Objective To dynamically observe the developing process and characteristics of the chronic intra-hepatic hyperplastic nodule to small hepatoma with ultrasound,and to evaluate the value of ultrasound in the diagnosis of small hepatoma.Methods One hundred twenty-two chrome hepatitis cases with HBsAg(+),HBcAb(+)and HBeAg(+)were prospectively examined by two-dimensional ultrasound and three-dimensional reconstruction.Characteristics and diagnostic accuracy of two-dimensional ultrasound and three-dimensional reconstruction were compared with the results of hepatic biopsy.Results Thirty-four of 122 patients developed small hepatoma.The duration between hepatic fibrosis and liver cirrhosis was (6.30±2.31)years,and time of hepatoma changed from liver cirrhosis was (8.01±2.10) years.The intrahepatic hyperplastic nodule,shape of small hepatoma and relationship between tumor and ambient tissue were displayed clearly with three-dimensional ultrasound,and the number of detection with threedimensional ultrasound was much higher than that of two-dimensional ultrasound significantly.Conclusions Dynamic ultrasound examination of the echogenicity change of chronic hepatic lesion caused by HBV is useful for early detection of small intra-hepatic nodule,three-dimensional ultrasound reconstruction may enhance the accuracy in diagnosing small hepatoma.

This paper reported a pair of twin babies who were diagnosed as monochorionic (MC) twins (MC) in the first-trimester ultrasound scan after in vitro fertilization.Fluorescence in situ hybridization and chromosomal karyotype analysis of amniotic fluid that was randomly collected from one of the twins were performed in the second trimester,but no abnormality was detected.Chromosome karyotype analysis of peripheral blood of the twins at the age of two days and three years showed that both were chi 47,XY,+21/46,XX.And the single nucleotide polymorphism microarray analysis of oral mucosa cells of the twins at three years old showed that the boy was 47,XY,+21 and the girl was 46,XX.Therefore,we confirmed that they are MC dizygotic twins presenting with blood chimerism but no tissue chimerism.Simply the boy presented with facial features of Down syndrome.

Objective:To investigate the clinical and genetic features in a family with type 2 congenital generalized lipodystrophy, and to improve the understanging of this disease.Methods:The clinical symptoms, results of the laboratory, and radiography examinations of the patient and his family members were analyzed. The whole exome sequencing and Sanger validation were used to determine the genetic cause of the disease.Results:Generalized lipodystrophy, impaired liver function, severe hypertriglyceridemia, and acanthosis nigricans were found in the proband. His serum leptin level was much lower than normal value. The proband and three members of this family were confirmed to have insertion mutation at exon 5 of BSCL2 gene. The site was mutated from TTC to TCGGTC, resulting in the replacement of glutamate by aspartate and arginine. The mutation in proband was homozygote, and his father, mother, and brother were heterozygous.Conclusions:The mutation in exon 5 c. 545_546insCCG of BSCL2 gene leads to the occurrence of type 2 congenital generalized lipodystrophy.

OBJECTIVETo analyze the clinical features, therapeutic methods and prognosis of primary breast lymphoma (PBL).

METHODSTwenty-one PBL patients treated in Ruijin Hospital from January 2003 to December 2013 were included in this study, with 17 diffuse large cell lymphoma (DLBCL), 1 mucosa-associated lymphoid tumor (MALT), 1 follicular lymphoma (FL), 1 Burkitt lymphoma and 1 subcutaneous peniculitis T-cell lymphoma according to the WHO 2008 classification. Of 21 patients, only one patient with MALT has bulged tumor mass (>7 cm), other patients had tumor mass <5 cm. Six patients had core needle biopsy of tumor, 2 modified radical operation, and others tumor excision for diagnosis. All the patients received chemotherapy. The impacts of surgery, rituximab and prophylaxis with lumbar puncture on the outcomes of patients were analyzed. Survival was estimated using Kaplan-Meier method and compared by log-rank test. All the results were analyzed by SPSS 10.0.

RESULTSAmong 21 PBL patients, 19 achieved complete remission (CR), 1 partial remission (PR) and 1 disease progression (PD). Followed-up till July 2014, with median follow-up of 14 months (6-75 months), only one patient died, with 3-year survival of 92.3%. Compared with chemotherapy alone, the progression-free survival (PFS) of combination therapy (surgery plus chemotherapy) was significant longer (P=0.015), but without statistic differences of CR rate and overall survival (OS) between two groups. Among the 20 patients with CD20-positive tumor cells, 17 received Rituximab. PFS and OS, as well as CR rate of PBL had no difference between the treatment with and without Rituximab. The incidence of central nervous system (CNS) infiltration had no difference between patients with and without CNS prophylaxis through lumber-puncture and intrathecal injection.

CONCLUSIONWith the common subtype of DLBCL, PBL patients had good outcome. Surgery, as a method to obtain tumor samples for diagnosis, could not prolong OS of patients. Therefore, radical operation shouldn't be recommended. PBL was reported to have high risk of CNS events, but prophylaxis with lumber puncture and intrathecal injection couldn't decrease the incidence of CNS infiltration.

Breast Neoplasms ; Combined Modality Therapy ; Disease-Free Survival ; Humans ; Lymphoma ; Prognosis ; Remission Induction ; Rituximab

【Objective】 To investigate the efficacy and safety of using the fourth arm in retroperitoneal robot-assisted partial nephrectomy (PN) for cT1b stage renal tumors. 【Methods】 Clinical data of 49 patients with cT1b stage renal tumors who underwent retroperitoneal robot-assisted PN performed by the same surgeon in our hospital during Jan.2022 and Dec.2023 were retrospectively analyzed.The patients were divided into two groups based on whether the fourth arm was used or not: application group (n=21) and non-application group (n=28).The basic information, operation time, warm ischemia time, intraoperative blood loss, postoperative complications and other data were compared between the two groups. 【Results】 All operations were successful, with no conversion to open surgery or radical nephrectomy.The application group had significantly shorter operation time \[(128.76±31.58) min vs.(151.11±33.21) min, P=0.021\], shorter warm ischemia time \[(24.67±4.80) min vs.(27.61±3.54) min, P=0.017\], and less intraoperative blood loss \[(109.05±39.99) mL vs.(139.29±54.43) mL, P=0.037\] compared with the non-application group.The increase of postoperative creatinine was (18.64±16.05) μmol/L in the application group and (20.30±13.49) μmol/L in the non-application group respectively.Complications occurred in 3 cases in the application group and 5 cases in the non-application group, with no significant difference (P>0.05) . 【Conclusion】 When we perform the retroperitoneal robot-assisted partial nephrectomy for cT1b stage renal tumors, using the fourth arm can shorten the operation time and warm ischemia time, and reduce the intraoperative blood loss, which should be applied more in clinic.

Malignant cell transformation could be considered as a series of cell reprogramming events driven by oncogenic transcription factors and upstream signalling pathways. Chromatin plasticity and dynamics are critical determinants in the control of cell reprograming. An increase in chromatin dynamics could therefore constitute an essential step in driving oncogenesis and in generating tumour cell heterogeneity, which is indispensable for the selection of aggressive properties, including the ability of cells to disseminate and acquire resistance to treatments. Histone supply and dosage, as well as histone variants, are the best-known regulators of chromatin dynamics. By facilitating cell reprogramming, histone under-dosage and histone variants should also be crucial in cell transformation and tumour metastasis. Here we summarize and discuss our knowledge of the role of histone supply and histone variants in chromatin dynamics and their ability to enhance oncogenic cell reprogramming and tumour heterogeneity.