Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome.

Next-generation phenotyping (NGP) can be used to compute the similarity of dysmorphic patients to known syndromic diseases. So far, the technology has been evaluated in variant prioritization and classification, providing evidence for pathogenicity if the phenotype matched with other patients with a confirmed molecular diagnosis. In a Nigerian cohort of individuals with facial dysmorphism, we used the NGP tool GestaltMatcher to screen portraits prior to genetic testing and subjected individuals with high similarity scores to exome sequencing (ES).

Advocacy at the Eighth World Congress of Pediatric Cardiology and Cardiac Surgery.

The (WCPCCS) will be held in Washington DC, USA, from Saturday, 26 August, 2023 to Friday, 1 September, 2023, inclusive. The will be the largest and most comprehensive scientific meeting dedicated to paediatric and congenital cardiac care ever held. At the time of the writing of this manuscript, has 5,037 registered attendees (and rising) from 117 countries, a truly diverse and international faculty of over 925 individuals from 89 countries, over 2,000 individual abstracts and poster presenters from 101 countries, and a Best Abstract Competition featuring 153 oral abstracts from 34 countries.

High blood pressure pattern amongst adolescents in Lagos, South West Nigeria.

Introduction: high blood pressure (HBP), once considered rare in adolescents is now a growing health problem. Usually asymptomatic in adolescents, if uncontrolled, can track into adulthood leading to various end-organ complications. In 2017, the American Academy of Pediatrics (AAP) published a new Clinical Practice Guideline (CPG) for screening and management of high blood pressure in children and adolescents to update the 2004 Fourth report.

Impact of the 2017 AAP clinical guideline on the prevalence of high blood pressure among adolescents in Lagos, Nigeria.

Introduction: Adolescent high blood pressure (HBP) can lead to several end-organ complications if it continues into adulthood. The 2017 AAP Guideline has lower blood pressure cut-off points and consequently leads to the identification of more people with high blood pressure. This study evaluated the impact of the 2017 American Academy of Pediatrics (AAP) Clinical Guideline on the prevalence of high blood pressure among adolescents when compared to the 2004 Fourth Report.

Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1.

Neurofibromatosis type 1 is an autosomal dominant multisystemic disease caused by mutation of the neurofibromin (NF1) gene located on chromosome 17q11. We report a case of Neurofibromatosis 1 with ambiguous genitalia, giant congenital melanocytic nevus, and associated subpulmonic outlet ventricular septal defect, hitherto unreported in sub-Saharan Africa. In addition, a literature review of congenital heart diseases associated with Neurofibromatosis 1 is presented.

Hajdu-Cheney syndrome with atypical cardiovascular abnormalities.

Hajdu-Cheney syndrome is an ultra-rare autosomal dominant disorder caused by a heterozygous variant in NOTCH2 gene. Characteristic features include osteolysis, distinct facial appearance, skull deformity, joint laxity, osteoporosis, and short stature. Associated abnormalities are congenital heart disease, congenital defects of the kidney, and neurological problems.

Coagulation abnormalities in children with uncorrected congenital heart defects seen at a teaching hospital in a developing country.

Background: Coagulation abnormality is a significant complication and cause of mortality in children with uncorrected congenital heart defects (CHD). The aim of this study was to determine the prevalence of coagulation abnormalities and the associated factors in children with uncorrected CHD.

Method: A cross sectional study conducted to determine the prevalence of coagulation abnormalities among 70 children with uncorrected CHD aged six months to 17 years and 70 age and sex matched apparently healthy controls.

Clinical presentation and short-term outcomes of multisystemic inflammatory syndrome in children in Lagos, Nigeria during the COVID-19 pandemic: A case series.

Background: Multisystemic inflammatory syndrome in children (MIS-C) has increasingly been documented globally with the progression of the COVID-19 pandemic and a significant proportion of cases have been noted in children of Black descent. There has been a noticeable discrepancy in the presentation and outcomes of COVID-19 infection in sub-Saharan Africa compared to the rest of the world. We documented the demography, clinical features, laboratory and imaging findings, therapeutic management, and short-term outcomes of paediatric patients with MIS-C diagnosed during the COVID-19 pandemic in Lagos, Nigeria.

Congenital heart defects in orofacial cleft: A prospective cohort study.

Background: Congenital heart defects (CHDs) are one of the most common associated anomalies in patients with an orofacial cleft (OFC). However, few studies have shown the association between cleft type and CHDs in our population. This study aimed to assess the prevalence of CHDs in a cohort of OFC patients at a tertiary health facility in Nigeria, as well as assess the risk of CHD by OFC type.

Electrocardiographic pattern of apparently healthy African adolescent athletes in Nigeria.

Background: Strategies to prevent sudden cardiac death (SCD) among young athletes have become topical worldwide and unrecognized cardiac pathology has been identified as a leading cause. Black ethnicity has been reported as an independent predictor of abnormal electrocardiography (ECG) findings among athletes and the frequency and significance of training-related ECG findings versus findings suggestive of an underlying pathology in the young African athletes is crucial.

Methods: This cross sectional study aimed to determine the prevalence and distribution of ECG patterns in young athletes and controls.

Rubinstein-Taybi syndrome in diverse populations.

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations.

Congenital heart disease in school children in Lagos, Nigeria: Prevalence and the diagnostic gap.

Congenital heart disease (CHD) in low-and-middle income countries (LMIC) is often characterized by late presentation resulting from inadequate screening and healthcare access in these regions. Accurate estimates of the burden of CHD among school children are often lacking. The objective of this study was to determine the prevalence and distribution of CHD among school children in two communities (urban and semi-urban) in south western Nigeria.

Turner syndrome in diverse populations.

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed.

Tuberous sclerosis in a patient from Nigeria.

Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome characterized by mostly benign tumors of the brain, skin, heart, kidney, and eye. Aberrations in the genes TSC1 and TSC2 which encode hamartin and tuberin, respectively, cause TSC. Because disease manifestations develop over time, early diagnosis and intervention are imperative for patients.

Echocardiographic screening of 4107 Nigerian school children for rheumatic heart disease.

Objective: Echocardiographic screening for Rheumatic Heart Disease (RHD) in Africa has revealed prevalence rates in the range of 0.5-7.4%.

Nutritional Assessment and Maternal Perception of Toddler Body Size using Toddler Silhouette Scale in Nigeria a Developing Country.

Background And Objectives: The toddler silhouettes scales have been validated in the caucascian population in developing countries but in the African population, the use of these scales is yet to be evaluated. The aim of this study was to determine the perception of mothers on the body size of toddlers using a validated scale in an African population.

Methods: This was a cross sectional study of 241 mothers and their toddlers.

Clinical epidemiology of congenital heart disease in Nigerian children, 2012-2017.

Background: Congenital heart diseases (CHDs) affect ~1% of newborns and are a significant cause of morbidity and mortality in children. We present the clinical epidemiology of CHD as seen in a large university medical center in Nigeria.

Methods: Participants were 767 children with echocardiographically confirmed CHD seen over a 5-year period at the Lagos University Teaching Hospital, Nigeria.

Medical genetics and genomic medicine in Nigeria.

Medical genetics and genomic medicine in Nigeria. [Image: see text]

Pre- and Post-ductal oxygen saturation among apparently healthy low birth weight neonates.

Introduction: Reference values of oxygen saturation (SpO2) to guide care of low birth weight neonates have been obtained mainly from Caucasians. Data from African newborns are lacking. To determine the pre- and post-ductal SpO2values of low birth weight neonates within the first 72 h of life, compare SpO2values of moderate-late preterm and term low birth weight neonates and determine how mode of delivery affected SpO2in the first 24 h of life.

Congenital Heart Defects in Nigerian Children: Preliminary Data From the National Pediatric Cardiac Registry.

Background: Congenital heart defects (CHDs) are common birth defects with significant impact on morbidity and mortality. We aimed to compare regional patterns of CHDs in Nigeria using a registry-based approach.

Methods: Children with echocardiography-confirmed CHDs at 17 medical centers across the country were enrolled in a pilot National Pediatric Cardiac Registry from January to December 2014.

Pulmonary hypertension among 5 to 18 year old children with sickle cell anaemia in Nigeria.

Background: Pulmonary hypertension (PHT) is a significant cause of mortality in patients with sickle cell disease (SCD). Few studies on PHT in SCD have been carried out in children. This study aimed to estimate the prevalence of PHT in children with sickle cell anaemia (SCA) and determine its clinical and laboratory correlates.

Noonan syndrome in diverse populations.

Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology.