Ornithine transcarbamylase(OTC)is a member of the transcarbamylase protein family,commonly found in the mitochondrial matrix of living organisms.It generally functions in a trimeric form and can catalyze the production of L-ornithine to L-citrulline.OTC is mainly expressed in the liver and intestines of mammals,playing an important role in the urea cycle and amino acid homeostasis.This article introduces the research progress of OTC genes,proteins,physiological functions,the impact of OTC deficiency on body health,and the diagnosis and treatment of OTC deficiency.

PURPOSE: Hidden blood loss (HBL) during the perioperative period significantly impacts postoperative recovery and complications, yet it is frequently disregarded. This study aimed to investigate the effects of tip-apex distance (TAD) and calcar-referenced tip-apex distance (calTAD) on HBL in the treatment of intertrochanteric fractures utilizing proximal femoral nail antirotation (PFNA). The study also seeks to evaluate the possible decrease in HBL subsequent to PFNA treatment by optimizing nail positioning. METHOD: A historical cohort study was conducted from January 2020 to December 2022. Patients diagnosed with unilateral acute closed femoral intertrochanteric fracture and who underwent PFNA internal fixation surgery met the inclusion criteria, and were grouped according to the value of calTAD and TAD. The participants were divided into low TAD group (TAD<20 mm) and high TAD group (TAD≥20 mm); low calTAD group (calTAD<7.625 mm) and high calTAD group (calTAD≥7.625 mm), respectively. The primary outcome measures were intraoperative blood loss (including HBL, overt blood loss, and total blood loss). Continuous data were analyzed using an independent sample t-test or Mann-Whitney U test, and categorical data were analyzed using the Pearson Chi-square test. Univariate analysis was used to evaluate the association between various indicators and perioperative HBL. A stepwise multiple linear regression analysis model was used to determine the independent factors affecting perioperative HBL. A p value less than 0.05 was considered statistically significant. RESULTS: A total of 131 patients were initially included, of which 80 were assigned to the calTAD group (with 61 in the high calTAD group and 19 in the low calTAD group), and 80 were assigned to the TAD group (with 34 in the high TAD group and 46 in the low TAD group). The average HBL for the low TAD group was 772.85 mL, whereas for the high TAD group it was 919.68 mL (p>0.05). The average HBL for the low calTAD group was 611.42 mL, whereas for the high calTAD group it was 904.97 mL (p<0.05). Subsequent analysis revealed that the patient's height, preoperative hemoglobin levels, changes in hemoglobin and hematocrit levels from pre- to post-surgery, and calTAD are independent risk factors influencing HBL. CONCLUSION In summary, our investigation revealed a significant correlation between the positioning of nails in PFNA and HBL during the perioperative period. By optimizing the placement of the cephalic nail, specifically by ensuring a calTAD of less than 7.625 mm, a significant decrease in HBL can be attained. Additionally, we identified that height, preoperative hemoglobin, differences in preoperative and postoperative hemoglobin and hematocrit, and the positioning of the cephalic nail were independent risk factors for HBL.
Humans ; Retrospective Studies ; Male ; Blood Loss, Surgical/prevention & control* ; Female ; Hip Fractures/surgery* ; Aged ; Fracture Fixation, Intramedullary/methods* ; Bone Nails ; Perioperative Period ; Middle Aged ; Aged, 80 and over

Type 2 diabetes (T2D) is an independent risk factor for cognitive impairment. The dysregulation of hypoxia inducible factor (HIF) signaling in T2D patients results in impaired adaptive responses to hypoxia, thereby accelerating the progression of complications. However, limited knowledge is available regarding its precise function in diabetes-associated cognitive impairment (DACI). Here, elevated HIF-1α levels were observed in brain endothelial cells (ECs) of db/db mice. Functionally, brain ECs-specific knockdown of H if1 a significantly ameliorated T2D-induced memory loss and neuronal damage. Glycolysis in brain ECs was inhibited in this process, as indicated by RNA-seq, leading to decreased hippocampal lactate production through reduced LDHA expression. Notably, T2D patients showed increased cerebrospinal fluid lactate levels, which were strongly associated with their cognitive dysfunction. Intrahippocampal injection of lactate accelerated cognitive dysfunction and impaired adult hippocampal neurogenesis (AHN) in db/db mice. Conversely, reducing hippocampal lactate levels through the intrahippocampal injection of oxamate delayed the onset of memory deficits. Furthermore, asiatic acid was discovered to protect db/db mice from cognitive impairment by decreasing brain endothelial HIF-1α expression and subsequently reducing hippocampal lactate-induced AHN damage. Overall, this study elucidates the inhibiting role played by endothelial HIF-1α-driven lactate in AHN and highlights a potential tactic of targeting HIF-1α in brain ECs for treating cognitive impairment.

BACKGROUND:As the end bearing joint of the human body,the ankle joint bears the top-down pressure of the body,which leads to the ankle joint is easy to be damaged in the movement,can induce functional ankle instability,which negatively affects daily life.The study of lower extremity biomechanics in patients with functional ankle instability during counter movement jump is of great significance for scientific training,prevention of ankle injury,and clinical rehabilitation after injury. OBJECTIVE:To investigate the kinetics and kinematics of lower limbs in the longitudinal jumping of functional ankle instability population. METHODS:From March to September 2023,15 male patients with functional ankle instability and 15 healthy people,aged 22-28 years old,were recruited in Soochow University.All subjects completed counter movement jump experiment.Vicon infrared high-speed motion capture system and Kistler three-dimensional force measuring table were used to simultaneously collect the lower limb kinematics and kinetics indexes of the two groups of subjects at the take-off stage of counter movement jump,the instant off the ground,the initial landing moment and the peak moment of vertical ground reaction force. RESULTS AND CONCLUSION:(1)At the instant off the ground,the affected side of the functional ankle instability group showed smaller knee internal rotation moment(P=0.020)and smaller ankle internal rotation moment(P=0.009)compared with the affected side of the healthy control group.(2)At the moment of landing,the affected side of the functional ankle instability group showed a smaller hip flexion angle than the affected side of the healthy control group(P=0.039).Compared with the healthy control group,functional ankle instability group showed smaller hip abduction angle(P=0.022),smaller knee varus angle(P=0.010),larger knee external rotation angle(P=0.021),smaller ankle varus angle(P=0.004),and smaller external ankle rotation angle(P=0.008).(3)At the peak of vertical ground reaction force,functional ankle instability group showed a smaller ankle varus angle than healthy control group(P=0.044).(4)The results showed that the lower limb biomechanical characteristics of the patients with functional ankle instability were abnormal compared with the healthy people during counter movement jump,which mainly showed the changes of the kinematics and kinetics indexes of the lower limb joints in the sagittal plane and the frontal plane at the moment of lift-off and landing.These changes reflect that people with functional ankle instability adopt rigid take-off and landing patterns when performing counter movement jump,tend to transfer the load of the affected ankle joint to other joints of the lower limb,and show compensatory phenomenon of the healthy lower limb.Therefore,detection and correction of abnormal biomechanical features should be a part of rehabilitation training for those with functional ankle instability.

Objective To analyze the risk factors for chronic mountain sickness(CMS)in young male migrants living in high-altitude areas and to construct a diagnostic model and evaluate its diagnostic efficacy.Methods From June 10 to December 29,2023,a cross-sectional study was conducted on young male migrants subjected with convenience sampling who had been living in high-altitude areas(4 500～5 000 m)for 6 months or longer.Their demographic data were collected and blood samples were collected for laboratory test.According to the Qinghai Score for Chronic Mountain Sickness,they were divided into CMS group and non-CMS group.Then the participants were randomly divided into a training set and a test set in a ratio of 8∶2.Independent risk factors for CMS occurrence were screened out,through random forest variable importance ranking,univariate and multivariable logistic regression analysis,and a diagnostic model was constructed based on these factors.Receiver operating characteristic(ROC)curve analysis,calibration curve analysis,clinical decision curve analysis,and influence curve analysis were used to comprehensively evaluate the diagnostic performance of the model.Results According to the inclusion and exclusion criteria,308 out of 376 participants were finally subjected,and 17.53%of them were diagnosed with CMS.The major clinical symptoms of the CMS patients were dyspnea or palpitations(79.63%)and sleep disorders(85.19%).Further analysis revealed that creatine kinase-MB/creatine kinase(CK-MB/CK,OR=2.17,95%CI:1.43～3.28),high-altitude residence time(OR=2.44,95%CI:1.08～5.54),and body mass index(BMI,OR=1.62,95%CI:1.05～2.50)were 3 major independent risk factors for CMS.The area under the curve(AUC)value of the CMS diagnostic model in the training set and test set was 0.821(95%CI:0.756～0.886)and 0.821(95%CI:0.700～0.944),the specificity was 66.30%and 73.90%,the sensitivity was 89.50%and 81.20%,respectively,indicating good discrimination ability.Hosmer-Lemeshow goodness-of-fit test showed consistency between predicted results and actual observations(χ2=10.029,P=0.263;χ2=4.477,P=0.812).Clinical decision curve analysis demonstrated that within the threshold probability range from 0.1 to 0.7,the net benefit of the model exceeded both full intervention and no intervention strategies.The influence curve analysis showed high consistency between the model predictions and actual incidence when the threshold probability exceeded 0.4.These two analyses together confirmed the clinical application value of the model.Conclusion CK-MB/CK,high-altitude residence time and BMI are independent risk factors for CMS,and their diagnostic model helps identify potential individuals at risk for CMS.Early intervention can prevent the harm of CMS to the health of young men migrating to high-altitude areas.

Objective To explore the diagnostic value of a combined model based on clinicopathological and MRI features in BRCA-mutated ovarian cancer.Methods The data of 132 patients with ovarian cancer who underwent pathology and BRCA gene tes-ting were analyzed retrospectively,including 52 cases of BRCA mutation group and 80 cases of BRCA wild group.The differences of MRI features and clinicopathological features between BRCA mutation group and BRCA wild group were compared.Binary logistic regression was used to construct a joint prediction model and analyze its diagnostic efficiency.Results There were significant differ-ences in cytokeratin 7(CK7),estrogen receptor(ER),Ki-67 and lymphovascular invasion(LVI)between the BRAC mutation group and the BRAC wild group(P＜0.05).Univariate analysis showed that CK7,ER,Ki-67,LVI and the apparent diffusion coefficient(ADC)value of the cystic part of tumor were risk factors for BRCA-mutated ovarian cancer.The combined model based on CK7,ER,Ki-67,LVI,and the ADC value of the cystic part of tumor for the diagnosis of BRCA-mutated ovarian cancer had an area under the curve(AUC)of 0.765.Conclusion CK7,ER,Ki-67,LVI and the ADC value of the cystic part of tumor are risk factors for BRCA-mutated ovarian cancer.The combined model based on the above characteristics demonstrates good diagnostic efficacy for BRCA-mutated ovarian cancer.

Objective To assess the efficacy of clear lens extraction combined with extended depth of focus(EDOF)intraocular lens(IOL)implantation in enhancing visual quality and concurrently opening peripheral angle structures in patients diagnosed with primary angle closure suspect(PACS)and presbyopia.Methods A total of 80 patients with PACS,presbyopia,and transparent lenses were enrolled and divided into two groups based on the type of implanted lens:a control group(n=46)and an experimental group(n=34).The control group underwent clear lens extraction followed by monofocal intraocular lens implantation,while the experimental group underwent clear lens extraction followed by extended depth of focus(EDOF)intraocular lens implantation.Preoperative and postoperative evaluations at 3 months included visual acuity,intraocular pressure,anterior segment structure,defocus curve,and Catquest 9SF-CN questionnaire scores.Adverse events were recorded to assess safety.Results Regarding the angular structure,after 3 months of treatment,results indicated significant increases in central ante-rior chamber depth,angle opening distance at 750 μ m,angle recess area at 750 μ m,trabecular-iris space area at 750 μm,and trabecular-iris angle at 750 μm in both groups compared to preoperative values(all P<0.01).However,no significant differences were observed between the two groups(all P>0.05).For the defocusing curve,visual acuity in the experimental group improved from+1.0 D to-4.0 D after 3 months of treatment(all P<0.05),while the control group showed improvements at+0.5 D,-0.5 D,-1.0 D,-2.0 D,-3.0 D,-3.5 D,and-4.0 D(all P<0.05).Postoperatively at 3 months,the experimental group exhibited superior visual acuity to the control group at-1.0 D to-4.0 D(all P<0.05).According to the Catquest 9SF-CN scale,scores in both groups significantly im-proved after 3 months of treatment(P<0.01),with the experimental group scoring higher than the control group(P<0.01).During the study,transient intraocular pressure elevation occurred in 7 patients(3 in the control group and 4 in the experimental group),but no serious adverse reactions were reported in either group.Conclusions In patients with pseudoexfoliation glaucoma combined with presbyopia,significant improvements in angle structures were observed following clear lens extraction.The implantation of an EDOF IOL notably enhanced postoperative visual quality compared to monofocal IOLs.

Objective To explore the efficacy of a model combining clinicopathological characteristics and multiparametric MRI features for predicting BRCA-mutated breast cancer(BC).Methods A total of 256 BC patients were retrospectively selected and divided into BRCA mutation group(116 cases)and BRCA wild group(140 cases)based on the BRCA results.Chi-square tests or independ-ent sample t-tests were used to compare the differences in clinicopathological characteristics and multiparametric MRI features between the BRCA mutation group and the wild group.Risk factors for BRCA-mutated BC were identified through univariate and multivariate logistic regression ananlyses,and a combined predictive model was constructed.Receiver operating characteristic(ROC)curve was used to ana-lyze the diagnostic efficacy of the model.Results There were statistically significant differences in T stage,human epidermal growth factor receptor 2(HER-2),Ki-67,non-mass enhancement,enhancement pattern,time-signal intensity curve(TIC)type,and apparent diffusion coefficient(ADC)values between the BRCA mutation group and the wild group.Univariate logistic regression analysis showed that T stage,HER-2,Ki-67,non-mass enhancement,enhancement pattern,TIC type,and ADC values were risk factors for BRCA-mutated BC(P<0.05).Multivariate logistic regression analysis revealed that T stage,HER-2,Ki-67,enhancement pattern,and TIC type were independent risk factors for BRCA-mutated BC(P<0.05).The combined model incorporating T stage,HER-2,Ki-67,enhancement pattern,and TIC type had the best diagnostic efficacy in predicting BRCA-mutated BC,with an area under the curve(AUC)of 0.751.Conclusion The combined model integrating T stage,HER-2,Ki-67,enhancement pattern,and TIC type has good efficacy in predicting BRCA-mutated BC.

Objective To develop an innovative minimally invasive rotary-cutting surgical system for axillary osmidrosis,and conduct clinical validation.Methods The design concept,technical principles and system composition of the innovative minimally invasive rotary-cutting surgical system for axillary osmidrosis were introduced.A total of 73 patients(146 axillae)with axillary osmidrosis were enrolled as subjects,and underwent surgery using the newly developed surgical system.Clinical validation of the system was performed by evaluating postoperative scarring,odor elimination rate,postoperative complication incidence,and patient satisfaction.Results The study demonstrated favorable clinical outcomes in the following aspects:postoperative scarring,odor elimination rate,postoperative complication incidence,and patient satisfaction.Conclusion The minimally invasive rotary-cutting surgical system for axillary osmidrosis is rationally designed.The rotary-cutting puncture device is safe,effective,minimally invasive,and convenient for axillary osmidrosis surgery,warranting further clinical validation and widespread application.

Transplantation-associated thrombotic microangiopathy（TA-TMA）is one of the severe complications after hematopoietic stem cell transplantation，and its specific pathogenesis has not yet been fully elucidated. In recent years，with in-depth research on TA-TMA，its pathogenesis has been gradually elucidated. It primarily involves multiple factors，including endothelial injury，aberrant activation of the complement system，and oxidative stress.Regarding treatment，in addition to conventional supportive therapy and etiology-directed management，various targeted therapies have emerged，including drugs like Eculizumab，recombinant thrombomodulin，defibrotide，and N-acetylcysteine.This article aims to systematically review the current research achievements and latest progress on the pathogenesis and treatment methods of TA-TMA，to provide references for the early prevention and treatment of TA-TMA.