Dimethyl fumarate inhibits NLRP3/AIM2 inflammasomes to prevent spleen radiation injury ZHANG / 中国药理学通报

Aim To investigate the protective effect of dimethyl fumarate on spleen injury induced by gamma radiation in mice and the related mechanism. Methods C57BL/6 mice were randomly divided into the blank control group, radiation model group and DMF administration group, which were administered once at 12 h before irradiation and once at 0. 5 h, 12 h, 24 h and 48 h after irradiation. The 30-day survival rate, body weight and pathological injury of spleen were measured after a one-time total body irradiation of Co 7 rays (8 Gy). TUNEL staining was used to detect apoptosis of spleen cells. Enzyme-linked immunoassay ( ELISA) was applied to detect the contents of TNF-a, IL-1 p, IL-6, IL-18, NLRP3 and AIM2 in spleen. Western blot test and immunofluorescence staining test was employed to verify the changes of NLRP3 and AIM2 contents in spleen tissue after irradiation. Results DMF could obviously improve the survival rate of irradiated mice, improve the weight loss of irradiated mice, re-duce the pathological injury of spleen, and inhibit the apoptosis of spleen cells after irradiation. ELISA results showed that DMF could significantly inhibit the increase of spleen inflammatory cytokines TNF-a, IL-lp, IL-6, IL-18 and inflammasome components NL-RP3 and AIM2 induced by irradiation. Western blot and tissue immunofluorescence staining also confirmed that DMF could inhibit the increase of NLRP3 and AIM2 inflammasome protein levels caused by irradiation. Meanwhile, NLRP3 agonist and AIM2 agonist could antagonize the radiation protection effect of DMF on spleen cells. Conclusion DMF can ameliorate spleen injury of Co 7-ray injured mice, and its mechanism is closely related to NLRP3/AIM2 inflamma-somes, which can be used as a potential protective drug for radiation injury.

Imaging measurement and analysis of related indexes of variation of femoral head rotation center / 中国骨伤

OBJECTIVE@#To provide guidance for hip replacement by analyzing the variation of femoral head rotation center in different hip diseases.@*METHODS@#A total of 5 459 patients were collected from March 2016 to June 2021, who took positive and proportional plain films of both hips for various reasons. The relative position between the rotation center of the femoral head and the apex of the greater trochanter was measured. The positive variation is more than 2 mm above the top of the great trochanter, and the negative variation is more than 2 mm below the top of the great trochanter. A total of 831 patients with variation of femoral head rotation center were collected and were divided into 4 groups according to different diseases, and the variation was counted respectively. There were 15 cases in the normal group involving 10 cases of positive variation and 5 cases of negative variation. There were 145 cases of avascular necrosis of femoral head involving 25 cases of positive variation and 120 cases of negative variation. There were 346 cases of congenital hip dysplasia involving 225 cases of positive variation(including 25 cases of typeⅠ, 70 cases of type Ⅱ, 115 cases of type Ⅲ and 15 cases of type Ⅳ), and 121 cases of negative variation(including 50 cases of crowe typeⅠ, 60 cases of typeⅡ, 10 cases of type Ⅲ and 1 case of type Ⅳ). There were 325 cases of hip osteoarthritis group involving 45 cases of positive variation and 280 cases of negative variation.@*RESULTS@#There was significant difference in variation of femoral head rotation center among the four groups(P<0.05). There was significant difference in variation of femoral head rotation center among different types of congenital hip dysplasia(P<0.05). There were significant differences in cervical trunk angle and eccentricity among different variations of femoral head rotation center(P<0.05).@*CONCLUSION@#The variation of femoral head rotation center is related to cervical trunk angle and eccentricity. The variation of femoral head rotation center is an important factor in hip diseases. The variation of femoral head rotation center is different in different hip diseases. Avascular necrosis of the femoral head and osteoarthritis of the hip were mostly negative variations. With the aggravation of congenital hip dysplasia, the variation of femoral head rotation center gradually changed from negative variation to positive variation.The variation of femoral head rotation center should be paid attention to in the preoperative planning of hip arthroplasty. It is of great significance to select the appropriate prosthesis and place the prosthesis accurately.

Evaluación de la Calidad vs precio de comprimidos de Metformina de 850mg de producción nacional e importados, comercializados en Paraguay utilizados para el control de diabetes / Quality vs. price evaluation of national and imported 850 mg metformin tablets marketed for the control of diabetes in Paraguay

La metformina es un fármaco de primera elección, solo o combinado, en el tratamiento inicial de pacientes con diabetes tipo 2, cuya prevalencia a nivel nacional es de 8,0% en hombres y 8,3% en mujeres, con un gasto anual de 283 USD/persona. El estudio fue realizado con el objetivo de evaluar la calidad fisicoquímica y precio de comprimidos de 850 mg de metformina comercializados en nuestro país. Se analizaron medicamentos de producción nacional e importada, conteniendo 850 mg de metformina HCl, tomando como referencia la Farmacopea de los Estados Unidos (USP 38). Para evaluar la calidad de los productos se realizaron ensayos físicos químicos, además de los perfiles de disolución según el medio propuesto por la USP 38. Los resultados obtenidos se encontraron dentro de las especificaciones de valoración, entre 96% y 101% de metformina y los perfiles de disolución entre 70% y 90% de la cantidad declarada en 20 minutos, con una eficiencia de disolución (EF) entre 58% y 93%, mostrando que no existe diferencia estadísticamente significativa (p=0,41). La variación de precios encontrados fue entre 3,6 USD y 8,4 USD. Los productos analizados pueden ser intercambiables en cuanto a la calidad y los perfiles de disolución in vitro, siendo una herramienta para demostrar intercambiabilidad de productos farmacéuticos, buscando el precio más accesible en el mercado nacional y facilitando el tratamiento adecuado sobre todo para la población de escasos recursos manteniendo la calidad y eficacia del mismo(AU)

Simultaneous determination of 18 different amino acids in in vitro fertiIization medium by ultra-high performance liquid chromatography-tandem mass-spectrometry / 中国组织工程研究

BACKGROUND: At present, in the quality control file or technical standards of in vitro fertilization medium, indicators for component contents and detection methods have not yet been defined. To ensure the safety and effectiveness of these products, we should try to establish and improve the quality standards. OBJECTIVE: To establish a method for simultaneously testing 18 kinds of amino acids by ultra-high performance liquid chromatography-tandem mass-spectrometry (UHPLC-MSMS), and to analyze the difference in the content of different amino acids in the medium for different uses. METHODS: Using the UHPLC-MSMS, we detected the indicator components of 18 different amino acids in the in vitro fertilization medium. These amino acids included glycine, leucine, methionine, tyrosine, histidine, threonine, alanine, isoleucine, tryptophan, cystine, lysine, aspartic acid, valine, phenylalanine, valine, serine, glutamic acid, arginine. The UHPLC separation was performed on a SUPELCO Discovery HS F5-3 column (15 cm×2.1 mm, 3 μm) in a gradient elute mode with acetonitrile and water (both containing 0.1% formic acid) as the mobile phase at a flow rate of 0.35 mL/min. The column temperature was 40 ℃. MS detection was performed with multiple-reaction monitoring mode using negative electro spray ionization. RESULTS AND CONCLUSION: The linearity was achieved in the range of 0.25-12.5 mmol/L for the 18 different amino acids. The average recovery rate of these amino acids ranged 86.3% to 125.3%. The relative standard deviation of the precision experiment and the repeatability experiment was less than 4.7%. These findings indicate that this is a sensitive, rapid, accurate, and specific method that can be used for the quality control of in vitro fertilization medium.

Risk Factors of Perioperative Complications in Patients Undergoing Radical Retropubic Prostatectomy: A Ten-year Experience / 华中科技大学学报（医学）（英德文版）

Radical retropubic prostatectomy (RRP) has been one of the most effective treatments for prostate cancer.This study is designed to identify the related predictive risk factors for complications in patients following RRP.Between 2000 and 2012 in Department of Urology,Fudan University Shanghai Cancer Center,421 cases undergoing RRP for localized prostate cancer by one surgeon were included in this retrospective analysis.We reviewed various risk factors that were correlated with perioperative complications,including patient characteristics [age,body mass index (BMI),co-morbidities],clinical findings (preoperative PSA level,Gleason score,clinical stage,pathological grade),and surgeon's own clinical practice.Charlson comorbidity index (CCI) was used to explain comorbidities.The total rate of perioperative complications was 23.2％ (98/421).There were 45/421 (10.7％),28/421 (6.6％),24/421 (5.7％) and 1/421 (0.2％) in grade Ⅰ,Ⅱ,Ⅲ,Ⅳ respectively,and 323/421 (76.8％) cases had none of these complications.Statistical analysis of multiple potential risk factors revealed that BMI ＞30 (P=0.014),Charlson score ≥1 (P＜0.001) and surgical experience (P=0.0252) were predictors of perioperative complications.Age,PSA level,Gleason score,TNM stage,operation time,blood loss,and blood transfusion were not correlated with perioperative complications (P＞0.05).It was concluded that patients' own factors and surgeons' technical factors are related with an increased risk of development of perioperative complications following radical prostatectomy.Knowing these predictors can both favor risk stratification of patients undergoing RRP and help surgeons make treatment decisions.

Traversing the vertical pedicle flap for the treatment of severely buried penis in children / 中华男科学杂志

Objective@#To assess the effect of traversing the vertical pedicle flap (TVPF) for the treatment of severely buried penis in children.@*METHODS@#Totally 43 children with severely buried penis underwentTVPF (n = 21)or modifiedShiraki surgery (control, n = 22) in our hospitalfrom February to December 2014. Wecompared the operation time, intra-operation blood loss, foreskin swelling time, and parents' satisfaction with penile appearance between the two groups.@*RESULTS@#No statistically significant differences were observed between the TVPFand control groups in the operation time (［45.0 ±6.8］ vs ［42.0 ±5.3］ min, P>0.05) or intra-operation blood loss(［5.0 ±1.2］ vs ［6.0 ±0.8］ ml, P>0.05). The average foreskin swelling time was markedly shorter in the TVPFgroup than in the control (［9.0 ±2.3］ vs ［15.0 ±4.8］ d, P<0.05)and the parents' satisfaction with penile appearancewas higher in the former than in the latter (95.23vs31.81 %, P<0.05). The elastic bandages were removedfor all the patientsat 3 days postoperatively, and 3 to 6-month follow-up revealed no penile retraction or relapse.@*CONCLUSIONS@#The method of traversing the vertical pedicle flap is a feasible surgical option for the treatment of severely buried penis in children, which can make a rational use of the foreskin,remove the tight ring, and achieve a satisfactory appearance of the penis.

Maternal outcomes in pregnant women with pernicious placenta previa / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To analyze the maternal outcomes of pregnant women with pernicious placenta previa (PPP).</p><p><b>METHODS</b>Clinical data of 470 patients with placenta previa admitted in Women's Hospital Zhejiang University School of Medicine from August 2012 to August 2014 were collected and retrospectively analyzed. The patients were divided into pernicious group(n=101) and non-pernicious group(n=369) according to the history of cesarean section and location of placenta attached to the uterine. The general profiles, maternal outcomes of two groups were compared.</p><p><b>RESULTS</b>The age, gravidity and rate of recurrent cavity surgery of pernicious group [(32.5 ± 4.1) y, 3.4 ± 1.2, 28.7%] were higher than those of non-pernicious group [(30.7 ± 4.5) y, 2.1 ± 1.4,13.6%] (P<0.05). The gestational age of pernicious group was (35.6 ± 2.7) weeks, less than that of non-pernicious group [(36.7 ± 2.7) weeks, P<0.001]. Rate of postpartum massive hemorrhage, rate of blood transfusion, rate of placental implantation and hysterectomy in pernicious and non-pernicious group were 29.7%, 35.6%, 27.7%, 11.9% and 8.1%, 10.8%, 5.7%, 0.8%, respectively (P<0.05). Multiple regression analysis showed that placenta accrete was significantly associated with postpartum massive hemorrhage in pernicious group (P<0.05).</p><p><b>CONCLUSION</b>The awareness of the danger of pregnant women with PPP before operation and paying more attention to antenatal care are key measures to decrease the adverse maternal outcomes of pregnant women with placenta previa.</p>

Effects of xylooligosaccharide-sugar mixture on glycemic index (GI) and blood glucose response in healthy adults / 한국영양학회지

PURPOSE: The objective of this study was to investigate the effects of xyloologosaccharide (XOS)-sugar mixture on glycemic index (GI) and blood glucose in human subjects. METHODS: Randomized double-blind cross-over studies were conducted to examine the effect of sucrose with 14% xyloologosaccharide powder (Xylo 14) and sucrose with 20% xylooligosaccharide powder (Xylo 20) on GI and postprandial glucose response at 15, 30, 45, 60, 90, and 120 min. RESULTS: GIs of Xylo 14 and Xylo 20 were 60.0 +/- 23.5 classified within medium GI range, and 54.3 +/- 17.7 within low GI range, respectively. Xylo 14 and Xylo 20 showed significantly lower area under the glucose curve (AUC) for 0-15 min (p = 0.0113), 0-30 min (p = 0.0004), 0-45 min (p < 0.0001), 0-60 min (p < 0.0001), 0-90 min (p < 0.0001), and 0-120 min (p = 0.0001). In particular, compared with glucose, the blood glucose levels of Xylo 14 and Xylo 20 were significantly lower at every time point between 15 and 120 min. CONCLUSION: The results of this study suggested that Xylo 14 and Xylo 20 had an acute suppressive effect on GI and the postprandial glucose surge.

Effects of short-term supplementation of erythritol-salt on urinary electrolyte excretion in rats / 한국영양학회지

PURPOSE: This study was conducted in order to investigate the diuretic effects of Erythritol (ET) salt on urinary electrolyte excretion in Sprague-Dawley Rats. METHODS: Animals were divided into two groups: Salt group (n = 7) and Salt + ET fed group (n = 7). Animals were provided food and water ad libitum. Supplements were administered orally to animals for one week. RESULTS: Body weights were not statistically different between groups either on Day 1 or Day 7. However, water consumption of the Salt + ET group was significantly higher than that of the Salt group on Day 1 and Day 7. Urine volume of the Salt + ET group was approximately 27% and 38% higher than that of the Salt group on Day 1 and Day 7. In addition, we found that the total amounts of urinary electrolytes, such as sodium and potassium, of the Salt + ET group were significantly higher than those of the Salt group on Day 7. We also found that serum electrolyte concentrations did not differ between two groups. These results demonstrated that salt intake with ET was effective in increasing urinary electrolyte excretion, which might be caused by higher water intake and diuretic effect inhibiting reabsorption of water, sodium, and potassium in renal tubules. CONCLUSION: The results suggest that short-term supplementation of ET salt can be a potential diuretic agent by inhibiting sodium and potassium reabsorption and inducing loss of water.

Case-control study on therapeutic effects of Rigidfix cross pins combined with Intrafix pins for the reconstruction of anterior or posterior cruciate ligament under arthroscopy / 中国骨伤

<p><b>OBJECTIVE</b>To evaluate therapeutic effects of Rigidfix cross pins combined with Intrafix pins for the reconstruction of anterior or posterior cruciate ligament under arthroscopy.</p><p><b>METHODS</b>From January 2009 to June 2010,34 patients with anterior or posterior cruciate ligament injuries were divided into two groups : group A and group B. There were 24 patients in group A, including 19 males and 5 females,with an average age of (31.83±9.57) years old. The patients in group A were treated with anterior cruciate ligament reconstruction under arthroscopy; Rigidfix cross pins and Intrafix pins were used to fix femoral and tibial side respectively. Among the 10 patients in group B, 8 patients were male and 2 patients were female, with an average age of (27.20+7.59) years old. The patients in group B were treated with posterior cruciate ligament reconstruction under arthroscope; Intrafix pins and Rigidifix cross pins were used to fix femoral and tibial side sepectively. The drawer test and Lachaman test were used to evaluate postoperative knee stability. All the patients were followed up at least 18 months. Lysholm and Tegner knee scores were used to evaluate the clinical therapeutic effects.</p><p><b>RESULTS</b>All the 34 patients were followed up, and the duration ranged from 18 to 26 months,with an average of (20.79±2.39) months. All the patients obtained good pain relief and knee stability. In group A,Lysholm scores significantly increased from 43.04±7.57 preoperatively to 85.41±4.68, 92.50±3.05, and 93.45±2.57 at 6,12, and 18 months postoperatively; Tegner scores significantly increased from 2.62±0.92 preoperatively to 7.45±1.14, 8.58±0.77, and 8.95±0.55 at 6, 12, and 18 months postoperatively. In group B,Lysholm scores significantly increased from 46.20±8.27 preoperatively to 86.40±5.14,90.40±2.67,and 92.00±3.85 at 6,12,and 18 months postoperatively ;Tegner scores significantly increased from 2.00±0.66 preoperatively to 7.10±0.99, 8.60±0.84, and 8.80±0.42 at 6,12, and 18 months postoperatively. There were no differences in Lysholm and Tegner scores between group A and B at different times during follow-up. Lysholm scores of all patients significantly increased from 43.97±7.79 preoperatively to 85.70±4.76,91.88±3.06,and 93.02±3.01 at 6,12,and 18 months postoperatively. Tegner scores of all patients significantly increased from 2.44±0.89 preoperatively to 7.35±1.09, 8.58±0.78, and 8.91±0.51 at 6,12,and 18 months postoperatively. During the follow-up period,there were no serious immunological rejection and complications.</p><p><b>CONCLUSION</b>Reconstruction of anterior or posterior cruciate ligament under arthroscopy with Rigidfix cross pins and Intrafix pins fixation is feasible therapy for anterior or posterior cruciate ligament injuries, and the fixation is rigid. The therapy restores knee stability and provides a satisfactory short-term results.</p>

Minimally invasive percutaneous osteosynthesis for the treatment of 53 patients with complex ankle fractures / 中国骨伤

<p><b>OBJECTIVE</b>To explore the surgical method and its clinical effects of minimally invasive osteosynthesis on the treatment of complex ankle fractures.</p><p><b>METHODS</b>From January 2007 to December 2011, 53 patients with complex ankle fractures were treated with minimally invasive osteosynthesis. There were 31 males and 22 females, with an average age of 38.2 years old (ranged, 18 to 65). According to the system of Lauge-Hansen, 32 fractures were supination external rotation injury (grade WV), 13 fractures were pronation external rotation (grade III or IV), 5 fractures were pronation abduction (grade III); and 3 fractures can not be classified due to serious comminution fracture of fibula. According to the system of Denis-Weber, there were 4 cases with type A, 34 cases with type B and 15 cases with type C. Seven cases were open fractures. The duration from injuries to operation ranged from 2 hours to 14 days with an average of 5 days. The sequence of reduction and fixation of ankle fractures was firstly posterior malleolus, then medial malleolus and lateral malleolus, and inferior tibiofibular syndesmosis lastly. The fractures of posterior malleolus were reduced and fixed through anterior ankle approaches; the fractures of medial and lateral malleolus were percutaneously fixed with bolts or blade plate or tensile force band; and inferior tibiofibular syndesmosis were firmly fixed if necessary. Baird-Jackson scoring system was used to evaluate clinical effects.</p><p><b>RESULTS</b>Forty-eight patients were followed up from 10 to 36 months with an average of 13 months. The fractures got healing with an average time of 12 weeks (ranged, 10 to 18). According to the Baird-Jackson scoring system, the mean score of ankle function was 94.7 +/- 4.2, and 28 cases obtained excellent results, 15 good, 3 fair and 2 poor. One case experienced superficial infections and was cured by changing dressings, 2 cases experienced fixed syndesmosis screw breakage.</p><p><b>CONCLUSION</b>The surgical method of minimally invasive osteosynthesis can ensure the anatomical join restoration, protect the blood supply of fracture end, rebuild the function of ankle joint, obtain satisfactory clinical results in treating complex ankle fractures.</p>

Effect of adenovirus-mediated hepaCAM gene expression on cell cycle of bladder cancer cell lines / 第二军医大学学报

Objective: our study was to investigate the effect of hepaCAM gene on cell cycle of bladder cancer cell line T24 and BIU-87. Method: Adenovirus vector with hepaCAM was infected into T24 and BIU-87 cells. The expression of hepaCAM mRNA and protein were measured byRT-QPCR and Western-blot. Immunofluorescence detected the cellular localization of hepaCAM. The distribution of cell cycle was analyzed by FCM. The protein expression of cyclinD1 was measured by Westein-blot. Result: The expression of hepaCAM mRNA and protein was increased in two cell lines infected with pAdH5-hepaCAM. The G0/G1 cycle was increased in infected cells, and the protein expression of cyclinD1 was decreased in same cells. Immunofluorescence revealed that hepaCAM protein localized on cytoplasm in well-spread cells, otherwise it localized on the junction of each cell. Conclusion: T24 and BIU-87 cells that infected pAdH5- hepaCAM was blocked in G0/G1 cycle, and it can decreased the protein expression of cyclinD1.

Differential diagnosis of isolated calf muscle vein thrombosis and gastrocnemius hematoma by high-frequency ultrasound / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Differential diagnosis of isolated calf muscle vein thrombosis (ICMVT) and gastrocnemius hematoma is essential for early identification of deep vein thrombosis (DVT). This study aimed to investigate the diagnostic value of high-frequency color Doppler ultrasound for differential diagnosis of ICMVT and gastrocnemius hematoma.</p><p><b>METHODS</b>A retrospective case series of 35 ICMVT (M:F, 21:14; mean age (64.5 ± 10.6) years) and 23 gastrocnemius hematoma (M:F, 16:7; mean age (75.4 ± 11.8) years) patients with bilateral/unilateral lower limb pain was conducted between January 2006 and September 2012. Characteristics and the morphology of high-frequency color Doppler ultrasonography of the lower limb deep vein, great saphenous vein, calf muscles, skin, and soft tissue were examined.</p><p><b>RESULTS</b>ICMVT hypoechoic signals were characterized by long, tube-like masses on longitudinal sections and oval masses on transverse sections, with apparent muscle thrombosis boundaries, distal and proximal venous connections, and, often, lower limb DVT. Gastrocnemius hematoma hypoechoic signals were characterized by large volumes, enhanced posterior hematoma echo, hyperechoic muscle boundaries, no hematoma blood flow, and no DVT, and clear differences in trauma/exercise- and oral anticoagulant-induced hematomas were readily apparent. According to the measurement, the ratio of long diameter/transverse diameter (D/T) in ICMVT patients was about less than 2.0, whereas in gastrocnemius hematoma patients the ratio was more than 2.0. Early stage isoechoic and hypoechoic signals were detected with gradually increasing ovular anechoic areas. Partial muscle fibers in the hematoma due to muscle fractures were apparent.</p><p><b>CONCLUSION</b>High-frequency color Doppler ultrasound was found to be a sensitive and reliable method for differential diagnosis of ICMVT and gastrocnemius hematoma due to trauma and exercise or prolonged oral anticoagulant use.</p>

Influence of hepatocyte cell adhesion molecule on gene expression profile of human bladder transitional cell carcinoma cell line / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the changes of gene expression file in transitional cell carcinoma of bladder after hepatocyte cell adhesion molecule(hepaCAM) overexpression.</p><p><b>METHODS</b>Affymetrix Human Genome U133 Plus 2.0 Array was used to investigate the changes of gene expression profile between adenovirus-green fluorescent protein(GFP) -hepaCAM group and GFP group in transitional cell carcinoma of bladder EJ cells.Significant Analysis of Microarray(SAM) was used to screen the differentially expressed genes, DAVID software was used to conduct gene ontology analysis and wikiPathway analysis based on the differentially expressed genes. Reverse transcription-polymerase chain reaction and Western blot were applied to verify microarray data.</p><p><b>RESULTS</b>Compared with the GFP group, a total of 2469 genes were up-regulated or down-regulated by more than 2 times in the GFP-hepaCAM group. Among these genes, 1602 genes were up-regulated and 867 were down-regulated.Most of the differentially expressed genes were involved in the function of cell proliferation and cell cycle regulation. The mRNA expressions of nibrin, liver kinase B1, and cyclin D1 detected by reverse transcription-polymerase chain reaction in three different bladder cancer cell lines were consistent with the microarray data.The protein expressions of nibrin and liver kinase B1 in these three cell lines measured by Western blot were consistent with the mRNA expression.</p><p><b>CONCLUSIONS</b>HepaCAM can alter the gene expression profile of bladder cancer EJ cells. The well-known anti-tumor effect of hepaCAM may be mediated by regulating the gene expression via multiple pathways.</p>

Antithrombotic or Anti-Platelet Agents in Patients Undergoing Permanent Pacemaker Implantation

BACKGROUND AND OBJECTIVES: The growing implantations of electrophysiological devices in the context of increasing rates of chronic antithrombotic therapy in cardiovascular disease patients underscore the importance of an effective periprocedural prophylactic strategy for prevention of bleeding complications. We assessed the risk of significant bleeding complications in patients receiving anti-platelet agents or anticoagulants at the time of permanent pacemaker (PPM) implantation. SUBJECTS AND METHODS: We reviewed bleeding complications in patients undergoing PPM implantation. The use of aspirin or clopidogrel was defined as having taking drugs within 5 days of the procedure and warfarin was changed to heparin before the procedure. A significant bleeding complication was defined as a bleeding incident requiring pocket exploration or blood transfusion. RESULTS: Permanent pacemaker implantations were performed in 164 men and 96 women. The mean patient age was 73+/-11 years old. Among the 260 patients, 14 patients took warfarin (in all of them, warfarin was changed to heparin at least 3 days before procedure), 54 patients took aspirin, 4 patients took clopidogrel, and 25 patients took both. Significant bleeding complications occurred in 8 patients (3.1%), all of them were patients with heparin bridging (p<0.0001). Heparin bridging markedly increased the length of required hospital stay when compare with other groups and the 4 patients (1.5%) that underwent the pocket revision for treatment of hematoma. CONCLUSION: This study suggests that hematoma formation after PPM implantation was rare, even among those who had taken the anti-platelet agents. The significant bleeding complications frequently occurred in patients with heparin bridging therapy. Therefore, heparin bridging therapy was deemed as high risk for significant bleeding complication in PPM implantation.

Mechanism of GLI3 gene transcription regulation in idiopathic congenital talipes equinovarus / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the mechanism of transcription regulation of GLI3 gene in idiopathic congenital talipes equinovarus.</p><p><b>METHODS</b>pGL3-Gli3 luciferase report vectors were constructed, and the activity of Gli3 promoter was explored. A P-Match software was used to analyze the sequence upstream of the transcription start site of rat Gli3 gene, which was subsequently verified with chromatin immunoprecipitation assay (CHIP) and electrophoretic mobility shift assay (EMSA). Expression of the Gli3 gene was analyzed in L6 cells transfected with Hoxd13 small interference RNA(siRNA) and Hoxd13 expression vectors.</p><p><b>RESULTS</b>The 5' region of rat Gli3 gene contains two potential binding sites for the Hoxd13 protein. CHIP and EMSA assays both confirmed that Hoxd13 can directly bind with site 2. As shown in L6 cells, expression of Gli3 may be enhanced with silencing of Hoxd13, whilst exogenous expression of Hoxd13 can down-regulate transcription of Gli3.</p><p><b>CONCLUSION</b>Hoxd13 can directly regulate the expression of Gli3 gene through a Hoxd13 binding site in the limb of rat embryo.</p>

Possible role of GLI3 gene in the pathogenesis of idiopathic congenital talipes equinovarus / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between GLI3 gene and pathogenesis of idiopathic congenital talipes equinovarus (ICTEV).</p><p><b>METHOD</b>Potential mutations in the coding region of GLI3 were detected among 84 patients with ICTEV by denaturing gradient electrophoresis. Expression of GLI3 in the ICTEV patients' disease tissues was assessed by reverse transcription PCR. Following generation of rat model for ICTEV, mRNA and protein levels of GLI3 were evaluated by real-time PCR and immunohistochemistry and Western blotting.</p><p><b>RESULTS</b>No mutation was found in exons 1 - 8 and 13 of GLI3 gene among the 84 ICTEV patients. No expression of GLI3 gene was detected in the flexor hallucis longus of ICTEV patients or normal controls. Expression of Gli3, in terms of both mRNA and protein, was stronger in the hindlimb of ICTEV rat embryos compared with normal controls.</p><p><b>CONCLUSION</b>Mutation in the coding region of GLI3 may not be responsible for the occurrence of ICTEV. However, there may still be connection between abnormal expression of the gene and pathogenesis of ICTEV.</p>

Progressive Familial Heart Block Type I in a Korean Patient

A 29-year-old man was referred to the emergency department with a complaint of abdominal pain and dizziness. He had experienced two previous syncopal episodes. His family history revealed that his mother and his two uncles had received permanent pacemaker implantation. His initial heart rate was 49 beats per minute. The electrocardiography (ECG) showed atrial flutter and right bundle branch block (RBBB) with left anterior fascicular block (LAFB). On admission, 24-hour Holter showed ventricular pause up to 16 seconds during syncope. Radio frequency catheter ablation (RFCA) of atrial flutter was performed. The ECG revealed bifascicular block (RBBB and LAFB) and first-degree atrioventricular block. He received a permanent pacemaker implantation. His brother's and his sister's ECGs also showed trifascicular block and the pedigree showed autosomal dominant inheritance. This patient was diagnosed with a progressive familial heart block (PFHB) type I. This would be the first report of a PFHB type I case documented in Korea.

Expression of COL9A1 gene and its polymorphism in children with idiopathic congenital talipes equinovarus / 中国当代儿科杂志

<p><b>OBJECTIVE</b>COL9A1 gene is located in the susceptibility region of idiopathic congenital talipes equinovarus (ICTEV) (6q12-13). This study aimed to investigate the expression of the COL9A1 gene and the distribution of single nucleotide polymorphism (SNP) of COL9A1 gene in patients with ICTEV and normal controls.</p><p><b>METHODS</b>Immunohistochemistry was used to detect the expression of COL9A1 in 25 children with ICTEV and 5 normal controls. The frequencies of genotypes and allele of two SNPs in COL9A1 gene rs35470562 and rs1135056 were investigated by PCR-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing in 118 patients with ICTEV and 100 normal controls.</p><p><b>RESULTS</b>The COL9A1 protein expression was significantly higher in 22 (88%) out of 25 children with ICTEV than normal controls. There were significant differences in the frequencies of genotypes and allele of rs1135056 in COL9A1 gene between the ICTEV and the control groups: the G allele frequency was higher, the frequency of AA genotype was lower, and the frequencies of AG and GG genotypes were higher in ICTEV patients than those in healthy controls (P<0.05).</p><p><b>CONCLUSIONS</b>COL9A1 protein is highly expressed in patients with ICTEV and rs1135056, which is located in the coding region of COL9A1 gene, may be associated with the pathogenesis of ICTEV.</p>

Gene diagnosis for spinal muscular atrophy and its application study / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish an effective testing system for gene diagnosis, carrier detection and prenatal diagnosis for spinal muscular atrophy (SMA).</p><p><b>METHODS</b>Twenty-six patients with SMA were directly tested with PCR-RFLP for exon 7 deletion in the SMN1 gene. Carrier detection was carried out with multi-PCR-DHPLC. Amniotic fluid was taken at the middle stage of gestation from pregnant women who had given birth to affected children.</p><p><b>RESULTS</b>Twenty-five out of 26 patients were diagnosed as having SMN1 gene deletion. Fifty-two of their parents were found to be carriers of exon 7 deletion. Eight of 20 fetuses were diagnosed as having SMN1 gene deletion by PCR-RFLP.</p><p><b>CONCLUSION</b>PCR-RFLP and multi-PCR-DHPLC techniques can provide rapid diagnosis for exon 7 deletion detection and carrier detection. PCR-RFLP may also be adapted for prenatal gene diagnosis of exon 7 deletion in SMN1 gene.</p>