Objective:To explore the association between the CYP21A2 genotype and the virilization severity in girls with classic 21-hydroxylase deficiency (21-OHD), so as to further the understanding of virilization in females and provide guidance for prenatal diagnosis and genetic counseling. Methods:A total of 23 patients with two X chromosomes (46, XX) who were newly diagnosed with classic 21-OHD in Wuhan Children′s Hospital from August 2010 to March 2019 were included.These patients were divided into 3 groups according to the Prader grades of the degree of external genitalia masculinization.The 17-hydroxyprogesterone (17-OHP) level, androstenedione (AND) level, testosterone (T) level, dehydroepiandrosterone sulphate (DHEAS) level and genotypes were recorded.The gene mutations were divided into the Null group(the enzyme activity was completely impaired), group A(1% of the normal enzyme activity was retained), group B(2% of the normal enzyme activity was retained) and group C(20%-60% of the normal enzyme activity was retained). The correlation between the gene variation of different Prader grades and the corresponding gene groups were analyzed.Results:All 23 girls showed different degrees of external genitalia masculi-nization.There was a significant positive correlation between the Prader grades and the type of gene variation ( rs=0.696, P<0.001). The gene group A and Null group were highly matched with the Prader Ⅳ(the matching rate: 77.8%). Eighty percent of girls with Prader Ⅱ and Prader Ⅲ were classified as the gene group B. The testosterone le-vel of girls with Prader Ⅳ at first diagnosis was significantly higher than that of girls with Prader Ⅱ [4.6(4.0, 15.0)μg/L vs.0.63(0.40, 1.39)μg/L]( χ2=15.117, P<0.05). Conclusions:There is a significantly positive and strong correlation between the degree of external genitalia masculinization and the degree of deficiency of enzyme activity caused by gene variation in girls with typical 21-OHD.It can provide reference for both parents carrying CYP21A2 gene in prenatal diagnosis, genetic counseling and individualized diagnosis and treatment.

As social views on disability changed,how to support intellectual disabled adult so they can be involved in ordinary social life is not only the hot topic of special education and rehabilitation service system,but also the concern of psychologists.For the improvement of social inclusion,psychologists should provide assessment,intervention and support for intellectual disabled adults at personal and social supportive levels,and relative policy advices for the government should be included.

Objective To investigate the potential factors which have impact on the working space for surgeons in gasless laparoscopic cholecystectomy and to probe into the specifications of gasless surgeries.Methods Clinical data of 49 cases of gasless laparoscopic cholecystectomy between March 2007 and July 2010 were summarized.The impacts of body mass index,bowel preparation and means of anesthesia on operation time and conversion to laparotomy were analyzed.Results For patients with body mass index ≤25and ＞ 25,operation times were (43.0 ± 5.4) min,and (52.8 ± 7.4 ) min,respectively,and rates of conversion to laparotomy were 0/34 and 4/15,respectively.Both indices in the first group were higher.For patients with and without bowel preparation,operation times were (44.5 ± 5.4) min and (46.1 ± 8.0)min,respectively,and rates of conversion to laparotomy were 2/26 and 2/23,respectively.For patients with epidural anesthesia and lumbar/epidural anesthesia,operation times were (46.5 ± 7.9) min and (44.1 ±6.8) min,respectively,and rates of conversion to laparotomy were 2/24 and 2/25,respectively.Conclusions The operation time of gasless laparoscopic cholecystectomy could be affected by many factors,such as body mass index.Gasless operations can be improved by evaluating the conditions of patients correctly and by selecting suitable operation methods,anesthesia means and bowel preparation.

Objective To explore the value of energy spectrum CT in the diagnosis of breast cancer.Methods Thirty-two hospitalized patients whose American Colledge of Radiology (ACR) breast imaging reporting and data system (BI-RADS) scores were 4-5 by mammography received non-enhanced spectral CT scans.The spectrum images,spectrum curve,lesion's size,morphology were observed,and also the pectoralis major muscle and axillary lymph node metastasis were evaluated and compared with mammography.Results Thirty-two patients were confirmed by pathology,including 16 cases of invasive duct carcinomas,1 case of medullary carcinoma,15 cases of lobular carcinomas,and 11 cases of the pectoralis major muscle invaded,9 cases of the axillary lymph nodes metastasis.ACR BI-RADS scores 4 were 23 cases,5 were 9 cases.Axillary lymph node metastasis and primary tumor spectrum curves were basically the same.Energy spectrum CT showed the lesion's shape,size,the relationship with the pectoralis major muscle and axillary lymph node metastasis.In 40-70 keV spectrum curve breast cancer displayed a downward trend.There were no significant differences between energy spectrum CT and mammography for the lesion's shape,edge,internal calcification and thickening of adjacent skin (P ＞ 0.05).While energy spectrum CT exhibited obvious advantages in demonstrating the pectoralis major muscle invaded and axillary lymph node metastasis (P ＜ 0.05).Conclusion Energy spectrum CT imaging displays greater clinical value for diagnosing breast cancer,and it can provide multi-parameter image for supporting clinical practice.

Objective To explore the clinical features and gene mutations of blepharophimosis-ptosis-intellectual-disability syndrome (BPID). Methods The clinical data, diagnosis and treatment of a child with BPID in neonatal intensive care unit (NICU) were reviewed. Based on the literature retrieved from PubMed database, the common classification, clinical features, diagnosis and genetic counseling of BPID and its affiliated blepharophimosis-mental retardation syndromes (BMR) were reviewed. Results This male infant was 39 weeks of gestational age with birth weight of 1920 g, and was admitted to NICU 15 min after birth due to dyspnea. The main clinical manifestations were facial deformity such as biepharophimosis, ptosis and micromandible, inspiratory dyspnea with laryngeal cartilage softening, malformations of the thorax and feeding difficulties. A heterozygous mutation in UBE3B gene was identified by complete exon sequencing and he was diagnosed of BPID, a rare genetic disorder. Reviewing the literature, there was no relevant report in domestic. While one foreign literature was found to report 5 patients from 4 families having a subtype of BMR, a kind of autosomal recessive diseases caused by mutations in the UBE3B gene. Conclusion BPID is a rare clinical entity of BMR. Complete exon sequencing can be used to diagnose the disease.

This study was aimed to provide a reference for the development, registration, and clinical use of hospital traditional Chinese medicine (TCM) preparations, in order to analyze and assess their safety and risk. It also provided a reference for the technical review and supervision of hospital TCM preparations. Through collecting review materials of hospital TCM preparations from 2012 to 2014 in the Sichuan Food and Drug Administration, 21 preparations developed by clinical experiences were screened out. Analysis was made on their ingredients, preparation process and acute toxicity data. The results showed that 98 kinds of Chinese herbal medicines were contained in 21 preparations. The dosages of herbs were in compliance with theChina Pharmacopoeia2010 Edition. Preparation processes of 16 preparations were made by water extraction, grinding and other traditional techniques. The preparation processes of the remaining 5 preparations were involved with alcohol extraction or alcohol precipitation. Acute toxicity test data were obtained with experimental data in mice. Clinical usages of preparation were much lower than MTD or LD50. It was concluded that these hospital TCM preparations developed by clinical experiences were with high safety.

Objective By 1 H magnetic resonance spectroscopy( 1 H MRS) ,small for gestational age (SGA)and appropriate for gestational age(AGA) as the detection of brain metabolites and MRI plus soft-ware measurement in different brain areas of volume,investigate its cerebral metabolites and the changes of brain in different parts of the volume and significance. Methods Select 88 patients eligible infants, SGA group of 27 cases and AGA group of 21 cases of premature infants;SGA group of 22 cases and AGA group of 18 cases of term infants. Preterm infants with a gestational age of 32 to 36 weeks,term infants with a gesta-tional age of 37 to 41 weeks. Check time between 4 to 7 days old. Calculation of cerebrum volume,cerebellar volume and cerebrospinal fluid volume and intracranial volume,N-acetylaspartic acid(NAA),as 1H MRS area of metabolites measured right frontal choline compounds( Cho) and creatine compounds( Cr) wave,calcu-lation of Cho/Cr and NAA/Cho ratio of NAA/Cr. Results NAA/Cr,the cerebrum volume and intracranial volume of SGA in premature infants group,term infants group and mixed group were 0. 627 ± 0. 183,(2. 831 ±0. 199) ×105 mm3,(3. 178 ±0. 209) ×105 mm3;0. 706 ±0. 139,(3. 056 ±0. 217) ×105 mm3,(3. 411 ± 0. 212 ×105 mm3;0. 708 ± 0. 171,(2. 932 ± 0. 234) × 105 mm3,(3. 282 ± 0. 239) × 105 mm3,respective-ly. NAA/Cr,the cerebrum volume and intracranial volume of AGA in premature infants group,term infants group and mixed group were 0. 734 ± 0. 101,(2. 987 ± 0. 111) × 105 mm3,(3. 347 ± 0. 137) × 105 mm3;0. 805 ± 0. 106, ( 3. 228 ± 0. 284 ) × 105 mm3 , ( 3. 588 ± 0. 306 ) × 105 mm3; 0. 721 ± 0. 119, ( 3. 098 ± 0.240) ×105 mm3,(3.458 ±0.258) ×105 mm3,respectively. The data of SGA group were all lower than those in AGA group,which had significant difference(P<0. 05,respectively). In SGA group,NAA/Cr,the cerebrum volume and intracranial volume of premature infants group were all lower than those in term infants group,which had significant difference(P<0. 001,respectively). In SGA group,Cho/Cr,cerebellar volume and cerebrospinal fluid volume of premature infants group,term infants group and mixed group were[1. 653 ± 0. 343,(1. 816 ± 0. 119) × 104 mm3 ,(1. 651 ± 0. 235) × 104 mm3;1. 588 ± 0. 223,(1. 936 ± 0. 957) × 104 mm3,(1. 623 ± 0. 210) × 104 mm3; 1. 612 ± 0. 262,(1. 870 ± 0. 124) × 104 mm3,(1. 649 ± 0. 206) × 104 mm3 ,respectively. In AGA group, Cho/Cr, cerebellar volume and cerebrospinal fluid volume of premature infants group,term infants group and mixed group were 1. 531 ± 0. 226,(1. 872 ± 0. 159) × 104 mm3 ,(1. 731 ±0.280) ×104 mm3;1.528 ±0.107,(2.017 ±0.302) ×104 mm3,(1.648 ±0.169) ×104 mm3;1.583 ± 0.222,(1.939±0.244)×104mm3,(1.681±0.252)×104mm3,respectively.ThedataofSGAgrouphad no significant difference with corresponding AGA group(P >0. 05,respectively). In the premature infants groups,the NAA/Cho of SGA group(0. 401 ± 0. 737) was lower than in the AGA group(0. 506 ± 0. 116), which had significant difference(P=0. 000). In the term infants groups,the NAA/Cho of SGA group(0. 483 ±0. 605) was lower than in the AGA group(0. 472 ± 0. 987),which had no significant difference(P =0. 653). In the AGA groups,NAA/Cr,NAA/Cho,cerebellar volume and cerebrospinal fluid volume of pre-mature infants group and term infants group had no significant difference ( P>0. 05 ) . Both of the cerebellar volume and cerebrospinal fluid volume between the premature infants AGA group and premature infants AGA group had no significant difference(P>0. 05). Conclusion Neurons in the brain,the cerebrum volume,the cranial cavity volume and NAA/Cr of SGA was significantly lower than those of AGA,but Cho/Cr,cerebel-lar volume and cerebrospinal fluid volume of SGA and AGA had no significant difference. NAA/Cr in the brain and the cerebrum volume of SGA may be associated with low volume of small nerve mental retarda-tion,worthy of further study.

Objective:To investigate the expression of Galectin-7 in the bronchial mucosa of asthmatic children and its effect on the apoptosis of bronchial epithelial cells.Methods:Bronchial mucosa of asthmatic children and children with bronchial dilation were collected and the expression of Galectin-7 was detected by Western blot.Human bronchial epithelial cells were cultured in vitro,the cells were transfected with Galectin-7 siRNA to interfere the Galectin-7 expression,while siRNA control was transfected as the control group.The experiment was divided into normal group,control group,infected group and experimental group.The normal group was normal human bronchial epithelial cells,the cells in the control group was transfected with siRNA control,the infected group was infected with RSV,the experimental group was transfected with Galectin-7 siRNA and infected with RSV.After 24h culture,Galectin-7 protein expression and cell apoptosis were detected in the cells of each group.Western blot was used to detected the expression of Bcl-2,Bax,STAT3 and p-STAT3.Results:The expression of Galectin-7 in bronchial mucosa of asthmatic children was significantly higher than that of the non asthmatic children (P＜0.01).There was no significant difference in the Galectin-7 level between the normal group and the control group (P＞0.05).The levels of Galectin-7,Bax and apoptosis in the infected group were significantly higher than those in the normal group,while the levels ofp-STAT3 and Bcl-2 were significantly lower than those in the normal group (P＜0.01).The levels of Galectin-7,Bax and apoptosis in the experimental group were significantly lower than those in the infected group,while the levels of p-STAT3 and Bcl-2 were significantly higher than those in the infected group (P＜0.01).Conelusions:The expression of Galectin-7 was up-regulated in the bronchial mucosa of asthmatic children,which might promote the apoptosis of bronchial epithelial cells by activating STAT3.

Objective To investigate the clinical efficacy of biological amniotic membrane for otoscpic repair of traumatic perforation of tympanic membrane. Methods Otoscpic repair was performed on the patients with tympanic membrane perforation which was not healed for 6 months. The efficacy was observed postoperatively. Results The success rate of the procedure was 97.37%, except that one patient was not healing by first intention due to wound infection. Conclusions Biological amniotic membrane is definitely efficacious in the surgical repair of perforation of tympanic membrane. Otoscpic sugical repair is less invassive and has a higher success rate.

Objective To investigate the distribution and antibiotic resistance of the pathogens isolated from blood of the inpatients in hematology ward.Methods Antimicrobial susceptibility test was carried out using Kirby-Bauer method.The data were analyzed by WHONET 5.6 software.Results Of the 521 microbial isolates collected,gram-negative bacilli accounted for 47.2％,grampositive cocci 45.7％ and fungi (7.1％).The most frequently isolated microorganisms were coagulase negative Staphylococcus (154),E.coli (88),K.pneumoniae (51),P.aeruginosa (39) and Enterococcus spp (34).ESBLs were produced in about 40.4％ of the K.pneumoniae isolates and 63.4％ of the E.coli isolates.At least 90％ of the E.coli isolates were susceptible to imipenem and meropenem,and at least 70％ susceptible to piperacillin-tazobactam.At least 85％ of the K.pneumoniae strains were susceptible to imipenem and meropenem,and at least 70％ susceptible to levofloxacin,piperacillin-tazobactam and cefoperazone-sulbactam.The percentage of the P.aeruginosa susceptible to ciprofloxacin and tobramycin was at least 90％,and higher than 70％ to levofloxacin,meropenem,imipenem,piperacillin-tazobactam,cefepime,and cefoperazone-sulbactam.More than 90％ strains of the coagulase negative Staphylococcus and Enterococcus were susceptible to linezolid and teicoplanin.Overall,82.5％ of the coagulase negative Staphylococcus isolates were resistant to methicillin.Three E.coli isolates and 4 K.pneumoniae isolates were found resistant to carbapenems,and 14 Enterococcus isolates were resistant to vancomycin.Conclusions Gram-negative bacilli are the major pathogens from blood samples in hematology ward,which show high susceptibility to piperacillin-tazobactam and cefoperazone-sulbactam,imipenem and meropenem.The grampositive cocci show high susceptibility to linezolid and teicoplanin.These data are helpful for empirical antimicrobial therapy.