Growth retardation and its influencing factors in infants aged 0‒3 in Minhang District， Shanghai / 上海预防医学

ObjectiveTo investigate the detection rate and main influencing factors of growth retardation in infants aged 0-3 in Minhang District， and to provide relevant evidence for early intervention， nutrition promotion and health guidance in the future. MethodsFrom September 1， 2020 to August 31， 2021， the height， weight， basic information of parents， feeding methods， and lifestyle habits of infants who received systematic healthcare aged 0‒3 in community health service centers and Minhang maternal child health hospital were collected， and the current situation and influencing factors of infant growth retardation were analyzed. ResultsAmong the 68 637 infants who underwent a systematic physical examination in Minhang District， the total detection rate of growth retardation was 5.03% （3 453/68 637）. The detection rates in the 0-year-old， 1-year-old， 2-year-old， and 3-year-old groups were 6.57% （1 636/24 885）， 3.90% （664/17 031）， 4.62% （827/17 905）， and 3.72% （326/8 773）， respectively. There was no difference in the detection rate of growth retardation between boys and girls （P>0.05）， and a multinomial logistic regression analysis of 13 influencing factors （infant birth weight， birth length， parental weight， height， education level， mother’s childbearing age， delivery mode， household registration， feeding mode within 6 months， infant sleep， etc.） in univariate analysis showed that birth weight <2 500 g （OR=3.99， 95%CI： 2.809‒5.674） or ≥4 000 g （OR=12.78， 95%CI： 8.868‒18.443）， maternal height <150 cm （OR=7.10， 95%CI： 4.294‒11.753）， paternal height <160 cm （OR=5.65， 95%CI： 2.792‒11.422）， maternal education level of junior high school and below （OR=1.31， 95%CI： 1.087‒1.588）， paternal education level of junior high school and below （OR=1.02， 95%CI： 0.838‒1.236）， mixed feeding （OR=1.15， 95%CI： 1.031‒1.288）， and sleep duration exceeding the recommended time （OR=1.58， 95%CI： 1.466‒1.710） were risk factors for growth retardation in infants aged 0‒3. Infants with a birth length <50 cm or with household registration in Shanghai had a higher incidence of growth retardation. ConclusionGrowth retardation in infants aged 0‒3 is influenced by a combination of genetic， environmental， and sleep factors. It is essential for parents to realize the impact of growth retardation on the future of their children early on and actively participate in the early detection， screening， and intervention of growth retardation.

Persistencia del cavum septum pellucidum y cavum vergae asociado a retraso psicomotor. Informe de caso

Fundamento: Dos de las tres formas en que se presentan los quistes intracraneales de la línea media anterior son: cavum septum pellucidum y cavum vergae; estos normalmente desaparecen después del nacimiento, de persistir suelen ser asintomáticos, pero también pueden estar asociados a manifestaciones obstructivas, trastornos psicóticos o alteraciones del neurodesarrollo que demandan de un seguimiento clínico. Objetivo: Reportar el caso de un paciente de 6 meses con persistencia de estructuras del periodo embrionario en posible asociación con retraso del desarrollo psicomotor. Presentación de caso: Por lo infrecuente que resulta en la práctica, se informa el caso de un paciente de 6 meses con una persistencia del cavum septum pellucidum y cavum vergae en el que se destaca la posible asociación del retraso del neurodesarrollo a la persistencia de estas estructuras. El diagnóstico se realizó de forma precoz y se intervino oportunamente. Conclusiones: La presentación del caso aportó evidencias epidemiológicas que favorecen la posible asociación entre la persistencia de estas estructuras embrionarias y el retraso del desarrollo psicomotor.

Background: Two out of the three forms in which intracranial anterior midline cysts present are: These usually disappear after birth; if they persist, they are often asymptomatic, but may also be associated with obstructive manifestations, psychotic disorders or neurodevelopmental disorders that require clinical follow up. Objective: To report a case of a 6-month-old patient with persistence of embryonic period structures in possible association with psychomotor developmental retardation. Case presentation: Because of how infrequent it is in practice, a case of a 6-month-old patient with a persistent cavum septum pellucidum and cavum vergae is reported in which the possible association of neurodevelopmental delay with the persistence of these structures is pointed out. The diagnosis was made in an early manner and it was timely intervened. Conclusions: The case presentation provided epidemiological evidences that encourage the possible association among the persistence of these embryonic structures and psychomotor developmental retardation.

Associação entre as condições de nascimento e a densidade mineral óssea de adultos das coortes de nascimentos de 1982 e 1993 de Pelotas, Rio Grande do Sul, Brasil / Association between birth conditions and bone mineral density in adults from the 1982 and 1993 birth cohorts in Pelotas, Rio Grande do Sul State, Brazil / Asociación entre las condiciones de nacimiento y la densidad mineral ósea de adultos de las cohortes de nacimiento de 1982 y 1993 en Pelotas, Rio Grande do Sul, Brasil

Resumo: Este estudo avaliou a associação do peso ao nascer, idade gestacional e crescimento intrauterino com a densidade mineral óssea (DMO) aos 22 e 30 anos, nas coortes de nascimentos de 1982 e 1993 de Pelotas, Rio Grande do Sul, Brasil. A DMO foi medida por absorciometria por raios X com dupla energia (DXA), a associação foi avaliada usando análise de variância e a regressão linear múltipla para o controle de confundimento por: sexo, renda familiar ao nascer, tabagismo materno na gestação, escolaridade materna, cor da pele materna e índice de massa corporal pré-gestacional. Foi testado se a gordura corporal na vida adulta era mediadora da associação analisada, por meio da G-computation Formula. Foram avaliados 6.803 participantes das coortes de 1982 e 1993, aos 30 e 22 anos, respectivamente. O peso ao nascer teve associação com a DMO em todos os sítios, com maior diferença no colo femoral. Os nascidos com menos de 2.000g apresentaram, em média, -0,036g/cm2 (IC95%: -0,064; -0,008) de DMO no colo femoral em comparação àqueles com mais de 3.500g. Aqueles com escore-z de crescimento intrauterino com pelo menos 1,28 desvio padrão abaixo da média apresentaram, em média, -0,013g/cm2 (IC95%: -0,024; -0,002) de DMO na coluna lombar, em relação aos com escore-z acima da média. A análise de mediação mostrou que gordura corporal na idade adulta não mediou a associação. As condições de nascimento foram associadas com a densidade mineral óssea na vida adulta, e a identificação dos fatores precoces relacionados à perda de DMO é essencial devido à inversão demográfica em progresso em países de média e baixa renda.

Abstract: This study assessed the association of birth weight, gestational age, and intrauterine growth with bone mineral density (BMD) at 22 and 30 years of age in the 1982 and 1993 birth cohorts in Pelotas, Rio Grande do Sul State, Brazil. BMD was measured by dual-energy X-ray absorptiometry (DXA) and the association was assessed using analysis of variance. Multiple linear regression was used to control for confounding factors: sex; household income at birth; maternal smoking during pregnancy; maternal schooling; maternal ethnicity/skin color; and pre-pregnancy body mass index. The study tested whether body fat in adulthood was a mediator of the association analyzed, using the G-computation Formula. A total of 6,803 participants from the 1982 and 1993 cohorts were evaluated at 30 and 22 years of age, respectively. Birth weight was associated with BMD at all sites, with a greater difference at the femoral neck. Individuals born weighing less than 2,000g had on average -0.036g/cm2 (95%CI: -0.064; -0.008) of BMD in the femoral neck than individuals weighing more than 3,500g. Individuals with an intrauterine growth z-score at least 1.28 standard deviation below the mean had an average of -0.013g/cm2 (95%CI: -0.024; -0.002) of BMD in the lumbar spine compared with individuals with an above-average z-score. The mediation analysis showed that body fat in adulthood did not mediate the association. Birth conditions have been associated with BMD in adulthood and the identification of early factors related to bone loss is essential due to the demographic inversion that has been taking place in low- and middle-income countries.

Resumen: Este estudio evaluó la asociación del peso al nacer, la edad gestacional y el crecimiento intrauterino con la densidad mineral ósea (DMO) a los 22 y 30 años de edad, en las Cohortes de Nacimiento de 1982 y 1993 de Pelotas, Rio Grande do Sul, Brasil. La DMO se midió mediante absorciometría de rayos X de doble emisión (DXA), y la asociación se evaluó mediante ANOVA y regresión lineal múltiple para controlar la confusión por sexo, ingresos familiares al nacer, tabaquismo materno durante el embarazo, escolaridad materna, color de piel materno e índice de masa corporal antes del embarazo. Se comprobó si la grasa corporal en la edad adulta era un mediador de la asociación analizada, utilizando G-computation Formula. Se evaluaron 6.803 participantes de las cohortes 82 y 93, de 30 y 22 años, respectivamente. El peso al nacer se asoció con la DMO en todos los sitios, con la mayor diferencia en el cuello femoral. Los nacidos con un peso inferior a 2.000g tuvieron una media de -0,036g/cm2 (IC95%: -0,064; -0,008) de DMO en el cuello femoral, que aquellos con más de 3.500g. Aquellos con una puntuación z de crecimiento intrauterino de al menos 1,28 desviaciones estándar por debajo de la media presentaron un promedio de -0,013g/cm2 (IC95%: -0,024; -0,002) de DMO en la columna lumbar, con relación a aquellos con un puntaje z superior a la media. El análisis de mediación mostró que la grasa corporal en la edad adulta no medió la asociación. Las condiciones de nacimiento se asociaron con la DMO en la edad adulta, y la identificación temprana de factores relacionados con la pérdida de DMO es esencial debido a la inversión demográfica que ha estado ocurriendo en los países de ingresos medios y bajos.

Resultados perinatales del crecimiento intrauterino restringido. Cienfuegos, 2022

Fundamento: el crecimiento intrauterino restringido necesita un manejo intensivo prenatal para determinar el estado fetal y el tiempo del parto. Objetivo: describir los resultados perinatales del crecimiento intrauterino restringido. Métodos: estudio de serie de casos desarrollado en el Hospital de Cienfuegos, en el 2022. Se estudiaron las variables: tipo de crecimiento intrauterino retardado, resultados del ultrasonido Doppler en vasos maternos y fetales, enfermedades que complicaron el embarazo, tipo de parto, peso y tiempo gestacional al parto, resultados adversos perinatales. Se comparó la distribución de variables de importancia en la clínica con los resultados adversos perinatales. Resultados: el crecimiento restringido afectó al 4,7 % de los partos, el 25 % fue de inicio precoz; el 17,3 % presentó preeclampsia, el 41,3 % tuvo IPM ArUt >95 p. El 14,4 % de los fetos presentó alteraciones en los flujos del Doppler (ICP<5 p con 42 %); el 98 % tuvo crecimiento restringido grado I. El 19 % de las gestantes necesitó interrupción del embarazo en semana 34 o antes. Se realizó cesárea al 44,6 % y el 18,7 % de los recién nacidos vivos necesitó ingreso en UCIN; hubo tres muertes neonatales y dos muertes fetales tardías. Los resultados adversos perinatales fueron más frecuentes en fetos con ICP<5 p, el parto antes de las 34 semanas y el peso al nacer menor de 1500 g (p<0,05). Conclusiones: la alteración del índice cerebro placentario en el feto, nacer antes de las 34 semanas y peso inferior a 1500 g al nacer, eleva el riesgo adverso perinatal en los fetos/neonatos con crecimiento intrauterino restringido.

Foundation: restricted intrauterine growth requires intensive prenatal management to determine fetal status and delivery time. Objective: To describe the perinatal outcomes of restricted intrauterine growth. Methods: case series study developed at the Cienfuegos Hospital in 2022. The studied variables were: type of delayed intrauterine growth, results of Doppler ultrasound in maternal and fetal vessels, diseases that complicated the pregnancy, type of delivery, weight and gestational time to delivery, adverse perinatal outcomes. The distribution of clinically important variables was compared with adverse perinatal outcomes. Results: delayed growth affected 4.7% of births, 25% had early onset; 17.3% had preeclampsia, 41.3% had MPI ArUt >95 p. 14.4% of fetuses presented alterations in Doppler flows (ICP<5 p with 42%); 98% had restricted growth grade I. 19% of pregnant women needed termination of pregnancy at week 34 or before. A cesarean section was performed in 44.6% and 18.7% of live newborns required admission to the NICU; there were three neonatal deaths and two late fetal deaths. Adverse perinatal outcomes were more frequent in fetuses with ICP<5 p, delivery before 34 weeks and birth weight less than 1500 g (p<0.05). Conclusions: the alteration of the cerebroplacental index in the fetus, birth before 34 weeks and weight less than 1500 g at birth, increases the adverse perinatal risk in fetuses/neonates with restricted intrauterine growth.

La suplementación con zinc favorece el crecimiento intrauterino en fetos de ratas diabéticas / Zinc supplementation favours intrauterine growth in diabetic rat fetuses

La deficiencia de zinc puede ser un factor mediador en los trastornos del crecimiento fetal en la descendencia de la gestante diabética. Se persiguió como objetivo determinar la influencia de un suplemento con zinc sobre la morfometría externa corporal y craneofacial en fetos de ratas diabéticas con hiperglucemias moderadas. Durante la gestación, ratas diabéticas y controles fueron suplementadas por vía oral con sulfato de zinc (50 mg/kg-pc) o no recibieron tratamiento. Los fetos descendientes del grupo diabético suplementado presentaron niveles similares a los controles en las variables de crecimiento somático determinadas. La suplementación con zinc a ratas diabéticas favoreció el crecimiento intrauterino en los fetos. Los resultados de esta investigación constituyen aportes para dilucidar los requerimientos de zinc que permitan prevenir los trastornos del crecimiento fetal en la descendencia de gestantes diabéticas.

Zinc deficiency may be a mediating factor in fetal growth disorders in the offspring of diabetic pregnant women. The objective was to determine the influence of a zinc supplement on external body and craniofacial morphometry in diabetic rat fetuses with moderate hyperglycemia. During gestation, diabetic and control rats were orally supplemented with zinc sulphate (50 mg/kg bw) or received no treatment. The fetuses descendants of the supplemented diabetic group had levels similar to the control ones in the determined somatic growth variables. Zinc supplementation to diabetic rats favoured intrauterine growth in fetuses. The results of this research constitute a contribution to elucidate zinc requirements that allow preventing fetal growth disorders in the offspring of diabetic pregnant women.

Fragile X Syndrome in children

Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities. The physical and neurologic manifestations of the disease appear early in life and may suggest the diagnosis. However, it must be confirmed by molecular tests. It affects multiple areas of daily living and greatly burdens the affected individuals and their families. Fragile X syndrome is the most common monogenic cause of intellectual disability and autism spectrum disorder; the diagnosis should be suspected in every patient with neurodevelopmental delay. Early interventions could improve the functional prognosis of patients with Fragile X syndrome, significantly impacting their quality of life and daily functioning. Therefore, healthcare for children with Fragile X syndrome should include a multidisciplinary approach.

El síndrome de X frágil es causado por la expansión de tripletas CGG en el gen FMR1, el cual genera cambios epigenéticos que silencian su expresión. La ausencia de la proteína codificada por este gen, la FMRP, causa disfunción celular, llevando a deficiencia en el desarrollo cerebral y anormalidades funcionales. Las manifestaciones físicas y neurológicas de la enfermedad aparecen en edades tempranas y pueden sugerir el diagnóstico. Sin embargo, este debe ser confirmado por pruebas moleculares. El síndrome afecta múltiples aspectos de la vida diaria y representa una alta carga para los individuos afectados y para sus familias. El síndrome de C frágil es la causa monogénica más común de discapacidad intelectual y trastornos del espectro autista; por ende, el diagnóstico debe sospecharse en todo paciente con retraso del neurodesarrollo. Intervenciones tempranas podrían mejorar el pronóstico funcional de pacientes con síndrome de X frágil, impactando significativamente su calidad de vida y funcionamiento. Por lo tanto, la atención en salud de niños con síndrome de X frágil debe incluir un abordaje multidisciplinario.

Prediction of Perinatal and Neurodevelopmental Outcomes in Newborns with a Birth Weight below the 3rd Percentile: Performance of Two International Curves - Prospective Cohort from a Brazilian City / Predição de resultados perinatais e de neurodesenvolvimento em recém-nascidos com peso ao nascer abaixo do percentil 3: Desempenho de duas curvas internacionais - coorte prospectiva de uma cidade brasileira

Abstract Objectives To evaluate the performance of Intergrowth-21 st (INT) and Fetal Medicine Foundation (FMF) curves in predicting perinatal and neurodevelopmental outcomes in newborns weighing below the 3rd percentile. Methods Pregnant women with a single fetus aged less than 20 weeks from a general population in non-hospital health units were included. Their children were evaluated at birth and in the second or third years of life. Newborns (NB) had their weight percentiles calculated for both curves. Sensitivity, specificity, positive (PPV) and negative predictive value (NPV), and area under the ROC curve (ROC-AUC) for perinatal outcomes and neurodevelopmental delay were calculated using birth weight < 3rd percentile as the cutoff. Results A total of 967 children were evaluated. Gestational age at birth was 39.3 (± 3.6) weeks and birth weight was 3,215.0 (± 588.0) g. INT and FMF classified 19 (2.4%) and 49 (5.7%) newborns below the 3rd percentile, respectively. The prevalence of preterm birth, tracheal intubation >24 hours in the first three months of life, 5th minute Apgar <7, admission to a neonatal care unit (NICU admission), cesarean section rate, and the neurodevelopmental delay was 9.3%, 3.3%, 1.3%, 5.9%, 38.9%, and 7.3% respectively. In general, the 3rd percentile of both curves showed low sensitivity and PPV and high specificity and NPV. The 3rd percentile of FMF showed superior sensitivity for preterm birth, NICU admission, and cesarean section rate. INT was more specific for all outcomes and presented a higher PPV for the neurodevelopmental delay. However, except for a slight difference in the prediction of preterm birth in favor of INT, the ROC curves showed no differences in the prediction of perinatal and neurodevelopmental outcomes. Conclusion Birth weight below the 3rd percentile according to INT or FMF alone was insufficient for a good diagnostic performance of perinatal and neurodevelopmental outcomes. The analyzes performed could not show that one curve is better than the other in our population. INT may have an advantage in resource contingency scenarios as it discriminates fewer NB below the 3rd percentile without increasing adverse outcomes.

Resumo Objetivos Avaliar o desempenho das curvas de Intergrowth-21 st (INT) e Fetal Medicine Foundation (FMF) na predição de resultados perinatais e de neurodesenvolvimento de recém-nascidos com peso abaixo do percentil 3. Métodos Foram incluídas gestantes de feto único com idade inferior a 20 semanas de uma população geral em unidades de saúde não hospitalares. Seus filhos foram avaliados ao nascimento e no segundo ou terceiro anos de vida. Os recém-nascidos tiveram seus percentis de peso calculados para ambas as curvas. Sensibilidade, especificidade, valor preditivo positivo (VPP) e negativo (VPN) e área sob a curva ROC (ROC-AUC) foram calculados para desfechos perinatais e atraso de neurodesenvolvimento considerando o peso ao nascimento menor que o percentil 3 como ponto de corte. Resultados Um total de 967 crianças foram avaliadas ao nascimento e no segundo ou terceiro anos de vida. A idade gestacional ao nascer foi de 39,3 (±3,6) semanas e o peso ao nascimento foi de 3.215,0 (±588,0) g. INT e FMF classificaram 19 (2,4%) e49 (5,7%) recém-nascidos abaixo do percentil 3, respectivamente. A prevalência de parto prétermo, intubação traqueal > 24 horas nos primeiros três meses de vida, Apgar de 5° minuto < 7, internação em unidade de terapia intensiva neonatal (internação em UTIN), taxa de cesariana e atraso de neurodesenvolvimento foi 9,3%, 3,3%, 1,3%, 5,9%, 38,9% e 7,3% respectivamente. Em geral, o percentil 3 de ambas as curvas apresentou baixa sensibilidade e VPP e alta especificidade e VPN. O percentil 3 de FMF mostrou sensibilidade superior para parto prematuro, internação em UTIN e taxa de cesariana. INT foi mais específico para todos os desfechos e apresentou maior VPP para o atraso do neurodesenvolvimento. Entretanto, exceto por uma pequena diferença na predição de parto pré-termo em favor de INT, as curvas ROC não mostraram diferenças na predição de resultados perinatais e de desenvolvimento neurológico. Conclusão O peso ao nascer abaixo do percentil 3 segundo INT ou FMF isoladamente foi insuficiente para um bom desempenho diagnóstico de desfechos perinatais e de neurodesenvolvimento. As análises realizadas não puderam mostrar que uma curva é melhor que a outra em nossa população. INT pode ter vantagem em cenários de contingência de recursos, pois discrimina menos recém-nascidos abaixo do percentil 3 sem aumentar os desfechos adversos.

A Rare Case of Congenital Hypothyroidism

Congenital Hypothyroidism (CH) is a common preventable cause of mental retardation. The incidence of CH is 1 in 2500 to 1 in 3000 newborns. Most common causes are thyroid dysgenesis and dyshormonogenesis. Some disorder like maternal autoantibodies, maternal intake of anti thyroid medication, iodine deficiency or iodine excess can result in transient CH. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. In this case report, A 3 day old baby was admitted to SNCU with chief complain of yellowish discoloration upto abdomen and respiratory distress. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born.

Correlation of psychomotor retardation with plasma G-CSF and M-CSF levels in patients with major depressive disorder / 四川精神卫生

BackgroundThe etiopathogenesis of major depressive disorder （MDD） is strongly associated with neuroinflammation. MDD is a highly heterogeneous psychiatric disorder， and the disease subtyping is an essential step for the identification of biological markers. The presence of psychomotor retardation seriously affects the prognosis of MDD， whereas the underlying mechanism is not yet completely clear. A potential involvement of granulocyte colony-stimulating factor （G-CSF） and macrophage colony-stimulating factor （M-CSF） in the pathogenesis of MDD with psychomotor retardation has been suggested in previous studies， but little detailed research has been completed. ObjectiveTo analyze the correlation of plasma G-CSF and M-CSF levels with psychomotor retardation in patients with MDD， and to explore the potential biological underpinnings of psychomotor retardation in MDD. MethodsA total of 50 MDD patients who met the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders， fifth edition （DSM-5） and attended the outpatient clinics of Shanghai Mental Health Center from April 2018 to April 2019 were included. The severity of symptoms was assessed using the Hamilton Depression Scale-17 item （HAMD-17）. According to the retardation factor in HAMD-17， patients with a score of ≥8 were included in retardation group （n=22）， and those with a score below 8 were included in non-retardation group （n=28）. Another 22 age- and sex-matched healthy controls were concurrently recruited. Plasma G-CSF and M-CSF levels were measured in all subjects using Luminex liquid suspension chip technology. Spearman correlation analysis was adopted to verify the correlation of retardation factor score in HAMD-17 with plasma G-CSF and M-CSF levels in MDD patients. ResultsPlasma G-CSF levels were decreased in MDD patients compared with healthy controls ［57.34（39.24， 83.15）pg/mL vs. 71.47（61.20， 79.99）pg/mL， Z=-2.098， P<0.05］. A statistical difference was found in plasma G-CSF level ［63.92（54.60， 89.43）pg/mL vs. 47.80（33.41， 74.66）pg/mL vs. 71.47（61.20， 79.99）pg/mL， H=8.247， P=0.016］ and plasma M-CSF level ［20.05（16.05， 22.23）pg/mL vs. 13.05（11.43， 17.50）pg/mL vs. 18.95（14.59， 22.88）pg/mL， H=7.620， P=0.022］ among retardation group， non-retardation group and healthy control group. The post hoc pairwise comparisons using Bonferroni correction indicated that plasma G-CSF level was lower in non-retardation group compared with healthy control group （adjusted P<0.05）， and plasma M-CSF level was higher in retardation group compared with non-retardation group （adjusted P<0.05）. The retardation factor score in HAMD-17 was positively correlated with plasma M-CSF level in MDD patients （r=0.348， P<0.05）. ConclusionThe prevalence of psychomotor retardation in MDD patients may be related to abnormally elevated plasma M-CSF level. ［Funded by Shanghai "Science and Technology Innovation Action Plan" Project in Medical Innovation Research Field （number， 21Y11905600）； Shanghai "Science and Technology Innovation Action Plan" Project in Natural Science Field （number， 21ZR1455100）； Shanghai Mental Health Center Scientific Research Project （number， 2021-YJ02）］

Nutritional status and its influencing factors in children with newly diagnosed inflammatory bowel disease / 中国当代儿科杂志

OBJECTIVES@#To investigate the nutritional status and its influencing factors in children with newly diagnosed inflammatory bowel disease (IBD).@*METHODS@#A retrospective analysis was conducted on the clinical data of children who were diagnosed with IBD for the first time in Hunan Children's Hospital from January 2015 to December 2021. Diagnostic delay was defined as the time from the symptom onset to IBD diagnosis being in the upper quartile (P76-P100) of all IBD children in the study. Multivariate logistic regression analysis was used to explore the risk factors for emaciation and growth retardation.@*RESULTS@#A total of 125 children with newly diagnosed IBD were included, with Crohn's disease being the main type (91.2%). The rates of emaciation and growth retardation were 42.4% (53 cases) and 7.2% (9 cases), respectively, and the rate of anemia was 77.6% (97 cases). Diagnostic delay was noted in 31 children (24.8%), with the time from the symptom onset to IBD diagnosis of 366 to 7 211 days. Multivariate logistic regression analysis showed that diagnostic delay was a risk factor for emaciation and growth retardation (OR=2.73 and OR=4.42, respectively; P<0.05) and that age was positively associated with emaciation (OR=1.30, P<0.05).@*CONCLUSIONS@#Children with newly diagnosed IBD have poor nutritional status, and the rates of anemia, emaciation, and growth retardation are high. Diagnostic delay is associated with malnutrition in children with IBD.

Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review / 中国当代儿科杂志

OBJECTIVES@#To summarize the clinical phenotype and genetic characteristics of children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations.@*METHODS@#A retrospective analysis was performed on the medical data of 8 children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations who were diagnosed and treated in the Department of Pediatrics, Xiangya Hospital of Central South University.@*RESULTS@#The mean age of onset was 9 months for the 8 children. All children had moderate-to-severe developmental delay (especially delayed language development), among whom 7 children also had seizures. Among these 8 children, 7 had novel heterozygous mutations (3 with frameshift mutations, 2 with nonsense mutations, and 2 with missense mutations) and 1 had 6p21.3 microdeletion. According to the literature review, there were 48 Chinese children with mental retardation caused by SYNGAP1 gene mutations (including the children in this study), among whom 40 had seizures, and the mean age of onset of seizures was 31.4 months. Frameshift mutations (15/48, 31%) and nonsense mutations (19/48, 40%) were relatively common in these children. In terms of treatment, among the 33 children with a history of epileptic medication, 28 (28/33, 85%) showed response to valproic acid antiepileptic treatment and 16 (16/33, 48%) achieved complete seizure control after valproic acid monotherapy or combined therapy.@*CONCLUSIONS@#Children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations tend to have an early age of onset, and most of them are accompanied by seizures. These children mainly have frameshift and nonsense mutations. Valproic acid is effective for the treatment of seizures in most children.

Effect of CYFIP2 overexpression on biological function and Wnt/β-catenin signaling pathway of bladder cancer cell line T24 / 国际生物医学工程杂志

Objective:To investigate the effects of cytoplasmic fragile X mental retardation protein 1 binding protein 2 (CYFIP2) overexpression on the biological functions and Wnt/β-catenin signaling pathways of bladder cancer T24 cells.Methods:The control group was T24 cells transfected with the empty pcDNA3 vector, and the overexpression group was T24 cells transfected with the CYFIP2 overexpression vector. The expression of CYFIP2 mRNA and protein was detected by reverse transcriptase, quantitative polymerase chain reaction, and Western Blot. The effect of CYFIP2 overexpression on T24 cell proliferation was detected by CCK-8. The effect of CYFIP2 overexpression on T24 cell migration and invasion was detected by Transwell. The effects of CYFIP2 overexpression on Wnt/β-catenin signaling pathway in T24 cells were detected by Western Blot.Results:Compared with the control group, the expression levels of CYFIP2 mRNA and protein were increased in the overexpression group (all P < 0.001), and the cell proliferation, migration, and invasion abilities were reduced (all P < 0.01). β-catenin, c-Myc, and Cyclin D1 protein expression were down-regulated in CYFIP2 overexpressed T24 cells (all P < 0.05), while the protein levels of p-β-catenin were increased ( P < 0.05). Conclusions:CYFIP2 overexpression can inhibit T24 cell proliferation, migration, and invasion, and its possible molecular mechanism is related to the inhibition of Wnt/β-catenin signaling pathway.

Transcutaneous electrical acupoint stimulation based on electro-oculogram signal regulation for children with mental retardation: a randomized controlled trial / 中国针灸

OBJECTIVE@#To observe the clinical efficacy of transcutaneous electrical acupoint stimulation (TEAS) at Changqiang (GV 1) based on the modulation of electro-oculogram (EOG) signal for children with mental retardation, and explore the evaluation effect of the goal attainment scale (GAS) in children with mental retardation.@*METHODS@#Sixty children with mental retardation were randomly divided into a treatment group and a control group, with 30 cases in each one. The children in the control group were treated with conventional rehabilitation, 5 times a week. On the basis of the control group, TEAS at Changqiang (GV 1) under the modulation of EOG signal was adopted in the treatment group. When the similarity between the collected EOG signal and the template was within the range of EOG threshold, one electric stimulation was triggered at Changqiang (GV 1) for 20 s (continuous wave, 70-100 Hz in frequency, 0.1-0.2 ms in pulse width), lasting 30 min in each treatment, the intervention was given twice a week. One course of treatment was composed of 4 weeks, and 3 courses were required in total in the two groups. The infant-junior high school student's social living ability scale (S-M) and GAS were scored and compared before and after treatment in the two groups.@*RESULTS@#After treatment, the scores of self-living ability in the treatment group and communication ability in the control group were higher than those before treatment (P<0.01, P<0.05). The scores of collective activity and motor ability in the treatment group were higher than those in the control group (P<0.05). After treatment, GAS scores were higher than before treatment in both groups (P<0.001), and the score in the treatment group was higher than the control group (P<0.05).@*CONCLUSION@#TEAS under the modulation of EOG signal is conductive to improving the collective, motor and self-living abilities of the children with mental retardation and promoting children's individual goals. Compared with the standard score of S-M, the T value of GAS can better reflect the subtle progress of individual.

Current status and prospect of pravastatin in pregnancy / 中华围产医学杂志

Cholesterol-lowing statins such as pravastatin have been contraindicated in pregnant women for a long time, but recent clinical evidence has demonstrated its safety. Studies have found that pravastatin can correct the imbalance in angiogenesis, reduce vascular inflammation and improve the conditions in patients with placental and maternal vascular dysfunction-related diseases, such as preeclampsia, fetal growth restriction and antiphospholipid syndrome. However, universal administration of pravastatin in pregnancy still requires more evidence on its safety from human clinical trials with larger sample sizes. This article reviews the current situation and prospect of pravastatin in pregnancy.

Massive subchorionic thrombohematoma at umbilical cord insertion: a case report / 中华围产医学杂志

This article reported the management and outcome of a pregnant woman diagnosed with massive subchorionic thrombohematoma at the umbilical cord insertion. The patient was found to have a large placental hematoma below the insertion site of the umbilical cord at 28 weeks of gestation by ultrasound and MRI. Fetal growth and the condition of the placenta were closely monitored thereafter. The patient was delivered with good maternal and infant outcomes through emergency cesarean section at 33 +5 weeks of gestation due to a significantly enlarged hematoma with abnormal umbilical blood flow.

Effects of selective feticide by radiofrequency ablation and risk factors for prognosis in 75 twins complicated by selective intrauterine growth restriction / 中华围产医学杂志

Objective:To analyze the effects of selective feticide by radiofrequency ablation (RFA) and the risk factors for adverse pregnancy outcomes in twins complicated by selective intrauterine growth restriction (sIUGR) and evaluate the neurodevelopment in live births during a short-term follow-up.Methods:This study retrospectively enrolled 75 twins with sIUGR who underwent RFA for selective feticide and were delivered in the First Affiliated Hospital of Sun Yat-sen University between January 1, 2017 and March 31, 2022. According to the gestational age at the procedure, they were divided into three groups including 16-19 +6 weeks of gestation (Group A, n=16), 20-23 +6 weeks of gestation (Group B, n=44) and ≥24 weeks of gestation (Group C, n=15). They were also grouped according to the presence or absence of twin-twin transfusion syndrome (TTTS): sIUGR with TTTS group ( n=36) and isolated sIUGR group ( n=39). The 39 cases in the isolated sIUGR group were further divided into three groups according to the Doppler flow in the smaller co-twin: type Ⅰ ( n=3), type Ⅱ ( n=27) and type Ⅲ ( n=9). According to pregnancy outcomes, the 75 cases were divided into adverse pregnancy outcome group ( n=49) and non-adverse pregnancy outcome group ( n=26). Statistical analysis was performed using two independent sample t-test, one-way analysis of variance and LSD test, nonparametric test and Nemenyi test, as well as Chi-square test and Fisher's exact test to compare the difference in clinical characteristics and perinatal outcomes among groups. Kaplan-Meier survival curves and Log-rank test were used to analyze the duration of pregnancy after the procedure. Univariate logistic regression analysis was used to identify the risk factors for adverse pregnancy outcomes. Results:(1) The gestational age at the time of procedure was (21.9±2.3) weeks (16.6-26.0 weeks) for all cases. The intertwin estimated fetal weight discordance (ΔEFW) was less and the duration of RFA was shorter in group A than in group B or C [(27.8±8.4)% vs (36.2±12.0)% and (39.8±15.5)%; 7 min (5-14 min) vs 10 min (5-16 min) and 12 min (8-18 min); LSD test or Nemenyi test, P<0.017]. The incidence of TTTS was higher in group A than in group B or C [12/16 vs 43% (19/44) and 5/15; Bonferroni correction, P<0.017]. There was no significant difference in the incidence of premature rupture of membrane, spontaneous abortion, fetal demise, premature delivery and gestational age at delivery between Group A, B and C (all P>0.05). (2) Compared with the isolated sIUGR group, the sIUGR with TTTS group showed less ΔEFW [(29.6±11.4)% vs (40.1±11.8)%, t=3.88, P<0.001], higher incidence of premature rupture of membrane [47% (17/36) vs 21% (8/39), χ2=6.01, P=0.014], lower rate of live births [69% (25/36) vs 95%(37/39), χ2=8.45, P=0.004] and earlier delivery [34.1 weeks (26.7-40.7 weeks) vs 38.0 weeks (29.3-40.0 weeks), Z=311.50, P=0.018]. (3) There was no significant difference in the incidence of premature rupture of membrane, live birth rate or 30-day survival rate among the sIUGR type Ⅰ, Ⅱ and Ⅲ groups (all P>0.05). (4) sIUGR complicated by TTTS was a risk factor for adverse pregnancy outcomes of the co-twin after the procedure ( OR=3.94, 95% CI: 1.40-11.10, P=0.010). (5) Thirteen co-twins presented with cardiac enlargement, myocardial hypertrophy or/and tricuspid regurgitation in routine ultrasound scans before the procedure and nine of them had TTTS. Among them, eight live births were followed up for one month to 4.5 years of age and no abnormality in cardiac function was reported. (6) There were overall 62 live births. Apart from two cases of neonatal death and four lost to follow-up, the other 56 cases were followed up to one month to 5 years of age and two premature infants showed gross motor retardation. Conclusions:The gestational age at RFA has no significant impact on pregnancy outcomes, while sIUGR complicated by TTTS may increase the risk of adverse outcomes after the procedure. After RFA, the overall survival rate of the co-twin in pregnancies with sIUGR is high and no severe neurodevelopmental abnormalities has been found during a short-term follow-up.

Family report of Wolf-Hirschhorn syndrome in twins / 中华神经科杂志

Objective:To explore the clinical manifestations and genetic characteristics of Wolf-Hirschhorn syndrome (WHS) to improve the ability of diagnosis and differential diagnosis of the disease.Methods:The clinical features and auxiliary examinations and treatment of a proband with WHS caused by microdeletion of 4p16.3 segment who admitted to the Third Affiliated Hospital of Zhengzhou University in December 2021 were recorded, and whole exome sequencing (WES) of the family was performed. The prognosis was followed up.Results:The female proband, 11 months old, presented with convulsions at the age of 8 months, with the characteristics of heat sensitivity and cluster seizures, and her identical twin sister had a similar medical history. Physical examination found malnutrition, retarded development, special face, prominent forehead, wide nasal bridge, small jaw, precordial murmur and grade 3/6 murmur in the whole period, hyperactivity of P2, and low limb muscle tone. The whole exon and copy number variation (CNV) test of the family revealed that the proband had a 1.99 Mb heterozygous deletion in the chromosome 4p16.3 segment, including WHSC1 (NSD2), WHSC2 (NEFLA) and other genes. Copy number variation sequencing (CNV-Seq) of the proband and her sister showed 1.97 and 1.92 Mb heterozygous deletion of chromosome 4p16.3, respectively. Genealogical analysis by quantitative polymerase chain reaction revealed that the CNV was de novo, and it was determined to be a pathogenic variant according to the American College of Medical Genetics and Genomics guidelines. The proband took sodium valproate orally, and her sister took oral sodium valproate, zonisamide, and levetiracetam successively, and at the same time they received family rehabilitation training. The age at the last follow-up was 1 year and 8 months. Neither of them had convulsions again in the past 3 months, but the developmental delay was obvious. Conclusion:WHS patients may present with growth retardation, epilepsy, Greek warrior helmet-like special face, and congenital heart disease, and may have microdeletions in the chromosome 4p16.3 segment.

Risk factors of extrauterine growth retardation in very preterm infants with birth weight less than 1 500 g / 中国新生儿科杂志

Objective:To study the risk factors of extrauterine growth retardation (EUGR) during hospitalization in very preterm infants (VPIs) with birth weight (BW) <1 500 g.Methods:From Jan 2015 to Dec 2020, clinical data of VPIs admitted to neonatal department our hospital were retrospectively studied. The infants were assigned into EUGR group and non-EUGR group according to their weight at discharge. Multivariate logistic regression analysis was used to analyze the risk factors of EUGR in VPIs.Results:A total of 969 VPIs were enrolled, including 400 cases of EUGR (41.3%). Multivariate logistic regression analysis showed that Z-score of BW ( OR=0.057, 95% CI 0.037-0.088, P<0.001) was closely correlated with the occurrence of EUGR and growth velocity (GV) after regain BW ( OR=0.537, 95% CI 0.479-0.602, P<0.001) was a protective factor for EUGR. Maternal hypertension during pregnancy ( OR=1.895, 95% CI 1.059-3.394, P=0.031), asphyxia at birth ( OR=2.508, 95% CI 1.265-3.347, P=0.004) and moderate to severe bronchopulmonary dysplasia (BPD) ( OR=2.660, 95% CI 1.503-4.708, P=0.001) were risk factors for EUGR at discharge. Conclusions:EUGR is still common in VPIs. Increased GV after regain BW, prevention and treatment of moderate to severe BPD may reduce the incidence of EUGR at discharge in VPIs.

SSBP1 mutation-induced autosomal dominant optic atrophy with chronic renal insufficiency: a case report and literature review / 中华实用儿科临床杂志

The data of a patient with autosomal dominant optic atrophy (ADOA) and chronic renal insufficiency caused by SSBP1 gene mutation in the Children′s Hospital Affiliated to Zhengzhou University in July 2021 was analyzed retrospectively.Literature was reviewed.The patient was a 10-year-old girl, who visited the hospital due to " growth retardation for the past 3 years and elevated serum creatinine (Scr) for the past 2 years" . On admission, the patient′s height was 130 cm (<10 th percentile of the same sex of healthy age) and her weight was 22 kg (<3 rd precentile of the same sex of healthy age). Lab examination showed that the level of blood urea nitrogen (BUN) was 16.3 mmol/L, Scr was 115.4 μmol/L, and the estimated glomerular filtration rate was 41 mL/(min·1.73 m 2). The patient was complicated with metabolic acidosis and mild anemia.Imaging findings showed small volume of both kidneys, increased background parenchymal enhancement, scattered spot-like hyperechoes and unclear boundary between the cortex and medulla.Additionally, the patient had a history of optic atrophy.Both the father and mother of the patient had no related phenotypes.The genetic test of the patient showed that c. 320G>A (p.R107Q) was a heterozygous missense mutation, which was spontaneous.A total of 5 English papers were retrieved.There were 8 kinds of SSBP1 gene mutations reported, including 7 heterozygous missense mutations [c.320G>A (p.Arg107Gln), c.119G>T (p.Gly40Val), c.331G>C (p.Glu111Gln), c.184A>G (p.Asn62Asp), c.113G>A (p.Arg38Gln), c.422G>A (p.Ser141Asn), c.79G>A (p.Glu27Lys)] and 1 homozygous mutation [c.394A>G (p.Ile132Val)]. Studies have established that almost all patients carrying SSBP1 mutations have manifestations of eye involvement, and that some patients are complicated with progressive deterioration of renal function, sensorineural deafness, growth retardation, and hypothyroidism.It suggests that SSBP1 gene mutation can cause ADOA.For patients with optic atrophy, whether they are complicated with hearing loss and growth retardation, renal morphology and renal function evaluation are recommended.Early genetic examination is helpful for diagnosis and treatment.

Characteristics of neuropsychological development in infants with different types of morphological cranial malformation / 中国康复理论与实践

ObjectiveTo compare the neuropsychological development of infants with different types of morphologic cranial deformities. MethodsA total of 954 children aged 0 to 18 months who came to Beijing Children's Hospital from January, 2020 to August, 2021 for cranial measurement and neuropsychological development measurement were selected. They were divided into brachycephaly group, plagiocephaly group, asymmetric brachycephaly group, scaphocephaly group and normal group according to the cranial measurement. The development quotient (DQ) was calculated from Children Neuropsychological Development Scale (0-6). ResultsThere were 449 cases in the normal group, 94 cases in the brachycephaly group, 201 cases in the plagiocephaly group, 82 cases in the asymmetric brachycephaly group and 128 cases in the scaphocephaly group. The detection rate of Developmental Edge and Delay (DQ < 85) for gross motor area was the most in brachycephaly group (60.6%), and it was the most for fine motor (64.6%), language (45.1%), adaption (51.2%) and social behavior areas (48.8%) in the asymmetrical brachycephaly group. The DQ was different among the five groups for all the areas except the language area (F > 14.835, P < 0.001); compared with the normal group, DQ decreased for all the four areas in all the groups except the scaphocephaly group; DQ of the areas of gross motor, fine motor and adaption was more in the plagiocephaly group than in the asymmetric brachycephaly group (P < 0.05), while DQ of the areas of gross motor and fine motor was more in the plagiocephaly group than in the brachycephaly group (P < 0.05). Linear regression analysis showed that, DQ negative linear correlated with the cephalic ratio and cranial vault asymmetry index (|B| > 0.967, P < 0.05). ConclusionAmong four kinds of cranial malformation in infants, the neuropsychological development of the scaphocephaly group is almost normal, and somehow delays for brachycephaly, plagiocephaly and asymmetric brachycephaly, especially in the aspects of gross motor, fine motor, adaption and social behavior. The more serious the cranial deformity, the greater the risk of developmental delay in each functional area.