Correlation of nuclear morphometry with clinicopathological features in breast cancer / 中国医师杂志

Objective:Under the new development of breast cancer diagnosis and treatment technology, the relationship between nuclear morphology and different clinicopathological characteristics of breast cancer was analyzed, and its clinical significance was evaluated.Methods:In TCGA (the Cancer Genome Atlas) BRCA (fast invasive carcinoma) data, 443 patients were divided into three groups according to the nuclear morphology: ⑴ the nuclear size and morphology were basically normal; ⑵ the nuclear size slightly increased; ⑶ the nuclear size slightly increased or the difference was obvious. Practical clinicopathological features including American Joint Committee on Cancer (AJCC) tumor stage, AJCC tumor score, AJCC lymph node score, estrogen receptor (ER) status by immunohistochemistry (IHC), progesterone receptor (PR) status by IHC, human epidermal growth factor receptor 2 (HER2) status by IHC and PAM50 subtypes are compared among groups defined by nuclear size. And nuclear size related morphometric parameters, including nuclear area, perimeter, roundness, width and height, are subsequently retrieved in 132 samples and analyzed for their relationship with clinicopathological features.Results:The nuclear size in breast cancer tissues was significantly correlated with survival, especially disease-free survival ( P=0.039). Other clinicopathological parameters, except AJCC T stage ( P=0.006), the immunohistochemical results of molecular markers ER ( P=0.002), PR ( P=0.047) and molecular typing of PAM50 ( P<0.001) were not significantly associated with the nuclear size of cancer tissues. The area, perimeter, roundness, length and width were correlated with each other; the roundness was the most stable parameter and negatively correlated with other parameters; the perimeter was the most sensitive index for identification, while roundness was not. Conclusions:Our research indicates that nuclear size, especially nuclear morphometric parameter, perimeter, provides a valuable clinicopathological index, which is useful not only in differentiating breast cancer cells from normal cells, but in differentiating molecular subtypes.

Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family / 中南大学学报(医学版)

Objective:To investigate the clinical features and feasibility genetic diagnosis in a hereditary hemorrhagic telangiectasia (HHT) family,and to explore the application of gene mutation testing in HHT diagnosis.Methods:Medical histories and clinical features of a family were analyzed to diagnose HHT patients and suspected individuals according to the clinical diagnostic criteria.Sequence analysis of endoglin (ENG) and activin A receptor like type 1 (ACVRL1) gene in the proband was performed with PCR and Sanger sequencing technology.After the possible pathogenic mutation was identified in the proband,the specific mutation was detected in the suspected individuals and part of other family members.Then the genetic diagnoses were concluded.Results:There were 5 family members in 4 generations manifested with epistaxis.According to the clinical diagnosis criteria,the proband with epistaxis,mucocutaneous telangiectases,visceral arteriovenous malformation and family history was diagnosed as HHT;while 2 survival family members with epistaxis and family history were suspected individuals.A substitution mutation in the 5'-untranslated region(5'-UTR) of ENG c.1-127 C＞T was detected in the proband and the 2 suspected individuals,which did not exist in other family members.Based on the clinical and genetic findings,the 2 clinically suspected individuals were diagnosed as HHT.Conclusion:There is great variability of the clinical manifestations among HHT patients.ENG c.1127 C＞T mutation is the possible pathogenic variant of the HHT family.A combination of clinical and genetic diagnosis could improve the diagnosis and treatment of HHT.

Analysis and test of piezoelectric micropump for drug delivery / 生物医学工程学杂志

With a microsystem or micropump, the release rate of drug delivery is able to be controlled easily to maintain the therapeutic efficacy. A piezoelectric membrane-valve micropump for implantable and carryhome drug delivery system is developed and tested. The influence elements of dynamic performance of the PZT actuator and valve were analyzed, and the calculation method of resonant frequency of the membrane valve was provided. Study results showed that the output performance of the micropump depended on the coupling effect of the actuator and valve. For a given actuator, the output value and the optimal frequency of a micropump could be enhanced only by valve design. Two micropumps with different valve dimensions were fabricated for comparing examination. The smaller -valve micropump obtained higher output values (the maximum flow rate and backpressure being 3.5 ml/min and 27 KPa, respectively) and two optimal frequencies (800 Hz and 3 000 Hz). The larger -valve micropump achieved lower output values (the maximum flow rate and backpressure being 3.0 ml/min and 9 KPa, respectively) and one optimal frequency (about 200 Hz). The test results suggest that the output values and optimal frequency of micropump can be improved by changing the valve dimension, and the viewpoint that checkvalve micropump works only with low acting frequency is wrong.