Case-Control Studies ; Child, Preschool ; Congenital Hypothyroidism ; DNA ; genetics ; Female ; Humans ; Hypothyroidism ; genetics ; Infant ; Iodine ; metabolism ; Male ; Mutation ; Polymerase Chain Reaction ; Sodium ; metabolism ; Symporters ; genetics

Objective: To improve the database of medical equipment archives system and manage medical equipment more scientifically and efficiently. Methods:According to the needs of medical equipment management, the problems of medical equipment archives system would be analyzed and addressed. Results:In recent medical equipment archives system, the database of usage rate, cost-effectiveness, maintenance costs and property management should be improved. Conclusion:The improved archives system could provide reliable basic data and multi-faceted sharing for medical equipment dynamic management.

Objective To observe the efficacy of pulsed dual-wavelength 595 and 1064 nm laser in treating ulcerated infantile hemangioma.Methods Lesions from 40 patients were treated with the laser.The distribution of lesion sites was in buttuck and perianal area (13 patients),vulvar lips (7),groin and inside thigh (5),scrotum (4),neck (3),scalp (2),lip (2),trunk and limbs (4).All lesions including ulcer and non-ulcer were conducted with 595 nm plused dye leaser at the first therapy.Later,595 nm pulsed dye leaser was continued or performed with Group 1 or Group 2 parameter of 595 and 1064 nm multiplex mode until the treatment was finished according to the thickness of the lesion.The frequency of treatment was one to six times.The interval of the treatment was four weeks.Results The ulcer from 39 lesions healed gradually in 1 to 2 weeks (average 9.5 days) after the first treatment.These ulcer lesions were healed four weeks after the first time of therapy.The recovery rate of ulcerated lesion was 97.5 ％.For the whole lesion,after 1 to 6 treatments,13 lesions showed excellent result,19 lesions showed good result,and the effective rate was 80 ％.Pain relieved 2 to 7days (average 3.5 days) after the first laser therapy in 35 patients who accompanied with pain.Pain score decreased from 1.875 to 0.125 before and after treatment,with significant difference(P＜0.05).The tolerance of the treatment was good and no side effect was observed.Conclusions 595and 1064 nm dual-wavelength laser is a safe and effective tool for treating ulcerated infantile hemangioma.

OBJECTIVE: To evaluate and compare whole exome sequencing (WES) and targeted panel sequencing in the clinical molecular diagnosis of the Chinese families affected with inherited retinal dystrophies (IRDs). METHODS: The clinical information of 182 probands affected with IRDs was collected, including their family history and the ophthalmic examination results. Blood samples of all probands and their relatives were collected and genomic DNA was extracted by standard protocols. The first 91 cases were subjected to the WES and the other 91 cases were subjected to a specific hereditary eye disease enrichment panel (HEDEP) designed by us. All likely pathogenic and pathogenic variants in the candidate genes were determined by Sanger sequencing and co-segregation analyses were performed in available family members. Copy number variations (CNVs) detected by HEDEP were further validated by multiplex ligation-dependent probe amplification (MLPA). As PRGR ORF15 was difficult to capture by next generation sequencing (NGS), all the samples were subjected to Sanger sequencing for this region. All sequence changes identified by NGS were classified according to the American College of Medical Gene-tics and Genomics and the Association for Molecular Pathology (ACMG/AMP) variant interpretation guidelines. In this study, only variants identified as pathogenic or likely pathogenic were included, while those variants of uncertain significance, likely benign or benign were not included. RESULTS: In 91 cases with WES, pathogenic or likely pathogenic variants were determined in 30 cases, obtaining a detection rate of 33.00% (30/91); While in 91 cases with HEDEP sequencing, pathogenic or likely pathogenic variants were determined in 51 cases, achieving the diagnostic rate of 56.04% (51/91), and totally, the diagnostic rate was 44.51%. HEDEP had better sequencing coverage and read depth than WES, therefore HEDEP had higher detection rate. In addition, HEDEP could detect CNVs. In this study, we detected disease-causing variants in 29 distinct IRD-associated genes, USH2A, ABCA4 and RPGR were the three most common disease-causing genes, and the frequency of these genes in Chinese IRDs population was 11.54% (21/182), 6.59% (12/182) and 3.85% (7/182), respectively. We found 43 novel variants and 6 cases carried variants in RPGR ORF15. CONCLUSION NGS in conjunction with Sanger sequencing offers a reliable and effective approach for the genetic diagnosis of IRDs, and after evaluating the pros and cons of the two sequencing methods, we conclude that HEDEP should be used as a first-tier test for IRDs patients, WES can be used as a supplementary molecular diagnostic method due to its merit of detecting novel IRD-associated genes if HEDEP or other methods could not detect disease-causing va-riants in reported genes. In addition, our results enriched the mutational spectra of IRDs genes, and our methods paves the way of genetic counselling, family planning and up-coming gene-based therapies for these families.
DNA Copy Number Variations ; Humans ; Mutation ; Pedigree ; Retinal Dystrophies/genetics* ; Whole Exome Sequencing

Objective To prepare novel alkanethiol modified magnetic silver flower nanoparticles as SERS substrate to chloramphenicol for Raman detection and to determine their enhancement effect.Methods An alkanethiol was chosen as a surface modifier of the substrate and was self-assembled onto the magnetic silver flower nanoparticle surface.The chloram-phenicol molecules were enriched to the surface of the substrate by hydrophobic interaction and the effect for detection of chloramphenicol SERS signal was enhanced.Results It was found that the 1-hexanethiol-modified SERS substrate was able to lead to stronger enhancement than 1-dodecanethiol and octadecanethiol.Fe3 O4@SiO2-Ag-C6 was used to detect the chloramphenicol (10 -3 -10 -10 mol/L) and chloramphenicol in milk (10 -3 -10 -9 mol/L) by surface-enhanced Raman spectroscopy.The detection limits were 0.1 nmol/L (32 ppt) and 1 nmol/L (323 ppt) respectively.Conclusion Alkanethiol modified magnetic silver flower nanoparticles are a highly active SERS substrate, which can be used for detection of low concentrations of analytical substances.

Objective To investigate the inhibitory effect of aqueous extract of Taxus chinensis.vat (AETC) combining Cisplatin (DDP) on vitro cultured human lung carcinoma A549 cells,and the effects on resistance genes.Methods The A549 cells were divided into different concentrations of DDP groups,different concentrations of AETC groups,and blank group,and drug effect of 48 h with the method of cell counting kit-8 (CCK-8) and the effect on cell survival were detected.Based on the above results,then A549 cells were divided into DDP combining different concentrations of AETC groups,DDP group,blank control group,and drug effect of 48 h with the method of CCK-8 and the effect on cells survival were detected.The gene expressions of adenosine triphosphate (ATP)-binding cassette subfamily B member 1 trans-porter (ABCB1),ABCG2,and ABCC1 were examined by polymerase chain reaction (RT-PCR).Results Cisplatin 12 μg/ml (DDP),DDP + ATEC 400 μg/ml,DDP + ATEC 800 μg/ml,DDP + ATEC 1 200 μg/ml,DDP + ATEC 1 600 μg/ml,A549 cell inhibition rate of each group was 44.36％,69.61％,74.73％,80.10％,and 74.73％,respectively;Different concentrations of AETC combining DDP could decrease the resistance related gene ABCC1,ABCB1 expressions,and correlated to the dose.AETC combining DDP showed no effects on ABCG2 gene expression.Conclusions AETC combining DDP could inhibit the growth of A549 cells,and decrease the resistance-related gene ABCC1,ABCB1 expressions.

Objective To investigate the technique and clinical results of total hip arthroplasty in treating post-traumatic hip fusion ankylosis secondary to operation in acetabular combined with femoral head fracture.Methods From October 2009 to January 2015,7 patients (7 hips) with post-traumatic hip fusion ankylosis underwent total hip arthroplasty.There were 6 males and 1 female with an average age of 38 years (range,25-51 years).There were 4 hips on the left side,3 hips on the right side.Open reduction and internal fixation were performed on all patients.One patient had a postoperative deep infection and 6 patients underwent implant removal.The hip bony fusion ankylosis was developed secondary to post-traumatic arthritis after the surgery of ipsilateral acetabular combined with femoral head facture.The interval between internal fixation and total hip arthroplasty was 37.6 months on average (range,21-67 months).The hip bony fusion ankylosis was relieved by wedge shape osteotomy at femoral neck level.The cemenfless prostheses were implanted in suitable places based on the accuracy position of acetabular center.One infection case was treated via surgical debridement,removal of all the screws,and antibiotic-loaded cement spacer implantation in the first stage.The cementless prostheses were implanted in the second stage.Results The average operation time and blood loss was 108 min (90-150 min) and 320 ml (280-450 ml) respectively.The internal fixation devices were explanted completely,including plate and screw in 5 cases,only screw in 1 case,intramedullary nail and screw in 1 case.The mean fallow-up period was 32.5 months (range,15-48 months).The average Harris hip score improved from 48.8±6.5 points preoperatively to 92.6±5.1 points post-operatively (t=22.82,P=0.001).Osseointegration was developed in all of the acetabular and femoral components at 3 months post-operatively.Radiograph analysis showed satisfied position of acetabular cup and no evidence of implant migration or center of rotation change.Stem subsidence (＜1.0 mm) occurred in 2 cases and heterotopic ossification in 2 cases (Brooker type Ⅰ and type Ⅱ in 1 case,respectively) at one year postoperatively.No complication occurred,such as damages of vessels and nerve,dislocation,component loosening or infection.Conclusion The wedge shape osteotomy of femoral neck is a safe and reliable method in treating hip fusion ankylosis.Total hip arthroplasty can be achieved by reconstruction of acetabular center,suitable components implanted in anatomical position and ideal reconstruction of soft tissue around hip.

OBJECTIVE:To explore the characteristics and regularities of the adverse drug reactions(ADRs)induced by irino-tecan,in order to provide reference for clinical application. METHODS:In retrospective study,56 cases of irinotecan-induced ADR collected from our hospital during Jun. 2011-Jan.2015 were analyzed statistically in respects of gender,age,disease types, ECOG score,medication,organs/systems involved in ADR,clinical manifestations,outcome,etc. RESULTS:All 56 patients suf-fered from ADR,among which the percentage of hematopoietic system accounted for the highest(100%),and followed by diges-tive system;the grade Ⅰ-Ⅱ ADRs accounted for 87.20%,the grade Ⅲ-Ⅳ ADRs accounted for 12.80%. 64.50% of ADRs oc-curred within 1 week. In respect of conversion,85.71%(48/56)of the patients recovered with supportive care and continued che-motherapy,the remaining 8 cases had to reduce the dose of chemotherapy and then recovered. CONCLUSIONS:With regular dose,irinotecan is well tolerated. Since ADRs induced by irinotecan are slight,all the ADRs are well managed. It is important to enhance follow-up observations of patients to prevent some serious ADRs.

Androstadienes ; therapeutic use ; Antineoplastic Agents, Hormonal ; administration & dosage ; Aromatase Inhibitors ; administration & dosage ; Breast Neoplasms ; drug therapy ; Drug Administration Schedule ; Female ; Humans ; Nitriles ; administration & dosage ; Postmenopause ; Triazoles ; administration & dosage

Antimony ; adverse effects ; Dust ; Humans ; Lung ; pathology ; Male ; Middle Aged ; Occupational Exposure ; adverse effects ; Pneumoconiosis ; diagnosis ; pathology