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原鈣粘蛋白與癲癇相關性研究進展

神經系統在人體發育中正常發揮著作用與許多因素有關，最為重要的是相互聯系的神經細胞，當其結構和功能發生變化時可能導致癲癇等神經疾病的發生。原鈣粘蛋白（Protocadherins，PCDH）是鈣粘蛋白家族（Cadherin Super family）中最大的亞類，包括 14 個同源蛋白和四個反義長鏈非編碼 RNA。PCDH 蛋白質在鈣存在的情況下介導神經組織中的細胞粘附，廣泛參與了突觸形成、神經元間連接及大腦發育等過程。作為神經發育過程中結構和功能的基本單位，神經元通過特殊的細胞間連接與其他神經細胞組成功能性神經回路，其細胞連接方式對于正常的神經功能的發揮起到重要作用。包括 PCDH 蛋白在內的細胞粘附分子是神經元之間識別、連接和相互作用的分子基礎，促進了功能性神經元回路的形成。已有研究表明編碼 PCDH 蛋白的基因發生變異時可導致癲癇的發生，但具體的發病機制和致病過程尚不清楚。本文主要圍繞 PCDH 蛋白與癲癇的關系，結合同源基因進化、基因表達和基因功能等方面的解析，梳理了近年來 PCDH 蛋白參與癲癇發病機制的最新進展。

乳腺癌前哨淋巴結微轉移

【摘要】　乳腺癌是女性最常見的惡性腫瘤之一，腋窩淋巴結的轉移狀況是乳腺癌患者最有價值的預后因素。乳腺癌前哨淋巴結活檢術的開展有望替代腋窩淋巴結清掃術，從而減少甚至避免腋窩淋巴結清掃帶來的疼痛、麻木、水腫、運動障礙等并發癥。常規病理技術無法確定存在于淋巴結的微轉移灶，而這些微轉移灶對乳腺癌的診斷、分期復發與預后判斷、綜合治療的選擇具有極其明顯的意義。較高的假陰性率是前哨淋巴結活檢的不利因素，不僅導致分期不準確，更重要的是影響了患者最佳治療方案的制定。對前哨淋巴結微轉移的檢測可以提高分期的準確性，改變一部分患者的治療決策。現就乳腺癌前哨淋巴結微轉移的相關情況做一綜述。

Xq28區域新基因突變導致的智力殘疾/共濟失調癲癇一例并文獻復習

Effects of Continuous Positive Airway Pressure on Serum Inflammatory Factors in Coronary Heart Disease Patients Complicated with Obstructive Sleep Apnea-Hypopnea Syndrome

Objective To investigate the changes and significance of serum inflammatory factors in coronary heart disease ( CHD) patients with obstructive sleep apnea-hypopnea syndrome ( OSAHS) , and the treatment effects of continuous positive airway pressure( CPAP) . Methods A total of 76 CHD patients in Renmin Hospital of Wuhan University from October 2007 to October 2008 were enrolled. Polysomnography ( PSG) was performed in these CHD patients to identify if they were complicated by OSAHS. The levels of inflammatory factors including TNF-α, IL-6, high sensitive C-reactive protein ( hs-CRP) in serum were determined in the CHD patients and 23 normal subjects. The CHD patients with moderate-severe OSAHS ( AHI≥15 episodes/hour) were treated by Auto-CPAP for 3 months and all parameters above were measured again. Results There were 41 /76 ( 53. 9% ) of CHD patients had moderate-severe OSAHS and were treated with CPAP. The levels of TNF-α, IL-6 and hs-CRP were significantly higher in the CHD patients than those in the normal controls ( all P lt; 0. 01) , and were significantly higher in moderate-severe OSAHS patients than those in the non-OSAHS CHD patients. Auto-CPAP ventilation significantly decreased the levels of inflammatory factors in the CHD patients with moderate-severe OSAHS. Conclusions An obvious proinflammatory state is detected in CHD patients, and is aggravated with OSAHS. CPAP is a useful treatment for CHD patients with mediate to severe OSAHS.

遺傳性先天性視乳頭大生理凹陷一家系

Influences of Inhaled Corticosteroids on CD4+ CD25+ Regulatory T Cells and Foxp3 mRNA of Asthmatic Patients

Objective To investigate the percentage of CD4 + CD25 + Treg cells and expression of Foxp3 mRNA in asthmatic patients and the impacts of inhaled steroids.Methods The percentages of CD4 +CD25 + Treg cells was assayed by flow cytometry and the expression of Foxp3 mRNA was detected by RT-PCR in peripheral blood mononuclear cells from the patients with chronic persistent asthma before and after steroids inhalation in comparison with healthy control. The forced expired volumin one second/predicted value( FEV1% pred) and peak expired flow( PEF) were measured by spirometry. Results The level of CD4 + CD25 + Treg cells and the expression of Foxp3 mRNA were lower in asthmatics before steroids treatment than those in control ( P lt; 0. 05) which were increased significantly after steroids treatment ( P lt; 0. 05) .FEV1% pred and PEF were declined significantly than those in control but improved markedly after treatment ( P lt; 0. 05) . Conclusions The insufficiency of amount and function of immue-suppressive CD4 + CD25 +Treg cells may play a role in the pathogenesis of asthma. Inhaled steroids can improve the lung function of asthmatics by upregulating the level of CD4 + CD25 + Treg and Foxp3.