CREBBP gene encodes the transcriptional co-activator CREB-binding protein. This protein can participate in cell growth, differentiation and development through a variety of signal transduction pathways. Variants in this gene may cause syndromic deafness by affecting signal transduction pathways and development of skeletal and nervous systems. This review has summarized the structure and function of the CREBBP gene and the pathogenetic mechanism of syndromic deafness caused by CREBBP gene variants, with an aim to provide a basis for clinical diagnosis and treatment.
Humans ; CREB-Binding Protein/chemistry* ; Deafness/genetics* ; Mutation ; Animals ; Syndrome ; Signal Transduction

OBJECTIVE:To study the effects of spirulina kinase(SPK)on the vascular endothelial function of model rats with atherosclerosis. METHODS:60 rats were randomly divided into normal control group(distilled water),model group(distilled wa-ter),positive control group(simvastatin,0.005 g/kg)and SPK low-dose,medium-dose,high-dose groups(80,160,320 U/kg). Except for normal control group,rats in other groups were induced for model of atherosclerosis. All groups were intragastrically ad-ministrated relevant medicines at the same time,once a day for consecutive 12 weeks. Total cholesterol(TC),triglyceride(TG), low density lipoprotein cholesterol(LDL-C),high density lipoprotein cholesterol(HDL-C),interleukin-6(IL-6),tumor necrosis factor-α(TNF-α) contents in serum of rats were measured. And the changes of thoracic aortic endothelium morphology were ob-served by HE staining. RESULTS:Compared with normal control group,TC,TG,LDL-C,IL-6,TNF-α contents in serum of rats in model group were increased(P<0.01),HDL-C content in serum was decreased(P<0.01);vascular endothelial cells fell off, intimal proliferation projected into the lumen,smooth muscle cell proliferated and disordered,medium film elastic fiber disintegrat-ed and fractured. Compared with model group,TC,TG,LDL-C,IL-6,TNF-α contents in serum of rats in administration groups were decreased(P<0.05 or P<0.01),HDL-C content in positive control group and SPK medium-dose,high-dose groups was in-creased (P<0.05). Vascular endothelial cell morphology was improved significantly in administration groups,in which,vascular endothelial cells were structurally intact in SPK medium-dose,high-dose groups,inner membrane was basically smooth;medium smooth muscle cells arranged slightly disordered in SPK medium-dose group. Compared with normal control group,there were no obvious changes. CONCLUSIONS:SPK shows obvious lipid-lowering and anti-inflammatory effects,it can protect vascular endo-thelial function. The mechanism may be related to reducing TC,TG,LDL-C,HDL-C,IL-6,TNF-αcontents and increasing HDL-C content in serum.

Objective To investigate characteristics of cervical cytology and management in pregnant women. Methods From Aug. 2006 to Jan. 2010, 5152 pregnant women who received antenatal and postpartum examination underwent cervical cytological screening by liquid-based cytological test (LCT)in China-Japan Friendship Hospital. The cytological diagnosis was in accordance with the Bethesda system (TBS) 2001 diagnosis and classification system.The abnormal LCT results were followed up at 3 months after postpartum. The diagnosis of high-grade squamous intraepithelial lesions (HSIL) and squamous cell carcinoma (SCC) were based on colposcopic examination and biopsy during pregnant. The diagnosis of atypical glandular cells(AGC) was based on curettage and biopsy at postpartum 6 weeks. The histopathology of biopsy were compared and analyzed. Results ( 1 ) Cervical cytological changes related with pregnancy:among 5152 cases, it was found navicular cells in 3215 cases (62. 40% ), decidual cells in 783 cases ( 15.20% ), reactive glandular cells in 369 cases (7. 16% ), and trophoblastic cells in 55 cases (1.07%). (2) LCT results: among 5152 cases, the normal samples were 4125 cases (80.07%), the inflammatory samples were 542 cases (10.52%), and the samples of abnormal epithelial cells were 485cases (9.41%). Among those abnormal cases, 291 cases (5.65%) were in atypical squamous cells (ASC), 153 cases (2. 97%) were in low-grade squamous intraepithelial lesions (LSIL), 33 cases (0. 64%) were in HSIL, 1 case ( 0. 02% ) were in SCC and 7 cases (0. 14% ) were in AGC. (3)Histological pathology results: all women with HSIL and SCC underwent colposcopic examination and biopsy,it was found 28 cases in cervical intraepithelial neoplasia (CIN) Ⅱ - Ⅲ, 1 cases in adenosquamous carcinoma. 7 women underwent curettage and biopsy at postpartum 6 weeks which were diagnosed by AGC,the histopathological diagnosis was all negative. The concordance rate of cytopathologic and histopathologic diagnosis was 71%(29/41). (4) Follow-up: 485 women with abnormal LCT results were all followed up to 3 months at postpartum. Women with HSIL, SCC and AGC undergoing biopsy showed normal LCT results during follow-up. Those women with ASC and LSIL did not undergo colposcopic examination and biopsy. The regression rate was 72.3% (321/444) at postpartum 3 months. Conclusions The navicular cells were primarily morphological characteristics of cytology during pregnant and postpartum women. Some changes were easily confused with malignant lesions. It should be careful discrimination, and avoid excessively diagnosis and misdiagnosis. It suggested that we should follow up those women closely and expand the indication of colposcopic biopsy.