Prevalence of diabetes mellitus among Uygur children in Hotan Prefecture of Xinjiang, China / 中国当代儿科杂志

OBJECTIVES@#To investigate the prevalence of diabetes mellitus (DM) among Uygur children in Hotan Prefecture of Xinjiang, China, as well as the factors influencing the development of DM.@*METHODS@#The cluster random sampling method was used to select 5 308 children, aged 4-18 years, from the middle and primary schools and kindergartens in Hotan Prefecture of Xinjiang. The survey methods included questionnaire survey and the measurement of height and weight. All subjects were tested for fasting fingertip blood glucose to investigate the prevalence of DM and impaired fasting glucose (IFG).@*RESULTS@#A total of 5 184 valid questionnaires were collected. Fourteen children (0.27%) were found to have DM, among whom 8 had type 1 DM, 2 had type 2 DM, and 4 had unclassified DM. Twenty-nine children (0.56%) were found to have IFG. There was no significant difference in the prevalence rate of DM and IFG between boys and girls (P>0.05). The prevalence rate of DM was 0.18% in the 4-<10 years group, 0.47% in the 10-<15 years group, and 0.07% in the 15-18 years group (P=0.072).The prevalence rate of IFG in the above three age groups was 0.18%, 0.94%, and 0.42%, respectively, with a significant difference among groups (P=0.007). The proportion of family history of DM and the proportion of overweight/obesity in children with DM were significantly higher than those in children without DM (P<0.05), while the proportion of children with DM who preferred coarse grains was significantly lower than that in children without DM (P<0.05).@*CONCLUSIONS@#The prevalence of DM and IFG in Uyghur children in Hotan Prefecture of Xinjiang is relatively low. There is no significant difference in the prevalence of DM among children of different genders or age groups, but the prevalence of IFG in children of different age groups is different. A family history of DM, overweight or obesity, and low intake of coarse grains might be associated with the development of DM.

Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate gene mutations and the relationship between genotypes and clinical phenotypes in Uygur children with 21-hydroxylase deficiency (21-OHD) in Xinjiang, China.</p><p><b>METHODS</b>A total of 20 Uygur children with 21-OHD who visited the hospital between October 2013 and October 2014 were enrolled. Full-length direct sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to detect the mutations of CYP21A2 gene, which encoded 21-hydroxylase. According to the type of mutation, the patients with 21-OHD were divided into different groups to analyze the consistency between predicted clinical phenotypes and actual clinical phenotypes.</p><p><b>RESULTS</b>A total of 9 mutation types were found in the 20 patients, and 8 of them were identified as pathogenic mutations, i.e., Del, conv, I2g, I172N, Cluster E6, 8-bp del, V281L, and R356W. The other mutation is the new mutation occurring in intron 5 (c.648+37A>G), which had not been reported, and its pathological significance remains unknown. Most clinical phenotypes predicted by mutation types had a higher coincidence rate with actual clinical phenotypes (above 67%), and the clinical phenotypes predicted by P30L and V281L had a lower coincidence rate with actual clinical phenotypes (below 33%).</p><p><b>CONCLUSIONS</b>The genotype of 21-OHD has a good correlation with phenotype, and the clinical phenotype can be predicted by detecting the patient′s genotype. The new mutation (c.648+37A>G) may be related to the pathogenesis of 21-OHD.</p>

Prenatal diagnosis of β-thalassaemia using cell-free fetal DNA in maternal plasma / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the clinical feasibility of cell-free fetal DNA (cffDNA)-based noninvasive prenatal diagnosis of β-thalassemia.</p><p><b>METHODS</b>Nine samples of amniotic fluid were obtained to detect the 8 common and 9 relatively rare mutation sites of β-thalassaemia in Guangdong Province. The maternal blood samples were also collected for extracting and purification of the cffDNA, and a duplex PCR was performed using 3 pairs of primers and the fetal β-globin genotype was analyzed by reverse dot-blot hybridization.</p><p><b>RESULTS</b>Among the 9 cases, 5 showed fetal genotypes of β-thalassemia inherited from the father by examination of the amniotic fluid, and 2 fetuses were identified to have β-thalassemia genes inherited from the father determined based on the cffDNA in the maternal blood.</p><p><b>CONCLUSIONS</b>The cffDNA-based noninvasive prenatal diagnosis is feasible for β-thalassemia, but the contamination of the maternal background DNA results in a low detection rate.</p>

Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism / 中华儿科杂志

<p><b>OBJECTIVE</b>The inactivating mutation of thyrotropin receptor (TSHR) gene results in partial or complete insensitivity of thyrotropin (TSH) and dysfunction of the TSH-TSHR-cAMP cascade. Therefore, it may cause congenital hypothyroidism (CH). Depending on the degree of impairment of TSHR function, patients can present with subclinical hypothyroidism at one extreme of the spectrum, or severe hypothyroidism at the other. This study aimed to understand the relation between inactivating mutations of TSHR gene and Chinese children with CH.</p><p><b>METHODS</b>(1) Seventy-nine Chinese children with CH, including 14 subclinical hypothyroidism patients (8 boys and 6 girls, age 1 - 5.5 years) and 65 hypothyroidism patients (27 boys and 38 girls, age 1.5 - 6 years) were enrolled in this study. Meanwhile, 100 normal children were enrolled as control, 40 were male and 60 were female. The age of the normal children were at a range of 1 - 8 years. (2) Total genomic DNA was extracted from peripheral blood leukocytes of the 79 patients and 100 normal subjects. Exons 1 - 10 of TSHR gene were individually amplified by polymerase chain reaction (PCR) and mutations were detected by direct sequencing.</p><p><b>RESULTS</b>(1) A compound heterozygous missense mutations (Pro52Thr/Val689Gly) and a heterozygous missense mutation (Gly245Ser) were detected in 79 patients. The mutations of Pro52Thr and Gly245Ser were located within the extracellular domain of TSHR, while Val689Gly was located within the intracellular domain of TSHR. In 30 patients the normal cytosine at position 2181 in exon 10 was replaced by a guanine (GAC-->GAG), resulting in the replacement of Glu(727) by Asp. In 47 patients, the normal thymidine at position 561 in exon 7 was replaced by a cytosine (AAT-->AAC). This substitution did not change the amino acid (Asn) at position 187. (2) In 33 normal children the normal cytosine at position 2181 in exon 10 was also replaced by a guanine (GAC-->GAG) and in 50 normal children the normal thymidine at position 561 in exon 7 was replaced by a cytosine (AAT-->AAC).</p><p><b>CONCLUSIONS</b>Three heterozygous missense mutations (Pro52Thr, Gly245Ser, Val689Gly) of TSHR gene were firstly detected in Chinese children with CH. There was a polymorphism in exon 10 at nucleotide 2181 (GAC-->GAG) and in exon 7 at nucleotide 561 (AAT-->AAC) in TSHR gene. The inactivating mutation of TSHR gene is an infrequent pathogeny for CH.</p>

Follow-up study of mental developments in high-risk children / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To study the mental developments in high risk children and the impact of the high risk factors on neurologic abnormalities, mental defect and long-term outcome.</p><p><b>METHODS</b>The mental development of 122 children who had been exposed to high-risk factors and treated between March 1994 to May 1995 during their newborn periods was evaluated. Gesell development scales were performed when they were at 6 and 12 months old. And Wechsler intelligence scales for children (Chinese version) were performed at 6 approximately 7 years old.</p><p><b>RESULTS</b>The children exposed to hypoglycemia during their newborn period and preterm labor had significantly lower IQ, VIQ and PIQ scores (P <0.05). The other risk factors in order were low birth weight, severe anoxia, asphyxia at birth, erythrocythemia, hyperbilirubinemia. There was significant difference between the children exposed to one risk factor and those exposed to two or more risk factors (P <0.05). And there was significant correlation between developmental assessment at 6 and 12 months and mental development at 6 approximately 7 years old (P<0.01).</p><p><b>CONCLUSION</b>The impact of the high risk factors at birth on children's mental development is not negligible. And the risk of development abnormalities will increase if the children were exposed to multiple risk factors. The evaluation of development at 6 approximately 12 months is of predictive value for long-term outcome.</p>