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BACKGROUND: Current vital statistics of birth population and neonatal outcome in China lacked information and definition of deaths at delivery and during hospitalization, especially for extreme preterm (EPT) birth. This study aims to delineate the prevalence of neonatal hospitalization, neonatal and infant mortality rates (NMR, IMR) and associated perinatal risks based on all livebirths in Huai'an, an evolving sub-provincial region in eastern China. METHODS: This retrospective cohort study established a comprehensive database linking information of whole regional livebirths and neonatal hospitalization in 2015, including deaths at delivery and EPT livebirths. The primary outcomes were NMR and IMR stratified by gestational age (GA) and birthweight (BW) with 95% confidence intervals. Causes of the neonatal and infant deaths were categorized according to the International Statistical Classification of Diseases 10th version, and population attributable fractions of GA and BW strata were analyzed. Perinatal risks of infant mortalities in continuum periods were estimated by Cox regression models. RESULTS: Among the whole livebirth population (59056), 7960 were hospitalized (prevalence 13.5%), with 168 (2.8) in-hospital deaths. The NMR was 3.6 (3.2, 4.1) and IMR 4.9 (1.4, 4.5), with additionally 35 (0.6) deaths at delivery. The major causes of infant deaths were perinatal conditions (2.6, mainly preterm-related), congenital anomalies (1.5), sudden unexpected death in infancy (0.6) and other causes (0.2). The deaths caused by preterm and low BW (LBW) accounted for 50% and 40% of NMR and IMR, with 20-30% contributed by EPT or extremely LBW, respectively. Multivariable Cox regression analysis revealed that peripartum factors and LBW strata had strong association with early- and late-neonatal deaths, whereas those of GA < 28 weeks were highly associated with postneonatal deaths. Congenital anomalies and neonatal hospitalization remained high death risks over the entire infancy, whereas maternal co-morbidities/complications were modestly associated with neonatal but not postneonatal infant mortality. CONCLUSIONS: The NMR, IMR, major causes of deaths and associated perinatal risks in continuum periods of infancy, denote the status and quality improvement of the regional perinatal-neonatal care associated with socioeconomic development. The study concept, applicability and representativeness may be validated in other evolving regions or countries for genuine comparison and better maternal-infant healthcare.
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Muerte del Lactante , Mortalidad Infantil , Peso al Nacer , China/epidemiología , Estudios de Cohortes , Femenino , Humanos , Lactante , Recién Nacido , Embarazo , Estudios RetrospectivosRESUMEN
BACKGROUND: To explore the prevalence, outcome and perinatal risks of neonatal hypoxemic respiratory failure (NRF) in a survey of all livebirths from a regional network of perinatal-neonatal care during the transition period after 5-year universal health insurance implemented in China. METHODS: Clinical data of all neonatal respiratory morbidities in Huai'an were retrospectively collected in the regional perinatal network database of all livebirths as vital statistics in 2015. NRF was defined as hypoxemia requiring continuous positive airway pressure (CPAP) and/or mechanical ventilation (MV) for at least 24 h. Mortality risks of antenatal and perinatal morbidities, major respiratory therapies and complications were analyzed by multivariable logistic regression model. RESULTS: There were 788 NRF cases identified in 9.9% (7960) hospitalized, or 13.3 (59056) livebirths, in which 6.7% received intensive care and 93.0% critical care. The major underlying morbidities were respiratory distress syndrome (RDS, 36.4%) and pneumonia/sepsis (35.3%), treated mainly by CPAP, MV and surfactant. Significantly improved outcomes by surfactant in RDS were in patients with birthweight (BW) < 1500 g or gestational age (GA) < 32 weeks. The overall mortality rate in NRF was 18.4% whereas for those of BW < 1000 g and GA < 28 weeks, 70% and 54%, respectively. The multivariable regression analysis showed the highest odds for NRF death among meconium aspiration syndrome, congenital anomalies, BW < 1500 g and necrotizing enterocolitis, whereas born in level III hospitals, cesarean delivery, CPAP and MV were associated with markedly reduced death odds. CONCLUSIONS: The salient findings with associated risk estimates reflected efficiency of respiratory support as critical care in a prefectural regional network infrastructure for annual livebirths in 5.6 million inhabitants. It implicated the representativeness of contemporaneous perinatal-neonatal care standard at medium to medium-high level, in one/fourth of the population of China, aiming at saving more life of very critical and preterm infants for better survival.
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Enfermedades del Recién Nacido , Síndrome de Aspiración de Meconio , Surfactantes Pulmonares , Síndrome de Dificultad Respiratoria del Recién Nacido , Insuficiencia Respiratoria , Peso al Nacer , Femenino , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Embarazo , Surfactantes Pulmonares/uso terapéutico , Síndrome de Dificultad Respiratoria del Recién Nacido/tratamiento farmacológico , Síndrome de Dificultad Respiratoria del Recién Nacido/terapia , Insuficiencia Respiratoria/tratamiento farmacológico , Estudios Retrospectivos , Tensoactivos/uso terapéuticoRESUMEN
OBJECTIVE: To analyze the incidence, trends and related factors of birth defects in Huai'an from 2008 to 2020. METHODS: The surveillance data from maternal and child health system of Huai'an from 2008 to 2020 and Huai'an Statistical Yearbook were used for analysis. Taking the annual change percentage and average annual change percentage (AAPC) as the main outcome indicators, the JoinPoint regression analysis was performed to estimate the changing trend of birth defects from 2008 to 2020. Spearman correlation analysis was used to examine the association between birth defects and birth rate, marriage rate, proportion of women with advanced maternal age. RESULTS: During 2008 to 2020, a total of 3414 cases of neonatal birth defects occurred in Huai'an, with an incidence of 4.6 (3414/736 608). The rate of perinatal birth defects in Huai'an showed an increasing trend (AAPC=8.8%, t=3.2, P<0.01), and the year of 2016 was a significant changing point. Among 24 types of birth defects, the incidence of congenital heart disease rose and became the most prevalent defect, while the incidence of neural tube malformations such as anencephaly, encephalocele and spina bifida was declined. The incidence of birth defect was negatively correlated with the birth rate ( r=-0.751, P<0.01), not correlated with marriage rate ( r=-0.516, P>0.05), and positively correlated with the proportion of women with advanced maternal age ( r=0.726, P<0.01). CONCLUSION: The incidence of birth defects in Huai'an shows an increasing trend from 2008 to 2020 with congenital heart disease as the most common type of birth defect, and the increase of birth defects incidence is closely related with the increase of the proportion of women with advanced maternal age.
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Anomalías Congénitas , China/epidemiología , Anomalías Congénitas/epidemiología , Femenino , Cardiopatías Congénitas/epidemiología , Humanos , Recién Nacido , Defectos del Tubo Neural/epidemiología , EmbarazoRESUMEN
BACKGROUND: Despite 15-17 millions of annual births in China, there is a paucity of information on prevalence and outcome of preterm birth. We characterized the outcome of preterm births and hospitalized preterm infants by gestational age (GA) in Huai'an in 2015, an emerging prefectural region of China. METHODS: Of 59,245 regional total births, clinical data on 2651 preterm births and 1941 hospitalized preterm neonates were extracted from Huai'an Women and Children's Hospital (HWCH) and non-HWCH hospitals in 2018-2020. Preterm prevalence, morbidity and mortality rates were characterized and compared by hospital categories and GA spectra. Death risks of preterm births and hospitalized preterm infants in the whole region were analyzed with multivariable Poisson regression. RESULTS: The prevalence of extreme, very, moderate, late and total preterm of the regional total births were 0.14, 0.53, 0.72, 3.08 and 4.47%, with GA-specific neonatal mortality rates being 44.4, 15.8, 3.7, 1.5 and 4.3%, respectively. There were 1025 (52.8% of whole region) preterm admissions in HWCH, with significantly lower in-hospital death rate of inborn (33 of 802, 4.1%) than out-born (23 of 223, 10.3%) infants. Compared to non-HWCH, three-fold more neonates in HWCH were under critical care with higher death rate, including most extremely preterm infants. Significantly all-death risks were found for the total preterm births in birth weight < 1000 g, GA < 32 weeks, amniotic fluid contamination, Apgar-5 min < 7, and birth defects. For the hospitalized preterm infants, significantly in-hospital death risks were found in out-born of HWCH, GA < 32 weeks, birth weight < 1000 g, Apgar-5 min < 7, birth defects, respiratory distress syndrome, necrotizing enterocolitis and ventilation, whereas born in HWCH, antenatal glucocorticoids, cesarean delivery and surfactant use decreased the death risks. CONCLUSIONS: The integrated data revealed the prevalence, GA-specific morbidity and mortality rate of total preterm births and their hospitalization, demonstrating the efficiency of leading referral center and whole regional perinatal-neonatal network in China. The concept and protocol should be validated in further studies for prevention of preterm birth.
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Edad Gestacional , Maternidades/estadística & datos numéricos , Atención Perinatal/estadística & datos numéricos , Mortalidad Perinatal , Nacimiento Prematuro/epidemiología , China/epidemiología , Femenino , Mortalidad Hospitalaria , Hospitalización/estadística & datos numéricos , Maternidades/organización & administración , Humanos , Recién Nacido , Masculino , Atención Perinatal/organización & administración , Embarazo , Nacimiento Prematuro/prevención & control , PrevalenciaRESUMEN
BACKGROUND: The objective of this survey was to explore the association between pregnancy complications and perinatal outcome from regionally total birth population. METHODS: In this prospectively collected data of complete birth registries from all level I-III hospitals in Huai'an in 2015, perinatal morbidity and mortality in relation to pregnancy complications and perinatal outcome were analyzed using international definitions. The results were compared with that of 2010 survey in the same region. RESULTS: Of 59,424 total births in the hospitals of level I (n = 85), II (16) and III (6), delivery rate was 30.4, 40.1 and 29.5%, and rates of pregnancy complications were 12.9, 9.8 and 21.1% (average 14.1%), with antenatal corticosteroids rate in < 37 gestational weeks being 17.3, 31.0 and 39.9% (mean 36.6%), respectively. The preterm birth rate was 0.6, 2.7 and 9.5% (mean 4.06%), and the composite rate of fetal death, stillbirth, and death immediately after delivery was 0.1, 0.4 and 0.6%, respectively. By multivariable logistic regression analysis, congenital anomalies, low Apgar scores, multi-pregnancy and amniotic fluid contamination were risk factors of adverse perinatal outcomes. Despite a higher rate of pregnancy complications than in 2010 survey, perinatal and neonatal mortality continued to fall, in particular in very preterm births. The high cesarean delivery rate in non-medically indicated cases remained a challenge. CONCLUSIONS: Our regional birth-population data in 2015 revealed a robust and persistent improvement in the perinatal care and management of high risk pregnancies and deliveries, which should enable more studies using similar concept and protocol for vital statistics to verify the reliability and feasibility.
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Parto Obstétrico/mortalidad , Atención Perinatal/tendencias , Mortalidad Perinatal/tendencias , Complicaciones del Embarazo/mortalidad , Embarazo de Alto Riesgo , Adulto , China , Femenino , Humanos , Recién Nacido , Modelos Logísticos , Embarazo , Sistema de Registros , Factores de RiesgoRESUMEN
BACKGROUND: The identification of sepsis in children varies depending on the definition used. Our purpose was to compare clinical data and outcome of atypical sepsis, manifested as having sepsis but not fulfilling the criteria of systemic inflammatory response syndrome (SIRS-negative sepsis, SNS), in children based on the modified Angus criteria with those of sepsis (S) and severe sepsis (SS) based on the international consensus criteria. METHODS: Pediatric departments in 11 regional city and county referral hospitals with emergency and intensive care settings in Huai'an serving for 843,000 children participated in a parallel multicenter prospective survey. Clinical data registry was used to recruit those who fulfilled the diagnostic criteria for pediatric sepsis from all admissions (n = 27,836) from 28 days to 15 years old, from September 1, 2010 to August 31, 2011. RESULTS: A total of 1606 children met the criteria for pediatric sepsis and were divided into three groups: S, (n = 1377), SS (n = 153, including 32 septic shock), based on the consensus definition criteria, and SNS (n = 76) based on the modified Angus criteria. Most deaths (38/54, 70.3%) occurred within three days of admission. The SNS mainly occurred in infants and was associated with cardiopulmonary and neurologic dysfunction without satisfying the SIRS criteria. CONCLUSIONS: SNS differed from SS in that it predominantly affected infants and manifested with cardiopulmonary and neurologic dysfunction. There were no laboratory variables which were useful in identification of SNS, or predicting response to therapy or outcome.
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Sepsis/diagnóstico , Adolescente , Niño , Preescolar , China , Femenino , Hospitales de Condado , Hospitales Urbanos , Humanos , Lactante , Recién Nacido , Masculino , Estudios Prospectivos , Derivación y Consulta , Índice de Severidad de la Enfermedad , Síndrome de Respuesta Inflamatoria Sistémica/diagnósticoRESUMEN
OBJECTIVE: To investigate the influence of family environment on developmental coordination disorder (DCD) in preschool children. METHODS: Stratified random cluster sampling was used to select 1 727 children (4-6â years old). The Movement Assessment Battery for Children was used to screen out the children with DCD. The Family Environment Scale on Motor Development for Preschool Urban Children and a self-designed questionnaire were used to assess family environment. RESULTS: A total of 117 children were confirmed with DCD. There were significant differences in mother's education level and family structure between the DCD and normal control groups. There were also significant differences in the scores of "Let children manage their daily items" and "Arrange all affairs" between the DCD and normal control groups. The multivariate logistic regression analysis indicated that when children's age and gender were controlled, mother's education level, family structure, "Let children manage their daily items", and "Arrange all affairs" were main factors influencing the development of DCD in children (P<0.05). CONCLUSIONS: Family environment may affect the development of DCD in preschool children. Therefore, parents should not arrange all affairs for children and should provide more opportunities for children to manage their daily life, in order to promote the development of early motor coordination and prevent the development of DCD.
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Discapacidades del Desarrollo/etiología , Familia , Niño , Preescolar , Ambiente , Femenino , Humanos , Modelos Logísticos , MasculinoRESUMEN
AIM: This Chinese study assessed partial pressure of exhaled nitric oxide (PeNO) in healthy Tibetan and non-Tibetan newborn infants born at a very high altitude. METHODS: Full-term Tibetan and non-Tibetan neonates born in Lhasa, 3658 metres above sea level, were compared to non-Tibetan neonates born in Kunming (1891 m) and Huai'an (16 m). The chemiluminiscence technique was used to measure the fraction of exhaled nitric oxide during spontaneous tidal breathing and this was then converted to partial pressure of exhaled nitric oxide (PeNO). RESULTS: In their first week, Tibetan and non-Tibetan neonates born in Lhasa had persistently higher PeNO levels than non-Tibetan neonates born in Kunming and Huai'an, which was further verified by partial pressure of inspired oxygen adjustment. However, the non-Tibetans born in Lhasa required short-term oxygen therapy to improve their early postnatal oxygenation. The temporal changes of PeNO and cardio-respiratory function measurements demonstrated that Tibetan and non-Tibetan newborns in Lhasa initially needed to adapt to attain homoeostasis in oxygenation and gas exchange. CONCLUSION: Tibetan and non-Tibetan newborn infants living at the same high altitude demonstrated comparable PeNO levels during postnatal adaptation to hypobaric hypoxia, which warrants further investigation of the mechanism of endogenous nitric oxide and hypoxic tolerance.
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Adaptación Fisiológica/fisiología , Altitud , Hipoxia/fisiopatología , Óxido Nítrico/metabolismo , Biomarcadores/metabolismo , Pruebas Respiratorias , China , Femenino , Homeostasis/fisiología , Humanos , Recién Nacido , Masculino , Consumo de Oxígeno , Presión Parcial , TibetRESUMEN
Inactivating mutations of the thyrotropin receptor (TSHR) gene are responsible for non-goitrogenic congenital hypothyroidism (CHNG). This study aimed to investigate mutations in the TSHR gene in 20 children with CHNG. Genomic DNA was extracted from peripheral blood leukocytes and was used for mutation screening by direct sequencing. Analyses of the TSHR gene revealed two novel variants in a 2-year-old boy with thyroid hypoplasia: a missense mutation c.1582C>T (p.R528C) and a splice-site deletion c.392+4del4. Bioinformatics analysis demonstrated that both variants are capable of causing disease. Family members of the patient with two mutations and normal controls were also recruited and investigated. Germline mutations from the proband's family were consistent with an autosomal recessive inheritance pattern. These findings indicate that two novel inactivating mutations (p.R528C and c.392+4del4) in the TSHR gene can cause CHNG.
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Hipotiroidismo Congénito/genética , Receptores de Tirotropina/genética , Niño , Preescolar , Femenino , Humanos , Masculino , MutaciónRESUMEN
BACKGROUND: Neonatal mortality reduction in China over past two decades was reported from nationwide sampling surveys, however, how high risk pregnancy affected neonatal outcome is unknown. The objective of this study was to explore relations of pregnancy complications and neonatal outcomes from a regional birth population. METHODS: In a prospective, cross-sectional survey of complete birth population-based data file from 151 level I-III hospitals in Huai'an region in 2010, pregnancy complications were analyzed for perinatal morbidity and mortality in association with maternal and perinatal characteristics, hospital levels, mode of delivery, newborn birth weight and gestational age, using international definition for birth registry and morbidities. RESULTS: Pregnancy complications were found in 10% of all births, in which more than 70% were delivered at level II and III hospitals associated with higher proportions of fetal and neonatal death, preterm birth, death at delivery and congenital anomalies. High Cesarean section delivery was associated with higher pregnancy complications, and more neonatal critical illnesses. The pregnancy complications related perinatal morbidity and mortality in level III were 2-4 times as high as in level I and II hospitals. By uni- and multi-variate regression analysis, impact of pregnancy complications was along with congenital anomalies and preterm birth, and maternal child-bearing age and school education years contributing to the prevalence. CONCLUSIONS: This survey revealed variable links of pregnancy complications to perinatal outcome in association with very high Cesarean section deliveries, which warrants investigation for causal relations between high risk pregnancy and neonatal outcome in this emerging region.
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Enfermedades del Prematuro/mortalidad , Mortalidad Perinatal/tendencias , Complicaciones del Embarazo/epidemiología , Embarazo de Alto Riesgo , Nacimiento Prematuro , Análisis de Varianza , Causas de Muerte , Cesárea/estadística & datos numéricos , China , Estudios Transversales , Femenino , Humanos , Incidencia , Recién Nacido , Enfermedades del Prematuro/diagnóstico , Modelos Logísticos , Masculino , Análisis Multivariante , Embarazo , Complicaciones del Embarazo/diagnóstico , Estudios Prospectivos , Análisis de RegresiónRESUMEN
OBJECTIVE: To determine the prevalence, treatment, and outcomes of sepsis at regional hospitals in Huai'an, Jiangsu, China. DESIGN: Prospective data registry using a descriptive clinical epidemiologic approach through a collaborative network. SETTING: Pediatric departments in 11 regional city and county referral hospitals serving 843,000 children (exclusive of neonates). SUBJECTS: All admissions (n = 27,836) of patients from 28 days to 15 years old from September 1, 2010, to August 31, 2011. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: A total of 1,530 patients met the 2005 international consensus definition of sepsis, corresponding to an estimated incidence of 181/100,000 children, with 80% under 5 years old, and in 10% (153), severe sepsis or septic shock developed. The overall case fatality rate for sepsis was 3.5% (53/1,530) or 34.6% (53/153) in those in whom severe sepsis or septic shock developed. Treatment varied widely and in many instances did not conform to international guidelines as reflected by inadequate use of antibiotics, corticosteroids, vasoactive agents, and inotropes. CONCLUSIONS: We first report the prevalence and outcome of pediatric sepsis based on a regional hospital network in China. The diverse treatment approaches and practice at low-level clinics suggest the need for clinical implementation of internationally recognized strategy to improve the care standard in resource-limited regional hospitals.
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Sepsis/epidemiología , Adolescente , Antibacterianos/uso terapéutico , Niño , Preescolar , China/epidemiología , Femenino , Humanos , Incidencia , Lactante , Masculino , Prevalencia , Estudios Prospectivos , Sepsis/tratamiento farmacológico , Sepsis/mortalidad , Choque Séptico/tratamiento farmacológico , Choque Séptico/epidemiologíaRESUMEN
OBJECTIVE: To investigate the prevalence, clinical characteristics, treatment, and prognosis of neonatal respiratory failure (NRF) in Huai'an, Jiangsu Province, China, in 2010. METHODS: The clinical data of all NRF cases in the hospitals of Huai'an in 2010 were prospectively collected and analyzed using descriptive epidemiological methods. RESULTS: Among 60,986 live births in Huai'an in 2010, there were 556 (0.91%) cases of NRF. The average birth weight of newborns with NRF was 2,433±789 g, with 53.8% determined as low birth weight and 64.1% as preterm. The major causes of NRF were respiratory distress syndrome, pneumonia, asphyxia, sepsis, and pulmonary hemorrhage. Among the newborns with NRF, 23.7% were accompanied by certain birth defects. Fourteen percent of newborns with NRF received pulmonary surfactant (PS) therapy, and the median time of the first dose of PS was 5 hours (range: 0-51 hours). Nasal continuous positive airway pressure treatment, conventional mechanical ventilation, and high-frequency ventilation were used in 67.9%, 33.3%, and 13.7% of patients, respectively. The cure and improvement rate of NRF patients was 73.9% (411/556), and the mortality rate was 22.5% (125/556). The average hospitalization expenses were 9,270 (range: 196-38182) Yuan. CONCLUSIONS: High morbidity, high mortality and high medical costs make NRF a serious challenge in Huai'an. It is essential to improve the quality of perinatal care and develop new techniques and new models in neonatal respiratory therapy in order to reduce the morbidity and mortality of NRF.
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Insuficiencia Respiratoria/epidemiología , China/epidemiología , Femenino , Humanos , Recién Nacido , Masculino , Surfactantes Pulmonares/uso terapéutico , Respiración Artificial , Insuficiencia Respiratoria/mortalidad , Insuficiencia Respiratoria/terapia , Factores de Tiempo , Insuficiencia del TratamientoRESUMEN
NYGGF4 (also called PID1) is a recently discovered gene that is involved in obesity-related insulin resistance (IR). We aimed in the present study to further elucidate the effects of NYGGF4 on IR and the underlying mechanisms through using metformin treatment in 3T3-L1 adipocytes. Our data showed that the metformin pretreatment strikingly enhanced insulin-stimulated glucose uptake through increasing GLUT4 translocation to the PM in NYGGF4 overexpression adipocytes. NYGGF4 overexpression resulted in significant inhibition of tyrosine phosphorylation of IRS-1 and serine phosphorylation of Akt, whereas incubation with metformin strongly activated IRS-1 and Akt phosphorylation in NYGGF4 overexpression adipocytes. The reactive oxygen species (ROS) levels in NYGGF4 overexpression adipocytes were strikingly enhanced, which could be decreased by the metformin pretreatment. Our data also showed that metformin increased the expressions of PGC1-α, NRF-1, and TFAM, which were reduced in the NYGGF4 overexpression adipocytes. These results suggest that NYGGF4 plays a role in IR and its effects on IR could be reversed by metformin through activating IRS-1/PI3K/Akt and AMPK-PGC1-α pathways.
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Adipocitos/metabolismo , Proteínas Portadoras/metabolismo , Hipoglucemiantes/farmacología , Resistencia a la Insulina , Metformina/farmacología , Transducción de Señal/efectos de los fármacos , Células 3T3-L1 , Adipocitos/patología , Animales , Proteínas Portadoras/genética , Membrana Celular/genética , Membrana Celular/metabolismo , Membrana Celular/patología , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/metabolismo , Transportador de Glucosa de Tipo 4/genética , Transportador de Glucosa de Tipo 4/metabolismo , Proteínas del Grupo de Alta Movilidad/genética , Proteínas del Grupo de Alta Movilidad/metabolismo , Proteínas Sustrato del Receptor de Insulina/genética , Proteínas Sustrato del Receptor de Insulina/metabolismo , Ratones , Factor Nuclear 1 de Respiración/genética , Factor Nuclear 1 de Respiración/metabolismo , Coactivador 1-alfa del Receptor Activado por Proliferadores de Peroxisomas gamma , Fosfatidilinositol 3-Quinasas/genética , Fosfatidilinositol 3-Quinasas/metabolismo , Fosforilación/efectos de los fármacos , Fosforilación/genética , Transporte de Proteínas/efectos de los fármacos , Transporte de Proteínas/genética , Proteínas Proto-Oncogénicas c-akt/genética , Proteínas Proto-Oncogénicas c-akt/metabolismo , Transducción de Señal/genética , Transactivadores/genética , Transactivadores/metabolismo , Factores de TranscripciónRESUMEN
BACKGROUND: Reliable data for causal implication of neonatal survival in China are lacking. We assumed that by analyzing surviving data of in-hospital neonatal care based on all livebirths in Huai'an, prevalence of neonatal morbidity, mortality and causal relations may be derived comprehensively. MATERIALS AND METHODS: Data of all regionally hospitalized neonates were retrospectively linked with corresponding whole livebirths (59,056) in 2015 as a cohort. Diagnoses of diseases and causes of deaths were redefined and categorized. Disease patterns, prevalence of morbidities, case-fatality rate (CFR), and cause-specific mortality rate (CSMR) referring to livebirths were presented. Perinatal and disease-specific risks of death were estimated by multivariable logistic regression. RESULTS: In 7,960 (134.8) hospitalized patients, 168 (2.1%) died in hospital (2.85 of livebirths). Prevalence of major morbidities were 76.8 hyperbilirubinemia, 57.4 pneumonia, 32.7 intraventricular hemorrhage, 20.7 sepsis, 20.2 birth asphyxia, 9.69 congenital anomalies (CA), and 5.30 respiratory distress syndrome (RDS). The CFR (CSMR) of major diseases were 30.4% (0.12) meconium aspiration syndrome, 17.6% (0.22) necrotizing enterocolitis, 14.1% (0.75) RDS, 9.09% (0.88) CA, 5.26% (0.07) bronchopulmonary dysplasia, 1.71% (0.36) sepsis and 1.51% (0.31) asphyxia. Overall mortality rates were 4.6% and 6.8% in the preterm and low birthweight, and >50% in those of <28 week gestation or <1000 g birthweight, respectively. Mortality risks associated with the perinatal and neonatal morbidities were markedly declined with variable magnitude by multivariable regression models. CONCLUSIONS: The in-hospital neonatal survival datafile, depicted as the prevalence of major morbidities and CSMR of livebirth population in Huai'an, denoted overall and specific quality and efficiency of the perinatal-neonatal care system. Its concept and methodology should be relevant, and outcome extrapolated, to other countries or domestic regions, with similar socioeconomic development.
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Síndrome de Aspiración de Meconio , Síndrome de Dificultad Respiratoria del Recién Nacido , Sepsis , Embarazo , Femenino , Recién Nacido , Humanos , Estudios Retrospectivos , Prevalencia , Peso al Nacer , Asfixia , Morbilidad , Recién Nacido de Bajo Peso , Estudios de Cohortes , Mortalidad InfantilRESUMEN
OBJECTIVE: To evaluate the roles of plasma mast cell carboxypeptidase and chymase in the diagnosis of allergic diseases by measuring the contents of both in children. METHODS: A total of 59 children with allergic diseases and 53 healthy children were recruited into the study. Plasma levels of mast cell carboxypeptidase and chymase were measured using ELISA. RESULTS: The plasma levels of mast cell carboxypeptidase and chymase in children with allergic children were 1.089 ± 0.752 ng/mL and 0.905(0.375-2.318) ng/mL, respectively, which were significantly higher than those in healthy children [0.593 ± 0.380 ng/mL and 0.454 (0.097-1.077) ng/mL respectively; P<0.05]. There was a significantly positive correlation between plasma mast cell carboxypeptidase and chymase levels in children with allergic diseases (r=0.684, P<0.01). CONCLUSIONS: Plasma levels of mast cell carboxypeptidase and chymase increase in children with allergic diseases, suggesting that mast cell carboxypeptidase and chymase may serve as the indexes for the diagnosis of allergic diseases.
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Carboxipeptidasas/sangre , Quimasas/sangre , Hipersensibilidad/enzimología , Mastocitos/enzimología , Adolescente , Niño , Preescolar , Femenino , Humanos , Hipersensibilidad/diagnóstico , Lactante , Recién Nacido , MasculinoRESUMEN
Complex chromosome rearrangements (CCRs), which are rather rare in the whole population, may be associated with aberrant phenotypes. Next-generation sequencing (NGS) and conventional techniques, could be used to reveal specific CCRs for better genetic counseling. We report the CCRs of a girl and her mother, which were identified using a combination of NGS and conventional techniques including G-banding, fluorescence in situ hybridization (FISH) and PCR. The girl demonstrated CCRs involving chromosomes 3 and 8, while the CCRs of her mother involved chromosomes 3, 5, 8, 11 and 15. HumanCytoSNP-12 Chip analysis identified a 35.4 Mb duplication on chromosome 15q21.3-q26.2 in the proband and a 1.6 Mb microdeletion at chromosome 15q21.3 in her mother. The proband inherited the rearranged chromosomes 3 and 8 from her mother, and the duplicated region on chromosome 15 of the proband was inherited from the mother. Approximately one hundred genes were identified in the 15q21.3-q26.2 duplicated region of the proband. In particular, TPM1, SMAD6, SMAD3, and HCN4 may be associated with her heart defects, and HEXA, KIF7, and IDH2 are responsible for her developmental and mental retardation. In addition, we suggest that a microdeletion on the 15q21.3 region of the mother, which involved TCF2, TCF12, ADMA10 and AQP9, might be associated with mental retardation. We delineate the precise structures of the derivative chromosomes, chromosome duplication origin and possible molecular mechanisms for aberrant phenotypes by combining NGS data with conventional techniques.
Asunto(s)
Cromosomas Humanos Par 15/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Discapacidad Intelectual/genética , Análisis de Secuencia de ADN/métodos , Trisomía , Adulto , Aberraciones Cromosómicas , Bandeo Cromosómico , Femenino , Predisposición Genética a la Enfermedad , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Análisis de Secuencia por Matrices de Oligonucleótidos , Polimorfismo de Nucleótido SimpleRESUMEN
OBJECTIVE: To describe the status of serum 25-hydoxyvitamin D [25(OH)D] concentrations and identify the relationship between 25(OH)D and bone mineral density (BMD). In an effort to explore the appropriate definition of vitamin D (VD) deficiency in 0-7 year old children. RESULTS: The median serum 25(OH)D concentrations was 62.9 nmol/L and 28.9% of the children had a low 25(OH)D (< 50 nmol/L). And a linear relation between 25(OH)D concentrations and BMD was surveyed (r = 0.144 , P < 0.001). After adjusting for the confounders, serum 25(OH)D was positively associated with BMD (ß = 172.0, 95%CI = 142.8-201.2, P < 0.001), and low 25(OH)D (< 75 nmol/L) had a high stake for low BMD (OR = 1.424, 95%CI = 1.145-1.769, P = 0.001). Additionally, there was a nonlinear relation between 25(OH)D and low BMD, and a critical value for 25(OH)D of 75 nmol/L appeared for low BMD. The prevalence of low BMD was 14.1% in children with 25(OH)D ≥ 75 nmol/L, much lower than that of the concentrations between 50-75 nmol/L and < 50 nmol/L. MATERIALS AND METHODS: A total of 4,846 children 0-7 years old were recruited in Jiangsu Province, China. BMD and serum 25(OH)D concentrations were determined by quantitative ultrasound and enzyme-linked immunosorbent assay, respectively. Linear regression and logistic regression analyses were used to assess the association of 25(OH)D concentrations with BMD. CONCLUSIONS: Serum 25(OH)D concentrations was related with BMD and 25(OH)D concentrations < 75 nmol/L might be a more appropriate definition of VD deficiency in 0-7 year old children.
Asunto(s)
Densidad Ósea , Deficiencia de Vitamina D/diagnóstico , Vitamina D/análogos & derivados , Factores de Edad , Biomarcadores/sangre , Estudios de Casos y Controles , Niño , Preescolar , China/epidemiología , Ensayo de Inmunoadsorción Enzimática , Femenino , Estado de Salud , Humanos , Lactante , Recién Nacido , Modelos Lineales , Modelos Logísticos , Masculino , Dinámicas no Lineales , Prevalencia , Ultrasonografía , Vitamina D/sangre , Deficiencia de Vitamina D/sangre , Deficiencia de Vitamina D/epidemiología , Deficiencia de Vitamina D/fisiopatologíaRESUMEN
OBJECTIVE: To introduce the Ages and Stages Questionnaires, Third Edition (ASQ-3), to China, created ASQ-Chinese (ASQ-C) and carried out studies of its national norm and the psychometrical properties in the children aged 1-66 months in the mainland of China in collaboration with the author of the ASQ System and under the authorizations from its publisher on translation, researches, publication and distribution of the ASQ-3. METHOD: The ASQ-3 questionnaires were translated and adapted into a Simplified Chinese version, the ASQ-C, with six steps such as translation, back-translation and adaptation and so on to ensure consistency with the core of the original document and to have the cultural relevance in China.A stratified cluster sampling method was utilized to recruit children aged 1-66 months with respect to demographic characteristics such as the proportion of population in each administrative region and in urban and rural areas and so on that are representative of 2010 China census data.A sample size of over 200 was collected for each ASQ-C age interval.Children were excluded from the normative sample who (1) are from communities or villages at an elevation of 2 000 m or above and(or) where simplified Chinese is not the official language, or (2) had been diagnosed as having a developmental delay by any authoritative organizations.The national normative sample for the ASQ-C had a total sample size of 4 452, sample size within each age interval ranged from 218 to 227, including 2 230 male cases and 2 222 female cases, 2 236 urban cases and 2 216 rural cases.A convenience sample was recruited from the normative sample to examine inter-rater reliability and test-retest reliability in all six administrative regions.Researchers completed the ASQ-C on the same child with their parents for 162 children for inter-rater reliability(the size of each ASQ-C age interval was 5-9); parents of 168 children completed another age-appropriate ASQ-C for test-retest reliability during 10-15 days after they completed the normative ASQ-C(The size of each ASQ-C age interval is 6-10). Another convenience sample was recruited from the follow-up of low birth weight infants for the concurrent validity of the ASQ-C in comparison with the Beijing Gesell.Parents of 198 children completed age-appropriate ASQ-C and professional administered to the children with the Beijing Gesell.In the ASQ-C norm and test-retest reliability, parents completed the age-appropriate ASQ-C, independently or with needed assistance. In inter-rater reliability, researchers completed the same ASQ-C after parents. In validity test, after parents completing age-appropriate ASQ-C, professional tested children with the Beijing Gesell.Data were analyzed using SPSS version 13.0 software.The mean and standard deviation of the national normative sample were calculated, reliability and validity of the ASQ-C was examined. RESULT: The demographic characteristics of this Chinese sample match the 2010 China census data on gender, urban or rural location, and family income.All 20 intervals of the ASQ-C were standardized on 21 national normative samples.Cronbach's alpha coefficient for the whole measure was 0.8.The Pearson correlation coefficient between the ASQ-C total scores of the two raters was 0.8.The Pearson correlation coefficient between the ASQ-C total scores of the two times was 0.8 (all P<0.000 1). The sensitivity of ASQ-C was 87.50% and the specificity of ASQ-C was 84.48%.The percentage of the agreement between the ASQ-C and the Beijing Gesell was 84.74%. CONCLUSION: These findings indicate that the ASQ-C is a reliable and valid measure with a representative national sample aged 1-66 months.It can be used to screen and monitor the development of children in the mainland of China.