Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease with a carrier frequency of 1/60 ~ 1/40, is characterized by severe clinical symptoms, high mortality rate, and expensive treatment costs. Carrier screening is of paramount importance to detect high-risk couples, and therefore to reduce the occurrence of SMA. In China, SMA carrier screening has become widespread, though there is still a lack of genetic counseling expertise. This article has focused on the current challenges for SMA carrier screening, including the screening methods, target population, screening procedures, and pre-/post-testing counseling. The aim is to standardize its application and counseling in the clinical practice.

Objective:To analyze the value of the modified 5-factor frailty index in assessing postoperative complications and mortality in elderly hip fracture patients.Methods:In this retrospective study, clinical data were collected of hip fracture patients aged 60 years and above surgically treated at Beijing Luhe Hospital affiliated to Capital Medical University between January 2015 and December 2019.Patients' group assignment was based on whether the modified frailty index score was ≤1 or ≥2, and a post-surgery follow-up was conducted for survival at 30 days, 1 year, 2 years, and 4 years, which was analyzed by the Kaplan-Meier method.Multivariate Cox regression analysis was used to identify factors affecting death in elderly patients.Results:A total of 1 208 patients were included, with 890 in the group with the index score ≤1 and 318 in the group with the index score ≥2.There was no difference in mortality at 30 days(1.6% or 14/890 vs.1.9% or 6/318, P=0.707), 1-year(11.3% or 99/874 vs.11.6% or 36/310, P=0.917), 2-years(19.7% or 168/852 vs.24.3% or 73/300, P=0.099)and 4-years(44.0% or 238/541 vs.51.5% or 106/206, P=0.071). The incidence of postoperative complications in the group with the score ≥2 was higher(14.8% or 47/318 vs.9.7% or 86/890, P=0.012), including the incidence of stroke(6.3% or 20/318 vs.1.8% or 16/890, P<0.001)and the incidence of postoperative pneumonia(6.0% or 19/318 vs.3.1% or 28/890, P=0.029), and the differences were statistically significant.Multivariate Cox regression analysis showed that age, being female, the Charlson comorbidity index score and low hemoglobin at admission were risk factors for 1-year, 2-year and 4-year mortality post-surgery(all P<0.05), while the modified frailty index score had no correlation with postoperative mortality. Conclusions:A modified frailty index ≥2 is predictive of increased risk of postoperative pneumonia and stroke in patients with hip fractures, but is not correlated with the risk of postoperative mortality.

Decellularized matrix transplantation has emerged as a promising therapeutic approach for repairing tissue defects, with numerous studies assessing its safety and efficacy in both animal models and clinical settings. The host immune response elicited by decellularized matrix grafts of natural biological origin plays a crucial role in determining the success of tissue repair, influenced by matrix heterogeneity and the inflammatory microenvironment of the wound. However, the specific immunologic mechanisms underlying the interaction between decellularized matrix grafts and the host immune system remain elusive. This article reviews the sources of decellularized matrices, available decellularization techniques, and residual immunogenic components. It focuses on the host immune response following decellularized matrix transplantation, with emphasis on the key mechanisms of Toll-like receptor, T-cell receptor, and TGF-β/SMAD signaling in the stages of post-transplantation immunorecognition, immunomodulation, and tissue repair, respectively. Furthermore, it highlights the innovative roles of TLR10 and miR-29a-3p in improving transplantation outcomes. An in-depth understanding of the molecular mechanisms underlying the host immune response after decellularized matrix transplantation provides new directions for the repair of tissue defects.

Objective:To explore the clinical effects of individualized free anterolateral thigh flap in repairing complex refractory wound.Methods:From July 2015 to May 2019, 19 patients with complex refractory wounds were hospitalized in Yulin NO.1 People′s Hospital of Guangxi Zhuang Autonomous Region, including 12 males and 7 female, aged 13-67 years. There were 5 patients with multiple tissue defects, 7 patients with large area of wounds, and 7 patients with wounds in special areas. The sizes of wounds after complete debridement were 8 cm×5 cm-23 cm×7 cm. According to the repair demand, the wounds in 5 patients were repaired with anterolateral thigh flaps and flow-through, the wounds in 7 patients were repaired with anterolateral thigh flaps chimed with lateral thigh muscle flaps, with vascular anastomosis in 2 patients, the wounds in 6 patients were repaired with unilateral anterolateral thigh lobulated flaps, and the wound in 1 patient was repaired with bilateral anterolateral thigh flap in series connection. The sizes of flaps were 10 cm×7 cm-25 cm×9 cm. The donor sites were sutured directly or repaired with thin split-thickness skin graft of head. The survival of the flaps, the appearance of the donor sites, and wounds repair after the operation and during follow-up were observed.Results:The lobulated flap in 1 patient had local necrosis after the operation and finally healed by debridement, dressing change, and transplanting medium split-thickness skin graft in groin. The flaps in 18 patients survived with good blood supply, and the lobulated flap tissue was swollen in 1 of 18 patients. The donor sites which were directly sutured in 18 patients only had linear scar, and the donor site which was repaired with thin split-thickness skin graft of head in 1 patient had flaky scar. Follow-up of 1-12 months showed that all the wounds healed well, the flap thinning operations were performed in 5 patients in 3 months post operation because the flaps were slightly bloated. The CT angiography after the operation showed that the anastomosed blood vessels were unobstructed in 7 patients with reconstructed local blood supply.Conclusions:The special forms of anterolateral thigh flap, such as lobulation, series connection, and chimerism can be designed according to the anatomical characteristics of the descending branch of the lateral femoral artery to meet individualized repair demand for complex refractory wounds, and achieve the double purposes of making full use of the donor site tissue and good repair of the recipient site.

Objective To explore the clinical effect of gluteal pressure sore repaired by superior and inferior perforating artery island flap with rotation and joint propulsion.Methods From January 2014 to April 2018,37 patients (27 males,10 females,aged 35～79 years) with hip decubitus were admitted to the First People's Hospital of Yulin City for treatment of hip decubitus.According to the situation of the wound surface,the perforating site of superior and inferior perforator arteries and the local soft tissue,the corresponding perforator arteries were selected as the pedicle to form island skin flap,and the wound surface was transferred by rotation and propulsion.Results All the flaps sur vived well.33 cases healed in the first stage,but 4 cases dehisced and infected in the incision.After dressing change,the wounds healed in the second stage and the wounds were locally smooth.Conclusions The rotational combined push type gluteal superior and inferior perforator island flap is a good method to repair gluteal pressure sore.

Objective: To explore the clinical effect of free latissimus dorsi myocutaneous flap in the repair of head composite tissue defect. Methods: From July 2015 to April 2018, 7 patients with head composite tissue defect, which included 5 males and 2 females, aged from 10 to 52 years old were admitted in the First People′s Hospital of Yulin. The wounds were caused by various reasons 5 cases of head squamous cell carcinoma, 1 case of electric injury and 1 case of trauma. For tumor patients combined with neurosurgery to remove the lesion tissue, the latissimus dorsi myocutaneous flap were cut and transplanted to cover the wound immediately after the thorough expansion of trauma patients, and the donor area were closed directly or byskin grafts. Results: The latissimus dorsi musculocutaneous flaps were cut with areas from 16 cm×6 cm to 28 cm×20 cm, 6 cases of thoracic and dorsal vessels anastomos is with the superficial temporal vessels, and 1 case of thoracic and dorsal vessels anastomosis with occipital vessels. The blood supply of myocutaneous flaps were good in 6 cases, and venous crisis occurred in 1 case on the second day after the operation. Postoperative follow-up was conducted for 3 months to 1 year. No tumor recurrence was observed in the tumor patients, and the wound surfaces were locally smooth. Conclusions The latissimus dorsi musculocutaneous flap is a good method for repairing the defect of the head composite tissue defect with big size and good blood supply.

Objective To compare the performance of colitis induced by dextran sulfate sodium (DSS) between Lnk-knockout mice and wild-type mice. Methods The C57 BL/6 mice with similar week age were divided into wild type group (WT), wild type mouse with colitis group (WT +DSS), Lnk-knockout group (KO) and Lnk-knockout mouse with colitis group (KO + DSS). WT and KO mice were admitted to drink water freely, WT + DSS and KO + DSS mice was allowed to drink2. 5％ DSS aqueous solution freely. The experiment was carried out for 7 days to observe daily weight change, fecal texture (soft or hardness) and intestinal hemorrhage in mice, and to evaluate the disease activity index (DAI). After 7 days, the peripheral blood was collected to detect the regulatory B-cell (Breg) frequency by flow cytometry in the peripheral blood of WT mice and KO mice. The mouse was sacrificed, and the bowel was taken to observe the shape, color and measure the length of the intestine. The colonic tissue was produced by histological sections and HE staining, and histological changes were observed under the microscope. Results The bowel movement was normal in WT group and KO group, and the mice in KO + DSS group and the WT + DSS group had manifestation of earlier diarrhea and blood-draining. In the experimental period, the weight of KO + DSS group was significantly lower than the other 3 groups, and DAI in the KO + DSS group increased significantly with time. Breg cells frequency in KO group was significantly lower than WT group. In the KO +DSS group, colon obviously shortened, microscopic examination of HE tissue section showed erosive bleeding congestion, multiple lesions shallow ulcer, inflammatory cell infiltration mucosa and submucosa with involvement of the muscle layer, which indicated increased inflammatory response.Conclusion Lnk deficiency can aggravate the performance of DSS-induced colitis in mice, which may be related to the decrease of Breg cells frequency and negative regulation of inflammatory response in Lnk KO mice.

Objective To compare the performance of colitis induced by dextran sulfate sodium (DSS) between Lnk-knockout mice and wild-type mice. Methods The C57 BL/6 mice with similar week age were divided into wild type group (WT), wild type mouse with colitis group (WT +DSS), Lnk-knockout group (KO) and Lnk-knockout mouse with colitis group (KO + DSS). WT and KO mice were admitted to drink water freely, WT + DSS and KO + DSS mice was allowed to drink2. 5％ DSS aqueous solution freely. The experiment was carried out for 7 days to observe daily weight change, fecal texture (soft or hardness) and intestinal hemorrhage in mice, and to evaluate the disease activity index (DAI). After 7 days, the peripheral blood was collected to detect the regulatory B-cell (Breg) frequency by flow cytometry in the peripheral blood of WT mice and KO mice. The mouse was sacrificed, and the bowel was taken to observe the shape, color and measure the length of the intestine. The colonic tissue was produced by histological sections and HE staining, and histological changes were observed under the microscope. Results The bowel movement was normal in WT group and KO group, and the mice in KO + DSS group and the WT + DSS group had manifestation of earlier diarrhea and blood-draining. In the experimental period, the weight of KO + DSS group was significantly lower than the other 3 groups, and DAI in the KO + DSS group increased significantly with time. Breg cells frequency in KO group was significantly lower than WT group. In the KO +DSS group, colon obviously shortened, microscopic examination of HE tissue section showed erosive bleeding congestion, multiple lesions shallow ulcer, inflammatory cell infiltration mucosa and submucosa with involvement of the muscle layer, which indicated increased inflammatory response.Conclusion Lnk deficiency can aggravate the performance of DSS-induced colitis in mice, which may be related to the decrease of Breg cells frequency and negative regulation of inflammatory response in Lnk KO mice.

Objective: To investigate the effect of hypoxia inducible factor 2α (HIF-2α) on regulating CUB domain-containing protein 1 (CDCP1) and its role in hepatocellular carcinoma metastasis. Methods: HIF-2α-knocked down and HIF-2α-stably overexpressing cells (MHCC97H) were prepared by small interfering RNA (siRNA) and lentivirus transfection, respectively. The expression of CDCP1 protein and mRNA in the above cells was detected by western blot and real-time PCR. The effect of HIF-2α on cell invasion ability was determined by Transwell assay. Furthermore, immunohistochemical staining was performed to detect the expression of CDCP1 in human HCC tissue samples. Results: Both HIF-2α and CDCP1 were induced under hypoxic conditions. The activation of CDCP1 under hypoxic conditions was dependent on the expression of HIF-2α.When HIF-2α was overexpressed, the mRNA level of CDCP1 was greatly upregulated (5.92±0.28, P<0.05). When HIF-2α was knocked down by siRNA for 48 h and 72 h, the expression of CDCP1 was significantly downregulated (48 h: 0.25±0.04; 72 h: 0.18±0.02, all P<0.05). Moreover, analysis of human HCC samples showed that CDCP1 expression was correlated with tumor-free survival (P<0.05). Conclusions The results of this study indicate that the expression of CDCP1 is regulated by HIF-2α and is correlated with the progression of HCC. Inhibition of HIF-2α/CDCP1 may play certain inhibitory role in the metastasis of HCC.

We investigated the distribution characteristics of Yersinia enterocolitica in Ningxia ,China .In accordance with the requirements of the National Yersinia enterocolitica Disease Monitoring Scheme ,Y .enterocolitica were isolated from differ‐ent kinds of specimens collected in Ningxia in 2008 to 2013 .Then they were serotyped and detected for virulence gene and ana‐lyzed the pulsed‐field gel electrophoresis (PFGE) in Chinese CDC .It was found that 173 strains were isolated from various types of 9 643 specimens ,and the detection rate was 1 .79% .There were statistical differences among detection rates in differ‐ent years and in different specimens (P<0 .01) .Pathogenic serotypes O∶3 and O∶9 carried ail gene and ystA gene were de‐tected from specimens of pigs and diarrhea patient .Non‐pathogenic serotypes O∶5 and O∶8 and non‐typeable strains didn't carry ail gene and ystA gene ,and also can't be detected from swine ,cattle ,sheep ,chickens and dogs .In conclusion ,Y .en‐terocolitica was widely distributed in Ningxia and pigs were the dominant animal host .In all pathogenic serotypes ,the highest proportion was O∶3 following by O∶9 .It was no time and regional difference in the distribution of that in Ningxia ,China .