Canalización del crecimiento entre los 2 y los 5 años en niños aparentemente sanos con talla baja a los 2 años / Canalization of growth between 2 and 5 years of age in apparently healthy children with short stature at age 2 years

Introducción. El tamaño del recién nacido se asocia a condiciones intrauterinas. El potencial genético se expresa más tarde; la canalización del crecimiento se describe clásicamente hasta los 24 meses. Objetivo. Describir la canalización del crecimiento entre los 2 y los 5 años en niños aparentemente sanos con talla baja a los 2 años. Población y métodos. Estudio de cohorte retrospectiva. Se incluyeron niños seguidos en un hospital universitario de comunidad entre 2003 y 2019, con puntaje Z de talla menor a -2 DE para edad y sexo a los 2 años. Se excluyeron los nacidos prematuros, con bajo peso y con enfermedades crónicas. Se evaluó la trayectoria de crecimiento. Se definió canalización como la adquisición de talla normal para la población general. Resultados. Se incluyeron 64 niños, de los cuales 37 (58 %) presentaron canalización del crecimiento a los 5 años (20 a los 3 años, 8 a los 4 años, y 9 a los 5 años). La velocidad de crecimiento a los 3 y a los 5 años fue significativamente mayor en los que canalizaron en comparación con los que no lo hicieron; hubo una tendencia similar a los 4 años. De los 27 niños con talla baja a los 5 años, 25 tuvieron al menos un registro de velocidad de crecimiento anual menor al percentil 25. Conclusiones. La mayoría de los niños aparentemente sanos con baja talla a los 2 años alcanzan una talla normal a los 5 años. La velocidad de crecimiento anual permite detectar a los niños con riesgo de no canalizar.

Introduction. Newborn size is associated with intrauterine conditions. Genetic potential is expressed later; the canalization of growth is typically described up to 24 months of age. Objective. To describe the canalization of growth between 2 and 5 years of age in apparently healthy children with short stature at age 2 years. Population and methods. Retrospective, cohort study. Children seen at a community teaching hospital between 2003 and 2019, who had a Z-score for height below -2 SDs for age and sex at age 2 years were included. Infants born preterm, with a low birth weight, and chronic conditions were excluded. Growth patterns were assessed. Canalization was defined as reaching a normal stature for the general population. Results. Sixty-four children were included; 37 (58%) showed canalization of growth at 5 years old (20 at 3 years, 8 at 4 years, and 9 at 5 years). The growth rate at 3 and 5 years of age was significantly higher among those who showed canalization compared to those who did not; a similar trend was observed at 4 years of age. Among 27 children with short stature at 5 years of age, 25 had at least 1 annual growth velocity below the 25th centile. Conclusions. Most apparently healthy children with short stature at 2 years old reached a normal stature at 5 years old. The annual growth velocity allows to detect children at risk of not showing canalization.

Mutación DGAT1 en dos hermanas con falla de medro: reporte de caso / DGAT1 mutation in two sisters with failure to thrive: a case report

Las diarreas y enteropatías congénitas (CODE por su sigla en inglés) son un grupo de trastornos monogénicos que se han descrito en los últimos años. Dentro de las CODE, la mutación del gen de la diacilglicerol o-aciltransferasa 1 (DGAT1) es un trastorno enzimático poco común asociado con diarrea crónica grave de aparición temprana. El objetivo es presentar a dos hermanas que consultaron por diarrea crónica, retraso en el crecimiento, vómitos e hipoalbuminemia en la primera infancia. En ambas pacientes se encontró un compuesto heterocigota de la mutación del DGAT1. Esta mutación se describió previamente en la población asiática; sin embargo, estas son las dos primeras pacientes en tener esta mutación en la población latinoamericana. Estos dos casos pueden ampliar nuestro conocimiento sobre las diarreas congénitas en general y las características clínicas de los pacientes con mutaciones en DGAT1 en particular.

Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that have been described in recent years. Within the CODEs, the mutation in the diacylglycerol O-acyltransferase 1 (DGAT1) gene is a rare enzyme disorder associated with severe, early-onset chronic diarrhea. Our objective is to describe the case of 2 sisters who consulted for chronic diarrhea, growth retardation, vomiting, and hypoalbuminemia in early childhood. A compound heterozygous DGAT1 mutation was found in both patients. This mutation was previously described in the Asian population; however, these are the first 2 patients to show this mutation in the Latin American population. These 2 cases may expand our knowledge about congenital diarrhea in general and the clinical characteristics of patients with DGAT1 mutations in particular.

The status and trend of child growth failure (CGF) burden in children aged < 5 years in China / 公共卫生与预防医学

Objective To analyze the status and trend for the mortality and DALY rates of child growth failure (CGF) in children aged < 5 years in China from 1990 to 2019, so as to provide a scientific basis for CGF prevention and control. Methods The mortality and DALY rates of CGF in children aged < 5 years from 1990 to 2019 were obtained from GBD 2019. The changes of these indicators with the years in China , the United States, Japan, Russia, India and the global were compared and analyzed. Results In 2019, the mortality of child wasting, child stunting and child underweight in children aged < 5 years in China were 9.62/100 000, 1.23/100 000, and 1.29/100 000 respectively, the mortality rates were 867.50/100 000 , 129.23/100 000 , and 112.87/100 000 rescpectively, higher than those of the United States, Japan, and Russia, and far lower than those of India and the global. The disease burden of three types of CGF were all higher in males than females, and higher in children aged < 1 years than children aged 1-4 years. From 1990 to 2019, the mortality and DALY rates of CGF in children aged < 5 years in China decreased from 300.41/100 000 and 26 445.38/100 000 to 10.49/100 000 and 943.57/100 000, respectively. China had the largest drop rate compared with all analyzed countries. As for children aged < 5 years in China, the DALY rate of lower respiratory infection ranked first in all the diseases caused by CGF. Conclusion From 1990 to 2019, the disease burden of CGF in children aged < 5 years has shown a significant decrease in China , but it is still far behind the developed countries. In the future, more attention should be paid to the problems of child growth in hope of reducing the mortality and DALY rates of CGF.

Hallazgos en la endoscopia digestiva alta en niños con talla baja / Findings of upper gastrointestinal endoscopy in children with short stature

Resumen Introducción: en el estudio de la baja talla de origen digestivo en niños no hay un patrón de paraclínicos preestablecido; sin embargo, la endoscopia de vías digestivas puede ser una herramienta útil para tal fin. Objetivo: reportar una serie de casos de niños con diagnóstico de baja talla a quienes se les indicó una endoscopia de vías digestivas altas como parte de su estudio. Reporte de casos: se incluyeron 15 niños entre los 2 y 16 años de edad, 53,3% niñas, 26,7% desnutridos según el índice de masa corporal y la talla para la edad, 66,7% con baja talla grave y 33,3% con baja talla moderada. El 53,3% presentó dolor abdominal, el 46,7% no tuvo ganancia de peso, el 26,7% tuvo inapetencia y el 13,3% tuvo vómito, entre otros. Entre el 40,0% y el 93,4% presentaron macro- o microscópicamente esofagitis, gastritis y duodenitis. Los hallazgos microscópicos más importantes fueron duodenitis crónica con giardiasis, úlceras duodenales, hiperplasia nodular linfoide duodenal, Helicobacter pylori y duodenitis crónica eosinofílica. Conclusiones: a pesar de que la endoscopia de vías digestivas es un método poco utilizado y no bien descrito en el estudio de niños con baja talla, este reporte de casos describe organicidad en un 80,0% de los niños analizados.

Abstract Introduction: The study of short stature of digestive origin in children shows no pre-established laboratory patterns. However, endoscopy of the digestive tract may be a useful tool for this purpose. Objective: To report a series of cases of children with a diagnosis of short stature who underwent upper digestive tract endoscopy as part of their study. Case report: 15 children between the ages of 2 and 16 years were included; 53.3% were girls. 26.7% presented with malnutrition according to their body mass index and height-for-age, 66.7% had short stature, and 33.3% moderate short stature. Abdominal pain was reported in 53.3% of the cases, and no weight gain in 46.7%. Other symptoms were lack of appetite in 26.7%, vomiting in 13.3%, among others. Between 40% and 93.4% of the children presented macro and/or microscopic esophagitis, gastritis, and duodenitis. The most important microscopic findings were chronic duodenitis with giardiasis, duodenal ulcers, duodenal nodular lymphoid hyperplasia, Helicobacter pylori, and chronic eosinophilic duodenitis. Conclusions: Although endoscopy of the digestive tract is a method barely used and not well described in the study of children with short stature, this case report describes organicity in 80% of the children analyzed.

Linear growth and bone metabolism in pediatric patients with inflammatory bowel disease / Crescimento linear e metabolismo ósseo em pacientes pediátricos com doença inflamatória intestinal

Abstract Objective: To review the pathophysiology and evaluation methods of linear growth and bone mineral density in children and adolescents diagnosed with inflammatory bowel disease. Source of data: Narrative review carried out in the PubMed and Scopus databases through an active search of the terms: inflammatory bowel disease, growth, failure to thrive, bone health, bone mineral density, and children and adolescents, related to the last ten years, searching in the title, abstract, or keyword fields. Synthesis of findings: Inflammatory bowel diseases of childhood onset may present as part of the clinical picture of delayed linear growth in addition to low bone mineral density. The presence of a chronic inflammatory process with elevated serum levels of inflammatory cytokines negatively interferes with the growth rate and bone metabolism regulation, in addition to increasing energy expenditure, compromising nutrient absorption, and favoring intestinal protein losses. Another important factor is the chronic use of glucocorticoids, which decreases the secretion of growth hormone and the gonadotrophin pulses, causing pubertal and growth spurt delay. In addition to these effects, they inhibit the replication of osteoblastic lineage cells and stimulate osteoclastogenesis. Conclusion: Insufficient growth and low bone mineral density in pediatric patients with inflammatory bowel disease are complex problems that result from multiple factors including chronic inflammation, malnutrition, decreased physical activity, late puberty, genetic susceptibility, and immunosuppressive therapies, such as glucocorticoids.

Resumo Objetivo: Revisar a fisiopatologia e os métodos de avaliação do crescimento linear e densidade mineral óssea em crianças e adolescentes com diagnóstico de doença inflamatória intestinal. Fontes dos dados: Revisão narrativa a partir de pesquisa nas bases de dados PubMed e Scopus por meio de busca ativa dos termos inflammatory bowel disease, growth, failure to thrive, bone health, bone mineral density, children e adolescents nos últimos dez anos e com busca nos campos título, resumo ou palavra-chave. Resumo dos achados: As doenças inflamatórias intestinais com início na infância podem apresentar como parte do quadro clínico atraso do crescimento linear, além de baixa densidade mineral óssea. A presença de processo inflamatório crônico com elevados níveis séricos das citocinas inflamatórias interfere negativamente na velocidade do crescimento e na regulação do metabolismo ósseo, além de aumentar o gasto energético, comprometer a absorção de nutrientes e favorecer perdas proteicas intestinais. Outro fator importante é o uso crônico de glicocorticoides, que diminuem a secreção de hormônio do crescimento e dos pulsos das gonadotrofinas e ocasionam atraso puberal e no estirão do crescimento. Além desses efeitos, inibem a reprodução das células da linhagem osteoblástica e estimulam a osteoclastogênese. Conclusão: A insuficiência do crescimento e a baixa densidade mineral óssea em pacientes pediátricos com doença inflamatória intestinal são problemas complexos e que decorrem de múltiplos fatores, inclusive inflamação crônica, desnutrição, diminuição da atividade física, puberdade tardia, suscetibilidade genética a terapias imunossupressoras, como os glicocorticoides.

Nutrition support in neonates with congenital heart disease during the perioperative period / 肠外与肠内营养

Objective:To investigate the impact of hospital-based nutritional practices on weight gain in neonates during the immediate postoperative period.Methods:It is a retrospective study of 45 neonates who underwent modified systemic-to-pulmonary artery shunt in Huai'an First People's Hospital.We reviewed the weight-for-age Z-score (WAZ score) at the time points of the date of surgery,transfer from cardiac intensive care unit (CICU) to general ward,and day of hospital discharge.Caloric intake (calories/kg/day) and total fluid intake (ml/kg/day) at different time points were measured too.We also reviewed the initiation time of enteral feeding and CICU stay (days) postoperatively.Results:An overall median WAZ score decrease of-1.3 (IQR-1.7 to-0.7) from time of shunt palliation to hospital discharge.A length of stay of ＞5 days in the CICU,initiation of enteral feeding beyond the postoperative days (POD) 5 and the severity of diseases were significantly associated with a great mean difference in WAZ score(P ＜ 0.001,P ＜ 0.001,P =0.003).Conclusion:The nutrition support in immediate postoperative period is substantially lower than what is needed;initiation time of enteral feeding,a length of stay ＞ 5 days in the CICU and the severity of diseases were independent predictors of a greater change in WAZ score.

Longitudinal Growth in Children and Adolescents with Type 1 Diabetes.

Objective: To study longitudinal growth in children with type 1 diabetes mellitus. Methods: Anthropometry, disease duration, insulin regimens and HbA1C recorded from patients with diabetes enrolled in a specialty clinic. Results: 160 children (75 boys; mean (SD) age 9.4 (3.3) y) were enrolled. 35% children had low (<25th centile) height velocity. Disease duration and HbA1 C affected height velocity (adjusted for puberty). Children on basal-bolus had higher height velocity Z scores than those on a split mix regimen [(0.5(1.6) vs. -0.3(1.4), P<0.05)]. Children diagnosed before 5 years of age had lowest height velocity. Of the children who reached final height, 53% remained below target height. Conclusion: Children with type 1 diabetes mellitus have lower height velocity compared to healthy children; those diagnosed at younger age were at higher risk for growth failure.

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea / 소아과

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

Nutritional Outcomes in Children with Epidermolysis Bullosa: The Experiences of Two Centers in Korea

PURPOSE: Epidermolysis bullosa (EB) is associated with variable risks of extracutaneous manifestations and death. Currently, there is limited information on the clinical course and prognosis of EB in Korea. This study analyzed the nutritional outcomes, clinical morbidity, and mortality of children with EB. MATERIALS AND METHODS: Thirty patients, admitted to Severance Hospital and Gangnam Severance Hospital, from January 2001 to December 2011, were retrospectively enrolled. All patients were diagnosed with EB classified by dermatologists. RESULTS: Among the 30 patients, 5 patients were diagnosed with EB simplex, four with junctional EB, and 21 with dystrophic EB. Wound infection occurred in 47% of the patients, and blood culture-proven sepsis was noted in 10% of the patients. Two (9.2%) patients had esophageal stricture and 11 (52.4%) of the dystrophic EB patients received reconstructive surgery due to distal extremity contracture. There were five mortalities caused by sepsis, failure to thrive, and severe metabolic acidosis with dehydration. According to nutrition and growth status, most of the infants (97%) were born as appropriate for gestational age. However, at last follow-up, 56% of the children were below the 3rd percentile in weight, and 50% were below the 3rd percentile in weight for height. Sixty percent of the children had a thrive index below -3. CONCLUSION: Postnatal growth failure is a serious problem in children with EB. Strategies to maximize nutritional support could alleviate growth failure in children with EB, and thus improve clinical outcomes.

Serodiagnosis of celiac disease in children referred for evaluation of anemia: A pediatric hematology unit's experience.

Background: Children presenting with typical clinical features of celiac disease (CD) are diagnosed relatively easily, however, diagnosis remains challenging and is often delayed when they present with 'difficult to treat anemia' without overt gastrointestinal manifestations. Index study was undertaken to report profile of patients referred to pediatric hematology unit with 'difficult anemia' who subsequently were diagnosed with CD. Materials and Methods: The records of 83 patients (1988-2008) with CD were scrutinized retrospectively who had presented with predominant hematological manifestations. Results: CD was confirmed histologically in 31 (37%), while 52 (63%) were diagnosed by serology alone. The mean age at diagnosis was 8.0 ± 2.8 years. The mean duration of symptom-diagnosis interval was 40.9 ± 30.6 months. Eighty-one (98%) children had anemia (Hb < 11 g/dl) and 55 (66%) had received iron supplements without discernible benefit. Thirty-nine (47%) patients received a blood transfusion. Thirty-six (43%) patients did not have diarrhea. Majority of the patients had either a microcytic-hypochromic (48%) or dimorphic (43%) anemia. Twenty-four (33%) had thrombocytosis, while 5 (7%) had thrombocytopenia. Mean duration of follow-up for patients on roll in the clinic for more than six months was 17.7 ± 20.9 months. Conclusion: Pediatricians and hematologists need to be aware of the extra-intestinal manifestations of CD. Prolonged duration of symptoms and a diagnosis at a relatively older age is striking in children presenting with predominantly hematological manifestations. Investigations for CD are recommended in children presenting with iron deficiency anemia refractory to hematinics or who have coexisting growth retardation. Necessity for biopsy in overtly symptomatic cases is discussed.

Perianastomotic ulceration presenting with long-term iron deficiency anemia and growth failure: A case report and review of the literature / 소아과

Perianastomotic ulceration (PAU) rarely occurs after small bowel resection in infancy. Since the understanding of its pathogenesis is incomplete, an effective method of treatment has not yet been discovered. We report the first case in Korea of a 10-year-old girl with chronic iron deficiency anemia (IDA) and growth failure who was diagnosed with PAU at colonoscopy. Seven years were required to identify the cause of IDA. After surgical resection and revision of anastomosis, a close follow-up is being conducted due to the risk of recurrence. Here, we also review reports on 25 pediatric patients with PAU derived from a search of the English-language literature and describe the clinical features of PAU along with the results of treatment.

Endocrine dysfunction and growth in children with medulloblastoma / 소아과

PURPOSE: In medulloblastoma, craniospinal radiation therapy combined with chemotherapy improves the prognosis of tumors but results in significant endocrine morbidities. We studied the endocrine morbidity, especially growth pattern changes. METHODS: The medical records of 37 patients with medulloblastoma were reviewed retrospectively for evaluation of endocrine function and growth. We performed the growth hormone stimulation test in 16 patients whose growth velocity was lower than 4 cm/yr. RESULTS: The height loss was progressive in most patients. The height standard deviation score (SDS) decreased from -0.1+/-1.3 initially to -0.6+/-1.0 after 1 year(P<0.01). Growth hormone deficiency(GHD) developed in 14 patients. During the 2 years of growth hormone(GH) treatment, the improvements of height gain or progressions of height loss were not observed. Twelve patients(32.4 percent) revealed primary hypothyroidism. One of six patients diagnosed with compensated hypothyroidism progressed to primary hypothyroidism. Primary and hypergonadotropic hypogonadism were observed in two and one patients respectively. There was no proven case of central adrenal insufficiency. CONCLUSION: Growth impairment developed frequently, irrespective of the presence of GHD in childhood survivors of medulloblastoma. GH treatment may prevent further loss of height. The impairment of the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-thyroidal axis is less common, while central adrenal insufficiency was not observed.

Growth impairment of primary chondrocyte cells by serum of rats with chronic renal failure

Insulin-like growth factor (IGF)/IGF binding protein (IGFBP) abnormalities may be important in the pathogenesis of growth failure in chronic renal failure (CRF). We induced experimental CRF by 5/6 nephrectomy in Sprague Dawley rats (100 g) and observed for 2 weeks comparing with sham-operated pair-fed control rats (Sham- C). CRF rats gained 30% less height than Sham- C rats (P10 kDa, containing IGFBPs) and low (<10 kDa, containing free IGF) molecular weight fractions using a gel filtration column. Both fractions obtained from CRF sera decreased the growth of control chondrocytes up to 40% compared with those from control sera. We suggest that the pathogenesis of growth failure in CRF may be involved in the increase of circulating IGFBP4 as well as the unidentified small molecular weight uremic serum factors which block the growth of chondrocytes in growth plate.

Serum growth hormone binding protein and liver growth hormone receptor in nephrotic rats with growth failure / 中华肾脏病杂志

Objective To investigate the effects of malnutrition, nephrosis itself and glucocorticoid therapy on serum growth hormone binding protein(GHBP) and liver growth hormone receptor(GHR), and elucidate the relationship between growth failure in nephrotic rats and serum GHBP or liver GHR. Methods Twenty-four male Sprague-Dawley(SD) rats were randomly divided into control, pair-fed, doxoruhincin-induced nephrotic (nephrotic) and dexamethasone-treated nephrotic (des-treated ) rats. Serum GHB P, GHB P- 1 and liver GHR were measured by dextran-coated charcoal technique, gel filtration and radioreceptor assay respectively. Results (1) Serum GHBP and liver GHR were reduced in nephrotic and des-treated rats compared with control and pair-fed rats, but no significant difference was found between control and pair-fed rats or between nephrotic and des-treated rats. (2)Serum GHBP-1 was lower in pair-fed rats, even lower in nephrotic rats and lowest in des-treated rats than in control. (3) There was some significantly positive correlations between nose-tail length or weight and serum GHBP or liver GHR. Conclusion GH resistance, due to decreasd liver GHR, is an important cause of growth failure induced by secondary malnutrition and nephrosis itself Glucocorticoid therapy deteriorates growth failure by further decreased hepatic GHR.