Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS).@*METHODS@#Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants. CLUSTALX was employed to analyze cross-species conservation of the mutant amino acids. Impact of the mutations was predicted by using software including PolyPhen-2 and Mutation taster.@*RESULTS@#The pair of twins have featured growth and intelligence retardation, and were found to carry compound heterozygous variants of the ANTXR2 gene including c.1214G>A and c.1074delT, among which c.1214G>A was unreported previously. Both variants were predicted to be pathogenic. In addition to growth and mental delay, the pair of twins also featured hyperplasia of the gum and soft tissue-like masses of the auricle. The younger brother had rupture of the auricle mass during follow-up.@*CONCLUSION@#The patients' condition can probably be attributed to the compound heterozygous variants of the ANTXR2 gene. Above finding has facilitated molecular diagnosis of the patients.

Value of colposcopy screening independently for cervical lesions in basic hospitals / 中国医师杂志

Objective To evaluate the value of colposcopy screening independently for cervical lesions in basic hospitals.Methods A retrospective cohort study of 574 patients who both underwent colposcopy and had pathologic results in our department.The consistency,authenticity and predictability of colposcopy and pathological results,the relevant factors affecting the accuracy of colposcopy diagnosis,and the analysis of unsatisfactory colposcopy results were analyzed.Results Agreement between colposcopic diagnosis and cervical pathology was 50.57％,and Kappa value of consistency was 0.358 (P ＜ 0.01).Agreement within one grade was 91.38 ％ (Kappa value was 0.871,P ＜0.01).The sensitivity of colposcopy in diagnosing of low-grade squamous intraepithelial lesion (LSIL) and above was high (96.91％),while the specificity was 52.60％ (81/154);False positive rate was 47.40％,and false negative rate was 3.09％.The sensitivity of colposcopy in diagnosing of high-grade squamous intraepithelial lesion (HSIL) and above was 81.82％ (153/187),and the specificity in diagnosing of LSIL and below was 90.68％ (146/161);False positive rate was 9.3％,and false negative rate was 18.2％.The stage of cervical cancer and skills of colposcopist would be factors that influence the accuracy of colposcopy screening in HSIL and above (P ＜0.01).Average age in unsatisfactory colposcopy was (52 ± 9) y,which was significantly different from satisfactory colposcopy cases (P ＜ O.O1).The proportion of early cervical lesions in patients with unsatisfactory colposcopy HSIL or above was high.Conclusions The complete coincidence rate between colposcopy and pathological diagnosis is limited,but the consistency within one grade is good;the stage of cervical lesions and the experience of examiners are the factors related to the accuracy of colposcopy in diagnosing HSIL and above lesions;Unsatisfactory colposcopy cases can be further combined with cytology and HPV examination for shunt and treatment.

Incidence and risk factors of macular edema after cataract surgery in patients with type 2 diabetes mellitus / 中国基层医药

Objective To investigate the incidence and risk factors of macular edema (ME) after cataract surgery in patients with type 2 diabetes mellitus (T2DM),and to provide a reference for clinical treatment.Methods From March 2014 to April 2017,128 cases of cataract phacoemulsification and intraocular lens implantation in Jincheng Ophthalmology Hospital were retrospectively analyzed,of whom 36 cases(36 eyes) without diabetes were A group,41 patients(41 eyes) with no retinopathy were B group,51 cases(51 eyes) of T2DM patients with retinopathy were C group.The incidence of ME,the BCVA and the CSMT of the three groups were compared,and the Logistic multiple factor regression analysis was used to analyze the risk factors of DME after T2DM cataract surgery.Results The incidence rates of ME in A,B and C group were 5.56％,29.27％ and 50.98％,respectively,and the difference was statistically significant (x2 =6.567,P ＜ 0.05),and that of C group ＞ B group ＞ A group (x2 =4.419,19.951,all P ＜0.05).The BCVA after operation in A group,B group and C group,was (0.26 ±0.08),(0.19± 0.04) and (0.08 ± 0.01),respectively,the difference was statistically significant (F =9.352,P ＜ 0.001),and that of group A ＞ group B ＞ group C (t =4.950,2.030,P ＜ 0.05).The CSMT after operation in A group,B group and C group was (246.35 ± 23.73) μm,(249.52 ± 20.95) μm and (289.31±43.82) μm,respectively,the difference was statistically significant (F =9.352,P ＜ 0.001).Logistic multivariate regression analysis showed that preoperative retinopathy [3.672 (0.261-0.961),P =0.000],preoperative ME [3.862 (0.136-0.769),P =0.001] were independent risk factors for the occurrence of ME after T2DM.Conclusion The incidence of ME is higher after T2DM cataract surgery,and the risk of ME is higher in patients with preoperative ME and preoperative diabetic retinopathy.

Dosimetric study and suitable population between 3-and 2-dimensional brachytherapy for cervical cancer at different locations / 中华放射肿瘤学杂志

Objective To investigate the effect of different uterine positions upon the dose distribution and target area conformability of organ at risk ( OAR) and explore the population suitable for 2-dimensional brachytherapy by comparing the dosimetry between CT-guided 3-and 2-dimensional brachytherapy for cervical cancer. Methods Thirty patients with cervical cancer received 72 cycles of 3-dimensional brachytherapy and then 2-dimensional brachytherapy was designed. The deviation angle of the uterus from the longitudinal asix on the coronal and sagittal CT images was measured. The obtained data were divided into the A to D and the group Ⅰ to Ⅳ according to the deviation angle ( T) of uterus position from the longitudinal axis on the sagittal CT images and the volume of HRCTV ( VHRCTV) to identify the optimal uterine position and range of VHRCTV for 2-dimensional brachytherapy. Statistical analysis was performed by paired t-test. Results The deviation angle of uterine position was not significantly correlated with the target CI index or D90 of HRCTV in both brachytherapy plans ( P value between 0. 077-0. 633 ) , whereas it was positively correlated with the D2 cm3 of bladder ( P value between 0. 001-0. 030) and negatively associated with the D2 cm3 of rectum in both 2-and 3-dimensional brachytherapy (P value between 0. 011-0. 016).In group B (|T|≤10°) and group Ⅲ(VHRCTVvalue between 86-96 cm3),the OAR parameters and CI index did not significantly differ between two brachytherapy plans ( P value between 0. 040-0. 463 ) , whereas varying degree of statistical differences was observed among other groups (P value between 0. 000-0. 940). Conclusions Although uterine position exerts no effect upon the conformal index of target area, it can affect the dose distribution of OAR. No statistical significance is noted in the dosimetry between 3-and 2-dimensional brachytherapy plans when the uterine position is almost flat (|T|≤10° ) and the radiotherapy target area is appropriate ( VHRCTVvalue between 86-96 cm3 ) . In this situation, 2-dimensional brachytherapy is the optimal option.

Resveratrol attenuates LPS-induced cell injury and TLR4/NF-κB activation in human periodontal ligament cells / 实用口腔医学杂志

Objective:To investigate the protective effect of resveratrol on lipopolysaccharide (LPS)-induced cell injury in human periodontal ligament cells(hPDLCs).Methods:hPDLCs were cultured and identified.The cultured hPDLCs were divided into 5 groups:control group and LPS(10 μg/ml) + RES(0/30,60 and 90 μmol/L respectively) groups.The cell proliferation was detected by MTI assay.The secretion of TNF-α and IL-6 of hPDLCs was detected by ELISA kit.The expression of TLR4/NF-κB mRNA and protein was determined by PCR and Western blot analyses,respectively.Results:The cultured cells were negative for cytokeratin and positive for vimentin staining.Compared with the control group,cell proliferation was decreased,the secretion of TNF-α/IL-6 levels and the expression of TLR4/NF-κB mRNA and protein were increased after treatment with LPS.Whereas,with 30-90 μmol/L resveratrol pretreatment,the proliferation ability of hPDLCs was enhanced(P ＜ 0.05),the secretion levels of TNF-α and IL-6 and the expression of TLR4/NF-κB mRNA and protein were reduced (P ＜ 0.01) in a dose-dependent manner.Conclusion:Resveratrol may attenuate LPSinduced cell injury by inhibiting TLR4/NF-κB pathway in hPDLCs.

The study of the value of combined detection of serum tumor markers in the diagnosis of lung cancer / 国际检验医学杂志

Objective To explore the value of combined detection of serum tumor markers in the diagnosis of lung cancer.Meth-ods Electrochemiluminescence immunoassay was used to detect 5 kinds of tumor markers in 86 patients with lung cancer,92 pa-tients with benign lung disease and healthy persons,serum levels of neuron specific enolase(NSE),carcinoembryonic antigen (CEA),squamous cell carcinoma antigen(SCCAg),carbohydrate antigen 125(CA125)and cytokeratin fragment 21-1(CYFRA21-1).The difference of tumor markers in different patients and different pathological types of lung cancer and the difference of single and combined detection of tumor markers in the diagnosis of lung cancer were compared.Results The serum levels of NSE,CEA, SCC,CA125 and CYFRA211 in patients with lung cancer were significantly higher than those in benign lung disease group and healthy control group,and the difference was statistically significant(P<0.05).The average level of NSE in the serum of patients with small cell lung cancer was higher,CEA,CA125 levels in the serum of patients with adenocarcinoma was higher,and the levels of SCC and CYFRA211 in the sera of patients with squamous cell carcinoma were higher.The combined detection of serum tumor markers is more sensitive than that of the single detection,and the combined detection of NCE,CEA and CYFRA211 has relatively high specificity and accuracy.The combined detection of 5 serum indexes has the highest sensitivity,but its specificity is low,only 81.53%.Conclusion The single tumor marker has certain limitation whose sensitivity and specificity have great differences for dif-ferential diagnosis of different pathological types of lung cancer,and combined detection of the serum tumor markers can be mutual-ly complementary,which could have high sensitivity and accuracy.

Current situation of healthcare-associated infection management in 36 pri-mary medical institutions in Henan Province / 中国感染控制杂志

Objective To investigate the current situation and existing problems of healthcare-associated infection (HAI)management in primary medical institutions in Henan Province.Methods 36 primary medical institutions in 18 regions were investigated with random sampling method,development of HAI management in primary medical institutions before and after 2013 were compared.Results Among 36 primary medical institutions,31 (86.11 %) had cleaning,disinfection,sterilization,and isolation systems,13 (36.11 %)implemented HAI monitoring system, 31 (86.11 %)performed regular training on hand hygiene knowledge,6 (16.67%)allocated antimicrobial manage-ment professionals.The development rates in HAI management group,hand hygiene system,training on related knowledge among staff,HAI monitoring,and antimicrobial management in 36 primary medical institutions before 2013 were all lower than those after 2013 (41 .67% VS 75.00%;2.78% VS 30.56%;22.22% VS 69.44%;5.56%VS 33.33%;25.00% VS 66.67%,all P <0.05).Conclusion HAI management level in primary medical institu-tions has improved than before,but deficiencies still exists and needs further improvement.

Clinical observation of Chinese medical gargle on gingivitis of the patients during fixed orthodontic treat-ment / 实用口腔医学杂志

Objective:To observe the clinical efficacy of Chinese medical gargle on gingivitis of the patients wearing fixed appliance. Methods:60 gingivitis patients with fixed orthodontic treatment were randomly divided into chlorhexidine gargle group( CG group) and Chinese medical gargle group(CMG group)(n=30). Gingival index(GI) and sulcus bleeding index(SBI) in all patients were tested, then the patients were treated by scaling and curettage, and guided to use gargling with corresponding gargle 3 times a day for 14 d. GI and SBI were tested after 7 and 14 days respectively. Data were analysed. Results:After 7 d treatment, GI and SBI were decreased( P<0. 05) and there was no obvious difference between the 2 groups(P<0. 05). After 14 d treatment GI and SBI in CMG group de-creased more than those in CG group(P<0. 05). Conclusion:Chinese medical gargle is effective in the treatment of gingivitis of the patients during fixed orthodontic treatment.

Diagnosis and treatment for 2 cases of tuberous sclerosis complex with pulmonary lymphangioleiomyomatosis / 中南大学学报(医学版)

To improve the diagnosis and treatment for tuberous sclerosis complex (TSC) with pulmonary lymphangioleiomyomatosis, a retrospective analysis was performed based on the clinical data of 2 patients with such disease. Both of them have typical thin-walled cystic lesion throughout the lung field, renal angioleiomyolipoma, and various degrees of skin lesions. Central nervous system is involved in one patient. Lesions in the lung and kidney in one patient were improved significantly after 5 months of rapamycin treatment. The clinical phenotypes were diverse in TSC patients. The CT imaging showed typical characteristics when the lung was invaded by the tumor. When a patient was diagnosed as pulmonary lymphangioleiomyomatosis, we should pay attention to the clinical screening of TSC. Rapamycin is an effective and safe treatment for this disease.

Medical waste management in primary medical institutions in China / 中国感染控制杂志

Objective To understand the current situation of medical waste management in primary medical insti-tutions in China.Methods The management of medical waste in 95 primary medical institutions in 5 provinces of China in 2016 were investigated.Results Of 95 primary medical institutions,90(94.74%)dispose medical waste by centralized processing,92(96.84%)separately collect medical waste,89(93.68%)have specific locations for temporary waste storage and handover registration,46(48.42%)have wastewater treatment facilities,and are re-sponsible by full-time or part-time personnel.Before 2000,only 4 (4.21%)primary medical institutions carried out medical waste classification management and centralized disposal,which increased to 92(96.84%)and 90(94.74%) respectively in 2014;before 2000,only 5(5.26%)primary medical institutions conducted temporarily medical waste storage and treatment,which increased to 89(93.68%)in 2014.Conclusion Medical waste management in primary medical institutions has been improved significantly,but there still remain some problems,training relevant to waste management knowledge needs to be strengthened among health care workers,medical waste management procedures should be standardized,sound medical waste management and supervision system should be improved.

Current status of healthcare-associated infection organization management systems in primary medical institutions in China / 中国感染控制杂志

Objective To investigate the current situation of healthcare-associated infection(HAI)organization management systems in primary medical institutions.Methods 95 primary medical institutions in 5 provinces (au-tonomous regions,municipalities)in China were investigated.Results Of 95 primary medical institutions,82 (86.32%)established HAI management groups,65 (68.42%)set up antimicrobial management departments,87 (91.58%)assigned professionals for antimicrobial management.Before 2010,only 26 antimicrobial management departments were set up,which increased to 65(68.42%)in 2015.Hospitals established rules and regulations on medical waste management (n=93,97.89%),disinfection and sterilization(n = 87,91.58%),disposable sterile medical device (n=87,91.58%),HAI prevention and control measures (n=79,83.16%),occupational health and safety protection for health care workers(n=76,80.00%),outbreak reporting system (n=73,76.84%),hand hygiene (n=69,72.63%),and monitoring on HAI (n=56,58.95%).Conclusion Current situation of HAI or-ganization management systems in primary medical institutions needs to be improved,health administrative depart-ments should strengthen supervision to improve the level of HAI prevention and control.

Expression of Lgr5 in chronic superficial gastritis / 中国病理生理杂志

[ ABSTRACT] AIM: To investigate the expression and significance of Leucine-rich repeat-containing G-protein-coupled receptor 5 (Lgr5) in chronic superficial gastritis.METHODS:The Wistar rats (n=30) were randomly divided into blank group, model group and control group.The Wistar rat model of chronic superficial gastritis was established by in-tragastric administration of 0.02%ammonia and long-term irregular diet.All rats were sacrificed, and gastric tissues were harvested and stained with hematoxylin and eosin.The expression of Lgr5 at mRNA and protein levels was analyzed by re-verse transcriptional polymerase chain reaction, Western blotting and immunohistochemistry.RESULTS:Lgr5 was mainly expressed in the cell membrane and cytoplasm.Lgr5 showed high expression in model group compared with blank group and control group.No obvious difference between blank group and control group was observed.CONCLUSION:Persistent in-flammation leads to increased expression of Lgr5.Lgr5 may be a proinflammatory tumor promoting factor.

Progress in molecular genetics in autoimmune polyendocrinopathy syndrome type Ⅰ / 国际儿科学杂志

Autoimmune polyendocrinopathy syndrome type Ⅰ( APS-Ⅰ) is a rare autosomal recessive disorder caused by mutations in autoimmune regulator gene( AIRE) . A number of mutations have been described in the AIRE gene of patients with APS-Ⅰ, including nonsense mutation, missense mutation, silent mutation, splice site mutation, insertions and deletions mutation, et al. The mutation characteristics of the APS-Ⅰ pathogenic gene have been reviewed in the article.

Autoimmune regulator gene mutations in a Chinese family with autoimmune polyendocrinopathy syndrome type I / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the mutation of the autoimmune regulator gene (AIRE) in a Chinese family with autoimmune polyendocrinopathy syndrome type I (APS-I).</p><p><b>METHODS</b>The AIRE gene mutations were detected using PCR and direct DNA sequencing. Restriction enzyme analysis was used to confirm the mutations and bioinformatic methods were used to predict the possible impact of the mutations on the structure and function of the AIRE protein.</p><p><b>RESULTS</b>A compound heterozygous mutation of A19T/R257X was detected in the proband. Her father had the A19T mutation in exon 1, but this mutation was not detected in 100 unrelated healthy individuals. Her mother had the R257X mutation in exon 6.</p><p><b>CONCLUSION</b>This is the first report about AIRE mutations in Chinese APS-I kindred. The A19T mutation identified in this study has not been reported in the human gene mutation database (HGMD); the R257X has not been reported in Asians.</p>

Evaluation of color Doppler ultrasonography in the first dorsal metatarsal artery diabeties patients / 中国基层医药

Objective Applying color Doppler ultrasonic test on the first dorsal metatarsal arteries,to acquire relevant Doppler bloodstream parameters,and in the end,to explore the clinical value of this approach.Methods Applying GE-LOGIQ-400 color Doppler high-frequency ultrasonic test on the first dorsal metatarsal arteries of 100 diabetes patients,contrasting to those of 60 normal persons,observing the origination,trend,smooth of bloodstream,angioplerosis Status,analyzing bloodstream spectrum(including the interior diameter of blood vessel,spectrum status,bloodstream speed,drag index,erc.),and contrasting the resuits.Results The first dorsal metatarsal arteries of diabetes patients have narrower interior diameter,faster bloodstream speed,higher drag index than those of non-diabetes patients.Conclusion The high-frequency color Doppler ultrasonography can provide objective clinical evidence on the test of the first dorsal metatarsal arteries diseases.

Hospital Infection in Respiratory Intensive Care Unit:Clinical Analysis and Prevention and Control Measures / 中华医院感染学杂志

OBJECTIVE To determine the distribution of pathogens of bacterial infection in respiratory intensive care unit (RICU) to provide reference for the prevention of hospital infection. METHODS To collect specimens of the patients received endotracheal intubation from Jan 2006 to Dec 2006 in our RICU,to identify pathogens and drug sensitivity test. RESULTS We isolated 105 pathogenic bacteria from 626 specimens of the 58 patients,the G-bacilli accounted for 64.76%,G+ cocci accounted for 20.95%,fungi accounted for 12.38%; Acinetobacter baumannii was one of the main G-bacilli accounted for 19.05%. Staphylococcus aureus of G+ cocci for 9.52%,and Candida albicans of fungi for 7.62%; from 105 pathogens,65 from the respiratory tract,15 from the for urinary tract,eight from a catheter tube,six from the digestive tract,five from the blood,four from the various drainage tubes and two from the incision secretions. CONCLUSIONS Hospital infection pathogens exist in the respiratory tract infection in hospitalized patients of respiratory ICU with risk factors of age,underlying diseases,time in the intensive care unit,ventilator time and the use of invasive procedures in a certain relationship.