A case of poikiloderma with neutropenia and mutation analysis of the USB1 gene / 中华皮肤科杂志

A 13-year-old male patient presented with skin abnormalities for more than 10 years and slow growth in body height for more than 5 years. Since the age of 6 months, erythema and scales had occurred on the extremities, and gradually spread to the trunk and face; brown pigmentation and punctate depigmentation appeared after subsidance of the erythema and scales, accompanied by dental caries, thickened palms and soles, nail thickening and peeling. Since the age of 6 years, the patient had presented with slow growth in body height, gonadal dysgenesis, sparse eyebrows and eyelashes, flat cheekbones and lameness in walking. In the past 10 years, neutrophil count had been found to be continuously lower than the normal reference value. Blood routine examination showed a neutrophil count of 1.1 × 10 9/L and a neutrophil proportion of 0.345; serum level of testosterone in the patient (< 0.087 nmol/L) was lower than normal levels. DNA was extracted from the peripheral blood of the patient and his parents, and gene mutation analysis was carried out by using whole-exome sequencing technology. Genetic testing showed compound heterozygous mutations in the USB1 gene of the patient, including the c.450-2A>G mutation inherited from his mother and the c.335de1G mutation inherited from his father, and the c.335de1G mutation had not been reported in China and other countries.

Simultaneous Determination of Two Ingredients in Indometacin and Furazolidone Suppositories by HPLC / 中国药师

Objective: To establish an HPLC method for the simultaneous determination of two ingredients in indometacin and furazolidone suppositories.Methods: The analysis was performed on an XTerra(R) RP18 column (250 mm×4.6 mm, 5 μm) with gradient elution of methanol and 0.01 mol·L-1 potassium dihydrogen phosphate-triethylamine (100∶0.02) at the flow rate of 1.0 ml·min-1.The column temperature was 30 ℃ and the detection wavelength was 263 nm.The injection volume was 10 μl.Results: The peaks of furazolidone and indometacin were successfully separated.The linear range of calibration curves was 5.12-81.87 μg·ml-1 (r =1.0000) and 3.78-60.45 μg·ml-1 (r =1.0000), respectively.The average recovey was 99.6% (RSD =1.5%, n =6) and 100.3% (RSD =1.6%, n =6), respectively.The limit of quantification (LOQ) was 0.02 μg·ml-1 and 0.05 μg·ml-1, respectively.Conclusion: The established method is validated to be suitable for the quality control of indometacin and furazolidone suppositories.

Association between MPO gene polymorphism and clinical characteristics in children with Kawasaki disease / 临床儿科杂志

Objective To investigate the association between MPO gene single nucleotide polymorphisms (SNP) loci (rs2333227,-643G/A) and clinical characteristics in Kawasaki disease (KD) in Han population in central China. Methods A case-control study was performed. Two hundred and thirty-seven children with KD and 249 normal children were recruited. The polymorphism distribution of SNP was detected using PCR-RFLP. The clinical data of children with KD were collected. Results The frequency of SNP loci (rs2333227) genotypes (GG, GA, AA) was signiifcantly different between children with KD and normal children (P=0.039), the allele frequency was also signiifcantly different between two groups (P=0.012), and the G allele was the risk factor. Compared with other genotypes, KD children with GG genotype had higher frequency in hand-foot edema (P=0.029). The SNP polymorphism was also associated with peritoneal effusion (P=0.028), however this SNP polymorphism was not associated with conjunctival hyperemia, oral mucosa lesions, and coronary artery lesion (P>0.05), also was not associated to imaging characteristics of hepatomegaly, splenomegaly, and lobular pneumonia (P>0.05). Conclusion The SNP loci (rs2333227) in MPO gene was associated with KD susceptibility, the G allele was a risk factor, and the SNP polymorphisms is associated with some clinical characteristic.

Clinical features of Marfan syndrome and analysis ofFBN1 gene mutation / 临床儿科杂志

Objective To explore the clinical features of Marfan syndrome (MFS) and its virulence gene mutation of FBN1.Methods Clinical data of 2 children with MFS were retrospectively analyzed, and pertinent literatures were reviewed. Results Case one was a 1 year and 10 months old boy with a special face, bilateral lower eyelid edema, high palatal arch, slender fingers and toes. A little of moist rales in lung could be heard, and systolic accentuated in apex could be heard too. Echocardiography showed that aortic coronary sinus dilated, aorta and pulmonary artery broadened, left ventricular diverticulum, a small amount of mitral regurgitation,and moderate tricuspid regurgitation. Electrocardiogram showed incomplete right bundle branch block. Gene detection found a c.3037G>A mutation (p.Gly1013Arg) inFBN1. Case two was a 12 years old slender boy with spider-like ifnger/toe, high myopia, 2/6 systolic and diastolic murmur in the ifrst and two auscultation area in aortic valves. Echocardiography showed the aortic sinus signiifcantly broadened, aortic incompetence, mild pulmonary regurgitation and left ventricular enlargement. Gene detection found heterozygous mutation of c.1876G>A (p.Gly626Arg) in FBN1, which has not been reported.Conclusion The diagnosis of MFS can be conifrmed byFBN1 gene detection. A new mutation of c.1876G>A (p.Gly626Arg) was detected.

Association between polymorphism ofGRIN3A gene and clinical characteristic in children with Kawasaki disease / 临床儿科杂志

ObjectiveTo investigate the association between nucleotide polymorphisms ofGRIN3A gene and clinical characteristic of Kawasaki disease (KD) in children in Han population in central Chinese.MethodsA case-control study was performed. A total of 191 children with KD were recruited and 217 healthy children were served as controls. The distribution of SNP was determined by PCR-RFLP. Arterial lesions were detected by echocardiographic.ResultsThe distribution of three genotypes (CC, CG, GG) in SNP (rs7849782) was statistically difference between KD and control groups (P=0.034), and C allele was associated with KD susceptibility (OR=1.46, 95%CI: 1.10-1.92,P=0.007). In children with KD, the polymorphism of SNP loci was signiifcantly associated with oral mucosa lesions and coronary artery lesion (P0.05). The polymorphism of SNP loci was also associated with the levels of erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) (P<0.05).ConclusionThe ploymorphism of SNP loci ofGRIN3A gene (rs7849782) was associated with the susceptibility of KD. The C allele was the risk factors. The poly-morphism of SNP was associated with oral mucosa lesions and coronary artery lesion, and may affect the levels of ESR and CRP.

Application of nested PCR in P1-RFLP for genotyping Mycoplasma pneumoniae strains / 中华微生物学和免疫学杂志

Objective To evaluate the efficiency of using nested PCR in restriction fragment length polymorphism analysis (P1-RFLP) for genotyping Mycoplasma pneumonia (M.pneumonia) in clinical specimens.Methods Based on the gene sequence of RepMp4 and RepMp2/3 in P1 gene of reference strains M129 (type 1) and FH (type 2),two sets of inner primers were designed with a HaeⅢ restriction enzyme site (GGCC).The nested PCR was set up to detect the target DNA in clinical specimens.The amplification products were mixed and digested with Hae Ⅲ enzyme.The genotypes were analyzed by comparing with various restriction maps and the results were verified by sequencing analysis.The concentration of DNA extracted from standard and clinical strains were detected by ten-fold dilution to evaluate the sensitivity of nested PCR-P1-RFLP and P1-RFLP.M.pneumonia-positive specimens isolated from Beijing in 2012 were analyzed by the nested PCR-P1-RFLP and the results were compared with those by P1-RFLP analysis.Results The nested PCR-P1-RFLP could effectively genotype M.pneumonia in clinical specimens and the results were consistent with those by sequencing analysis.The sensitivity of new assay was 103 times higher than that of the original P1-RFLP.Of the 115 M.pneumoniae positive clinical specimens,97.4％ (112/115) were type 1 and the rest were type 2.Conclusion The nested PCR-P1-RFLP shows high efficiency for genotyping of M.pneumonia in clinical specimens.It might be useful for the surveillance of M.pneumoniae infection.

Surveillance of Mycoplasma pneumoniae infection among children in Beijing from 2007 to 2012 / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Mycoplasma pneumonia (M. pneumoniae) is one of the key pathogens of community-acquired pneumonia. A global pandemic of M. pneumoniae has occurred since 2010. The aim of this study was to survey the prevalence of M. pneumoniae in children in Beijing from 2007-2012.</p><p><b>METHODS</b>A total of 3 073 clinical specimens were obtained from pediatric patients with respiratory tract infections from January 2007 to December 2012, and examined by nested polymerase chain reaction. PCR products were visualized by 2% agarose gel electrophoresis, positive products sequenced, and compared with reference sequences in GenBank. Macrolide resistance-associated mutations were also detected for some positive samples.</p><p><b>RESULTS</b>Of the 3 073 specimens, 588 (19.13%) were positive for M. pneumoniae, 12.4% of which were accompanied by viral infections. Positive rates for M. pneumoniae were highest in 2007 and 2012, showing a significant difference when compared with other years. Infections tended to occur in autumn and winter and positive rates were significantly higher for children aged 3-16. The rate of macrolide resistance-associated mutations was 90.7%, and the predominant mutation was an A→G transition (89.92%) at position 2063 in domain V of the 23S rRNA gene.</p><p><b>CONCLUSIONS</b>M. pneumoniae outbreaks occurred in 2007 and 2012 in pediatric patients in Beijing, which is consistent with the global prevalence of M. pneumoniae. M. pneumoniae can cause multi-system infections in children, and may be accompanied with viral infections. We determined that school-age children are more susceptible to this disease, particularly in autumn and winter. Gene mutations associated with macrolide resistance were very common in M. pneumoniae-positive specimens during this period in Beijing.</p>

Application and evaluation of invasive prenatal diagnostic techniques and analysis of chromosomal karyotype / 中南大学学报(医学版)

OBJECTIVE@#To evaluate the safety, effectiveness and complications of serial invasive prenatal diagnostic techniques, and to investigate the prenatal diagnosis indication as well as to analyze the abnormal chromosomal karyotype.@*METHODS@#We retrospectively studied all patients from March 2005 to May 2012 who received amniocentesis and cordocentesis in the prenatal diagnosis center of Second Xiangya Hospital. The indication of the procedure, successful rate and complications were evaluated, and 25 abnormal chromosome nuclear types were analyzed.@*RESULTS@#A total of 669 patients received invasive prenatal diagnosis from March 2005 to May 2012 in Second Xiangya Hospital: 598 received amniocentesis and 71 cordocentesis carried out. Compared with the cordocentesis group, the amniocentesis group had higher achievement ratio (91.54% vs 100%, P<0.05), lower spontaneous abortion rate (1.41% vs 0.33%, P<0.05), fewer abnormal karyotypes (11.27% vs 2.84%, P<0.05) and lower expenditure (880 yuan vs 800 yuan, P<0.05). Positive screening, advanced maternal age, and ultrasonography abnormality were the top 3 indications of amniocentesis and cordocentesis. We found 25 abnormal karyotypes, including 6 cases of trisomy 21, 4 sex chromosomal abnormalities, 7 autosomal balanced translocations, 1 marker chromosome, and 7 mosaics.@*CONCLUSION@#As a widely used invasive prenatal diagnosis, amniocentesis is safe and effective. The complications of cordocentesis are much higher than those of amniocentesis, which is not a proper routine procedure for prenatal diagnosis of abnormal karyotype. The analysis of karyotype not only can identify fetal chromosome abnormality, but also provide the scientific basis for pregnancy continuation, thus reducing the ratio of birth defect.

Diagnosis of Abdominal Organs Diseases by Contrast-Enhanced Ultrasonography / 昆明医科大学学报

Objective To investigate the efficacy of contrast-enhanced ultrasound (CEUS) in diagnosing liver, gallbladder, spleen and renal diseases. Methods 27 patients with liver diseases, 30 patients with gallbladder diseases, 5 patients with renal diseases, 5 patients with renal trauma and 6 patients with spleen disease were examined by CEUS. Results There were 3 cases of primary hepatocellular carcinomas, 4 cases of metastatic hepatic carcinomas, 4 cases of liver abscess, 10 cases of hepatic hemangiomas and 3 cases of liver repture with active bleeding. The diagnostic coincidence rate of CEUS was 90%. 30 patients with gallbladder polyposis were diagnosed by CEUS, and the diagnostic coincidence rate was 100%. 5 cases with renal diaseses included 1 of renal abscess, 1 of renal column hypertrophy and 3 of renal hemangioma. In 5 cases with renal trauma, there were 3 cases with renal contusion and 2 cases with renal rupture and active bleeding. The coincidence rate was 61%. In 6 cases with spleen diseases, there were 1 case with splenic infraction, 1 case with splenic abscess and 4 cases with splenic rupture and hemorrhage. The coincidence rate was 100%. Conclusion CEUS has great value of clinical application in diagnosis of liver, gallbladder, spleen and renal diseases.

Impact of human resource management in emergency department on anxiety of nurses / 中国实用护理杂志

Objective To explore the influence of human resources management in emergency department on nurse's anxiety.Methods Self-Rating Anxiety Scale(SAS)was used to investigate 300 nurses in the emergency department in nine secondary level hospitals of Longgang District.Division of human resource management in these hospitals were examined and the correlation between them was statistically analyzed.Results In addition to the three hospitals,nurses anxiety status of the other six hospitals score showed different levels of anxiety,the average scores were above 50,but the hospitals,that the ratio of the three anxiety condition score was less than 50,moderate to severe anxiety were still more than 20.0％,and other six hospitals was up to 66.7％.In the human resource management to achieve excellent and qualified hospital,the anxiety rate was significantly lower than the substandard hospitals.At the same time there was close correlation between the situation of human resource management and nurses anxiety situation.Conclusions Emergency nurses generally have high anxiety,and in hospitals with poor human resource management,career anxiety is even more obvious.That is to say the anxiety of nurses is closely related to emergency department management of human resources.

Genotype analysis of Mycoplasma pneumoniae during 2010-2012 in children from Beijing / 中华微生物学和免疫学杂志

Objective To inspect the source of an outbreak with Mycoplasma pneumoniae (Mp).Methods We carried out real-time PCR to analyze specimens collected from pediatric patients in Beijing during January 2010 to May 2012,diagnosed as pneumonia or a respiratory infection according to clinical symptoms.These positive samples were analyzed by the M-P typing system(M:multiple-locus variable-number tandem-repeat analysis,MLVA; P:P1-restriction fragment length polymorphism analysis,P1-RFLP).Results Sixty-nine specimens were tested positive to Mp by the real-time PCR in 446 specimens from pediatric patients.The infection rate was 11.69％,15.56％ and 20.00％ respectively in 2010,2011 and the first half of 2012.According to the M-P system,11 distinct genotypes were identified from 69 positive specimens,M43562P1 and M53562P1 were the two main genotypes that showed an increasing trend from 2010 to 2011,and M33562P1 and M63562P1 showed an increasing trend from 2011 to 2012 in China.Conclusion During this international Mp epidemic,the infection rate of Mp was also increase in Beijing in 2011,and M43562P1 and M53562P1 were the two main genotypes.Among them,M43562 were consistent with pop genotypes in Europe,and M53562 were consistent with pop genotype in Israel.The M-P system would be valuable to monitor the epidemic of Mp in different countries in the world.

Pathogenicity of ureaplasma urealyticum serotype 3 in genital tract of mice / 中华妇产科杂志

Objective To study the pathogenicity of ureaplasma urealytieum serotype 3 (UU3) with different concentration in the genital tract of the mice. Methods A total of 156 Kunming mice were divided into 4 groups randomly, including group A, B, C (48 mice in every experimental group) and control group.(12 mice in control group). UU3 at concentration of 1×107eopy/g (group A), 1×106copy/g (group B),1×105copy/g (group C) were inoculated into 48 mice in every experimental group intravaginal]y, in the mean time, culture medium of UU was given into 12 mice in control group. They were neeropsied at 1, 3,7, 14, 21, 35 days of postinoeulatien randomly, which included 8 mice of every experimental group and 2 mice of control group every time, and to detect UU3 expression from cervical secretions by FQ-PCR andobserving the pathogenicity rate in tissues of cervix, endometrium, fallopian tube by light microscope and calculate the morbidity rate. Results (1) The total positive rates of UU3 were 63% (30/48) in group A,50% (24/48) in group B, 17% (8/48) in group C, which showed a significant difference(P<0.01).And at 1,3,7,14,21,35 days of postinoculation, the positive rates of group A were 8/8,7/8,6/8,5/8,4/8 and 0,group B were 7/8,5/8,5/8,4/8,3/8 and 0,group C were 3/8,2/8,2/8,1/8,0 and 0;all mice in control group were zero. At all time points, there were statistical difference in the positive rate among three experimental groups only at 1 day (P<0.05 ). (2) In the positive mice, their UU3 quantity concentration at 1,3,7,14,21 days were 1.70×107, 8.26×106, 4.04×106, 2.86×106,and 2.41 x105 copy/g in group A; 3.75×106, 2.56×106 , 1.37×106, 6.72×105, and 1.12 x 105 copy/g in group B, and 1.45×105,1.07×105, 5.43×104, 4.68×103, and 0 copy/g in group C. There were statistical difference among experimental groups at all time points except 21 days (P<0.05). Comparing the concentration among all time points of every group, both group A and B showed a significant difference(P<0.05) ,group C didn't reach it( P>0.05). (3) The total pathogenicity rates of three groups were significant different at 7-35 days, which were 56% (18/32) in group A, 44% (14/32) in group B, 6% (2/32) in group C (P<0.01 ). And at 7,14,21,35 days of postineculation, the pathogenicity rates in group A were 5/8,5/8,4/8 and 4/8, group B were 4/8,4/8,3/8 and 3/8, group C were 1/8,0,1/8 and 0; all mice in control group were zero, which demonstrated significant difference only at 14 days (P<0.05), no other statistical difference were observed (P>0.05) . Conclusions The pathogenicity of UU3 varies with different concentration in genital tract of mice. When UU3 concentration is more than 1×106 copy/g, the susceptibility to infection was intensified significantly.

Expression of CDIIa, CDIIb and CD62L genes in Mesangial Proliferative Glomerulonephritis / 中国医师杂志

Objective The person's Mesangial Proliferative Glomemlonephritis (MsPGN) were divided into 3 types based on clini- cal manifestations: nephroticsyndrome, hematuria and proteinuria. To investigate the expression of CD11a, CD11b, CD62L and its signifi- cance in the kidneys patients with MsPGN. Methods CD11a, CD11b and CD62L expression in blood of MsPGN patients (n=35) were investigated by flow eytometry method, and the changes of these proteins in kidney were surveyed. Results In MsPGN, CD11a and CD11b expression in blood were significandy lower and CD62L expression in blood were markedly higher than that in normal humans. And the renal glomeruli of MsPGN also expressed CD11a, CD11b and CD62L. Conclusion The expression of CD11a, CD11b and CD62L are abnormal in MsPGN, and apoptosis may play certain role in the pathogenesis of MsPGN.

The studying of rantes in the nurine infection of VVC / 中国医师杂志

Objective To study the kinetic expression level of chemokines (RANTESF) in the murine infection of vulvovaginal can-didiasis (VVC), and explore the function of chemokines in local immunity of VVC. Method Sixty-three female Kunming mice, at 8 ～ 10 weeks of age, were used in this study. All animals were divided into three groups. The content variation of RANTESF in blood and yaginal fluids and CFU of vaginal fluid in each separate group of mice were detected at days 2, 7, and 14 after infection. The first group was control group. The second group was infected only one time and the third group was infected twice. The results were analyzed with SPSS 13.0 statis-tical software. Results The content variation of RANTESF and CFU in vaginal fluid reached highest at days 7 in both the first and the sec-ond groups, as well as in the blood. There were no notable changes at days 2 and 14. The content variation in vaginal fluid or blood of the second group was higher than that in the first group after infection. Conclusion CMI, as a host defense mechanism, plays an important role in protecting against vulvovaginal candidiasis, especially in secondary infection. Local innate immunity is more important than systemic in-nate immunity for protection against vulvovaginal candidiasis. Cytokine about RANTES can promote innate immunity modulation; especially the local innate immunity modulation can promote the ehemotaxis of RANTES.

PBL+LBL Double-track Practice in Gynecology and Obstetrics Teaching / 中华医学教育探索杂志

Objective:To investigate the effect of PBL+LBL double-track in long-term-system clinical medicine in Gynecology and Obstetrics.Methods:We divided the students of 2001-seven-year-progrems in random into two groups: trial group practiced PBL+LBL double-track teaching,control group practiced LBL teaching.Results The results showed that although the two groups had no significant difference in examinational total score and in foundational subjects,but the trial group had a significant higher score in comprehend subjects.The students exhibited great enthusiasm to the PBL.And the students learned and absorbed more knowledge of gynecology and obstetrics and literature retrieval.The education method played a comprehensive functional role for the teacher-directed and student-oriented tutorial process,and the teaching effects improved.Meanwhile,the teachers need to be prepared with more knowledge to meet the students query.Conclusions:PBL+LBL double-track teaching method can improve the students'activeness and can culture their ability of self-study;and at the same time the new teaching method can remain the systematicness,profundity and extent of knowledge.It is a better way in clinical education,and is well accepted by both students and teachers as it can greatly improve teaching efficacy.