American Journal of Medical Genetics, Jun 14, 2023
Neurofibromatosis type 1 is an autosomal dominant multisystemic disease caused by mutation of the... more 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.
IntroductionAdolescent high blood pressure (HBP) can lead to several end-organ complications if i... more IntroductionAdolescent 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.MethodologyA descriptive cross-sectional study was conducted from August 2020 to December 2020. The selection of 1,490 students, 10–19 years old, was by a two-stage sampling technique. Socio-demographic information and relevant clinical data were obtained using a structured questionnaire. Blood pressure was measured according to standard protocol. Categorical and numerical variables were summarized using frequency, percentages, mean, and standard deviation. The McNemar-Bowker test of symmetry was used to compare the bl...
Small airways diseases are not uncommon in childhood. They account for about 28.4% of hospital ad... more Small airways diseases are not uncommon in childhood. They account for about 28.4% of hospital admissions for lower respiratory tract infections in South West Nigeria, most of which are due to respiratory syncytial virus (RSV) infection. Noninfectious causes of small airways diseases, on the other hand, are poorly recognized and rarely feature in the differential diagnoses of chronic/recurrent lower respiratory tract disease in our environment. We present a case of follicular bronchiolitis in a 2.5-year-old Nigerian female who had left upper lobectomy on account of recurrent cough and progressive shortness of breath.
International Journal of Diabetes in Developing Countries, 2013
The influence of disease duration and glycemic control on cardiac function in type 1 diabetes mel... more The influence of disease duration and glycemic control on cardiac function in type 1 diabetes mellitus (T1DM) patients remains controversial. There is little data on young patients in the Sub-Saharan continent. The aim of this study was to determine the effect of disease duration and glycemic control on the cardiac function of children and adolescents with diabetes using echocardiography. In this cross sectional study, 26 T1DM subjects and 33 matched controls had conventional echocardiography done. The relationship between their cardiac parameters, disease duration and glycated hemoglobin (HbA1c) level was assessed with correlation and regression analysis. Five (19.2 %) subjects had evidence of abnormal fractional shortening. There was no significant difference in systolic function between the diabetics and controls. The isovolumic relaxation time and Deceleration time were significantly prolonged in the diabetics (P=0.034, P=0.001 respectively). There was a significant correlation between disease duration and end diastolic diameter (EDD) (P=0.000) and Left ventricular mass (P=0.000). Disease duration was also an independent predictor of EDD (P=0.007), even after adjusting for age, body mass index and mean arterial pressure. There were no significant correlations between HbA1c and measures of cardiac structure or function. The right ventricular diastolic function was poorer in the T1DM subjects compared to the controls. Thus, the disease duration independently predicts left ventricular enlargement in this population of Sub-Saharan youths (who have relatively poor glycemic control).
American journal of medical genetics. Part A, 2017
Down syndrome is the most common cause of cognitive impairment and presents clinically with unive... more Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD = 6.6 years). Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P < 0.001, P < 0.001, P < 0.001,…
Background Childhood obesity and associated hypertension are major public health concerns globall... more Background Childhood obesity and associated hypertension are major public health concerns globally. This study aimed to determine the prevalence of obesity and the associated risk of high blood pressure among Nigerian adolescents. Methods A cross-sectional school-based study of 885 apparently healthy adolescents was performed. Weight, height and blood pressure (BP) were measured using standard methods. Body mass index (BMI) was calculated and categorized by age, sex and percentile. Obesity and overweight were defined as: ≥ 95th and 85th to < 95th percentiles, respectively, for age, sex and height. Subjects were sub-categorized into age 10–13 years (A) and 14–17 years (B). The odds ratio for pre-hypertensive and hypertensive range BP by age and BMI were generated. Significance was set at P
Paediatric cardiac services in Nigeria have been perceived to be inadequate but no formal documen... more Paediatric cardiac services in Nigeria have been perceived to be inadequate but no formal documentation of availability and distribution of facilities and services has been done. To evaluate and document the currently available paediatric cardiac services in Nigeria. In this questionnaire-based, cross-sectional descriptive study, an audit was undertaken from January 2010 to December 2014, of the personnel and infrastructure, with their distributions according to geopolitical zones of Nigeria. Forty-eight centres participated in the study, with 33 paediatric cardiologists and 31 cardiac surgeons. Echocardiography, electrocardiography and pulse oximetry were available in 45 (93.8%) centres while paediatric intensive care units were in 23 (47.9%). Open-heart surgery was performed in six (12.5%) centres. South-West zone had the majority of centres (20; 41.7%). Available paediatric cardiac services in Nigeria are grossly inadequate and poorly distributed. Efforts should be intensified to...
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 2015
Little is known about cardiac surgery-associated acute kidney injury (CS-AKI) in children in deve... more Little is known about cardiac surgery-associated acute kidney injury (CS-AKI) in children in developing regions of the world. The study aimed to determine the prevalence of CSAKI, associated factors and its impact on mortality and utilization of hospital services. The hospital records of children aged 0-17 years who underwent CS at an Indian hospital were reviewed. CS-AKI was defined as a rise in serum creatinine of ≥0.3 mg/dL in any 48 h and or by urine output <0.5 mL/kg/h for an 8-h period in the first five days after CS. The study included 323 children with a median age of one year (0.04-17), of whom 22 (6.8%) were neonates and 18.3% had a single ventricle. About 60% of the children had Risk Adjusted Congenital Heart Surgery-I category 1 or 2 interventions. CS-AKI occurred in 39 children (12.1%). Factors associated with CS-AKI were sepsis and intraand post-operative hypotension. In-hospital mortality was six-fold higher in children who developed CS-AKI. CS-AKI was associated w...
Paediatric cardiac services in Nigeria have been perceived to be inadequate but no formal documen... more Paediatric cardiac services in Nigeria have been perceived to be inadequate but no formal documentation of availability and distribution of facilities and services has been done. To evaluate and document the currently available paediatric cardiac services in Nigeria. In this questionnaire-based, cross-sectional descriptive study, an audit was undertaken from January 2010 to December 2014, of the personnel and infrastructure, with their distributions according to geopolitical zones of Nigeria. Forty-eight centres participated in the study, with 33 paediatric cardiologists and 31 cardiac surgeons. Echocardiography, electrocardiography and pulse oximetry were available in 45 (93.8%) centres while paediatric intensive care units were in 23 (47.9%). Open-heart surgery was performed in six (12.5%) centres. South-West zone had the majority of centres (20; 41.7%). Available paediatric cardiac services in Nigeria are grossly inadequate and poorly distributed. Efforts should be intensified to...
Reference values of oxygen saturation (SpO2) to guide care of low birth weight neonates have been... more 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. An observational descriptive study was carried out on apparently healthy low birth weight newborns weighing 1500 to ≤2499 g. Pre and post ductal SpO2values were recorded at the following hours of life: 10-24 h, >24-48 h and >48-72 h using a NONIN® pulse oximeter. The ranges of pre- and post-ductal SpO2in the study were similar for both preterm and term neonates in the study (89%-100%). The mean (standard deviation [SD]) pre-ductal SpO2was 95.9% (2.3) and the mean (SD) post-ductal SpO2was 95.9% (2.1). There was a significant increase in pre-ductal SpO2...
World journal for pediatric & congenital heart surgery, Nov 1, 2017
Congenital heart defects (CHDs) are common birth defects with significant impact on morbidity and... more 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. 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. A total of 1,296 children (52.9% male; median age 0.9 years) with CHDs were enrolled. Patients enrolled in Northern Nigeria constituted 34.6% of the study population and were older compared to those enrolled from Southern Nigeria (2.9 ± 3.6 vs 2.4 ± 3.5 years; P = .02). Ventricular septal defects were significantly more prevalent in the North (37.4%) compared with the South (18.5%; P < .0001), while severe CHDs were more prevalent in the South ( P = .004). Of the 208 (16.0%) children who received corrective cardiac intervention, only 43 (20.7%) of them had the intervention done in country. More patients in th...
American journal of medical genetics. Part A, 2017
The cover image, by Paul Kruszka et al., is based on the Original Article Noonan Syndrome in Dive... more The cover image, by Paul Kruszka et al., is based on the Original Article Noonan Syndrome in Diverse Populations, DOI: 10.1002/ajmg.a.38362. Design Credit: Darryl Leja.
American journal of medical genetics. Part A, Jan 27, 2017
Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in ge... more 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. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American, and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenos...
American Journal of Medical Genetics, Jun 14, 2023
Neurofibromatosis type 1 is an autosomal dominant multisystemic disease caused by mutation of the... more 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.
IntroductionAdolescent high blood pressure (HBP) can lead to several end-organ complications if i... more IntroductionAdolescent 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.MethodologyA descriptive cross-sectional study was conducted from August 2020 to December 2020. The selection of 1,490 students, 10–19 years old, was by a two-stage sampling technique. Socio-demographic information and relevant clinical data were obtained using a structured questionnaire. Blood pressure was measured according to standard protocol. Categorical and numerical variables were summarized using frequency, percentages, mean, and standard deviation. The McNemar-Bowker test of symmetry was used to compare the bl...
Small airways diseases are not uncommon in childhood. They account for about 28.4% of hospital ad... more Small airways diseases are not uncommon in childhood. They account for about 28.4% of hospital admissions for lower respiratory tract infections in South West Nigeria, most of which are due to respiratory syncytial virus (RSV) infection. Noninfectious causes of small airways diseases, on the other hand, are poorly recognized and rarely feature in the differential diagnoses of chronic/recurrent lower respiratory tract disease in our environment. We present a case of follicular bronchiolitis in a 2.5-year-old Nigerian female who had left upper lobectomy on account of recurrent cough and progressive shortness of breath.
International Journal of Diabetes in Developing Countries, 2013
The influence of disease duration and glycemic control on cardiac function in type 1 diabetes mel... more The influence of disease duration and glycemic control on cardiac function in type 1 diabetes mellitus (T1DM) patients remains controversial. There is little data on young patients in the Sub-Saharan continent. The aim of this study was to determine the effect of disease duration and glycemic control on the cardiac function of children and adolescents with diabetes using echocardiography. In this cross sectional study, 26 T1DM subjects and 33 matched controls had conventional echocardiography done. The relationship between their cardiac parameters, disease duration and glycated hemoglobin (HbA1c) level was assessed with correlation and regression analysis. Five (19.2 %) subjects had evidence of abnormal fractional shortening. There was no significant difference in systolic function between the diabetics and controls. The isovolumic relaxation time and Deceleration time were significantly prolonged in the diabetics (P=0.034, P=0.001 respectively). There was a significant correlation between disease duration and end diastolic diameter (EDD) (P=0.000) and Left ventricular mass (P=0.000). Disease duration was also an independent predictor of EDD (P=0.007), even after adjusting for age, body mass index and mean arterial pressure. There were no significant correlations between HbA1c and measures of cardiac structure or function. The right ventricular diastolic function was poorer in the T1DM subjects compared to the controls. Thus, the disease duration independently predicts left ventricular enlargement in this population of Sub-Saharan youths (who have relatively poor glycemic control).
American journal of medical genetics. Part A, 2017
Down syndrome is the most common cause of cognitive impairment and presents clinically with unive... more Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD = 6.6 years). Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P < 0.001, P < 0.001, P < 0.001,…
Background Childhood obesity and associated hypertension are major public health concerns globall... more Background Childhood obesity and associated hypertension are major public health concerns globally. This study aimed to determine the prevalence of obesity and the associated risk of high blood pressure among Nigerian adolescents. Methods A cross-sectional school-based study of 885 apparently healthy adolescents was performed. Weight, height and blood pressure (BP) were measured using standard methods. Body mass index (BMI) was calculated and categorized by age, sex and percentile. Obesity and overweight were defined as: ≥ 95th and 85th to < 95th percentiles, respectively, for age, sex and height. Subjects were sub-categorized into age 10–13 years (A) and 14–17 years (B). The odds ratio for pre-hypertensive and hypertensive range BP by age and BMI were generated. Significance was set at P
Paediatric cardiac services in Nigeria have been perceived to be inadequate but no formal documen... more Paediatric cardiac services in Nigeria have been perceived to be inadequate but no formal documentation of availability and distribution of facilities and services has been done. To evaluate and document the currently available paediatric cardiac services in Nigeria. In this questionnaire-based, cross-sectional descriptive study, an audit was undertaken from January 2010 to December 2014, of the personnel and infrastructure, with their distributions according to geopolitical zones of Nigeria. Forty-eight centres participated in the study, with 33 paediatric cardiologists and 31 cardiac surgeons. Echocardiography, electrocardiography and pulse oximetry were available in 45 (93.8%) centres while paediatric intensive care units were in 23 (47.9%). Open-heart surgery was performed in six (12.5%) centres. South-West zone had the majority of centres (20; 41.7%). Available paediatric cardiac services in Nigeria are grossly inadequate and poorly distributed. Efforts should be intensified to...
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 2015
Little is known about cardiac surgery-associated acute kidney injury (CS-AKI) in children in deve... more Little is known about cardiac surgery-associated acute kidney injury (CS-AKI) in children in developing regions of the world. The study aimed to determine the prevalence of CSAKI, associated factors and its impact on mortality and utilization of hospital services. The hospital records of children aged 0-17 years who underwent CS at an Indian hospital were reviewed. CS-AKI was defined as a rise in serum creatinine of ≥0.3 mg/dL in any 48 h and or by urine output <0.5 mL/kg/h for an 8-h period in the first five days after CS. The study included 323 children with a median age of one year (0.04-17), of whom 22 (6.8%) were neonates and 18.3% had a single ventricle. About 60% of the children had Risk Adjusted Congenital Heart Surgery-I category 1 or 2 interventions. CS-AKI occurred in 39 children (12.1%). Factors associated with CS-AKI were sepsis and intraand post-operative hypotension. In-hospital mortality was six-fold higher in children who developed CS-AKI. CS-AKI was associated w...
Paediatric cardiac services in Nigeria have been perceived to be inadequate but no formal documen... more Paediatric cardiac services in Nigeria have been perceived to be inadequate but no formal documentation of availability and distribution of facilities and services has been done. To evaluate and document the currently available paediatric cardiac services in Nigeria. In this questionnaire-based, cross-sectional descriptive study, an audit was undertaken from January 2010 to December 2014, of the personnel and infrastructure, with their distributions according to geopolitical zones of Nigeria. Forty-eight centres participated in the study, with 33 paediatric cardiologists and 31 cardiac surgeons. Echocardiography, electrocardiography and pulse oximetry were available in 45 (93.8%) centres while paediatric intensive care units were in 23 (47.9%). Open-heart surgery was performed in six (12.5%) centres. South-West zone had the majority of centres (20; 41.7%). Available paediatric cardiac services in Nigeria are grossly inadequate and poorly distributed. Efforts should be intensified to...
Reference values of oxygen saturation (SpO2) to guide care of low birth weight neonates have been... more 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. An observational descriptive study was carried out on apparently healthy low birth weight newborns weighing 1500 to ≤2499 g. Pre and post ductal SpO2values were recorded at the following hours of life: 10-24 h, >24-48 h and >48-72 h using a NONIN® pulse oximeter. The ranges of pre- and post-ductal SpO2in the study were similar for both preterm and term neonates in the study (89%-100%). The mean (standard deviation [SD]) pre-ductal SpO2was 95.9% (2.3) and the mean (SD) post-ductal SpO2was 95.9% (2.1). There was a significant increase in pre-ductal SpO2...
World journal for pediatric & congenital heart surgery, Nov 1, 2017
Congenital heart defects (CHDs) are common birth defects with significant impact on morbidity and... more 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. 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. A total of 1,296 children (52.9% male; median age 0.9 years) with CHDs were enrolled. Patients enrolled in Northern Nigeria constituted 34.6% of the study population and were older compared to those enrolled from Southern Nigeria (2.9 ± 3.6 vs 2.4 ± 3.5 years; P = .02). Ventricular septal defects were significantly more prevalent in the North (37.4%) compared with the South (18.5%; P < .0001), while severe CHDs were more prevalent in the South ( P = .004). Of the 208 (16.0%) children who received corrective cardiac intervention, only 43 (20.7%) of them had the intervention done in country. More patients in th...
American journal of medical genetics. Part A, 2017
The cover image, by Paul Kruszka et al., is based on the Original Article Noonan Syndrome in Dive... more The cover image, by Paul Kruszka et al., is based on the Original Article Noonan Syndrome in Diverse Populations, DOI: 10.1002/ajmg.a.38362. Design Credit: Darryl Leja.
American journal of medical genetics. Part A, Jan 27, 2017
Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in ge... more 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. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American, and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenos...
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Papers by Ekanem Ekure