Inherited thrombocytopenia refers to a group of rare hereditary disorders characterized by a sustained reduction in platelet count. Different genetic mutations are associated with diverse clinical manifestations and prognoses, with certain mutations even predisposing to hematological malignancies. Next-generation sequencing (NGS) has enabled efficient identification of pathogenic variants in relevant genes, significantly advancing research progress, and numerous genes have been implicated in these disorders. This review expands the scope of relevant genes, refines the classification mechanism, and is not limited to a single population compared to previous research. It focuses on elucidating the genetic etiology and pathological mechanisms of inherited thrombocytopenia, while highlighting the critical role of identifying germline mutations in achieving precise diagnosis.

Recently, the National Cancer Center analyzed the disease burden and epidemiological trend of breast cancer based on the global population registration data, providing important reference for the prevention and control of breast cancer and health decision-making. Based on the current situation of prevention and control of breast cancer in China, this paper briefly interpreted the key points of the disease burden and trend of breast cancer.

Objective To explore the overall situation and development trend of the hierarchical diagnosis,to provide reference for further research direction.Methods Following databases,such as CBM,CNKI,Wanfang Database and VIP,were used to search for publications on this topic from the establishment of database to September 30th,2016.Bibliometric method was used to analyze these literatures,for instance periodical distribution,years,authors and regions;key words were taken into consideration.Results 243 literatures in total were included,the a number of publication is keep increasing every year.These papers were published in 91 kinds of journals,43.2 ％ of which were statis tical source journals.There were 221 first authors from 149 institutions distributed in 26 provinces and municipalities.There were only 18 core authors.The active regions of research were Beijing,Hubei,Sichuan and Shanghai.The research content mainly focused on two-way referral,utilization of medical service and medical insurance.Conclusions The quality of papers is low,research authors are widely distributed,the research strength is not strong enough.The research should be strengthened in extent and depth to transform the research outcomes to guide the actual practice.

Aim To investigate the alteration of Wnt/β-catenin signaling and sirtuins 1 in type 2 diabetic rats’ aorta and clarify its role in the development of di-abetes aortic disease. Methods The type 2 diabetes rat model was established by injection of streptozocin after five-week of high fat diet. The rats were randomly divided into control group, DM model group of 2 weeks, 4 weeks, 8 weeks and 12 weeks. Fasting blood glucose ( FBG ) , total cholesterol ( TC ) , triglyceride ( TG) , high density lipoprotein-cholesterol( HDL-C) , low density lipoprotein- cholesterol ( LDL-C ) and fast-ing insulin( FINS) levels were tested. HE staining was used to observe the pathological changes of aortal struc-tures. The alteration of Wnt2, β-catenin, TCF4, SIRT1 and sFRP2 in aortawas determined by Western blot and RT-PCR. Results Compared with control group, TC, TG, LDL-C levels of type 2 diabetic rats were significantly increased, HDL-C levels were signif-icantly reduced( P<0. 01 ) . Aortic histological analy-sis revealed that DM induced aortic endothelial cell vacuolar degeneration and necrosis. The expression of Wnt2 and β-catenin level increased significantly in the first 4 weeks of diabetic groups compared to control group, and that in model group of 8 weeks and 12 weeks kept in the high level and showed no significant alteration(P>0. 05). But the expression of TCF4 and SIRT1 was enhanced continuously in DM compared with control group while sFRP2 decreased in the duration of DM development. Conclusions Wnt/β-catenin signa-ling pathway was activated in diabetic aortal injury by regulation of SIRT1 via sFRP2 . Further researches on its mechanism of actionin DM aorta injury may find a new therapeutic target for the disease.

Objective To investigate the expression of p53 in breast cancer and its clinical significance .Methods The clinical pathological data of 214 cases of breast cancer patients were collected ,and retrospective analyzed of p53 protein expression and its correlation with clinical pathological features .Results The positive rate of p53 was 52 .3% .The expression p53 was no correlation with age ,the size of the lesion(P> 0 .05) ,it was correlation with lymph node metastasis ,histological classification and molecular subtype(r=0 .396 ,0 .309 ,0 .167 ,P=0 .000 ,0 .000 ,0 .014) ,and also have negative correlation with the expression rate of ER ,PR (r= -0 .561 ,-0 .315 ,P=0 .000 ,0 .000) ,positive correlation with HER2 and Ki67(r=0 .374 ,0 .153 ,P=0 .000 ,0 .026) .In the group of triple negative breast cancer (TNBC) and the group of non-TNBC ,the difference was statistically significant of expression of p53 (P<0 .05) .Conclusion p53 protein has closely related with the development ,relapse and metastases of breast cancer ,the detection of p53 can be used to guide the individualized therapy and as a reference index to evaluate the prognosis of breast cancer .

glucagonoma is a rare islet alpha-cell tumor. We report a case of glucagonoma in a 55-year-old male patient with such clinical findings of necrolytic migratory erythema, diabetes mellitus, body weight loss, and anemia. CT examination found a space-occupying lesion in the pancreas, and an elevated serum glucagon level indicate the diagnosis of glucagonoma, which was confirmed postoperatively by pathological examination of the tumor tissue. A definite diagnosis of glucagonoma relies on pathological report, and so far no standard treatment strategy has been available for this tumor. Surgical resection is an effective means for treatment of glucagonoma.
Glucagonoma ; diagnosis ; pathology ; surgery ; Humans ; Male ; Middle Aged ; Pancreatectomy ; Pancreatic Neoplasms ; diagnosis ; pathology ; surgery