Objective To study the diagnostic significance and clinical value of genetic analysis in children with neonatal diabetes. Methods Gene mutation analysis was performed in four patients from Zhengzhou children ' s hospital with diagnosis of with neonatal diabetes. Therapeutic effect of glibenclamide in patients with or without gene mutation was compared. Results KCNJ11 gene mutation was found in two patients with neonatal diabetes. Glibenclamide was found only effective for blood glucose control in patients with KCNJ11 mutation. Therefore, Insulin remains the best therapeutic choice in patients without the genetic mutation. Conclusions Genetic mutation status may be useful in choosing treatment options of neonatal diabetic patients, therefore, should be performed in all children with neonatal diabetes.

OBJECTIVETo assess the efficacy of tendons of minimally invasive therapy (TMIT) combined drug therapy by comparing it with treatment by drug therapy alone on patients with knee osteoarthritis (KOA).

METHODSTotally 60 KOA patients were assigned to the treatment group and the control group according to random digit table, 30 in each group. Patients in the control group took Hydrochloric Acid Glucosamine Capsule and Celecoxib Capsule. Patients in the treatment group additionally received TMIT. The treatment course for all was 4 weeks. Scores for visual analogue scale (VAS) and the Western Ontario and McMaster Universities (WOMAC) Osteoarthritis Index were observed and recorded at week 1 and 4 after treatment by acupotomology mirror.

RESULTSCompared with before treatment, improvement was shown in VAS score, pain and stiffness degrees, activities and functions, and WOMAC scores at week 1 and 4 after treatment in all patients with statistical difference (P < 0.05). Besides, better effect was shown in the treatment group (P < 0.05).

CONCLUSIONSTMIT combined drug therapy could relieve KOA patients' pain, stiffness and joint activities, elevate the overall efficacy. TMIT was easily operated with less injury.

Celecoxib ; Drug Therapy, Combination ; methods ; Humans ; Knee Joint ; Osteoarthritis, Knee ; drug therapy ; Pain ; Pain Measurement ; Tendons ; Treatment Outcome

Biliary tract diseases have always been one of the important indications for liver transplantation. These biliary tract diseases include congenital atresia of biliary duct, biliary diseases with tendency of malignant transformation, malignant biliary diseases, primary biliary cirrhosis, and secondary biliary cirrhosis. The right time to consider liver transplantation for the above biliary diseases includes situations when transplantation is the only approach to treat the disease, the only effective approach to treat the disease, or one of the effective approaches to treat the disease. Currently there is still no commonly accepted pre-operative evaluation standard for biliary disease-related liver transplantation. However, it is important to obey the following principles. First, the diagnosis should be confirmed; secondary, the necessity or urgency of the liver transplantation should be clarified; and third, the patient and his/her family should understand the whole procedure of transplantation the risk and advantage of the surgery, and the potential life-long intake of immunosuppressors. This article will briefly review all these relavant issues based on the authors' personal experience and clinical cases.
Biliary Atresia ; surgery ; Biliary Tract Diseases ; surgery ; Humans ; Liver Cirrhosis, Biliary ; surgery ; Liver Transplantation ; Living Donors

Objective To construct a prokaryotic expression vector pET-22b+with Middle East respiratory syndrome ( MERS) coronavirus nuclocapsid protein( NP) gene and to express and purify N protein.Methods N gene amplified by PCR was inserted into the prokaryotic expression vector pET-22b+.Recombinant plasmid was confirmed using DNA elec-trophoresis and sequencing.NP was expressed in E.coli BL21(DE3) by IPTG induced and purified by cation exchange chromatography using the AKTA purification system.Results The NP gene sequence was proved to be correct by sequen-cing and the protein was expressed in both soluble and insoluble forms in E.coli BL21 ( DE3 ) after IPTG induction.The purity and concentration of recombinant protein was improved obviously by cation exchange chromatography and enrich-ment.Conclusion Recombiant NP of high purity and concentration is purified and will facilitate NP functional research.

This study was aimed to investigate the genetic characteristics, identification method and transfusion strategy of rare blood type B(A). The rare blood group B(A) was typed by serological technique, PCR-SSP genotyping and sequencing of exon 6, 7 of ABO blood group. The genetic characteristics and molecular mechanism of B(A) blood group were also analyzed. Blood group compatibility test was conducted between blood donors of B(A) and recipients by clinical transfusion. The results showed that both forward and reverse grouping did not match the 3 cases of serological result in their family survey, while all of the 3 cases were grouped as AB blood group by forward grouping, B blood group by reverse grouping with serological result and B(A)04/001 group were genotyped by ABO genotyping. The patient of B blood group was transfused by 1 bag of washed red blood cells of donor of B(A) under closely monitoring, the patient's condition changed, and a mild adverse transfusion reaction was appeared. Washed red blood cell of O blood group was transfused into B(A) patient without blood transfusion reaction. It is concluded that the forward ABO serological grouping and reverse ABO serological grouping are not compatible, that may be verified by family survey and molecular biological methods. If in some cases transfusion therapy was applied, and group B(A) can not be transfused to the patient with group B or AB. Thus, transfusion compatibility or autologous transfusion can be adopted to transfuse to the patient from group B(A).
ABO Blood-Group System ; genetics ; immunology ; Adult ; Base Sequence ; Blood Grouping and Crossmatching ; Genotype ; Humans ; Male ; Transfusion Reaction

OBJECTIVE: To create an instrument to determine the mental prisoners' competency to serve a sentence, which is according with the Chinese legal system. METHODS: Integrating the Chinese criminal jurisprudence and the authors' forensic psychiatric experience, the research team created an instrument which called Competency to serve a sentence Rating scale firstly, then used the instrument retrospectively, in the end the validity and reliability of the instrument were inspected and, through an diagnostic test, the feasibility of the instrument was evaluated. RESULTS: Homogeneity reliability of the instrument is 0.8779, the correspondence of the conclusion between the instrument and the expertise is 0.909, except the positive likelihood ratio is 0.0683, the other diagnostic index are better. CONCLUSION The Competency to serve a sentence Rating Scale is feasible.
Adult ; Expert Testimony ; Female ; Forensic Psychiatry ; Humans ; Male ; Mental Competency ; Mental Disorders/psychology* ; Mentally Ill Persons/psychology* ; Prisoners/psychology* ; Psychiatric Status Rating Scales ; Retrospective Studies ; Surveys and Questionnaires ; Young Adult

Background: Coracoacromial ligament transfer is the traditional procedure for treating chronic acromioclavicular separation, but it is significantly inferior to ligament reconstruction according to biomechanical and clinical studies. However, ligament reconstruction carries the risk of complications of graft loosening and peri-tunnel fractures. Currently, there is no ligament reconstruction procedure optimal for preventing such complications. The purpose of this study was to describe and retrospectively analyze the clinical and radiological outcomes of a “duo-figure-8” autogenic graft wrapping technique, which was used to concomitantly reconstruct the acromioclavicular and coracoclavicular ligaments. Methods: Preoperative, immediate postoperative, and final follow-up oputcomes were evaluated in 10 enrolled patients. Radiographic outcomes were indicated by the bilateral difference of the coracoclavicular distance (CCD) and overlapping length of the acromioclavicular joint (OLac). Quality of reduction was classified into 4 grades according to bilateral CCD difference into overreduction (< 0 mm), anatomic reduction (0–4 mm), partial loss of reduction (4–8 mm), and recurrent dislocation (> 8 mm). Clinical outcomes were evaluated using the American Shoulder and Elbow Surgeons (ASES) and Constant scores. Results: The mean side-to-side differences for CCD were 11.9 mm (preoperative), −0.1 mm (immediate postoperative), and 3.4 mm (final follow-up); those for OLac were 9.4 mm (preoperative) and 2.7 mm (final follow-up). CCD and OLac outcomes significantly improved at final follow-up (p < 0.05). At the immediate postoperative stage, 6 and 4 patients had overreduction and anatomic reduction, respectively. At final follow-up, 7 and 3 patients had anatomic reduction and partial loss of reduction, respectively. The magnitude of improvement of ASES scores for patients with anatomic reduction and partial loss of reduction (p = 0.20) was 18.1 and 20.0, respectively. The magnitude of improvement of Constant scores in patients with anatomic reduction and partial loss of reduction (p = 0.25) was 19.9 and 22.3, respectively. Conclusions The technique yielded acceptable functional outcomes in patients with anatomic reduction or partial loss of reduction. The “duo-figure-8” wrapping method—a single autogenic tendon graft passing beneath the coracoid process with a tendonknot fixation over the distal clavicle and looping around the acromion intramedullary—did not increase the risk of peri-tunnel fractures over the clavicle, coracoid process, or acromion.

Background: Coracoacromial ligament transfer is the traditional procedure for treating chronic acromioclavicular separation, but it is significantly inferior to ligament reconstruction according to biomechanical and clinical studies. However, ligament reconstruction carries the risk of complications of graft loosening and peri-tunnel fractures. Currently, there is no ligament reconstruction procedure optimal for preventing such complications. The purpose of this study was to describe and retrospectively analyze the clinical and radiological outcomes of a “duo-figure-8” autogenic graft wrapping technique, which was used to concomitantly reconstruct the acromioclavicular and coracoclavicular ligaments. Methods: Preoperative, immediate postoperative, and final follow-up oputcomes were evaluated in 10 enrolled patients. Radiographic outcomes were indicated by the bilateral difference of the coracoclavicular distance (CCD) and overlapping length of the acromioclavicular joint (OLac). Quality of reduction was classified into 4 grades according to bilateral CCD difference into overreduction (< 0 mm), anatomic reduction (0–4 mm), partial loss of reduction (4–8 mm), and recurrent dislocation (> 8 mm). Clinical outcomes were evaluated using the American Shoulder and Elbow Surgeons (ASES) and Constant scores. Results: The mean side-to-side differences for CCD were 11.9 mm (preoperative), −0.1 mm (immediate postoperative), and 3.4 mm (final follow-up); those for OLac were 9.4 mm (preoperative) and 2.7 mm (final follow-up). CCD and OLac outcomes significantly improved at final follow-up (p < 0.05). At the immediate postoperative stage, 6 and 4 patients had overreduction and anatomic reduction, respectively. At final follow-up, 7 and 3 patients had anatomic reduction and partial loss of reduction, respectively. The magnitude of improvement of ASES scores for patients with anatomic reduction and partial loss of reduction (p = 0.20) was 18.1 and 20.0, respectively. The magnitude of improvement of Constant scores in patients with anatomic reduction and partial loss of reduction (p = 0.25) was 19.9 and 22.3, respectively. Conclusions The technique yielded acceptable functional outcomes in patients with anatomic reduction or partial loss of reduction. The “duo-figure-8” wrapping method—a single autogenic tendon graft passing beneath the coracoid process with a tendonknot fixation over the distal clavicle and looping around the acromion intramedullary—did not increase the risk of peri-tunnel fractures over the clavicle, coracoid process, or acromion.

Objective To investigate the association of PR gene exon 5 region H770H (rs1042839) single nucleotide polymorphism (SNP) with the genetic susceptibility to endometriosis (EM) in southern Han Chinese women. Methods Totally 431 EM patients and 499 non-EM women were collected and separated into EM group and control group, that all cases were confirmed by operation and pathology. A case-control study was performed in EM and control groups to evaluate the association of these SNP with the susceptibility to EM by using a fluorescent quantitative PCR-based high resolution melting (HRM) method. Results The C and T of PR H770H allele frequencies among the EM and control groups were 97.9%(844/862), 2.1% (18/862) and 99.4% (992/998), 0.6% (6/998), respectively. The CC, CT and TT of PR H770H genotype frequencies among the EM and control groups were 95.8%(413/431), 4.2%(18/431), 0 and 98.8%(493/499), 1.2%(6/499), 0, respectively. There were statistical significances in the PR H770H alleles and genotypes distributions between the two groups (χ2=7.386, P=0.007;χ2=8.135, P=0.004). Carrying allele C reduced the risk of EM (OR=0.986, 95%CI: 0.976-0.996), while carrying allele T enhanced the risk of EM (OR=3.319, 95%CI: 1.323-8.325); carrying genotype CC reduced the risk of EM 0.970 time (OR=0.970, 95%CI: 0.949-0.991), whereas carrying genotype CT enhanced the risk of EM 3.473 times (OR=3.473, 95%CI:1.391-8.671). Conclusion There is significant association between the polymorphism of PR H770H and genetic susceptibility to EM in southern Han Chinese women.

Objective To investigate the association of tumor necrosis factor-alpha (TNF-α) gene promoter region - 1031T/C and its combination with interleukin-6 (IL-6 ) gene promoter region -634C/G single nucleotide polymorphisms (SNP) with the genetic susceptibility to endometriosis.Methods Total of 432 endometriosis patients and 499 non-endometriosis women who had received an operation due to tubal ligation,tubal recanalization,laparoscopic hydrotubation,ovarian simple cyst and teratoma were collected and separated into endometriosis group and control group,that all cases were confirmed by operation and pathology.A case-control study was performed in endometriosis and control group to evaluate the association of these SNP with the susceptibility to endometriosis by using a fluorescent quantitative PCR-based high resolution melting ( HRM ) method.Results ( 1 ) TNF-α - 1031T/C genotype:the T and C of TNF-α - 1031T/C allele frequencies in the endometriosis group and control group were 79.2％ (684/864),20.8％ (180/864) and 81.8％ (816/998),18.2％ (182/998),respectively.The TT,TC and CC of TNF-α - 1031T/C genotype frequencies in the two groups were 63.7％ (275/432),31.0％ ( 134/432 ),5.3％ (23/432) and 66.5％ (332/499),30.5％ (152/499),3.0％ ( 15/499),respectively.There were no statistical significances in the TNF-α - 1031T/C alleles and genotypes distributions between the two groups ( P =0.158,P =0.186 ).( 2 ) TNF-α - 1031T/C and IL-6 - 634C/G conjoint genotypes:to research on the TNF-α - 1031T/C and IL-6 -634C/G genotypes for conjoint analysis,the TT + CC,TC + CC,CC +CC,TT + CG,TC + CG,CC + CG,TT + GG,TC + GG and CC + GG combination genotype frequencies in the two groups were 39.4％ ( 170/432 ),19.4％ ( 84/432 ),4.6％ ( 20/432 ),20.6％ ( 89/432 ),8.8％ (38/432),0.9％ (4/432),3.5％ (15/432),2.3％ (10/432),0.5％ (2/432) and 36.7％ ( 183/499),17.4％(87/499),1.4％ (7/499),26.1％ (130/499),10.4％ (52/499),1.2％ (6/499),3.8％ (19/499),2.6％ ( 13/499),0.4％ (2/499),respectively.There were no statistical significances in the combination genotypes distributions between the two groups ( P =0.107 ).As compared with carriers of TT + CC combination genotype,the endometriosis risk of carriers of CC + CC combination genotype enhanced 3.076 times ( 95％ CI:1.268 - 7.457,P =0.009 ),and the endometriosis risk of carriers of other combination genotypes were no statistical significances (all P ＞ 0.05 ).ConclusionsThe study demonstrates that there are no significant association between the SNP of TNF-α - 1031T/C and genetic susceptibility to endometriosis.However the results indicate that there are significant association betweengenetic susceptibility to endometriosis and the combination polymorphisms of TNF-α -1031T/C and IL-6- 634C/G.