Analysis of GCDH gene mutations in 3 patients from Fujian area with glutaric academia type I / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore clinical features and mutation types in patients from Fujian area with glutaric academia type I(GA I).</p><p><b>METHODS</b>Serum 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.</p><p><b>RESULTS</b>Mutations 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.</p><p><b>CONCLUSION</b>c.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.</p>

Association of biliverdin reductase A gene polymorphisms with neonatal hyperbilirubinemia from Fujian area / 中华实用儿科临床杂志

Objective To assess the association of single nucleotide polymorphisms (SNPs)of biliverdin reductase A (BLVRA) with neonatal hyperbilirubinemia from Fujian area.Methods A total of 286 patients with neonatal hyperbilirubinemia and 250 healthy controls were enrolled.Genotypes of 5 SNPs within BLVRA gene including rs699512,rs1802846,rs7738,rs1637530 and rs2302032 were determined with matrix-assisted laser desorption ionization/time of flight mass spectrometer.The frequencies of genotype,allele,haplotype and their differentiations were analyzed.Results All 5 SNPs had conformed to Hardy-Weinberg equilibrium (all P ＞ 0.05).rs699512 and rs1637530 showed a significant difference between the 2 groups in both allelic and genotypic frequencies (all P ＜ 0.05),but no significant differences were found in the other SNPs(all P ＞ O.05).In recessive model,the frequency of rs699512 GG genotype of patients was significantly lower than that of the healthy control group(OR =0.494,95％ CI:0.276-0.886,P =0.018),while in dominant model,the frequencies of rs699512 GG + AG and rs1637530 TT + CT genotype of patients were significantly lower than that of the healthy control group(OR =0.678,0.627;95％ CI:0.482-0.954,0.444-0.885;P =0.026,0.008).Based on linkage disequilibrium analysis and haplotype construction,rs1637530,rs2302032,rs699512 and rs1802846 locus in the same area.Based on haplotype CGAT,TGGT,CTAT and CGGT had significant differences between the 2 groups (all P ＜ 0.05),and could reduce the risk of high blood bilirubin (OR =0.588,0.687,0.501;95％ CI:0.434-0.797,0.496-0.952,0.250-1.004).Conclusions rs699512 and rs1637530 may be associated with neonatal hyperbilirubinemia,A allele in rs699512 and C allele in rs1637530 may be associated with significantly increased risk of neonatal hyperbilirubinemia.

The correlation of the ultrasound in cardiac function index and serum Hcy in chronic heart failure patients / 实用医学杂志

Objective To study the correlation between serum homocysteine (Hcy) levels and chronic heart failure (CHF) with ultrasound cardiac function patients.Methods The subjects were 88 cases of CHF (CHF group) in our hospital between April 2014 to June 2015 between patients,selected 65 cases of healthy people as a control group over the same period in our hospital,using color Doppler ultrasound measurement of two groups patients of the left ventricular ejection fraction of patients groups (LVEF) and left ventricular end-diastolic diameter (LVEDd),and compared serum Hcy and NT-proBNP levels,LVEF and LVEDd in different NYHA classification patients,analysis of serum Hcy and NT-proBNP levels and LVEF,LVEDd between correlation of serum Hcy levels on cardiovascular incident.Results CHF group of the Hcy,NT-proBNP levels and LVEDd were significantly higher than control group (P ＜ 0.01),LVEF was significantly lower than the control group (t =31.78,P =0.00);different NYHA functional class (Ⅱ ～ Ⅳ level) of Hcy,NT-proBNP,LVEDd and LVEF compared were statistically difference (P ＜ 0.01);Pearson correlation analysis showed,CHF patients with LVEF serum Hcy levels were negatively correlated (r2 =0.974,P ＜ 0.01),with LVEDd was positively correlated (r2 =0.896,P ＜ 0.05),and higher serum Hcy levels,the higher the rate of cardiovascular happened in patients with CHF.Conclusion The serum Hcy and NT-proBNP levels in patients with CHF were significantly higher than healthy,and with the deterioration of heart function and increased while the LVEF was negatively correlated positively with LVEDd,cardiovascular events in high Hcy levels may also increase the incidence risk,so Hcy levels is expected as a new diagnostic marker CHF conditions change.

DUOX2 mutations are frequently associated with congenital hypothyroidism in a Chinese Patients / 中华内分泌代谢杂志

Objective To investigate the prevalence of DUOX2 mutations in Chinese patients with congenital hypothyroidism (CH) and to discuss the inheritance pattern of DUOX2 gene.Methods Blood samples were collected from 91 CH children and their genomic DNA was extracted from peripheral blood leukocytes.All exons and exon-intron boundaries of DUOX2 were analyzed by target next-generation sequencing and family trios was established to study the inheritance pattern of DUOX2 gene.Results Fifty-four out of 91 children with CH carried DUOX2 mutation, with a prevalence of 59.34%.Of the 54 CH children, 36 carried DUOX2 biallelic mutations.In all 12 family trios with probands carrying biallelic DUOX2 mutations, the parents carried heterozygous DUOX2 mutations while still showing normal thyroid function, suggesting that CH caused by DUOX2 mutations is inherited in an autosomal recessive manner.Conclusion DUOX2 gene is one of the most frequently mutated genes in Chinese CH patients and its inheritance pattern is an autosomal recessive one.

The clinical efficacy in decreasing hemorrhagic complication by B-ultrasound combined with color Doppler ultrasound guidance in percutaneous nephrolithotomy / 中华泌尿外科杂志

Objective To evaluate the clinical significance of using B-ultrasound combined with color Doppler ultrasonography guidance in percutaneous nephrolithotomy ( PCNL) to decease the incidence of hemorrhagic complication.Methods A total of 323 patients with renal or urethral stones who had undergone PCNL were retrospectively categorized into 2 groups.Group 1 (147 patients) underwent PCNL with single B-ultrasound guidance while group 2 (176 patients) underwent PCNL with combined B-ultrasound and color Doppler ultrasound guidance. The clinical characteristics and complications, especially hemorrhagic complications in the two groups were recorded and compared.Results There were no statistical significances in age [ ( 53.2 ±12.9 ) years vs.( 54.7 ±9.1 ) years ] , hight [ ( 165.1 ±8.5 ) cm vs.( 164.6 ± 6.9) cm], weight[ (66.1 ±19.2) kg vs.(64.9 ±16.3) kg], stone burden [(680.5 ±56.4) mm2 vs. (654.0 ±76.9) mm2], operative time[(117.6 ±55.1) min vs.(121.4 ±54.3) min], stone-free rate (90.7%vs.91.3%), or postoperative hospital stay [(4.9 ±2.2)d vs.( 4.7 ±1.7 )d] between the two groups.In the B-ultrasound combined color Doppler ultrasound guidance group, the rate of blood transfusion (1.1%vs.3.4%) and super-selective embolization (0 vs.3.4%) was significantly lower than that of the single B-ultrasound guidance group.Besides, the incidents of renal arteriovenous fistula (0 vs.2.0%), pseudoaneurysm (0 vs.2.0%), and perirenal hematoma (0 vs.1.4%) were significantly lower in the B-ultrasound combined color Doppler ultrasound guidance group than that of the single B-ultrasound guidance group.Conclusion Using B-ultrasound combined color Doppler ultrasound guidance during PCNL resulted in the real-time detection and avoidance of the renal blood vessels during puncture and decreased the incidence of hemorrhagic complications.

Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the frequencies of CYP21A2 gene mutations among patients from Fujian area with classical 21-hydroxylase deficiency.</p><p><b>METHODS</b>For 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.</p><p><b>RESULTS</b>Eleven 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).</p><p><b>CONCLUSION</b>There 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.</p>

Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population.</p><p><b>METHODS</b>Peripheral 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.</p><p><b>RESULTS</b>Twenty 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.</p><p><b>CONCLUSION</b>There is a specific spectrum of PAH gene mutation in Fujian region. R241C, R408Q and Ex6-96A>G are the most common mutations.</p>

Risk factors of 125 cases of neonatal congenital hypothyroidism during perinatal period / 中华流行病学杂志

<p><b>OBJECTIVE</b>To understand the relationship between perinatal factors and congenital hypothyroidism (CH) and provide scientific evidence for the prevention of CH.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>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.</p>

Risk factors of 125 cases of neonatal congenital hypothyroidism during perinatal period / 中华流行病学杂志

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.

Risk factors of 125 cases of neonatal congenital hypothyroidism during perinatal period / 中华流行病学杂志

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.

Association of thyroperoxidase gene polymorphisms with dyshormonogenesis in congenital hypothyroidism / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association of thyroperoxidase (TPO) gene polymorphisms with dyshormonogenesis in congenital hypothyroidism (CH).</p><p><b>METHODS</b>The 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).</p><p><b>RESULTS</b>Six 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.</p><p><b>CONCLUSION</b>rs4927611 and rs732609 may be associated with dyshormonogenetic CH. rs4927611 TT and rs732609 CC are genotypes associated with potential risk for the disease.</p>

Simultaneous bilateral percutaneous nephrolithotomy / 中华泌尿外科杂志

Objective To discuss the safety and efficacy of simultaneous bilateral percutaneous nephrolithotomy (SBPCNL) for bilateral renal or upper ureteral calculi. Methods Forty-eight cases (26 males, 22 females, 24-57 years )who underwent SBPCNL with pneumatic and ultrasonic power for bilateral renal or upper ureteral calculi were retrospectively reviewed. Clinical data including opera-tion time, blood loss, transfusion rates, length of hospital stay, stone free rate and complications were analyzed. Results The percutaneous renal access was successfully established under ultrasonic guid-ance in all patients. The average operation time was(105±18) rain(range 80-190 min). The average drop in hemoglobin was 21 g/L (range 5-54 g/L), with 5 patients requiring blood transfusion. In 43 patients, a single stage was performed on both sides, while 5 required the second stage PCNL on one side. A single tract was adopted on both sides in 44 patients, while 4 cases of the patients required two tracts on one side. No one required two tracts on both sides or more than one stage on both sides. The stone-clearance rate was 87.5 %. The average hospital stay was 6.5 d. There was no severe complica-tion occurred. Conclusion SBPCNL might be safe and effective for bilateral renal or upper ureteral calculi for selected patients.

Bioartificial kidney alters cytokine response and survival time in acute uremic pigs with multiple organ dysfunction syndrome / 中华急诊医学杂志

Objective To study the effects of bioartificial kidney(BAK)treatment on cytokines interleukin-10(IL-10)and tumor necrosis factor-α(TNF-α),biochemistry indexes,and survival time in acute uremic pigs with multiple organ dysfunction syndrome(MODS).Method Pigs with MODS and acute renal failure(ARF)were treated with BAK(group A,n = 6)or sham BAK containing no cells(group B,n = 6)or received no treatment(group C,n = 5).Data on blood pressure,hepatic and renal functions,serum IL-10 and TNF-α levels,arterial blood gas and survival time of all the pigs were recorded.Comparisons of values were done using Student's t-test or repeated-measures analysis of variance(ANOVA).ResultsMean arterial pressure(MAP,mmHg)responsed more rapidly and reached higher values in group A (91.82±5.73)compared with group B and C at 24 hours(P＜0.01).The peak level of serum EL-10(pg/mL)ingroupA(249.57±43.51)was significantly higher than that in group B and C(132.06± 17.53,104.25 ±13.42,P＜0.01).Serum TNF-a level(pg/mL)in group A dropped gradually to(402.91 ± 32.47)at 24 hours,and had significant discrepancy compared with that before the treatment(537.16 ± 38.45)and that in groupB(P＜0.05).The average survival time(hours)in group A(113.01 ± 14.32)was significantly longer than that in the group B and C(P＜0.01),which was prolonged by 35.93%and 63.90%,respectively.ConclusionsTreatment with BAK can prolong the survival time of uremic pigs with MODS,possibly through ameliorating the MAP,increasing the level of IL-10 and reducing the concentration of TNF-α.

Endovascular Stent-Assisted Angioplasty of Symptomatic Intracranial Stenosis / 国际脑血管病杂志

The application of intracranial stent-assisted angioplasty has been in controversy.In recent years, the development novel stents, preoperative evaluation, and accumulation of periprocedural management experiences have significantly improved the success rate of this operation.The incidence of complications has decreased significantly. However, the efficacy and safety of intracranial stent-assisted angioplasty are still lack of support from prospective multicenter studies.This article reviews the recent advances in this field.

Analysis of Death Causes in Urban Areas of Changsha During Ten Years / 中国医师杂志

Objective To investigate the effects of comprehensive intervention on population death rate. Methods To analyze population crude death rate, cause-specific death rate, and compare the death rate in intervention group with that of control.Results The average crude death rate in communities of Changsha was 617 79 per 100 000, with 557 27 per 100 000 of standarized death rate. Cerebrovascular disease, cardiocascular disease, tumour, disease of respiratory system injury and intoxication were from the first rank to the fifth in order the death causes. The death rate in intervention group was lower than that of control group significantly, and the death rate of cerebrovascular disease and cardiocascular disease in intervention group were lower than that of control significantly.Conclusions Cerebrovascular disease and cardiocascular disease are the major causes of death. Intervention on risks factors of cardio- and cerebrovascular diseases can lower the death rate of cardio- and cerebrovascular diseases and the population death rate.

Observation on therapeutic effects of carotid angioplasty and stenting with cerebral protection fitler for elder and high-risk with symptomatic carotid stenosis / 临床神经病学杂志

Objective To investigate the effectivety and safety of carotid angioplasty and stenting (CAS) with cerebral protection fitler for elder and high risk patients with symptomatic carotid stenosis.Methods 25 patients with symptomatic carotid stenosis over 60 years old at high risk were treated with CAS. Results The procedures were technically successful in all patients. All the degrees of stenosis after CAS were less than 20%. Clinical symptoms disappeared. Heart rate and blood pressure were decreased differently in 24 cases.None of them experienced serious clinical complications. Conclusion CAS with cerebral protection fitler are safe and effective in treatment of elder and high risk of patients with symptomatic carotid stenosis.