[Comparison of two different intramedullary rods combined with Ilizarov external fixation and wrapped autologous iliac bone grafting for the treatment of congenital tibial pseudarthrosis in children].

Objective: To compare the initial clinical efficacy of extensible intramedullary rod fixation and Williams intramedullary rod fixation combined with Ilizarov external fixation and wrapped autologous iliac bone grafting in the treatment of congenital tibial pseudarthrosis in children. Methods: A retrospective analysis was conducted on the clinical data of 60 children with Crawford Ⅳtype congenital pseudarthrosis of the tibia treated with combined surgery at the Orthopedics Department of Hunan Children's Hospital from January 2013 to December 2020.According to different internal fixation methods,patients were divided into the extensible intramedullary rod group (30 cases) and the Williams intramedullary rod group (30 cases). There were 12 males and 18 females in the extendable intramedullary rod group, aged (33.6±6.3) months (range: 18 to 44 months), while there were 10 males and 20 females in the Williams intramedullary rod group, aged (47.8±8.6) months (range: 36 to 66 months). The anteroposterior and lateral views of tibia and fibula and the full length anteroposterior film of both lower limbs were examined to compare the clinical treatment effects of the two groups at 1-,3-,6-,9-, and 12-month after surgery. Independent sample t-test, χ2 test or Fisher exact test was used for inter group comparison. Results: Both groups of children underwent surgery successfully, with postoperative follow-up time greater than 2 years. The extensible intramedullary rod group was followed up for (49.5±6.4) months, while the Williams intramedullary rod group was followed up for (53.7±10.5) months. The initial bone healing time between the broken ends of the tibial pseudarthrosis was (5.1±0.8) months in the extensible intramedullary rod group and (5.0±0.6) months in the Williams intramedullary rod group. There was no statistically significant difference between the two groups (t=0.584, P=0.562). The initial postoperative bone healing rate of the extensible intramedullary rod group was 93.3% (28/30), while that of the Williams intramedullary rod group was 96.7% (29/30). There was no statistically significant difference between the groups (χ2=0.351 P=0.554).The postoperative fracture rate of the extensible intramedullary rod group was 20.0% (6/30), while that of the Williams intramedullary rod group was 16.7% (5/30);Six cases (20.0%) in the extensible intramedullary rod group had unequal limb lengths in both lower limbs after surgery, with a limb length difference of (2.5±1.4)cm (range: 1.5 to 5.2 cm). Eight cases (26.7%) in the Williams intramedullary rod group had a limb length difference of (2.8±1.4)cm (range: 1.8 to 6.0 cm);After surgery, there were 4 (13.3%) cases of proximal tibial valgus deformity in the extensible intramedullary rod group, with an valgus angle range of (12.5±4.9)° (range: 7 °to 18°), and 3 (10.0%) cases in the Williams intramedullary rod group, with an valgus angle of (15.0±6.0)° (range: 9°to 21°). There were 2 (6.7%) cases of ankle valgus deformity in the extensible intramedullary rod group, with an valgus angle of (11.5±4.9)° (range: 8 °to 15°), and 4 (13.3%) cases in the Williams intramedullary rod group, with an valgus angle of (14.8±6.2)° (range: 6 °to 20°). The postoperative activities of the knee and ankle joints in the extensible intramedullary rod group were normal and unrestricted, with 4 cases of extensible intramedullary rod displacement.In the Williams intramedullary rod group, there were 30 cases of postoperative ankle joint stiffness and no displacement of the fixation position of the intramedullary rod.There was no statistically significant difference in postoperative complications between the two groups of children (all P>0.05). Conclusions: The use of both extensible intramedullary rods and Williams intramedullary rods in the combined surgery for congenital tibial pseudarthrosis in children can achieve effective internal fixation results. The initial postoperative bone healing rate is high, and there is no difference in the incidence of postoperative complications between groups. Both internal fixation methods have their own advantages and disadvantages, and suitable internal fixation methods can be selected based on the characteristics of the patient.

[Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development].

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.

[Metagenomic data-analysis reveals enrichment of lipopolysaccharide synthesis in the gut microbiota of atrial fibrillation patients].

Objective: To investigate the functional changes of key gut microbiota (GM) that produce lipopolysaccharide (LPS) in atrial fibrillation (AF) patients and to explore their potential role in the pathogenesis of AF. Methods: This was a prospective cross-sectional study. Patients with AF admitted to Beijing Chaoyang Hospital of Capital Medical University were enrolled from March 2016 to December 2018. Subjects with matched genetic backgrounds undergoing physical examination during the same period were selected as controls. Clinical baseline data and fecal samples were collected. Bacterial DNA was extracted and metagenomic sequencing was performed by using Illumina Novaseq. Based on metagenomic data, the relative abundances of KEGG Orthology (KO), enzymatic genes and species that harbored enzymatic genes were acquired. The key features were selected via the least absolute shrinkage and selection operator (LASSO) analysis. The role of GM-derived LPS biosynthetic feature in the development of AF was assessed by receiver operating characteristic (ROC) curve, partial least squares structural equation modeling (PLS-SEM) and logistic regression analysis. Results: Fifty nonvalvular AF patients (mean age: 66.0 (57.0, 71.3), 32 males(64%)) were enrolled as AF group. Fifty individuals (mean age 55.0 (50.5, 57.5), 41 males(82%)) were recruited as controls. Compared with the controls, AF patients showed a marked difference in the GM genes underlying LPS-biosynthesis, including 20 potential LPS-synthesis KO, 7 LPS-biosynthesis enzymatic genes and 89 species that were assigned as taxa harbored nine LPS-enzymatic genes. LASSO regression analysis showed that 5 KO, 3 enzymatic genes and 9 species could be selected to construct the KO, enzyme and species scoring system. Genes enriched in AF group included 2 KO (K02851 and K00972), 3 enzymatic genes (LpxH, LpxC and LpxK) and 7 species (Intestinibacter bartlettii、Ruminococcus sp. JC304、Coprococcus catus、uncultured Eubacterium sp.、Eubacterium sp. CAG:251、Anaerostipes hadrus、Dorea longicatena). ROC curve analysis revealed the predictive capacity of differential GM-derived LPS signatures to distinguish AF patients in terms of above KO, enzymatic and species scores: area under curve (AUC)=0.957, 95%CI: 0.918-0.995, AUC=0.940, 95%CI 0.889-0.991, AUC=0.972, 95%CI 0.948-0.997. PLS-SEM showed that changes in lipopolysaccharide-producing bacteria could be involved in the pathogenesis of AF. The key KO mediated 35.17% of the total effect of key bacteria on AF. After incorporating the clinical factors of AF, the KO score was positively associated with the significantly increased risk of AF (OR<0.001, 95%CI:<0.001-0.021, P<0.001). Conclusion: Microbes involved in LPS synthesis are enriched in the gut of AF patients, accompanied with up-regulated LPS synthesis function by encoding the LPS-enzymatic biosynthesis gene.

[Mid-to-long term clinical outcomes and predictors after anterior cruciate ligament revision].

OBJECTIVE: To assess the mid-to-long term clinical outcomes after anterior cruciate ligament (ACL) revision surgery and to analyze their predictors. METHODS: The medical records of 235 patients undergoing ACL revision surgery between Jan. 2001 and Dec. 2015 at Department of Sports Medicine, Peking University Third Hospital were reviewed. Data were collected including demographic information, information related to revision surgery (time and cause of graft failure, date of revision surgery, surgical technique, combined injuries and management, etc.), as well as information related to primary ACL reconstruction (time, cause and mechanism of first-time ACL rupture, date of primary ACL reconstruction, surgical technique, combined injuries and management, etc.). Patients were followed up at least 2 years after revision surgery for clinical outcomes [Tegner score, Lysholm score, and International Knee Documentation Committee (IKDC) subjective knee score]. Post-revision surgeries on the involved knee and the contralateral knee joint were also documented. Multivariate regression model was used to analyze the predictors of clinical outcomes after ACL revision surgery. RESULTS: A total of 166 (70.63%) patients were followed up at a mean of (4.44±2.40) years (2.03-14.63 years). Clinical outcomes improved significantly at the last follow-up from pre-operative level, with the Lysholm, Tegner, and IKDC scores improving from 70.51±21.25, 3.39±1.77, 63.78±15.04 to 88.64±14.36, 4.67±1.739, 80.23±13.31 (P < 0.05), respectively. Three (1.81%) patients experienced infection while 39 (23.49%) patients underwent surgery after revision surgery during the follow-up. Compared with that those occurred during sports, graft failure that occurred during daily activities or due to surgical technical errors that led to poorer clinical outcomes, with the Lysholm, Tegner, and IKDC scores of 9.90 (95%CI: 1.49-18.31), 1.41 (95%CI: 0.10-2.72), 10.35 (95%CI: 0.17-20.54), and 8.53 (95%CI: 1.31-15.75), 1.28 (95%CI: 0.14-2.43), 9.39 (95%CI: 1.03-17.74) lower, respectively. Compared with antero-medial portal, transtibial technique for placement of the femoral bone tunnel showed poorer Lysholm scores of 11.18 (95%CI: 4.73-17.63, P=0.001). Concurrent repair of medial meniscus yielded higher IKDC scores of 11.06 (95%CI: 1.21-20.92, P=0.029) than those with intact medical meniscus. Other factors showed no significant effect. CONCLUSION: ACL revision surgery is able to restore knee stability and improve knee function. Graft failure caused by sports, concurrent repair of medical meniscus and antero-medial portal technique predicts better outcomes after revision surgery.

[Efficacy and safety of Kangbingdu granules in the treatment of influenza: a randomized, double-blind, double-dummy, positive-drug parallel control multicenter clinical trial].

Objective: To observe the efficacy and safety of Kangbingdu granules (KBD) in the treatment of influenza. Methods: A multicenter, randomized, double-blind, double-dummy, and positive-drug parallel control trial was conducted in 27 Grade ⅢA hospitals in China and the subjects were randomly assigned to the KBD test group or the oseltamivir phosphate capsule control group at a ratio of 1∶1. 200 subjects were planned to be enrolled in each group. The experimental group was given KBD (18g each time, 3 times a day) and oseltamivir phosphate simulator orally, while the control group was given oseltamivir phosphate capsule (75 mg each time, twice a day) and KBD simulator orally for 5 days. The primary efficacy indicators included the remission time of major clinical symptoms and the time of complete defervescence. The secondary efficacy indicators included dosage of acetaminophen, the change of traditional Chinese medicine (TCM) syndrome score and the remission time of other important clinical symptoms. The efficacy of KBD in the test group and Oseltamivir phosphate control group were compared. Adverse events or adverse reactions were observed at the same time to evaluate the safety of KBD Granules. Results: A total of 393 subjects from 27 Grade ⅢA hospitals in China were enrolled. The experimental group included 195 subjects and 191 subjects (97.95%) completed the trial, While the control group included 198 subjects and 195 subjects (98.48%) completed the trial. There was no significant difference in the shedding rate and rejection rate between the two groups (P>0.05). In the Full Analysis Set (FAS), the mean age of the experimental group was (34.9±14.4) years old, with 83 males (42.78%). The mean age of the control group was (33.3±13.5) years old, with 78 males (39.59%). There were no statistically significant differences between the two groups in demographic data, physical examination, viral pathogen detection, total score of TCM syndromes and scores of each symptom at baseline (P>0.05). In the FAS, the remission time M (Q1, Q3) of major clinical symptoms was 3.0 (3.0, 4.0) days in the experimental group and 3.0 (3.0, 4.0) days in the control group, and the difference was not statistically significant (P>0.05). The time M (Q1, Q3) of complete defervescence was 34.0 (20.3, 49.0) hours in the experimental group and 36.5 (19.6, 48.8) hours in the control group, and the difference was not statistically significant (P>0.05). KBD granules had the same effect as Oseltamivir phosphate capsule (P>0.05) in terms of acetaminophen dosage, TCM syndrome effect and disappearance rate of most important clinical symptoms. Meanwhile, the disappearance rate of dizziness and chest distress on day 3 in the KBD granules group was better than that of oseltamivir phosphate capsule (P<0.05). Conclusion: KBD granules have the same efficacy as Oseltamivir Phosphate capsule in the treatment of influenza and the drug safety is good.

[The mid-term and long-term results of endovascular treatment of C/D aorto-iliac artery occlusive disease].

Objective: To evaluate the safety and efficacy of the endovascular treatment for Trans-Atlantic Society Consensus (TASC) C/D aorto-iliac artery occlusive disease in mid-term and long-term follow-up. Methods: A total of 172 patients diagnosed with TASC C/D aorto-iliac lesions who received endovascular treatment from Chinese PLA General Hospital from January 2008 to January 2018 were retrospectively analyzed. The cohort was separated into covered stent group (61 cases), bare stent group (88 cases) and composite stent group (23 cases). Primary endpoint was primary patency, and secondary endpoints were freedom from target lesion revascularization (TLR) rate, major amputation rate and all cause death rate. Results: There were no significant difference of peri-operational all cause death rate and complication rate among all the groups(all P>0.05). Kaplan-Meier was used to analyze the primary patency at 5 year, which were 82.1%, 78.3% and 71.9% in covered stent group, bare stent group and composite stent group (χ(2)=3.47, P>0.05) , and primary patency at 10 year were 68.7%, 52.6% and 58.1%, respectively (χ(2)=18.91, P<0.05) . Freedom from TLR at 5 year were 88.5%, 82.6% and 78.1% in covered stent group, bare stent group and composite stent group (χ(2)=2.93, P>0.05) , and freedom from TLR at 10 year were 74.1%, 70.6% and 65.9%, respectively (χ(2)=6.16, P>0.05) . Diabetes, smoking, TASC D lesions and bare stent were identified as predictors of restenosis by logistic regression analysis. Conclusions: These results suggest that endovacular treatment is safe and effective to complex TASC C/D aorto-iliac artery occlusive disease in mid-term and long-term follow-up. The application of covered stent might further improve the long-term patency.

Possible scenario of forming a catalyst layer for proton exchange membrane fuel cells.

Ionomer in the catalyst layer provides an ion transport channel which is essential for many electrochemical devices. As the ionomer and electrochemical catalyst are packed together in the catalyst layer, it is difficult to have a clear image of the ionomer distribution in the catalyst layer and how the ionomer is in contact with Pt or carbon. A highly dispersed catalyst was deposited on the TEM SiN grid directly using the same (ultrasonic spray) or a similar way as the catalyst was deposited on the membrane. By analyzing the distribution of various elements (C, F, S, Pt etc.), we found that the ionomer may coexist in the catalyst layer in three ways: ionomer covered Pt particles due to the relatively strong interaction between Pt and the ionomer; ionomer covered C particles; packed free ionomer in between the aggregated catalyst particles. The results show that the ionomer is prone to covering the surface of Pt particles as further evidenced by the accelerated degradation test (ADT).

[Brain protection strategy and effectivity in pulmonary thromboendarterectomy].

Objective: To summarize the experience and effectivity of brain protection in 25 patients who suffered from chronic thromboembolic pulmonary hypertension (CTEPH) and received pulmonary thromboendarterectomy (PTE) under deep hypothermic circulatory arrest. Methods: Retrospective analysis of 25 PTE surgeries in our center from December 2016 to August 2018. All cases were completed underdeep hypothermic circulatory arrest. Standard brain protections were strictly executed, including: balanced and controlled extracorporeal circulation cooling, cerebral oxygen saturation (rSO(2)) monitoring, strictly control of circulatory arrest time, and etc. The neurological adverse events during the perioperative period were recorded and statistically analyzed, and the intelligence level and cognitive function of the patients were evaluated by MMSE scale and MoCA scale before surgery and discharge. Results: All the 25 patients successfully completed the surgery, and 1 patient (4%) died of postoperative infection. The mean pulmonary arterial pressure decreased from (52.9±16.7) mmHg before surgery to (23.6±8.1) mmHg immediately after surgery (t=10.01, P<0.01), and(20.7±7.9) mmHg at 3 months follow-up (t=10.73, P<0.01). Pulmonary vascular resistance decreased from 975.4 (788.6-1 292.8) dyn·s·cm(-5) to 376.1 (283.6-565.5) dyn·s·cm(-5) (Z=5.34, P<0.01). Neurological complications occurred in 3 patients during the perioperative period, including 2 patients with hypoxic encephalopathy, and 1 patient with cerebral hemorrhage. All 3 patients fully recovered before discharge. Univariate analysis showed that the duration of rSO(2)<40% and the maximum decrease rate of rSO(2) from baseline were significantly correlated with postoperative neurological damage. Multivariate analysis showed only time of rSO(2)<40% was significantly correlated with postoperative neurological damage. There was no significant difference in MMSE and MoCA score before and after surgery (P>0.05). Conclusions: Adequate brain protection measures are essential to reduce the neurological complications of PTE surgery. Real-time intraoperative monitoring of rSO(2) and strict control of circulatory arrest time can further reduce the occurrence of neurological damage.

[Surgical technique and mid-and-long curative effect analysis of primary repair of chronic Achilles tendon rupture].

Objective: To examine the surgical method and clinical outcome of primary repair of chronic Achilles tendon rupture. Methods: From March 2012 to August 2017, clinical data of 35 consecutive patients with chronic Achilles tendon rupture who were treated with primary repair by the same doctor at Department of Sports Medicine, Peking University Third Hospital were retrospectively analyzed.There were 29 males and 6 females with age of (41.0±9.3)years(range:29-65 years), the follow-up period was (45.6±17.2) months(range:17-82 months). All the patients had unilateral tendon rupture with 22 cases on the left and 13 cases on the right.The preoperative and postoperative Visual Analogue Scale(VAS), American Orthopaedic Foot and Ankle Society Ankle-Hindfoot Score(AOFAS), the Victorian Institute of Sport Assessment-Achilles(VISA-A), the Achilles tendon Total Rupture Score(ATRS)and the Tegner Activity Score of patients were collected and compared by paired-t test. Results: Among 47 patients with chronic Achilles tendon rupture, 35 patients were followed up for (45.6 ± 17.2)months(range: 17-28 months). No serious postoperative complications such as infection or nerve damage and rerupture outcomes were reported. At the last follow-up,the VAS decreased from 1.0(2.0) (M(Q(R))) preoperative to 0.0(0.8)(Z=-3.586, P=0.00), AOFAS increased from 64.3±12.5 to 97.0±5.0(t=-14.359,P<0.001), VISA-A increased from 51.3± 9.8 to 87.8±18.0(t=- 17.656, P=0.00), Tegner increased from 0.9±0.3 to 4.6±1.7(t=- 12.524, P=0.00)and ATRS increased from 40.0±3.5 to 97.9±3.9(t=-64.133,P=0.00). Twenty-eight patients (80.0%) had returned to their preinjury activity levels, and 7 patients (20.0%) no longer participate in recreational sports. According to Arner-Lindholm curative effect evaluation criteria, 32 cases(91.4%)gained the excellent results, 1 case(2.9%) of good and 2 cases(5.7%) bad, and the percentage of the cases with the excellent or good results was 94.3%. All except 2 patients with bad results could perform a single-limb heel rise painlessly. Conclusions: Primary repair is an efficient approach for chronic Achilles tendon rupture. The mid-and-long curative effect is satisfactory and stable.Compared with other surgical techniques, operation is relatively simple and economical. The primary repair is considerably safe, with few serious complications such as infection or nerve damage and reruptures.

Inhibition of vascular endothelial growth factor in young adult mice causes low bone blood flow and bone strength with no effect on bone mass in trabecular regions.

OBJECTIVE: To determine the effect of an antibody to vascular endothelial growth factor (VEGF) on bone blood flow, bone strength, and bone mass in the young adult mouse. METHODS: Ten-week-old male BALB/cJ mice were body weight-randomized into either a rodent anti-VEGF monoclonal antibody (anti-VEGF, B20-4.1.1; 5 mg/kg 2×/wk.; n = 12) group or a vehicle (VEH; n = 12) group. After 42 days, mice were evaluated for bone blood flow at the distal femur by 18F-NaF-PET/CT and then necropsied. Samples from trabecular and cortical bone regions were evaluated for bone strength by mechanical testing, bone mass by peripheral quantitative computed tomography (pQCT), and micoarchitecture (MicroCT). Hydration of the whole femur was studied by proton nuclear magnetic resonance relaxometry (1H NMR). RESULTS: Distal femur blood flow was 43% lower in anti-VEGF mice than in VEH mice (p = 0.009). Ultimate load in the lumbar vertebral body was 25% lower in anti-VEGF than in VEH mice (p = 0.013). Bone mineral density (BMD) in the trabecular region of the proximal humeral metaphysis by pQCT, and bone volume fraction and volumetric BMD by MicroCT were the same in the two groups. Volume fraction of bound water (BW) of the whole femur was 14% lower in anti-VEGF than in VEH mice (p = 0.003). Finally, BW, but not cortical tissue mineral density, helped section modulus explain the variance in the ultimate moment experienced by the femur in three-point bending. CONCLUSION: Anti-VEGF caused low bone blood flow and bone strength in trabecular bone regions without influencing BMD and microarchitecture. Low bone strength was also associated with low bone hydration. These data suggest that bone blood flow is a novel bone property that affects bone quality.

Multilocus sequence typing analysis of Candida africana from vulvovaginal candidiasis.

BACKGROUND: Candida africana is distributed worldwide and colonized in human genitalia and cause mainly vulvovaginal candidiasis (VVC). We report the multilocus sequence typing (MLST) analysis of C. africana from VVC. METHODS: MLST analysis of 43 strains of C. africana, which were isolated from vaginal specimens of patients with VVC, was performed. The enzymatic activity of phospholipase, esterase and haemolysis enzyme production was evaluated.The level of virulent genes and resistant genes mRNA expression was determined by using real-time PCR. Antifungal susceptibilities of the isolates were assayed by using the broth microdilution method. The statistical of the results was determined by the T test and Pearson chi-squared test. RESULTS: The MLST analysis revealed a substantial degree of genetic homogeneity. The DST782 and DST182 were the main MLST genotypes in C. africana. All the patients were symptomatic and with a high mycological cure rate when treated with commonly used antifungal agents.There were statistically significant differences in biofilm formation and phospholipase activity between C. africana and C.albicans. The level of virulent genes and resistant genes mRNA expression was higher in fluconazole-resistant strains. All C. africana isolates were susceptible to fluconazole, itraconazole, voriconazole, caspofungin, and micafungin. These isolates also exhibited low MICs to amphotericin B, flucytosine, and posaconazole. CONCLUSIONS: Candida africana appear to be with a low level of sequence variation in MLST loci. Candida africana, a lower virulence candida, is susceptible to commonly used antifungal agents. This paper was presented at the conference of 8th Trend in Medical Mycology (6-9 October 2017, Belgrade, Serbia) and was published on conference abstract.

[Screening of pathogenic genes in a Chinese familial dilated cardiomyopathy pedigree from Inner Mongolia].

Objective: Screen the pathogenic genes of a pedigree with clinical manifestation of familial dilated cardiomyopathy in Inner Mongolia. Methods: A total of 3 patients with dilated cardiomyopathy and 20 family members from the same family were examined in Ordos Central Hospital in Inner Mongolia from October, 2003 to August, 2017. Data on medical history, physical examinations, electrocardiograms, and echocardiography were obtained. 5 ml peripheral blood was sampled for per person. Chip Capture Sequencing technology was used to capture all the exons and splice sites of the genes that associated with hereditary cardiomyopathy and hereditary arrhythmia. The mutations in these genes were detected by high-throughput sequencing. All suspected pathogenic loci identified by high-throughput sequencing were verified by Sanger sequencing used for mutation detection. One hundred and fifty gender, age and race matched healthy people were included as the control group. Results: Pathogenic gene variations were detected in 3 symptomatic family members and 1 carrier from the pedigree. Five pathogenic gene variations were identified in the proband (Ⅱ1), a pSer236Gly and a pArg215Cys variation in the MYBPC3 gene, a pGln90Arg variation in the DSP gene, and pAsn2912Asp and pGlu2910Val variation in the DMD gene. One pathogenic variation was detected in Ⅲ3, which was a pArg215Cys variation in the MYBPC3 gene. Two pathogenic variations were detected in Ⅲ7, a pSer236Gly variation in the MYBPC3 gene and a pGln90Arg variation in the DSP gene. Two pathogenic variations were detected in the Ⅳ7, a pSer236Gly variation in the MYBPC3 gene and a pGln90Arg variation in the DSP gene. No gene variation loci were detected in the other family members and the control group. Conclusion: MYBPC3 gene, DSP gene and DMD gene variations are present in the familial dilated cardiomyopathy pedigree from Inner Mongolia, and these variations may be related with familial dilated cardiomyopathy.

UCA1 impacts progress of rheumatoid arthritis by inducing the apoptosis of fibroblast-like synoviocyte.

OBJECTIVE: Rheumatoid arthritis is a chronic autoimmune joint disease, which is characterized by the proliferation of fibroblast-like synoviocyte. Long non-coding RNA (lncRNA) has been reported to play an important role in the progression of many different diseases. The main objective of this research was to find out whether the lncRNAs influence the activity of fibroblast-like synoviocyte and the progression of this disease. PATIENTS AND METHODS: qRT-PCR was used to detect the expression of UCA1 in fibroblast-like synoviocyte from normal people and rheumatoid arthritis patients. MTT assay was used to detect the viability of cells. Apoptosis was detected by Caspase-3 Colorimetric Activity Assay Kit (Millipore, Billerica, MA, USA). Western blot was used to analyze the relationship of UCA1 and apoptosis. RESULTS: We found that the UCA1 was highly expressed in the normal fibroblast-like synoviocyte (NFLS), compared with the fibroblast-like synoviocyte of rheumatoid arthritis (RAFLS). We also found that the decrease in UCA1 expression increased the viability in NFLS and overexpressed UCA1 level in RAFLS decreased the viability. Caspase-3 was highly expressed in cells with higher viability. What's more, UCA1 could affect the viability of FLS by changing the expression of Wnt6. CONCLUSIONS: According to the results, we found that UCA1 was closely related to rheumatoid arthritis, which could be a potential target for treating it.

A new discussion of the cutaneous vascular reactivity in sensitive skin: A sub-group of SS?

BACKGROUND: Sensitive skin (SS) seems not to be a one-dimensional condition and many scholars concentrate on skin barrier disruption or sensorineural change, but few focus on its increased vascular reactivity. This study explored the possibility of using the different selection methods and measurement methods to verify a high vascular reactivity in SS without an impaired cutaneous barrier function. METHODS: Sixty "self-perceived sensitive skin" volunteers were enlisted and each one completed three kinds of screening tests: assess cutaneous sensory using questionnaire survey and Lactic Acid Sting Test (LAST); assess barrier function using Sodium lauryl sulphate (SLS) skin irritation test and assess cutaneous vascular reactivity using 98% DMSO test and non-invasive measurement. Volunteers were divided into different groups based on response to SLS. The DMSO clinical score and the biophysical parameters obtained by non-invasive measurement were subsequently analysed. RESULTS: (1) The positive correlations could be seen between sum LAST score and sum DMSO score regardless of the observation time; (2) The biological parameters (CBF、a*values and L* values) are all keeping with DMSO score; (3) If the participants were divided into SLS reactors and non-reactors, a composition ratio of DMSO score was significant difference in these two groups and in SLS non-reactors, there were still seven participants showed high reaction to DMSO. CONCLUSIONS: There is a sub-group of SS for characteristics of a high vascular reactivity without an impaired cutaneous barrier function. The DMSO test and novel non-invasive measurements which are conducive to assess cutaneous vascular reactivity, combined with SLS skin irritation test could help us to screen this kind of SS.

[Bibliometric analysis on relations between cardiovascular disease and erectile dysfunction].

Objective: To understand the current situation and trend on the relations between erectile dysfunction (ED) and cardiovascular disease (CVD) through analyzing the epidemiologic research data. Methods: We conducted a literature search on the Scopus for potentially relevant epidemiologic studies on ED and CVD published from 1957 to October, 28, 2016. Age of the article, types, regions, citation, and co-authorship of the documents were recorded. Results: A total number of 412 pieces of literature were published in the past six decades, with original articles the most common types of ED and CVD. ED and CVD associated epidemiologic topics had an annual increase in number, and remained stable in the past decade, with occident countries as the United States and Italy taking the lead in this area. Clinical and epidemiological studies were the hottest areas, with most authors sharing a co-authorship. Conclusion: Our results suggested that inter-disciplinary cooperation with emphasize on clinical application were the effective starting points for ED and CVD associated epidemiologic studies.

Size-dependent assembly of ligated gold nanocrystals in two dimensions.

Brownian dynamics (BD) simulation based on a coarse-grained model is performed to study the assembly of dodecanethiol-ligated Au nanocrystals (NCs) at a toluene-air interface. With increasing diameter from 3 nm to 9 nm, the NCs are found to form three different phases-a dispersed phase without aggregation, a mixture of dispersed NCs and rounded clusters, and a compactly packed solid phase of the fractal structure. Such size dependence of the assembled phase is attributed to the variation in the well depth [Formula: see text] of the interaction potential between NCs, and the value of [Formula: see text] for 6 nm NCs turns out to be most suitable to form monolayers with hexagonal packing. The result is of universal importance for assembling complete monolayers, because the valley of the interaction potential can be well tailored by properly choosing the NC size, ligand length and solvent.

[Reconstruct abdominal aortic branch arteries totally by endovascular repair in complex aortic aneurysms: a single-centre experience].

OBJECTIVE: To report experiences and results of complex aortic aneurysms involving the visceral arteries treating by total endovascular repair. METHODS: Seventy cases of thoracoabdominal aortic lesions treating by total endovascular repair in Department of Vascular Surgery, People's Liberation Army General Hospital from January 2011 to December 2014 were retrospectively analyzed. There were 47 cases underwent chimney technique, 6 underwent sandwich technique, 15 underwent fenestration technique and 2 underwent branched stent grafts technique. RESULTS: The average follow-up time was 21 months, range from 3 to 47 months. Completion angiography showed that typeⅠ endoleak of chimney, sandwich, fenestration and branched stent grafts group were 9/47, 5/6, 2/15 and 0, respectively. While at 30-day typeⅠ endoleak reduced to 7/47, 2/6, 0 and 0. During follow-up, there were 3 target vessel stents occlusion in chimney group, the patency rate of target vessel stent was 95.1% (58/61). In sandwich, fenestration and branched stent grafts group, all the target vessel stents kept patent. CONCLUSION: In this study, chimney, sandwich, fenestration and branched stent grafts techniques show good short-term and midterm results, the long-term effects still need further studies.