Objective To elucidate the causal relationship between high-density lipoprotein cholesterol(HDL-C)and colorectal cancer(CRC)through Mendelian randomization.Methods Mendelian randomi-zation analysis was conducted using genetic instrumental variables selected from a genome-wide association study dataset.The main methods included inverse variance weighted,MR-Egger,weighted median,simple mode,and weighted mode method;among which,inverse variance weighted method served as the primary analytical approach.Sensitivity analyses were performed to verify the robustness of results.Results A total of 41 genetic instrumental variables associated with HDL-C were identified.Inverse variance weighted method(OR=0.84,95% CI:0.73-0.96,P=0.01)and weighted median method(OR=0.82,95% CI:0.67-0.99,P=0.04)indicated a negative correlation between genetically-determined HDL-C and CRC risk.Sensitivity analyses confirmed the absence of heterogeneity and horizontal pleiotropy(P>0.05).Conclusion A causal relationship exists between HDL-C and CRC risk,with rs1077834 as a potential key determinant in the influence of HDL-C on CRC risk.

Objective:To investigate the clinical effect of three-dimensional(3D) flap model accurately designed before the operation in repairing irregular wounds of limbs with anterolateral thigh(ALT) perforator flap.Methods:The data of patients with ALT flaps designed with 3D printing technology to repair irregular soft tissue defects of limbs in Suzhou Ruihua Orthopedic Hospital from January to October 2022 were retrospectively analyzed. After the wound was scanned by 3D scanner before surgery, the wound model was printed. The ALT flap was precisely designed and harvested for covering the wound according to the body surface projection of the perforator vessel in the anterolateral femoral region located by color Doppler ultrasound before surgery. The survival of the flap, the healing of the donor and recipient sites and the occurrence of complications were observed and followed up after the operation. The effect of wound repair was evaluated by the comprehensive efficacy evaluation scale of the skin flap. The total score was 100 points, which was divided into excellent (90-100 points), good (75-89 points), fair (60-74 points) and poor (< 60 points).Results:A total of 34 patients were enrolled, including 26 males and 8 females, aged 18-75 years, with an average age of 45.5 years. Injury sites: wrist in 17 cases, foot in 10 cases, ankle in 7 cases. The operation time was 2.0-4.5 h (mean 3.3 h), and all donor sites were sutured directly. Vascular crisis occurred in 2 cases after skin flap transplantation. After surgical exploration, the transplanted skin flap survived, and the other skin flaps survived successfully. All 34 patients were followed up for 6 to 10 months, with an average of 8 months. All the donor sites of the skin flap healed primarily, and the wound healing time of the recipient site was 10-44 days, with an average of 20 days. At the last follow-up, the skin flap was good in color and texture, and the sensation returned to S1 and S2 grades. There were scars left in the donor site, no cicatricial contracture, pain and other discomfort, and no other serious complications. The results of flap evaluation were 80-91 points, with an average of 86 points. Among them, 25 cases were excellent, 6 cases were good, 3 cases were fair, and the excellent and good rate was 91%(31/34).Conclusion:The application of 3D printing technology assisted the design of ALT perforator flap to repair irregular wounds of limbs can significantly reduce the intraoperative design time of the flap, which is in line with the concept of precise design and incision of the flap, and has good clinical effect, and can effectively reduce the trauma and complications of the donor site.

Objective:To analyze the clinical and genetic characteristics of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus (GEFS+ ).Methods:Three GEFS+ probands and their pedigree members presented at the Children′s Hospital of Zhengzhou University from January 2020 to December 2021 were selected as the study subjects. Clinical data of the pedigrees were collected. Whole exome sequencing was carried out for the probands, and Sanger sequencing was used to verify the candidate variants.Results:Proband 1 was a 3-year-and-2-month-old male with febrile seizure plus. His father, two aunts, grandmother, aunt grandmother, uncle grandfather, and paternal great-grandmother also had onset of febrile seizures at 1 ~ 2 years of age with remission before 6 years old. Proband 2 was a 1-year-and-4-month-old male with complex febrile seizure. His mother, maternal uncle, and maternal grandmother also had febrile seizures before 5 ~ 6 years of age. Proband 3 was a 3-year-and-11-month-old male with febrile seizure plus. His father and grandfather also had febrile seizures plus with remission at 7 ~ 8 years of age. Genetic testing revealed that proband 1 had harbored a paternally derived heterozygous SCN1A: c. 1613T>C variant, proband 2 had harbored a maternally derived heterozygous SCN1A: c. 2804A>G variant, and proband 3 had harbored a paternally derived heterozygous SCN1A: c. 1271T>C variant. All of the three variants were predicted as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (PM1+ PM2_Supporting+ PP1+ PP3+ PP4). Conclusion:The c. 1613T>C, c. 2804A>G and c. 1271T>C variants probably underlay the pathogenesis of GEFS+ in these pedigrees.

Objective:To compare the effects of transverse abdominis plane block and incision infiltration anesthesia on the early postoperative recovery in the patients undergoing thoracoscopic lung resection with general anesthesia.Methods:Eighty American Society of Anesthesiologists Physical Status classification Ⅱ or Ⅲ patients, regardless of gender, aged 50-78 yr, with body mass index of 18-30 kg/m 2, scheduled for elective thoracoscopic lung resection under general anesthesia, were divided into 2 groups ( n=40 each) using a random number table method: incision local infiltration group (group D) and transverse abdominis plane block group (group E). In group E, the patients were changed to the lateral position after completion of anesthesia induction, ultrasound-guided transverse abdominis plane block was performed on the affected side, with 0.25% ropivacaine hydrochloride 30 ml injected. In group D, infiltration anesthesia with 0.25% ropivacaine hydrochloride was performed before incision. Postoperative patient-controlled intravenous analgesia was carried out, and flurbiprofen axetil was intravenously injected for rescue analgesia when the numerical rating scale score at rest >3 or numerical rating scale score≥6 while coughing. Quality of Recovery-15 scale scores were assessed at 1 day before surgery and 24 and 48 h after surgery. Plasma concentrations of interleukin-6 (IL-6) and IL-1β were measured by enzyme-linked immunosorbent assay before incision, at the end of surgery, and at 24 h after surgery. The amount of remifentanil used during surgery, the number of effective pressing times of patient-controlled analgesia within 48 h after surgery, requirement for rescue analgesia, first ambulation time after surgery, time to first flatus, length of hospital stay, and occurrence of nausea and vomiting and pulmonary infection within 48 h after surgery were recorded. Results:Compared with group D, Quality of Recovery-15 scale scores were significantly increased, the amount of remifentanil used during surgery and the number of effective pressing times of patient-controlled analgesia were reduced, the rate of rescue analgesia was decreased, the time to first rescue analgesia was prolonged, and the time to first flatus was shortened in group E ( P<0.05). There were no significant differences in the plasma concentrations of IL-6 and IL-1β at various time points, time to first ambulation after surgery, length of hospital stay, and incidence of nausea and vomiting and pulmonary infection between the two groups ( P>0.05). Conclusions:Compared with incision infiltration anesthesia, transverse abdominis plane block can reduce intraoperative consumption of opioids, alleviate postoperative pain, and promote early postoperative recovery when used for thoracoscopic lung resection under general anesthesia.

Objective To explore the characteristics and correlation of the chin and airway in females with skeletal Class Ⅱ mandibular retraction for reference for clinical diagnosis and therapy.Methods This study was approved by the hospital Medical Ethics Committee.Forty cases of skeletal Class Ⅱ mandibular retraction adult females with aver-age angle were selected as the research group,and sixty cases of skeletal Class Ⅰ patients with average angle were se-lected as the control group.Cone-beam computed tomography(CBCT)images for all subjects were analyzed using three-dimensional modeling software.Measurements included the chin morphology,position,and upper airway morphology.Results Compared with skeletal Class Ⅰ patients,patients with skeletal Class Ⅱ mandibular retraction had smaller an-terior chin thickness,base bone volume,chin total volume,and larger chin angle,chin depression,chin curvature,and alveolar area with statistically significant differences(P＜0.05).Gn-V,Gn-H,Po-NB distance,and facial angle were smaller,and the Y-axis angle was larger in patients with skeletal Class Ⅱ mandibular retraction with statistically signifi-cant differences(P＜0.05).Upper airway total volume,transverse and sagittal diameter of the glossopharynx upper boundary were smaller in patients with skeletal Class Ⅱ mandibular retraction with statistically significant differences(P＜0.05).The correlation analysis between the morphology and position of the chin and the morphology of the upper airway in patients with Class Ⅱ mandibular retraction showed that there was a negative correlation between chin angle and laryngopharynx length in patients with Class Ⅱ mandibular retraction(r=-0.277,P＜0.01).There was a negative correlation between Po-NB distance and palatopharyngeal length(r=-0.222,P＜0.05).Chin height(r=-0.261,P＜0.01)and basal bone area(r=-0.225,P＜0.05)were negatively correlated with the transverse diameter of the palato-pharyngeal upper boundary.The minimum chin thickness(r=0.245,P＜0.05),chin angle(r=0.249,P＜0.05),and al-veolar area(r=0.213,P＜0.05)were positively correlated with the sagittal diameter of the palatopharyngeal upper boundary.Gn-V(r=0.217,P＜0.05)and Po-NB distance(r=0.208,P＜0.05)were positively correlated with the trans-verse diameter of the glossopharynx upper boundary.Anterior chin thickness was negatively correlated with the sagittal diameter of the laryngopharynx upper boundary(r=-0.211,P＜0.05).Chin depression was negatively correlated with the sagittal diameter of the laryngopharynx lower boundary(r=-0.237,P＜0.05).Chin curvature was positively corre-lated with the transverse diameter of the laryngopharynx lower boundary(r=0.231,P＜0.05).Conclusion Patients with skeletal Class Ⅱ mandibular retraction exhibit thinner chins.The sagittal position of the chin is backward,and the vertical position is upward.Patients with skeletal Class Ⅱ mandibular retraction have a narrow glossopharyngeal airway.There is a correlation between the morphology and position of the chin and the morphology of the upper airway in pa-tients with Class Ⅱ mandibular retraction.

Objective:To comprehensively search the relevant literature on prone position-cardiopulmonary resuscitation (PP-CPR) in adults at home and abroad, analyze the content, summarize the evidence, and provide reference for clinical health care professionals.Methods:Systematic search of CNKI, China Biomedical Literature Service System (SinoMed), Wanfang Data, VIP database, PubMed, Embase, Cumulative Index to Nursing and Allied Health Literature (CINAHL), Cochran Library, Web of Science, Scopus literature database and other Chinese and English databases was conducted. The search period was from inception to June 15 in 2024. The contents of PP-CPR from randomized controlled trial (RCT), non-RCT (prospective or retrospective), cohort studies and case reports were extracted and systematically analyzed. The search results were standardized by the method of scoping review.Results:A total of 523 articles were obtained through preliminary search, and 14 references and gray literature were retrieved, totaling 537 articles. After strict screening by two researchers, a total of 26 literatures were included, 3 were non-RCT and 23 were case reports, involving 12 countries, including 3 in Chinese, 19 in English, 2 in French, 1 in German, and 1 in Korean. Three non-RCT demonstrated that compared with standard cardiopulmonary resuscitation (CPR), PP-CPR could produce higher pressure, and provide good respiratory and circulatory support. A total of 25 adult patients were included in the 23 case reports, of which 17 reported total recovery time and 13 reported PP-CPR time ≤ 5 minutes, all of which recovered spontaneous circulation, indicating the effectiveness of PP-CPR technology. In terms of final outcome, 4 patients (16.0%) died and 21 patients (84.0%) survived, indicating that PP-CPR technology could provide timely blood circulation and improve clinical outcomes for prone cardiac arrest patients. Among the 11 patients who reported complications after resuscitation, no neurological damage was found in the short-term outcomes, indicating that PP-CPR technology had a certain level of safety.Conclusions:PP-CPR can provide timely blood circulation for patients with cardiac arrest who are unable to lie supine quickly, and win "golden time" for defibrillation and further treatment. In clinical practice, medical staff need to evaluate the emergency environment, the number of rescuers and the specific condition of the patient, and implement first aid as soon as possible, so as to reduce the time of no blood flow in the vital organs of patients with cardiac arrest in prone position, and improve the clinical prognosis.

Objective:To investigate the risk factors of brain metastases in patients with limited-stage small cell lung cancer (SCLC) undergoing preventive brain radiotherapy after remission and to construct prediction model.Methods:A total of 231 patients with limited-stage SCLC who received chemoradiotherapy and achieved remission in 3201 Hospital from January 2015 to January 2023 were selected as the study objects. Logistic regression was used to analyze the influencing factors on the occurrence of brain metastases after remission in patients with limited-stage SCLC who received preventive brain radiotherapy. Binary logistic regression was used to construct a prediction model. Receiver operator characteristic (ROC) curve was used to evaluate the diagnostic efficacy of each indicator and the prediction model on the occurrence of brain metastases in patients.Results:The median follow-up time of the whole group was 73 months, and 42 cases of brain metastases occurred, with an incidence rate of 18.18%. There were statistically significant differences in the incidence of brain metastases among patients with different T stage ( Z=-4.97, P<0.001), clinical stage ( Z=-8.17, P<0.001), and time from initial treatment to thoracic radiotherapy ( χ2=21.38, P<0.001). Multivariate analysis showed that T stage (stage T 3: OR=6.29, 95% CI: 1.58-25.06, P=0.009; stage T 4: OR=12.91, 95% CI: 3.74-44.57, P<0.001), clinical stage (stageⅡ, OR=8.75, 95% CI: 2.89-26.51, P<0.001; stage Ⅲ, OR=18.43, 95% CI: 7.24-46.92, P<0.001), and time from initial treatment to thoracic radiotherapy ( OR=0.25, 95% CI: 0.11-0.56, P=0.001) were independent influencing factors on the occurrence of brain metastases after remission in patients with limited-stage SCLC who received preventive brain radiotherapy. The diagnostic prediction model based on the above indicators was logit ( P) =-19.91+1.84× stage T 3 +2.56× stage T 4+2.17× stage Ⅱ+2.91× stage Ⅲ-1.38× time from initial treatment to thoracic radiotherapy. ROC curve analysis showed that the area under the curve of T stage, clinical stage, time from initial treatment to thoracic radiotherapy, and the diagnostic prediction model for predicting the occurrence of brain metastasis after remission in patients with limited-stage SCLC who received preventive brain radiotherapy were 0.728, 0.660, 0.687, and 0.846, respectively, and the area under the curve of the diagnostic prediction model was significantly larger than those of the other indicators (all P<0.05) . Conclusion:T stage, clinical stage and the time from initial treatment to thoracic radiotherapy are all influential factors for the occurrence of brain metastases after remission in patients with limited-stage SCLC who received preventive brain radiotherapy. The diagnostic prediction model based on the above indicators can help to guide clinicians to accurately screen patients at high risk of brain metastases in the early stage.

Objective:To investigate the clinical effect of three-dimensional(3D) flap model accurately designed before the operation in repairing irregular wounds of limbs with anterolateral thigh(ALT) perforator flap.Methods:The data of patients with ALT flaps designed with 3D printing technology to repair irregular soft tissue defects of limbs in Suzhou Ruihua Orthopedic Hospital from January to October 2022 were retrospectively analyzed. After the wound was scanned by 3D scanner before surgery, the wound model was printed. The ALT flap was precisely designed and harvested for covering the wound according to the body surface projection of the perforator vessel in the anterolateral femoral region located by color Doppler ultrasound before surgery. The survival of the flap, the healing of the donor and recipient sites and the occurrence of complications were observed and followed up after the operation. The effect of wound repair was evaluated by the comprehensive efficacy evaluation scale of the skin flap. The total score was 100 points, which was divided into excellent (90-100 points), good (75-89 points), fair (60-74 points) and poor (< 60 points).Results:A total of 34 patients were enrolled, including 26 males and 8 females, aged 18-75 years, with an average age of 45.5 years. Injury sites: wrist in 17 cases, foot in 10 cases, ankle in 7 cases. The operation time was 2.0-4.5 h (mean 3.3 h), and all donor sites were sutured directly. Vascular crisis occurred in 2 cases after skin flap transplantation. After surgical exploration, the transplanted skin flap survived, and the other skin flaps survived successfully. All 34 patients were followed up for 6 to 10 months, with an average of 8 months. All the donor sites of the skin flap healed primarily, and the wound healing time of the recipient site was 10-44 days, with an average of 20 days. At the last follow-up, the skin flap was good in color and texture, and the sensation returned to S1 and S2 grades. There were scars left in the donor site, no cicatricial contracture, pain and other discomfort, and no other serious complications. The results of flap evaluation were 80-91 points, with an average of 86 points. Among them, 25 cases were excellent, 6 cases were good, 3 cases were fair, and the excellent and good rate was 91%(31/34).Conclusion:The application of 3D printing technology assisted the design of ALT perforator flap to repair irregular wounds of limbs can significantly reduce the intraoperative design time of the flap, which is in line with the concept of precise design and incision of the flap, and has good clinical effect, and can effectively reduce the trauma and complications of the donor site.

Post-traumatic osteoarthritis (PTOA) is a chronic degenerative joint disease caused by joint injury and abnormal mechanical stress stimulation is one of its key mechanisms. Currently, it is difficult to repair the articular cartilage completely even with surgical treatment and there is a lack of effective treatments for PTOA. Chondrocytes, one of the primary cell types involved in the pathogenic process of PTOA, are highly sensitive to mechanical signals. The mechanosensitive ion channel Piezo1 serves the important functions of sensing external forces and mechanical stimuli and plays a crucial role in PTOA by regulating chondrocytes′ responses to mechanical stress. Therefore, its essential to understand the mechanisms of the Piezo1 channel in regulating PTOA chondrocytes in exploring new therapeutic strategies. To this end, the authors reviewed the research progress on the regulatory mechanisms of the Piezo1 channel on PTOA chondrocytes, aiming to provide a reference for future studies on PTOA mechanisms and treatment options.

Objective:To investigate the clinical and gene variant characteristics of PCDH19 gene related epilepsy, and improve the ability of clinicians in early disease identification. Methods:The clinical data of 3 PCDH19 gene related epilepsy patients admitted to Children′s Hospital Affiliated to Zhengzhou University from October 2018 to August 2023 diagnosed by gene detection were reviewed and analyzed. Results:All the patients are female, and the onset age of seizure ranged in their infancy. Seizures in clusters and fever sensitivity were observed in all patients, and were very hard to control by single-drug treatment. Proband 1 was seizure-free after 2 kinds of anti-epileptic drug treatment, but with mild degree of intellectual disability. Proband 2 had refractory epilepsy with severe degree of intellectual disability. Proband 3 was seizure-free after 2 kinds of anti-epileptic drug treatment and without intellectual disability. In the first family, the proband carried heterozygous c.369C>G variant in the PCDH19 gene which was identified as de novo after parental validation. In the second family, the proband carried c.1652T>A variant inherited from her mother. In the third family, the proband carried c.278G>A variant inherited from her father. The 3 mutations had not been reported in the Human Gene Mutation Database. Conclusions:PCDH19 gene related epilepsy is one special kind of X-linked inherited epilepsy syndrome characterized by seizures in clusters and sensitivity to fever. And gene detection can help with early diagnosis and make rational clinical strategies in time. The variants c.369C>G, c.1652T>A and c.278G>A have enriched the gene variant spectrum of PCDH19.