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A parental diagnosis was performed for an unborn foetus of a healthy couple, who was due for ultrasound detection of multiple malformations and abnormal amniotic fluid karyotypes. For an accurate diagnosis, routine G-banding analysis and nextgeneration sequencing (NGS)were carried out. Finally, conventional cytogenetic analysis suggested that the foetus had a karyotype of47,XX,+mar[52]/46,XN,meanwhileNGSalso revealed a partial tetrasomy of 27.84Mbfrom4q26-q31.21 (117,385,735–145,225,759), and G-banding analysis excluded the couple to have carried the 4q26-q31.21 duplication. We have identified a de novo mosaic small supernumerary marker chromosomes (sSMC) derived from 4q26-q31.21 in a foetus with hemivertebra, polydactyly, abnormal ears, and heart and ventricular septal defect.
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Objective To investigate the effects of Notch signaling pathway on proliferation of insulin-induced endometrial carcinoma cells and apoptosis related protein expression levels.Methods The endometrial carcinoma Ishikawa 3-H-12 cell line was primarily cultured and subcultured in vitro.Then,the cultured cells were divided into five groups:the control group (3 mL PBS was added into the group),the insulin group (cells were stimulated by 1 × 106 mol/L insulin) and MW167 groups (different doses of γ-secretase inhibitor MW167 pretreated with insulin stimulation).After 48 h culturation,inhibition of endometrial carcinoma cell growth of each group was measured by MTT-colorimetric method,the apoptosis-related proteins (Caspase-3,Caspase-8) and Notch1 protein expression levels of each group were determined by Western blot.Results Insulin can promote Notch1 protein expression in endometrial carcinoma cells,after 48 h insulin stimulation,the Notch1 protein expression level was significantly higher than that in the control group (P＜0.05).MW167 can inhibit insulin-induced Notch1 protein expression in a concentration-dependent inhibition manner.The absorbance at 570 nm (A570) of endometrial carcinoma cells cultured for 24,48 and 72 h in different groups were significantly different (P＜0.05).The A570 values in the insulin group at each time point were higher than those in the control group (P＜0.05),and the insulin-induced endometrial carcinoma cell proliferation reached its highest level at 48 h.MW167 inhibited insulin-induced endometrial carcinoma cells proliferation in a concentration-and time-dependent manner,and 20 μmol/L MW167 persistently inhibited insulin-induced proliferation of endometrial carcinoma cells at 48 h.Western blot analysis showed that expression levels of Caspase-3 and Caspase-8 protein in the insulin group at each time point were lower than those in the control group (P＜0.05),and MW167 promoted the expressions of Caspase-3 and Caspase-8 in a concentration-and time-dependent manner.Conclusion MW167 can suppress the insulin-induced endometrial carcinoma cells proliferation and promote the expression of related apoptotic proteins by inhibiting Notch signaling pathway,and induce apoptosis of endometrial carcinoma ceils.
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Objective To investigate the effects of Notch signaling pathway on proliferation of insulin-induced endometrial carcinoma cells and apoptosis related protein expression levels.Methods The endometrial carcinoma Ishikawa 3-H-12 cell line was primarily cultured and subcultured in vitro.Then,the cultured cells were divided into five groups:the control group (3 mL PBS was added into the group),the insulin group (cells were stimulated by 1 × 106 mol/L insulin) and MW167 groups (different doses of γ-secretase inhibitor MW167 pretreated with insulin stimulation).After 48 h culturation,inhibition of endometrial carcinoma cell growth of each group was measured by MTT-colorimetric method,the apoptosis-related proteins (Caspase-3,Caspase-8) and Notch1 protein expression levels of each group were determined by Western blot.Results Insulin can promote Notch1 protein expression in endometrial carcinoma cells,after 48 h insulin stimulation,the Notch1 protein expression level was significantly higher than that in the control group (P＜0.05).MW167 can inhibit insulin-induced Notch1 protein expression in a concentration-dependent inhibition manner.The absorbance at 570 nm (A570) of endometrial carcinoma cells cultured for 24,48 and 72 h in different groups were significantly different (P＜0.05).The A570 values in the insulin group at each time point were higher than those in the control group (P＜0.05),and the insulin-induced endometrial carcinoma cell proliferation reached its highest level at 48 h.MW167 inhibited insulin-induced endometrial carcinoma cells proliferation in a concentration-and time-dependent manner,and 20 μmol/L MW167 persistently inhibited insulin-induced proliferation of endometrial carcinoma cells at 48 h.Western blot analysis showed that expression levels of Caspase-3 and Caspase-8 protein in the insulin group at each time point were lower than those in the control group (P＜0.05),and MW167 promoted the expressions of Caspase-3 and Caspase-8 in a concentration-and time-dependent manner.Conclusion MW167 can suppress the insulin-induced endometrial carcinoma cells proliferation and promote the expression of related apoptotic proteins by inhibiting Notch signaling pathway,and induce apoptosis of endometrial carcinoma ceils.
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<p><b>OBJECTIVE</b>To discuss the relationship between tinnitus and deafness, the clinical features and influencing factors in tinnitus patients.</p><p><b>METHODS</b>Data with previous medical history, clinical manifestation and audiologic examination results, etc. of tinnitus patients were collected to find out clinical features of tinnitus. The relationship between various factors and tinnitus was therefore established.</p><p><b>RESULTS</b>Average age of developing tinnitus syndrome was 53.2 +/- 0.9. Patients with lighter physical and mental work were the largest proportion (39.5%). Acute onset of tinnitus patients was more severe than that of chronicle (P < 0.01). Most of tinnitus melody was 8000 Hz (22.9%). Loudness of tinnitus concentrated in 5 - 10 dBSL. There was no severity of distinction between different patients with different tinnitus melody or loudness (P > 0.05). There were 75.6% patients showing sensorineural deafness. When the melody in the ears was high-frequency, hearing loss for the majority of patients was at high frequency region. Meanwhile, for the low frequency, speech frequency, hearing loss was also at the corresponding frequency region. There were 89.6% patients showing psychological adverse reactions, including irritability (83.8%), insomnia (63.7%), and inability to concentrate (30.3%).</p><p><b>CONCLUSIONS</b>The relationship between tinnitus and deafness are inseparable. So we should carry out periodically hearing testing to tinnitus patients with normal hearing or with high-risk population (45 years age to nearly 50 years old), in order to early diagnosis and intervention. Psychological adverse reactions are the main clinical features of tinnitus. It is important for the treatment of tinnitus to correct adverse psychological state.</p>