Myelodysplastic syndromes are a group of heterogeneous myeloid tumors and the prognosis is affected by a variety of factors.The pathophysiology of myelodysplastic syndromes (MDS) is unclear.Recent studies have shown that MDS patients have extensive genetic abnormalities.With the development of new genome sequencing technology,abnormal genes can be found in about 80％ of MDS patients.These molecular biological abnormalities have the prospect of guiding targeted therapy and disease surveillance,and can give a hope for the individualized management of heterogeneous hematological malignancies.Here,the prognostic factors of MDS,especially for MDS molecular biology in recent years have been reviewed.

Changes in IL-2/IL-2R system in 25 patients with thyrotoxic Graves disease and 20 eu-thyroids were investigated and compared with those of 15 normal controls. The thyrotoxic patients showed a high concentration of serum sIL-2R and a large amount of circulating IL-2R-?- cells but a decreased production of IL-2 by PBMC. However, these abnormalities had a tendency to become normal with improvement of the disease. The IL-2 was correlated with the percentage of IL-2R-?- cells and sIL-2R. This study may provide clues to the im-munopathogenesis in Graves Disease.

Objective To investigate the effect of high uric acid(HUA) on insulin sensitivity (IS) in 3T3-L1 adipocytes and its mechanism. Methods 3T3-L1 adipocytes were pretreated with HUA with or without NAC,and then stimulated by insulin. The cell viability of 3T3-L1 adipocytes was detected by CCK-8 assay. The glucose consumption was measured by glucose oxidase method. The levels of phospho-IRS-1,phospho-Akt and GluT4 protein were tested by western blot. Results HUA could inhibit insulin-induced glucose consumption,phosphorylation of Akt (Thr308),dephosphorylation of IRS-1 (Ser307) and the GluT4 protein expression (P<0.05). All the above could be blocked by NAC(P<0.05). Conclusion HUA can inhibit inulin stimulated IRS-1/Akt signaling and GluT4 expression,and thus induced insulin resistance in 3T3-L1 adipocytes.

Objective To investigate the effect of mechanical thrombectomy device Solitaire AB for the treatment of distal occlusion of the intracranial artery caused acute anterior circulation ischemic stroke. Methods The clinical data of 9 patients with arterial occlusion of distal anterior circulation treated by using the Solitaire AB thrombectomy device were analyzed retrospectively. Seven of them had M2 middle cerebral artery occlusion and 2 had A3 occlusion. Their clinical features,imaging data,treatment,and the results of 3-month clinical follow-up were analyzed. The effectiveness of treatment was evaluated through the recanalization rate after stent thrombectomy,the National Institutes of Health Stroke Scale (NIHSS)scores before and after treatment,the modified Rankin scale (mRS)scores,and the 3-month clinical follow-up results. The surgery-related complications and mortality of patients were used to evaluate the safety of the treatment. Results (1 )Of the 9 intracranial arterial occlusions,8 were recanalized successfully. The modified thrombolysis in cerebral infarction (mTICI)was 2b or grade 3. (2)The NIHSS score median 9. 5 (3. 0,15. 5)at discharge dropped significantly compared with 19. 0 (16. 0,22. 0)before procedure. (Z=2. 703,P=0. 007). No permanent complications related to operation occurred. Four of the recanalized patients had good prognosis (mRS 0-1)and 4 had disability (mRS 3-4 ). The mRS score of one non-recanalized patient was 4 at the 3 months follow-up. Conclusion The embolectomy effect is good whom using Solitaire AB device for acute occlusion occurred in the intracranial artery M2 or A3 segment. Its efficacy,safety,and indications still need to be further explored in a larger sample controlled trial.

Objective To investigate the relationship between JAK2 V617F mutation and vascular embolism diseases,in order to provide important basis for clinical diagnosis and treatment and prevention of embolism.Methods Patients who were hemoglobin ＞ 160 g/L,platelets ＞ 300×109/L treated in department of neurology,heart and vascular surgery in Xuanwu Hospital of Capital Medical University were collected.Vessel embolism and JAK2 V617F mutation situation and correlation were retrospectively analyzed.Results Among the total 56 cases,JAK2 V617F gene mutation positive rate was 37.50 ％ (21/56),the incidence of embolism was 40.07 ％ (23/56),there was correlation between JAK2 V617F mutation and embolism (P =0.014).Conclusion JAK2 V617F mutation is helpful to early diagnosis and treatment of myeloproliferative neoplasm,reduce thrombosis complication,improve the quality of life.

Objective To analyze CT findings of insulinoma,and to summarize the causes of missed diagnosis of nontypical insuli-noma.Methods Clinical and CT manifestations of 18 patients with 18 insulinomas were analyzed retrospectively which were proved by surgery and pathology,and the causes of the missed diagnosis of nontypical insulinoma were also summarized.Results 10 patients with 10 insulinoma underwent CT plain scan with isodensity in 9 and slightly lower density in 1 with thread-like capsule.Other 18 patients underwent enhanced CT scan,10 of whom showed obvious enhancement in arterial phase with isodentisy in 6 and slightly higher density in 4 in portal phase,and isodensity in 10 in delayed phase.4 lesions showed mild-to-moderate enhancement in arterial phase with slightly higher density than normal pancreas in 2 and isodentisy in 2 in portal phase,and slightly higher density than nor-mal pancreas in 1 and similar density to pancreas in 3 in delayed phase.In portal phase,the enhanced degree in 8 was similar to the pancreas,and that in 6 was slightly higher or higher than that of pancreas.In delayed phase,13 were similar to the pancreas and other 1 was higher than that.3 of 18 lesions were easily missed,and 4 lesions with missed diagnosis showed isodensity on plain CT and en-hanced CT,and were further detected by other imaging methods.Conclusion Multiphase enhancement CT scanning can be used as the first choice for the insulinoma.

0.05). The bone graft rate was 13% in senile group and 9% in non-senile group( P

Objective: To investigate the epidemiological characteristics of human brucellosis in Jiaxing City from 2010 to 2021, so as to provide insights into the development of the brucellosis control strategy. Methods: The epidemiological and clinical data of brucellosis patients and epidemiological data of brucellosis outbreaks in Jiaxing City from 2010 to 2021 were collected from Chinese Disease Control and Prevention Information System, and the epidemiological features and outbreaks of brucellosis were analyzed descriptively. Results: Totally 160 brucellosis patients were reported in Jiaxing City from 2010 to 2021, and the incidence of brucellosis appeared a tendency towards a rise (χ2trend=28.564, P=0.002), with annual mean incidence of 0.29/105. No deaths due to brucellosis occurred in Jiaxing City from 2010 to 2021. Brucellosis cases were reported each month, which were concentrated in the first and second quarters, and the greatest number was seen in May (27 cases, 16.88%). The brucellosis cases were predominantly reported in Tongxiang City (114 cases, 71.25%), and 75.00% were male (120 cases) and 70.63% were occupational populations (113 cases). The patients had a median (interquartile range) age of 57 (12) years at onset, and the median duration (interquartile range) from onset to definitive diagnosis was 18 (28) days. The clinical manifestations mainly included fever and weakness, and a total of 18 Brucella melitensis isolates and one B. bovis isolate were cultured. Conclusions The incidence of brucellosis was rising in Jiaxing City from 2010 to 2021. The brucellosis patients were predominantly reported in Tongxiang City in the first and second quarters, and young, middle-aged men and occupational populations were at a high risk of brucellosis.

Objective To investigate a Chinese pedigree suffering from Leydig cell hypoplasia ( LCH) based on clinical data and genetic diagnosis. Methods The patient was diagnosed by means of clinical data, hormone profiles, and human chorionic gonadotropin ( hCC) test. The luteinizing hormone/chorionic gonadotropin receptor(LHCGR) gene of the patient and family members was amplified and sequenced. Results The patient presented with male pseudohermaphroditism, low level of testosterone, which did not respond to hCG. Genetic analysis of the LHCGR revealed two novel mutations: a missense mutation located in exon 5, resulting in Ile replaced by Thr in the extracellular domain; and a splice site mutation in the 3' terminal of intron 6( IVS6-3 C→A). Proband's sister (46, XX) who lacked clinical manifestations showed the identical genotype with the patient. Conclusions A mutation in the consensus sequence of 3' splice site, in addition to a missense mutation (Ile 152Thr)in the extracellular ligand-binding domain is the cause of inactivation of the LHCGR gene in patient with Leydig cell hypoplasia.

Objective To analyze CYP17A1 gene mutation in a patient with 46,XY disordered sex development and to explore the possible influence on the phenotype of the patient.Methods Eight exons of CYP17AI gene in the patient and her parents were amplified and directly sequenced.In order to construct Mini-gene system,PCR fragments containing wildtype and mutant splicing sites were inserted in expression vector,and then transfected into cells.RT-PCR was used to observe the influence of splicing site mutation.Wildtype and aberrant splicing CYP17A1 cDNA expression plasmids were constructed and transfected into cells respectively,and CYP17A1 enzyme activity was tested in vitro.Results Mutation analysis revealed compound heterozygous CYP17A1 mutations,with Y329fs in one allele and a synonymous substitution( c.1263G＞A:GCG＞GCA) in another allele.In vitro analysis showed that the synonymous substitution induced a novel splicing site,which resulted in aberrant splicing of CYP17A1 mRNA and lacked six or seven amino acids after 415 in splicing product.In vitro transfection and enzyme activity experiment showed that the aberrant splicing product abolished the enzyme activity completely.However,this mutation did not completely influence splicing.The patient also had a part of normal splicing product,which was a coincidence to the phenotype of the patient.Conclusion This is the first description of an exonic splicing mutation in CYP17A1 relevant to the 17ot-hydroxylase deficiency phenotype.The functional study of the aberrant splicing variant has been initiated.