Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Objective To explore the effects of exosomes derived from pancreatic cancer cells treated with or without gemcitabine on the proliferation and invasion of pancreatic cancer cells.Methods Exosomes were extracted from supernatant of pancreatic cancer cells treated with or without gemcitabine.Transmission electron microscopy,nanoparticle tracking analysis and Western blot method were used to identify exosomes and the concentration and size of exosomes were determined.Incubation of exosomes with pancreatic cancer cells was performed to detect the proliferation and invasion of pancreatic cancer cells,and Western blot method was used to detect the expression of CD147.Results Exosome-specific markers were highly expressed in extracted exosomes.There was no significant difference of concen-tration and size of exosomes derived from pancreatic cancer cells treated with or without gemcitabine.Incubation with exosomes derived from pancreatic cancer cells promoted the proliferation and invasion of pancreatic cancer cells,and incubation with exosomes derived from pancreatic cancer cells treated with gemcitabine promoted the proliferation and invasion further,and the expression level of CD 147 was up-regulated significantly in gemcitabine-induced exosomes.Conclusion Gemcitabine-induced exosomes derived from pancreatic cancer cells can promote the proliferation and invasion of pancreatic cancer cells.

OBJECTIVE: To explore the clinical and genetic characteristics of a Chinese pedigree affected by glycogen storage disease (GSD) type Ia with gout as the first manifestation. METHODS: Clinical and biochemical data of the pedigree were collected. Available members of the pedigree were subjected to gene sequencing, and the result was analyzed by bioinformatics software. The pedigree was followed up for five years. RESULTS: The proband was a young female manifesting recurrent gout flare, hypoglycemia, and hypertriglyceridemia. One of her younger brothers also presented with dysplasia and hepatic adenoma. Gene sequencing revealed that the proband and her younger brother both harbored c.1022T>A (p.I1e341Asn) and c.230+5G>A compound heterozygous variants of the G6PC gene , which were inherited from their father and mother, respectively. Among these, the c.230+5G>A is an intron region variant which was unreported previously, and bioinformatics analysis showed that it may impact mRNA splicing of the gene. The proband was treated with raw corn starch, allopurinol, and fenofibrate. Gout was well controlled, and she had given birth to a baby girl without GSD. CONCLUSION GSD Ia should be considered among young gout patients with hypoglycemia and hepatomegaly, for which gene sequencing is warranted. GSD Ia has a good prognosis after comprehensive treatment with diet and medicine.
China ; Female ; Glycogen Storage Disease Type I ; Gout/genetics* ; Humans ; Hypoglycemia ; Male ; Pedigree ; Symptom Flare Up

OBJECTIVE: To analyze pathogenic variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome (OCNS). METHODS: The 8-year-old boy presented with growth retardation, intellectual disability and spells of breath holding. With genomic DNA extracted from peripheral blood samples of the patient and his parents, whole exome sequencing was carried out. Putative pathogenic variants were verified with Sanger sequencing. The nature and impact of detected variants were predicted through bioinformatic analysis. RESULTS: A novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene was identified, which was unreported previously. The variant was predicted to be pathogenic by PolyPhen-2, Mutation Taster and SIFT software. Based on a HomoloGene system, 50 loci within the CK2alpha protein are highly conserved. The change of amino acid (Cys) at position 50 has destroyed the ATP binding loop domain, causing serious damage to its function. As predicted by a Swiss PDB viewer, the variant can significantly alter the spatial structure of CK2alpha, resulting in loss of protein function. CONCLUSION The patient's condition may be attributed to the novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene.

OBJECTIVE: To detect pathogenic variant in a juvenile with severe type Cornelia de Lange syndrome (CdLS). METHODS: A 12-year-old female presented with comprehensive developmental retardation and deformity of lower limbs. Genomic DNA was extracted from peripheral blood sample of the patient. Whole exome sequencing was performed to identify pathogenic variants. Putative variant was verified by Sanger sequencing. The impact of variants was predicted and validated by bioinformatic analysis. RESULTS: A de novo missense variant, c.1507A>G (p. Lys503Glu), was found in the NIPBL gene of the proband. The variant was unreported previously and predicted to be pathogenic by PolyPhen-2, MutationTaster and SIFT. Using HomoloGene system, the 503 loci in the NIPBL protein are highly conserved. The change of amino acid (Glu), locating in 503 locus, was found to cause the Neuromodulin_N superfamily domain destroyed, resulting in severe damage to the function of NIPBL protein. CONCLUSION The de novo missense variant c.1507A>G (p. Lys503Glu) of the NIPBL gene probably underlies the disease in this patient.
Cell Cycle Proteins ; genetics ; Child ; De Lange Syndrome ; genetics ; Developmental Disabilities ; genetics ; Female ; Humans ; Mutation, Missense ; Phenotype

Objective To explore the value of pelvic MRI combined with clinical information in diagnosis of endometrial cancer (EC) with ovarian malignant tumor (OMT) using decision tree analysis.Methods The clinical information and pelvic MRI characteristics of 58 cases with ovarian malignant tumor (EC-OMT group) and 743 cases without ovarian malignant tumor (EC group) were reviewed and compared.The diagnostic efficacy of pelvic MRI was evaluated.Decision tree analysis was used in determining the performance on the diagnosis.Results In EC-OMT group,the depth of myometrial invasion,the frequency of cervical and cornua uteri involvement,adnexal mass,pelvic or para-aortic lymph nodes involvement and peritoneum metastasis were higher than those in EC group (all P＜0.01).Para-uterine involvement showed no significant difference between two groups (1.72％ vs 0.40％,P=0.26).In diagnosis of EC with OMT,the sensitivity and specificity value of MRI was 51.72％ (30/58) and 99.87％ (742/743),respectively.Cornua uteri involvement,adnexal mass and CA125 level were screened as helpful indicators for pre-operation diagnosis by decision tree,and the sensitivity was 89.66％ (52/58).Conclusion The diagnosis model of pelvic MRI combined with clinical information by using decision tree analysis can promote sensitivity in diagnosis of EC with OMT.

OBJECTIVETo compare the diagnostic efficacies of 64-MDCT and 3.0-T MRI in determining the T stage of non-small cell lung cancer (NSCLC).

METHODSApproval from the institutional ethics committee and informed consent from patients were obtained before the study started. 40 patients with NSCLC proved by pathology were enrolled in the study. All the 40 patients underwent non-enhanced MRI, enhanced MRI, and enhanced MDCT. Their T stages were preliminarily evaluated according to these imaging manifestations by 3 groups of experienced chest radiologists respectively, and correlated with that of postoperative pathology using the Kappa test. The diagnostic efficacies of these three imaging modalities for determining the T stage of NSCLC were compared using the McNemar test.

RESULTSThe preoperative diagnostic accuracy rate for the T stage of NSCLC was 85.0% (34 of 40) by non-enhanced MRI, 87.5% (35 of 40) by enhanced MRI, and 80.0% (32 of 40) by enhanced CT, showing no significant differences between the non-enhanced MRI and enhanced CT, enhanced MRI and enhanced CT, and non-enhanced MRI and enhanced MRI for determining the T stage of NSCLC (P>0.05).

CONCLUSIONSCompared with the enhanced MDCT, non-enhanced MRI and enhanced MRI provide slightly superior diagnostic efficacy for the preoperative T staging of NSCLC. For the patients with intolerance to contrast medium on MDCT scan, 3.0T MRI may be an alternative for determining the preoperative T stage of NSCLC.

Carcinoma, Non-Small-Cell Lung ; diagnostic imaging ; pathology ; Contrast Media ; Humans ; Lung Neoplasms ; diagnostic imaging ; pathology ; Magnetic Resonance Imaging ; Multidetector Computed Tomography ; Neoplasm Staging ; Preoperative Period

Objective To compare the diagnostic efficacies of 64?MDCT and 3. 0?T MRI in determining the T stage of non?small cell lung cancer ( NSCLC) . Methods Approval from the institutional ethics committee and informed consent from patients were obtained before the study started. 40 patients with NSCLC proved by pathology were enrolled in the study. All the 40 patients underwent non?enhanced MRI, enhanced MRI, and enhanced MDCT. Their T stages were preliminarily evaluated according to these imaging manifestations by 3 groups of experienced chest radiologists respectively, and correlated with that of postoperative pathology using the Kappa test. The diagnostic efficacies of these three imaging modalities for determining the T stage of NSCLC were compared using the McNemar test. Results The preoperative diagnostic accuracy rate for the T stage of NSCLC was 85.0% (34 of 40) by non?enhanced MRI, 87.5% (35 of 40) by enhanced MRI, and 80. 0% ( 32 of 40 ) by enhanced CT, showing no significant differences between the non?enhanced MRI and enhanced CT, enhanced MRI and enhanced CT, and non?enhanced MRI and enhanced MRI for determining the T stage of NSCLC (P>0.05). Conclusions Compared with the enhanced MDCT, non?enhanced MRI and enhanced MRI provide slightly superior diagnostic efficacy for the preoperative T staging of NSCLC. For the patients with intolerance to contrast medium on MDCT scan, 3.0T MRI may be an alternative for determining the preoperative T stage of NSCLC.

Objective To compare the diagnostic efficacies of 64?MDCT and 3. 0?T MRI in determining the T stage of non?small cell lung cancer ( NSCLC) . Methods Approval from the institutional ethics committee and informed consent from patients were obtained before the study started. 40 patients with NSCLC proved by pathology were enrolled in the study. All the 40 patients underwent non?enhanced MRI, enhanced MRI, and enhanced MDCT. Their T stages were preliminarily evaluated according to these imaging manifestations by 3 groups of experienced chest radiologists respectively, and correlated with that of postoperative pathology using the Kappa test. The diagnostic efficacies of these three imaging modalities for determining the T stage of NSCLC were compared using the McNemar test. Results The preoperative diagnostic accuracy rate for the T stage of NSCLC was 85.0% (34 of 40) by non?enhanced MRI, 87.5% (35 of 40) by enhanced MRI, and 80. 0% ( 32 of 40 ) by enhanced CT, showing no significant differences between the non?enhanced MRI and enhanced CT, enhanced MRI and enhanced CT, and non?enhanced MRI and enhanced MRI for determining the T stage of NSCLC (P>0.05). Conclusions Compared with the enhanced MDCT, non?enhanced MRI and enhanced MRI provide slightly superior diagnostic efficacy for the preoperative T staging of NSCLC. For the patients with intolerance to contrast medium on MDCT scan, 3.0T MRI may be an alternative for determining the preoperative T stage of NSCLC.

OBJECTIVETo analyse the epidemiological feature, clinical characters and therapeutic regimens for von Willebrand disease(VWD).

METHODSThe clinical data and laboratory tests results of 162 VWD patients in our center were analyzed.

RESULTSThere were 76 males and 86 female among these patients with the mean age of 7.2(2.0-41.0) and 20.7(5.0-48.0) years, respectively. 86 patients (53.1%) were identified to be type 1 VWD, 34 patients (21.0%) type 3 VWD and 42 patients (25.9%) type 2 VWD. Among type 2 VWD patients, 33 patients were type 2A, 4 patients type 2M, 5 patients type 2B. Eighty-seven patients (53.7%) had a definite family history of bleeding tendency. The most common and specific bleeding symptoms were easy bruising (61.7%), epistaxis (53.7%), prolonged bleeding after surgery or minor injury (53.1%). Menorrhagia (66.3%) was common in female patients. The analysis of Vicenza bleeding scores in all patients showed that only 56(34.6%) patients had abnormal bleeding scores. FVIII/VWF concentrates and cryoprecipitate were applied to 45 patients (27.8% ), Desmopressin (DDAVP) to 8 patients. Eight female patients need oral contraceptives jointly to control menorrhagia. Hysterectomy had to be performed in 2 female patients with VWD.

CONCLUSIONVWD was a common congenital bleeding disorder with heterogeneous characters, it was necessary to screen, identify, classify accurately this disease in order to supply to effectively individualized treatment.

Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Young Adult ; von Willebrand Diseases ; diagnosis ; therapy ; von Willebrand Factor