Objective:To investigate the correlation between the expression of the immunohistochemical marker cytokeratin (CK)-19 and the clinical characteristics and prognosis of dual-phenotype hepatocellular carcinoma (DPHCC).Methods:The data of patients diagnosed with hepatocellular carcinoma (HCC) who underwent surgical resection were collected. DPHCC cases were screened by immunohistochemistry, followed up, and grouped. The correlation between the expression of the immunohistochemical marker CK-19 and the clinical pathological characteristics and prognosis of DPHCC was analyzed by statistical methods. The enumeration data were compared using the χ2 test or Fisher's exact probability method between groups. Results:The expression of CK19 was significantly correlated with factors such as the tumor size, histological grade, liver tissue cirrhosis surroundings, microvascular invasion (MVI), and serum carbohydrate antigen 199 (CA-199) levels in DPHCC, and the differences were statistically significant ( P<0.05). There was no significant correlation between the expression of CK19 and the gender, age, tumor necrosis, multiple lesions, liver capsule invasion, serum alpha-fetoprotein (AFP), and immunohistochemical CK7 and mucin 1 (MUC-1) in DPHCC patients, and the differences were not statistically significant ( P>0.05). The results of univariate analysis showed that immunohistochemical CK19 expression, MVI, number of lesions, tumor necrosis, tumor differentiation degree, serum AFP, and carbohydrate antigen 199 levels were related factors affecting the prognosis in DPHCC patients ( P<0.05); while gender, age, capsule invasion, tumor size, and expression of immunohistochemical markers (vascular endothelial growth factor, CK7, MUC-1) were not significantly correlated with the prognosis in DPHCC patients ( P>0.05). The results of multivariate analysis showed that tumor necrosis ( P=0.042, 95% CI: 1.031-5.501) and serum AFP levels were independent risk factors affecting the prognosis in DPHCC patients ( P<0.001, 95% CI: 2.581-24.075). Conclusions:The expression of CK19 is closely related to the prognosis of patients with DPHCC. Patients with high CK19 expression have faster disease progression than those with low CK19 expression. Furthermore, the overall survival rate of patients with high CK19 expression is significantly lower than that of patients with low CK19 expression, which is a risk factor for poor prognosis in patients with DPHCC.

Objective:To investigate the correlation between the expression of the immunohistochemical marker cytokeratin (CK)-19 and the clinical characteristics and prognosis of dual-phenotype hepatocellular carcinoma (DPHCC).Methods:The data of patients diagnosed with hepatocellular carcinoma (HCC) who underwent surgical resection were collected. DPHCC cases were screened by immunohistochemistry, followed up, and grouped. The correlation between the expression of the immunohistochemical marker CK-19 and the clinical pathological characteristics and prognosis of DPHCC was analyzed by statistical methods. The enumeration data were compared using the χ2 test or Fisher's exact probability method between groups. Results:The expression of CK19 was significantly correlated with factors such as the tumor size, histological grade, liver tissue cirrhosis surroundings, microvascular invasion (MVI), and serum carbohydrate antigen 199 (CA-199) levels in DPHCC, and the differences were statistically significant ( P<0.05). There was no significant correlation between the expression of CK19 and the gender, age, tumor necrosis, multiple lesions, liver capsule invasion, serum alpha-fetoprotein (AFP), and immunohistochemical CK7 and mucin 1 (MUC-1) in DPHCC patients, and the differences were not statistically significant ( P>0.05). The results of univariate analysis showed that immunohistochemical CK19 expression, MVI, number of lesions, tumor necrosis, tumor differentiation degree, serum AFP, and carbohydrate antigen 199 levels were related factors affecting the prognosis in DPHCC patients ( P<0.05); while gender, age, capsule invasion, tumor size, and expression of immunohistochemical markers (vascular endothelial growth factor, CK7, MUC-1) were not significantly correlated with the prognosis in DPHCC patients ( P>0.05). The results of multivariate analysis showed that tumor necrosis ( P=0.042, 95% CI: 1.031-5.501) and serum AFP levels were independent risk factors affecting the prognosis in DPHCC patients ( P<0.001, 95% CI: 2.581-24.075). Conclusions:The expression of CK19 is closely related to the prognosis of patients with DPHCC. Patients with high CK19 expression have faster disease progression than those with low CK19 expression. Furthermore, the overall survival rate of patients with high CK19 expression is significantly lower than that of patients with low CK19 expression, which is a risk factor for poor prognosis in patients with DPHCC.

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

A 79-year-old male patient with diabetes mellitus was given tolvaptan (15 mg orally once daily) combined with furosemide, levosimendan, and recombinant human brain natriuretic peptide for heart failure 7 years after coronary artery bypass grafting and clopidogrel, metoprolol, ezetimibe, insulin glargine, and liraglutide were given concomitantly for coronary atherosclerotic heart disease and diabetes mellitus. Three days later, his heart failure symptoms were improved, but he developed hypernatremia. His blood sodium rised from 136 mmol/L on admission to 152 mmol/L. After stopping tolvaptan, the serum sodium level continued to rise, with a peak value of 168 mmol/L. After relaxing his water intake restriction, serum sodium gradually decreased to 160 mmol/L. On the 4th day of drug withdrawal, dapagliflozin (5 mg orally once daily) was added; on the 5th day, the blood sodium was 146 mmol/L.

A 79-year-old male patient with diabetes mellitus was given tolvaptan (15 mg orally once daily) combined with furosemide, levosimendan, and recombinant human brain natriuretic peptide for heart failure 7 years after coronary artery bypass grafting and clopidogrel, metoprolol, ezetimibe, insulin glargine, and liraglutide were given concomitantly for coronary atherosclerotic heart disease and diabetes mellitus. Three days later, his heart failure symptoms were improved, but he developed hypernatremia. His blood sodium rised from 136 mmol/L on admission to 152 mmol/L. After stopping tolvaptan, the serum sodium level continued to rise, with a peak value of 168 mmol/L. After relaxing his water intake restriction, serum sodium gradually decreased to 160 mmol/L. On the 4th day of drug withdrawal, dapagliflozin (5 mg orally once daily) was added; on the 5th day, the blood sodium was 146 mmol/L.

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.