Objective To detect characteristics and the pathogenesis of rhodopsin (RHO) gene mutation in an inbreeding family with autosomal recessive retinitis pigmentosa (ARRP). Methods Peripheral venous blood 5-8 ml was abstracted from 8 members in the inbreeding ARRP family and 10 control individuals. DNA gene group was picked. Extron 1-5 of RHO gene was amplified by polymerase chain reaction (PCR)，and the mutation of RHO gene was screened by direct DNA sequence measurement. Results The Gln-344-Arg mutation in the RHO gene was detected in 3 patients with ARRP and homozygotes of the mutation in 3 patients were found. Heterozygous of the mutation was detected in the parent of patients and 1 healthy family member. No mutation of RHO gene was found in 2 healthy family members and 10 control individuals. Conclusions The Gln-344-Arg mutation in the RHO gene may be the pathogenic factor of the ARRP family; the frequency of the mutation of RHO gene may increase in the in breeding ARRP family.(Chin J Ocul Fundus Dis，2004，20：145-148)
目的 观察内镜下食管静脉曲张套扎术联合药物治疗肝硬化食管静脉曲张出血的临床疗效。 方法 回顾性分析2007年2月－2010年8月56例确诊为肝硬化食管静脉曲张出血患者，随机分为联合治疗组和对照组，各28例。对照组行胃镜下套扎术联合生长抑素、泮托拉唑；联合治疗组行内镜下套扎术联合生长抑素、泮托拉唑、普萘洛尔等药物治疗。观察所有食管静脉曲张出血患者1、3、6、12、18个月后随访，两组近期再出血率、食管曲张静脉消失率及复发率、不良反应及并发症的情况。 结果 联合治疗组曲张静脉消失率、不良反应及并发症与对照组比较，差异无统计学意义（P＞0.05）；联合治疗组近期再出血及食管静脉曲张复发等发生率明显低于对照组，差异有统计学意义（P＜0.05）。 结论 食管静脉曲张套扎术联合药物是治疗食管静脉曲张出血一种安全有效的方法，疗效确切，提高了患者生存率。
ObjectiveTo evaluate the early effectiveness of one-stage total knee arthroplasty (TKA) with tibial stem extender for knee arthritis complicated with tibial stress fractures. MethodsBetween January 2014 and November 2016, 12 patients (12 knees) with knee arthritis and tibial stress fractures underwent one-stage TKA with tibial stem extender. There were 5 males and 7 females with an average age of 71.5 years (range, 60-77 years). There were 8 cases with osteoarthritis and 4 cases with rheumatoid arthritis. The radiographic examination showed the 6 cases of intra-articular fractures and 6 of extra-articular fractures (including transverse fractures in 4 cases and short oblique fractures in 2 cases); 2 cases complicated with middle and upper fibular fractures; 12 cases of varus deformities. Preoperative Knee Society Score (KSS) clinical score was 31.5±8.4 and functional score was 33.3±9.0. The preoperative range of motion (ROM) of the knee was (65.6±9.6)°. ResultsAll incisions healed primarily and no wound infection or skin necrosis occurred. All patients were followed up 36.5 months on average (range, 6-52 months). X-ray films showed that all fractures healed at 3-7 months (mean, 4 months); the position of the prosthesis was good, and no loosening or signs of infection occurred. At last follow-up, the KSS clinical score was 90.5±8.9 and functional score was 92.1±7.8; the ROM of the knee was (115.0±9.8)°. All indexes were significantly improved than those before operation (t=40.340, P=0.000; t=32.120, P= 0.000; t=8.728, P=0.000). ConclusionOne-stage TKA with tibial stem extender for patients with knee arthritis and tibial stress fractures can restore limb alignment, facilitate fracture healing, and obtain the satisfactory early effectiveness.
ObjectiveTo systematically review the influencing factors of breast cancer patients in treatment decision-making. MethodsWeb of Science, PubMed, EMbase, The Cochrane Library, JBI Evidence Synthesis, CINAHL, CNKI, WanFang Data, VIP and CBM databases were electronically searched to collect qualitative studies about the influencing factors of breast cancer patients in treatment decision-making from inception to October 2021. Two reviewers independently screened literature, extracted data and assessed the risk of bias of the included studies. Then, the results were combined using integrating methods. ResultsA total of 13 studies were included. Sixty-seven results were extracted, with 22 results retained after incorporation and removal of duplications. The 22 results were grouped according to their similarities to form 6 categories. These categories resulted in two synthesized findings: influencing factors of patient participation in treatment decision-making and integration results and influencing factors of patients' treatment options. ConclusionBreast cancer patient participation in treatment decisions is influenced not only by internal factors, but also by family and external situational factors. When patients choose treatment, they consider not only their personal values and preferences, but also the impact of treatment on their families and their expectations. The choice is also influenced by social and cultural aspects.
Lumbar spondylolisthesis is a common condition in spinal surgery, which is often characterized by lower back and leg pain and numbness. There are various treatment methods for this condition, and different treatment plans should be adopted according to different situations. Traditional open surgery methods are relatively traumatic and have longer recovery times, while minimally invasive spine techniques have advantages such as smaller incisions, less bleeding, higher fusion rates, and faster recovery. This review summarizes the relevant literature on the application of minimally invasive techniques in the treatment of lumbar spondylolisthesis in recent years, analyzes and compares the advantages and disadvantages of different approaches and endoscopic techniques, as well as reduction, decompression, and fusion effects. The aim is to provide reference for surgeons in selecting surgical procedures for the treatment of lumbar spondylolisthesis.
Objective To analyze the clinical effect of TINAVI robotic system-assisted pedicle screw internal fixation for thoracolumbar fracture with a Thoracolumbar Injury Classification and Severity Score (TLICS) of 4. Methods A total of 38 patients with TLICS 4 thoracolumbar fracture treated between January 2019 and January 2021 who met the selection criteria of Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital were retrospectively analyzed. According to the results of doctor-patient communication, 18 cases were treated with robot-assisted minimally invasive surgery (robot group), and 20 cases were treated with traditional conservative treatment (non-surgical group). Complications during hospitalization were observed. After discharge, the patients in the two groups were followed up by telephone and outpatient clinic. The Visual Analogue Scale (VAS) score at admission, at discharge, and 3 and 6 months after discharge, and the Oswestry Disability Index (ODI) score 3 and 6 months after discharge were compared between the two groups. Results There were no statistically significant difference in age, sex, body mass index or distribution of injured vertebrae segment between the two groups (P>0.05). No serious complication occurred in any group during hospitalization. The difference in the length of hospital stay between the two groups was not statistically significant (P>0.05). The bed rest in the robot group was shorter than that in the non-surgical group [(4.83±0.92) vs. (43.05±2.70) d, P<0.05]. The VAS scores at discharge (2.50±0.51 vs. 5.05±1.00), 3 months after discharge (1.83±0.71 vs. 3.10±0.72) and 6 months after discharge (1.50±0.51 vs. 1.90±0.79) in the robot group were lower than those in the non-surgical group (P<0.05). The ODI scores 3 months after discharge (21.89±1.41 vs. 30.40±3.00) and 6 months after discharge (10.72±2.37 vs. 12.10±2.29) in the robot group were significantly lower than those in the non-surgical group (P<0.05). Conclusion For patients with TLICS 4 thoracolumbar fracture, the early clinical effect of robot-assisted surgical treatment is better than that of non-surgical treatment.
Objective To explore the effectiveness of passive immunization of fetus via mother on preventing the transmission of HBV from mother to infant. Methods A prospective randomized controlled study was designed. Fifty-two HBeAg positive pregnant women were randomly allocated to two groups, of which 28 women were allocated to trial group, and injected with 200 IU of hepatitis B immune globulin (HBIG) for 1 injection at the 28th, 32nd and 36th weeks of pregnancy respectively, 24 women allocated to control group were given no injection of HBIG. The samples of cord blood from the newborns in two groups were collected and tested for HBeAg and HBV-DNA by ELISA and FQ-PCR. Results The rates of HBeAg positive in the newborns were 21.4% in trial group, 79.2% in control group. There was statistically significant difference between two groups ( χ2=17.26, Plt;0.01, RR=0.27). The rates of HBV-DNA positive in newborns were 25.0% in trial group, 83.3% in control group, showing statistically significant difference between the two groups (χ2=17.62, Plt;0.01, RR=0.30). In the trial group, there were 21 newborns with HBV-DNA negative, 7 with HBV-DNA positive. HBV-DNA quantities were significantly lower in 7 newborns than in their mothers (T=28, P=0.02, Wilcoxon test). Conclusions Multiple injections of HBIG to pregnant women with HBeAg positive before labor could greatly reduce mother-infant transmission of HBV.