Objective:To report and analyze a rare family of sponduloepiphyseal dysplasia congenital(SEDC) in order to supply more resources for genetic bone disease. Methods:Investigation and analysis was performed on a four generation's family of SEDC.Clinic characteristics including X-ray image and chromosome analysis were evaluated.Results:Nine persons suffered from SEDC in this four(generation's) family.The patients presented with same clinical characteristics.The main bone damages affected vertebrae,articulatio coxae,caput femoris and neck. Conclusion:The mode of inheritance of SEDC may be autosomal dominant inheritance.Gene defect during embryonic period may interfere the growth of osteoepiphysis.Further molecular pathologic studies were needed to find the evidence of genetic prognostication of SEDC.

Objective To evaluate lower extremity deep venous hemodynamic changes and lower extremity deep venous disease in abdominal obesity.Methods To compare venous flow parameters of the lower limbs as assessed by Duplex ultrasound scanning in obese and nonobese individuals according to body mass index(BMI).Venous hemodynamics were studied in a prospective cohort study in nonobese( BMI ＜ 25 kg/m2) and obese individuals( BMI ＞ 30 kg/m2 ).Diameter,peak,mean,and minimum velocities were assessed.Results The study examined 45 limbs in 24 nonobese individuals and 44 limbs in 22 obese individuals.The diameter of the femoral vein was significantly greater in obese vs nonobese limbs ( 10.4 ± 1.3) mm vs (7.1 ± 1.0) mm,P ＜ 0.01 ).Calculation of venous amplitude and shear stress showed significantly higher values in nonobese vs obese limbs [ ( 11 ± 5 ) vs ( 8 ± 3 ) cm/s ],( P ＜ 0.01 ) and [ (0.50 ± 0.17 ) vs ( 0.30 ± 0.09 ) ] dyn/cm2,( P ＜ 0.01 ).Spearman rank correlation revealed a significant inverse correlation between waist-to-hip ratios and waist circumference and velocities amplitude (peak ve locity-minim velocity),and shear stress.Conclusions Lower limb venous flow parameters differ significantly between obese and nonobese individuals.These findings suggest the mechanical role of abdominal adipose tissue potentially leading to elevated risk for both chronic venous insufficiency and venous thromboembolism.

Humans ; Leukemia, Promyelocytic, Acute ; genetics ; Oncogene Proteins, Fusion ; genetics ; Receptors, Retinoic Acid ; genetics ; Retinoic Acid Receptor alpha ; STAT5 Transcription Factor ; genetics

OBJECTIVETo observe the clinical safety and efficacy of decitabine in patients of acute myeloid leukemia and myelodysplastic syndromes (MDS/AML).

METHODSTotally 79 patients with MDS/AML were divided into three groups: (1)Treated with decitabine alone (20 mg/m² for 5 days). (2) Combination of decitabine with half dose CAG chemotherapy (Acla 20 mg qod×3 d, Ara-C 10 mg/m² q12 h×7 d, G-CSF 300 μg/d, the dose of G-CSF adjust to the amount of blood routine). (3)Combination of decitabine with CAG chemotherapy (Acla 20 mg qod×4 d, Ara-C 10 mg/m² q12 h×14 d, G-CSF 300 μg/d, the dose of G-CSF adjust to the amount of blood routine). We observed complete remission (CR) rate, overall response rate (ORR) and overall survival (OS) of the three groups; meanwhile, we analyzed the factors relevant to decitabine efficacy and the prognosis.

RESULTSORR in the three groups were 53.3%, 56.5% and 69.2% respectively, with no statistically significant differences (P>0.05). Due to the last follow-up at 2014.04.01, 20 patients still survived, 45 died, 14 were lost to follow-up. The 5-year cumulative survival rate of 79 patients was 25.3%, the 2-year survival were of the three groups were 34.8%, 24.8 and 29.2% respectively with no statistically significant differences (P>0.05). Adverse events of infection and bleeding were mainly caused by decitabine. Grade 3 to 4 hematological toxicities were observed in 72 cases with the average time for the lack of granulocytes as 14.8 days. 59 patients experienced infectious events, including grade 3 or 4 infections in 14 cases, grade 1 or 2 infections in 45 cases. There were no statistically significant differences (P>0.05) among the three groups in terms of infection rates, bleeding rates, duration of neutrophenia, mean MAP transfusion and mean platelet transfusion. 79 patients were safely through bone marrow suppression by anti-infective and supportive treatment without treatment-related deaths.

CONCLUSIONTreating MDS/AML with decitabine alone, in combination with half or one course CAG regimen produced high efficacy. ORR of the combination of decitabine with one course CAG regimen was relatively higher. Three groups of patients were all well tolerated.

Aclarubicin ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Azacitidine ; analogs & derivatives ; Cytarabine ; Granulocyte Colony-Stimulating Factor ; Humans ; Leukemia, Myeloid, Acute ; drug therapy ; Myelodysplastic Syndromes ; drug therapy