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1.
Am J Med Genet A ; 191(9): 2411-2415, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37313780

RESUMO

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.


Assuntos
Transtornos do Desenvolvimento Sexual , Comunicação Interventricular , Neurofibromatose 1 , Nevo Pigmentado , Humanos , Criança , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/genética , Nevo Pigmentado/congênito
2.
Am J Med Genet A ; 191(1): 271-274, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36301051

RESUMO

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. Here, we present the first reported case of an African child with a variant in NOTCH2 gene and features of Hajdu-Cheney syndrome in whom we detected a congenital heart defect that has not been previously reported in association with the syndrome. To appropriately characterize this disease and document correct proportion of cardiovascular malformation associations, echocardiography is recommended for all cases of Hajdu Cheney syndrome.


Assuntos
Anormalidades Cardiovasculares , Síndrome de Hajdu-Cheney , Osteoporose , Criança , Humanos , Síndrome de Hajdu-Cheney/diagnóstico , Síndrome de Hajdu-Cheney/genética , Receptor Notch2/genética , Osteoporose/genética , Heterozigoto , Anormalidades Cardiovasculares/complicações , Anormalidades Cardiovasculares/diagnóstico , Anormalidades Cardiovasculares/genética
3.
PLoS One ; 17(7): e0263948, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35901057

RESUMO

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. Coagulation abnormalities was determined using complete blood count, prothrombin time, activated partial thromboplastin time and D-dimer assay. RESULTS: The prevalence of coagulation abnormalities among children with CHD and controls was 37.1% and 7.1% respectively. Children with Cyanotic CHD had a significantly higher prevalence of coagulation abnormalities compared to children with Acyanotic CHD (57.1% versus 17.1%). Haematocrit and oxygen saturation levels were significantly associated with coagulation abnormalities. CONCLUSION: This study affirms that coagulation abnormalities are frequent in children with uncorrected CHD. Oxygen saturation and haematocrit are risk factors of coagulation abnormalities. Routine coagulation screen is recommended especially in children with cyanotic congenital heart defects to improve their quality of life and reduce morbidity and mortality while awaiting definitive surgeries.


Assuntos
Transtornos da Coagulação Sanguínea , Cardiopatias Congênitas , Transtornos da Coagulação Sanguínea/complicações , Criança , Estudos Transversais , Cianose/complicações , Países em Desenvolvimento , Cardiopatias Congênitas/cirurgia , Hospitais de Ensino , Humanos , Lactente , Qualidade de Vida
4.
Afr J Paediatr Surg ; 18(4): 219-223, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34341307

RESUMO

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. MATERIALS AND METHODS: This was a prospective study design. Patients with an OFC were consecutively enrolled at a single OFC treatment facility. All subjects were assessed by a paediatric cardiologist and had echocardiography done. They were categorised based on the presence of CHDs, as well as the OFC phenotypic type (cleft lip and/or alveolus, cleft lip and palate and cleft palate only). Statistical analysis was done using STATA version 14 (College Station, Texas), and significance was set at P < 0.05. RESULTS: A total of 150 subjects enrolled in the study over a period of 2 years (2018-2020). The median age of subjects was 6 months (interquartile range: 2-24), and 54.7% were female. The prevalence of CHDs in the subjects reviewed was 30.7%. Based on the severity of CHDs, the majority presented with simple defects (95.6%). Overall, the most common presentation was patent foramen ovale (12.7%), followed by septal defects (8.0%). There was no significant association between cleft type and the odds of a CHD. CONCLUSION: The study reports a relatively high prevalence of CHDs in patients with OFC; however, there was no association between the risk of CHD by cleft type. Although a majority of CHDs may pose a low operative risk, cardiac evaluation is recommended for all cases of OFC to aid the identification of potentially high-risk cases.


Assuntos
Anormalidades Múltiplas , Fenda Labial , Fissura Palatina , Cardiopatias Congênitas , Criança , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Feminino , Cardiopatias Congênitas/epidemiologia , Humanos , Lactente , Estudos Prospectivos
5.
BMC Pediatr ; 21(1): 97, 2021 02 25.
Artigo em Inglês | MEDLINE | ID: mdl-33632178

RESUMO

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. A total of 360 participants (180 athletes and 180 controls) were recruited from six secondary schools in Lagos, Nigeria between November 2014 and July 2015. Evaluation included interviewer-administered questionnaires for relevant history, physical examination and resting 12 - lead ECG for each participant. RESULTS: Abnormal ECG patterns were found in 48.3% of athletes and 35.6% of controls. Training-related ECG findings occurred in 33.3% of athletes and 18.3% of controls. Athletes and controls had 7.7% prevalence of training un-related ECG patterns respectively. Left ventricular hypertrophy was the most common ECG finding among the athletes and male athletes had a higher prevalence of ECG abnormalities compared to females. CONCLUSION: Adolescent athletes in Nigeria have a high prevalence of training-related ECG patterns and athletes and non-athletes alike have similar proportions of ECG findings suggestive of underlying structural heart disease. Cardiovascular evaluation including ECG should be performed for young athletes prior to competition at any level and should also be considered as part of pre-school entry assessment for all children.


Assuntos
Atletas , Eletrocardiografia , Adolescente , Criança , Estudos Transversais , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/etiologia , Feminino , Humanos , Masculino , Nigéria/epidemiologia
6.
Circ Genom Precis Med ; 14(1): e003108, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33448881

RESUMO

BACKGROUND: Congenital heart disease (CHD) is the most common birth defect and affects roughly 1% of the global population. There have been many large CHD sequencing projects in developing countries but none in sub-Saharan Africa. In this exome sequencing study, we recruited families from Lagos, Nigeria, affected by structural heart disease. METHODS: Ninety-eight participants with CHD and an average age of 3.6 years were recruited from Lagos, Nigeria. Exome sequencing was performed on probands and parents when available. For genes of high interest, we conducted functional studies in Drosophila using a cardiac-specific RNA interference-based gene silencing system. RESULTS: The 3 most common CHDs were tetralogy of Fallot (20%), isolated ventricular septal defect (14%), and transposition of the great arteries (8%). Ten percent of the cohort had pathogenic or likely pathogenic variants in genes known to cause CHD. In 64 complete trios, we found 34 de novo variants that were not present in the African population in the Genome Aggregation Database (v3). Nineteen loss of function variants were identified using the genome-wide distribution of selection effects for heterozygous protein-truncating variants (shet). Nine genes caused a significant mortality when silenced in the Drosophila heart, including 4 novel disease genes not previously associated with CHD (UBB, EIF4G3, SREBF1, and METTL23). CONCLUSIONS: This study identifies novel candidate genes and variants for CHD and facilitates comparisons with previous CHD sequencing studies in predominantly European cohorts. The study represents an important first step in genomic studies of CHD in understudied populations. Registration: URL: https://www.clinicaltrials.gov; Unique identifier: NCT01952171.


Assuntos
Cardiopatias Congênitas/diagnóstico , Animais , Pré-Escolar , Drosophila , Fator de Iniciação Eucariótico 4G/antagonistas & inibidores , Fator de Iniciação Eucariótico 4G/genética , Fator de Iniciação Eucariótico 4G/metabolismo , Feminino , Cardiopatias Congênitas/genética , Heterozigoto , Humanos , Lactente , Mutação com Perda de Função , Masculino , Miocárdio/metabolismo , Nigéria , Interferência de RNA , Ubiquitina/antagonistas & inibidores , Ubiquitina/genética , Ubiquitina/metabolismo , Sequenciamento do Exoma
7.
Am J Med Genet C Semin Med Genet ; 184(1): 47-52, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32052942

RESUMO

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. Using clinical assessment and portable echocardiography, 4107 school children aged 5 years to 16 years in Lagos, Nigeria, were selected using a multistage sampling procedure and screened for CHD. Diagnosis of CHD was made after echocardiography. Children identified with CHD were referred to a tertiary hospital for appropriate cardiac care. The 4,107 children screened had a mean age of 11.3 ± 2.7 years and 53.7% were females. Twenty seven children had echocardiography-confirmed CHD, representing a prevalence of CHD among school children in Lagos, Nigeria of 6.6 per 1000 children. Acyanotic CHD constituted 96.3% of detected cases. Two children diagnosed with CHD (Tetralogy of Fallot and severe pulmonary valve stenosis respectively) had successful intervention. The prevalence of previously undiagnosed CHD among school children in Lagos Nigeria is substantial and highlights gaps in the health care system and school health programs. Echocardiographic screening of school children provides an opportunity for missed early diagnosis and treatment of CHD and reduces the prevalence of first-diagnosed CHD in adulthood. Therefore, focused clinical examination of school children followed by echocardiography is a strategy that could bridge this diagnostic and treatment gap in CHD.


Assuntos
Cardiopatias Congênitas/epidemiologia , Estenose da Valva Pulmonar/diagnóstico , Tetralogia de Fallot/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Ecocardiografia , Feminino , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/patologia , Humanos , Masculino , Nigéria/epidemiologia , Estenose da Valva Pulmonar/epidemiologia , Estenose da Valva Pulmonar/patologia , Instituições Acadêmicas , Tetralogia de Fallot/epidemiologia , Tetralogia de Fallot/patologia
8.
Am J Med Genet A ; 179(8): 1423-1425, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31140686

RESUMO

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. TSC is not well described in patients from sub-Saharan Africa or of black African ancestry. Here, we report on a 4-year-old Nigerian boy with skin lesions and cardiac anomalies associated with TSC. Furthermore, we note that in areas with limited resources for genetic diagnoses, the common skin manifestations found in TSC may be especially useful clinical markers.


Assuntos
Angiofibroma/genética , Mutação , Rabdomioma/genética , Proteína 1 do Complexo Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética , Esclerose Tuberosa/genética , Angiofibroma/diagnóstico , Angiofibroma/patologia , Pré-Escolar , Expressão Gênica , Humanos , Masculino , Miocárdio/metabolismo , Miocárdio/patologia , Nigéria , Rabdomioma/diagnóstico , Rabdomioma/patologia , Pele/metabolismo , Pele/patologia , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/patologia , Sequenciamento do Exoma
9.
Trop Med Int Health ; 24(6): 757-765, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30938017

RESUMO

OBJECTIVE: Echocardiographic screening for Rheumatic Heart Disease (RHD) in Africa has revealed prevalence rates in the range of 0.5-7.4%. There are no recent large population-based studies in Nigeria. The objective of the study was to determine the prevalence of RHD in a large sample of Nigerian school children. METHODS: Using portable transthoracic echocardiography and auscultation, school children aged 5 years to 16 years in Lagos, Nigeria were screened for RHD. Diagnosis was based on the 2012 World Heart Federation echocardiographic criteria. RESULTS: The 4107 children screened had mean age of 11.3 years (SD = 2.6) and 2206 (53.7%) were females. There were 38 children with abnormal echocardiograms, of which 11 (0.27%) showed RHD including two cases of definite RHD giving a prevalence of 2.7/1000 [2.9/1000 in the peri-urban, 2.4/1000 in the urban area). Echocardiography detected RHD 10 times better than auscultation [echocardiography 11 (0.27%) vs. auscultation 1 (0.02%); P = 0.003]. The remaining 27 children with abnormal echocardiograms had congenital heart defects (CHD) giving a prevalence of 6.6/1000 for CHD, a yield higher than for RHD. CONCLUSION: Prevalence of RHD among school children in Lagos, South West Nigeria is low compared to other African countries, possibly due to better access to medical care and antibiotic treatment for infections. Our data provides evidence that RHD prevalence may vary substantially within sub-Saharan Africa, necessitating targeted population-based sampling to better understand disease burden and distribution. Further work is needed to compare within- and between-country RHD prevalence as a basis for programme planning and control efforts.


OBJECTIF: Le dépistage échocardiographique de la cardiopathie rhumatismale (CR) en Afrique a révélé des taux de prévalence compris entre 0,5 et 7,4%. Il n'existe pas de grande étude récente de population au Nigéria. L'objectif de l'étude était de déterminer la prévalence de la CR dans un grand échantillon d'écoliers nigérians. MÉTHODES: A l'aide d'une échocardiographie et d'une auscultation trans-thoraciques portables, des écoliers âgés de 5 à 16 ans de Lagos, au Nigeria, ont été soumis à un dépistage de la CR. Le diagnostic reposait sur les critères échocardiographiques de la Fédération Mondiale du Cœur de 2012. RÉSULTATS: Les 4.107 enfants testés avaient un âge moyen de 11,3 ans (DS = 2,6) et 2.206 (53,7%) étaient de sexe féminin. Il y avait des échocardiogrammes anormaux chez 38 enfants, dont 11 (0,27%) présentaient une CR, y compris deux cas de CR bien définie, donnant une prévalence de 2,7/1000 [2,9/1000 dans les zones périurbaines, 2,4/1000 dans les zones urbaines). L'échocardiographie a détecté une CR 10 fois mieux que l'auscultation [échocardiographie 11 (0,27%) contre auscultation 1 (0,02%); p = 0,003]. Les 27 enfants restants dont les échocardiogrammes étaient anormaux avaient une cardiopathie congénitale (CHD), ce qui donnait une prévalence de 6,6/1.000 pour les cardiopathies congénitales, donnant une prévalence de 6,6/1000, un rendement supérieur à celui de la CR. CONCLUSION: La prévalence de la CR parmi les écoliers à Lagos, dans le sud-ouest du Nigéria, est faible comparée à celle d'autres pays africains, probablement en raison d'un meilleur accès aux soins médicaux et au traitement antibiotique contre les infections. Nos données fournissent des preuves que la prévalence de la CR peut varier considérablement en Afrique subsaharienne, nécessitant un échantillonnage ciblé de la population pour mieux comprendre la charge et la répartition de la maladie. Des études supplémentaires sont nécessaires pour comparer la prévalence de la CR intra- et inter pays en tant que base des efforts de planification et de lutte des programmes.


Assuntos
Ecocardiografia , Programas de Rastreamento/estatística & dados numéricos , Cardiopatia Reumática/diagnóstico por imagem , Cardiopatia Reumática/epidemiologia , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Cardiopatias Congênitas/epidemiologia , Humanos , Masculino , Nigéria , Prevalência , Instituições Acadêmicas , Organização Mundial da Saúde
10.
Birth Defects Res ; 110(16): 1233-1240, 2018 10 02.
Artigo em Inglês | MEDLINE | ID: mdl-30230273

RESUMO

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. RESULTS: Clinical presentation was often late with just over half (58.1%) presenting in infancy. The male:female distribution was 1:1. The predominant types of cardiac lesion seen were septal defects (43%), conotruncal defects (23.7%), atrioventricular septal defects (9.8%), and right ventricular outflow tract obstruction (7.3%). Cyanotic CHD was seen in 28.4% of cases and the single most common cyanotic CHD was Tetralogy of Fallot (13.4%). Children with cyanotic CHD were older (p = .002), had more severe lesions (p < .0001) and were more likely to have cardiac intervention (p < .0001). Extracardiac malformations were present in nearly one-third of the children. Syndromes associated with CHD were identified in 15.5% of the children and included Down syndrome (11.9%), congenital rubella syndrome (1.0%), and Marfan syndrome (0.7%). CONCLUSIONS: This study is a large case series of CHD from a single site in sub-Saharan Africa utilizing clinical, epidemiological, and developmental considerations. It provides a rich and up-to-date description of the clinical epidemiology of CHD in Nigerian children while yielding data that could be useful for designing genetic, molecular, and biomarker studies.


Assuntos
Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/fisiopatologia , Adolescente , Criança , Pré-Escolar , Ecocardiografia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Nigéria/epidemiologia
11.
World J Pediatr Congenit Heart Surg ; 8(6): 699-706, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-29187100

RESUMO

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. RESULTS: 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 the South received intervention compared to the North (19.02% vs 10.5%; P < .0001). CONCLUSION: This is the first prospective, registry-based, multicenter study of CHDs in Nigerian children. We demonstrate important differences between the Northern and the Southern geographical regions of the country in terms of age at diagnosis, type, and severity of lesion as well as access to cardiac surgery. The findings demonstrate the utility of a national CHDs registry for understanding clinical epidemiology of CHDs in low- and middle-income countries and its potential to serve as a basis for research and planning.


Assuntos
Cardiopatias Congênitas/epidemiologia , Sistema de Registros , Adolescente , Procedimentos Cirúrgicos Cardíacos , Criança , Pré-Escolar , Estudos Transversais , Ecocardiografia , Feminino , Cardiopatias Congênitas/diagnóstico , Humanos , Lactente , Recém-Nascido , Masculino , Morbidade/tendências , Nigéria/epidemiologia , Estudos Prospectivos , Taxa de Sobrevida/tendências
12.
PLoS One ; 12(9): e0184287, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28910308

RESUMO

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. METHODS: In this cross sectional study, evaluation involved obtaining bio-data, history and physical examination findings in 175 SCA subjects with haemoglobin genotype SS aged 5 to 18 years and 175 age and sex matched controls with haemoglobin genotype AA. PHT was determined using peak Tricuspid Regurgitant Velocity (TRV) obtained from echocardiography as a marker. Complete blood count (CBC), lactate dehydrogenase (LDH) assay, reticulocyte count, foetal haemoglobin (HbF) estimation as well as Human Immunodeficiency Virus (HIV) I and II, Hepatitis B Virus (HBV) and Hepatitis C Virus (HCV) screening were done for patients with SCA. RESULTS: The mean peak TRV of subjects with SCA and controls was 2.2 ± 0.4 m/s and 1.9 ± 0.3 m/s respectively and prevalence of PHT among children with SCA and controls was 22.9% and 2.3% respectively. PHT in SCA correlated negatively with body mass index, haematocrit and haemoglobin. CONCLUSION: This study affirms that PHT prevalence is high in children with SCA in Nigeria. Cardiovascular examination for signs of PHT is recommended for children with SCA and if required, further echocardiographic assessment from as early as five years.


Assuntos
Anemia Falciforme , Hipertensão Pulmonar , Adolescente , Anemia Falciforme/sangue , Anemia Falciforme/complicações , Anemia Falciforme/epidemiologia , Anemia Falciforme/fisiopatologia , Biomarcadores/sangue , Contagem de Células Sanguíneas , Criança , Pré-Escolar , Eletrocardiografia , Feminino , Humanos , Hipertensão Pulmonar/sangue , Hipertensão Pulmonar/epidemiologia , Hipertensão Pulmonar/etiologia , Hipertensão Pulmonar/fisiopatologia , Masculino , Nigéria , Prevalência
13.
Am J Med Genet A ; 173(9): 2323-2334, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28748642

RESUMO

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 stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world.


Assuntos
Face/fisiopatologia , Genética Populacional , Síndrome de Noonan/genética , Povo Asiático , População Negra/genética , Criança , Feminino , Humanos , Masculino , Quinases de Proteína Quinase Ativadas por Mitógeno/genética , Síndrome de Noonan/fisiopatologia , Transdução de Sinais , População Branca/genética , Proteínas ras/genética
14.
Cardiovasc J Afr ; 28(1): 54-59, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27701490

RESUMO

BACKGROUND: 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. OBJECTIVE: To evaluate and document the currently available paediatric cardiac services in Nigeria. METHODS: 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. RESULTS: 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%). CONCLUSIONS: Available paediatric cardiac services in Nigeria are grossly inadequate and poorly distributed. Efforts should be intensified to upgrade existing facilities, establish new and functional centres, and train personnel.


Assuntos
Cardiologia/organização & administração , Auditoria Clínica , Acessibilidade aos Serviços de Saúde/organização & administração , Pediatria/organização & administração , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Nigéria , Inquéritos e Questionários
15.
Niger Postgrad Med J ; 24(4): 224-229, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29355161

RESUMO

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. METHODOLOGY: 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. RESULTS: 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 SpO2from 10 to 24 h through >48-72 h of life (P = 0.027). The mode of delivery did not affect SpO2values within 10-24 h of life. CONCLUSION: The present study documented daily single pre- and post-ductal SpO2 values for preterm and term low birth weight neonates weighing 1500 g to <2500 g during the first 72 h of life. The overall range and mean pre- and post-ductal SpO2 were similar for both categories of stable low birth weight neonates in the study. There was no significant difference between SpO2ranges for late preterm compared to term low birth weight neonates. The results obtained could serve as guide in assessing SpO2of low birth weight neonates weighing between 1500 and 2499 g in the first 72 h of life.


Assuntos
Recém-Nascido de Baixo Peso , Recém-Nascido/metabolismo , Oximetria , Oxigênio/metabolismo , Peso ao Nascer , Feminino , Humanos , Masculino , Nigéria , Oxigênio/análise , Gravidez , Valores de Referência
16.
BMC Health Serv Res ; 14: 192, 2014 Apr 28.
Artigo em Inglês | MEDLINE | ID: mdl-24774506

RESUMO

BACKGROUND: Nigeria is frequently associated with disproportionately high rates of severe neonatal jaundice (NNJ) underpinned by widespread Glucose-6-phosphate dehydrogenase (G6PD) deficiency. Timely and appropriate treatment of NNJ is crucial for preventing the associated morbidity and neuro-developmental sequelae. Since mothers are likely to be the first mostly to observe the onset of severe illness in their newborns, we set out to identify the pattern and predictors of maternal care-seeking practices for NNJ in three culturally-distinct settings in Nigeria. METHODS: A multi-centre study was conducted among women attending antenatal clinics in Abuja, Lagos and Port Harcourt from October 2011 to April 2012 using a pretested questionnaire. Predictors of awareness of NNJ, accurate recognition of NNJ, use of potentially harmful therapies and preference for future hospital treatment were determined with multivariate logistic regressions. RESULTS: Of the 488 participants drawn from the three locations, 431 (88.3%) reported awareness of NNJ, predominantly (57.8%) attributable to professional health workers. A total of 309 (63.3%) mothers with prior knowledge of NNJ claimed they could recognise NNJ, but 270 (87.4%) from this group accurately identified the features of NNJ. Multiparous mothers (Adjusted odds ratio, AOR:4.05; 95% CI:1.75-9.36), those with tertiary education (AOR:1.91; CI:1.01-3.61), and those residing in Lagos (AOR:2.96; CI:1.10-7.97) were more likely to have had prior knowledge of NNJ. Similarly, multiparous mothers (AOR:2.38; CI:1.27-4.46) and those with tertiary education (AOR:1.92; CI:1.21-3.05) were more likely to recognise an infant with jaundice accurately. Mothers educated by health workers were 40% less likely to resort to potentially harmful treatment for NNJ (AOR:0.60; CI:0.39-0.92) but more likely to seek hospital treatment in future for an infant suspected with jaundice (AOR:1.88; CI:1.20-2.95). CONCLUSIONS: Women with tertiary education and multiparous mothers who attend routine antenatal clinics are more likely than less educated women, to be associated with appropriate care-seeking practices for infants with NNJ regardless of the socio-cultural setting. Systematic efforts by professional health workers are warranted, as part of routine antenatal care, to engage other groups of mothers especially those likely to indulge in self-use of potentially harmful therapies.


Assuntos
Icterícia Neonatal/tratamento farmacológico , Serviços de Saúde Materna , Aceitação pelo Paciente de Cuidados de Saúde , Adulto , Estudos Transversais , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Recém-Nascido , Nigéria , Autocuidado , Índice de Gravidade de Doença , Inquéritos e Questionários , Adulto Jovem
17.
BMC Public Health ; 12: 616, 2012 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-22867531

RESUMO

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 < 0.05. RESULTS: The prevalence of overweight and obesity were 13.8% and 9.4%, respectively. The prevalence of hypertensive range systolic BP in obese versus normal BMI females was 16% versus 23% (p=0.00) and 12.1% versus 6.4% (p=0.27) in males. The prevalence of hypertensive range diastolic BP in obese versus normal BMI females was 12% versus 1.4% (p=0.00) and 15.2% versus 3.5% (p=0.01) in males. BMI in group B was significantly associated with pre-hypertensive and hypertensive range systolic BP in overweight (P = 0.01, P = 0.002) and obese subjects (P = 0.00, P = 0.00) and with hypertensive range diastolic BP (P = 0.00) only in obese subjects. The only significant association in group A was between obesity and pre-hypertensive range diastolic BP (P = 0.00). CONCLUSION: The prevalence of hypertensive range BP among obese Nigerian adolescents was high. Screening for childhood obesity and hypertension, and long-term follow-up of obese adolescents into adulthood are recommended.


Assuntos
Hipertensão/etiologia , Obesidade/complicações , Adolescente , Criança , Estudos Transversais , Feminino , Humanos , Hipertensão/epidemiologia , Masculino , Nigéria/epidemiologia , Obesidade/epidemiologia , Pré-Hipertensão/epidemiologia , Distribuição por Sexo
18.
Arch Dis Child ; 96(4): 354-60, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21266339

RESUMO

OBJECTIVE: To investigate the prevalence, profile and predictors of severe malnutrition in children with congenital heart defects (CHDs). DESIGN: Case-control, observational study. SETTING: Tertiary teaching hospital in Lagos, Nigeria (March 2006 to March 2008). PARTICIPANTS: Children aged 3-192 months with uncorrected symptomatic CHD and healthy controls, frequency matched for age and sex. MAIN OUTCOME MEASURES: Prevalence of malnutrition based on WHO/National Center for Health Statistics/Centers for Disease Control and Prevention z score ≤-2; weight for age, weight for height/length and height for age; proportions of underweight, wasting and stunting in cases and controls, and in acyanotic and cyanotic CHD; and predictors of malnutrition using multivariate logistic analysis. RESULTS: 90.4% of cases and 21.1% of controls had malnutrition (p=0.0001), and 61.2% and 2.6%, respectively, had severe malnutrition (p=0.0001). Wasting, stunting and underweight were identified in 41.1%, 28.8% and 20.5%, and 2.6%, 3.9% and 14.5% of cases and controls, respectively. Wasting was significantly higher (58.3%) in acyanotic CHD (p=0.0001), and stunting (68.0%) in cyanotic CHD (p=0.0001). Age at weaning was significantly lower in cases than controls (3.24±0.88 and 7.04±3.04 months, respectively; p=0.0001) and in acyanotic than cyanotic CHD (2.14±0.33 and 5.33±1.22 months, respectively; p=0.004). Predictors of malnutrition in CHD were anaemia, moderate to severe congestive heart failure (CHF), poor dietary intake of fat and prolonged unoperated disease. CONCLUSION: Severe malnutrition in association with anaemia and moderate to severe CHF is highly prevalent in CHD preoperatively in these children. Early weaning may be a marker of feeding difficulties in heart failure.


Assuntos
Cardiopatias Congênitas/complicações , Desnutrição/etiologia , Adolescente , Fatores Etários , Antropometria/métodos , Estudos de Casos e Controles , Criança , Pré-Escolar , Dieta , Feminino , Transtornos do Crescimento/etiologia , Humanos , Lactente , Masculino , Fatores de Risco , Classe Social , Desmame
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