Pattern of congenital heart diseases in Rwandan children with genetic defects

Introduction: Congenital heart diseases (CHD) are commonly associated with genetic defects. Our study  aimed at determining the occurrence and pattern of CHD association with genetic defects among pediatric  patients in Rwanda.Methods: A total of 125 patients with clinical features suggestive of genetic defects were recruited. Echocardiography and standard karyotype studies were performed in all patients.Results: CHDs were detected in the majority of patients with genetic defects. The commonest isolated CHD was ventricular septal defect found in many cases of Down syndrome. In total, chromosomal abnormalities represented the majority of cases in our cohort and were associated with various types of CHDs.Conclusion: Our findings showed that CHDs are common in Rwandan pediatric patients with genetic defects. These results suggest that a routine echocardiography assessment combined with systematic genetic  investigations including standard karyotype should be mandatory in patients presenting characteristic clinical features in whom CHD is suspected to be associated with genetic defect.Key words: Congenital heart disease, genetic defects, pediatric patients, Rwand

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

International audienc

Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.

Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.

BACKGROUND: Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa. METHODS: Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent's 180 K microarray platform. RESULTS: Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances. CONCLUSION: This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries

Pattern of congenital heart diseases in Rwandan children with genetic defects.

peer reviewedINTRODUCTION: Congenital heart diseases (CHD) are commonly associated with genetic defects. Our study aimed at determining the occurrence and pattern of CHD association with genetic defects among pediatric patients in Rwanda. METHODS: A total of 125 patients with clinical features suggestive of genetic defects were recruited. Echocardiography and standard karyotype studies were performed in all patients. RESULTS: CHDs were detected in the majority of patients with genetic defects. The commonest isolated CHD was ventricular septal defect found in many cases of Down syndrome. In total, chromosomal abnormalities represented the majority of cases in our cohort and were associated with various types of CHDs. CONCLUSION: Our findings showed that CHDs are common in Rwandan pediatric patients with genetic defects. These results suggest that a routine echocardiography assessment combined with systematic genetic investigations including standard karyotype should be mandatory in patients presenting characteristic clinical features in whom CHD is suspected to be associated with genetic defect

High Prevalence of Cysticercosis in People with Epilepsy in Southern Rwanda

<div><p>Background</p><p>Neurocysticercosis (NCC), the central nervous system infection by <i>Taenia solium</i> larvae, is a preventable and treatable cause of epilepsy. In Sub-Saharan Africa, the role of NCC in epilepsy differs geographically and, overall, is poorly defined. We aimed at contributing specific, first data for Rwanda, assessing factors associated with NCC, and evaluating a real-time PCR assay to diagnose NCC in cerebrospinal fluid (CSF).</p><p>Methodology/Principal findings</p><p>At three healthcare facilities in southern Rwanda, 215 people with epilepsy (PWE) and 51 controls were clinically examined, interviewed, and tested by immunoblot for cysticerci-specific serum antibodies. Additionally, CSF samples from PWE were tested for anticysticercal antibodies by ELISA and for parasite DNA by PCR. Cranial computer tomography (CT) scans were available for 12.1% of PWE with additional symptoms suggestive of NCC. The Del Brutto criteria were applied for NCC diagnosis. Cysticerci-specific serum antibodies were found in 21.8% of PWE and 4% of controls (odds ratio (OR), 6.69; 95% confidence interval (95%CI), 1.6–58.7). Seropositivity was associated with age and lack of safe drinking water. Fifty (23.3%) PWE were considered NCC cases (definitive, based on CT scans, 7.4%; probable, mainly based on positive immunoblots, 15.8%). In CSF samples from NCC cases, anticysticercal antibodies were detected in 10% (definitive cases, 25%) and parasite DNA in 16% (definitive cases, 44%). Immunoblot-positive PWE were older (medians, 30 <i>vs.</i> 22 years), more frequently had late-onset epilepsy (at age >25 years; 43.5% <i>vs.</i> 8.5%; OR, 8.30; 95%CI, 3.5–20.0), and suffered from significantly fewer episodes of seizures in the preceding six months than immunoblot-negative PWE.</p><p>Conclusions/Significance</p><p>NCC is present and contributes to epilepsy in southern Rwanda. Systematic investigations into porcine and human cysticercosis as well as health education and hygiene measures for <i>T. solium</i> control are needed. PCR might provide an additional, highly specific tool in NCC diagnosis.</p></div

Odds ratios and adjusted odds ratios (95% confidence intervals) for a positive immunoblot result in PWE.

a<p>, data are medians (range) for age and proportions (%, n/n) among PWE with and without a positive immunoblot;</p>b<p>, adjusted odds ratios originate from a logistic regression model including all shown variables, n = 211, correlation coefficient R² = 0.17.</p

Diagnostic data for all PWE with NCC according to the Del Brutto criteria.

‡<p>cystic lesion without scolex, single or multiple ring or nodular enhancing lesion, or parenchymal round calcification <a href="http://www.plosntds.org/article/info:doi/10.1371/journal.pntd.0002558#pntd.0002558-DelBrutto2" target="_blank">[14]</a>, details given in <a href="http://www.plosntds.org/article/info:doi/10.1371/journal.pntd.0002558#pntd.0002558.s002" target="_blank">Table S1</a>.</p>(+)*<p>, positive only with the maximum CSF volume (1.2–1.8 ml).</p>#<p>only 0.2 ml CSF for one PCR available.</p><p>n.a., no serum sample available.</p