Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 5.292
Filtrar
1.
Medicine (Baltimore) ; 99(16): e19813, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32311999

RESUMO

RATIONALE: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder characterized by hypertrichosis cubiti. Here, we report a Chinese boy who do not show the characteristic of hypertrichosis cubiti, and was misdiagnosed as blepharophimosis-ptosis-epicanthus inversus syndrome at first. We found a de novo frameshift mutation (p.Glu390Lysfs*10) in the KMT2A gene, which was not reported before. Our study increases the cohort of Chinese WDSTS patients, and expand the WDSTS phenotypic and variation spectrum. PATIENT CONCERNS: The patient demonstrated typical craniofacial features of blepharophimosis-ptosis-epicanthus inversus syndrome, including small palpebral fissures, ptosis, telecanthus, and epicanthus inversus, besides he had congenital heart disease (ventricular septal defects), strabismus, hypotonia, amblyopia, delayed speech and language development, delayed psychomotor development, and amblyopia (HP:0000646) which was not reported before. DIAGNOSIS: FOXL2 gene was cloned and sequenced, however, there was no mutation detected in this patient. The result of Chromosomal microarray analysis was normal. The patient was diagnosed as WDSTS by whole exome sequencing. INTERVENTIONS: The patient received cardiac surgery, frontalis suspension and regular speech and occupational therapy. He also treated with growth hormone (GH). OUTCOMES: The patient's symptoms are improved after cardiac surgery and frontalis suspension, he can express himself well now and had a 10 cm gain in height. LESSONS: As the relationship between genotype and phenotype becomes more and more clear, WES is incredibly powerful tool to diagnose the disease of WDSTS.


Assuntos
Anormalidades Múltiplas/genética , Blefarofimose/diagnóstico , Contratura/genética , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/genética , Cardiopatias Congênitas/diagnóstico , Histona-Lisina N-Metiltransferase/genética , Hipertricose/congênito , Deficiência Intelectual/genética , Microcefalia/genética , Proteína de Leucina Linfoide-Mieloide/genética , Anormalidades da Pele/diagnóstico , Anormalidades Urogenitais/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/terapia , Grupo com Ancestrais do Continente Asiático/genética , Criança , Contratura/diagnóstico , Contratura/terapia , Erros de Diagnóstico , Facies , Genótipo , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/terapia , Hormônio do Crescimento/uso terapêutico , Cardiopatias Congênitas/cirurgia , Humanos , Hipertricose/diagnóstico , Hipertricose/etiologia , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia , Masculino , Microcefalia/diagnóstico , Microcefalia/terapia , Mutação , Fenótipo , Resultado do Tratamento , Sequenciamento Completo do Exoma/métodos
2.
Nat Med ; 26(2): 215-221, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31959989

RESUMO

Most infants with cystic fibrosis (CF) have pancreatic exocrine insufficiency that results in nutrient malabsorption and requires oral pancreatic enzyme replacement. Newborn screening for CF has enabled earlier diagnosis, nutritional intervention and enzyme replacement for these infants, allowing most infants with CF to achieve their weight goals by 12 months of age1. Nevertheless, most infants with CF continue to have poor linear growth during their first year of life1. Although this early linear growth failure is associated with worse long-term respiratory function and survival2,3, the determinants of body length in infants with CF have not been defined. Several characteristics of the CF gastrointestinal (GI) tract, including inflammation, maldigestion and malabsorption, may promote intestinal dysbiosis4,5. As GI microbiome activities are known to affect endocrine functions6,7, the intestinal microbiome of infants with CF may also impact growth. We identified an early, progressive fecal dysbiosis that distinguished infants with CF and low length from infants with CF and normal length. This dysbiosis included altered abundances of taxa that perform functions that are important for GI health, nutrient harvest and growth hormone signaling, including decreased abundance of Bacteroidetes and increased abundance of Proteobacteria. Thus, the GI microbiota represent a potential therapeutic target for the correction of low linear growth in infants with CF.


Assuntos
Fibrose Cística/microbiologia , Disbiose/microbiologia , Fezes/microbiologia , Transtornos do Crescimento/etiologia , Tamanho Corporal , Estudos de Casos e Controles , Feminino , Microbioma Gastrointestinal , Trato Gastrointestinal/microbiologia , Humanos , Lactente , Recém-Nascido , Inflamação , Estudos Longitudinais , Masculino , Análise Multivariada , Mutação , Triagem Neonatal , Estudos Prospectivos , Análise de Sequência de DNA
3.
Eur J Endocrinol ; 182(3): C9-C12, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31972544

RESUMO

Primary adrenal insufficiency (PAI) in children is mostly due to genetic defects. The understanding of the molecular genetics of the causes of adrenal insufficiency in the pediatric population has made significant progress during the last years. It has been shown that inherited PAI can lead to certain clinical manifestations and health problems in children beyond the adrenals. Organ dysfunctions associated with different forms of PAI in children include a wide range of organs such as gonads, brain, heart, bone, growth, bone marrow, kidney, skin, parathyroid, and thyroid. Diagnosing the correct genetic cause of PAI in children is therefore crucial to adequately control long-term treatment and follow-up in such patients.


Assuntos
Doença de Addison/genética , Hiperplasia Suprarrenal Congênita/genética , Doença de Addison/complicações , Doença de Addison/diagnóstico , Doença de Addison/fisiopatologia , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/fisiopatologia , Doenças do Desenvolvimento Ósseo/etiologia , Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/fisiopatologia , Encefalopatias/etiologia , Encefalopatias/genética , Encefalopatias/fisiopatologia , Cardiomiopatias/etiologia , Cardiomiopatias/genética , Cardiomiopatias/fisiopatologia , Transtornos do Desenvolvimento Sexual/etiologia , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/fisiopatologia , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/genética , Transtornos do Crescimento/fisiopatologia , Humanos , Hipoadrenocorticismo Familiar/complicações , Hipoadrenocorticismo Familiar/diagnóstico , Hipoadrenocorticismo Familiar/genética , Hipoadrenocorticismo Familiar/fisiopatologia , Síndromes de Imunodeficiência/etiologia , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/fisiopatologia , Técnicas de Diagnóstico Molecular , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/genética , Síndrome Nefrótica/fisiopatologia , Dermatopatias/etiologia , Dermatopatias/genética , Dermatopatias/fisiopatologia
4.
PLoS Negl Trop Dis ; 14(1): e0007975, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31929525

RESUMO

BACKGROUND: A major limitation to understanding the etiopathogenesis of environmental enteric dysfunction (EED) is the lack of a comprehensive, reproducible histologic framework for characterizing the small bowel lesions. We hypothesized that the development of such a system will identify unique histology features for EED, and that some features might correlate with clinical severity. METHODS: Duodenal endoscopic biopsies from two cohorts where EED is prevalent (Pakistan, Zambia) and North American children with and without gluten sensitive enteropathy (GSE) were processed for routine hematoxylin & eosin (H&E) staining, and scanned to produce whole slide images (WSIs) which we shared among study pathologists via a secure web browser-based platform. A semi-quantitative scoring index composed of 11 parameters encompassing tissue injury and response patterns commonly observed in routine clinical practice was constructed by three gastrointestinal pathologists, with input from EED experts. The pathologists then read the WSIs using the EED histology index, and inter-observer reliability was assessed. The histology index was further used to identify within- and between-child variations as well as features common across and unique to each cohort, and those that correlated with host phenotype. RESULTS: Eight of the 11 histologic scoring parameters showed useful degrees of variation. The overall concordance across all parameters was 96% weighted agreement, kappa 0.70, and Gwet's AC 0.93. Zambian and Pakistani tissues shared some histologic features with GSE, but most features were distinct, particularly abundance of intraepithelial lymphocytes in the Pakistani cohort, and marked villous destruction and loss of secretory cell lineages in the Zambian cohort. CONCLUSIONS: We propose the first EED histology index for interpreting duodenal biopsies. This index should be useful in future clinical and translational studies of this widespread, poorly understood, and highly consequential disorder, which might be caused by multiple contributing processes, in different regions of the world.


Assuntos
Desenvolvimento Infantil , Meio Ambiente , Transtornos do Crescimento/etiologia , Enteropatias/diagnóstico , Enteropatias/epidemiologia , Biópsia , Criança , Pré-Escolar , Duodeno/patologia , Feminino , Transtornos do Crescimento/epidemiologia , Humanos , Lactente , Enteropatias/complicações , Masculino , América do Norte/epidemiologia , Paquistão/epidemiologia , Zâmbia/epidemiologia
5.
BMC Pregnancy Childbirth ; 19(1): 504, 2019 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-31847831

RESUMO

BACKGROUND: Stunted growth in early infancy is a public health problem in low-and-middle income countries. Evidence suggests heavy agricultural work during pregnancy is inversely associated with maternal body mass index (BMI) and infant birth weight in low- and middle-income countries; but pathways linking agricultural work to length-for-age Z-scores (LAZ) in early infancy have not been examined. This study aimed to investigate the relationship between agricultural work during pregnancy, post-natal maternal BMI and LAZ among young infants in rural Pakistan; and explored whether maternal BMI mediated the relationship between agricultural work and infant LAZ. METHODS: A cross-sectional survey was conducted from December 2015 to January 2016 in rural Sindh, Pakistan. Mother-infant dyads were recruited via systematic random cluster sampling at 2-12 weeks' post-partum (n = 1161). Anthropometric measurements (maternal and infant height/length and weight) and questionnaire data were collected. Multivariable linear regression and structural-equation based mediation analyses were used to examine associations of agricultural work during pregnancy with maternal BMI and infant LAZ. RESULTS: During pregnancy, women reported engaging in livestock-related work (57.0%), crop-related work (42.7%), and cotton harvesting (28.4%). All three forms of agricultural work were negatively associated with maternal BMI (ß = - 0.67 [- 1.06; - 0.28], ß = - 0.97 [- 1.51; - 0.48]; and ß = - 0.87 [- 1.33; - 0.45], respectively). Maternal engagement in cotton harvesting alone was negatively associated with infant LAZ after controlling for confounding factors. The total negative effect of cotton harvesting on infant LAZ was - 0.35 [- 0.53; - 0.16]. The indirect effect of maternal BMI on infant LAZ was - 0.06 [- 0.08; - 0.03], revealing that 16% (- 0.06/- 0.35) of the relationship between cotton harvesting and infant LAZ, after adjustment, was mediated via maternal BMI. CONCLUSION: These results underscore a need to reduce labour-intensive agricultural workload demands during pregnancy, especially in cotton harvesting, to reduce risks of negative maternal energy balance and poor growth outcomes in early infancy.


Assuntos
Agricultura , Índice de Massa Corporal , Exposição Materna/efeitos adversos , Mães/estatística & dados numéricos , População Rural/estatística & dados numéricos , Adulto , Antropometria , Peso ao Nascer , Análise por Conglomerados , Produtos Agrícolas , Estudos Transversais , Feminino , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/etiologia , Humanos , Lactente , Recém-Nascido , Masculino , Paquistão , Gravidez , Trabalho/fisiologia
6.
BMC Public Health ; 19(1): 1419, 2019 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-31666032

RESUMO

BACKGROUND: Childhood stunting is the most common manifestation of chronic malnutrition. A growing body of literature indicates that stunting can have negative repercussions on physical and cognitive development. There are increasing concerns that low- and middle-income countries (LMICs) are particularly susceptible to adverse consequences of stunting on economic development. The aim of this review is to synthesize current evidence on interventions and policies that have had success in reducing stunting and explore the impact of successes on economic indicators. METHODS: This review adheres to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Articles were searched through MEDLINE via PubMed and Ovid, Cochrane Library, Web of Science and ProQuest. Only articles that addressed the effects of nutrition and cash-based interventions and/or policies on stunting and reported effects on childhood mortality and/or human capital indicators were included. Two reviewers independently abstracted data and assessed quality. RESULTS: Seventeen studies from Africa (47%), South America (41%), and South Asia (12%) met the eligibility criteria: 8 cohort studies, 4 case studies, 4 Randomized Control Trials (RCTs) and 1 quasi-trial. Three types of interventions/policies were evaluated: multisectoral policies, nutritional supplementations and cash-based interventions (CCT). Overall, 76% of the included studies were successful in reducing stunting and 65% of interventions/policies reported successes on stunting reductions and economic successes. Five of the 11 successful studies reported on nutritional supplementation, 4 reported on multisectoral policies, and 2 reported on CCT interventions. Average Annual Rate of Reduction (AARR) was calculated to assess the impact of multisectoral policies on childhood mortality. AARR for under 5 mortality ranged from 5.2 to 6.2% and all countries aligned with the global target of 4.4% AARR. Quality assessment yielded positive results, with the biggest concerns being attrition bias for cohort studies, blinding for trials and generalizability of results for case studies. CONCLUSIONS: Evidence suggests that investment in fighting chronic malnutrition through multisectoral policies, multi-year nutritional supplementation (protein or multiple micronutrient supplementation) and possibly CCTs can have a long-term impact on economic development of LMICs. More evidence is needed to inform practices in non-represented regions while prioritizing standardization of economic indicators in the literature.


Assuntos
Países em Desenvolvimento , Desenvolvimento Econômico , Assistência Alimentar/economia , Transtornos do Crescimento/prevenção & controle , Desnutrição , Estado Nutricional , Políticas , África , Ásia , Criança , Países em Desenvolvimento/economia , Dieta , Suplementos Nutricionais , Transtornos do Crescimento/economia , Transtornos do Crescimento/etiologia , Humanos , Desnutrição/complicações , Desnutrição/dietoterapia , Desnutrição/economia , Pobreza , América do Sul
7.
Pediatr Int ; 61(9): 889-894, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31515924

RESUMO

BACKGROUND: Many small for gestational age (SGA) infants have catch-up growth during the first 2 years of life, but approximately 10% have no catch-up growth, and short stature continues into adulthood. Identification of risk factors for absence of catch-up growth at an early age may be useful for earlier diagnosis and earlier treatment. METHODS: This was a retrospective multicenter study. The subjects were SGA infants with very low-birthweight (VLBW), who were followed up until the age of 3 years. The risk factors for absence of catch-up growth were identified on statistical analysis. RESULTS: Of the 217 SGA infants in this study, 181 were in the catch-up group and 36 were in the no catch-up group. The catch-up rate was 83%. On multivariate analysis adjusted for gestational age, birthweight, birth height, and birth head circumference, multipara, Z and ΔZ scores of length at 12 months of corrected age, and the Z score of height at 24 months of corrected age were risk factors for lack of catch-up at 3 years. CONCLUSIONS: The length Z and ΔZ scores at 12 months of corrected age may be useful for an earlier diagnosis and earlier initiation of growth hormone treatment in VLBW infants.


Assuntos
Transtornos do Crescimento/etiologia , Recém-Nascido Pequeno para a Idade Gestacional/crescimento & desenvolvimento , Recém-Nascido de muito Baixo Peso/crescimento & desenvolvimento , Pré-Escolar , Diagnóstico Precoce , Feminino , Seguimentos , Transtornos do Crescimento/diagnóstico , Humanos , Lactente , Recém-Nascido , Modelos Logísticos , Masculino , Estudos Retrospectivos , Fatores de Risco
8.
Cardiol Young ; 29(9): 1165-1171, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31379307

RESUMO

INTRODUCTION: Infants with CHD often experience growth failure. Ensuring optimal growth before surgery is associated with improved outcomes and has emerged as a significant cause of parental stress. Parents have reported a perceived lack of accessible feeding information for infants with CHD. To address this gap, the aim of this study was to develop feeding information to better support parents. MATERIALS AND METHODS: A search for existing material on six electronic databases and an internet search for unpublished (grey) literature on feeding information for infants with CHD were carried out. Following the development of feeding information, semi-structured interview(s) with parents/health-care professionals were completed, focusing on whether the information was easy to understand, relevant, provided sufficient information around feeding/feeding difficulties, and whether there were any information gaps. Iterative changes were made to the information following each interview. The process was completed until thematic saturation was achieved. RESULTS: A total of 23 unique articles were identified of which 5 studies were included. From the grey literature, four web pages were reviewed. A total of 22 parents and 25 health-care professionals were interviewed. All parents/health-care professionals felt that the feeding information developed provided sufficient information; however, many wanted information on how to introduce complementary food, particularly if weaning was delayed. CONCLUSIONS: This study describes the development of feeding information for infants with CHD. From parent interviews, gaps identified focused on the introduction of complementary foods and uncertainty regarding the feeding journey beyond surgery.


Assuntos
Aleitamento Materno/estatística & dados numéricos , Desenvolvimento Infantil , Transtornos do Crescimento/terapia , Pessoal de Saúde , Cardiopatias Congênitas/complicações , Pais , Transtornos do Crescimento/etiologia , Humanos , Lactente
9.
Transplant Proc ; 51(7): 2283-2288, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31400976

RESUMO

Congenital nephrotic syndrome (CNS) is a genetic disease that is present in the antenatal period or during the first 3 months of life. In this study, we aimed to compare growth parameters of patients with CNS who received kidney transplants and either (1) had a normal glomerular filtration rate (GFR) at the time of transplant or (2) chronic kidney disease (CKD) at the time of transplant. Patients with a diagnosis of CNS who had a minimum follow-up period of 6 months were evaluated retrospectively. Children at stages 4 or 5 CKD or patients receiving dialysis during the pretransplant period were defined as group 1; patients with normal GFR at the time of transplantation were classified as group 2. Short stature and low weight were defined as less than -2 standard deviation scores (SDS) for height and weight according to their age. A total of 17 patients were included in the study. Thirteen of 17 patients had NPHS1 gene mutations. Group 1 and group 2 consisted of 8 and 9 patients, respectively. Mean height SDS and mean weight SDS in group 2 were higher than group 1 in the pretransplant period (-4.34 ± 1.74 vs -2.84 ± 1.56; P = .011 and -3.54 ± 0.93 vs -1.83 ± 1.13; P = .008). In the post-transplant period, the significant difference in height SDS continued in favor of group 2 (-3.16 ± 1.11 vs -1.16 ± 0.87; P = .002). The short stature rate was 83% in group 1 and 72% in group 2 in the pretransplant period (P = .62), and 83% in group 1 and 27% in group 2 in the post-transplant period (P = .02). Early renal transplantation seems to be effective for optimal height gain in children with CNS.


Assuntos
Transtornos do Crescimento/etiologia , Transplante de Rim/estatística & dados numéricos , Síndrome Nefrótica/cirurgia , Complicações Pós-Operatórias/etiologia , Insuficiência Renal Crônica/cirurgia , Fatores de Tempo , Adolescente , Estatura , Peso Corporal , Criança , Pré-Escolar , Feminino , Taxa de Filtração Glomerular , Humanos , Transplante de Rim/métodos , Masculino , Síndrome Nefrótica/fisiopatologia , Período Pós-Operatório , Diálise Renal/estatística & dados numéricos , Insuficiência Renal Crônica/congênito , Insuficiência Renal Crônica/fisiopatologia , Estudos Retrospectivos
10.
BMC Med ; 17(1): 173, 2019 08 28.
Artigo em Inglês | MEDLINE | ID: mdl-31462230

RESUMO

BACKGROUND: Three large new trials of unprecedented scale and cost, which included novel factorial designs, have found no effect of basic water, sanitation and hygiene (WASH) interventions on childhood stunting, and only mixed effects on childhood diarrhea. Arriving at the inception of the United Nations' Sustainable Development Goals, and the bold new target of safely managed water, sanitation and hygiene for all by 2030, these results warrant the attention of researchers, policy-makers and practitioners. MAIN BODY: Here we report the conclusions of an expert meeting convened by the World Health Organization and the Bill and Melinda Gates Foundation to discuss these findings, and present five key consensus messages as a basis for wider discussion and debate in the WASH and nutrition sectors. We judge these trials to have high internal validity, constituting good evidence that these specific interventions had no effect on childhood linear growth, and mixed effects on childhood diarrhea. These results suggest that, in settings such as these, more comprehensive or ambitious WASH interventions may be needed to achieve a major impact on child health. CONCLUSION: These results are important because such basic interventions are often deployed in low-income rural settings with the expectation of improving child health, although this is rarely the sole justification. Our view is that these three new trials do not show that WASH in general cannot influence child linear growth, but they do demonstrate that these specific interventions had no influence in settings where stunting remains an important public health challenge. We support a call for transformative WASH, in so much as it encapsulates the guiding principle that - in any context - a comprehensive package of WASH interventions is needed that is tailored to address the local exposure landscape and enteric disease burden.


Assuntos
Diarreia/etiologia , Transtornos do Crescimento/etiologia , Higiene , Saneamento , Água/efeitos adversos , Criança , Saúde da Criança , Humanos , Pobreza , Saúde Pública/métodos , Ensaios Clínicos Controlados Aleatórios como Assunto , População Rural
11.
J UOEH ; 41(2): 249-257, 2019.
Artigo em Japonês | MEDLINE | ID: mdl-31292372

RESUMO

Here we report a case of a 12-year-old girl who was referred to our department because of marked short stature of more than -5 SD below the median. Although her growth failure began suddenly at 6 years of age, she never had an examination because she had no other symptoms. Brain MRI examination suggested a tumor in the suprasellar region, and endocrine examination revealed combined pituitery hormone deficiency due to the tumor. Before surgery, the supplementation with hydrocortisone and levothyroxine was initiated. The pathological diagnosis of the surgically removed tumor was xanthogranuloma. The pattern of her growth curve showed a growth failure with sudden onset, which is a typical pattern of short stature secondary to pituitary disfunction including growth hormone deficiency associated with brain tumors. This case suggests that growth failure could be the only symptom in pediatric cases with brain tumors. Improved awareness regarding the association of growth failure with brain tumors is needed for earlier diagnosis and treatment. Furthermore, the growth curves should be carefully evaluated in regular health examinations at school.


Assuntos
Estatura , Insuficiência de Crescimento , Transtornos do Crescimento/etiologia , Doenças da Hipófise/complicações , Xantogranuloma Juvenil/complicações , Anormalidades Múltiplas/etiologia , Fatores Etários , Criança , Diagnóstico Precoce , Facies , Feminino , Transtornos do Crescimento/patologia , Transtornos do Crescimento/prevenção & controle , Humanos , Hipotireoidismo/etiologia , Imagem por Ressonância Magnética , Exame Físico , Doenças da Hipófise/diagnóstico por imagem , Doenças da Hipófise/patologia , Doenças da Hipófise/cirurgia , Hormônios Adeno-Hipofisários/deficiência , Instituições Acadêmicas , Índice de Gravidade de Doença , Fator de Transcrição Pit-1/deficiência , Xantogranuloma Juvenil/diagnóstico por imagem , Xantogranuloma Juvenil/patologia , Xantogranuloma Juvenil/cirurgia
12.
Indian Pediatr ; 56(6): 476-480, 2019 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-31278227

RESUMO

OBJECTIVE: To compare growth, anemia prevalence, and sickness frequency in HIV- exposed uninfected infants on different feeding modes. METHODS: In this retrospective cohort study, 109 HIV-exposed uninfected infants registered at our center were categorized into three groups as per their feeding mode during first 6 months viz. exclusively breast fed (n=50), animal milk fed (n=40) and commercial infant formula fed (n=19). Their anthropometric parameters, hemoglobin and frequency of sickness at the age of 6 months were compared. RESULTS: There were no significant inter-group differences in the weight for age, weight for length, length for age z-scores (P=0.16, 0.37 and 0.12, respectively); proportion of infants with underweight (P=0.63), wasting (P=0.82), or stunting (P=0.82), and mean hemoglobin levels among the 3 groups at 6 month of age. Animal milk fed and formula fed infant had increased risk of sickness compared to exclusively breastfed infants (OR 2.5 and 2.49, respectively; P<0.01). CONCLUSIONS: In circumstances where breastfeeding is not feasible or preferred, animal milk feeding offers a viable alternative to commercial infant feeding formula in HIV exposed infants.


Assuntos
Anemia/prevenção & controle , Aleitamento Materno , Exposição Ambiental , Transtornos do Crescimento/prevenção & controle , Infecções por HIV , Fórmulas Infantis , Leite , Anemia/epidemiologia , Anemia/etiologia , Animais , Búfalos , Bovinos , Feminino , Seguimentos , Cabras , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/etiologia , Humanos , Lactente , Cuidado do Lactente/métodos , Recém-Nascido , Masculino , Prevalência , Estudos Retrospectivos , Magreza/epidemiologia , Magreza/etiologia , Magreza/prevenção & controle
13.
Horm Res Paediatr ; 91(5): 293-310, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31302655

RESUMO

Tall stature and/or accelerated growth (TS/AG) in a child can be the result of a primary or secondary growth disorder, but more frequently no cause can be found (idiopathic TS). The conditions with the most important therapeutic implications are Klinefelter syndrome, Marfan syndrome and secondary growth disorders such as precocious puberty, hyperthyroidism and growth hormone excess. We propose a diagnostic flow chart offering a systematic approach to evaluate children referred for TS/AG to the general paediatrician. Based on the incidence, prevalence and clinical features of medical conditions associated with TS/AG, we identified relevant clues for primary and secondary growth disorders that may be obtained from the medical history, physical evaluation, growth analysis and additional laboratory and genetic testing. In addition to obtaining a diagnosis, a further goal is to predict adult height based on growth pattern, pubertal development and skeletal maturation. We speculate that an improved diagnostic approach in addition to expanding use of genetic testing may increase the diagnostic yield and lower the age at diagnosis of children with a pathologic cause of TS/AG.


Assuntos
Acromegalia/diagnóstico , Transtornos do Crescimento/diagnóstico , Puberdade Precoce/diagnóstico , Acromegalia/etiologia , Criança , Pré-Escolar , Feminino , Transtornos do Crescimento/etiologia , Humanos , Hipertireoidismo/complicações , Hipertireoidismo/diagnóstico , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Masculino , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Puberdade Precoce/etiologia
14.
Nutrients ; 11(6)2019 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-31200550

RESUMO

This study sought to elucidate the multi-level factors that influence behaviors underlying high childhood stunting and widespread micronutrient deficiencies in Kiribati. This two-phase formative research study had an emergent and iterative design using the socio-ecological model as the guiding theoretical framework. Phase 1 was exploratory while phase 2 was confirmatory. In phase 1, in-depth interviews, free lists, seasonal food availability calendar workshops, and household observations were conducted. In phase 2, focus group discussions, pile sorts, participatory workshops, and repeat observations of the same households were completed. Textual data were analyzed using NVivo software; ethnographic data were analyzed with Anthropac software for cultural domain analysis. We found a combination of interrelated structural, community, interpersonal, and individual-level factors contributing to the early child nutrition situation in Kiribati. Despite widespread knowledge of nutritious young child foods among community members, households make dietary decisions based not only on food availability and access, but also longstanding traditions and social norms. Diarrheal disease is the most salient young child illness, attributable to unsanitary environments and sub-optimal water, sanitation, and hygiene behaviors. This research underscores the importance of a multi-pronged approach to most effectively address the interrelated policy, community, interpersonal, and individual-level determinants of infant and young child nutrition in Kiribati.


Assuntos
Transtornos da Nutrição Infantil/epidemiologia , Transtornos da Nutrição Infantil/etiologia , Fenômenos Fisiológicos da Nutrição Infantil , Dieta/efeitos adversos , Fenômenos Ecológicos e Ambientais , Antropologia Cultural , Pré-Escolar , Dieta/etnologia , Características da Família , Feminino , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/etiologia , Humanos , Lactente , Masculino , Micronésia/epidemiologia , Micronutrientes/deficiência , Inquéritos Nutricionais , Estado Nutricional , População Rural/estatística & dados numéricos , População Urbana/estatística & dados numéricos
15.
Nat Rev Nephrol ; 15(9): 577-589, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31197263

RESUMO

Achieving normal growth is one of the most challenging problems in the management of children with chronic kidney disease (CKD). Treatment with recombinant human growth hormone (GH) promotes longitudinal growth and likely enables children with CKD and short stature to reach normal adult height. Here, members of the European Society for Paediatric Nephrology (ESPN) CKD-Mineral and Bone Disorder (MBD), Dialysis and Transplantation working groups present clinical practice recommendations for the use of GH in children with CKD on dialysis and after renal transplantation. These recommendations have been developed with input from an external advisory group of paediatric endocrinologists, paediatric nephrologists and patient representatives. We recommend that children with stage 3-5 CKD or on dialysis should be candidates for GH therapy if they have persistent growth failure, defined as a height below the third percentile for age and sex and a height velocity below the twenty-fifth percentile, once other potentially treatable risk factors for growth failure have been adequately addressed and provided the child has growth potential. In children who have received a kidney transplant and fulfil the above growth criteria, we recommend initiation of GH therapy 1 year after transplantation if spontaneous catch-up growth does not occur and steroid-free immunosuppression is not a feasible option. GH should be given at dosages of 0.045-0.05 mg/kg per day by daily subcutaneous injections until the patient has reached their final height or until renal transplantation. In addition to providing treatment recommendations, a cost-effectiveness analysis is provided that might help guide decision-making.


Assuntos
Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento Humano/uso terapêutico , Insuficiência Renal Crônica/tratamento farmacológico , Criança , Pré-Escolar , Transtornos do Crescimento/etiologia , Hormônio do Crescimento Humano/administração & dosagem , Humanos , Transplante de Rim/efeitos adversos , Diálise Renal/efeitos adversos , Insuficiência Renal Crônica/complicações
16.
Compr Child Adolesc Nurs ; 42(sup1): 65-72, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31192725

RESUMO

The aim of the paper is to examine the relationship between infant and young child feeding practices (aged 6-23 months) and stunting in East Jakarta. A cross-sectional study design is conducted with three main instruments: maternal and child characteristics, feeding practices, and health behaviors. Sampling is done by simple random sampling technique with a total of 143 respondent mothers in East Jakarta. The results of the analysis show no significant relation between infant and young child feeding practices and stunting (p = 0.147), and its relation with maternal and child characteristics, such as maternal age, maternal employment status, maternal educational level, low birthweight less than 2,500 g, sanitation and health behaviors, and household income (p > 0.05). Further longitudinal studies are required to identify risk factors associated with stunting among children.


Assuntos
Comportamento Alimentar , Transtornos do Crescimento/etiologia , Crescimento e Desenvolvimento/fisiologia , Cuidado do Lactente/normas , Distribuição de Qui-Quadrado , Estudos Transversais , Feminino , Transtornos do Crescimento/epidemiologia , Humanos , Indonésia/epidemiologia , Lactente , Cuidado do Lactente/métodos , Recém-Nascido , Masculino
17.
Sante Publique ; Vol. 31(1): 153-163, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31210510

RESUMO

OBJECTIVES: To study the factors associated with stunted physical growth in primary school children and adolescents in the Burkina Faso Sahel. MATERIALS AND METHODS: This was a secondary analysis of the data from the survey conducted by the Directorate of Nutrition in June 2016 in 13 primary schools. The baseline study was conducted from May 15 to 24, 2016. This secondary analysis of the database took place from March to August 2017. The study participants were made up of male and female students from public primary schools and who were beneficiaries of the school canteens of the Dori municipality at the time of the survey. Logistic regression was used to identify the factors associated with a 5% significance level. RESULTS: The analysis involved a sample of 568 students aged 5 to 15 years. Girls accounted for 52% of students. The prevalence of stunting was 32.92% (95% CI [29-36%]), it was 28.93% (95 % CI [23.84-34.62%]) among boys and 36.61 % (95% CI [31.28-42.28%]) in girls. Among primary students, age (ORa = 4.38, P = 0.00), anemia (ORa = 0.24, P = 0.01) and latrine use (ORa = 0.58 with P = 0.02) were the factors statistically associated with stunting (P < 0.05). CONCLUSIONS: The prevalence of stunting among primary school students in the commune of Dori remains high. Associated factors were age, anemia and latrine use. Promotion of latrine use in households and prevention of anemia in children under 5 years of age would be necessary for the reduction of stunting among adolescents.


Assuntos
Transtornos do Crescimento/epidemiologia , Instituições Acadêmicas , Adolescente , Burkina Faso/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Transtornos do Crescimento/etiologia , Humanos , Masculino , Prevalência , Fatores de Risco , Fatores Socioeconômicos , Inquéritos e Questionários
18.
Nutrients ; 11(7)2019 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-31247999

RESUMO

Data on the impact of the ketogenic diet (KD) on children's growth remain controversial. Here, we retrospectively investigated the occurrence of linear growth retardation in 34 children (47% males; age range: 2-17 years) diagnosed with drug-resistant epilepsy (DRE; n = 14) or glucose transporter type 1 deficiency syndrome (GLUT1-DS; n = 20) who had been treated with the KD for 12 months. The general characteristics of children with and without growth retardation were also compared. All participants received a full-calorie, traditional KD supplemented with vitamins, minerals, and citrate. Most children (80%; 11/14 in the DRE subgroup and 16/20 in the GLUT1-DS subgroup) treated with the KD did not show growth retardation at 12 months. Although participants with and without delay of growth did not differ in terms of baseline clinical characteristics, dietary prescriptions, or supplementation patterns, marked ketosis at 12 months tended to occur more frequently in the latter group. Altogether, our results indicate that growth retardation may occur in a minority of children treated with the KD. However, further research is required to identify children at risk and to clarify how increased ketones levels may affect endocrine pathways regulating growth during KD administration.


Assuntos
Desenvolvimento do Adolescente , Desenvolvimento Infantil , Fenômenos Fisiológicos da Nutrição Infantil , Dieta Cetogênica , Estado Nutricional , Valor Nutritivo , Adiposidade , Adolescente , Fenômenos Fisiológicos da Nutrição do Adolescente , Fatores Etários , Estatura , Índice de Massa Corporal , Criança , Pré-Escolar , Dieta Cetogênica/efeitos adversos , Feminino , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/fisiopatologia , Humanos , Itália , Masculino , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Ganho de Peso
19.
Public Health ; 173: 58-68, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31254679

RESUMO

OBJECTIVES: Stunting is a significant cause of poor cognitive performance and lower school achievement. Stunting is observed among pre-school children in several areas in Africa; however, not all children are affected, and children with and without stunting are seen in the same communities. Therefore, this study aimed to identify nutritional and other factors that prevent stunting that may exist in local communities. STUDY DESIGN: This is a prospective cohort study. METHODS: Data were extracted from the Health and Demographic Surveillance System conducted in Kwale County, Kenya. The cohort consisted of all households with children less than five years old, within a radius of 2.2 km from a local health centre. A dietary pattern (DP) survey with a semi-quantitative food frequency questionnaire was conducted on caretakers of children who were voluntary participated from the cohort between June 2012 and August 2012. Using cluster analysis, the children were assigned to a DP group. Logistic regression analysis was applied to calculate the adjusted odds ratios (aORs) of DPs for stunting controlling for other factors. RESULTS: In total, 402 children were included in the analysis. By cluster analysis, three DPs were identified: protein-rich DP; traditional DP; and traditional DP complemented by breastfeeding. The aOR of a child becoming stunted from a normal height during the study period among children who received a traditional DP compared with those who had a protein-rich DP was 2.78 (95% confidence interval [CI]: 1.02-7.55). However, the aOR for children who were already stunted at the start of the study and had a traditional DP was 1.49 (95% CI: 0.82-2.72). Increased aORs of stunting were observed among children aged over 12 months compared with children aged 6-11 months, and the effects of DPs were modified by age in months from 12 to 35 months; however, the effects were near the null value for children over 36 months of age, although these were not statistically significant. CONCLUSIONS: We found that the traditional DP showed a higher risk for stunting compared with the protein-rich DP, and the most vulnerable age range for stunting was between 12 and 35 months. Interventions to prevent stunting should focus on providing 12- to 35-month-old children with locally available, protein-rich foods.


Assuntos
Dieta , Abastecimento de Alimentos/estatística & dados numéricos , Transtornos do Crescimento/etiologia , Estado Nutricional , Aleitamento Materno , Pré-Escolar , Análise por Conglomerados , Estudos de Coortes , Características da Família , Feminino , Transtornos do Crescimento/epidemiologia , Humanos , Lactente , Recém-Nascido , Quênia/epidemiologia , Masculino , Razão de Chances , Estudos Prospectivos , Inquéritos e Questionários
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA