Medical Specialties Commons^™

A Case Of Charcot-Marie-Tooth Disease Type 2o (Cmt 20) Associated With Dync1h1 And Slc12a6 Mutations, Tehreem Arshad, Muhammad Jawad Hassan, Arsalan Ahmad

Pakistan Journal of Neurological Sciences (PJNS)

Charcot-Marie-Tooth disease (Charcot Marie-Tooth) comprises of a variety of hereditary diseases affecting the peripheral nervous system. Charcot Marie-Tooth2 is a subgroup caused by defects in the axon of the peripheral nerve cells. Charcot Marie-Tooth Type 2O is an uncommon type that affects less than one in a million people and is linked to specific genetic abnormalities. We report a case study of a 66-year-old individual with Charcot Marie-Tooth Type 2O, diagnosed on clinical presentation and identified through genetic analysis. Electromyography and nerve conduction studies supported the diagnosis of an axonal sensorineural neuropathy. A comprehensive genetic neuropathies panel led to the …

Hurdles In Diagnosis Of Familial Amyotrophic Lateral Sclerosis With Anticipation Catastrophe Across Three Generations: A Case Report, Sana Ghous, Alam Ibrahim Siddiqui

Pakistan Journal of Neurological Sciences (PJNS)

Familial amyotrophic lateral sclerosis (F-ALS), a rare hereditary variant of ALS, is characterized by a genetic predisposition to the disease. In this case report, we reveal a compelling instance of F-ALS within a three-generation family, involving a grandfather, son, and grandson, all manifesting early-onset symptoms and progressive upper and lower motor neuron findings. The clinical diagnosis was confirmed through electromyography fulfilling El Escorial criteria of ALS. Our investigation highlights the familial connection in this case, emphasizing the hereditary aspect of ALS. This report underscores the significance of considering familial ALS in cases of successive generational involvement with early onset, a …

Rare Presentation Of Central Nervous System Tuberculosis With Bilateral Anterior Cerebral Artery Aneurysm: A Case Report, Maryam Khalil, Mansoor Iqbal, Samer Naik, Ayma Khan Khan, Zakir Jan, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

Central Nervous System tuberculosis (CNS TB) with intracranial aneurysms is rare and needs prompt diagnosis and early management. The presence of un-ruptured or ruptured aneurysms in the presence of CNS infection is difficult to treat in both acute settings and long-term management because of possible complications prevention. A female of 70 years of age presented with a history of fever, headache, vomiting, and altered sensorium for one week with GCS of 13/15, later developing paraparesis. She was diagnosed to have CNS tuberculosis with complicating bilateral anterior communicating artery (ACA) aneurysms. She was managed conservatively in our hospital and was referred …

Statin Utilization And Cardiovascular Outcomes In A Real-World Primary Prevention Cohort Of Older Adults, Aaron J. Walker, Jianhui Zhu, Floyd Thoma, Oscar Marroquin, Amber Makani, Martha Gulati, Eugenia Gianos, Salim S. Virani, Fatima Rodriguez, Steven E. Reis, Christie Ballantyne

Office of the Provost

Background: Statins are a cost-effective therapy for prevention of atherosclerotic cardiovascular disease (ASCVD). Guidelines on statins for primary prevention are unclear for older adults (>75 years).
Objective: Investigate statin utility in older adults without ASCVD events, by risk stratifying in a large healthcare network.
Methods: We included 8,114 older adults, without CAD, PVD or ischemic stroke. Statin utilization based on ACC/AHA 10-year ASCVD risk calculation, was evaluated in intermediate (7.5%-19.9%) and high-risk patients (≥ 20%); and categorized using low and 'moderate or high' intensity statins with a follow up period of ∼7 years. Cox regression models were used to …

Ocrelizumab In Multiple Sclerosis:Real-World Experience From Baluchistan, Pakistan, Ahmed Wali, Sajid Hameed, Hazar Khan, Amara Ahmed, Madiha Malik

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: Multiple sclerosis (MS) is an autoimmune demyelinating disorder affecting the central nervous system. Ocrelizumab, a disease-modifying drug for MS, is funded by Bait ul Maal Pakistan for economically disadvantaged patients in Balochistan. The objective of this study was to evaluate the treatment response of Ocrelizumab in our population.

Methods: This prospective observational study enrolled 22 patients from three tertiary care hospitals in Balochistan from July 2021 to June 2022. Patients aged 18–50 years diagnosed with MS and without contraindications for Ocrelizumab were included. The Expanded Disability Status Scale (EDSS) was calculated at baseline and at three, six, …

Neurocognitive Outcome Following Tuberculous Meningitis Treatment: A Systematic Review, Muhammad Ilham Dhiya Rakasiwi, Erlina Burhan, Afid Brilliana Putra, Ihya Fakhrurizal Amin, Nadhif Wiratara

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: Tuberculous meningitis (TBM) is an infectious disease of the central nervous system that remains to be a global health challenge. Patients who survive after experiencing TBM have a risk of developing functional, cognitive and psychological disorders that can affect daily activities. The objective of this study is to present a comprehensive review of data on cognitive outcome after TBM infection.

Method: We conducted a systematic literature search to identify studies addressing cognitive outcomes in adult TBM patients. Following a systematic literature search (PubMed, Scopus, EBSCO), studies were reviewed by independent reviewers to assess eligibility for inclusion. Three …

Evaluation Of Body Mass Index (Bmi): A Risk Factor For Stroke Among Pakistani Youth, Shafaq Saleem, Safia Awan, Ibrar Rafique, Kashif Hafeez

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: Body Mass Index (BMI) has been recognized as a significant risk factor for stroke, especially among younger populations in South Asia. Rising obesity rates contribute to non-communicable diseases, with increased stroke incidences being observed in younger adults. The objective of this study was to assess BMI distribution among Pakistani youth across various educational levels, providing insight into obesity trends and potential health risks.

Methods: This cross-sectional study was conducted through an online platform, surveying 2,223 respondents across 38 cities in Pakistan. A semi-structured questionnaire was administered, covering 600 educational institutions. Participants were categorized by BMI using WHO …

Thyroid Cartilage Metastases From Prostate Cancer On 18f Psma Pet Ct: A Case Series, Poonamjeet Loyal, Samuel Gitau, Khalid Makhdomi

Imaging & Diagnostic Radiology, East Africa

Prostate cancer metastases to the thyroid cartilage is an extremely rare phenomenon. We report three cases of advanced prostate carcinoma with metastases to the thyroid cartilage identified on 18F prostate-specific membrane antigen-1007 (PSMA-1007) positron emission tomography (PET)/computed tomography (CT). The pathophysiology and possibility for under-reporting are also discussed. Prostate cancer metastases to the larynx should be considered in the differential diagnosis of thyroid cartilage lesions in patients with advanced prostate cancer and is associated with poor prognosis.

Displacement Of Hospital-Acquired, Methicillin-Resistant Staphylococcus Aureus Clones By Heterogeneous Community Strains In Kenya Over A 13-Year Period, Justin Nyasinga, Zubair Munshi, Collins Kigen, Andrew Nyerere, Lillian Musila, Andrew Whitelaw, Wilma Ziebuhr, Gunturu Revathi

Pathology, East Africa

We determined antibiotic susceptibility and employed Oxford Nanopore whole-genome sequencing to explore strain diversity, resistance, and virulence gene carriage among methicillin-resistant Staphylococcus aureus (MRSA) strains from different infection sites and timepoints in a tertiary Kenyan hospital. Ninety-six nonduplicate clinical isolates recovered between 2010 and 2023, identified and tested for antibiotic susceptibility on the VITEK ID/AST platform, were sequenced. Molecular typing, antibiotic resistance, and virulence determinant screening were performed using the relevant bioinformatics tools. The strains, alongside those from previous studies, were stratified into two periods covering 2010–2017 and 2018–2023 and comparisons were made. Mirroring phenotypic profiles, aac(6′)-aph(2″) [aminoglycosides]; gyrA (S84L) …

Reducing The Burden Of Diabetes Mellitus: Is It Achievable?, Rafay Iqbal, Raheel Ahmad, Aisha Ambreen

Department of Family Medicine

Diabetes mellitus is rapidly on the rise globally, particularly in low- and middle-income countries. Pakistan has emerged with the highest prevalence of diabetes by percentage according to recent estimates. Evidence is available for different strategies to reduce this burden. Screening high-risk individuals can reduce burden of undiagnosed diabetes and improve outcomes. Although prediabetes can progress to type 2 diabetes, it has the potential to regress to normoglycaemia as well. Interventions like lifestyle modifications and metformin in high-risk individuals can reduce the risk of progression to diabetes. Furthermore, there is a potential to reverse diabetes in some individuals in the early …

Development Of An Online Teaching Platform To Improve Access To Postgraduate Pathology Training In Sub-Saharan Africa, Richard Byers, Anita Byers, Chibamba Mumba, Angela Mutuku, Jennifer Singer-Rupp, Michael Wilson, Kenneth Fleming, Shahin Sayed

Pathology, East Africa

Background: Resource barriers to the provision of accessible training in cancer diagnosis in lower- and middle-income countries (LMICs) limit the potential of African health systems. Long-term provision via teaching visits from senior pathologists and trainee foreign placements is unsustainable due to the prohibitive costs of travel and subsistence. Emerging eLearning methods would allow pathologists to be trained by experts in a cheaper, more efficient, and more scalable way.

Purpose: This study aimed to develop an online teaching platform, starting with hematopathology, for trainee pathologists in sub-Saharan Africa, initially in Nairobi, Kenya, and Lusaka, Zambia.

Methods: Course materials …

Maternal And Neonatal Outcome In Pregnant Women Undergone Induction Of Labor At Muhimbili National Hospital, Dar Es Salaam, Tanzania, Shweta Jaiswal, Willbroad Kyejo, Charles Kilewo

Family Medicine, East Africa

Introduction

Labor induction is a common obstetric intervention aimed at initiating labor when spontaneous onset is delayed or deemed necessary for maternal or fetal well-being. Despite its widespread use, the practice’s impact on maternal and neonatal outcomes remains a subject of ongoing research and debate. This study aims to evaluate the maternal and neonatal outcomes associated with labor induction in a tertiary hospital setting in Tanzania.

Methodology

A descriptive analytical cross-sectional study was conducted over a seven-month period from January 2021 to July 2021 at Muhimbili National Hospital in Dar es Salaam, Tanzania. A total of 120 pregnant women who …

Psychiatric Morbidity Among Patients On Treatment For Tuberculosis At A Tertiary Referral Hospital In Western Kenya, Robina Momanyi, Edith Kwobah, Philip Owiti, Henry Nyamogoba, Lukoye Atwoli

Internal Medicine, East Africa

Background Mental disorders account for nine percent of the overall global burden of disease and are among the top ten leading causes of disability. Mental illness and tuberculosis share risk factors including poverty, overcrowding, stigma, poor nutrition, substance use and retro-viral disease co-infection. Presence of mental illness in tuberculosis delays health-seeking, affects drug adherence, increases cost of treatment, prolongs disease duration, lowers quality of life, and increases mortality. Early diagnosis, linkage, and treatment of psychiatric morbidity among patients with tuberculosis would improve outcomes for both. This study thus aimed to determine the prevalence and factors associated with psychiatric morbidity among …

Establishing Kidney Transplantation In A Low-Income Country: A Case In Tanzania, Francis F. Furia, Jaqueline G. Shoo, Paschal Ruggajo, Jonathan W. Jonathan W. Mngumi, Valentine Valentine, Mahmoud A. Muhiddin, Kim Kim, Isaack Mlatie, Moses Mulungu, Namala Mkopi

Internal Medicine, East Africa

Background

Sub-Saharan African countries, including Tanzania, have a high burden of chronic kidney diseases (CKDs) and limited capacity for the provision of services. Tanzania and other countries in the region have made signifcant improvements in the provision of services for patients with CKD, including hemodialysis. Few countries are ofering kidney transplantation services, which is the defnitive treatment for patients with CKD and kidney failure. This study was conducted to review the steps taken by Muhimbili National Hospital (MNH) to establish a kidney transplantation service in Tanzania.

Methods

This study was based on the review of the activities that were undertaken …

A Mixed-Methods Study To Investigate Feasibility And Acceptability Of An Early Warning Score For Preterm Infants In Neonatal Units In Kenya: Results Of The News-K Study, Eleanor Mitchell, Jalemba Aluvaala, Lucy Bradshaw, Jane Daniels, Caren Emadau, Bernadine Muthumbi, Helen Nabwera, Ednah Ojee, Jacqueline Opira, Phoebe Pallotti

Centre of Excellence in Women and Child Health

Preterm birth (< 37 weeks gestation) complications are the leading cause of neonatal mortality. Early-warning scores (EWS) are charts where vital signs (e.g., temperature, heart rate, respiratory rate) are recorded, triggering action. To evaluate whether a neonatal EWS improves clinical outcomes in low-middle income countries, a randomised trial is needed. Determining whether the use of a neonatal EWS is feasible and acceptable in newborn units, is a prerequisite to conducting a trial. We implemented a neonatal EWS in three newborn units in Kenya. Staff were asked to record infants’ vital signs on the EWS during the study, triggering additional interventions as per existing local guidelines. No other aspects of care were altered. Feasibility criteria were pre-specified. We also interviewed health professionals (n = 28) and parents/family members (n = 42) to hear their opinions of the EWS. Data were collected on 465 preterm and/or low birthweight (< 2.5 kg) infants. In addition to qualitative study participants, 45 health professionals in participating hospitals also completed an online survey to share their views on the EWS. 94% of infants had the EWS completed at least once during their newborn unit admission. EWS completion was highest on the day of admission (93%). Completion rates were similar across shifts. 15% of vital signs triggered escalation to a more senior member of staff. Health professionals reported liking the EWS, though recognised the biggest barrier to implementation was poor staffing. Newborn unit infant to staff ratios varied between 10 and 53 staff per 1 infant, depending upon time of shift and staff type. A randomised trial of neonatal EWS in Kenya is possible and acceptable, though adaptations are required to the form before implementation.

Global Landscape Of The Attack Of Predatory Journals In Oncology, Khalid El Bairi, Dario Trapani, Sara Nidhamalddin, Shah Khan, Arman Chowdhury, Csongor Lengyel, Sadaqat Hussain, Baker Habeeb, Angelica Petrillo, Miriam Mutebi

General Surgery, East Africa

Purpose Open-access publishing expanded opportunities to give visibility to research results but was accompanied by the proliferation of predatory journals (PJos) that offer expedited publishing but potentially compromise the integrity of research and peer review. To our knowledge, to date, there is no comprehensive global study on the impact of PJos in the field of oncology.

Materials and Methods A 29 question-based cross-sectional survey was developed to explore knowledge and practices of predatory publishing and analyzed using descriptive statistics and binary logistic regression.

Results Four hundred and twenty-six complete responses to the survey were reported. Almost half of the responders …

Wcn24-931 Aki Phenotypes In Ugandan Children Hospitalized With Hypoxemia And Malaria, Andrea Conroy, Anthony Batte, Rodney Ogwang, Sophie Namasopo, Robert Opoka, Michael Hawkes

Paediatrics and Child Health, East Africa

Introduction: Acute kidney injury (AKI) is a frequent life-threatening complication in hospitalized children. Emerging data suggest AKI is a heterogeneous condition that varies based on the underlying cause and is composed of distinct phenotypes. The objective of this study was to define AKI phenotypes using proposed classification systems in Ugandan children hospitalized with hypoxemia and to evaluate differences in phenotypes by malaria infection.

Methods: Between 2019 and 2021, 2402 Ugandan children <5 years of age hospitalized with hypoxemia were enrolled in a cluster randomized trial of solar powered oxygen delivery across 20 districts in Uganda. At enrollment, urine NGAL was measured using a point-of-care lateral flow test with a positive test defined as a level ≥150ng/mL. Malaria was assessed using a threeband rapid diagnostic test. In an extended sub-study, 491 children had creatinine measured to define AKI. AKI was defined using a single creatinine measure at enrolment and phenotypically characterized using two acute dialysis quality initiative (ADQI) proposed AKI phenotypes. The AKI biomarker definition incorporated urine NGAL into the KDIGO definition[group 1, no AKI; group 2, subclinical AKI (biomarker positive); group 3, AKI; group 4, biomarker positive AKI]. The ADQI sepsis AKI phenotype groups stage 1 AKI as sepsis phenotype (SP)-1 irrespective of biomarker status and differentiates severe AKI (stage 2/3) based on biomarker positivity where severe AKI that is biomarker negative is (SP2) and severe biomarker positive AKI is SP3.

Results: Overall, 491 children were included in the extended study with AKI defined and uNGAL measured. The median age was 1.3 years (interquartile range, 0.7 to 2.3) and 53.8% …

Neurocognitive Impairment In Ugandan Children With Sickle Cell Anaemia Compared To Sibling Controls: A Cross-Sectional Study, Paul Bangirana, Amelia Boehme, Annet Birabwa, Robert Opoka, Deogratias Munube, Ezekiel Mupere, Phillip Kasirye, Grace Muwanguzi, Maxencia Musiimenta, George Ru

Paediatrics and Child Health, East Africa

Introduction: The neurocognitive functions in Ugandan children aged 1–12 years with sickle cell anemia (SCA) were compared to their non-SCA siblings to identify risk factors for disease-associated impairment.

Methods: This cross-sectional study of the neurocognitive functions in children with SCA (N = 242) and non-SCA siblings (N = 127) used age- and linguistically appropriate standardized tests of cognition, executive function, and attention for children ages 1–4 and 5–12. Test scores were converted to locally derived age-normalized z-scores. The SCA group underwent a standardized stroke examination for prior stroke and transcranial Doppler ultrasound to determine stroke risk by arterial …

Incidental Actinomycosis In A 44-Year-Old Female During Total Abdominal Hysterectomy For Abnormal Uterine Bleeding: A Case Report, Willbroad Kyejo, Ally Zain Ismail, Abduel Kitua, Gregory Ntiyakunze, Munawar Kaguta, Ally Mwawnga

Family Medicine, East Africa

Actinomycosis, a rare chronic bacterial infection caused by Actinomyces species, presents diagnostic challenges due to diverse clinical presentations. This report presents a case of peritoneal actinomycosis incidentally discovered during a total abdominal hysterectomy in a 44-year-old female with refractory abnormal uterine bleeding and a history of long-term intrauterine contraceptive device use. The patient presented with persistent abnormal uterine bleeding despite conservative management. Intraoperative findings during total abdominal hysterectomy revealed peritoneal involvement, prompting histopathological evaluation confirming actinomycosis. This case highlights diagnostic complexities associated with actinomycosis, emphasizing the significance of histopathological confirmation. Postoperative management with antibiotics demonstrated favorable outcomes, supporting their efficacy …

Time To Full Enteral Feeds In Hospitalised Preterm And Very Low Birth Weight Infants In Nigeria And Kenya, Zainab Imam, Helen Nabwera, Olukemi Tongo, Pauline Andang’O, Isa Abdulkadir, Chinyere Ezeaka, Beatrice Ezenwa, Iretiola Fajolu, Martha Mwangome, Dominic Umoru

Paediatrics and Child Health, East Africa

Background: Preterm (born < 37 weeks’ gestation) and very low birthweight (VLBW; <1.5kg) infants are at the greatest risk of morbidity and mortality within the first 28 days of life. Establishing full enteral feeds is a vital aspect of their clinical care. Evidence predominantly from high income countries shows that early and rapid advancement of feeds is safe and reduces length of hospital stay and adverse health outcomes. However, there are limited data on feeding practices and factors that influence the attainment of full enteral feeds among these vulnera- ble infants in sub-Saharan Africa.

Aim: To identify factors that influence the time to full enteral feeds, defined as tolerance of 120ml/ kg/day, in hospitalised preterm and VLBW infants in neonatal units in two sub-Saharan Afri- can countries.

Methods: Demographic and clinical variables were collected for newborns admitted to 7 neonatal units in Nigeria and Kenya over 6-months. Multiple linear regression analysis was conducted to identify factors independently associated with time to full enteral feeds.

Results: Of the 2280 newborn infants admitted, 484 were preterm and VLBW. Overall, 222/484 (45.8%) infants died with over half of the deaths (136/222; 61.7%) occurring before …

Kawasaki Disease In Kenya And Review Of The African Literature, Angela Migowa, Catherine Njeri, Edwin Were, Thomas Ngwiri, L Colmegna

Paediatrics and Child Health, East Africa

Background: Kawasaki disease has been described across the globe, although publications from Africa are limited. To our knowledge, there are no publications on Kawasaki disease from Kenya, which triggered this report.

Methods: A retrospective cross-sectional study was undertaken to identify in-patients with a discharge diagnosis of Kawasaki disease, over 2 different 5-year periods, at two pediatric hospitals in Nairobi, Kenya. We reviewed the medical records of all patients and report their clinical findings, diagnostic workup and treatment. In addition, we undertook a detailed review of the literature.

Results: Twenty-three patients with Kawasaki disease were identified, of those 12 (52.2%) had …

A Rare Case Of Biliary Atresia With Biliary Ascites On A (Hepatobiliary Iminodiacetic Acid) Hida Scan, Poonamjeet Loyal, Khalid Makhdomi, Samuel Gitau

Imaging & Diagnostic Radiology, East Africa

Biliary atresia is one of the most challenging conditions in pediatric surgery even when it is the only finding. Here we present a rare case of biliary atresia complicated with biliary ascites due to ductal perforation identified on a hepatobiliary iminodiacetic acid (HIDA) scan.

Wcn24-2067 Regional Differences In Acute Kidney Injury In Ugandan Children Hospitalized For Hypoxemia, Anthony Batte, Rodney Ogwang, Robert Opoka, Sophie Namasopo, Michael Hawkes, Andrea Conroy

Paediatrics and Child Health, East Africa

Introduction: Acute kidney injury (AKI) is associated with increased mortality in hospitalized patients and incidence is highest in resource limited settings. The objective of this study was to assess sub-National regional differences in the incidence of AKI in children <5 years of age hospitalized with an acute febrile illness and hypoxemia.

Methods: This was a secondary analysis of a stepped wedge cluster randomized controlled trial, which enrolled children <5 years of age hospitalized with hypoxemia between 2019 and 2021. At least one measure of kidney function was available in 1452 children. A single creatinine was measured at enrolment in a sub-set of 495 children with serum stored and AKI defined using KDIGO criteria where baseline creatinine was estimated using the age-based Pottel equation assuming a normal glomerular filtration rate of 120mL/min per 1.73m2. Markers were divided into structural (uNGAL positive, proteinuria, hematuria) or functional (AKI, saliva urea nitrogen (SUN)) measures of kidney injury.

Results: 1452 children were included in this AKI sub-study (Figure 1). The mean age of participants was 1.49 years (standard deviation (SD), 1.21) and 55.7% were male (809/1452). Overall 2.6% of children died (38/1452). The majority of participants enrolled were from the West (31.3%) …

The Impact Of Silver-Impregnated External Ventricular Catheter On The Rate Of Catheter-Related Infection At The Aga Khan University Hospital, Nairobi, Monica Adongo Nyikal

Master of Medicine in General Surgery

Background: 

External Ventricular Drain insertion has been practised at the Aga Khan University Hospital for more than 15 years, with the initial use of plain catheters. Subsequently between 2016 and 2017 the use of Silver-impregnated external ventricular catheters was adopted in the hospital with the aim of reducing external ventricular catheter-related infections. There is a need to assess the effect of the Silver-impregnated external ventricular drain (EVD).

Objectives: 

The primary objective of the study was to determine the difference in the incidence of EVD related infections between the plain EVD and Silver-impregnated EVD at AKUHN in the duration between the …

Use Of Mobile Technology To Identify Behavioral Mechanisms Linked To Mental Health Outcomes In Kenya: Protocol For Development And Validation Of A Predictive Model, Willie Njoroge, Rachel Maina, Frank Elena, Lukoye Atwoli, Anthony Ngugi, Srijan Sen, Stephen Wong, Linda Khakali, Andrew Aballa, James Orwa, Moses Nyongesa, Jasmit Shah, Amina Abubakar, Zul Merali

Brain and Mind Institute

Objective:This study proposes to identify and validate weighted sensor stream signatures that predict near-term risk of a major depressive episode and future mood among healthcare workers in Kenya.

Approach: The study will deploy a mobile application (app) platform and use novel data science analytic approaches (Artificial Intelligence and Machine Learning) to identifying predictors of mental health disorders among 500 randomly sampled healthcare workers from five healthcare facilities in Nairobi, Kenya.

Expectation: This study will lay the basis for creating agile and scalable systems for rapid diagnostics that could inform precise interventions for mitigating depression and ensure a healthy, resilient …

An Exploration Of The Genetics Of The Mutant Huntingtin (Mhtt) Gene In A Cohort Of Patients With Chorea From Different Ethnic Groups In Sub-Saharan Africa, Mendi J. Muthinja, Carlos Othon Guelngar, Maouly Fall, Fatumah Jama, Huda Aldeen Shuja, Jamila Nambafu, Daniel Gams Massi, Oluwadamilola Ojo, Juzar Hooker, Dilraj Sokhi

Internal Medicine, East Africa

Background: Africans are underrepresented in Huntington's disease (HD) research. A European ancestor was postulated to have introduced the mutant Huntingtin (mHtt) gene to the continent; however, recent work has shown the existence of a unique Htt haplotype in South-Africa specific to indigenous Africans.

Objective: We aimed to investigate the CAG trinucleotide repeats expansion in the Htt gene in a geographically diverse cohort of patients with chorea and unaffected controls from sub-Saharan Africa.

Methods: We evaluated 99 participants: 43 patients with chorea, 21 asymptomatic first-degree relatives of subjects with chorea, and 35 healthy controls for the presence of the mHtt. Participants …

Cross-Cultural Equivalence Of The Kessler Psychological Distress Scale (K10) Across Four African Countries In A Multi-National Study Of Adults, Amantia Ametaj, Christy Denckla, Anne Stevenson, Rocky Stroud, Jasmine Hall, Linnet Ongeri, Barkot Milkias, Jacob Hoffman, Lukoye Atwoli, Stella Gichuru

Internal Medicine, East Africa

The Kessler Psychological Distress Scale (K10) has been widely used to screen psychological distress across many countries. However, its performance has not been extensively studied in Africa. The present study sought to evaluate and compare measurement properties of the K10 across four African countries: Ethiopia, Kenya, Uganda, and South Africa. Our hypothesis is that the measure will show equivalence across all. Data are drawn from a neuropsychiatric genetic study among adult participants (N = 9179) from general medical settings in Ethiopia (n = 1928), Kenya (n = 2556), Uganda (n = 2104), and South Africa (n = 2591). A unidimensional …

Correlation Of Sonographic With Intraoperative Findings In Laparoscopic Managed Ectopic Pregnancies, A 10-Year Synopsis: A Retrospective Observational Study, Steve Mutiso

Obstetrics and Gynaecology, East Africa

Background: Ectopic pregnancies (EP) are a common pregnancy complication that's associated with significant morbidity and rarely mortality if not managed properly. Ultrasound examination forms the cornerstone of diagnosis of EP with some sonographic features occasionally not correlating with intraoperative findings. We set out to conduct an audit of EP managed surgically at our hospital for a 10-year period and discern the correlation and prediction of sonographic findings to intraoperative findings.

Methods: This study was designed as a Retrospective Observational Study based at the Aga Khan University Hospital (AKUH). Study population was all women admitted to AKUH with a diagnosis of …

Long-Term Health Related Quality Of Life Following Uterine Fibroid Embolization In A Predominantly Black African Population: A Retrospective Cohort Study, Michael Kioko, Marleen Temmerman, Timona Obura, Adelaide Lusambili

Obstetrics and Gynaecology, East Africa

Uterine Fibroid Embolization (UFE) is one of the effective options available for treatment of symptomatic uterine fibroids with documented improvement in the quality of life and reduction in symptoms. The study assessed long-term quality of life post-uterine fibroid embolization in a mostly black population, noting scanty local or African research on this topic despite evidence suggesting a higher fibroid burden among black women. This retrospective study examined patients who underwent UFE from 2009 to 2014. Participants completed online demographic and UFS-QOL surveys. Statistical tests included Wilcoxon signed rank tests for HRQOL score differences and Pearson correlation for associations between independent …

Prediction Of Cardiovascular Risk Factors From Retinal Fundus Photographs: Validation Of A Deep Learning Algorithm In A Prospective Non-Interventional Study In Kenya, Tom White, Viknesh Selvarajah, Fredrik Wolfhagen, Nils Svangård, Gayathri Mohankumar, Peter Fenici, Kathryn Rough, Nelson Onyango, Mansoor Saleh, Innocent Abayo

Haematology and Oncology, East Africa

Aim: Hypertension and diabetes mellitus (DM) are major causes of morbidity andmortality, with growing burdens in low-income countries where they are underdiag-nosed and undertreated. Advances in machine learning may provide opportunities toenhance diagnostics in settings with limited medical infrastructure.

Materials and Methods: A non-interventional study was conducted to develop andvalidate a machine learning algorithm to estimate cardiovascular clinical and labora-tory parameters. At two sites in Kenya, digital retinal fundus photographs were col-lected alongside blood pressure (BP), laboratory measures and medical history. Theperformance of machine learning models, originally trained using data from the UKBiobank, were evaluated for their ability to estimate …