[Association between family environment and developmental coordination disorder in preschool children].

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 (4-6 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.

Two novel TSHR gene mutations (p.R528C and c.392+4del4) associated with congenital hypothyroidism.

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.

[A population-based epidemiological survey of neonatal respiratory failure in Huai'an City of Jiangsu Province, in 2010].

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.

NYGGF4 (PID1) effects on insulin resistance are reversed by metformin in 3T3-L1 adipocytes.

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.

[Measurement of plasma mast cell carboxypeptidase and chymase levels in children with allergic diseases].

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.

Fasting glucagon-like peptide-1 in patients with overt hyperthyroidism and euthyroid congenital hypothyroidism.

AIM: To investigate the influence of overt hyperthyroidism and euthyroid congenital hypothyroidism on fasting glucagon-like peptide-1 (GLP-1) levels. METHODS: A total of 30 untreated overt hyperthyroidism patients, 17 euthyroid congenital hypothyroidism children, and age- and sex-matched controls were enrolled. Levels of GLP-1, insulin, glucose, and homeostasis model assessment (HOMA-IR) were measured and evaluated. RESULTS: Fasting GLP-1, blood glucose, insulin, and HOMR-IR levels were higher in patients with overt hyperthyroidism than in controls (p=0.030, p=0.008, p=0.004, p=0.037, respectively). These parameters in euthyroid hypothyroidism were similar to the controls. In euthyroid congenital hypothyroidism and overt hyperthyroidism patients, serum GLP-1 levels were not correlated with thyroid hormone, blood glucose, insulin, and HOMR-IR. CONCLUSIONS: Fasting GLP-1 levels in the peripheral circulation were significantly increased in overt hyperthyroidism, however, they were no different in euthyroid congenital hypothyroidism.