Objective: To explore the correlation between blood pressure and urinary phthalandione, MMP, MEP, MnBP, MiBP, PAEs. Methods: Three schools were selected from Shenzhen, China for the present study. A total of 765 firstgrade students of Han ethnicity were recruited voluntarily from the selected schools during September 2016 to June 2017. They were divided into normal blood pressure (BP) group (lower than P90 group) and high BP group (BP≥P90). Linear and Logistic regression models were used to analyze the relationships between blood pressure and urine phthalate metabolite levels. Results: Urinary MMP and MnBP in students of high BP group were significantly higher than that of students in normal BP group(t=13.12, 3.97, P<0.05). Linear regression models showed that Z score increased when MMP and MnBP levels increased(P<0.05). Logistic regression model suggested that the risk of high BP increased with the increment of MMP level adjusting creatinine, sex, age and BMI(OR=1.47, P<0.05). There was no statistical significance in the differences after adjusting many factors including family income and education level of parents(P>0.05). Conclusion Urinary phthalate metabolite levels are positively associated with blood pressure in first-grade children.

OBJECTIVETo explore clinical features and mutation types in patients from Fujian area with glutaric academia type I(GA I).

METHODSSerum acylcarnitine and urine organic acid of 3 patients were determined with tandem mass spectrometry and gas chromatographic mass spectrometry. The patients also underwent magnetic resonance imaging analysis for the cranial region. Genomic DNA was extracted from peripheral blood samples, and the 12 exons and flanking regions of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing. One hundred healthy newborns were used as controls.

RESULTSMutations of the GCDH gene were identified in all of the 3 patients. Two patients have carried compound heterozygous mutations including c.1244-2A>C and c.1147C>T(p.R383C), c.406G>T(p.G136C) and c.1169G>A(p.G390E), respectively. One has carried homozygous c.1244-2A>C mutation. The same mutations were not detected among the 100 healthy newborns. Only one patient received early intervention and did not develop the disease. The other two had irreversible damagesto their intelligence.

CONCLUSIONc.1169G>A(p.G390E) is likely pathogenic mutations for GA I patients from Fujianarea. Early screening of neonatal metabolic diseases is crucial for such patients.

OBJECTIVETo assess the frequencies of CYP21A2 gene mutations among patients from Fujian area with classical 21-hydroxylase deficiency.

METHODSFor 19 probands from different families affected with classical steroid 21-hydroxylase deficiency and 74 family members, mutations of the CYP21A2 gene were analyzed with combined nested polymerase chain reaction, Sanger sequencing and multiplex ligation-dependent probe amplification. Time resolved fluorescence immunoassay was performed to determine the level of 17-hydroxyprogesterone (17-OHP) in all family members. Clinical data and laboratory results of the probands and their family members were analyzed.

RESULTSEleven mutations were identified among the 38 alleles from the 19 probands. 92.1% (35/38) of the mutant CYP21A2 alleles were due to recombination between CYP21A2 and CYP21A1P. Gene conversion and deletions were identified in 84.2% (32/38) and 7.9% (3/38) of the alleles, respectively. IVS2-13A/C>G and chimeras were the most common mutations, which respectively accounted for 34.2% (13/38) and 18.4% (7/38) of all mutant alleles. Among these, IVS2+1G>A and Q318X+356W were first reported in China. 74.3% (55/74) of the family members were carriers of heterozygous mutations. However, no significant difference was found in the 17-OHP levels between carriers and non-carriers (P>0.05).

CONCLUSIONThere seems to be a specific spectrum of CYP21A2 gene mutations in Fujian area, where IVS2-13A/C>G and chimeras are the most common mutations.

Adrenal Hyperplasia, Congenital ; genetics ; Alleles ; Female ; Humans ; Male ; Mutation ; genetics ; Steroid 21-Hydroxylase ; genetics

OBJECTIVETo understand the relationship between perinatal factors and congenital hypothyroidism (CH) and provide scientific evidence for the prevention of CH.

METHODSA case-control study was conducted among 125 neonates with CH (case group) and 375 neonates without CH (control group) in Fujian Neonatal Screening Center from January in 2012 to December in 2013. Univariate and multivariate logistic regression analysis were performed to identify the risk factors to CH during perinatal period.

RESULTSUnivariate logistic regression analysis indicated that compared with control group, gestational hypertension, gestational diabetes mellitus, gestational thyroid disease and older age of mother were the risk factors to CH, the difference was statistically significant (P < 0.05) and the risk of CH was higher in female babies, preterm babies, post-term babies low birth weight babies, macrosomia, twins, babies with birth defects and infection in cases group than those in control group, the difference was statistically significant (P < 0.05). Multivariate logistic analysis showed that older age of mother (OR = 2.518, 95% CI: 1.186-5.347), gestational diabetes mellitus (OR = 1.904, 95% CI: 1.190-3.045), gestational hypothyroidism or hyperthyroidism (OR = 12.883 and 30.797, 95% CI: 2.055-80.751 and 3.309-286.594), preterm birth (OR = 4.238, 95% CI: 1.269-14.155), and post-term birth (OR = 12.799, 95% CI: 1.257-130.327), low birth weight (OR = 3.505, 95% CI: 1.059-11.601), macrosomia (OR = 3.733, 95% CI: 1.415-9.851), twin or multiparous delivery (OR = 5.493, 95% CI: 1.701-17.735), birth defects (OR = 3.665, 95% CI: 1.604-8.371) and fetal distress (OR = 3.130, 95% CI: 1.317-7.440) were the high risk factors to CH (P < 0.05).

CONCLUSIONCH was correlated with mother's age, gestational diabetes, gestational thyroid disease as well as neonate's birth weight and gestational age, foetus number, fetal distress and other complicated birth defects at certain degree. More attention should be paid to perinatal care to reduce risk factors and the incidence of CH.

Birth Weight ; Case-Control Studies ; Congenital Hypothyroidism ; epidemiology ; Diabetes, Gestational ; epidemiology ; Female ; Gestational Age ; Humans ; Hypertension, Pregnancy-Induced ; epidemiology ; Incidence ; Infant, Newborn ; Infant, Premature ; Maternal Age ; Neonatal Screening ; Pregnancy ; Pregnancy Complications ; epidemiology ; Premature Birth ; Risk Factors ; Twins

OBJECTIVETo assess the association of thyroperoxidase (TPO) gene polymorphisms with dyshormonogenesis in congenital hypothyroidism (CH).

METHODSThe 17 exons and flanking introns of the TPO gene from 30 randomly selected samples were sequenced for the selection of single nucleotide polymorphisms (SNPs). In 136 patients with dyshormonogenetic CH and 141 healthy controls from the same region, the selected SNPs were genotyped by polymerase chain reaction (PCR) and direct sequencing or PCR-restriction fragment length polymorphism (RFLP).

RESULTSSix SNPs (rs9678281, rs376413622, rs1126797, rs4927611, rs732609 and rs1126799) were selected to determine the genotype for each sample. Among these, rs4927611 and rs732609 showed a significant difference between the two groups in both allelic and genotypic frequencies. With a recessive model of inheritance, rs732609 CC (OR=0.484, 95%CI: 0.253-0.927, P=0.04) and rs4927611 TT (OR=0.32, 95%CI: 0.112-0.915, P=0.047) were greater in the patients.

CONCLUSIONrs4927611 and rs732609 may be associated with dyshormonogenetic CH. rs4927611 TT and rs732609 CC are genotypes associated with potential risk for the disease.

Alleles ; Autoantigens ; genetics ; Base Sequence ; Child, Preschool ; Congenital Hypothyroidism ; blood ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Infant ; Infant, Newborn ; Iodide Peroxidase ; genetics ; Iron-Binding Proteins ; genetics ; Linkage Disequilibrium ; Male ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Risk Factors ; Thyrotropin ; blood ; Thyroxine ; blood

OBJECTIVETo study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population.

METHODSPeripheral blood samples of 36 patients and their parents with classical type phenylketouria (PKU) were collected. Genomic DNA was extracted. Following PCR amplification, DNA sequencing was carried out to identify the origins of mutations.

RESULTSTwenty types mutations were identified in 63 of the 72 alleles. The most common mutations were R241C, R408Q and Ex6-96A>G, which respectively accounted for 15.9%, 12.7% and 11.1% of all mutant alleles. The c.189_190dupTGAC mutation was first reported. R241C was associated with 28% of mild hyperphenylalaninemia and R408Q is associated with 25% of classical PKU.

CONCLUSIONThere is a specific spectrum of PAH gene mutation in Fujian region. R241C, R408Q and Ex6-96A>G are the most common mutations.

Adolescent ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; Female ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; enzymology ; genetics

Objective To summarize the clinical characteristics of adrenal tumors combined with renal carcinoma and to extend the clinical understanding of the situation.Methods To analyze the data of 1 100 patients with adrenal tumors hospitalized in Peking University First Hospital from Jan.1994 to Mar.2012 retrospectively,in the series there were 42 combined with renal carcinoma.Results There were 27 males,15 females,aged 29 to 83 years,mean 60.5 years old.In 42 renal carcinomas,there were 29 (69.0％) clear cell carcinomas,5 (11.9 ％) cystic renal carcinomas,2 (4.8％)clear cell with granulosa cell hybrid carcinomas,1 renal lymphoma,1 (2.4％) spindle cell tumor,1 acidophilic cell adenoma,and 1 undifferentiated type of renal cell carcinoma and pathologically not clear in 2 cases (4.8％).Clinical manifestations were not specific.In 42 adrenal tumors,20 situated in the left,and 17 right,and 5 were bilateral.35 cases were considered primary adrenal tumors,in which 3 were diagnosed primary hyperaldosteronism,32 were non-functional tumors.Other 7 were non-functional matastatic carcinomas.25 patients underwent resection of adrenal tumors,and pathology revealed 22 (88.0％) were primary,in which 12 (54.6％) were cortical adenomas,7 (31.9％) hyperplasia,1 (4.5 ％) pheochromocytoma,1 (4.5 ％) ganglioneuroma,1 (4.5 ％)adenoma with hyperplasia;2 (8.0％)metastatic tumors,and 1 (4.0％) non-Hodgkin' s lymphoma.The mean diameter of primary adrenal tumors was 1.9 cm,while that of metastatic carcinoma was 3.84 cm.25 underwent abdominal ultrasonography,40 underwent computed tomography (CT) scan,6 underwent magnetic resonance imaging (MRI) scan,positive rate was 72.0％,97.5％,and 100.0％ respectively.25 patients who underwent surgery were followed up,17 survived for 8 months-6 years,4 died,in which 1 metastatic carcinoma died of intraoperative bleeding,1 died of adrenal lymphoma,2 died because of other disease,4 were lost to follow-up.Conclusions The most common type of renal carcinoma combined with adrenal tumors was clear cell carcinoma,while majority of the adrenal tumors were primary with non-specific clinical manifestations and function.The adrenal tumors might be located in the same or the opposite side of renal carcinoma,also might be bilateral which were more common in metastatic carcinomas and always bigger than primary ones.CT/MRI scans were important in judging the nature of the tumors and pathology was the gold standard.The non-functioning primary adrenal tumors could be safely followed up,and the isolated metastatic carcinoma should be resected.Prognosis depends mainly on that of renal carcinoma.

Objective To elaborate the clinical characteristics of adrenal non-Hodgkin's lymphoma and to expand the clinical thinking of adrenal tumors.Methods Subjects with adrenal tumors and nonHodgkin's lymphomas between January.1994 and December.2012 in Peking University First Hospital retrospectively were included and these with adrenal lymphoma patients were analyzed in the present study.Results Among 1100 adrenal tumors and 1 002 non-hodgkin's lymphomas,21 patients (aged 35 to 80 years,mean 56 years) were diagnosed as having adrenal non-Hodgkin's lymphoma with 14 males and 7 females.Among the 21 patients,15 were with pain on the waist and the back,3 with fever,1 had weight loss.Two patients were diagnosed by regular health examination.Only 2 subjects accompanied by superficial lymph node enlargement,while 10 by abdominal cavity lymph node enlargement.Eleven subjects were with extranodal involvement.Bilateral adrenal were involved in 8 patients with 9 on the left and 4 the right.The average diameter of the masses was 7.2 cm.There were no specific features in conventional imaging such as CT and MRI scan.All of the 21 cases were found normal adrenal function by endocrinological examinations.Pathology reviewed that 18 of 21 were diffuse large B cell non-Hodgkin's lymphoma,2 were T cell lymphoma,1 were anaplastic large cell lymphoma.Only 7 of 21 cases were diagnosed with adrenal lymphoma pre-operation.Seventeen patients were followed up by telephone in September 2014,in which 14 died and the average survival time was 5.5 months,2 were tumor-free survival for 4 and 10 months respectively,1 were currently undergoing chemotherapy.Conclusions Adrenal lymphoma is rare with less superficial lymph node,more bilateral adrenal involved with high malignant degree.It progressed quickly with poor prognosis.Clinical and imaging features were not specific,so misdiagnosis was very common.Pathology is the diagnostic gold standard.The most common type was diffuse large B cell type.

Objective To understand the relationship between perinatal factors and congenital hypothyroidism(CH)and provide scientific evidence for the prevention of CH. Methods A case-control study was conducted among 125 neonates with CH (case group) and 375 neonates without CH(control group)in Fujian Neonatal Screening Center from January in 2012 to December in 2013. Univariate and multivariate logistic regression analysis were performed to identify the risk factors to CH during perinatal period. Results Univariate logistic regression analysis indicated that compared with control group,gestational hypertension,gestational diabetes mellitus,gestational thyroid disease and older age of mother were the risk factors to CH,the difference was statistically significant (P<0.05) and the risk of CH was higher in female babies,preterm babies,post-term babies low birth weight babies,macrosomia,twins,babies with birth defects and infection in cases group than those in control group,the difference was statistically significant (P<0.05). Multivariate logistic analysis showed that older age of mother(OR=2.518,95%CI:1.186-5.347), gestational diabetes mellitus(OR=1.904,95%CI:1.190-3.045),gestational hypothyroidism or hyperthyroidism(OR=12.883 and 30.797,95%CI:2.055-80.751 and 3.309-286.594),preterm birth (OR=4.238,95%CI:1.269-14.155),and post-term birth(OR=12.799,95%CI:1.257-130.327),low birth weight(OR=3.505,95%CI:1.059-11.601),macrosomia(OR=3.733,95%CI:1.415-9.851), twin or multiparous delivery(OR=5.493,95%CI:1.701-17.735),birth defects(OR=3.665,95%CI:1.604-8.371)and fetal distress(OR=3.130,95%CI:1.317-7.440)were the high risk factors to CH (P<0.05). Conclusion CH was correlated with mother’s age,gestational diabetes,gestational thyroid disease as well as neonate’s birth weight and gestational age,foetus number,fetal distress and other complicated birth defects at certain degree. More attention should be paid to perinatal care to reduce risk factors and the incidence of CH.

Objective To investigate the clinical diagnosis and treatment of blunt abdominal trauma(BAT).Methods The clinical data of 64 patients with BAT were retrospectively analyzed.Results 49 patients treated by surgery were cured and 12 cases treated by non-surgery were cured.3 patients died,two of them died for multi-organ dysfunction and one of them died for brain trauma.Conclusion Because the BAT is severe and complicate,so it shoald be diagnosed and treated as soon so possible.