Clinical features and genetic analysis of a case of Wiedemann-Steiner syndrome due to variant of KMT2A gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic etiology of a child with Wiedemann-Steiner syndrome.@*METHODS@#A child with WSS who was admitted to the Hematology Department of Tianjin Children's Hospital in May 2021 was selected as the subject. Clinical data of the child was collected. Peripheral blood samples were collected from the child and his parents for the extraction of genomic DNA. The child was subjected to whole exome sequencing, and candidate variant was verified by Sanger sequencing of the child and his parents.@*RESULTS@#The main clinical features of the child have included pancytopenia, growth and mental retardation, and facial dysmorphism. Whole exome sequencing revealed that the child has harbored a heterozygous variant of the KMT2A gene, namely c.7804delA (p.M2602Cfs*39). Sanger sequencing verified the variant to be de novo in origin. The variant was unreported previously and predicted to be pathogenic based on the guidelines of American College of Medical Genetics and Genomics (PVS1+PS2+PM2).@*CONCLUSION@#The heterozygous c.7804delA (p.M2602Cfs*39) variant of the KMT2A gene probably underlay the WSS in this child. Above finding has enriched the mutational spectrum and clinical phenotypes of the KMT2A gene.

Antibacterial and osteogenic properties of biomimetic mineralized iodine-loaded coating with micro-nano topography on bone implants / 中华创伤骨科杂志

Objective:To investigate the antibacterial and osteogenic properties of biomimetic mineralized iodine-loaded coating with micro-nano topography on the surface of bone implants.Methods:After the fiber network structure of sodium hydrogen titanate was constructed by alkali thermal reaction on the surface of Ti6Al4V (noted as AT), it was biomimetically mineralized in the modified simulated body fluid to form a micro-nano topology with high specific surface area (noted as AT-CaP), and finally loaded with PVPI to construct a novel antibacterial osseointegration coating (noted as AT-CaP-PVPI). The study was conducted in AT, AT-CaP, and AT-CaP-PVPI groups, in each of which 3 parallel experiments were performed. The morphology and colony counting of Staphylococcus aureus on the coating surface were observed to detect the in vitro antibacterial performance of the coating. Fifteen male SD rats were randomly divided into 3 groups ( n=5): AT, AT-CaP, and AT-CaP-PVPI. After intramedullary injection of Staphylococcus aureus into the lower end of the femur in the SD rats, titanium rods coated with AT, AT-CaP, and AT-CaP-PVPI were inserted into the marrow cavity. The osteogenesis, volume ratio of new bone mass and number of trabeculae on the surface of the femoral implants were compared between the 3 groups 4 weeks after operation. Results:In AT and AT-CaP groups, a large number of bacteria grew in their inherent elliptical or spherical shape on the implant surface and a large number of colonies were seen on the plate; in AT-CaP-PVPI group, the bacteria on the coating surface exhibited membrane deformation and depression, some of them were completely broken and dissolved, and a large number died. There was almost no new bone formation around the implants in AT group; new bone scattered around the implants with discontinuous distribution in AT-CaP group; a great amount of new bone was seen around the implants with even distribution but no signs of infection in AT-CaP-PVPI group. The volume ratio of new bone mass and the number of trabeculae on the implant surface in AT-CaP-PVPI group were 0.453±0.206 and 6.055±0.536, respectively, significantly higher than those in AT group (0.046±0.028 and 1.667±1.249) and AT-CaP group (0.188±0.052 and 3.804±0.889) ( P<0.05). Conclusion:Biomimetic mineralized iodine-loaded coating with micro-nano topography on the surface of bone implants shows good antibacterial and osteogenic properties.

Practical research of diversified laboratory open training to improve clinical skills of medical students / 中华医学教育探索杂志

Objective:To improve the clinical skills of medical students, and explore the implementation plan and effect of diversified laboratory open training.Methods:A total of 808 undergraduate students of clinical medicine in Batch 2015 were selected for diversified laboratory open training in the 5th, 6th and 7th semesters. Multiple reservation methods were adopted including: personal independent network reservation, written reservation, "registered" network reservation; diversified open model: students practice independently, "workshop" special operation training, team make-up lessons; diversified practice modules: basic skills, specialist skills, and comprehensive skills. The results of the questionnaire survey on the two stages of students' diversified laboratory open training and the end of the internship were analyzed; and the Batch 2015 and Batch 2014 graduation skills test scores were compared. SPSS 20.0 software was used for t-test. Results:After the opening of the diversified laboratory: 92.61% (664/717) of the students were satisfied with the open model; 93.58% (671/717) of the students were satisfied with the reservation method; 94.42% (677/717) of the students thought that it could promote learning motivation; 97.35% (698/717) of the students thought that it could stimulate learning interest; 96.51% (692/717) of the students thought that it could help knowledge and skills grasp. After the internship and the return to the school, the questionnaire showed that 98.02% (741/756) of the students thought it could improve clinical skills; 92.33% (698/756) of the students thought it could cultivate clinical thinking; 95.63% (723/756) of the students thought it could enhance self-confidence in the internship; 94.18% (712/756) of the students thought it could increase a sense of professional belonging. The students' graduation skills (90.33±5.59) and single skill exam scores of Batch 2015 were better than Batch 2014 (82.22±7.19), with a statistically significant difference ( P<0.001). Conclusion:The opening of diversified laboratory could stimulate the interest and motivation of learning, help to improve clinical skills and clinical thinking, and enhance confidence in internship and sense of professional belonging.

Effect of Mankuining Decoction on Expression of Inflammatory Factors and Intestinal Flora in Mice with Ulcerative Colitis / 中国实验方剂学杂志

ObjectiveTo investigate the therapeutic effect and the possible mechanism of Mankuining decoction on dextran sulfate sodium （DSS）-induced ulcerative colitis （UC） in mice. MethodA total of 90 male SPF C57BL/6 mice were randomly classified into normal group， model group， mesalazine group （0.266 g·kg-1）， and high-， and medium-， low-dose （20， 10， 5 g·kg-1） Mankuining decoction groups， with 15 rats in each group. Mice， except the normal group， drank 3% DSS solution for 7 days to induce UC， and administration （ig） started on the day of modeling. The model group and the normal group were given equivalent amount of 0.9% normal saline once a day for 7 days. The general conditions of mice were recorded every day and the disease activity index （DAI） was calculated. On the 8th day， mice were killed by cervical dislocation. All the colons and feces were collected. The length of colon was recorded， and the histopathological changes of colon were observed based on hematoxylin-eosin （HE） staining. The content of inflammatory factors in colon was detected by enzyme-linked immunosorbent assay （ELISA）， and the changes of intestinal flora in mouse feces were determined based on 16SrRNA sequencing. ResultCompared with the normal group， the model group had severe colon damage， reduction in colon length （P<0.01）， increase in DAI （P<0.01）， decrease in interleukin-10 （IL-10） and transforming growth factor-β1 （TGF-β1） in colon（P<0.01）， rise of interleukin-1β （IL-1β）， interleukin-6 （IL-6）， interleukin-17α （IL-17α）， and tumor necrosis factor-α （TNF-α） in colon （P<0.05， P<0.01）， and decrease in abundance and diversity of intestinal flora. Compared with the model group， mesalazine and high-， medium-， low-dose Mankuining decoction alleviated the colon injury， recovered the length of colon （P<0.01）， decreased DAI （P<0.01）， increased IL-10 and TGF-β1 in colon （P<0.01）， and decreased IL-1β， IL-6， IL-17α， and TNF-α in colon （P<0.01）. Moreover， they raised the abundance and diversity of intestinal flora compared with the model group， as manifested by the increase in the abundance of Firmicutes， Akkermansia， Dubosiella， and Blautia and the decrease in the abundance of Bacteroidetes， Muribaculaceae， Clostridia_UCG-014， and Alistipes. ConclusionMankuining decoction has definite effect in treating UC mice， and the effect is positively correlated with the concentration. In addition， different concentration has different influence on the structure of flora. The mechanism is the likelihood that it alleviates the disorder of intestinal flora to restore intestinal immune balance and further promote the recovery of colonic mucosa.

Emergency ectopic embedment of a large extruded bone mass for open lower limb bone defects / 中华创伤骨科杂志

Objective:To explore the efficacy of emergency ectopic embedment of a large extruded bone mass in the treatment of open lower limb bone defects.Methods:From June 2015 to June 2019, 11 patients were treated for open lower limb bone defects at Department of Traumatic Orthopedics & Microsurgery, Renmin Hospital of Wuhan University by primary ectopic embedment of a large extruded bone mass. They were 8 males and 3 females, aged from 18 to 57 years (mean, 35.3 years). The time from injury to operation ranged from 4 to 12 hours (mean, 6.3 hours). The size of free bone mass ranged from 3 to 16 cm (mean, 8.7 cm). At the emergency primary stage, following vascular and nerve anastomosis, large extruded bone masses were embedded ectopically to the sites with rich blood supply after cleaning and disinfection. The embedment was lateral to the thigh in 9 cases and in the groin in 2 cases. Wound repair was performed at the second stage, and bone replantation at the third stage, followed by internal plate fixation in 6 cases and external fixation in 5 cases. Fracture union was evaluated by regular X-ray follow-ups. At the last follow-up, Paley score was used to evaluate the curative outcomes, SF-36 score to evaluate functional recovery, and complications were recorded.Results:All patients were followed up for 6 to 50 months (mean, 15.5 months). Follow-ups observed no osteomyelitis. Fracture union was delayed in the 2 cases with external fixation but eventually achieved after bone graft and internal fixation. All fractures united after 5 to 12 months (mean, 8.5 months). The total treatment time ranged from 8 to 16 months (mean, 12.5 months). According to the Paley scores at the last follow-up, 7 cases were excellent, 3 good and one was poor, giving an excellent to good rate of 90.9% (10/11). The SF-36 scores for the postoperative quality of life averaged 86.7.Conclusion:Emergency ectopic embedment of a large extruded bone mass is a feasible treatment for open lower limb bone defects, with advantages of simplicity in operation and a low incidence of osteomyelitis.

Sequential therapy of external-internal fixation versus internal fixation alone for pilon fracture / 中华创伤骨科杂志

Objective:To compare the therapeutic effects between sequential therapy of external-internal fixation and internal fixation alone in the treatment of high-energy pilon fracture.Methods:A total of 61 patients with high-energy pilon fracture were enrolled by our team for this retrospective analysis who had been treated from January 2015 to July 2017. They received sequential therapy of external-internal fixation (the sequential group) or internal fixation alone (the internal group). In the sequential group of 26 cases, there were 19 males and 7 females (aged from 18 to 65 years), 4 cases of type C1, 8 cases of type C2 and 14 cases of type C3 by the OTA classification, and 7 cases of closed injury and 19 cases of open injury. In the internal group of 35 cases, there were 25 males and 10 females (aged from 19 to 64 years), 6 cases of type C1, 13 cases of type C2 and 16 cases of type C3 by the OTA classification, and 21 cases of closed injury and 14 cases of open injury. The 2 groups were compared in terms of postoperative infection, fracture reduction, fracture union time, nonunion, American Orthopedic Foot and Ankle Society (AOFAS) ankle-hindfoot score, short form 36 health survey questionnaire (SF-36) and reduced range of motion between healthy and affected ankles.Results:There was no significant difference between the 2 groups in gender, age, fracture type, injury cause or follow-up time ( P>0.05), but a significant difference in soft tissue injury favoring the sequential group ( P=0.010). There were no significant differences between the 2 groups in postoperative infection rate [15.4% (4/26) versus 17.1% (6/35)], fracture reduction, fracture union time [(7.4±3.4) months versus (6.5±3.2) months], nonunion rate [7.7% (2/26) versus 8.6% (3/35)], AOFAS ankle-hindfoot score (71.7±29.4 versus 74.4±19.5), or SF-36 (83.1±9.9 versus 83.8±7.9) ( P>0.05). The reduced range of motion between healthy and affected ankles at 6 months postoperation in the sequential group (34.6°±7.2°) was significantly greater than that in the internal group (23.7°±5.1°) ( P<0.05), but there was no significant difference between the 2 groups in the reduced range of motion between healthy and affected ankles at 2 years postoperation (26.0°±11.1° versus 21.8°±11.3°) ( P>0.05). Conclusion:Although both sequential therapy of external-internal fixation and internal fixation alone can lead to fine clinical efficacy in the treatment of high-energy pilon fracture, the former may be more suitable for the patients with severe soft tissue injury.

Role of N / 临床肝胆病杂志

N 6 -methyladenosine (m6A) is a chemical modification that exists in a variety of RNAs and is most commonly observed in mRNA. The liver is a vital metabolic and digestive organ in human body, and m6A methylation plays an important role in the physiological and pathological processes of the liver. This article reviews the biological role and potential application value of m6A methylation in liver physiology and liver diseases such as viral hepatitis, nonalcoholic fatty liver disease, liver fibrosis, and hepatocellular carcinoma, and it is pointed out that m6A methylation can regulate related factors and is involved in the development and progression of liver diseases, which provides new ideas and targets for clinical diagnosis and treatment.

Neuroimage-Based Consciousness Evaluation of Patients with Secondary Doubtful Hydrocephalus Before and After Lumbar Drainage / 神经科学通报·英文版

Hydrocephalus is often treated with a cerebrospinal fluid shunt (CFS) for excessive amounts of cerebrospinal fluid in the brain. However, it is very difficult to distinguish whether the ventricular enlargement is due to hydrocephalus or other causes, such as brain atrophy after brain damage and surgery. The non-trivial evaluation of the consciousness level, along with a continuous drainage test of the lumbar cistern is thus clinically important before the decision for CFS is made. We studied 32 secondary mild hydrocephalus patients with different consciousness levels, who received T1 and diffusion tensor imaging magnetic resonance scans before and after lumbar cerebrospinal fluid drainage. We applied a novel machine-learning method to find the most discriminative features from the multi-modal neuroimages. Then, we built a regression model to regress the JFK Coma Recovery Scale-Revised (CRS-R) scores to quantify the level of consciousness. The experimental results showed that our method not only approximated the CRS-R scores but also tracked the temporal changes in individual patients. The regression model has high potential for the evaluation of consciousness in clinical practice.

Neuroimage-Based Consciousness Evaluation of Patients with Secondary Doubtful Hydrocephalus Before and After Lumbar Drainage / 神经科学通报·英文版

Hydrocephalus is often treated with a cerebrospinal fluid shunt (CFS) for excessive amounts of cerebrospinal fluid in the brain. However, it is very difficult to distinguish whether the ventricular enlargement is due to hydrocephalus or other causes, such as brain atrophy after brain damage and surgery. The non-trivial evaluation of the consciousness level, along with a continuous drainage test of the lumbar cistern is thus clinically important before the decision for CFS is made. We studied 32 secondary mild hydrocephalus patients with different consciousness levels, who received T1 and diffusion tensor imaging magnetic resonance scans before and after lumbar cerebrospinal fluid drainage. We applied a novel machine-learning method to find the most discriminative features from the multi-modal neuroimages. Then, we built a regression model to regress the JFK Coma Recovery Scale-Revised (CRS-R) scores to quantify the level of consciousness. The experimental results showed that our method not only approximated the CRS-R scores but also tracked the temporal changes in individual patients. The regression model has high potential for the evaluation of consciousness in clinical practice.

Effects of supplying silicon nutrient on utilization rate of nitrogen and phosphorus nutrients by rice and its soil ecological mechanism in a hybrid rice double-cropping system / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

This study was conducted to reveal the effects of silicon (Si) application on nutrient utilization efficiency by rice and on soil nutrient availability and soil microorganisms in a hybrid rice double-cropping planting system. A series of field experiments were conducted during 2017 and 2018. The results showed that Si nutrient supply improved grain yield and the utilization rates of nitrogen (N) and phosphorus (P) to an appropriate level for both early and late plantings, reaching a maximum at 23.4 kg/ha Si. The same trends were found for the ratios of available N (AN) to total N (TN) and available P (AP) to total P (TP), the soil microbial biomass carbon (MBC), microbial biomass nitrogen (MBN), microbial biomass phosphorus (MBP), and the ratios of MBN to TN and MBP to TP, at different levels of Si. Statistical analysis further revealed that Si application enhanced rice growth and increased the utilization rate of fertilizer due to an ecological mechanism, i.e., Si supply significantly increased the total amount of soil microorganisms in paddy soil compared to the control. This promoted the mineralization of soil nutrients and improved the availability and reserves of easily mineralized organic nutrients.

Tissue transplantation combined with Ilizarov distraction technique to reconstruct bone and soft tissue defects in lower limb / 中华显微外科杂志

Objective:To investigate the therapeutic effect of tissue transplantation combined with Ilizarov distraction technique in reconstruction of lower limb anatomical structure and the recovery of lower limb functions.Methods:From October, 2010 to April, 2019, tissue transplantation combined with Ilizarov distraction technique was used to reconstruct the anatomical structures and functions of 51 lower limb defects, including 17 in proximal tibia, 27 in distal tibia, 4 partial defects of calcaneus and 3 in metatarsal bones. Surgical operations were carried out in 2 phases. Transplantation of free flaps to cover the wound surface was performed in the first phase. Thirty-three free anterolateral femoral flaps, 8 groin flaps, 5 anterolateral medial femoral flaps, 3 thoracic umbilical flaps, and 2 alissimus dorsi musculocutaneous flaps were transplanted, with the sizes ranged from 3.5 cm×15.0 cm to 8.0 cm×25.0 cm. In the second phase, Ilizarov ring rack or customer-designed distractor were applied/employed and 44 cases applied with Ilizarov ring racks and 7 cases with self-designed distractors. Regular postoperative followed-up.Results:All flaps survived. There was 1 partial necrosis on the anterolateral femoral flap and 3 postoperative infections. Bone transport was applied to repair 36 tibia defects, bone transport combined with limb extension to restore the length of limb in 8 cases, bone transverse or longitudinal distraction was applied to restore the shape of calcaneus in 4 cases, and longitudinal or transverse distraction was applied to restore the foot arch in 3 cases with metatarsal defects. Followed-up for 9 months to 2 years. There was no recurrence of osteomyelitis after the second operation. Bone healings were achieved in the articulation ends and extension areas of bone transport. The excellent rate of Paley bone score was 98.0%, the average SF-36 score was 88.9, and the average AOFAS score was 79.5.Conclusion:Tissue transplantation together with the Ilizarov technology is able to reconstruct a combined bone and soft tissue defect of lower limb and restore functions of the affected limb to the greatest extent.

Modified penile augmentation by dermal-fat graft in post-operative hypospadias adults / 中华整形外科杂志

Objecive@#To assess the clinical outcomes of patients who received modified penile augmentation by free dermal-fat grafting.@*Methods@#From April 2012 to December 2014, a total of 15 male adults (18-24 years of age) after hypospadias repairs were included. They underwent modified penile augmentation, including girth enhancement using free dermal-fat grafting, and penile elongation (suprapubic skin advancement-ligamentolysis). Penile measurements were performed using ruler before operation and 6 months after operation. The outcome was evaluated by patients, based on the Male Genital Image Scale. SPSS 22.0 was used to analyze the data. In-paired t-test and Wilcoxon test were applied.@*Results@#In 6-84 months of follow-up, all patients achieved excellent cosmetic results, and satisfied with the appearance and diameter. In weak state, the penile length increased from (5.03±0.47) cm to (6.69±0.49) cm. The increased value was (1.67±0.24) cm (t=8.6, P<0.001). Under traction, the penile length increased from (7.29±0.74) cm to (9.21±0.73) cm. The increased value was (1.93±0.21) cm (t=7.8, P<0.001). In weak state, the diameter of the middle part of penis increased from (7.16±0.25) cm to (8.69±0.44) cm, with the increased value of (1.53±0.23) cm (t=8.2, P<0.001). The MGIS score grew from 31.73±4.86 to 40.20±4.54(Z=3.2, P=0.001).@*Conclusions@#This modified technique is safe and effective in enlarging penile size for patients who had underwent hypospadias repair. It is confirmed that physical dimensional enhancement does contribute to improving their self-estimation of penile size.

The efficacy of green surgery pathway on senile hip fractures / 中华骨科杂志

Objective@#To evaluate the efficacy of green surgery pathway on senile hip fractures.@*Methods@#The green surgery pathway was implement in senile (≥75 years) hip fracture cases in our department since March 2016. A historically controlled trial study was designed: 97 senile hip fracture patients admitted between March 2016 and March 2017 were included in the intervention group and 78 senile hip fracture patients admitted between March 2015 and March 2016 were included in the control group. The patients’ general information were recorded, including gender, age, type of fracture, internal medical conditions, surgery method, the American Association of Anesthesiologists classification of physical status (ASA) classification, et al. The hip function was evaluated by the Harris score system at one week,6 months and one year after surgery. The waiting time for operation, operation time, length of hospital stay, complications during hospitalization and hip Harris score were compared between the two groups.@*Results@#For the baseline data between the two groups in terms of gender, age, fracture type, surgery method, ASA classification, and combined underlying disease, the differences were not statistically significant. The waiting time for operation of the green surgery pathway group (36.3±7.8 h) was significantly shorter than that in the control group (46.9±11.4 h, t=6.995, P=0.000). The operation time of the green surgery pathway group was 45.4±17.5 min, and that of the control group was 43.8±20.8 min, the differences were not statistically significant. The length of hospital stay in the green surgery pathway group (6.8±2.4 d) was significantly shorter than that in the control group (9.5±2.8 d), the difference was statistically significant (t=6.866, P=0.000). In the green surgery pathway group, one patient developed acute myocardial infarction at 15 h after surgery and died of invalid rescue. In the control group, one patient developed acute cerebral hemorrhage 3 d after surgery and died of invalid rescue. The incidence of pulmonary infection, urinary tract infection, and acne in the green surgery pathway group were lower than that in the control group, the differences were statistically significant (χ2PI=5.081, PPI=0.024; χ2UI=6.841, PUI=0.009; χ2acne=11.768, Pcne=0.001). For the incidence of acute myocardial infarction, acute cerebrovascular accident, pulmonary embolism and deep vein thrombosis between the two groups, the differences were not statistically significant. The Harris score of hip in the green surgery pathway was higher than that in the control group (72.6±13.1 points vs 62.2±15.4 points, t=4.826, P=0.000) one week after the surgery, the difference was statistically significant. While the score was slightly higher than that of the control group in the half year (93.8±16.8 vs 90.5±14.7) and one year (94.1±18.3 vs 92.4±15.9) after surgery, but the differences were not statistically significant. The mortality rate of the green surgery pathway was slightly lower than that of the control group within one year after surgery (6.19% vs 8.97%), but the difference was not statistically significant.@*Conclusion@#The implementation of green surgery pathway can reduce the occurrence of complications in bed, promote the early hip rehabilitation, effectively shorten the hospitalization time. It is worth further promotion because of its social benefits and health economic benefits.

Preparation and quality evaluation of levocarnitine thermosensitive in situ gel / 药学学报

In this paper, a new type of preparation for treatment of initial dry eye disease, thermosensitive in situ gel, was prepared using levocarnitine as a model drug. Poloxamer 407 and poloxamer 188 were used as the gel matrix, and sodium hyaluronate and sodium carboxymethylcellulose were used as bioadhesive materials. Gelation temperature was determined by a rotor method and the prescription was optimized by central composite design-response surface methodology. The pH value, viscosity value and gelation temperature of the optimal prescription were measured. The release of the drug in vitro was examined by dialysis membrane permeation, and retention time of the thermosensitive in situ gel preparation on the rabbit's ocular surface was observed by a slit lamp microscope. The results showed that the dosage of the poloxamer 407 and poloxamer 188 were 20.81% and 3.46%, respectively, and sodium hyaluronate was 0.02%, sodium carboxymethyl cellulose was 0.10% of the optimal formulation of levocarnitine thermosensitive in situ gel. The pH value was 6.90 ± 0.06 at room temperature and the viscosity value started to rise sharply at 27 ℃ of the optimal formulation. The gelation temperature of the optimal preparation before and after dilution by simulated tear fluid were (26.37 ± 0.06) ℃ and (33.57 ± 0.21) ℃, respectively. In the first 240 min, in vitro release rate per unit area of levocarnitine thermosensitive in situ gel was lower than that of solution (P<0.05), and after 600 min, the cumulative release rate of levocarnitine thermosensitive in situ gel could reach more than 80%. The retention time of the thermosensitive in situ gel preparation on rabbit's ocular surface reached about 25 min, at least 5 times as much as that of the solution. The animal experiment was conducted following the National Institutes of Health Guidelines for the use of experimental animals, and approved by the Ethics Committee of the Experimental Animal Center of Beijing University of Chinese Medicine. The levocarnitine thermosensitive in situ gel showed good characteristics and sustained release property and significantly improved the retention time of the drug on the rabbit's ocular surface.

Genetic polymorphisms of 23 autosomal short tandem repeat loci among ethnic Han Chinese from southern China / 中华医学遗传学杂志

OBJECTIVE@#To study genetic polymorphisms of 23 autosomal short tandem repeat (STR) loci among ethnic Han Chinese from southern China.@*METHODS@#The 23 autosomal STR loci among 331 unrelated healthy Han Chinese from southern China were genotyped with fluorescent multiplex amplification and capillary electrophoresis. Genetic parameters were subjected to statistical analysis.@*RESULTS@#In total 265 alleles and 890 genotypes were detected for the 23 STR loci. The numbers of alleles were 5-22, allelic frequency was 0.0015-0.5483, heterozygosity was 0.5891-0.9124, power of discrimination was 0.7818-0.9831, polymorphic information content was 0.5425-0.9031, probability of exclusion for trio-paternity testing was 0.2780-0.8208, and probability of exclusion for duo-paternity testing was 0.193-0.693. The combined power of discrimination was over 0.999 999 999 999 99, the combined probability of exclusion for trio-paternity identification was 0.999 999 999 729 813, and the combined probability of exclusion for duo-paternity identification was 0.999 999 207 508 474, respectively. The 23 STR loci showed no significant deviation from Hardy-Weinberg disequilibrium after Bonferroni correction (P> 0.05).@*CONCLUSION@#The 23 autosomal STR loci were highly polymorphic among ethnic Han Chinese from southern China, which showed a high efficiency for paternity testing, personal identification and population genetics.

Effects of Triptolide on Tc and Th Cell Excursion in Peripheral Blood of Nude Mice with Systemic Lupus Erythematosus BALB/c-un / 中国实验血液学杂志

OBJECTIVE@#To investigate the effect of triptolide on the excursion of Tc and Th cells in peripheral blood of systemic lupus erythematosus (SLE) BALB/c-un nude mice induced by pristane.@*METHODS@#Eighteen female BALB/c-un nude mice were randomly divided into blank, SLE and triptolide group, each with 6 mice by random table method. Group SLE and group triptolide were established by single intraperitoneal injection of pristane, and blank group was used as blank control group. SLE model was established by single intraperitoneal injection. Triptolide group was fed with triptolide at the dose of 5 mg/(kg·d), and the blank group and SLE group were fed normally. Blood samples were collected from the caudal vein before treatment and 1, 3 and 6 months after treatment respectively. Fluorescence labeled flow cytometry was used to delect Tc and Th lymphocyte subsets at different stages of treatment.@*RESULTS@#After treatment for 3 and 6 moths, the percentages of Tcl, Thl cells and CD8, Tcl/Tc2, Thl/Th2 and CD4/CD8 all decreased in the group of triptolide, and the percentage of CD4, Tc2 and Th2 cells increased (P＜0.05).@*CONCLUSION@#The mechanism of triptolide in the treatment of SLE may be related with the excursion of Tc and Th cells to Tcl and Tc2 to maintain the relative homeostasis of Tc and Th cells at different stage, thus affecting the immune response and the inflammatory reaction.

The efficacy of green surgery pathway on senile hip fractures / 中华骨科杂志

To evaluate the efficacy of green surgery pathway on senile hip fractures. Methods The green surgery pathway was implement in senile (≥75 years) hip fracture cases in our department since March 2016. A historically con?trolled trial study was designed: 97 senile hip fracture patients admitted between March 2016 and March 2017 were included in the intervention group and 78 senile hip fracture patients admitted between March 2015 and March 2016 were included in the con?trol group. The patients’general information were recorded, including gender, age, type of fracture, internal medical conditions, surgery method, the American Association of Anesthesiologists classification of physical status (ASA) classification, et al. The hip function was evaluated by the Harris score system at one week,6 months and one year after surgery. The waiting time for operation, operation time, length of hospital stay, complications during hospitalization and hip Harris score were compared between the two groups. Results For the baseline data between the two groups in terms of gender, age, fracture type, surgery method, ASA classi?fication, and combined underlying disease, the differences were not statistically significant. The waiting time for operation of the green surgery pathway group (36.3±7.8 h) was significantly shorter than that in the control group (46.9±11.4 h, t=6.995, P=0.000). The operation time of the green surgery pathway group was 45.4±17.5 min, and that of the control group was 43.8±20.8 min, the differences were not statistically significant. The length of hospital stay in the green surgery pathway group (6.8±2.4 d) was signifi?cantly shorter than that in the control group (9.5±2.8 d), the difference was statistically significant (t=6.866, P=0.000). In the green surgery pathway group, one patient developed acute myocardial infarction at 15 h after surgery and died of invalid rescue. In the control group, one patient developed acute cerebral hemorrhage 3 d after surgery and died of invalid rescue. The incidence of pul?monary infection, urinary tract infection, and acne in the green surgery pathway group were lower than that in the control group, the differences were statistically significant (χ2PI=5.081, PPI=0.024; χ2UI=6.841, PUI=0.009; χ2acne=11.768, Pcne=0.001). For the inci?dence of acute myocardial infarction, acute cerebrovascular accident, pulmonary embolism and deep vein thrombosis between the two groups, the differences were not statistically significant. The Harris score of hip in the green surgery pathway was higher than that in the control group (72.6±13.1 points vs 62.2±15.4 points, t=4.826, P=0.000) one week after the surgery, the difference was statistically significant. While the score was slightly higher than that of the control group in the half year (93.8±16.8 vs 90.5±14.7) and one year (94.1±18.3 vs 92.4±15.9) after surgery, but the differences were not statistically significant. The mortality rate of the green surgery pathway was slightly lower than that of the control group within one year after surgery (6.19% vs 8.97%), but the dif?ference was not statistically significant. Conclusion The implementation of green surgery pathway can reduce the occurrence of complications in bed, promote the early hip rehabilitation, effectively shorten the hospitalization time. It is worth further promotion because of its social benefits and health economic benefits.

A clinical analysis of the female urethral diverticulum / 医学研究生学报

Objective Surgical treatment of the urethral diverticulum is difficult and may be followed by serious postoperative complications such as urethro-vaginal fistula. The purpose of this study is to investigate the treatment of female urethral diverticulum and its clinical effect.Methods We retrospectively analyzed the clinical data on 20 cases of female urethral diverticulum confirmed and treated in our hospital from January 2010 to December 2017. We obtained the Overactive Bladder Symptom Score (OABSS) from the patients after admission, treated them by transvaginal urethral diverticulectomy under continuous epidural anesthesia, and compared the signs and symptoms before and after operation.Results All the patients showed significantly decreased incidences of perineal discomfort, frequent micturition, urgent urination, and dysuria after operation (P<0.05). The average OABSS was remarkably lower postoperatively than the baseline (4.9±1.8 vs 8.1±2.3, P<0.05). No such postoperative complications as hematuria, urinary fistula, urethral stricture and urinary incontinence were observed in any of the patients.Conclusion Transvaginal urethral diverticulectomy is safe and effective for the treatment of female urethral diverticulum.

Research advances in signal pathway and molecular mechanism of vascular calcification / 中华老年医学杂志

Vascular disease,such as atherosclerosis and diabetic vasculopathy,is frequently complicated by vascular calcification.Previously believed to be an end-stage process of unregulated mineral precipitation,it is now well established to be a multi-faceted disease.The numerous regulatory signaling pathways that influence vascular calcification,and these pathways are directly or indirectly related to bone remodeling.This review provides a brief overview of the research progresses of vascular calcification-related molecular signaling pathways from the perspective of osteoblastic differentiation.

Study on Ambi-extracting and Inclusion Process of Volatile Oil from Chuanxiong Rhizoma and Angelicae Sinensis Radix / 中国中医药信息杂志

Objective To optimize ambi-extracting and inclusion process of volatile oil from Chuanxiong Rhizoma and Angelicae Sinensis Radix. Methods With yield ratio of volatile oil and ferulic acid content in water extract as evaluation indexes, single factor experiments were used to study the extraction process. With the inclusion rate of volatile oil and yield of inclusion as evaluation indexes, saturated aqueous solution was used to L9(34) orthogonal experiments to reach optimum inclusion process. Results The optimum extraction process of Chuanxiong Rhizoma and Angelicae Sinensis Radix was extracted for 8 hours with 8 folds the amount of water, and without soaking. The validation experiments of extraction of volatile oil and ferulic acid content in water extract were 1.23 mL and 0.387 9 mg/g. The optimum conditions of inclusion process were as follows: volatile oil (mL): β-CD (g) was 1:8;inclusion temperature was 40 ℃; inclusion time was 3 hours. The validation experiments of inclusion rate of volatile oil and yield of inclusion were 74.89% and 72.81%. Conclusion Optimum ambi-extracting and inclusion process of volatile oil from Chuanxiong Rhizoma and Angelicae Sinensis Radix are feasible and stable, witch can provide certain supporting data for preparation production.