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

Apoptosis ; Inhibitor of Apoptosis Proteins ; Myocytes, Cardiac ; cytology

Antibodies, Monoclonal ; administration & dosage ; Antibodies, Monoclonal, Humanized ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Breast Neoplasms ; drug therapy ; metabolism ; Drug Administration Schedule ; Female ; Humans ; Neoadjuvant Therapy ; Paclitaxel ; administration & dosage ; Receptor, ErbB-2 ; metabolism ; Trastuzumab

Bacterial Infections ; drug therapy ; Child ; Drug Resistance, Bacterial ; Humans ; Microbial Sensitivity Tests ; beta-Lactamases ; biosynthesis

Adolescent ; Body Height ; Body Weight ; Child ; Female ; Growth and Development ; Humans ; Male ; Papilloma ; surgery ; Thyroid Neoplasms ; surgery ; Thyroidectomy ; adverse effects

Objective: To search for a best method for management mandible fractures by evaluating the effects of different treatments.Methods: We retrospectively analyzed 148 cases of mandible fractures treated in our department from January 1996 to June 2007.Results: Among the total number,134 cases were restored to normal occlusion,while 6 cases experienced local occlusive disfunction and 8 malocclusion.The effect of treatment was correlated with the types of fracture and methods of diaplasis.Conclusion: Mandible fractures should be treated with a new concept of combined and sequential multidisciplinary methods.Sound diaplasis followed by reliable fixation can produce a satisfying curative effect.At present,intermaxillary elastic traction with internal titanium plate fixation is the most effective method for the management of mandible fractures.

Objective To assess the clinical diagnosis value and treatment effect of anti-Müllerian hormone(AMH)and inhibin B(INHB)in polycystic ovary syndrome(PCOS)patients.Methods Total of 300 cases of PCOS patients were enrolled in this study from January 2014 to January 2016 in the First Affiliated Hospital,Hunan University of Chinese Medicine,and those patients were randomly divided into group A,group B and group C.There were 100 patients in every group.The patients in group A were interfered by traditional Chinese medicine.The patients in group B were treated with Western medicine and those in group C were treated with traditional Chinese medicine combined with western medicine.Total of 264 cases health volunteers were enrolled as the control group.The effect was evaluated.The level of AMH and INHB in serum of PCOS patients were detected by chemiluminescent assay before treatment and three months after treatment.Results The cutoffs of AMH and INHB were 6.98 ng/ml and 150 pg/ml,respectively.The AUC of AMH combined with INHB was significantly larger than that of AMH or INHB(0.945 vs.0.859,0.945 vs.0.784).In the PCOS group,the positive PCOS rate of AMH combined with INHB was significantly larger than that of AMH or INHB[87.00％(261/300)vs.83.33％(250/300)vs.93.67％(281/300),x2=15.593,P=0.000].The sensitivity[93.67％(281/300)],specificity[92.42％(244/264)],positive predictive value[93.36％(281/288)],negative predictive value[92.78％(244/264)]and Jordanian index(0.659)of AMH combined with INHB was significantly larger than that of AMH[87.00％(261/300),87.88％(232/264),89.08％(261/293),85.61％(232/271)and 0.612]or INHB[83.33％(250/300),90.15％(238/264),90.58％(250/276),82.64％(238/301)and 0.571].After treatment,AMH[(9.06±2.13)ng/ml vs.(6.34±1.12)ng/ml,t=10.595,P=0.000;(9.08±2.08)ng/ml vs.(6.02±1.02)ng/ml,t=13.209,P=0.000;(9.13±2.31)ng/ml vs.(3.53±0.83)ng/ml,t=22.814,P=0.000]and INHB[(173.13±14.22)pg/ml vs.(145.26±13.05)pg/ml,t=14.440,P=0.000;(174.28±13.82)pg/ml vs.(145.39±12.98)pg/ml,t=15.238,P=0.000;(174.98±13.77)pg/ml vs.(133.15±12.04)pg/ml,t=22.869,P=0.000]in 3 groups had decreased.After treatment,the AMH of group C [(3.53±0.83)ng/ml] was significantly lower than that of group A and B[(6.34±1.12)ng/ml and(6.02±1.02)ng/ml,F=237.936,P=0.000],and the level of AMH in group C [(133.15±12.04)pg/ml] was significantly lower than that in both group A and group B[(145.26±13.05)pg/ml and(145.39±12.98)pg/ml,F=30.645,P=0.000].Conclusions AMH combined with INHB can be used to diagnose PCOS.AMH and INHB can be used to evaluate PCOS efficacy.