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1.
Medicine (Baltimore) ; 99(37): e22147, 2020 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-32925771

RESUMO

Health disorders in mothers and their children are subject to mutual influences arising from the nature of mother-child relationship. The aim of the study was to analyze the issue of anxiety amongst mothers of short children in aspect of growth hormone (GH) therapy in Poland.The study was based on a group of 101 mothers of originally short-stature children: 70 with GH deficiency treated with recombinant human GH and 31 undergoing the diagnostic process, without any treatment. Collected medical data included the child's gender, height and weight, chronological age, bone age delay, and GH therapy duration. For all children the height SDS (standard deviation score of height) and BMI SDS (standard deviation score of body mass index) were calculated. The Spielberger State-Trait Anxiety Inventory (STAI) was used to evaluate anxiety levels among the recruited mothers. Obtained results revealed low trait anxiety levels in all mothers, with no statistically significant differences between the groups. State anxiety levels were significantly higher in mothers of children without diagnosis and treatment than in mothers of children receiving appropriate therapy. Significantly lower levels of maternal state anxiety were observed during the first stage of the GH therapy, and they were further reduced in mothers of children treated for more than 4 years.Growth failure in Polish children is not associated with high maternal anxiety as a personality trait, but lack of diagnosis and lack of appropriate treatment seem to generate high levels of anxiety as a transient state in mothers. The initiation of GH therapy induces a substantial reduction of maternal state anxiety, and the duration of this treatment causes its further decrease. Mothers of short children undergoing diagnostic process could benefit from psychological support, but it seems to be unnecessary when their children are treated with GH.


Assuntos
Ansiedade/epidemiologia , Transtornos do Crescimento/psicologia , Hormônio do Crescimento/deficiência , Hormônio do Crescimento Humano/uso terapêutico , Mães/psicologia , Adolescente , Fatores Etários , Estatura , Índice de Massa Corporal , Peso Corporal , Criança , Pré-Escolar , Feminino , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/tratamento farmacológico , Humanos , Masculino , Polônia/epidemiologia , Fatores Sexuais
5.
Med Sci (Paris) ; 36(3): 235-242, 2020 Mar.
Artigo em Francês | MEDLINE | ID: mdl-32228842

RESUMO

Overgrowth syndromes are a large group of rare disorders characterized by generalized or segmental excessive growth. Segmental overgrowth syndromes are mainly due to genetic anomalies appearing during the embryogenesis and leading to mosaicism. The numbers of patients with segmental overgrowth with an identified molecular defect has dramatically increased following the recent advances in molecular genetic using next-generation sequencing approaches. This review discusses various syndromes and pathways involved in segmental overgrowth syndromes and presents actual and future therapeutic strategies.


Assuntos
Transtornos do Crescimento/genética , Transtornos do Crescimento/terapia , Mosaicismo , Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/patologia , Síndrome de Beckwith-Wiedemann/terapia , Oftalmopatias/genética , Oftalmopatias/patologia , Oftalmopatias/terapia , Testes Genéticos , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/patologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lipomatose/genética , Lipomatose/patologia , Lipomatose/terapia , Mosaicismo/embriologia , Mutação , Síndromes Neurocutâneas/genética , Síndromes Neurocutâneas/patologia , Síndromes Neurocutâneas/terapia , Nevo Sebáceo de Jadassohn/genética , Nevo Sebáceo de Jadassohn/patologia , Nevo Sebáceo de Jadassohn/terapia , Fosfatidilinositol 3-Quinases/genética , Síndrome de Sturge-Weber/genética , Síndrome de Sturge-Weber/patologia , Síndrome de Sturge-Weber/terapia , Síndrome
6.
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
7.
Zhonghua Er Ke Za Zhi ; 58(3): 194-200, 2020 Mar 02.
Artigo em Chinês | MEDLINE | ID: mdl-32135590

RESUMO

Objective: To survey the children under 7 years of age in nine cities of China for a better understanding of the current situation of childhood stunting. Methods: According to a stratified cluster sampling design, a cross-sectional survey on children under 7 years of age was carried out in 9 cities (Beijing, Harbin and Xi'an in northern China; Shanghai, Nanjing and Wuhan in central China; and Guangzhou, Fuzhou and Kunming in southern China) from June to November in 2016. A total of 110 499 children were recruited. Height of children was evaluated using the growth standards for Chinese children (2009 edition) .Children with height less than the 3rd percentile of the growth standards were considered as stunting, and children with height between the 3rd and 10th percentiles of the growth standards were considered as relatively short stature. Chi-square test was used for comparison between data of boys and girls, urban and suburban, as well as among different ages and regions. Results: Totally 113 084 children under 7 years of age should be investigated and actually 110 499 children were investigated, with a rate of 97.7%. The prevalence of stunting was 1.9% (2 141/110 499) among all the children. The prevalence of stunting in urban children (1.6%, 904/55 524) was lower than that in suburban children (2.3%, 1 237/54 975, χ(2)=56.246, P<0.01). The gender difference in stunting prevalence was not statistically significant (1.9% (1 121/57 921) in boys and 1.9% (1 020/52 578) in girls, χ(2)=0.003, P=0.965). The prevalence of stunting decreased with age for children younger than 3 years, from 1.8% (312/17 080) in 0-<1 year of age group to 1.2% (168/13 740) in 2-<3 years of age group, but increased to 2.2% (240/11 073) at 6-<7 years group. Comparison among different regions showed that the stunting prevalence in southern region was higher than those in the central and northern regions (0.9% (193/20 374) in northern urban, 0.8% (154/18 486) in central urban, and 3.3% (557/16 664) in southern urban children), showing a statistical significance (χ(2)=437.736, P<0.01); 1.1% (241/21 924) in northern suburban, 1.4% (227/16 775) in central suburban and 4.7% (769/16 276) in southern suburban children, showing a statistical significance (χ(2)=646.533, P<0.01). In urban areas, the difference between the central and northern regions showed no statistical significance (χ(2)=1.429, P=0.232) and the stunting prevalence of central Chinese children was slightly higher than that of northern Chinese children in suburban areas (χ(2)=5.130, P=0.024). Among the nine cities, the stunting prevalence of Guangzhou (6.1%, 613/10 019) was higher than those of other cities (χ(2)=1 559.64, P<0.01). Among the stunting children, 78.4% (1 679/2 141) were classified as borderline or mild and only 7.2% (154/2 141) were classified as severe. The prevalence of relatively short stature was 5.2% (5 721/110 499). Conclusions: The prevalence of stunting among children under 7 years of age in nine cities of China is low and most of the stunting children were classified as mild; the prevalence of stunting in suburban children is higher than that in urban children; the gender difference show no statistical significance; and the prevalence of stunting in southern Chinese children is higher than those in central and northern Chinese children.


Assuntos
Estatura , Desenvolvimento Infantil , Transtornos do Crescimento/epidemiologia , Pequim , Estatura/fisiologia , Peso Corporal , Criança , Pré-Escolar , China/epidemiologia , Cidades/estatística & dados numéricos , Estudos Transversais , Feminino , Transtornos do Crescimento/diagnóstico , Humanos , Masculino , Prevalência , Inquéritos e Questionários
8.
Int J Mol Sci ; 20(23)2019 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-31795264

RESUMO

Anterior segment dysgenesis (ASD) encompasses a spectrum of ocular disorders affecting the structures of the anterior eye chamber. Mutations in several genes, involved in eye development, are implicated in this disorder. ASD is often accompanied by diverse multisystemic symptoms and another genetic cause, such as variants in genes encoding collagen type IV. Thus, a wide spectrum of phenotypes and underlying genetic diversity make fast and proper diagnosis challenging. Here, we used AMELIE, an automatic text mining tool that enriches data with the most up-to-date information from literature, and wANNOVAR, which is based on well-documented databases and incorporates variant filtering strategy to identify genetic variants responsible for severely-manifested ASD in a newborn child. This strategy, applied to trio sequencing data in compliance with ACMG 2015 guidelines, helped us find two compound heterozygous variants of the B3GLCT gene, of which c.660+1G>A (rs80338851) was previously associated with the phenotype of Peters plus syndrome (PPS), while the second, NM_194318.3:c.755delC (p.T252fs), in exon 9 of the same gene was noted for the first time. PPS, a very rare subtype of ASD, is a glycosylation disorder, where the dysfunctional B3GLCT gene product, O-fucose-specific ß-1,3-glucosyltransferase, is ineffective in providing a noncanonical quality control system for proper protein folding in cells. Our study expands the mutation spectrum of the B3GLCT gene related to PPS. We suggest that the implementation of automatic text mining tools in combination with careful variant filtering could help translate sequencing results into diagnosis, thus, considerably accelerating the diagnostic process and, thereby, improving patient management.


Assuntos
Fenda Labial/genética , Córnea/anormalidades , Galactosiltransferases/genética , Testes Genéticos/métodos , Glucosiltransferases/genética , Transtornos do Crescimento/genética , Deformidades Congênitas dos Membros/genética , Mutação , Segmento Anterior do Olho/patologia , Fenda Labial/diagnóstico , Mineração de Dados/métodos , Transtornos do Crescimento/diagnóstico , Humanos , Recém-Nascido , Deformidades Congênitas dos Membros/diagnóstico , Análise de Sequência de DNA/métodos
9.
BMC Gastroenterol ; 19(1): 223, 2019 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-31864303

RESUMO

BACKGROUND: Malnutrition is a common problem among children with chronic liver diseases (CLD). We aimed to assess the nutritional status of children with CLD and to correlate the anthropometric indices with the severity of liver disease, liver function tests, insulin growth factor-1 (IGF-1) and 25-hydroxy vitamin D (25- OH D). METHODS: A total of 69 patients with CLD and 50 healthy controls (6 months - 6 years) were included in the study. Nutritional status was assessed by anthropometric indices expressed in standard deviation score (Z score), biochemical, hematological and clinical parameters. RESULTS: We found 52.2% of CLD patients underweight by weight for age (W/A); 50.2% were stunted by height for age/ length for age (HAZ or LAZ); and 39% exhibited wasting by weight/height or (length) for age (W/HZ or W/LZ) z scores analysis. The mean values of z scores for all anthropometric parameters were significantly correlated with unconjugated and conjugated bilirubin and INR (p < 0.05), except HAZ or LAZ. Also, a significant correlation to albumin was found, except for W/HZ or (W/LZ) (p = 0.157). The z scores < - 2 SD based on W/ H versus arm indicators showed significant differences in MUAC, UAA and AMA (p < 0.001). We found no correlation between anthropometric z-scores and the mean IGF-1 and (25- OH D) values (p > 0.05). Malnutrition was directly correlated with the severity of hepatic dysfunction, particularly, Child-Pugh C cases. The mean IGF-1 and (25- OH D) values were significantly correlated with the severity of liver disease (p < 0.001). CONCLUSIONS: Our results identified anthropometric arm indicators and MUAC/A measurements as an effective applied methods for assessing nutritional status in CLD children. Moreover, Integrating comprehensive clinical assessment, anthropometric measurements and objective biochemical analyses is essential for evaluation, follow-up and management of CLD children with variable degree of malnutrition.


Assuntos
Hepatopatias/complicações , Desnutrição/diagnóstico , Avaliação Nutricional , Fatores Etários , Braço/anatomia & histologia , Estatura , Peso Corporal , Proteínas de Transporte/sangue , Estudos de Casos e Controles , Criança , Pré-Escolar , Doença Crônica , Estudos Transversais , Egito , Feminino , Transtornos do Crescimento/sangue , Transtornos do Crescimento/diagnóstico , Cabeça/anatomia & histologia , Humanos , Lactente , Fator de Crescimento Insulin-Like I/análise , Hepatopatias/sangue , Testes de Função Hepática , Masculino , Desnutrição/sangue , Desnutrição/etiologia , Albumina Sérica/análise , Índice de Gravidade de Doença , Pregas Cutâneas , Magreza/sangue , Magreza/diagnóstico , Vitamina D/análogos & derivados , Vitamina D/sangue , Síndrome de Emaciação/sangue , Síndrome de Emaciação/diagnóstico
10.
Nutrients ; 11(11)2019 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-31739632

RESUMO

AIM: To analyze different methods to assess postnatal growth in a cohort of very premature infants (VPI) in a clinical setting and identify potential early markers of growth failure. METHODS: Study of growth determinants in VPI (≤32 weeks) during hospital stay. Nutritional intakes and clinical evolution were recorded. Growth velocity (GV: g/kg/day), extrauterine growth restriction (%) (EUGR: weight < 10th centile, z-score < -1.28) and postnatal growth failure (PGF: fall in z-score > 1.34) at 36 weeks postmenstrual age (PMA) were calculated. Associations between growth and clinical or nutritional variables were explored (linear and logistic regression). RESULTS: Sample: 197 VPI. GV in IUGR patients was higher than in non-IUGRs (28 days of life and discharge). At 36 weeks PMA 66.0% of VPIs, including all but one of the IUGR patients, were EUGR. Prevalence of PGF at the same time was 67.4% (IUGR patients: 48.1%; non-IUGRs: 70.5% (p = 0.022)). Variables related to PGF at 36 weeks PMA were initial weight loss (%), need for oxygen and lower parenteral lipids in the first week. CONCLUSIONS: The analysis of z-scores was better suited to identify postnatal growth faltering. PGF could be reduced by minimising initial weight loss and assuring adequate nutrition in patients at risk.


Assuntos
Insuficiência de Crescimento/diagnóstico , Transtornos do Crescimento/diagnóstico , Transtornos da Nutrição do Lactente/diagnóstico , Doenças do Prematuro/diagnóstico , Recém-Nascido Prematuro , Recém-Nascido de muito Baixo Peso , Estado Nutricional , Antropometria , Estatura , Peso Corporal , Estudos de Coortes , Insuficiência de Crescimento/terapia , Feminino , Retardo do Crescimento Fetal , Idade Gestacional , Transtornos do Crescimento/terapia , Humanos , Lactente , Transtornos da Nutrição do Lactente/terapia , Recém-Nascido , Doenças do Prematuro/terapia , Unidades de Terapia Intensiva Neonatal , Tempo de Internação , Modelos Logísticos , Estudos Longitudinais , Masculino , Avaliação Nutricional , Oxigênio , Nutrição Parenteral , Perda de Peso
11.
Pediatr Ann ; 48(11): e425-e433, 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31710361

RESUMO

A new approach to comprehensive growth and nutrition assessment of infants, children, and adolescents that is etiology based and relatively simple to implement is now available. It encompasses five domains: anthropometry (growth measurements), assessment of change in growth (growth dynamism), duration of the growth abnormalities, etiology of the nutritional imbalance, and impact of the nutritional state on functional outcomes. Its increased use will help to standardize the screening, diagnosis, and documentation of malnutrition in both ambulatory and hospitalized patients. [Pediatr Ann. 2019;48(11):e425-e433.].


Assuntos
Antropometria/métodos , Desenvolvimento Infantil , Transtornos da Nutrição Infantil/diagnóstico , Avaliação Nutricional , Paralisia Cerebral/classificação , Criança , Avaliação da Deficiência , Transtornos do Crescimento/diagnóstico , Humanos , Lactente , Estado Nutricional , Exame Físico , Valores de Referência
12.
Growth Horm IGF Res ; 48-49: 60-64, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31706073

RESUMO

This brief review highlights new studies in three areas of the GH field, namely diagnostics, therapeutics and biomarkers. The diagnosis of GH deficiency has always presented a challenge: there is no "gold standard" test of GH status, and GH levels during stimulation testing are affected by many factors that limit diagnostic accuracy. Two new approaches to diagnosis have been proposed: one involves a classical endocrine test of GH production using a GH secretagogue to test the Ghrelin axis, and shows promise in the diagnosis of adult GH deficiency. The other uses a completely different approach analysing the individual's gene expression profile as a surrogate for GH status with high levels of test accuracy. From the therapeutic aspect, there have been significant efforts to produce a long-acting (LA) GH on the premise that this will improve adherence and patient convenience. Aspects of LA-GH pharmacology are considered, and it will be interesting to see in future years what place LA-GH GH takes in the market. Long term surveillance is a vital part of therapeutics; recent studies across Europe have provided reassurance on the safety of recombinant human GH (r-hGH) for those with uncomplicated growth disorders, but do emphasise the need to continue observation through adulthood. The search for biomarkers that precisely reflect GH action in children and adults is an ongoing task. One of the newer bone markers that shows promise is a fragment of collagen type X which now requires further investigation in humans. In parallel with the diagnostic studies, gene expression profiles at the start of r-hGH treatment have been used to predict GH response in children with GHD and girls with Turner syndrome. These data are promising but need evaluation across a range of growth disorders. R-hGH is an effective, safe therapy used in both children and adults. There is however a need to continue to refine diagnosis, treatment and most importantly long-term pharmacovigilance to ensure that the right patients have the best treatment with robust safety profiles.


Assuntos
Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Fatores de Tempo
13.
Arch. endocrinol. metab. (Online) ; 63(6): 618-629, Nov.-Dec. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1055014

RESUMO

ABSTRACT In addition to auxiological, clinical and metabolic features measurements of growth hormone (GH) and insulin-like growth factor I (IGF-I) complement our tools in diagnosis and follow-up of GH-related disorders. While comparably robust during the pre-analytical phase, measurement and interpretation of concentrations of both hormones can be challenging due to analytical issues and biological confounders. Assay methods differ in terms of antibody specificity, interference from binding proteins, reference preparations and sensitivity. GH assays have different specificity towards different GH-isoforms (e.g. 20 kDa GH, placental GH) and interference from the GH antagonist Pegvisomant. The efficacy to prevent binding protein interference is most important in IGF-I assays. Methodological differences between assays require that reference intervals and diagnostic cut-offs are assay-specific. Among biological variables, pubertal development and age are most relevant for IGF-I, making detailed reference intervals mandatory for interpretation. GH has pulsatile secretion and short half-life. Its concentration is modified by acute factors such as stress, exercise and sleep, but also by intake of oral estrogens and anthropometric factors (e.g. BMI). Other GH dependent biomarkers such as free IGF-I, IGF binding protein 3 (IGFBP 3) and acid labile subunit (ALS) have been proposed. Their concentrations largely mirror the information obtained through measurement of IGF-I, but their measurement can be helpful in particular situations. In this review, we describe the evolution of analytical methods to measure biomarkers of GH action, the impact of the methodological changes on laboratory results and the need to include biological variables in their interpretation. Arch Endocrinol Metab. 2019;63(6):618-29


Assuntos
Humanos , Fator de Crescimento Insulin-Like I/análise , Hormônio do Crescimento Humano/sangue , Transtornos do Crescimento/diagnóstico , Valores de Referência , Biomarcadores/sangue , Seguimentos , Sensibilidade e Especificidade
14.
PLoS One ; 14(10): e0224103, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31648221

RESUMO

BACKGROUND: Midkine (MDK), one of the heparin-binding growth factors, is highly expressed in multiple organs during embryogenesis. Plasma concentrations have been reported to be elevated in patients with a variety of malignancies, in adults with obesity, and in children with short stature, diabetes, and obesity. However, the concentrations in healthy children and their relationships to age, nutrition, and linear growth have not been well studied. SUBJECTS AND METHODS: Plasma MDK was measured by immunoassay in 222 healthy, normal-weight children (age 0-18 yrs, 101 boys), 206 healthy adults (age 18-91 yrs, 60 males), 61 children with BMI ≥ 95th percentile (age 4-18 yrs, 20 boys), 20 girls and young women with anorexia nervosa (age 14-23 yrs), and 75 children with idiopathic short stature (age 3-18 yrs, 42 boys). Body fat was evaluated by dual-energy X-ray absorptiometry (DXA) in a subset of subjects. The associations of MDK with age, sex, adiposity, race/ethnicity and stature were evaluated. RESULTS: In healthy children, plasma MDK concentrations declined with age (r = -0.54, P < 0.001) with values highest in infants. The decline occurred primarily during the first year of life. Plasma MDK did not significantly differ between males and females or between race/ethnic groups. MDK concentrations were not correlated with BMI SDS, fat mass (kg) or percent total body fat, and no difference in MDK was found between children with anorexia nervosa, healthy weight and obesity. For children with idiopathic short stature, MDK concentrations did not differ significantly from normal height subjects, or according to height SDS or IGF-1 SDS. CONCLUSIONS: In healthy children, plasma MDK concentrations declined with age and were not significantly associated with sex, adiposity, or stature-for-age. These findings provide useful reference data for studies of plasma MDK in children with malignancies and other pathological conditions.


Assuntos
Adiposidade , Biomarcadores/sangue , Nanismo/diagnóstico , Transtornos do Crescimento/diagnóstico , Midkina/sangue , Obesidade/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Criança , Pré-Escolar , Nanismo/sangue , Feminino , Transtornos do Crescimento/sangue , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Obesidade/sangue , Adulto Jovem
15.
Nutrients ; 11(10)2019 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-31623183

RESUMO

BACKGROUND: Understanding the drivers contributing to the decreasing trend in stunting is paramount to meeting the World Health Assembly's global target of 40% stunting reduction by 2025. METHODS: We pooled data from 50 Demographic and Health Surveys since 2000 in 14 countries to examine the relationships between the stunting trend and potential factors at distal, intermediate, and proximal levels. A multilevel pooled trend analysis was used to estimate the association between the change in potential drivers at a country level and stunting probability for an individual child while adjusting for time trends and child-level covariates. A four-level mixed-effects linear probability regression model was fitted, accounting for the clustering of data by sampling clusters, survey-rounds, and countries. RESULTS: Stunting followed a decreasing trend in all countries at an average annual rate of 1.04 percentage points. Among the distal factors assessed, a decrease in the Gini coefficient, an improvement in women's decision-making, and an increase in urbanization were significantly associated with a lower probability of stunting within a country. Improvements in households' access to improved sanitation facilities and drinking water sources, and children's access to basic vaccinations were the important intermediate service-related drivers, whereas improvements in early initiation of breastfeeding and a decrease in the prevalence of low birthweight were the important proximal drivers. CONCLUSIONS: The results reinforce the need for a combination of nutrition-sensitive and -specific interventions to tackle the problem of stunting. The identified drivers help to guide global efforts to further accelerate stunting reduction and monitor progress against chronic childhood undernutrition.


Assuntos
Desenvolvimento Infantil , Transtornos da Nutrição Infantil/epidemiologia , Fenômenos Fisiológicos da Nutrição Infantil , Países em Desenvolvimento/economia , Saúde Global/economia , Transtornos do Crescimento/epidemiologia , Transtornos da Nutrição do Lactente/epidemiologia , Desnutrição/epidemiologia , Pobreza , Fatores Etários , Transtornos da Nutrição Infantil/diagnóstico , Transtornos da Nutrição Infantil/economia , Transtornos da Nutrição Infantil/fisiopatologia , Pré-Escolar , Estudos Transversais , Feminino , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/economia , Transtornos do Crescimento/fisiopatologia , Inquéritos Epidemiológicos , Humanos , Lactente , Transtornos da Nutrição do Lactente/diagnóstico , Transtornos da Nutrição do Lactente/economia , Transtornos da Nutrição do Lactente/fisiopatologia , Fenômenos Fisiológicos da Nutrição do Lactente , Recém-Nascido , Masculino , Desnutrição/diagnóstico , Desnutrição/economia , Desnutrição/fisiopatologia , Estado Nutricional , Prevalência , Medição de Risco , Fatores de Risco , Determinantes Sociais da Saúde , Fatores de Tempo
16.
J Neonatal Perinatal Med ; 12(3): 333-338, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31476172

RESUMO

 We report a case of two consecutive pregnancies in the same couple presenting with very low pregnancy-associated plasma protein A (PAPP-A), with both pregnancies affected by multiple anomalies of a similar phenotype identified during mid-trimester ultrasound, and eventual diagnosis of Peters-plus syndrome. This case is important in expanding the differential for very low PAPP-A. It also demonstrates the diagnostic value of whole-exome sequencing (WES) after prenatal diagnosis of recurrent fetal ultrasonographic findings. The importance and complexity of providing patient education to enable informed consent for next generation sequencing technologies is discussed.


Assuntos
Anormalidades Múltiplas/genética , Fenda Labial/diagnóstico , Córnea/anormalidades , Transtornos do Crescimento/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico , Proteína Plasmática A Associada à Gravidez/deficiência , Sequenciamento Completo do Exoma , Anormalidades Múltiplas/diagnóstico , Adulto , Biomarcadores/metabolismo , Fenda Labial/genética , DNA Recombinante/genética , Feminino , Transtornos do Crescimento/genética , Humanos , Deformidades Congênitas dos Membros/genética , Imagem por Ressonância Magnética , Mutação/genética , Gravidez , Resultado da Gravidez , Proteína Plasmática A Associada à Gravidez/genética , Diagnóstico Pré-Natal , Recidiva
17.
Horm Res Paediatr ; 92(1): 1-14, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31514194

RESUMO

The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children. Forty-six international experts participated at the invitation of GRS including clinicians, basic scientists, and representatives from regulatory agencies and the pharmaceutical industry. Following plenary presentations addressing the current diagnosis and therapy of short stature in children, breakout groups discussed questions produced in advance by the planning committee and reconvened to share the group reports. A writing team assembled one document that was subsequently discussed and revised by participants. Participants from regulatory agencies and pharmaceutical companies were not part of the writing process. Short stature is the most common reason for referral to the pediatric endocrinologist. History, physical examination, and auxology remain the most important methods for understanding the reasons for the short stature. While some long-standing topics of controversy continue to generate debate, including in whom, and how, to perform and interpret growth hormone stimulation tests, new research areas are changing the clinical landscape, such as the genetics of short stature, selection of patients for genetic testing, and interpretation of genetic tests in the clinical setting. What dose of growth hormone to start, how to adjust the dose, and how to identify and manage a suboptimal response are still topics to debate. Additional areas that are expected to transform the growth field include the development of long-acting growth hormone preparations and other new therapeutics and diagnostics that may increase adult height or aid in the diagnosis of growth hormone deficiency.


Assuntos
Transtornos do Crescimento , Hormônio do Crescimento Humano , Criança , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/genética , Transtornos do Crescimento/patologia , Transtornos do Crescimento/terapia , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/uso terapêutico , Humanos
18.
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
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