Copy number variations in the human genome,one of the causes of complex diseases and genetic diseases,can lead to genomic disorders.As these diseases are difficult to diagnose,it is significantly meaningful to conduct genetic researches and molecular diagnosis.Chromosomal microarray can be used to detect copy number variations on a genome-wide scale.With the advantage of high throughput and resolution,chromosomal microarray is perceived as an important means of identifying copy number variations in genomic disorders.As technology advancements of chromosomal microarray and accumulations of clinical experiences,chromosomal microarray has played a significant role in etiological diagnosis of multiple malformations,mental retardation and autism.

Objective To explore the value of strain rate imaging (SRI) technology in the diagnosis of hypertension patient with re-gional left ventricular early diastolic dysfunction. Methods 50 essential hypertension patients were divided into hypertension Group Ⅰ and Group Ⅱ, including 31 patients with normal left ventricular and 19 patients with left ventricular hypertrophy. 25 healthy people were used as the control group. SRI was done in the six different basal myocardial segments and the parameters of SRI were compared with that of Doppler tissue imaging (DTI) and pulse Doppler (PW). Results In the hypertension group, SRe of the six different basal myocardial segments was lower than that in the control group (P<0.05), but (SRa) of hypertension group was higher (P<0.05). SRe was negatively correlated with the patients'illness development (r=-0.89, P<0.05), but SRa was positively correlated (r=0.97, P<0.05). And the SRe/SRa<1 detection rate of Group Ⅱ was higher than that in Group Ⅰ, and the ratio in the control group was lowest(P<0.05). Total detection rate of SRI (88%) was higher than Em/Am <1 of DTI (79.67%) and E/A < 1 of PW(60%), and these changes were more obvious in Group Ⅰ. SRI was higher than DTT and PW (P<0.05). Conclusion Compared with traditional technology and methods, SRI could pro-vide more accurate diagnoses to hypertension patient with regional left ventricular early diastolic dysfunction.

Objective To investigate the effects ofLiuwei-Dihuang Pills combined with Ginkgo Biloba Leaves Extract Tablets on diabetic complications in patients with type 2 diabetes mellitus (T2DM). Methods Seventy-eight patients with T2DM were randomized into a TCM treatment group and a conventional treatment group by random number table method, 39 in each group. The patients in the conventional treatment group were regularly using antihyperglycemic drugs or insulin. On the basis of conventional treatment group, the patients in the TCM treatment group were additionally treated withLiuwei-Dihuang Pills and Ginkgo Biloba Leaves Extract Tablets. Intima-media thickness (IMT) of internal carotid artery, vibration perception threshold (VPT) and diabetic retinopathy in both groups were detected before the treatment, 12 and 36 months after the treatment.Results The VPT in the left foot 12 months after the treatment in the TCM treatment group were significantly lower than that in the conventional treatment group (13.98 ±4.38 Vvs. 18.70 ±2.43 V;t=2.764, P=0.008). IMT of internal carotid artery (left: 0.81 ± 0.16 mmvs.0.70 ± 0.10 mm,t=3.120,P=0.003; right: 0.81 ± 0.17 mmvs. 0.73 ± 0.12 mm,t=2.286,P=0.026), VPT (left foot: 14.82 ± 6.45 Vvs. 20.63 ± 9.75 V,t=2.714, P=0.009; right foot: 16.73 ± 7.10 Vvs. 20.73 ± 10.35 V,t=2.001,P=0.048) and incidence of diabetic retinopathy (35.9%vs. 53.8%;χ2=5.804,P=0.016) 36 months after the treatment in the TCM treatment group were significantly lower than those in the conventional treatment group.ConclusionsLiuwei-Dihuang Pills combined with Ginkgo Biloba Leaves Extract Tablets can effectively reduce the progression of diabetic complications in patients with T2DM.

Purpose To investigate the clinicopathologic features of cervical adenoid basal cell carcinoma. Methods Clinical and pathological data were analyzed in 12 cases of cervical adenoid basal cell carcinoma and the relevant literatures were reviewed. Results The age of 12 cases of with cervical adenoid basal cell cancer patients ranged from 36~70 years ( mean:53. 3 years) , with a medi-an age of 51. 5 years. Amongst 12 patients who contained no gross definite lesion, 5 patients (41. 7%) had the symptoms of vaginal bleeding. 8 cases of patients underwent hysterectomy, while the other four received cervical conization. Cervical intraepithelial neopla-sia ( CIN) lesions were observed in all 12 cases. The tumor cells were small and uniform, with dark oval nuclei without conspicuous nucleoli and scanty cytoplasm. Tumor infiltrated into the stroma in nests and cords. Glandular differentiation within tumor nests were seen in 12 cases, including two cases of squamous cell differentiation accompanied by partial and minor interstitial edema. Peripheral palisading cells around tumor nests were also found. The infiltrating depth of tumor ranged from 0. 5~10 mm with the average 4. 12 mm. Cancer embolis were available in 2 cases with no lymph node metastasis. 10 cases followed up for 3~78 months with no recur-rence and metastasis, but 2 cases were lost. Conclusion Adenoid basal cell carcinoma is a rare uterine cervical tumor found in post-menopausal women, which are often accompanied with CIN. This tumor has a favorable prognosis and should be clearly separated from adenoid cystic carcinoma and other tumors which also have infiltrative growth pattern.

Objective To evaluate the clinical efficacy of 5-aminolevulinic acid-induced photodynamic therapy (ALA-PDT) in the treatment of condyloma acuminatum. Methods Thirty-six cases of condyloma acuminatum were treated with ALA-PDT. Results After the treatment, 33 (91.67%) patients were cured, 35 (97.22%) improved. Relapse occurred in 3 (8.33%) patients. Side effects were noted in 2 (5.56%) patients. Conclusions ALA-PDT is a relatively simple, effective and safe treatment with a lower recurrence rate for condyloma acuminatum, especially for small skin lesions or lesions at specific area. However, the high expense required for multiple treatments with ALA-PDT may restrict its application.

AIM:To compare the accuracy of conventional contact A-scan and IOL Master in measuring axial length and anterior chamber depth, and to evaluate the characteristics of these two different methods.METHODS:Totally 145 cases (189 eyes) who underwent phacoemulsification and intraocular lens implantation in our hospital from January 2015 to December 2016 were observed prospectively.They were divided into five groups according to ocular axial length measured by IOL Master(Group A:AL≤22mm, Group B:22mm28mm).The axial length and anterior chamber depth were measured by A-scan and IOL Master respectively before operation, corneal curvature was measured by IOL Master.AL≤22mm using Hoffer Q formula to calculate the crystal degree, AL>22mm using Haigis formula to calculate the crystal degree.Analysis of axial length, anterior chamber depth and mean absolute refractive error at 3mo after surgery.RESULTS:The axial length measured by A-scan and IOL-master:Group A were 21.48±0.41mm and 21.46±0.40mm (P>0.05);Group B were 23.13±0.62mm and 23.14±0.63mm(P>0.05);Group C were 25.24±0.56mm and 25.27±0.59mm(P>0.05);Group D were 26.97±0.59mm and 27.03±0.64mm(P>0.05);Group E were 30.76±1.40mm and 31.01±1.53mm(P<0.05).Mean absolute refractive error (MAE) at 3mo after surgery by A-scan and IOL Master:Group A were 0.50±0.30D and 0.43±0.27D(P>0.05);Group B were 0.48±0.34D and 0.45±0.32D(P>0.05);Group C were 0.56±0.32D and 0.49±0.40D(P>0.05);Group D were 0.64±0.16D and 0.50±0.22D(P>0.05);Group E were 0.91±0.47D and 0.62±0.29D(P<0.05), MAE≤±0.50D were 38.7% and 65%(P<0.05), MAE≤±1.00D were 69.2% and 83.3%(P>0.05).Anterior chamber depth measured by A-scan and IOL Master:Group A were 2.81±0.35mm and 2.82±0.41mm (P>0.05);Group B were 3.04±0.50mm and3.10±0.47mm (P>0.05);Group C were 3.55±0.62mm and 3.60±0.52mm (P>0.05);Group D were 3.42±0.24mm and 3.51±0.30mm(P>0.05);Group E were 3.50±0.28mm and 3.61±0.34mm(P>0.05).CONCLUSION:IOL Master and contact A-scan have a high degree of consistency in the biological measurement, IOL Master has higher accuracy for patients with high myopia and long axis.It is a simple, accurate, good-repeatable and non-contact measurement tool.

Objective To investigate the effect of capsaicin on hepatic stellate cells (HSCs) and liver fibrogenesis.Methods HSCs were cultured.The reactive oxygen in HSCs under capsaicin at different concentrations was tested by DCFH-DA kit.The proliferation of HSCs was detected by CCK-8 test kit.Smoothmuscle α-actin (α-SMA) expression of HSCs was evaluated by Western blot.The fibrosisrelated genes were tested by RT-PCR.The apoptosis of HSCs was measured by flow cytometer.Bcl-2,bax and cyt-c was detected by Western blot.A murine model of liver fibrogenes was established.Capsaicin of different concentration was injected intraperitoneally.Liver pathology was observed using HE staining.Hydroxyproline content of liver and levels of collagen Ⅲ and hyaluronic acid in serum were tested.Results In dose dependent manner capsaicin inhibited the generation of the reactive oxygen species.Proliferation and activation of HSCs was inhibited by capsaicin (respectively F =13.267,57.392,all P ＜ 0.05) and the apoptosis of HSCs was promoted by capsaicin (F =235.571,P ＜ 0.05).Bax,cyt-c and caspase-3 was increased obviously (respectively F =29.334,38.274,138.329,all P ＜ 0.05).Capsaicin changed the expression of fibrosis-related genes (TGF-β1,TIMP-1) in HSCs (respectively F =376.534,253.751,all P ＜0.05).Capsaicin downregulated the level of hydroxyproline,collagen Ⅲ and hyaluronic acid in the rat model (respectively F =153.397,27.149,38.392,all P ＜ 0.05).Conclusions Capsaicin inhibits the proliferation and activation of hepatic stellate cells.Capsaicin promotes the apoptosis of hepatic stellate cells,and inhibits liver fibrogenesis.

Evidence has indicated that low doses of anti-tumor regimens can induce cell apoptosis in vitro, although different regimens induce apoptosis by different mechanism and pathway. In recent years, new tumor treatment strategy has been mainly focused on inducing tumor cell apoptosis. The present review discusses the advantages and disadvantages of inducing tumor cell apoptosis. The benefit of inducing apoptosis is not to cause inflammatory reaction, but as its disadvantage, it inhibits immune responses, and the phagocytosis of apopotic bodies may result in horizontal transfer of genes (including oncogenes and other oncogenic materials), which can be one of the causes of tumor relapse. This paper proposes that the tumor treatment strategy should be turn into promoting tumor cell necrosis and inducing anti-tumor immune responses.
Antineoplastic Agents ; therapeutic use ; Apoptosis ; drug effects ; Humans ; Necrosis ; chemically induced ; Neoplasms ; drug therapy ; immunology ; pathology

Humans ; Infant, Newborn ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; congenital

Adult ; Anti-Inflammatory Agents, Non-Steroidal ; therapeutic use ; Arthritis, Rheumatoid ; diagnosis ; drug therapy ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Humans ; Male ; Middle Aged ; Phytotherapy ; Spondylitis, Ankylosing ; diagnosis ; drug therapy ; Tripterygium ; chemistry