Objective:To investigate the clinical phenotype and genotype characteristics of lipoyltransferase 1 deficiency (LIPT1D).Methods:A retrospective analysis of the clinical data was conducted for one case of LIPT1D, admitted to the Department of Neonatology at Shanghai Children's Hospital on May 7, 2023. Key terms "lipoyltransferase 1 deficiency", " LIPT1", and "lipoic acid" were used to search national databases including CNKI, Wanfang Data, VIP, and Yiigle; and international databases PubMed, Embase, and Web of Science until September 15, 2023, to summarize the clinical presentations, biochemical phenotypes, and genotypic characteristics of LIPT1D. Descriptive statistical analysis was employed. Results:(1) The case concerned: At 1.5 h after birth, the infant exhibited cyanosis and poor responsiveness, presenting with uncorrectable metabolic acidosis (blood pH value 6.9, base excess -27 mmol/L, bicarbonate 5.7 mmol/L), and hyperlactatemia (the highest was 24 mmol/L). The condition progressed rapidly, and the infant died 9 h after birth. Whole exome sequencing performed 6 h postnatally identified compound heterozygous variants in the LIPT1 gene (NM_001204830.1) in the infant. Variants c.986C>A (p.Ser329*) from the mother and c.405_406del (p.Arg135Serfs*18) from the father were detected, both suspected to be pathogenic. (2) Literature review: A review of the literature identified seven cases of LIPT1D caused by LIPT1 gene mutations, totaling eight cases including the current one. The main presentations of LIPT1D in these infants were hyperlactatemia, metabolic acidosis, neurodevelopmental delay, and epilepsy, with four cases presenting in the neonatal period and resulting in death. Conclusions:The primary clinical manifestations of LIPT1D are severe hyperlactatemia, metabolic acidosis, and neurological involvement, potentially leading to early neonatal death. Whole-exome sequencing is instrumental in diagnosing this condition.

Objective:To explore the clinical effects of early rehabilitation treatment after repair surgery of skin and soft tissue defects accompanied by extensor tendon injury on the back of hand.Methods:This study was a retrospective non-randomized controlled study. From February 2015 to February 2023, 24 patients (15 males and 9 females, aged 12-55 years) with skin and soft tissue defects accompanied by extensor tendon injury on the back of hand, who met the inclusion criteria and were repaired with flap transplantation and tendon grafting or tendon anastomosis, were admitted to the First Affiliated Hospital of Air Force Medical University. According to different intervention time for postoperative rehabilitation treatment of patients, the patients were divided into conventional rehabilitation group and early rehabilitation group, with 12 cases in each group. Patients in early rehabilitation group received rehabilitation treatment immediately after surgery under the rehabilitation guidance of specialized rehabilitation physicians based on the characteristics of different postoperative periods. Patients in conventional rehabilitation group began rehabilitation treatment from the third week after surgery, and their rehabilitation treatment was the same as that of patients in early rehabilitation group from the second week after surgery. The patients in 2 groups were treated in the hospital until the sixth week after surgery. The occurrence of flap vascular crisis and tendon rupture were observed within 6 weeks after surgery. After 6 weeks of surgery, the manual muscle test was used to measure the pinching force between the index finger and thumb, lateral pinching force, three-point pinching force, and grip force of the affected hand; the total action motion method was used to evaluate the finger joint range of motion of the affected hand, and the excellent and good ratio was calculated; the Carroll upper extremity function test was used to score and rate the function of the affected hand.Results:Within 6 weeks after surgery, only 1 patient in conventional rehabilitation group suffered from venous crisis, and the flap survived after the second surgical exploration and anastomosis of blood vessels; there was no occurrence of tendon rupture in patients of 2 groups. After 6 weeks of surgery, there were no statistically significant differences in pinching force between the index finger and thumb, lateral pinching force, three-point pinching force, or grip force of the affected hand between the two groups of patients ( P>0.05); the excellent and good ratio of the finger joint range of motion of the affected hand of patients in early rehabilitation group was 11/12, which was higher than 7/12 in conventional rehabilitation group, but there was no statistically significant difference ( P>0.05); the affected hand function score of patients in early rehabilitation group was 90±6, which was significantly higher than 83±8 in conventional rehabilitation group ( t=2.41, P<0.05); the function rating of the affected hand of patients in early rehabilitation group was obviously better than that in conventional rehabilitation group ( Z=2.04, P<0.05). Conclusions:Early rehabilitation treatment for patients with skin and soft tissue defects accompanied by extensor tendon injury on the back of hand after repair surgery can improve hand function, but it would not increase surgery related complications, which is worthy of clinical promotion and application.

Objective To observe the value of dual-source CT(DECT)virtual monoenergetic imaging(VMI)for differentiating prostate cancer(PC)and benign prostatic hyperplasia(BPH).Methods Thirty-three patients with PC(PC group)and 44 patients with BPH(BPH group)were retrospectively enrolled,and 40-100 keV(with 10 keV interval)VMI were reconstructed based on arterial phase DECT images,respectively.Clinical data,focal CT value and contrast-to-noise ratio(CNR)of VMI with different energy levels and conventional linear fusion images of arterial phase were compared between groups.Binary logistic regression models were constructed based on clinical data being significantly different between groups,focal CT value of VMI with energy level with the highest CNR,also focal CT value of conventional linear fusion images of arterial phase,respectively.The area under the receiver operating characteristic curve(AUC)was calculated to evaluate the efficacy of each model for differentiating PC and BPH.Results Free prostate-specific antigen(f-PSA),total prostate-specific antigen(t-PSA),focal CT value of 40-100 keV VMI and conventional linear fusion images of arterial phase in PC group were all higher,while short diameter in PC group was smaller than those in BPH group(all P＜0.05).Logistic regression models were constructed based on f-PSA,t-PSA,short diameter,CT value at 40 keV VMI and CT value at conventional linear fusion images of arterial phase,respectively,with AUC for differentiating PC and BPH of 0.879,0.902,0.701,0.911 and 0.857,respectively.Conclusion DECT VMI could be used as a supplementary examination for prostate diseases,and 40 keV VMI had the best efficacy for differentiating PC and BPH.

OBJECTIVE:At present,there are many reports on the related factors associated with the incidence of cervical spine instability in patients with rheumatoid arthritis,but there are problems such as small sample size and many confounding factors,and the research results of various studies on the same related factors are also different.This article analyzed the factors related to cervical spine instability in patients with rheumatoid arthritis by means of a systematic review. METHODS:Articles related to cervical spine instability in patients with rheumatoid arthritis were collected by searching both Chinese and English databases until March 2023.The outcome of cervical spine instability in patients with rheumatoid arthritis was used as the grouping criterion to abstract basic information,baseline patient characteristics,laboratory-related tests,medication use,and other relevant risk factors.Meta-analysis was done using Stata 14.0 software. RESULTS:(1)Sixteen relevant studies,all of moderate or above quality,were included,including seven studies with case-control studies and nine with cross-sectional studies.The overall incidence of cervical spine instability in patients with rheumatoid arthritis was 43.08%.(2)Meta-analysis showed:Related risk factors included female(OR=0.60,95%CI:0.44-0.82,P=0.002);age at disease onset(SMD=-0.52,95%CI:-0.86 to-0.18,P=0.003);duration of disease(SMD=0.58,95%CI:0.14-1.02,P=0.01);body mass index(OR=0.74,95%CI:0.63-0.88,P=0.001);rheumatoid factors positive univariate analysis subgroup(OR=1.33,95%CI:1.02 to 1.72,P=0.04),C-reactive protein(SMD=0.26,95%CI:0.16-0.35,P=0.00),erythrocyte sedimentation rate(SMD=0.15,95%CI:0.002-0.29,P=0.047),anti-cyclic-citrullinated peptide antibodies(OR=1.73,95%CI:1.19-2.51,P=0.004),28-joint Disease Activity Score(SMD=0.20,95%CI:0.04-0.37,P=0.02),destruction of peripheral joints(OR=2.48,95%CI:1.60-3.85,P=0.00),and corticosteroids(OR=1.91,95%CI:1.54-2.37,P=0.00)were strongly associated with the development of rheumatoid arthritis-cervical spine instability.Female and corticosteroid use were independently associated with the occurrence of rheumatoid arthritis-cervical spine instability. CONCLUSION:Based on clinical evidence from 16 observational studies,the overall incidence of rheumatoid arthritis-cervical spine instability was 43.08%.However,the incidence of cervical spine instability in rheumatoid arthritis patients varied greatly among different studies.Gender(female)and the use of corticosteroids were confirmed as independent correlation factors for the onset of cervical spine instability in patients with rheumatoid arthritis.The results of this study still provide some guidance for early clinical recognition,diagnosis,and prevention of rheumatoid arthritis-cervical spine instability.

Objective:To investigate the incidence of postoperative complications in Chinese patients with gastric or colorectal cancer, and to evaluate the risk factors for postoperative complications.Methods:This was a national, multicenter, prospective, registry-based, cohort study of data obtained from the database of the Prevalence of Abdominal Complications After Gastro- enterological Surgery (PACAGE) study sponsored by the China Gastrointestinal Cancer Surgical Union. The PACAGE database prospectively collected general demographic characteristics, protocols for perioperative treatment, and variables associated with postoperative complications in patients treated for gastric or colorectal cancer in 20 medical centers from December 2018 to December 2020. The patients were grouped according to the presence or absence of postoperative complications. Postoperative complications were categorized and graded in accordance with the expert consensus on postoperative complications in gastrointestinal oncology surgery and Clavien-Dindo grading criteria. The incidence of postoperative complications of different grades are presented as bar charts. Independent risk factors for occurrence of postoperative complications were identified by multifactorial unconditional logistic regression.Results:The study cohort comprised 3926 patients with gastric or colorectal cancer, 657 (16.7%) of whom had a total of 876 postoperative complications. Serious complications (Grade III and above) occurred in 4.0% of patients (156/3926). The rate of Grade V complications was 0.2% (7/3926). The cohort included 2271 patients with gastric cancer with a postoperative complication rate of 18.1% (412/2271) and serious complication rate of 4.7% (106/2271); and 1655 with colorectal cancer, with a postoperative complication rate of 14.8% (245/1655) and serious complication rate of 3.0% (50/1655). The incidences of anastomotic leakage in patients with gastric and colorectal cancer were 3.3% (74/2271) and 3.4% (56/1655), respectively. Abdominal infection was the most frequently occurring complication, accounting for 28.7% (164/572) and 39.5% (120/304) of postoperative complications in patients with gastric and colorectal cancer, respectively. The most frequently occurring grade of postoperative complication was Grade II, accounting for 65.4% (374/572) and 56.6% (172/304) of complications in patients with gastric and colorectal cancers, respectively. Multifactorial analysis identified (1) the following independent risk factors for postoperative complications in patients in the gastric cancer group: preoperative comorbidities (OR=2.54, 95%CI: 1.51-4.28, P<0.001), neoadjuvant therapy (OR=1.42, 95%CI:1.06-1.89, P=0.020), high American Society of Anesthesiologists (ASA) scores (ASA score 2 points:OR=1.60, 95% CI: 1.23-2.07, P<0.001, ASA score ≥3 points:OR=0.43, 95% CI: 0.25-0.73, P=0.002), operative time >180 minutes (OR=1.81, 95% CI: 1.42-2.31, P<0.001), intraoperative bleeding >50 mL (OR=1.29,95%CI: 1.01-1.63, P=0.038), and distal gastrectomy compared with total gastrectomy (OR=0.65,95%CI: 0.51-0.83, P<0.001); and (2) the following independent risk factors for postoperative complications in patients in the colorectal cancer group: female (OR=0.60, 95%CI: 0.44-0.80, P<0.001), preoperative comorbidities (OR=2.73, 95%CI: 1.25-5.99, P=0.030), neoadjuvant therapy (OR=1.83, 95%CI:1.23-2.72, P=0.008), laparoscopic surgery (OR=0.47, 95%CI: 0.30-0.72, P=0.022), and abdominoperineal resection compared with low anterior resection (OR=2.74, 95%CI: 1.71-4.41, P<0.001). Conclusion:Postoperative complications associated with various types of infection were the most frequent complications in patients with gastric or colorectal cancer. Although the risk factors for postoperative complications differed between patients with gastric cancer and those with colorectal cancer, the presence of preoperative comorbidities, administration of neoadjuvant therapy, and extent of surgical resection, were the commonest factors associated with postoperative complications in patients of both categories.

Objective:To investigate the incidence of postoperative complications in Chinese patients with gastric or colorectal cancer, and to evaluate the risk factors for postoperative complications.Methods:This was a national, multicenter, prospective, registry-based, cohort study of data obtained from the database of the Prevalence of Abdominal Complications After Gastro- enterological Surgery (PACAGE) study sponsored by the China Gastrointestinal Cancer Surgical Union. The PACAGE database prospectively collected general demographic characteristics, protocols for perioperative treatment, and variables associated with postoperative complications in patients treated for gastric or colorectal cancer in 20 medical centers from December 2018 to December 2020. The patients were grouped according to the presence or absence of postoperative complications. Postoperative complications were categorized and graded in accordance with the expert consensus on postoperative complications in gastrointestinal oncology surgery and Clavien-Dindo grading criteria. The incidence of postoperative complications of different grades are presented as bar charts. Independent risk factors for occurrence of postoperative complications were identified by multifactorial unconditional logistic regression.Results:The study cohort comprised 3926 patients with gastric or colorectal cancer, 657 (16.7%) of whom had a total of 876 postoperative complications. Serious complications (Grade III and above) occurred in 4.0% of patients (156/3926). The rate of Grade V complications was 0.2% (7/3926). The cohort included 2271 patients with gastric cancer with a postoperative complication rate of 18.1% (412/2271) and serious complication rate of 4.7% (106/2271); and 1655 with colorectal cancer, with a postoperative complication rate of 14.8% (245/1655) and serious complication rate of 3.0% (50/1655). The incidences of anastomotic leakage in patients with gastric and colorectal cancer were 3.3% (74/2271) and 3.4% (56/1655), respectively. Abdominal infection was the most frequently occurring complication, accounting for 28.7% (164/572) and 39.5% (120/304) of postoperative complications in patients with gastric and colorectal cancer, respectively. The most frequently occurring grade of postoperative complication was Grade II, accounting for 65.4% (374/572) and 56.6% (172/304) of complications in patients with gastric and colorectal cancers, respectively. Multifactorial analysis identified (1) the following independent risk factors for postoperative complications in patients in the gastric cancer group: preoperative comorbidities (OR=2.54, 95%CI: 1.51-4.28, P<0.001), neoadjuvant therapy (OR=1.42, 95%CI:1.06-1.89, P=0.020), high American Society of Anesthesiologists (ASA) scores (ASA score 2 points:OR=1.60, 95% CI: 1.23-2.07, P<0.001, ASA score ≥3 points:OR=0.43, 95% CI: 0.25-0.73, P=0.002), operative time >180 minutes (OR=1.81, 95% CI: 1.42-2.31, P<0.001), intraoperative bleeding >50 mL (OR=1.29,95%CI: 1.01-1.63, P=0.038), and distal gastrectomy compared with total gastrectomy (OR=0.65,95%CI: 0.51-0.83, P<0.001); and (2) the following independent risk factors for postoperative complications in patients in the colorectal cancer group: female (OR=0.60, 95%CI: 0.44-0.80, P<0.001), preoperative comorbidities (OR=2.73, 95%CI: 1.25-5.99, P=0.030), neoadjuvant therapy (OR=1.83, 95%CI:1.23-2.72, P=0.008), laparoscopic surgery (OR=0.47, 95%CI: 0.30-0.72, P=0.022), and abdominoperineal resection compared with low anterior resection (OR=2.74, 95%CI: 1.71-4.41, P<0.001). Conclusion:Postoperative complications associated with various types of infection were the most frequent complications in patients with gastric or colorectal cancer. Although the risk factors for postoperative complications differed between patients with gastric cancer and those with colorectal cancer, the presence of preoperative comorbidities, administration of neoadjuvant therapy, and extent of surgical resection, were the commonest factors associated with postoperative complications in patients of both categories.

Objective: : Blood-blister aneurysms (BBAs) of the internal carotid artery (ICA) are challenging lesions with high morbidity and mortality rates. Although research on BBAs is well documented in different populations, the study of BBAs in the Tibetan population is extremely rare. This study aimed to evaluate the characteristics of BBAs and analyze the treatment modalities and long-term outcomes in the Tibetan population in comparison with the Han population. Methods: : The characteristics of patients with BBAs of the ICA from January 2009 to January 2021 at our institution were reviewed. The features of aneurysms, treatment modalities, complications, and follow-up outcomes were retrospectively analyzed. Results: : A total of 130 patients (41 Tibetan and 89 Han patients) with BBAs of the ICA who underwent treatment were enrolled. Compared with the Han group, the Tibetan group significantly demonstrated a high ratio of BBAs among ICAs (8.6%, 41/477 vs. 1.6%, 89/5563; p<0.05), a high ratio of vasospasm (34.1%, 14/41 vs. 6.7%, 6/89; p=0.001), a high risk of ischemic events (43.9%, 18/41 vs. 22.5%, 20/89; p<0.05), and a low ratio of good outcomes (modified Rankin scale, 0–2) at the 1-year follow-up (51.2%, 21/41 vs. 74.2%, 66/89; p<0.05). The multivariate regression model showed that ischemic events significantly contributed to the prediction of outcomes at 1 year. Further analysis revealed that microsurgery and vasospasm were associated with ischemic events. Conclusion : In comparison with Han patients, the Tibetan population had a high ratio of BBA occurrence, a high incidence of ischemic events, and a high ratio of poor outcomes. The endovascular approach showed more benefits in BBA patients.

Objective: To understand physical fitness among primary and middle school students in Henan Province, so as to provide theoretical basis for physical fitness promotion among primary and middle school students. Methods: Based on data of National Survey on Student Physical Fitness and Health in Henan Province in 2019, a total of 42 734 students were investigated. The Z value of each physical fitness index were calculated by Z method, physical fitness index (PFI) was obtained to reflect the physical fitness condition synthetically. Physical fitness of different groups were compared, and associated factors of PFI were analyzed by multiple linear regression. Results: Lung capacity, grip strength, standing long jump, 50 m run, 50 m×8 shuttle run and PFI in boys were [(2 552.1±1 226.5)mL, (26.0±13.9)N, (171.0±43.7)cm, (9.3±1.8)s, (132.1±22.6)s, (1.4±3.6)], respectively, which were significantly higher than that of girls [(1 965.2±765.3)mL, (19.1±8.2)N, (142.4±26.6)cm, (10.5±1.4)s, (136.9±21.1)s, (-1.4±3.2)]( t =59.35,62.66,81.87,-74.92,-16.72,85.96, P <0.01). The seated forward flexion of boys [(7.0±7.5)cm] was significantly lower than that of girls[(11.8±7.1)cm], the difference was statistically significant ( t =-68.57， P <0.01). Significant sex differences were observed in physical fitness at different age ( P <0.01). There was a certain gap between urban boys and rural boys in terms of strength quality, endurance quality and flexibility quality, and the physical quality of urban girls was better than that of rural girls as a whole. The detection rates of poor eyesight, malnutrition, overweight and obesity, anemia and high blood pressure of primary and middle school students were 68.0%, 5.4%, 26.0%, 15.9% and 18.0%, respectively. Region, sex, age and nutritional status(malnutrition,overweight and obesity) were the influencing factors of PFI( β =-0.23,-2.92,-0.11,-1.19, -0.78 , P <0.05). Conclusion Physical fitness among primary and middle school students varies in gender, age group, region and disease condition in Henan Province. Scientific intervention should be administered, especially for rural, female students, senior students, undernourished and overweight and obese students, to improve health awareness and physical fitness.

Chemotherapy has occupied the critical position in cancer therapy, especially towards the post-operative, advanced, recurrent, and metastatic tumors. Paclitaxel (PTX)-based formulations have been widely used in clinical practice, while the therapeutic effect is far from satisfied due to off-target toxicity and drug resistance. The caseless multi-components make the preparation technology complicated and aggravate the concerns with the excipients-associated toxicity. The self-assembled PTX nanoparticles possess a high drug content and could incorporate various functional molecules for enhancing the therapeutic index. In this work, we summarize the self-assembly strategy for diverse nanodrugs of PTX. Then, the advancement of nanodrugs for tumor therapy, especially emphasis on mono-chemotherapy, combinational therapy, and theranostics, have been outlined. Finally, the challenges and potential improvements have been briefly spotlighted.

Gastric cancer is one of the common malignant tumors worldwide, characteri-zed by poor prognosis. Currently, screening, diagnosis and postoperative recurrence monitoring for gastric cancer rely heavily on methods such as endoscopy, imaging and pathological examinations. However, traditional diagnostic approaches have limitations, including invasiveness and low sensi-tivity. Liquid biopsy techniques, with circulating tumor DNA (ctDNA) detection as a representative, can identify and analyze free DNA released into the bloodstream by tumor cells. Liquid biopsy is less invasive and requires smaller sample volumes. Furthermore, ctDNA detection allows for repeated assessments over time, enabling longitudinal monitoring of tumor burden and molecular changes. It has played a crucial role in guiding treatment selection, evaluating treatment efficacy, and monitoring recurrence in various cancer types. Based on the latest literature and clinical practice, the authors elaborate on the research progress of ctDNA detection in gastric cancer.