Correlation between genotypes with metabolic markers and microstructure of bones in children with Gitelman syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the correlation between the genotypes and metabolic markers and microstructure of bones in children with Gitelman syndrome (GS).@*METHODS@#For 15 children with GS and 10 healthy individuals, baseline data and bone metabolic markers including parathyroid hormone, alkaline phosphatase, osteocalcin, N-terminal propeptide of type I procollagen, beta isomer of the C-terminal telopeptide of type I collagen and 25-hydroxyvitamin D, high-resolution peripheral quantitative computed tomography indicators (volumetric bone mineral density, bone microstructure indicators) were collected. Genetic testing was carried out to determine their genotypes.@*RESULTS@#The volumetric bone mineral density, bone geometry and bone microstructure parameters of the GS group were better than those of the healthy controls (P<0.05). Variants of the SLC12A3 gene were identified in 9 of the 15 patients but none of the 10 healthy controls.@*CONCLUSION@#The phenotype of GS children is influenced by the interaction of genetic variants, though the phenotype associated with high frequency mutations showed no specificity. There is also a correlation between their genotype and the bone microstructure.

A case of 16p13.11 microdeletion syndrome with febrile convulsion as the main manifestation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a girl with febrile convulsion as the main manifestation.@*METHODS@#The child was subjected to whole exome sequencing (WES) and copy number variation sequencing(CNV-seq). Fluorescence quantitative PCR was carried out to validate the microdeletion in her family.@*RESULTS@#The 7-year-old girl was diagnosed with febrile convulsion (complex type) for having fever for 3 days, mild cough and low thermal convulsion once. Her father, mother and aunt also had a history of febrile convulsion. A heterozygous deletion with a size of approximately 1.5 Mb was detected in the 16p13.11 region by WES and CNV-seq. The deletion has derived from her father and was confirmed by fluorescence quantitative PCR.@*CONCLUSION@#16p13.11 microdeletion syndrome has significant clinical heterogeneity. Different from those with epilepsy, mental retardation, autism, multiple malformations, carriers of 16p13.11 deletion may only manifest with febrile convulsion. Deletion of certain gene(s) from the region may be related to febrile convulsion and underlay the symptom of this child.

Early diagnosis and early treatment for liver cancer in Qidong: survival of patients and effectiveness of screening / 中华肿瘤杂志

Objective@#To evaluate the patients′ survival and effectiveness of the live cancer screening for population at high risk for liver cancer in Qidong.@*Methods@#According to the Expert Scheme proposed the Expert Committee of Early Detection and Early Treatment, China Cancer Foundation, diagnostical screening by using combined methods of alpha-fetoprotein and B ultrasound monitoring were carried out biannually in individuals with positive HBsAg who were screened from Qidong area. The evaluation indices of the effectiveness are task completion rate of screening, detection rate of liver cancer, early diagnosis rate, and treatment rate. The deadline of the follow-up for the surviving outcome was March 31, 2016. The life-table method was used to calculate the observed survival, and to make comparison and significant tests between survival rates in Group A (those found via repeated periodic screening) and Group B (those diagnosed without periodic screening).@*Results@#Since 2007, 38 016 target population have been screened, and 3 703(9.74%) individuals with positive HBsAg were found. Except for 29 patients with liver cancer at the initial screening, 3 674 persons in the cohort were followed up; 268 patients with liver cancer were detected from the 33 199 person-times screening, with an annual detection rate of 1.61%. Of them, 186 patients were found in Group A(1.12%), in which 149 patients were the early cases, with an early detection rate of 80.11%; 167 out of 186(89.78%) patients received treatment after diagnosis. The incidence of liver cancer in this HBsAg (+ ) cohort of 25 452 person-years was 1 052.96 per 100 000 annually, 187 cases in males(1 488.45/100 000)and 81 cases in females(628.46/100 000). The 1-, 3-, 5-, and 8-year survival of all patients with liver cancer were 64.55%, 40.50%, 32.54%, and 19.65%, respectively. The 1-, 3-, 5-, and 8-year survival rates were 77.16%, 49.04%, 38.53%, and 24.25% in Group A, and were 36.25%, 21.21%, 21.21%, and 0% in Group B, respectively, with significant differences between two groups (P<0.05).@*Conclusion@#The findings show that screening of individuals at high-risk of development of liver cancer, with semiannual AFP and B ultrasound, according to the Expert Scheme, is effective not only in increasing detection rate but also in detecting liver cancer at early stage, and in improving patients′ survival as well.

A case of vocal cord contact granuloma after vocal cord polyp surgery / 临床耳鼻咽喉头颈外科杂志

The vocal cord polyp is easy to relapse after surgery, but if the patient has recurrence in a short term, it is necessary to consider it as postoperative vocal cord contact granuloma. If the patients with contact granuloma after surgical treatment had severe impact on the pronunciation, it is necessary to be operated and confirmed by pathology and given the treatment of acid suppression, in order to avoid postoperative recurrence.

Treatment of complex maxillary sinus through windowing middle meatus maxillary sinus and the frontal recess of tears under nasal endoscope / 中国基层医药

Objective To explore the feasibility and efficacy of windowing middle meatus maxillary sinus and the frontal recess of tears to treat complex maxillary sinus under the nasal endoscope.Methods Clinical data of 22 patients with complex maxillary sinus lesions were analyzed retrospectively,which were adopted by the approach surgical treatment of through windowing middle meatus maxillary sinus and the frontal recess of tears.In which varus papilloma in 11 cases,5 cases of fungal maxillary sinusitis,3 cases of hemorrhagic and necrotic polyps,recurrent nasal polyps in 3 patients.After operation,they were all taken CT or MRI examination.Nasal cavity and other sinus lesions were first removed,the maxillary sinus ostium were opened through the nasal passages.Then,the maxillary sinus lesions were removed by the frontal recess of tears operation.Results Through the treatment of postoperative nasal cavity irrigation,these cases were followed up for 6 to 18 months.All cases incisions were healed completely,sinus cavity epithelium and clinical symptoms disappeared gradually.No injuries of nasolacrimal duct and complications such as facial numbness.Conclusion The method of the nasal passages joint the frontal recess of tears to treat the complex maxillary sinus benign lesions is a worthy selection of surgical procedures.Its eye shot is open and convenient operation,it can remove maxillary sinus lesions thoroughly and has fewer complications.

Intrahepatic hepatitis B virus covalently closed circular DNA correlation with serum HBV DNA, serum HBsAg, alanine aminotransferase and age / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To investigate the correlation between intrahepatic eovalently closed circular (ccc)DNA of hepatitis B virus (HBV) and pathogen-and patient-related parameters.</p><p><b>METHODS</b>Ultrasound-guided liver biopsies were obtained from 60 patients with chronic HBV infection. Levels of intrahepatic HBV cccDNA and serum HBV DNA were measured by quantitative fluorescence PCR. Level of serum hepatitis B surface antigen (HBsAg) was measured by chemiluminescence immunoassay. Clinical parameters, such as alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyl transferase (GGT), alkaline phosphatase (AKP), albumin, globulin (GLO), white blood cell, platelet, prothrombin-international normalized ratio, were measured by standard assay. Demographic information was recorded.The correlation between intrahepatic HBV cccDNA and pathogen-and patient-related parameters was assessed.</p><p><b>RESULTS</b>Intrahepatic HBV cccDNA level was negatively correlated with age, GLO, ALT and grade of necroinflammation. Patients with age of 30 years or more showed significantly higher level of HBV cccDNA level than patients under 30 years-old (7.44±0.58 and 5.66±1.35; t=7.157, P less than 0.001). Intrahepatic HBV cccDNA level was positively correlated with serum HBV DNA level (r=0.916, P less than 0.001) and serum HBsAg level (r=0.727, P less than 0.001). The median ratio of HBV cccDNA to HBV DNA was 1.18, and of HBV cccDNA to HBsAg was 1.67.</p><p><b>CONCLUSION</b>Intrahepatic HBV cccDNA levels decrease with age, level of ALT, level of GLO and grade of liver necroinflammation, but increase with level of serum HBV DNA and level of serum HBsAg. To a certain extent, serum HBV DNA and serum HBsAg levels may be a sufficient marker of intrahepatic HBV cccDNA levels.</p>

Detection of the covalently closed circular DNA in peripheral blood mononuclear cells of hepatitis B patients and its clinical significance / 中华传染病杂志

Objective To analyze the correlation between covalently closed circular DNA (cccDNA) in the peripheral blood mononuclear cells (PBMC) of hepatitis B virus (HBV)-infected patients and serum HBV DNA,hepatitis B surface antigen (HBsAg),hepatitis B e antigen (HBeAg) and liver histology of hepatitis B patients,and to explore the clinical significance of HBV cccDNA detection in PBMC.Methods One hundred and eight patients with chronic HBV infection were involved in this study.PBMC were extracted using density gradient centrifugation.HBV cccDNA in PBMC and serum HBV DNA were detected by real-time fluorescence quantitative polymerase chain reaction.HBsAg and HBeAg were detected by chemiluminescence immunoassay.Liver biopsy was conducted in 59 out of the 108 patients.Chi-square test was used to compare the categorical variables.Correlation analysis was used to compare quantitative variables.Nonparametric test was used to compare the non-normal distribution parameters.Results In the overall population,HBV cccDNA in PBMC was positive in 59 patients (54.6％).Eleven of the 15 patients with liver failure were found to be HBV cccDNA positive,which was significantly higher than that in the acute hepatitis B group (only 2 of the 8 patients were HBV cccDNA positive; x2 =4.960,P＜0.05).One hundred and eight patients were categorized into three groups according to their serum HBV DNA levels,with group A:＞5 lg copy/mL,group B:3-5 lg copy/mL and group C:＜3 lg copy/mL.The proportions of HBV cccDNA positivity in PBMC in three groups were 76.1％ (51/67),5/18 and 13.0％ (3/23),respectively.Comparing with patients with lower HBV DNA (group B and C),the proportion of HBV cccDNA positivity was higher in patients with higher HBV DNA (group A; x2=14.751,P＜0.05 and x2 =28.384,P＜0.05,resepectively).The HBV cccDNA quantitation in PBMC was positively correlated with the serum HBV DNA level and HBsAg quantification (r=0.554,P＜0.05 and r=0.497,P＜0.05,respectively).The proportion of HBV cccDNA positivity in PBMC of patients with liver histology ≥G2 and/or ≥S2 was significantly higher than that in patients with liver histology ＜ G2/S2 (x2 =9.159,P＜0.05).Conclusions HBV cccDNA exists in PBMC of hepatitis B patients.The HBV cccDNA quantitation in PBMC is positively correlated with the serum level of HBV DNA and HBsAg quantification,and is also associated with liver histology injury.

Efficacy of modified uvula palatopharyngeal plasty in the treatment of obstructive sleep apnea syndrome / 重庆医学

Objective To explore the efficacy of modified uvula palatopharyngeal plasty in the treatment of obstructive sleep ap-nea syndrome(OSAHS) .Methods 145 cases of OSAHS patients were treated from June 2006 to June 2010 in our hospital ,of which 54 were treated by traditional UPPP surgery ,and the remaining 91 cases were treated by h-UPPP surgery .Compared its effi-cacy by the preoperative and postoperative polysomnography map (PSG) analysis .Results In 145 cases of patients with OSAHS , the PSG monitoring indicators of 1 year after surgery were compared with preoperative ,and there were significant difference in the apnea total time(AI) ,the breathing hypopnea index(AHI) ,the lowest oxygen saturation(SaO2 )(P<0 .05) .The subjective symp-toms in postoperative recovery process of modified UPPP ,such as dry throat ,open nasal ,nasopharyngeal reflux symptoms were sig-nificantly reduced than that of traditional UPPP surgery .Conclusion h-UPPP surgery have a good effect .

Clinical significance of serum testosterone levels in young and middle-aged men with type 2 diabetes mellitus accompanied by erectile dysfunction / 中华内分泌代谢杂志

The relationship of erectile dysfunction (ED) with serum levels of total testosterone (TT) and free testosterone (FT) was investigated in 53 men with type 2 diabetes under 50 years of age.The relevant clinical status was matched and no significant difference was noticed for TT [ ( 14.11 ±5.81 vs 14.97 ±4.93 ) nmol/L] and FT [ (9.31 ± 8.84 vs 8.72 ± 5.33 ) pg/ml ] levels in type 2 diabetic patients with and without ED.This study has demonstrated that testicular androgen may not contribute to ED in young and middle-aged men with type 2 diabetes.

A New Fluorescence Immunosensing Method Based on Aptamer-plasmid Complex Amplification / 分析化学

A novel simple,sensitive fluorescence immunosensing method based on aptamer-plasmid complex amplification was developed. This method utilized the specific recognition between antibody and antigen as well as aptamer-plasmid complex and the intercalation of fluorescence dye SYBR Green Ⅰ in the groove of duplex plasmid DNA in detection of Platelet-Derived Growth Factor BB (PDGF-BB). The immunoassay was performed in the microtiter wells in which rabbit anti PDGF-BB antibody was immobilized. The PDGF BB analyte was captured by the primary antibody and then sandwiched by the aptamer-plasmid DNA complex. The introduction of fluorescence dye SYBR Green Ⅰ allows for the detection of the sandwiched immunocomplex of antibody/anigen/aptamer-plasmid complex. Under the optimized conditions of salt concentration,ratio of aptamer to PUC19,and SYBR Green Ⅰ concentration,the proposed method offers a linear detection range from 0.2 μg/L to 200 μg/L with a detection limit of 0.1μg/L.

Clinical analysis of primary nasal cavity-nasal sinuses T/NK cell lymphoma / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the clinical feature, diagnosis, treatment and prognosis of primary nasal cavity-nasal sinuses T/NK cell lymphoma.@*METHOD@#Twenty-six patients with primary nasal cavity-nasal sinuses T/NK cell lymphoma were retrospectively analyzed. They were treated from January 2003 to December 2005.@*RESULT@#In this case, there were 17 males and 9 females, ranging from 16 to 68 years old. The clinical symptoms included rhinostegnosis, rhinorrhea and epistaxis, intumescence, pain, fever and so on. These tumors showed extensive soft tissue and bone invasion, necrosis and ulceration. The pathological diagnosis and immunohistochemical tests were performed in 26 cases and 21 cases respectively. Nineteen of these patients died, and the duration from onset to death ranged from 2 to 28 months.@*CONCLUSION@#The primary nasal cavity-nasal sinuses T/NK cell lymphomas are a distinct category of the non-Hodgkin's lymphoma (NHL). They appear to carry a high malignancy and pursue a aggressive course. They are easy to be misdiagnosed. The prognosis is not satisfactory, and the therapy should be given as early as possible.

The Role of Oxidative Stress in Hypoxia/Reoxygenation Induced Injury in Vascular Endothelial Cells / 中华高血压杂志

0.05). H/R injury significantly decreased the GSH level (P