoting awareness and organizing clean-up campaigns in polluted regions and stagnant water for vector control.

Antimicrobial resistance and one health in the post COVID-19 era: What should health students learn?

Antimicrobial resistance (AMR) is a critical worldwide health issue that jeopardizes our ability to fight illnesses. However, despite being a natural phenomenon, AMR is exacerbated in the world by inappropriate administration of an antimicrobial medication such as under-use or overuse by the general population, farmers, and various health professionals. The onset of the COVID-19 pandemic has put the world in a shocking state. The pandemic exacerbated the problem of antimicrobial resistance, which was largely caused by irrational off-label use of antivirals, anthelmintics, antimalarials, and, most notably, macrolide antibiotics. As a result, monitoring the AMR progression during the pandemic has been critical. The One Health Approach is progressively becoming the most widely utilized and recommended approach in the ongoing fight against AMR. The aim of this article is to address the lack of teachings in AMR and the One Health Approach in health student training curricula, as well as to provide recommendations that can be implemented as we progress beyond the COVID-19 era.

Perception and practice of self-medication with antibiotics among medical students in Sudanese universities: A cross-sectional study.

INTRODUCTION: The benefits of antibiotics are under threat by self-medication, which culminated in economic burdening of developing countries, treatment failures, the emergence of antibiotic-resistant strains of bacteria and an increased probability of exposure and infection of the general population by antibiotic-resistant bacterial strains. OBJECTIVES: This study aimed to evaluate the knowledge and attitude of medical students in Sudan towards the use of antibiotics, the prevalence of self-medication with antibiotics among medical students in Sudan and to identify risk factors which promote self-medication with antibiotics. MATERIALS AND METHODS: This was a cross-sectional, descriptive and institution-based study, between November 2020 and May 2021. 1,110 medical students were selected by multistage cluster sampling. Logistic regression was used to identify risk factors of self-medication with antibiotics among the study participants. RESULTS: The median knowledge score was 7 out of a maximum of 10 (IQR: 5-8). A moderately positive attitude was observed among the participants (Median: 7/10; IQR: 6-8). Knowledge and attitude scores were significantly associated with academic year and monthly allowance (p < 0.05). 675 (60.8%) self-medicated with antibiotics within the previous 12 months, mostly from community pharmacies (321/675; 47.5%). Antibiotics were most commonly used to treat respiratory tract infections (38.1%) and cough (30.4%). Chi-square analysis demonstrated that self-medication with antibiotics was significantly associated with gender, year of study and monthly income. CONCLUSIONS: Undergraduate medical students had moderate knowledge and attitude towards antibiotic use and antibiotic resistance, and an alarmingly high prevalence of self-medication with antibiotics. This highlights the urgent need for tighter legislation regarding the sales of antibiotics in community pharmacies by the state and federal health ministries.

Antifungal Drugs Shortage in India amidst Looming Increase in Invasive Fungal Infections among COVID-19 Patients: An Impending Crisis.

The widespread prevalence of fungal infections in the second wave of COVID-19 pandemic could be owed to ubiquitous and injudicious use of steroids and immunosuppressive nature of the virus. However, these fungal infections also meant increased use of antifungal drugs, hence endangering their supply. Amphotericin B is the first line drug for mucormycosis which was declared as an epidemic in India during the second wave. With the increasing demand of the drug, came challenges to manufacture and supply large quantities of the drug and exploitation by creating a black market and spread of false information and imprudent usage. It is of utmost importance to be prepared with adequate supply all over the nation and implementing safety regulations in manufacturing and supply of large quantities of drugs during the demanding times and make them accessible at a reasonable rate.

Novel case of a scleroderma-mimicking syndrome associated with gastrointestinal stromal tumour.

We report a case of a 54-year-old man who developed an atypical systemic syndrome involving Raynaud's phenomenon, pulmonary fibrosis and skin thickening. These features were initially suggestive of newly diagnosed scleroderma. However, he displayed atypical clinical features of same, antinuclear antibody was negative and symptoms were refractory to various immunosuppressive therapies. CT imaging revealed a gastric mass, which later proved to be a gastrointestinal stromal tumour (GIST). Resection of the GIST leads to minimal symptomatic improvement. Surveillance imaging 1 year later revealed metastatic deposits. He was subsequently initiated on imatinib therapy, which led to a rapid improvement in fibrotic changes within weeks. While there have been previous descriptions of paraneoplastic fibrotic disorders, this is the first description of a scleroderma mimic in the setting of a GIST. It highlights an important potential overlap in the pathogenesis of these disease processes and the potential efficacy of tyrosine kinase inhibitors for scleroderma-like fibrotic disorders.

Antiviral and antiretroviral drug shortages amidst COVID-19: How Africa is struggling.

Antiviral drugs are of paramount importance in the accomplishment of the vision of zero new cases of COVID-19 globally, through sustainable retaliation against viral diseases. However, several challenges currently exist in Africa which include insufficient infrastructure, deteriorating health systems, and rising costs of healthcare delivery with concomitant rising inequity with regards to access to health services amid the COVID-19 pandemic. The pandemic itself has stimulated an increased use of phytotherapy in Africa as a result of essential drug shortages that have been attributed to a plethora of contributing factors such as travel restrictions, reduced per capita income as well as increased expenditure on transport. As a result, the paucity of antiviral along with antiretroviral drugs used to combat COVID-19 as well as several other endemic viral diseases in Africa has created a worrisome state. This article therefore discusses and aims to underscore the causes, effects, and implications of antiviral and antiretroviral shortages amid COVID-19 in Africa.

Ectopic right coronary artery arising from the left sinus of Valsalva: A rare variant.

An ectopic coronary artery is observed in 0.05-0.1% of angiographic series, may be of tangential origin or proximal endocardial pathway, may result in a slit hole that interferes with flow, and is associated with sudden death.

The fight against the COVID-19 pandemic: Vaccination challenges in Sudan.

The first COVID-19 case in Sudan was announced on March 13th, 2020. 1835 deaths were recorded as of February 7th, 2021. 800,000 doses of the Oxford-AstraZeneca vaccine were allocated to Sudan through COVAX in March 2021. However, multiple challenges exist in vaccinating the Sudanese population, ranging from an inadequate cold chain system to low acceptance rates of COVID-19 vaccination among the Sudanese population. Economic crises, high inflation rates and long-standing economic sanctions have also negatively impacted the healthcare system in Sudan as a result of deprivation of access to research and development funding.

The Epidemiology of Trachoma in Darfur States and Khartoum State, Sudan: Results of 32 Population-Based Prevalence Surveys.

PURPOSE: To complete the baseline trachoma map of Sudan by estimating the prevalence of trachoma and associated risk factors in the five Darfur States and Khartoum State. METHODS: Using a standardized methodology developed for the Global Trachoma Mapping Project, we undertook a cross sectional, community-based survey in each of 32 evaluation units (EUs) covering all accessible districts. RESULTS: We enumerated a total of 84,568 individuals, with 73,489 people (86.9%) examined from 20,242 households in 908 villages. The highest prevalence of trachomatous inflammation - follicular (TF) in children was found in El Fashir district (18.7%), and the lowest in El Malha district (0.0%). Five districts (El Fashir, Zalinji, Azoom, Maleet, and El Koma) were in the three EUs that had TF prevalences above the 10% threshold at which the World Health Organization recommends mass treatment with azithromycin, together with facial clean3liness and environmental improvement interventions, for at least 3 years. The highest trachomatous trichiasis prevalence in adults was found in the EU composed of Forbranga and Habillah (1.2%), and the lowest in the EU composed of As-salam and Belale districts in South Darfur (0.0%). TF in children was independently associated with younger age, unimproved sanitation in the household, having ≥5 children in the household, outside annual maximum temperatures <40°C, and living in an internally displaced persons camp. CONCLUSION: We found a high prevalence of trachoma in some areas of Darfur, but in general the prevalence throughout Darfur and Khartoum was low.

Sero-prevalence of dengue infections in the Kassala state in the eastern part of the Sudan in 2011.

Dengue fever is a vector-borne disease that is transmitted to humans by infected Aedes aegypti mosquitoes. The eastern part of the Sudan is one of the regions that is affected by dengue virus circulation. In this study, we estimated the prevalence of dengue infections in the Kassala state in the eastern part of the Sudan. The study objective was to estimate the sero-prevalence of dengue IgG/IgM antibodies in the Kassala locality in 2011. This was a cross sectional community-based study that utilized a multi-stage cluster sampling technique regarding the probability sampling the study participants. Capture ELISA serological techniques were used for both IgM and IgG, with the specific cut-offs for each set by the manufacturer. The prevalence of dengue infection was found to be 9.4% (95% CI: 7.1-12.3). In conclusion, there is evidence that the dengue virus is being transmitted in Kassala. Disease surveillance, including the clinical, serological and entomological components, should be strengthened, and additional epidemiological studies are needed to better understand of the disease burden and effects in the area.