scholarly journals A Case of William’s Syndrome in a Ugandan Child: A Feasible Diagnosis Even in a Low-Resource Setting

Children ◽  
2021 ◽  
Vol 8 (12) ◽  
pp. 1192
Author(s):  
Massimo Mapelli ◽  
Paola Zagni ◽  
Valeria Calbi ◽  
Aliku Twalib ◽  
Roberto Ferrara ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Pulmonary Stenosis ◽  
Sub Saharan Africa ◽  
Resource Setting ◽  
Low Resource Setting ◽  
Sub Saharan ◽  
Valvular Pulmonary Stenosis ◽  
And Function ◽  
Behavior Profile ◽  
And Behavior

Background: Williams–Beuren syndrome (WS) is a rare, complex, congenital developmental disorder including cardiovascular manifestations, intellectual disability and a peculiar cognitive and behavior profile. Supravalvular aortic stenosis (SVAS) is the most frequent cardiovascular abnormality in WS children. Data on WS patients in sub-Saharan Africa are scarce. A genetic study is usually required for a definite diagnosis, but genetic testing is often unavailable in developing countries and the combination of a typical clinical phenotype and echocardiographic profile helps to confirm the diagnosis. Case Report: We report the case of a 5-year-old Ugandan child admitted to a large no profit hospital after he was initially managed as a case of infective endocarditis. A physical examination revealed the typical features of WS. A cardiac echo showed severe SVAS (peak gradient 80 mmHg) with a normal anatomy and function of the aortic valve and mild valvular pulmonary stenosis. The child also had a moderate intellectual disability and a characteristic facies consistent with WS. Conclusion: We present the first reported case of WS in Uganda. Cardiac echo and a characteristic clinical picture could be enough to exclude more common causes of heart failure (i.e., rheumatic heart disease) and to make the diagnosis even when specific genetic tests are not available.

scholarly journals Humanitarian Surgical Missions in Times of COVID-19: Recommendations to Safely Return to a Sub-Saharan Africa Low-Resource Setting

2021 ◽  
Author(s):  
Víctor Lopez-Lopez ◽  
Ana Morales ◽  
Elisa García-Vazquez ◽  
Miguel González ◽  
Quiteria Hernandez ◽  
...  
Keyword(s):  
Sub Saharan Africa ◽  
Low Resource ◽  
Resource Setting ◽  
Low Resource Setting ◽  
Sub Saharan

Factors associated with high-risk HPV positivity in a low-resource setting in sub-Saharan Africa

2014 ◽  
Vol 210 (1) ◽  
pp. 81.e1-81.e7 ◽  
Author(s):  
Sheona M. Mitchell ◽  
Musa Sekikubo ◽  
Christine Biryabarema ◽  
Josaphat J.K. Byamugisha ◽  
Malcolm Steinberg ◽  
...  
Keyword(s):  
High Risk ◽  
Sub Saharan Africa ◽  
Factors Associated ◽  
Low Resource ◽  
Resource Setting ◽  
Low Resource Setting ◽  
Sub Saharan ◽  
High Risk Hpv

scholarly journals Calibration of the Epilepsy Questionnaire for Use in a Low-Resource Setting

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Joseph O. Yaria ◽  
Adesola Ogunniyi
Keyword(s):  
Health Sector ◽  
Sub Saharan Africa ◽  
Health Providers ◽  
Good Test ◽  
Retest Reliability ◽  
Low Resource ◽  
Resource Setting ◽  
Low Resource Setting ◽  
Sub Saharan ◽  
Test Retest Reliability

Background. Burden of epilepsy in sub-Saharan Africa is huge in the midst of shortage of human resource in its health sector. Using skilled staff to supervise and support lower level healthcare workers providing frontline primary healthcare is a pragmatic coping solution. But, lower level health providers face enormous challenges due to absent clinical algorithms or pragmatic rapid diagnostic tests. Objective. This study aimed to determine if the use of an epilepsy questionnaire in a traditional clinical setting would improve semiological details obtained and diagnostic accuracy. Methods. A prospective study was conducted involving patients diagnosed with epilepsy each with an eye witness who had regularly witnessed the seizures. Routine seizure history from clinical documentation and an interviewer-based questionnaire were compared. The data obtained were assessed for content, accuracy, intermethod and test-retest reliability. Results. Sixty-seven patients with a median age of 24 years were recruited. Routine seizure history had obtained less semiological details with inadequate description of nonmotor manifestations and lateralizing motor details. The questionnaire-obtained history showed higher accuracy for generalized onset seizure (0.83 vs. 0.56) and focal onset seizures (0.79 vs. 0.59). The questionnaire-obtained history also had good test-retest reliability for various semiological domains except automatisms. Conclusions. Routine seizure histories are not standardized. The use of a questionnaire goes a long way in improving semiology description in a low-resource setting and guides the health provider on what details to focus on. The use of epilepsy questionnaires should, therefore, be considered to improve semiology, especially in nonspecialist settings.

scholarly journals A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
M. C. J. Dekker ◽  
A. M. Sadiq ◽  
R. Mc Larty ◽  
R. M. Mbwasi ◽  
M. A. A. P. Willemsen ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Clinical History ◽  
Sub Saharan Africa ◽  
Adrenal Failure ◽  
Low Resource ◽  
Radiological Features ◽  
Resource Setting ◽  
Low Resource Setting ◽  
Sub Saharan ◽  
Resource Environment

Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from Africa. In a boy with features of a progressive central nervous system condition and adrenal failure, ABCD1 gene screening was performed based on a clinical history and basic radiological features which were compatible with ALD. A common ABCD1 mutation was identified in this patient, which is the first report of genetically confirmed ALD in Sub-Saharan Africa. ALD is likely under recognised in those areas where there is no neurologist. This genetic confirmation widens geographical distribution of ABCD1-associated disease, and illustrates recognisability of this disorder, even when encountered in a low-resource environment.

scholarly journals Early cranial ultrasound findings among infants with neonatal encephalopathy in Uganda: an observational study

2016 ◽  
Vol 80 (2) ◽  
pp. 190-196 ◽  
Author(s):  
Cally J. Tann ◽  
Margaret Nakakeeto ◽  
Cornelia Hagmann ◽  
Emily L. Webb ◽  
Natasha Nyombi ◽  
...  
Keyword(s):  
Brain Injury ◽  
Case Fatality ◽  
Sub Saharan Africa ◽  
White Matter Injury ◽  
Cranial Ultrasound ◽  
Neonatal Encephalopathy ◽  
Term Infants ◽  
Resource Setting ◽  
Low Resource Setting ◽  
Sub Saharan

Abstract Background: In sub-Saharan Africa, the timing and nature of brain injury and their relation to mortality in neonatal encephalopathy (NE) are unknown. We evaluated cranial ultrasound (cUS) scans from term Ugandan infants with and without NE for evidence of brain injury. Methods: Infants were recruited from a national referral hospital in Kampala. Cases (184) had NE and controls (100) were systematically selected unaffected term infants. All had cUS scans <36 h reported blind to NE status. Results: Scans were performed at median age 11.5 (interquartile range (IQR): 5.2–20.2) and 8.4 (IQR: 3.6–13.5) hours, in cases and controls respectively. None had established antepartum injury. Major evolving injury was reported in 21.2% of the cases vs. 1.0% controls (P < 0.001). White matter injury was not significantly associated with bacteremia in encephalopathic infants (odds ratios (OR): 3.06 (95% confidence interval (CI): 0.98–9.60). Major cUS abnormality significantly increased the risk of neonatal death (case fatality 53.9% with brain injury vs. 25.9% without; OR: 3.34 (95% CI: 1.61–6.95)). Conclusion: In this low-resource setting, there was no evidence of established antepartum insult, but a high proportion of encephalopathic infants had evidence of major recent and evolving brain injury on early cUS imaging, suggesting prolonged or severe acute exposure to hypoxia–ischemia (HI). Early abnormalities were a significant predictor of death.

scholarly journals Reversible deafness and blindness in a patient with cryptococcal meningitis in Tanzania

2015 ◽  
Vol 7 (4) ◽  
Author(s):  
Matt Douglas-Vail ◽  
Taylor Bechamp ◽  
Simran Gohal ◽  
Robert Soegtrop ◽  
Sarah Vitali ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Hearing Loss ◽  
Cryptococcal Meningitis ◽  
Sub Saharan Africa ◽  
Cerebrospinal Fluid Drainage ◽  
Raised Intracranial Pressure ◽  
Low Resource ◽  
Resource Setting ◽  
Low Resource Setting ◽  
Sub Saharan

Cryptococcal meningitis is a common and devastating complication of advanced HIV, and is most prevalent in low resource settings in sub Saharan Africa. Raised intracranial pressure is one of the hallmarks of the disease, which can lead to visual and hearing loss and ultimately death. We present the case of a patient with visual and hearing impairment secondary to Cryptococcal meningitis successfully managed by serial cerebrospinal fluid drainage. This case highlights some of the challenges of managing this severe opportunistic infection in a low resource setting.

scholarly journals A comparison of the efficacy of microscopy versus rapid diagnostic testing in sub-Saharan Africa

2014 ◽  
Vol 83 (2) ◽  
pp. 10-12
Author(s):  
Lauren Prufer
Keyword(s):  
Diagnostic Testing ◽  
Sub Saharan Africa ◽  
Rapid Diagnostic Testing ◽  
Low Resource ◽  
Resource Setting ◽  
Appropriate Treatment ◽  
Low Resource Setting ◽  
Sub Saharan ◽  
Treatment And Diagnosis

Despite advances in treatment and diagnosis, malaria continues to cause a significant number of deaths, particularly in African children.1 Optimized diagnostic and follow-up testing is required for appropriate treatment and eventual eradication of malarial disease in sub-Saharan Africa. Microscopy is compared to rapid diagnostic testing (RDT) for use in a low-resource setting.

scholarly journals CONTINENTAL MUSICOLOGY: DECOLONISING THE MYTH OF A SINGULAR “AFRICAN MUSIC”

2018 ◽  
Vol 10 (4) ◽  
pp. 177-193
Author(s):  
Thomas Mathew Pooley
Keyword(s):  
Sub Saharan Africa ◽  
Power Dynamics ◽  
Musical Structure ◽  
African Music ◽  
Popular Imagination ◽  
Ideal Types ◽  
Musical Identity ◽  
The North ◽  
Sub Saharan ◽  
And Function

The musical identity of the African continent is sustained in the popular imagination by the idea of its unity. This identity emerges from a constellation of ideas about Africa’s distinctiveness constructed by generations of scholars who have diminished its diversity to substantiate the claim that shared principles of musical structure and function in sub-Saharan cultures can be read as ideal types for the continent as a whole. The idea of a singular “African music” is predicated on the notion that African “traditional” music of precolonial origin in sub-Saharan Africa possesses a set of distinctive features that are essential to its identity. Musical cultures as diverse as Aka, Ewe, Shona, Yoruba, and Zulu are subsumed within a singular frame of reference; others that do not possess these features are, by implication, excluded. To make sense of this myth of a singular “African music” we must reckon with the universalising impulse that sustains it. This means interrogating the discursive formations out of which it has been fashioned. Whose interests does it serve? Taking a decolonial perspective on the power dynamics that structure global south-north relations in the academy, this article points to the ways in which the north perpetuates its authority and dominance over the south by subsuming others within its cultural and intellectual ambit. Decolonising “African music” means dismantling the hegemony of “continental musicology” and the myth of a singular “African music” that is its creation.

Feasibility and acceptability of frequent vaginal self-sampling at home by Rwandan women at high risk of urogenital tract infections

2021 ◽  
pp. sextrans-2020-054816
Author(s):  
Marijn C Verwijs ◽  
Stephen Agaba ◽  
Marie-Michele Umulisa ◽  
Janneke H H M van de Wijgert
Keyword(s):  
Group Discussion ◽  
Amplicon Sequencing ◽  
Randomised Clinical Trial ◽  
Sub Saharan Africa ◽  
16S Rrna Amplicon Sequencing ◽  
Resource Setting ◽  
Vaginal Swabs ◽  
Sub Saharan ◽  
Tract Infections ◽  
At Home

ObjectivesTo establish temporal links between vaginal microbiota (VMB) data and incident clinical events, frequent longitudinal vaginal sampling is required. Self-collection of swabs at the participant’s home may be useful to avoid overburdening research clinics and participants. One-off vaginal self-sampling for STI or cervical cancer screening programmes has been shown to be feasible and acceptable to women in multiple studies, including in sub-Saharan Africa, but the feasibility and acceptability of frequent longitudinal vaginal sampling in the context of VMB sequencing studies is unknown.MethodsTwelve participants of a randomised clinical trial in Kigali, Rwanda, self-collected vaginal swabs three times a week for a month. We studied feasibility by comparing DNA concentrations, proportions of samples with >1000 16S rRNA amplicon sequencing reads and VMB composition outcomes of self-collected swabs with clinician-collected swabs. We evaluated the acceptability of self-collection using structured face-to-face interviews and a focus group discussion.ResultsThe participants collected vaginal swabs at 131 different time points. One woman stopped self-sampling after one try due to a social harm. All self-sampled swabs generated >1000 rRNA amplicon sequencing reads, and the DNA concentration of self-sampled swabs and clinician-sampled swabs did not differ significantly (Kruskal-Wallis p=0.484). Self-sampled and clinician-sampled swabs generated similar VMB composition data. Participants reported feeling very comfortable during self-sampling (11/12; 91.7%) and that self-sampling had become easier over time (12/12; 100%). They mentioned reduced travel time and travel costs as advantages of self-sampling at home.ConclusionsFrequent longitudinal vaginal sampling at home is feasible and acceptable to participants, even in the context of a low-resource setting, as long as adequate counselling is provided.Trial registration numberNCT02459665.

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