Quality of life in children with McCune-Albright syndrome and its influencing factors / 中华实用儿科临床杂志

Objective:To investigate the quality of life in children with McCune-Albright syndrome (MAS) and its influencing factors, so as to provide scientific basis for improving their quality of life.Methods:The clinical data of 31 children with MAS diagnosed (MAS group) and followed up in Henan Children′s Hospital from June 2015 to December 2021 were retrospectively analyzed.During the same period, 37 healthy age and sex-matched children at a ratio of 1∶1 were recruited as healthy control group.The children′s Quality of Life Universal Core Scale (PedsQL?4.0) was used for the investigation and comparative analysis.Statistical analysis was performed using the independent sample t test, Chi- square test and multiple regression analysis. Results:Compared with the healthy control group, the physiological function ( t=2.092, P<0.05), emotional function ( t=2.373, P<0.05) and total score ( t=2.360, P<0.05) of MAS group significantly decreased.Multiple regression analysis showed that physiological function was negatively correlated with the annual number of vaginal bleeding ( t=-2.367, P<0.05) and the age of first fracture ( t=-2.606, P<0.05). Social function was negatively correlated with the number of fractures ( t=-2.481, P<0.05). Conclusions:The overall quality of life of MAS children is low, especially the quality of physiological function and emotional function.The annual number of vaginal bleedings, the age of the first fracture and the number of fractures are influencing factors for the reduction of the quality of life of children with MAS.

Five patients with 11β-hydroxylase deficiency due to CYP11B1 gene mutation: A case study / 中华内分泌代谢杂志

Objective:To investigate the clinical and molecular characteristics of 11β-hydroxylase deficiency(11β-OHD) to improve the understanding of this disorder.Methods:The clinical manifestation, hormone level, imaging examination, characteristics of gene variation and follow-up of five patients with 11β-OHD diagnosed in Henan Children′s Hospital from 2016 to 2021 were carefully reviewed.Results:Among the 5 children, 3 were male and 2 were female, all without positive family history. The age at diagnosis was 1 year 5 months to 7 years(average 3 years and 9 months), and the bone age was 3 years 6 months to 16 years(average 10 years and 3 months). Two cases were misdiagnosed as 21-hydroxylase deficiency(21-OHD) and treated with long-term mineralocorticoids. Three patients presented with hypertension and one patient had testicular adrenal rest tumor. Adrenal CT showed bilateral adrenal hyperplasia in five patients. ACTH, 17-hydroxyprogesterone, testosterone, and androstenedione levels were increased in 5 children, and hypokalemia occurred in 1 patient. One patient carried homozygous novel missense variant, and four patients had compound heterozygous variants. Four patients carried missence mutations, two patients had deletion and one patient harbored a chimeric CYP11B2 exon1-6/CYP11B1 exon7-9. Three novel CYP11B1 mutations, including c. 1385T>C(p.L462P), c.64C>T(p.Q22*)and c. 1354G>A(p.G452R) were identified. The final height of 2 male children were 164.4 cm and 150.2 cm, respectively, and the related hormone levels of the other 3 children were normal.Conclusion:11β-OHD is easily misdiagnosed, leading to severe impairment of final height. CYP11B1 gene variation is complex and diverse, which requires variety of gene detection methods.

Expression and significance of serum microRNA-122 in children with nonalcoholic fatty liver disease / 中华内分泌外科杂志

Objective:To study the expression of serum microRNA-122 (miR-122) in children with non-alcoholic fatty liver disease (NAFLD) .Methods:35 NAFLD children aged 7-14 years from the department of Endocrinology and Inherited Metabolic disease, Children’s Hospital Affiliated to Zhengzhou University were collected, and 43 healthy children healthy children matched with the gender and age as the control group. The height, weight, body mass index (BMI) , waist-hip ratio (WHR) , triglyceride (TG) , cholesterol (TC) , alanine transaminase (ALT) , aspartate aminotransferase (AST) and miR-122 levels of the children in the two groups were detected and recorded.Results:There was no significant difference in age between NAFLD group (9.97±1.93 years) and control group (10.28±1.68 years) ( P=0.455) . Body weight (65.91±15.94kg) , BMI (29.93±3.77kg/m2) , WHR (0.97±0.04) , TG (1.49±0.46mmol/L) , TC (3.96±0.67mmol/L) , ALT (32.7±15.65U/L) and the level of miR-122 (2.33±1.75) in the NAFLD group was higher than that in the control group (36.93±7.54kg, 17.75±1.60kg/m 2, 0.83±0.04, 0.94±0.18mmol/L, 3.55±0.53mmol/L, 19.77±4.3U/L) , the differences were statistically significant ( P<0.05) . The levels of miR-122 in the NAFLD group were positively correlated with ALT and AST (r=0.618, 0.487, P < 0.05) . The ROC curve was used to evaluate the efficacy of miR-122 in diagnosing NAFLD, and the area under the curve of miR-122, ALT and ALT+ miR-122 in diagnosing NAFLD was 0.824, 0.727 and 0.839, respectively. MiR-122 combined with ALT had an advantage in diagnosing NAFLD. Conclusion:The levels of miR-122 in children with NAFLD were positively correlated with ALT. MiR-122 combined with ALT has clinical value in diagnosing NAFLD.

Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics of a patient with congenital isolated adrenocorticotropic hormone deficiency (IAD).@*METHODS@#Clinical characteristics of the patient was reviewed. Genomic DNA of the child was subjected to whole exome sequencing.@*RESULTS@#Genetic testing has confirmed the diagnosis of congenital IAD by identification of compound heterozygous variants of the TBX19 gene, which included a pathogenic nonsense c.535C>T (p.R179X) variant inherited from his father and a novel missense c.298C>T (p.R100C) variant inherited from his mother.@*CONCLUSION@#Congenital IAD due to variants of the TBX19 gene is a rare autosomal recessive disease. It is characterized by low plasma adrenocorticotropic hormone and cortisol levels but normal levels of other pituitary hormones. Delayed diagnosis may lead to severe early-onset adrenal failure and wrong treatment which may result in neonatal mortality. Hydrocortisone replacement is effective. Detection of pathogenic variant of TBX19 gene is the key to diagnosis.

Correlation of visceral fat distribution and carotid artery elasticity in severely abdominal obese children by RF-data based quantitative analysis on vessel stiffness / 中华超声影像学杂志

Objective:To evaluate the carotid artery elasticity in severely abdominal obese children by RF-data based quantitative analysis on vessel stiffness (R-VQS), and explore the correlation between visceral fat distribution and carotid artery elasticity.Methods:Seventy severely abdominal obese children aged 7-14 years old and 55 healthy children with normal body mass index were selected as obese group and control group in Children′s Hospital Affiliated to Zhengzhou University from July 2018 to July 2019. Epicardial fat thickness (EFT), visceral fat thickness (VFT), subcutaneous fat thickness (SFT), maximum preperitoneal fat thickness (PFTmax), minimum subcutaneous fat thickness (SFTmin), perirenal fat thickness (PRFT) were measured by ultrasound. Real-time intima-media thickness (RIMT) and R-VQS were employed to evaluate common carotid intima-media thickness (IMT), systolic diameter (Diam), distance (Dist), pulse wave velocity (PWV) and hardness coefficient (HC). The correlation between fat thickness and carotid artery elasticity was analyzed.Results:There were statistically differences of common carotid IMT, elasticity parameters (IMT, Diam, Dist, PWV, HC) and fat thickness (EFT, VFT, SFT, PFTmax, SFTmin, PRFT) between two groups ( P<0.05). In obese children, PFTmax, VFT, EFT, PRFT were positively correlated with IMT, PWV, and HC (with IMT: r=0.334, 0.425, 0.415, 0.370, P<0.05; with PWV: r=0.853, 0.744, 0.590, 0.358, P<0.05; with HC: r=0.822, 0.691, 0.526, 0.320, P<0.05), and there was no correlation between SFT, SFTmin and IMT, PWV, HC( P>0.05). The degree of correlations between visceral fat thickness and carotid artery elasticity was PFTmax>VFT>EFT>PRFT, however, the correlations between EFT, PRFT and carotid elastic elasticity were weak ( r<0.7). Conclusions:R-VQS can sensitively reflect the carotid artery elasticity in severely abdominal obese children, and it can be used as an important reference indicator for early evaluation of atherosclerosis in obese children. Their visceral fat thickness (EFT, PRFT, VFT and PFTmax) have a good correlation with carotid artery elasticity, among which PFTmax has the best correlation and shows a certain clinical significance for the treatment and follow-up of obese children.

Clinical analysis of nine cases with critical corona virus disease 2019 in Hainan Province / 中华传染病杂志

Objective:To explore the clinical features of critical cases of corona virus disease 2019 (COVID-19).Methods:The clinical data of nine patients who were diagnosed with critical COVID-19 in Hainan General Hospital from January 21 to February 6, 2020 were retrospectively analyzed. There were eight males and one female enrolled. The patients aged 28 to 77 years old, with an age of (52.9±18.0) years. Reverse transcription-polymerase chain reaction testing for 2019 novel coronavirus (2019-nCoV) was performed with multi-sites synchronize specimens including pharyngeal swab, blood, excrement and urine. The deadline of follow-up was March 4, 2020. The serum levels of leukocyte, C reactive protein, procalcitonin and lactic acid between the improved group (five cases) and the deteriorated group (four cases) were compared. The t test was used for comparison of normally distributed continuous data between groups. Results:Among nine patients, five cases were cured and discharged, three cases died and one case remained in critical condition. All multi-sites specimens of patients in improved group turned negative in 2 to 4 weeks of illness onset, while those of cases in deteriorated group showed sustained viral nucleic acid positive (up to 48th day of illness onset). The white blood cell counts ((13.52±8.24)×10 9/L vs (10.49±4.46)×10 9/L), C reactive protein ((139.71±87.46) mg/L vs (78.60±55.40) mg/L) and procalcitonin ((4.03±2.32) μg/L vs (0.58±0.28) μg/L), lactic acid ((4.14±3.70) mmol/L vs (2.33±0.53) mmol/L) in deteriorated group were all significantly higher than those in improved group ( t=2.908, 5.009, 4.391 and 2.942, respectively, all P<0.01). A rapid rise of serum interleukin-6 level up to 8 500 ng/L was observed in one patient three days prior to death. Conclusion:Among the patients with critical COVID-19, serum levels of inflammatory cytokines of the death cases are higher than those of improved and discharged cases.

Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics of a patient with dihydrolipoamide dehydrogenase deficiency.@*METHODS@#Potential variants of the DLD gene were detected by whole exome sequencing and verified by Sanger sequencing.@*RESULTS@#Compound heterozygous variants, c.704_705delTT (p.Leu235Argfs*8) and c.1058T>C (p.Ile353Thr), were detected in the DLD gene. The c.1058T>C (p.Ile353Thr) variant was derived from his mother and known to be pathogenic. The c.704_705delTT (p.Leu235Argfs*8) variant was derived from his father and was unreported previously.@*CONCLUSION@#The compound heterozygous variants of c.704_705delTT (p.Leu235Argfs*8) and c.1058T>C (p.Ile353Thr) of the DLD gene probably underlay the disease in this patient. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.

Clinical analysis of nine cases with critical corona virus disease 2019 in Hainan province / 中华传染病杂志

Objective To explore the clinical features of critical cases of coronavirus disease 2019 (COVID-19). Methods The clinical data of nine patients who were diagnosed with critical COVID-19 in Hainan General Hospital from January 21, 2020 to February 6, 2020 were retrospectively analyzed. RT-PCR testing for 2019 novel coronavirus (2019-nCoV) was performed with multi-sites synchronize specimens including pharyngeal swab, blood, excrement, and urine. The serum levels of leucocyte, C-reactive protein, procalcitonin and lactic acid between the improved group (five cases) and the deteriorated group (four cases) were compared. The t test was used for comparison of normally distributed continuous data between groups. Results There were eight males (88.9%) and 1 female enrolled. The patients aged 28-77 years old, with an age of (52.9±18.0) years. By March 4, 2020, all five cases in improved group were cured and discharged, three cases in deteriorated group died and 1case remained in critical condition. All multi-sites specimens of patients in improved group turned negative in 2-4 weeks of illness onset, while those of cases in deteriorated group showed sustained viral nucleic acid positive (up to 48th day of illness onset). The white blood cell counts ((13.52±8.24)×10 9 /L vs (10.49±4.46) ×10 9 /L), C-reactive protein ((139.71±87.46) mg/L vs (78.60±55.40) mg/L) and procalcitonin ((2.32±4.03) ng/mL vs (0.28±0.58) ng/mL) , lactic acid ((3.70±4.14) mmol/L vs (2.33±0.53) mmol/L) in deteriorated group were all significantly higher than those in improved group ( t =2.908, 5.009, 4.391 and 2.942, respectively, all P <0.01). A rapid rise of serum IL-6 level up to 8 500 pg/mL was observed in one patient three days prior to death. Conclusion Among the patients with critical COVID-19, serum levels of inflammatory cytokines of the death cases are higher than those of improved and discharged cases.

Genetic analysis of a child with fructose-1, 6 bisphosphatase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To analyze the genetic variant of a child with fructose-1, 6 bisphosphatase deficiency.@*METHODS@#Potential variant of the FBP1 gene was detected by next generation sequencing and verified by Sanger sequencing.@*RESULTS@#A compound heterozygous variant, c.826-2T>C and c.490G>A (p.Gly164Ser), was detected in the FBP1 gene. Among them, the c.490G>A(p.Gly164Ser) variant was derived from his mother and known to be pathogenic. The c.826-2T>C variant was derived from his father and was not reported previously.@*CONCLUSION@#The compound heterozygous variant of c.826-2T>C and c.490G>A(p.Gly164Ser) of the FBP1 gene probably underlie the disease in this patient. Genetic testing can facilitate diagnosis and genetic counseling and prenatal diagnosis.

Mutation analysis of a pedigree affected with brachydactyly type E2 and obesity / 中华医学遗传学杂志

OBJECTIVE@#To identify pathogenic mutation in a pedigree affected with brachydactyly and obesity.@*METHODS@#Peripheral blood sample was collected for extraction of genomic DNA. Exons capture combined with next generation sequencing (NGS) was carried out to identify potential mutation. Sanger sequencing was used to verify the results.@*RESULTS@#NGS has identified a novel heterozygous missense mutation (c.125A>C, p.Gln42Pro) in the exon 1 of PTHLH gene. The result was verified by Sanger sequencing. The mutations was derived from his mother. His uncle and sister have also carried the same heterozygous mutation.@*CONCLUSION@#A novel mutation of the PTHLH gene has been identified in a pedigree affected with brachydactyly type E2 and obesity.

Clinical and molecular genetic characterizations of 7 children with X-linked adrenal hypoplasia congenita / 中华实用儿科临床杂志

Objective To analyze the clinical and molecular genetic characterizations of X-linked adrenal dysplasia congenita(AHC) onset in infant.Methods Seven children (from 7 families) with X-linked AHC who were admitted to the Department of Endocrinology,Genetics and Metabolism,Children's Hospital Affiliated to Zhengzhou University,from July 2012 to June 2017 were selected.All patients were screened for dosage-sensitive-sex reversal-adrenal hypoplasia congenital critical region on the X chromosome gene1 (DAX1/NR0B1) mutations.The clinical manifestation and laboratory examination were analyzed,their clinical characterizations were summarized.Results Seven patients were all male,the onset age of the patients were from after birth to 7 months old,and 4 patients (4 families) had a family history of X-linked recessive inheritance.The clinical manifestations were skin pigmentation [100.0％ (7/7 cases)],vomiting [71.4％ (5/7 cases)],no weight gain [57.1％ (4/7 cases)] and poor spirit [28.6％ (2/7 cases)].Laboratory tests showed that hyperkalemia and hyponatremia,increased coricotrophin,normal or decreased cortisol,17α-hydroxyprogesterone,progesterone,aldosterone and dehydroepiandrosterone.Testosterone levels increased in 5 patients.The abnormalities of adrenal glands imaging could be seen in 2 patients.Two patients were misdiagnosed as congenital adrenal cortical hyperplasia.Then the definitive diagnosis were made by genetic test.DAX1/ NR0B1 gene mutations were found in all patients.Five patients were novel mutations (c.114_126del,c.872G ＞ A,c.56delG,c.884T ＞ G,c.1217delG).Conclusions The clinical manifestations of X-linked AHC with infant onset include pigmentation,poor spirit and growth retardation,which should be differentiated from congenital adrenal cortical hyperplasia.Hormone levels such as elevated blood 17α-hydroxyprogesterone and family history are the main identification points,and AHC cannot be excluded when testosterone level increases.Five novel mutations are found in this study,which enrich the gene database.

Clinical characteristics and risk factors in pregnancy with severe community-acquired pneumonia / 中华妇产科杂志

Objective To analyze clinical characteristics of severe community-acquired pneumonia during pregnancy and its outcomes, and to explore the relevant risk factors. Methods From September 2012 to September 2017,324 398 pregnancies admitted in 7 tertiary hospitals were included. Clinical data of 33 cases of pregnancies with severe community-acquired pneumonia(severe pneumonia group)and 214 cases of pregnancies with common community-acquired pneumonia (control group) were reviewed retrospectively, including the clinical information, manifestations, laboratory examinations and pregnancy outcomes. Relevant risk factors were analyzed by multivariate logistic regression analysis. Results (1) General data: pregnancies with severe community-acquired pneumonia accounted for 0.010%(33/324 398) of hospitalized pregnancies, the gestational age of two groups were(28±8)and(23±8)weeks, body mass index were(21.7±2.1)and(25.5±3.4)kg/m2, rate of low income were 54.5%(18/33)and 31.8%(68/214), respectively. The differences between two groups were all statistically significant(all P<0.05). No significant differences were found in age, pregnancy and parity times, rate of main pregnant complications such as diabetes and hypertension, educational level, asthma and onset seasons between two groups(all P>0.05). (2)Clinical data: the severe pneumonia group had significantly higher incidence of fever [100.0%(33/33)vs 75.2%(161/214)], shortness of breath(90.9% vs 16.8%)compared with the control group(all P<0.05).The median peripheral leukocytes counts were 12.3×109/L and 10.2×109/L, the hemoglobin level were(84±18) and(107±14)g/L,the albumin level were(26±4)and(37±3)g/L, the median serum urea nitrogen level were 3.7 and 2.4 mmol/L,the serum creatinine level were(72±25)and(45±11)μmol/L, respectively in two groups. The differences were all statistically significant (all P<0.05). No significantly statistical differences were found in coagulation indicator and cardiac function between two groups(all P>0.05).(3) Treatments: in severe pneumonia group, 12 patients(36.4%,12/33)needed invasive mechanical ventilation, 9 patients(27.3%,9/33)needed non-invasive mechanical ventilation, average time of mechanical ventilation was(7±4)days;8 patients(24.2%,8/33)with septic shock needed vasoactive drugs. However, there was no patient in control group needing mechanical ventilation and vasoactive drugs.(4)Pregnant outcomes: one patient(3.0%,1/33)died in the severe pneumonia group, while no death occurred in the control group. The hospital stay between two groups were(15.1±4.1)and(7.0±1.9)days, the rates of abortion and stillbirth between two groups were 42.4%(14/33)and 3.3%(7/214), the rates of premature were 10/19 and 6.3% (13/207), the rates of cesarean were 15/19 and 43.0%(89/207), the rates of low birth weight newborn were 17/19 and 14.0%(29/207), the rates of infected newborn were 15/19 and 10.1%(21/207), the birth weights were(2 165±681)and(3 102±400)g, respectively. The differences between two groups were all statistically significant(all P<0.05).(5)Multivariate logistic regression analysis demonstrated that anemia, low body mass index, hypoproteinemia were risk factors for severe pneumonia in pregnancy(all P<0.05). Conclusions Pregnancy with severe community-acquired pneumonia may be complicated by multiple organ dysfunctions, lead to adverse outcomes. Anemia, malnutrition are risk factors for pregnancy with severe pneumonia. Active and effective treatment may improve its prognosis.

Cytotoxicity of cyflumetofen on SH-SY5Y cells and possible mechanism / 中国药理学与毒理学杂志

OBJECTIVE To investigate the cytotoxicity of cyflumetofen for SH-SY5Y cells and the mechanism. METHODS SH-SY5Y cells treated with cyflumetofen 0.03, 0.06, 0.125, 0.25, 0.5, 1, 2, 2.6, 4, 6, 8 and 16 mmol·L-1 for 48 h. Cell survival was measured with MTT assay. The reactive oxygen species (ROS) was determined with the DCFH- DA probe, and mitochondrial membrane potential (MMP) was detected by JC-1 staining. The morphological changes in cell nuclei were observed with Hoechst33258 staining. Cell cycle and apoptosis were determined by flow cytometry. The protein levels of phosphorylated Jun Kinase (p-JNK) and p-P38 were measured by Western blotting. RESULTS Compared with solvent (DMSO) control group, cyflumetofen (≥0.06 mmol · L- 1) inhibited the proliferation of SH- SY5Y cells obviously (P<0.05), and the IC50 was 2.6 mmol·L-1. MMP declined and ROS levels increased significantly in cyflumetofen 1, 2, 4 and 6 mmol·L- 1 groups (P<0.01). Cyflumetofen 2, 4 and 6 mmol·L- 1 induced nucleic accumulation, nuclear shrinkage and disintegration in SH-SY5Y cells. Apoptosis rates of cyflu? metofen 2, 4 and 6 mmol·L- 1 groups increased from (0.7±0.1)% in DMSO control group to (6.7±0.1)%, (72.4±8.6)% and (90.7±3.2)% (P<0.01). Cyflumetofen 4 and 6 mmol·L- 1 induced G1 phase cell cycle arrest (P<0.01). In addition, Western blotting showed that cyflumetofen 4 and 6 mmol·L-1 up-regulated the expression of p-JNK (P<0.01), while the level of p-P38 in SH-SY5Y cells was increased in cyflumetofen 6 mmol · L- 1 group (P<0.01). CONCLUSION Cyflumetofen induces cell damage, apoptosis and G1 phase cell cycle arrest in SH- SY5Y cells. The mechanism may be associated with oxidative damage, and activation of P38 and JNK stress-response pathways.

Analysis of clinical features and GALNS gene mutation in a patient with mucopolysaccharidosis type IV A / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation of galactosamine-6-sulfate (GALNS) gene in a Chinese girl affected with mucopolysaccharidosis type IV A (Morquio A syndrome).</p><p><b>METHODS</b>The patient was diagnosed by assaying the activities of mucopolysaccharidosis-related enzymes in leukocytes. Potential mutation in the GALNS gene was detected with PCR and Sanger sequencing.</p><p><b>RESULTS</b>The patient was characterized by short stature, skeletal deformities, normal intelligence, and auditory dysfunction. The activities of GALNS enzymes were low. A compound heterozygous missense mutation, c.1094G>T (p.Gly365Val)/c.938C>T (p.Thr313Met), was detected in the GALNS gene. The mutations were respectively inherited from her father and mother. Among them, the c.1094G>T (p.Gly365Val) mutation was not reported previously.</p><p><b>CONCLUSION</b>The mutations c.1094G>T (p.Gly365Val)/c.938C>T (p.Thr313Met) probably underlie the pathogenesis of the disease in our patient.</p>

The NROB 1 gene missense mutation causes congenital adrenal dysplasia:a case report / 临床儿科杂志

Objective To explore the clinical feature and diagnosis of the X linked adrenal hypoplasia congenital (X-AHC). Methods The clinical data and gene detection results of one case of AHC were retrospectively analyzed. The related literatures were reviewed. Results Two-month-old male infant was suffered with slow weight gain, vomiting, and salt craving of adrenal insufifciency after birth. Gene detection found a new missense mutation on NROB 1 gene. The diagnosis of X-AHC was conifrmed. Conclusions X-AHC is a kind of rare disease and is diagnosed by clinical manifestation, laboratory testing, and NROB 1 gene detection.

Analysis of clinical and genetic results in one case of very long chain acyl-CoA dehydrogenase deficiency / 中华内分泌代谢杂志

Clinical characteristics were analyzed in a child with very long chain acyl-CoA dehydrogenase deficiency( VLCADD) . The gene analysis was performed in 20 exon all coding regions and 10 bp shear zone in the very long chain acyl-CoA dehydrogenase( VLCAD) gene of the case and his family members by direct sequencing of PCR-DNA from peripheral blood. The results showed that the patient presented with acute onset, clinical manifestations of repeated vomiting, poor spirit, abnormal liver function, increased myocardial enzyme kinase. At the age of one year old, this child was diagnosed with Reye's syndrome for liver injury. Genetic testing results revealed that E14 c. 1349G>A, p. R450H heterozygous mutation in VLCAD gene was found in this case, his mother, and his younger sister, and E15 c. 1532G>A, p. R511Q heterozygous mutation was found in this case and his father. The pathogenic genes of the case are from his mother and the younger sister is a carrier.

One case report of neonatal onset Crohn disease / 临床儿科杂志

ObjectiveTo investigate the diagnosis and treatment of Crohn disease in neonates.Methods The clinical data of one case of neonatal onset Crohn disease were retrospectively analyzed.Results Male infant had intermittent fever, recurrent oral ulcers, skin impetigo and intermittent diarrhea with increased WBC counts from ifve days after birth. He had been diagnosed as sepsis, bacterial enteritis, Behcet's disease, immunodeifciency disease, nutritional anemia, milk intolerance, and inlfammatory bowel disease. Finally he was diagnosed as Crohn disease by rectal mucosa pathology and postoperative bowel pa-thology. He died of intestinal perforation on 8 months.ConclusionsThe infants who have recurrent oral ulcers, skin impetigo, perianal ulcers and fever from neonatal should undergo colonoscopy for the diagnosis.

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.