OBJECTIVE: To explore the genetic basis for a boy affected with Cohen syndrome. METHODS: A boy admitted to Children's Hospital of Nanjing Medical University in January 2021 was selected as the study subject. Genome DNA was extracted from peripheral blood samples from the child and his parents. Whole exome sequencing (WES) was carried out. And candidate variants were verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 202106060-1). RESULTS: WES revealed that the child has harbored compound heterozygous variants of the VPS13B gene, namely c.1563+1G>A and c.3007insC (p.A1003Afs*13), which were inherited from his mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rates as pathogenic. The c.3007insC (p.A1003Afs*13) was unreported previously. CONCLUSION The compound heterozygous variants c.1563+1G>A and c.3007insC (p.A1003Afs*13) of the VPS13B gene probably underlay the pathogenesis of Cohen syndrome in this child. Above finding has enriched the mutational spectrum of VPS13B gene.
Humans ; Male ; Vesicular Transport Proteins/genetics* ; Intellectual Disability/genetics* ; Muscle Hypotonia/genetics* ; Microcephaly/genetics* ; Fingers/abnormalities* ; Myopia/genetics* ; Obesity/genetics* ; Developmental Disabilities/genetics* ; Mutation ; Exome Sequencing ; Child ; Heterozygote ; Retinal Degeneration

ObjectiveThrough qualitatively and quantitatively analysis of the differences in chemical composition between the combined decoction and single decoction of Huaganjian and comparison of their core efficacy， to explore the rationality of the flexible clinical application of Huaganjian compound preparations and single-flavored dispensing granules. MethodsUltra performance liquid chromatography-quadrupole-electrostatic field orbitrap high resolution mass spectrometry（UPLC-Q-Exactive Orbitrap MS） was used to qualitatively analyze the combined decoction and single decoction samples of Huaganjian， and meanwhile， the contents of four index components（geniposide， paeoniflorin， hesperidin and paeonol） were quantitatively analyzed by high performance liquid chromatography（HPLC）. Nonalcoholic fatty liver disease（NAFLD） rat model induced by high-fat diet was applied to compare the efficacy of combined decoction and single decoction of Huaganjian. A total of 30 male SD rats were randomly divided into the control group， model group， lovastatin group（1.8 mg·kg^-1）， combined decoction group（1.26 g·kg^-1） and single decoction group（1.18 g·kg^-1）. After successful modeling， lovastatin group， combined decoction group and single decoction group were given corresponding doses of drugs by intragastric administration every day， and the control group and model group were given equal amounts of normal saline by intragastric administration， after 4 weeks of administration， the serum and liver tissues were collected， and the contents of alanine aminotransferase（ALT）， aspartate aminotransferase（AST）， total cholesterol（TC）， triglyceride（TG）， low-density lipoprotein cholesterol（LDL-C） and high-density lipoprotein cholesterol（HDL-C） in serum of rats were detected， and the liver pathological examination was carried out by hematoxylin-eosin（HE） staining and oil red O staining， so as to compare differences of their efficacy. ResultsSeventy chemical components were initially identified and attributed from the lyophilized powder of the combined decoction and single decoction samples of Huaganjian， and there was no obvious difference in composition between the two. Further quantitative analysis showed that the contents of geniposide， paeoniflorin， hesperidin and paeonol in the combined decoction samples were significantly increased when compared with those of the single decoction samples（P<0.01）. The pharmacodynamic results showed that compared with the model group， both the combined and single decoction groups of Huaganjian could improve the liver index of NAFLD rats， reduce the serum levels of AST， ALT， TC， TG and LDL-C， increase the serum level of HDL-C， and ameliorate the pathological changes of liver cell steatosis and fat accumulation. However， there was no significant difference in pharmacodynamic effects between the combined decoction group and the single decoction group. ConclusionThere is no significant difference between the combined decoction and single decoction of Huaganjian in terms of chemical composition， but the contents of the four index components show significantly difference. Both of them can significantly improve the fat accumulation and liver function in NAFLD rats. This study provides a reference basis for the rational clinical application and evaluation of famous classical formula compound preparations and single-flavored dispensing granules.

Recent advances in large models demonstrate significant prospects for transforming the field of medical imaging. These models, including large language models, large visual models, and multimodal large models, offer unprecedented capabilities in processing and interpreting complex medical data across various imaging modalities. By leveraging self-supervised pretraining on vast unlabeled datasets, cross-modal representation learning, and domain-specific medical knowledge adaptation through fine-tuning, large models can achieve higher diagnostic accuracy and more efficient workflows for key clinical tasks. This review summarizes the concepts, methods, and progress of large models in medical imaging, highlighting their potential in precision medicine. The article first outlines the integration of multimodal data under large model technologies, approaches for training large models with medical datasets, and the need for robust evaluation metrics. It then explores how large models can revolutionize applications in critical tasks such as image segmentation, disease diagnosis, personalized treatment strategies, and real-time interactive systems, thus pushing the boundaries of traditional imaging analysis. Despite their potential, the practical implementation of large models in medical imaging faces notable challenges, including the scarcity of high-quality medical data, the need for optimized perception of imaging phenotypes, safety considerations, and seamless integration with existing clinical workflows and equipment. As research progresses, the development of more efficient, interpretable, and generalizable models will be critical to ensuring their reliable deployment across diverse clinical environments. This review aims to provide insights into the current state of the field and provide directions for future research to facilitate the broader adoption of large models in clinical practice.
Humans ; Diagnostic Imaging/methods* ; Precision Medicine/methods* ; Image Processing, Computer-Assisted/methods*

Objective To investigate the achievement of early fluid resuscitation targets and factors influencing 28-day outcomes in patients with sepsis.Methods A retrospective cohort analysis was conducted.A total of 164 patients with sepsis admitted to the First Affiliated Hospital of Xinjiang Medical University between January 2022 and January 2024 were enrolled.Patients were divided into survival and death groups based on 28-day survival status,with both groups receiving early fluid resuscitation.Comparisons were made between groups for general characteristics[gender,age,body mass index(BMI),infection site,comorbidities],primary indicators[central venous pressure(CVP),mean arterial pressure(MAP),urine output],and secondary indicators[blood lactate acid(Lac),procalcitonin(PCT),heart rate,sequential organ failure assessment(SOFA)on intensive care unit(ICU)admission day,Glasgow coma scale(GCS),duration and dose of vasoactive medication use].Univariate analysis identified variables associated with prognosis,followed by multivariate Logistic regression to select independent risk factors.Receiver operator characteristic(ROC curve)were plotted to assess predictive performance of each risk factor for the 28-day prognosis of patients with sepsis.Results This study included 164 patients.The primary infection sites were mainly the lungs,abdominal cavity,and urinary system,accounting for 42.7%(70/164),38.4%(63/164),and 9.1%(15/164)respectively.The survival group comprised 141 patients,while the the death group included 23 patients.No statistically significant differences existed between groups in gender,BMI,infection site(soft tissue infection vs.others),underlying diseases,MAP,urine output(all P>0.05).Compared to the survival group,the death group showed significantly higher age,pulmonary infection rate,Lac levels,vasoactive drug duration/dose,heart rate,and SOFA scores,while the rates of abdominal,and urinary tract infection,as well as CVP,PCT,and GCS scores were significantly lower(all P<0.05).The achievement rates of early fluid resuscitation parameters:MAP target achievement was highest at 78.7%(129/164),followed by urine output compliance at 78.0%(128/164),while CVP compliance was the lowest at 39.0%(64/164).The overall compliance rate was 21.3%(35/164).Univariate analysis showed that age,pulmonary infection,Lac levels,duration and dose of vasoactive drugs,heart rate,PCT,GCS score,and SOFA score were all risk factors affecting the 28-day prognosis of patients with sepsis(all P<0.05).Multivariate Logistic regression analysis showed Lac levels,and pulmonary infection were independent risk factors affecting 28-day prognosis of patients with sepsis[odds ratio(OR)were 0.801,3.966,0.812,95%confidence interval(95%CI)were 0.711-0.903,1.149-13.696,0.674-0.979 respectively,P values were<0.001,0.029,0.029 respectively].ROC curve analysis demonstrated that age,Lac levels,and pulmonary infection all possessed predictive value for 28-day outcomes(all P<0.05).Age exhibited the highest predictive value with an AUC of 0.922.At the optimal cut-off of 76.6 years,sensitivity reached 95.7%and specificity 80.9%.Conclusion The overall achievement rate of early fluid resuscation in sepsis patients was low,with age,Lac levels,and pulmonary infection being major factors influencing poor prognosis.

Objective:To explore the clinical application of mobile-intelligent medical management system for gout patients.Methods:This study was a randomized controlled trial. One hundred and two patients with gout who visited rheumatology department of the First Hospital of Jilin University from January 2022 to October 2023 were randomly divided into study group ( n=53) and the control group ( n=49). Patients in the study group were managed by the mobil-gout(M-G) health management system which consists of a distant management plateform and an App. The body weight and blood uric acid levels were regularly self-tested by patients, and the information was sent to the system, the doctor gave feed-back advice on medication adjustment and dietary management every 2 weeks. While patients in the control group were managed following the conventional outpatient consultation mode. The serum uric acid levels, liver and kidney function tests and physical examinations were conducted on the day of enrollment and 3 and 6 months after treatment. The number of affected joints and the frequency of attacks were evaluated, and pain was assessed using the visual analog scale (VAS). The efficacy of treatment were compared between two groups. Results:After 3 and 6 months of treatment, the serum uric acid levels in study group were significantly lower than those in control group (408.0 (345.0, 450.0)μmol/L vs. 458.0 (409.0, 482.0)μmol/L, 371.0 (338.5, 409.0) μmol/L vs. 412.0 (368.5, 445.0)μmol/L; Z=3.37, 4.61, P<0.01); and VAS scores were also significantly lower than those in control group (6.66±1.46 vs. 4.68±1.80, 7.45±1.06 vs. 5.88±1.52; t=14.12, 13.72, P<0.01). After 6 months of treatment, the frequency of gout attacks in the study group was significantly lower than that in the control group ( χ2=9.30, P<0.05). As the follow-up period was extended, the average number of joints affected by gout attacks and the frequency of gout attacks in the study group showed a reducing trend compared to the control group, but the differences were not statistically significant ( P>0.05). Conclusions:The M-G medical management system can more effectively control uric acid levels and alleviate symptome for gout patients.

Intraoperative cell salvage (IOCS) has been widely applied as an important blood conservation measure in surgical operations. However, there is currently a lack of clinical practice guidelines for the implementation of IOCS in patients with malignant tumors. This report aims to provide clinicians with recommendations on the use of IOCS in patients with malignant tumors based on the review and assessment of the existed evidence. Data were derived from databases such as PubMed, Embase, the Cochrane Library and Wanfang. The guideline development team formulated recommendations based on the quality of evidence, balance of benefits and harms, patient preferences, and health economic assessments. This study constructed seven major clinical questions. The main conclusions of this guideline are as follows: 1) Compared with no perioperative allogeneic blood transfusion (NPABT), perioperative allogeneic blood transfusion (PABT) leads to a more unfavorable prognosis in cancer patients (Recommended); 2) Compared with the transfusion of allogeneic blood or no transfusion, IOCS does not lead to a more unfavorable prognosis in cancer patients (Recommended); 3) The implementation of IOCS in cancer patients is economically feasible (Recommended); 4) Leukocyte depletion filters (LDF) should be used when implementing IOCS in cancer patients (Strongly Recommended); 5) Irradiation treatment of autologous blood to be reinfused can be used when implementing IOCS in cancer patients (Recommended); 6) A careful assessment of the condition of cancer patients (meeting indications and excluding contraindications) should be conducted before implementing IOCS (Strongly Recommended); 7) Informed consent from cancer patients should be obtained when implementing IOCS, with a thorough pre-assessment of the patient's condition and the likelihood of blood loss, adherence to standardized internally audited management procedures, meeting corresponding conditions, and obtaining corresponding qualifications (Recommended). In brief, current evidence indicates that IOCS can be implemented for some malignant tumor patients who need allogeneic blood transfusion after physician full evaluation, and LDF or irradiation should be used during the implementation process.

Objective To investigate the effect of simple carbohydrate given 2 h before operation on postoperative insulin resistance and gastrointestinal function in elderly patients with trauma undergoing spinal anesthesia.Methods This was a randomized controlled clinical study.A total of 90 elderly patients with intertrochanteric femoral fracture/femoral neck fracture admitted to the Traumatic Orthopedics Department of the Fourth Medical Center of Chinese PLA General Hospital from October 2023 to February 2024 were randomly divided equally into control group(fasting with water before surgery)and carbohydrate group(CHO group,drinking 200 ml of pulsatile water at 2 h before surgery).All the patients received spinal anesthesia.The control group excluded 2 patients who completed surgery and were admitted to the ICU,2 patients received epidural anesthesia,and finally included 41 patients;3 patients were excluded from the CHO group under epidural anesthesia,2 patients underwent surgery under general anesthesia,and finally 40 patients were included.Baseline data of patients were collected,including gender,age,Charlson comorbidity index(CCI),presence or absence of diabetes,body mass index(BMI),American Association of Anesthesiologists(ASA)classification,etc.The patient's surgical time,intraoperative blood loss,first postoperative exhaust time,type of surgery,length of hospital stay,mean arterial pressure(MAP)and heart rate(HR)at four time points during surgery[entry(T1),post-anesthesia(T2),mid-operation(T3),and exit(T4)],perioperative blood glucose,insulin levels,C-reactive protein(CRP),and intestinal barrier function indicators(diamine oxidase,D-lactate,and bacterial endotoxin),as well as self-rating anxiety scale(SAS),visual analogue scale of pain(VAS),and Ramsay scores were recorded.Preoperative and postoperative use of the delirium diagnostic scale(3D-CAM)assessed the presence of delirium in patients.Results Eighty-one patients aged(77.7±9.5)years were included.Compared with control group,the first exhaust time in CHO group was significantly shorter[4.59(3.25,7.39)h vs.10.23(7.97,14.76)h,P<0.001],postoperative insulin resistance index(HOMA-IR)was significantly decreased[5.13(2.38,10.30)vs.7.34(2.31,12.55),P<0.001].The change rate of HOMA-IR(ΔHOMA-IR)also decreased significantly(P<0.001);There were no significant differences in intestinal barrier function indexes between the two groups(P>0.05);The levels of D-lactic acid and bacterial endotoxin in control group were significantly increased after operation,and the differences were statistically significant(P=0.010,P=0.031),In CHO group,there was no significant difference in preoperative and postoperative indexes(P>0.05).There was no significant difference in the perioperative scale score,incidence of delirium and the length of hospital stay between the two groups(P>0.05).Conclusions Taking simple carbohydrates 2 h before surgery can significantly shorten the first exhaust time,reduce insulin resistance and the incidence of delirium,and improve gastrointestinal function in elderly trauma patients undergoing spinal anesthesia,thus providing clinical basis for accelerated postoperative rehabilitation in elderly patients.

Objective To establish a rapid,sensitive,and specific multiplex PCR detection method for the simultaneous detection of Cryptosporidium,Eimeria,and bovine parvovirus.Methods Specific primers targeting the SSU rRNA genes of Cryptosporidium and Eimeria,as well as the VP2 gene of bovine parvovirus were designed and the corresponding recombinant plasmid standards were constructed.To establish the multiplex PCR method,the reaction conditions were optimized using temperature gradient PCR and single-variable control methods.The sensitivity,specificity,reproducibility,and clinical application of the protocol were evaluated.Results The optimal annealing temperature was found to be 60.5℃,and the forward and reverse primer concentrations were determined to be 0.2 μmol/L for Eimeria,and 0.4 μmol/L for Cryptosporidium and bovine parvovirus.The assay demonstrated high sensitivity,with detection limits of 243,260,and 3 110 copies for the recombinant plasmid standards of Cryptosporidium,Eimeria,and bovine parvovirus,respectively.Specificity testing showed no cross-reactivity with ten common bovine pathogens,including Salmonella,bovine viral diarrhea virus,and bovine rotavirus.Consistent intra-and inter-batch results confirmed the strong reproducibility of the method.Clinical application to 81 diarrhea samples from various regions in the Ganzi Prefecture,Sichuan,revealed positivity rates of 18.52%(15/81)for Cryptosporidium,34.57%(28/81)for Eimeria,and 18.52%(15/81)forbovineparvovirus,withamixedinfectionrateof3.7%(3/81).Conclusions Themultiplex PCR method established in this study offers a reliable tool for differential diagnosis and epidemiological investigation of the three common diarrheal pathogens in yaks.

Objective : To investigate the role and related mechanisms of IgD on the viability , proliferation , apoptosis , and other functions of Molm_13 cells. Methods: Peripheral blood serum was collected from AML patients and healthy controls. The sIgD levels were quantified by ELISA. For in vitro studies , Molm_13 cells were treated with varying concentrations of IgD. Cell viability and proliferation were assessed via CCK_8 assays , CFSE staining , and colony formation assays. Apoptosis rates were determined using an Annexin V/PI apoptosis detection kit. Preliminary exploration of the mechanisms related to IgD_induced proliferation of Molm_13 were analyzed through differential gene analysis. Results: Compared with healthy controls , the levels of sIgD in AML patients were significantly el_ evated (P < 0. 001 ) . IgD treatment dose_dependently increased Molm_13 cell viability and proliferation ( P < 0. 05) , inhibited apoptosis rates (P < 0. 001) . Conclusion IgD promotes the viability and proliferation of Molm_ 13 cells , and reduces apoptosis.