Objective To report the clinical features and inwardly rectifying potassium channel 18 (KCNJ18) gene mutation in a group of patients with thyrotoxic periodic paralysis (TTP).Methods Fiftyseven TTP cases (55 male and 2 female) were collected in our clinic from July 2002 to October 2011.The KCNJ18 gene was directly sequenced in 57 TTP patients and 50 health Chinese controls through the nested PCR.According to the results of gene screening,the clinical features of KCNJ18 patients and non-KCNJ18 patients were retrospectively summarized and analyzed.Results In 4 male patients with TPP,we found 3 novel heterogeneous mutations (p.Q126X,p.K360T,p.E388K) and 1 reported mutation (p.A200P) in the KCNJ18 gene.The age of onset was 19-25 years old,and the duration ranged from 2 to 8 hours.The 4 patients all presented severe muscle weakness.The attacks of muscle weakness preceded overt symptoms of hyperthyroidism in the 4 patients. Three patients showed recurrent weakness during the 13-28 months follow-up,while the episodic weakness never appeared when patients got euthyroid. Conclusions The mutations in the KCNJ18 gene are responsible for a part of Chinese patients with TPP.The patients with KCNJ18 mutations have a shorter disease course,severer manifestation,and higher prevalence of recurrence as compared with those TPP patients without KCNJ18 mutations.

Objective To explore and analyze the pathogen proifle and risk factors of infected diabetic foot ulcers, and propose appropriate prevention and intervention measures for early recovery of patients.Methods The data of 120 patients with diabetic foot ulcers treated in our hospital from February 2012 to May 2014 were retrospectively analyzed. These patients were classified into infection group (38 patients) and non-infection group (82 patients) based on whether their ulcer was infected or not. The pathogens and risk factors of infection in diabetic foot ulcer were analyzed.Results In this study, 43 strains of pathogenic bacteria were isolated from 38 cases of infection, of which gram positive bacteria accounted for 51.2 %, gram negative bacteria 41.9 %, and fungi 7.0 %.Staphylococcus aureus,Pseudomonas aeruginosa and Enterobacter cloacae were the top three pathogens, accounting for 16.3 % each. Univariate analysis showed that diabetic vascular complication, retinopathy, more than 2 foci of ulcer, osteomyelitis, and diabetic nephropathy were closely associated with infection (P<0.05). Multivariate logistic regression analysis showed that HDL-C, albumin, diabetic vascular complication, number of ulcers, osteomyelitis were independent risk factors for infection in patients with diabetic foot ulcer. Conclusions HDL-C, red blood cell, hemoglobin, diabetic complications, white blood cell, triglyceride, albumin, diabetic vascular complication and smoking are the risk factors for infection in patients with diabetic foot ulcer. These factors should be prevented and controlled to reduce the incidence of infection in diabetic foot ulcer.

OBJECTIVETo detect the expression of hypoxia-inducible factor-1alpha(HIF-1alpha) in endometriosis and explore the possible role of HIF-1alpha in the pathogenesis of endometriosis.

METHODSImmunohistochemistry was performed to examine the expression of HIF-1alpha in 20 normal endometrium, 20 ectopic endometrium and 68 eutopic endometrium specimens from 68 endometriosis patients, and the results were analyzed statistically.

RESULTSThe expression of HIF-1alpha was significantly increased in ectopic endometrium than in normal endometrium (P<0.01), and the expression did not undergo changes with the normal menstrual cycle in the three types of endometrium.

CONCLUSIONHIF-1alpha expression increases in ectopic endometrium, suggesting that HIF-1alpha plays an important role in the pathogenesis of endometriosis.

Adult ; Endometriosis ; genetics ; Endometrium ; metabolism ; Female ; Humans ; Hypoxia-Inducible Factor 1, alpha Subunit ; genetics ; metabolism ; Menstrual Cycle ; metabolism