0.05,there were not significant differences in two groups.In the hypothyroidism group,the characteristics had been improved,such as myxedema、feeling of cold,lowing-sweat、alopeda,The function of thyroid and heart rate had been improved。To compare with matched control,there were significant difference P

Objective To analyze the CYP17 gene of two sisters with combined 17-alpha-hydroxylase/17, 20-lyase deficiency, and that of their parents. Methods Genomic DNA of the four members was prepared from peripheral blood by standard methods. All the eight exons and intron/exon boundaries of CYP17 were PCR amplified and sequenced. All the hormone levels were measured by time-resolved immunofluorometric assay. Results Combined 17-?-hydroxylase/17, 20-lyase deficiency was confirmed by marked hormone change. Sequence analysis revealed that the sisters were homozygous 985delTACinsAA of CYP17, and their parents were heterozygous 985delTACinsAA. Conclusion Novel mutation of 985delTACinsAA in CYP17 was found in two sisters with 17-?-hydroxylase/17, 20-lyase deficiency. The homozygous one can induced the phenotype and the heterozygous one is a genomic marker.

A novel hemizygous frameshift mutation in exon1of DAX-1 gene (993delC) was found in a patient with late-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism.This mutation led the stop codon to appear in advance of 59 amino acids.His mother and two sisters were the carriers of this hemizygous mutation while his father and brother were wild-type.After glucocorticoid hormone replacement therapy, the clinical symptom was improved, but the level of ACTH was not suppressed.

[Summary] The clinical and genetic characteristics of a patient with male pseudohermaphroditism, being considered as an isolated 17, 20-lyase deficiency case, were analyzed. The social gender of the patient aged 30-year-old was female. The patient presented with 46, XY karyotype, unclosed epiphysis, after perineal block resection, hypergonadotropic hypogonadism, while the production of mineralocorticoids and glucocorticoids hormone was intact. A503V heterozygous mutation in exon 13 and a deletion in intron 11 of POR gene were detected. The gene mutations may lead to the occurrence of the isolated 17,20-lyase deficiency.

A case of arginine vasopressin receptor 2 ( AV PR2 ) mutation in a boy with congenital nephrogenic diabetes insipidus was reported.Genomic DNA of the boy and his family members was extracted.The entire coding region of the AVPR2 gene were amplified by PCR.The amplified products were purified and sequenced.The results were compared with the normal one of the gene bank.The impact of the mutation on AVPR2 structure was discussed with respect to homology structure model.The analysis identified a T to G transition in exon 2 of the AVPR2 gene,resulting in substitution of leucine for arginine at amino acid residue 168.Furthermore,the patient′s mother and sister were heterozygous for this mutation,and the father was normol.

[Summary] An analysis of clinical data was performed in 6 patients diagnosed as adefovir dipivoxil (ADV)-induced nephropathy in recent 14 months.The results showed that all of six patients suffered from pain over multiple joints after taking ADV 10-20 mg/d for 2-3 years,along with hypophosphatemia,hypouricemia,and raised osteogenesis index.One case had increased serum creatinine,5 cases had hypokalemia,renal glycosuria,and4 cases had albuminuria.Imageological examination showed osteoporosis,osteomalacia,and pseudo fracture.After discontinuance of ADV treatment,joint pain was obviously relieved within 3-6 weeks,blood uric acid level returned to normal within 1-2.5 months,and renal glycosuria and albuminuria disappeared by 1-2 months.The results suggest that after taking ADV for more than two years,attention should be paid to the nephropathy induced by ADV and regular monitoring of renal function,blood electrolyte,and urine should be mandatory.Hypouricemia is a reliable index of diagnosis and treatment in this event.

Objective To evaluate the efficacy of continuous positive airway pressure (CPAP)-based standard treatment on obstructive sleep apnea-hypopnea syndrome (OSAHS) patients with type 2 diabetes and insulin resistance (IR) in the elderly.Methods 63 elderly type 2 diabetes patients diagnosed as OSAHS were randomly divided into control group (n =31) and CPAP group (n =32).Patients in control group were treated with conventional therapy including diet control,exercise and antidiabetic drugs,and patients in CPAP group were treated with CPAP treatment combined with conventional therapy.Fasting glucose (FBG),oral glucose tolerance test (OGTT),homeostasis model assessment of IR index (HOMA-IR),body mass index (BMI),apnea-hypopnea index (AHI),lowest oxygen saturation (L-SaO2) and the dosage of insulin application were observed after 7 days,1 month,3 months of the treatment.Glycosylated hemoglobin (HbA1c) was determined before and after 3 months of the treatment.Results In CPAP group,levels of FBG and 2 h OGTT glucose,HOMA-IR,AHI,daily insulin dosage were significantly reduced and L-SaO2 was significantly increased after 7 days of the treatment; BMI was significantly reduced after 1 month of the treatment;HbA1c level was significantly reduced after 3 months of the treatment.In control group,L-SaO2 was significantly reduced along with the multiple time points; daily insulin dosage was significantly increased after 3 months of the treatment.There were no significant differences in all observed indicators between groups before treatment.There were significant differences in the observed indicators between groups after treatment except for BMI after 7 days of the treatment.Conclusions Compared with conventional therapy,CPAP-based standard treatment has more efficacy on increasing insulin sensitivity and improving insulin resistance in elderly patients with OSAHS and type 2 diabetes.

A harmonious relationship between doctors and patients is an important aspect of the socialist harmonious society. The key of harmonious relationship is to perform effective humanistic caring for patients, to change the service model, to perfect the attitude of service; the patients should seek scientific medical help and adopt a rational attitude towards possible medical accidents. Thus the kind of concordant ambience will come into being in medical treatment.

Objective To investigate the antimicrobial resistance and genotype distribution of staphylococcal cassette chromosome mec (SCCmec) of staphylococcus aureus (S.aureus) isolated from children hospitalized at Pediatric People's Hospital of Zhongjiang County.Methods Seventy-seven strains of S.aureus were collected by nasopharyngeal swabs at the Pediatric Department of People's Hospital of Zhongjiang County from January to December 2015.Methicillin-resistant staphylococcus aureus (MRSA) and methicillin-susceptible staphylococcus aureus (MSSA) were identified by cefoxitin disc diffusion and detection of mecA method.The minimum inhibitory concentrations (MIC) of antibiotics were determined by E-test method.SCCmec typing on MRSA strains was performed by using multiplex PCR.Results MRSA accounted for 54.5％ (42 strains) strains of 77 strains.All MRSA strains were resistant to Penicillin,and the rates of antibiotic resistance to Cefuroxime,Ceftriaxone,Erythromycin were 78.6％,95.2％ and 97.6％,respectively.The rates of antibiotic resistance of 35 MSSA to Penicillin and Erythromycin were 97.1％ and 62.9％,and they were also sensitive to other antibiotics.In 42 strains of MRSA,SCCmec type Ⅳa was the predominant type (27 strains,64.3 ％),which was followed by type Ⅳ g and Ⅴ (each 5 strains,11.9％),type Ⅳ c and Ⅳh (each 1strain,2.4％).Non-susceptibility rate of SCCmec Ⅳ to cefuroxime was significantly higher than that of other SCCmec types (P ＜ 0.05).Conclusions All strains from children hospitalized in People's Hospital of Zhongjiang County are often resistant to Penicillin and Erythromycin.The proportion of MRSA isolated from hospitalized children was high.SCCmec type Ⅳa is the main genotype of MRSA.