Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC).@*METHODS@#Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of their family members.@*RESULTS@#Child 1 was a 7-month-and-29-day-old male, and child 2 was a 2-year-and-6-month-old male. Both children had shown symptoms of epileptic seizures and multiple hypomelanotic macules. Genetic testing revealed that both children had harbored de novo variants of the TSC2 gene, namely c.3239_3240insA and c.3330delC, which were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as pathogenic (PVS1+PS2+PM2_Supporting).@*CONCLUSION@#This study has uncovered the genetic etiology for two children with TSC. Above findings have also enriched the phenotypic and mutational spectrum of TSC in the Chinese population.

Analysis of CLCN4 gene variant in a child with Raynaud-Claes syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic variant in a child with Raynaud-Claes syndrome (RCS).@*METHODS@#A child who was diagnosed with RCS at the Children's Hospital Affiliated to Zhengzhou University for delayed language and motor development in August 2022 was selected as the study subject. Clinical data of the child were collected, and potential genetic variant was detected by next-generation sequencing and Sanger sequencing. The pathogenicity of the candidate variant was analyzed.@*RESULTS@#The child, a 4-year-and-4-month-old male, has manifested global developmental delay, speech disorders, special facial features and behavioral abnormalities. Genetic testing revealed that he has harbored a hemizygous c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene, which was not detected in either of his parents. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting).@*CONCLUSION@#The c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene probably underlay the PCS in this child. Above finding has expanded the mutational spectrum of the CLCN4 gene and enabled genetic counseling and prenatal diagnosis for his family.

Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia / 中华医学遗传学杂志

OBJECTIVE@#To carry out Sanger sequencing for MMACHC gene variants among 65 Chinese pedigrees affected with combined methylmalonic aciduria and homocysteinemia, and summarize their genetic and clinical characteristics and prognosis.@*METHODS@#Clinical characteristics of the 65 children identified with Methylmalonic acidemia and homocysteinemia at the Children's Hospital Affiliated to Zhengzhou University (Zhengzhou Children's Hospital) from April 2017 to April 2022 were selected as the study subjects. Potential variants of the MMACHC gene were detected by direct sequencing of the PCR products.@*RESULTS@#The median age of the 65 children was 3 months (14 days to 17 years old). These included 28 cases (43.08%) from neonatal screening, 11 cases (16.92%) with a history of jaundice, and 9 cases (13.85%) with various degrees of anemia. The main clinical symptoms included development delay, slow growth, epilepsy, hydrocephalus, lethargy, feeding difficulty, regression or decline in motor ability, recurrent respiratory infections, anemia, jaundice, respiratory and heart failures, hydrocephalus, limb weakness, and hypertension. Blood and urine tandem mass spectrometry screening has revealed increase of methylmalonic acid, propionyl carnitine, propionyl carnitine/acetylcarnitine ratio, and propionyl carnitine/free carnitine ratio to various extents, and blood homocysteine was increased in all patients. The detection rate of genetic variants was 98.46% (128/130), and in total 22 types of MMACHC gene variants were detected. The most common ones have included c.609G>A (W203X) (58/128), c.658-660del (K220del) (19/128), and c.80A>G (Q27A) (16/128). Two novel variants have been identified, namely c.565C>T (p.R189C) and c.624_ 625delTG (p.A208Afs), which were respectively predicted as likely pathogenic (PM2_Supporting+PM3+PP2+PP3) and pathogenic (PVS1+PM2_Supporting+PM3+PP2) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Exon 4 had the highest frequency for the detection.@*CONCLUSION@#Identification of MMACHC gene variants has confirmed the diagnosis in the children, among which the c.609G>A variant has the highest frequency. Discovery of the new variants has enriched the mutational spectrum of the MMACHC gene.

Effects of ICG-001 on autistic behaviors and the development of hippocampal dendritic spine morphology in rats / 中华实用儿科临床杂志

Objective:To explore the effects of the compound ICG-001 on autism-like behaviors and the morphological development of dendritic spines in hippocampal pyramidal neurons of rats.Methods:Healthy Wistar rats were mated.The offspring were divided into the saline-treated group, ICG-001 control group, Sodium valproate (VPA) group and ICG-001 treatment group by using the random number table method.Each group had 12 rats.Social interaction, repetitive, compulsive and anxiety-like behaviors in rodents were assessed by three-chambered social approach, marble burying, open-field and elevated plus maze tests.The number of neuronal nuclei (NeuN)-positive neurons in the hippocampal CA1 region was calculated by the immunofluorescence method.Golgi staining was carried out to detect the density and morphological changes of dendritic spines in hippocampal pyramidal neurons of rats.The expression of phosphorylated LIM kinase 1(LIMK1), phosphorylated actin binding protein(Cofilin), fibros actin (F-actin) and developmentally-regulated brain protein A (Drebrin A) was examined by Western blot.The univariate analysis was made to examine whether the difference was statistically significant, and the data between groups were compared by the Tukey method. Results:(1) In the three-chambered social approach test, the rats in the saline-treated group, ICG-001 control group, VPA group and ICG-001 treatment group spent (219.42±5.38) s, (218.67±10.12) s, (126.58±5.02) s, and (218.58±6.63) s in the chamber, respectively.The corresponding preference score of the said 4 groups were 0.43±0.05, 0.43±0.04, 0.22±0.01 and 0.42±0.04, respectively.Compared with the VPA group, the ICG-001 treatment group spent longer time in the chamber and had a higher preference score (all P<0.05). (2) In the marble burying experiment, the number of marbles buried in said 4 groups were 9.13±0.52, 9.08±0.64, 15.13±0.82 and 9.42±0.86, respectively.ICG-001-treated rats buried markedly less marbles than VPA-exposed rats ( P<0.05). (3) In the open-field test, the rats in the said 4 groups spent (82.33±1.83) s, (81.32±4.19) s, (45.51±3.02) s and (81.44±3.19) s in the center area, respectively.Administration of ICG-001 significantly increased the time that VPA-exposed rats spent in the center area ( P<0.05). (4)In the elevated plus maze trial, the rats in the said 4 groups spent (107.75±7.23) s, (106.08±7.50) s, (63.42±1.91) s and (106.67±7.07) s in open arms, respectively.ICG-001 treatment notably increased the time that VPA-exposed rats spent in open arms ( P<0.05). (5) Immunofluorescence analysis results revealed that the number of NeuN-positive cells in the hippocampal CA1 region of said 4 groups was (41.83±1.17)×10 4/μm 2, (41.00±0.77)×10 4/μm 2, (27.17±0.95)×10 4/μm 2 and (40.00±0.90)×10 4/μm 2, respectively.ICG-001 treatment normalized the alteration in the number of NeuN-containing neurons in VPA-exposed rats ( P<0.05). (6) Golgi staining showed that the density of dendritic spines in hippocampal CA1 pyramidal neurons of said 4 groups was (0.74±0.04)/μm, (0.73±0.03)/μm, (0.49±0.03)/μm and (0.70±0.02) /μm, respectively.Of all types of dendritic spines, mushroom spines accounted for (0.49±0.02)%, (0.49±0.02)%, (0.33±0.02)% and (0.43±0.02) % in said 4 groups.Thin spines accounted for (0.27±0.02)%, (0.26±0.02)%, (0.34±0.01)% and (0.26±0.01) % in said 4 groups, respectively.Compared with the VPA group, the ICG-001 treatment group showed a significant increase in the density of dendritic spines in hippocampal CA1 pyramidal neurons ( P<0.05). After ICG-001 treatment, the number of mushroom spines greatly increased and the number of thin spines sharply decreased in VPA-exposed rats (all P<0.05). (7) According to Western blot test results, the phosphorylated LIMK1/LIMK1 ratio of the hippocampus in said 4 groups were 100.33±2.30, 99.34±2.28, 57.76±4.10 and 99.13±1.90, respectively.The phosphorylated Cofilin /Cofilin ratio were 100.18±2.43, 100.18±1.70, 57.12±1.88 and 99.53±1.69, respectively.The F-actin/globular actin(G-actin) ratio were 100.07±0.86, 99.99±1.72, 51.19±1.23 and 99.28±3.17, respectively.The expression level of Drebrin A were 100.79±1.19, 100.12±2.04, 52.86±3.26 and 99.97±2.44, respectively.Administration of ICG-001 effectively prevented the decrease of phosphorylated LIMK1, phosphorylated Cofilin, F-actin and Drebrin A in the hippocampus of VPA-exposed rats (all P<0.05). Conclusions:ICG-001 regulates the LIMK1/Cofilin signaling pathway, promotes the generation of F-actin, increases the expression of Drebrin A, and thereby alleviates autistic-associated symptoms.

Practice of problem oriented management of hospital′s research expenditure / 中华医院管理杂志

Scientific and reasonable management methods of research expenditure can promote the standardized and orderly development of research work and improve the fund use efficiency. A hospital analyzed the main problems in the management of such expenditure, and began to practice such management based on problems since 2019. By improving the internal control mechanism in terms of the system and process, the hospital took multiple measures to simplify the reimbursement formalities of researchers, dynamically manage the whole process of scientific research projects, and adopted the fund pool management method to allocate hospital′s supporting funds in batches. These measures effectively resolved the main problems and raised the efficiency of fund use.

Clinical characteristics and literature review of a case of Christianson syndrome caused by SLC9A6 gene variation / 中华神经科杂志

Objective:To retrospectively analyze the clinical data of Christianson syndrome caused by SLC9A6 gene mutation and related literatures.Methods:The clinical data of one Christianson syndrome patient caused by SLC9A6 gene variation in Children′s Hospital of Zhengzhou University were collected, meanwhile the relevant literature was reviewed. The examination of video electroencephalogram, auditory brainstem response, and cranial magnetic resonance imaging (MRI) was performed. Whole exon sequencing and mitochondrial gene detection were performed for 3 persons in the family, and the suspected mutation sites were verified by Sanger sequencing.Results:A boy, 7 years old, presented with epilepsy, language retardation and mental retardation. Now he can only say overlapping words, execute simple instructions, denying family history of genetic disease and genetic metabolic disease. The patient′s uncle had the history of febrile convulsions in childhood. At present, speech and intelligence are impaired, and the left limb movement is slightly limited. The patient′s mother was mildly retarded, without epilepsy. The video- electroencephalogram of the patient was shown below (April 2021): abnormal electroencephalogram; background activity was slightly slow; the bilateral frontotemporal region was dominated by multi-focal spiky wave, spiky slow wave and slow wave in each waking and sleeping stage, which can be generalized and extensive; in the sleeping stage, the discharge index in non-rapid eye movement stage was about 75%. The auditory brainstem response was shown below (October 2021): the left 70 dB Ⅰwave latency was prolonged; the Ⅰwave Ⅴ wave shape was poor; the threshold was 20 dB (the high frequency threshold was normal); the right 70 dB Ⅰwave latency was prolonged; the wave form was poor; the amplitude was lower than that of the contralateral side; Ⅲ wave Ⅴ wave shape was poor; the threshold was 30 dB (the high frequency threshold slightly increased). Brain MRI thin-section scan was shown below (January 2021): subarachnoid space of bilateral temporal poles widened, and no obvious abnormal signal was found in brain parenchyma; sinusitis. Whole exome sequencing of 3 persons in the family indicated that the proband had a hemizygous variant c.616C>T (p.R206 *) in the SLC9A6 gene. Using the SLC9A6 gene and Christianson syndrome as the key words, 94 foreign literatures from January 1989 to January 2022 were researched. Totally, 81 Christianson syndrome patients caused by SLC9A6 gene mutation were reported. The age of onset ranged from neonatal period to adulthood, and the clinical manifestations were heterogeneous. The symptoms of male patients mainly included epilepsy, severe cognitive impairment, ataxia, cerebellar atrophy, and psychomotor retardation. Conclusions:The hemizygous variant of SLC9A6 gene (c.616C>T) is the etiology of this patient. The possibility of Christianson syndrome shall be considered for recurrent epilepsy with poor efficacy of antiepileptic drugs, status epilepticus during slow-wave sleep, and delayed development of motor intelligence. Genetic testing is helpful for definite diagnosis and treatment.

3-Hydroxy-isobutyryl-coenzyme A hydrolase deficiency: a case report and literature review / 中华神经科杂志

Objective:To analyze the characteristics of clinical manifestation, auxiliary examination and gene mutation of 3-hydroxy-isobutyryl-coenzyme A hydrolase (HIBCH) deficiency to better understand this disease.Methods:The clinical manifestations and genetic results of a patient with HIBCH deficiency were analyzed. The clinical features and genetic characteristics of HIBCH deficiency were summarized based on the literature review.Results:The proband, female, one year and four months old, was admitted to Children′s Hospital Affiliated to Zhengzhou University for “vomiting and diarrhea for 15 days, dyspnea and intermittent convulsions for 13 days after digestive tract infection”. The intelligence was normal, however, the motor development was slightly delayed before onset. Physical examination showed light coma, poor response and insensitivity to light. She also had shortness of breath, weak positive three concave signs and coarse breath sound in both lungs with sputum purrs. In addition, the muscle tension of extremities was increased. Bilateral Brudzinski′s sign, Babinski′s sign and Kernig′s sign were negative. Serum hydroxybutyryl carnitine (C4OH) was increased. Cranial magnetic resonance imaging (MRI) showed atrophy in bilateral cerebral hemispheres and abnormal symmetry signals in bilateral globus pallidus and cerebral peduncle. Novel compound heterozygous variants of HIBCH, c.489T>A (p. C163*) and c.740A>G (p. Y247C), were found in the patient, which respectively inherited from her healthy parents. Her symptoms were relieved after“cocktail”therapy and symptomatic treatment. Literature related to HIBCH deficiency published all around the world was reviewed. As a result, 17 articles, including 24 cases, had been reported. The majority of patients presented with poor feeding, dystonia and progressive motor developmental delay in early infancy. Cranial MRI showed lesions in bilateral basal ganglia. Serum C4OH concentration was elevated. And compound heterozygous or homozygous variants of HIBCH gene were found in patients with HIBCH deficiency.Conclusions:The detection of serum amino acids and acylcarnitine profiles on HIBCH deficiency was relatively specific and it was helpful to make a clear diagnosis by combining with cranial MRI and genetic tests. In this study, a case of HIBCH deficiency was confirmed, which expanded the mutation spectrum of HIBCH gene. Meanwhile, summarizing the clinical and genetic characteristics of cases reported improved understanding of HIBCH deficiency.

Severe COVID-19 in a newborn / 中华围产医学杂志

We present a case of severe COVID-19 in a male newborn. A 22-day infant was transferred to Children's Hospital Affiliated to Zhengzhou University due to "intermittent fever for 18 days". The parents of the infant had been living in Wuhan and returned to Xinyang 9 days before delivery. Suspecting COVID-19 infection, a cesarean section was performed at 38 gestational weeks. The diagnosis of COVID-19 in the mother was confirmed at 2 days postpartum, as well as the father and the grandparents-in-law within 5 days postpartum. The baby developed fever and cough 5 days after birth, and a positive result for the new coronavirus nucleic acid test in the pharyngeal swab was shown 6 days after birth. The fever continued intermittently for 18 days, whilst nasal catheter oxygen inhalation treatment was administered. The percutaneous oxygen saturation decreased to 79% after cessation of oxygen, and the baby was transferred to the hospital for further treatment. After admission, the infant presented with cough, occasional choke, shortness of breath despite nasal catheter oxygen inhalation, increased heart rate, low urine volume, and an enlarged liver 2 cm below the right costal margin. The baby was diagnosed with severe COVID-19 accompanied by anemia, hyperkalemia, pneumonia, and atrial septal defect seen on the echocardiogram. After isolation in an incubator, oxygen inhalation, cardiotonic intervention, blood transfusion and antiviral treatment, the patient made a good recovery, with good breastfeeding, significant resorption of the lung inflammation and no fever or respiratory symptoms. The baby was discharged 14 days after hospitalization, with negative results for nucleic acid test of pharyngeal swab for 2 consecutive times.

Study on the association of dietary patterns of Shaanxi women of childbearing age during pregnancy with adverse pregnancy outcomes from 2010 to 2012 / 中华预防医学杂志

Objective@#To analyze the types of dietary patterns of women during pregnancy in Shaanxi and their association with adverse pregnancy outcomes.@*Methods@#Data were derived from a cross-sectional program named "The prevalence and risk factors of birth defects in Shaanxi Province" from July to November in 2013. A multi-stage stratified random sampling method was used to extract 15 980 women of childbearing age who met the inclusion exclusion criteria from Shaanxi Province. The questionnaire obtained information such as the pregnancy outcome and the food intake of the study subjects during pregnancy. The dietary pattern was extracted by factor analysis, and the each dietary pattern of subjects were divided into T1-T3 groups according to the factor score. The effects of each dietary pattern on major adverse pregnancy outcomes were estimated by unconditional logistic regression model.@*Results@#Four dietary patterns were established:vegetarian pattern, balanced pattern, traditional pattern, and processing pattern. The multivariate logistic regression model results showed that compared with the vegetarian pattern T2 group, the T1 group had lower risk of low birth weight (OR=0.56, 95%CI: 0.41-0.83), and the T3 group had higher risk of low birth weight in offspring (OR=2.32, 95%CI: 1.59-3.89); compared with the traditional pattern T2 group, the T3 group had higher risk of premature (OR=2.62, 95%CI: 1.58-5.01); compared with the balanced pattern T2 group, the T3 group had a lower risk of spontaneous abortion (OR=0.73, 95%CI: 0.36-0.89); compared with the processing pattern T2 group, the T3 group had a higher risk of spontaneous abortion (OR=1.97, 95%CI: 1.36-3.34) and higher risk of stillbirth (OR=2.96, 95%CI: 1.49-6.26), and the T1 group had a lower risk of stillbirths in offspring (OR=0.52, 95%CI: 0.33-0.83).@*Conclusion@#The women of childbearing age in Shaanxi have different dietary patterns, and there may be a correlation between dietary patterns and adverse pregnancy outcomes.

Evaluation of the influenza vaccine effectiveness among children aged 6 to 72 months based on the test-negative case control study design / 中华预防医学杂志

Objective@#To assess the effectiveness of seasonal influenza vaccine among children aged 6 to 72 months.@*Methods@#The test-negative case control study was conducted based on available surveillance data which was from China Influenza Surveillance Information system (CSIS). From October 2016 to April 2017 and from October 2017 to April 2018,1 161 cases aged 6-72 months with influenza-like illness in Yongkang and Yiwu city, were selected as the study subjects, and the cases with influenza test-positive were selected as the case group (403 cases). Test-negative subjects were selected as control group (758 cases). The etiology and immunization data of the subjects were obtained from CSIS and Immune Information and Management System (IIMS) respectively. Vaccine effectiveness was estimated using multivariate logistic regression model,and the mixed effects of non-randomized control in TNCC study were equalized by using the propensity score (PS) method in the statistical analysis.@*Results@#The age of the subjects was (2.44±1.60) years,and there were 681 boys (58.66%). The age of case group was (2.62±1.58) years, and there were 246 boys (61.04%). The case group was including of 237 cases (58.81%) of influenza A (H3N2), 92 cases (22.83%) of influenza A (H1N1) pmd09, 62 cases (15.38%) of influenza B(Victoria) lineage, 11 cases (2.73%) of influenza B (Yamagata) lineage and one case (0.25%) co-infection of influenza [A(H3N2)+B (Victoria)]. The mean age of the control group was (2.35±1.61) years,and there were 435 boys (57.39%). Overall vaccine effectiveness (VE) against all type influenza for two seasons combined was 58% (95%CI: 31%-74%). An analysis by age groups showed 68% (95%CI:41%-82%) of the VE estimate among children aged 36-72 months while it was 28%(95%CI:-80%-71%)of the VE estimate among children aged 6-35 months. The VE estimate value was 54% (95%CI:16%-75%) against all type influenza and 65% (95%CI:24%-83%) against influenza A (H3N2) during the 2016-2017 season. During the 2017-2018 season, the VE estimate value was 69% (95%CI:18%-88%) against all type influenza.@*Conclusion@#Influenza vaccine is effective in preventing influenza virus infection during the flu season,especially the effect among children aged 36-72 months is higher compared to that among children aged 6-35 months.

Clinical analysis of 27 cases with infantile diabetes / 中华内分泌外科杂志

Objective To investigate the clinical features,diagnosis and treatment of infantile diabetes.Methods The clinical data of 27 infants with type 1 diabetes (T1DM) admitted to our hospital from Apr.2014 to Jun.2016 were retrospectively analyzed.SPSS16.0 statistical software was used to carry out t test and chisquare test on relevant data.Results The onset age of diabetes in infants and young children was 1 year to 3 years and 7 months.There were 15 males and 12 females.The onset season was mainly in winter and spring.The fasting blood glucose in cesarean section was significantly higher than that in natural production group (P＜0.05).12 cases(44.44％) were complicated with respiratory infections before the onset of the disease,including 6 cases of pathogenic detection of viruses,mainly Coxsackie virus.Among them,14 cases were admitted to hospital with polydipsia and polyuria,6 cases had fever,cough and mental retardation,7 cases had elevated blood glucose,16 cases (62.50％) and 6 cases of women with diabetic ketoacidosis (37.50％).The incidence of diabetic ketoacidosis in male diabetic patients was higher than that in females (62.50％ vs 37.50％,x2=6.49,P＜0.05).With abnormal liver function and dyslipidemia in 2 cases;myocardial enzyme abnormality in 7 cases;abnormal thyroid function in 10 cases;26 cases of electrolyte abnormality,mainly hyponatremia;2 cases of positive anti-insulin antibody and 5 cases of positive glutamic acid decarboxylase antibody.Before admission,13 (35.14％) cases were misdiagnosed,6 cases were misdiagnosed as bronchopneumonia,3 cases were misdiagnosed as central nervous system infection,3 cases were sepsis and 1 case was myocarditis.All patients were treated with insulin.After 7 to 10 days of treatment,the patient's condition improved and continued to be treated at home.Conclusions The clinical manifestations of infantile T1DM onset are not typical,and it is easy to be associated with ketoacidosis.Infection may be one of the important causes of diabetic ketoacidosis.When the child has an infection and the blood sugar level is high,attention should be paid to the occurrence of diabetic ketoacidosis,to avoid misdiagnosis.

Status survey of sexual development of boys aged 6 to 13 years old from Zhengzhou area / 医学研究生学报

Objective Boy sexual development is affected not only by age, but also by environment factors .The present study was to survey and evaluate the status of sexual development in boys from Zhengzhou area and to explore their influencing factors. Methods The height, weight, waist circumference, hip circumference, penis and testicles in 3779 boys aged from 6 to 13 years old in Zhengzhou were measured .The penis length and testicular volume of different ages and their influencing factors were compared, and the beginning age and sexual development characteristics were explored .The development of genitalia and pubes were evaluated by Tanner staging criteria and standards, which were divided into five stages. Results There were 3779 boys, including 395 overweight cases (10.45%) and 208 obesity cases (5.50%).The testicular volume and penis length increased by age, which increased slowly at the age of 6 to 11, followed by a rapid increase after the age of 11 year old.Testicular volume increased more rapidly than that of penis length. The medians quartile of testicular volume in overweight group ,obese group and normal group were 2.50 mL, 2.50 mL, 2.00 mL, 2.00 mL,2.00 mL,1.00 mL respectively .The testicular volume in overweight group and obese group were significantly greater than that in nor -mal group (P<0.01) and there were no difference between overweight group and obese group .The penis length in overweight group and obese group were significantly less than that in normal group (P<0.01), and there was no difference between overweight group and obese group.Testicular volume and penis length were positively correlated with age, height, weight, body mass index, waist circumference and hip circumference; the correlation between testicular volume and height, penis length and age were the strongest. The age of development of testicle (average 12.02 years) in urban area was later by 2.73 years than that in the rural area (average 9.9 years), the difference was statistically significant (P<0.001).The age of pubic development (P2) and maturity (P5) was (12.34 ±0.83) years and (12.39 ±1.24 ) years.The incidence of precocity in boys was 0.40%. Conclusion The sexual development of boys from Zheng-zhou area is similar to the results of large scale survey from China .Attention should be paid to the effect of obesity on sexual develop-ment, and early intervention should be given, the occurrence of adverse events of sexual development can be avoided .

Anthropometric indicators correlated with blood pressure in children / 临床儿科杂志

Objective To investigate the correlation of anthropometric indicators and blood pressure in children. Methods A total of 6 790 children aged 6 to 13 years were inspected by random sampling. The body mass index (BMI), waist circumference (WC), hip circumference (HC), and blood pressure were measured. The waist/hip ratio (WHR) and waist/height ratio (WHtR) were calculated. The data wrer analyzed by SPSS16.0 statistical software. Results The detection rate of hypertension in children was 5.57%. After controlling for age, both in male and female children, the BMI, WC, HC, WHR, WHtR and systolic blood pressure showed a significant positive correlation by partial correlation analysis (all P<0.05). Both in male and female children, the BMI, WC, HC, WHR, and WHtR were significantly higher in children with hypertension than those in children with normal blood pressure (all P<0.05). Among all subjects, 280 children (4.12%) were obese, 622 children (9.16%) were overweight. The detection rates of hy-pertension were significantly different among obese, overweight and normal weight children (P<0.01). The detection rate of hypertension was significantly higher in obese children than that in overweight and normal weight children. The systolic and diastolic blood pressure were all significantly higher in obese and overweight children than that in normal weight children (P<0.05). Conclusion The hypertension prevalence of children aged 6 to 13 years in Zhengzhou is in the low to median level in the same age groups. The BMI, WC, HC, WHR, WHtR are signiifcantly correlated with blood pressure in both gender, and the correlation is the most obvious in HC.

Meta-analysis of CTLA-4 promoter-49 A/G polymorphism and Graves' disease in China / 中华内分泌外科杂志

Objective To summarize the correlation between cytotoxic T lymphocyte associated antigen-4 (CTLA-4) promoter-49 A/G polymorphism and Graves' disease (GD)in China.Methods The publications before Sep.30,2011 about the correlation between CTLA-4 promoter-49 A/G polymorphism and GD in China were collected by searching CNKI,CBM,and Wanfang database.Meta-analysis was performed to check the difference of genotypes such as AG,GG,GG + AG,and G allele between GD group and the control group.Results A total of 6 studies involving 570 cases in GD group and 486 cases in the control group were included in the meta-analysis.According to the heterogeneity of these studies,meta-analysis was performed to analyze the correlation between AG,GG,GG + AG genotype,G allele and GD by fixed effects model.The pooled OR value(95％ CI) of various studies was 1.97 (1.37-2.82),3.66 (2.42-5.53),2.55 (1.82-3.58),and 1.99 (1.49-2.65).Conclusion The meta-analysis demonstrates that CTLA-4 promoter-49 A/G polymorphism increases the possibility of getting GD in Chinese.