Deafness gene GJB2 is located in 13q11-q12,which codes for the protein connexin 26(CX26). Up to 50% of autosomal recessive nonsyndromic hearing loss are accounted for by mutations in the GJB2 gene. However, in different ethnic groups, the mutational sites of GJB2 gene are also different. For examples, 35delG is the most common mutation in Europe and USA. In Ashkenazi Jews, 167delT is most common. While among the Asians,235delC is makes up a large proportion of the GJB2 gene mutation. Because of the special status of GJB2 gene in hereditary hearing loss, its diagnostic screening technique is especially important. On the basis of newborn hearing screening, it is suggested that we should be to blend into the deaf disease gene screening at the molecular level, because they play an important role in early detection and intervention on congenital hearing loss.

The possibility of polyoxymethylene (POM) as heart valve leaflet material was investigated by comparing the hemocompatibility with that of 316L stainless steel and low-temperature isotropic pyrolytic carbon (LTIC). Surface hydrophobicity was characterized by water contact angle measurement. Platelet adhesion, APTT/PT/TT and hemolysis rate tests were applied for evaluating hemocompatibility. The results showed that POM was hydrophobic and had a low hemolytic rate, adhesion amount and activation degree of platelets on POM surface were less than 316L stainless steel, and was similar to LTIC. This research pointed out potential application of POM as heart valve leaflets.
Biocompatible Materials ; chemistry ; Blood Platelets ; Carbon ; chemistry ; Heart Valve Prosthesis ; Heart Valves ; Humans ; Platelet Adhesiveness ; Resins, Synthetic ; chemistry ; Stainless Steel ; chemistry

Objective To understand the source of knowledge on schistosomiasis prevention and control and the acceptable degree on different propagation patterns of population in Jingjiang City after schistosomiasis transmission?interrupted,so as to provide the evidence for the production of suitable materials for health education. Methods The permanent residents,floating population as well as the primary school students in Grade 5 and 6 in riverside regions in Jingjiang City were selected as the in?vestigation objects,the information propagation condition and the knowledge source,and the expected propagation patterns were investigated by questionnaires. Results The popularizing rates on the television,computer and mobile phone of the villag?ers were 99.81%,84.16% and 87.78%,respectively. Both the two investigated schools had the independent TV network,broad?cast and multimedia,and all the computer classroom could connected to Internet. The main sources on schistosomiasis control of permanent residents and floating population were folders and the exhibition board(62.0% and 40.5% respectively),the substan?tial material(42.0% and 33.5% respectively)and TV(40.5% and 36.0% respectively),while those of the students were video CD(100%),substantial material(99.5%)and folders and the exhibition boards(84.2%). The propagation ways with high ac?ceptable degrees among the residents and floating population were substantial material,folders and the exhibition boards and short messages by mobile phone,while those among the students were video CD,substantial material,folders and the exhibition boards. Conclusion The material on health education should be targeted to the demands of the different populations and their condition of information propagation,in addition,the Internet material should be developed and the communicational channels should be broaden.

Objective To investigate the infection situation of intestinal nematodes and knowledge about the prevention and control of intestinal nematodiasis,so as to explore the effective control measures in Jingjiang City. Methods The towns where more floating people lived were randomly selected and the infection situation of intestinal nematodes was investigated with Kato-Katz method,and the residents'awareness of the prevention and control of nematodiasis was surveyed with questionnaires. Re-sults From 2013 to 2015,totally 4555 local residents and 2278 floating people were investigated in Jingjiang City. The infec-tion rate of intestinal nematodes was 0.29%(13 cases)in the local people,while the rate was 0.75%(17 cases)in the floating people,and the difference was significant(χ2=7.380,P<0.01). The differences of the intestinal nematode infection rates be-tween sexes in both local residents and floating people were not significant(χ2=0.010,0.048,both P>0.05). The awareness rate of intestinal nematodiasis prevention and control of the local residents was significantly higher than that of the floating peo-ple(χ2 =9.649-164.533,all P<0.01). Conclusion The floating people is the focus of intestinal nematodiasis control,and the health education of ancylostomiasis control should be strengthened in Jingjiang City.

Objective To evaluate the feasibility and efficacy of twin grasper combined with endoloops on closing acute stomach perforation.Methods Two experimental porcines of stomach perforation underwent endoscopic closure by twin grasper combined with endoloops.Survival conditions and closure of perforating were observed.Results Mild infection and abdominal adhesions were observed in one week after operation.The nylon rope fell off and an ulcer-like lesion was presented in the closed position.The methylene blue leak test was negative.Histologic examination revealed chronic inflammatory cells infiltration,granulation,fibroplasias,and regenerative mucous membrane crawling toward the center of perforation.Conclusion The technique of twin grasper combined with nylon ropes in closing the acute stomach perforation is feasible and effective.

Objective To reduce the perioperative complications of simultaneous pancreas and kidney transplantation (SPK ) and boost the clinical efficacy by exploring its perioperative management in diabetics with end-stage renal disease .Methods Retrospective analysis was performed for the clinical data of 5 diabetics with end-stage renal disease undergoing SPK since 2017 .Results The cold ischemic time of all allografts was under 8 hours .No surgical complications occurred in recipients post-transplantation .Two patients were complicated with hyperkalemia and their serum potassium levels normalized after treatment .One case of bleeding in abdominal cavity was cured conservatively . Renal functions of two patients with delayed renal function post-transplantation gradually recovered after hematodialysis . One case of peritransplant fluid collection recovered after debridement and drainage .Another case of acute left heart failure and cardiac arrest at 45 days post-transplantation resumed normal heart rhythm after rescue .However ,his consciousness could not be restored and his families gave up subsequent treatments . Transplanted kidneys and pancreases of these 4 patients normalized .Follow-up was conducted until March 20 , 2019 . They became insulin and dialysis independent and serum creatinine and blood glucose normalized .Diabetic complications were relieved and their quality-of-life also improved significantly .Conclusions SPK is an effective treatment for diabetics with end-stage renal disease .While maintaining normal serum creatinine and blood glucose , it may liberate patients from insulin dosing and dialytic maintenance ,lower diabetic complications and improve quality-of-life .

Objective To investigate the difference of blood supply in different areas of the normal femoral head in adults.Methods A retrospective study analyzed the DCE-MRI parameters data of 2 5 normal adults (25 right hips)in our hospital.The femoral head was assumed to be a sphere.On T1 WI of DCE-MRI,the right femoral head was divided into three parts equally in coronal,sagittal, and transverse plane respectively.Time to peak(TTP),maximum of enhancement at first past(fEmax),maximum of enhancement (Emax)were measured in three parts and compared in coronal,sagittal and transverse plane respectively.Results (1 )In coronal plane,there were no significant differences between the three parts in TTP,fEmax and Emax.(2 )In transverse plane,fEmax and Emax were lower in the transverse superior zone than that in the transverse central zone significantly (P＝0.024 and P＝0.001)and the transverse inferior zone(P＝0.005 and P＝0.018).TTP was higher in the transverse superior zone than that in the transverse central zone and the transverse inferior zone(P＝0.005 and P＝0.018).(3)In sagittal plane,fEmax and Emax were lower in the sagittal lateral zone than that in the sagittal centralzone (P＝0.019 and P＝0.041)and sagittal medial zone (P＝0.047 and P＝0.01 1).TTP was higher in the sagittal lateral zone than that in the sagittal central zone and the sagittal medial zone(P＝0.014 and P＝0.010).There were no significant differences between other paired zones of the any values.Conclusion DCE-MRI can show the microcirculation in the normal adult femoral head in a non-invasive way.According to DCE-MRI parameters,there are poor perfusions on the transversesuperior and sagittallateral zones of the normal femoral head in adults.

Objective:To investigate the efficacy of two-way needle suture technique (TNST) in the minimally invasive repair of acute closed Achilles tendon rupture.Methods:From June 2019 to June 2021, 26 patients with acute closed Achilles tendon rupture were treated at Zhengzhou Orthopedic Hospital. They were 20 males and 6 females, with a mean age of 28 (23, 31) years. The rupture end was (4.2±1.3) cm away from the calcaneal insertion, and the interval from injury to operation 4.3 (2.0, 5.0) d. Preoperative MRI examinations revealed in all the patients closed Achilles tendon rupture which was to be repaired by TNST. The operation time, incision length, incidence of complications, ankle dorsiflexion and plantar flexion were recorded. The Arner-Lindholm scoring was used to evaluate the clinical efficacy.Results:The operation time was (20.0±5.0) min and the incision length (2.5±0.4) cm. Postoperatively, all incisions healed by the first stage, with no complications like incision infection, skin edge necrosis, deep vein thrombosis at lower limbs, injury to the sural nerve, or re-rupture of the Achilles tendon. All patients were followed up for (12.0±6.0) months. At the last follow-up, the patients walked normally, their incisions healed well, the continuity of the Achilles tendon was good by palpation, their heel lift was strong, and all their activities were restored to the levels before rupture of the Achilles tendon. The ankle dorsiflexion was 22.6°±3.7° and the plantar flexion 25.3°±3.7°, According to the Arner-Lindholm evaluation, the clinical efficacy was rated as excellent in 25 cases and as good in 1 case, giving an excellent and good rate of 100% (26/26).Conclusion:In the minimally invasive repair of acute closed Achilles tendon rupture, TNST shows the advantages of limited surgical invasion, a low incidence of postoperative complications, and reliable curative effects.

Objective: To report a case of peripheral neuropathy secondary to copper deficiency (CD) by long-term decoppering chelation in Wilson′s disease (WD) to enhance understanding of the disease, and to pay more attention to individualized treatment of WD. Methods: A case of WD diagnosed 12 years ago confirmed by gene detection and since then treated with anti-copper agent was diagnosed as CD based peripheral neuropathy and significant neutropenia and followed up for six months, and the clinical manifestations, laboratory examination, electrophysiology, imaging features were summarized. The related literatures were reviewed. Results: A total of 16 cases of WD complicated with CD were reviewed and analyzed, including seven males and nine females aged 13-56 years. All of them were treated with zinc for 1-38 years, and nine cases with peripheral neuropathy. Hematological indicators can be significantly improved and neurological symptoms can be partially alleviated after stopping copper removal treatment. Conclusions Peripheral neuropathy in a WD with treatment-related CD may occur in blind treatment, irregular treatment monitoring and without individualized treatment adjustment. It is necessary to monitor blood routine, copper and zinc metabolism regularly and advocate individualized treatment of WD.

Objective:To investigate the causes, diagnosis, treatment and prognosis of children with spinal cord injury without radiologic abnormality caused by non-severe violence, and to raise the awareness of spinal cord injury in children.Methods:Retrospective analysis was performed on the age of onset, injury mechanism, main clinical symptoms and occurrence time, treatment process and recovery of children with spinal cord injury without radiologic abnormality caused by non-severe violence. The children were admitted to our hospital from August 2015 to September 2020. Abnormal findings in spinal cord MRI in acute stage were analyzed, and long-term prognosis was followed up by telephone. The degree of spinal cord injury was determined according to the criteria established by the American Spinal Cord Injury Association.Results:Of six patients, three boys and three girls, aged from 16 months to 8 years old.Injury mechanism: fall on the bed, a sudden fall in standing position, fall while jumping in sports.All of the symptoms appeared immediately after trauma, such as limb weakness, pain, unable to walk, urination disorders.Treatment process: spinal immobilization, methylprednisolone pulse therapy[20 mg/(kg·d)], alleviat edema and protect the nerve system, necessary symptomatic treatment including urethral catheterization, the use of antibiotics, timely rehabilitation treatment.No fracture or dislocation was found in all six patients by spinal cord radiometric examination, and MRI of spinal cord indicated abnormal signals of thoracic cord or below. The recovery sequence of spinal cord function: urination function recovery, pain from lower limbs relief, lower limbs weakness improvement.By the time of follow-up by telephone, the course of disease was 1 to 5 years. Urine fecal incontinence was found in one patient, and his muscle strength of both lower extremities belong to grade Ⅰ, atrophic changes were found in spinal cord MRI.The remaining five patients were able to walk independently, complained of leg pain during long distance walking, mild varus or valgus, and no obvious abnormality in spinal cord MRI.Conclusion:In daily activities, except bend down in dancing, falling on the sacral tail is easy to cause spinal cord injury without fracture and dislocation in children. The damaged spinal cord function often cannot recover thoroughly, and even cannot recover. It is advisable to identify early, formulate comprehensive treatment measures in time, strive to improve the prognosis.