Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis

Chromosome 1p duplications are rare. There have been only 11 reported cases of isolated 1p duplication, all of which were proximal, interstitial duplications. We present a patient with a terminal duplication of 1p (1p36.3). To our knowledge, this is the first such reported case. Our patient presented with metopic synostosis, rectal stenosis, atrial septal defect, and mildly delayed gross motor development. Molecular characterization using microsatellite marker analysis and fluorescence in situ hybridization (FISH) revealed an area of duplication between p58 and D1S2893, approximately 13 cM in size. We compare our patient's clinical findings with the clinical phenotype found in patients with the corresponding deletion of 1p36.3 and discuss the role of gene dosage in other deletion/duplication syndromes.     

pUDKH基因治疗制剂临床前安全性初步分析

目的：观察大鼠肌肉注射pUDKH后,出现毒性反应的时间、性质和程度,为临床毒副反应的监测和确定初始安全剂量提供依据.方法：实验设3个组,即正常对照组、pUDKH小剂量（0.63 mg/kg）和大剂量（2.50 mg/kg）组,给药途径为肌肉注射,且每只大鼠的给药方式相同,每只大鼠共给药14次,停药后观察16周.试验期间观测一般药物反应,分析尿液生化和血清生化,测定大鼠血清中抗人肝细胞生长因子（HGF）的抗体,目的基因HGF在多种组织内的分布,病理组织学检查各脏器的组织结构.结果：试验中给药组动物未见药物毒性反应,尿生化指标基本无有意义的变化,各时间点血清生化也无明显有意义的改变.各时间点血清样品中未检测到抗HGF抗体.除了注射局部的肌肉组织检测到高表达的HGF外,其他组织未见到高表达的HGF.各脏器病理学检查均未见异常改变.结论：大鼠肌注pUDKH剂量为0.63 mg/kg和2.5 mg/kg两种,分别是大鼠起始有效剂量的3倍和12.5倍,各项观测指标未见明显有意义的改变,故在本试验条件下可视2.50 mg/ kg以下为安全剂量,pUDKH基因治疗大鼠肢体缺血是安全、可行的.     

Unusual adrenal metastasis and abdominal carcinomatosis secondary to Hurthle cell carcinoma of the thyroid.

Hurthle cell carcinoma (HCC) of the thyroid is an uncommon and relatively rare differentiated thyroid neoplasm. To our knowledge, no reported case of adrenal metastases with abdominal carcinomatosis secondary to HCC of the thyroid has been demonstrated by F-18 FDG PET/CT imaging. One report of adrenal uptake on I-131 whole-body scan with HCC exists. In this case report, we describe a patient with HCC who had a left adrenal metastasis with abdominal carcinomatosis that was discovered using F-18 FDG PET/CT imaging.     

卡维地洛对改善压力负荷大鼠心室肥厚的作用

1);与B组比较.C组上述指标均有所降低(P<0.05).结论:卡维地洛能减轻压力负荷大鼠的心窒肥厚,下调过度表达的MMP-2及升高的TNF-α水平是其防治心室重构的机制之一.     

经头皮冠状切口行颧骨颧弓缩小整形及骨膜下除皱术

目的：探讨经头皮冠状切口行颧骨、颧弓缩小以及面中上部骨膜下除皱的手术方法。方法：采用头皮冠状切口入路，将颧骨、颧弓截断向内上方移位，降低颧突及颧弓高度，同期行骨膜下除皱术，对面部骨支架与软组织重新塑形。结果：本组22例患者，均行头皮冠状切口颧骨颧弓复合体缩小及骨膜下除皱术，部分患者以膨体聚四氟乙烯补片或帽状腱膜行中上面部凹陷填充，术后面部软组织及骨性结构均得到显著的年轻化改善效果，随访6～24个月，面部外观满意。结论：经头皮冠状切口同期行颧骨颧弓缩小成形及骨膜下除皱术，在改变面部骨性轮廓同时，解决皮肤松弛的问题，是面部年轻化手术的理想方法。     

Atelectatic children treated with intrapulmonary percussive ventilation via a face mask: Clinical trial and literature overview

BACKGROUND: Persistent atelectasis in children is lacking a gold standard treatment. Intrapulmonary percussive ventilation (IPV) is presented as a promising chest physiotherapy technique in the treatment of atelectasis. This study aimed to follow the evolution of atelectasis resolution with noninvasive IPV in young children and to detect eventual adverse effects. METHODS: Six children were hospitalized for respiratory distress with suspicion of atelectasis. A 15 min IPV treatment was immediately started at D1 twice a day for 5 days. Children were free of any other treatment. Chest X-Ray (CXR) was performed on the second day (D2) and was repeated 3 days later (D5). After the study, CXR were retrospectively reviewed by three specialists who had no knowledge of the clinical observations of the patients. They were asked to assess atelectasis by a score between 4 (complete collapse) and 0 (complete resolution). A clinical score on a maximum of 4 points was assessed by appetite deterioration, dyspnoea, mucus production and cough presence at D1 and D5 (1 point per symptom present). Paired t-test compared D1 and D5 results. RESULTS: All patients returned home after 5 days IPV. SpO2 normalized (93.2 +/- 0.8 to 95.3 +/- 0.8; P = 0.002) and patients all improved clinically (score, 2.8 +/- 0.9 to 0.8 +/- 0.6; P < 0.05). Out of four patients with radiographic evidence of atelectasis, three improved their atelectasis score. CONCLUSIONS: No side-effect or adverse effect was observed during IPV treatments. IPV was safe and effective in atelectasis resolution in 3/4 of the cases. Patients all recovered a stable clinical state. CXR improved in 4/5 children. They were all discharged home after 5 days of IPV treatment.     

Detection of Richter's transformation of chronic lymphocytic leukemia by PET/CT.

Our objective was to evaluate the accuracy of PET/CT for the diagnosis of Richter's transformation of chronic lymphocytic leukemia (CLL) to diffuse large cell lymphoma. METHODS: A retrospective study was performed of 37 patients with CLL who underwent 18F-FDG PET/CT at our institution between March 2003 and July 2005. All PET/CT scans were reviewed in consensus by 2 diagnostic radiologists. Sites of abnormal 18F-FDG uptake with a maximum standardized uptake value (SUVmax) of greater than 5 were considered highly suggestive of Richter's transformation. The PET/CT findings were correlated with histologic findings from bone marrow or lymph node biopsy performed within 6 wk of PET/CT and with clinical follow-up. RESULTS: The 37 patients (26 men and 11 women; mean age, 61 y, range, 40-82 y) underwent 57 PET/CT scans. In 10 (91%) of 11 patients with Richter's transformation, PET/CT detected sites of abnormal 18F-FDG uptake having an SUVmax of greater than 5. Richter's transformation was missed in 1 patient who had only low-grade 18F-FDG uptake (SUVmax < 5). Nine patients had false-positive PET/CT findings; in 3 of these patients, alternative malignancies were diagnosed (Hodgkin's disease; metastatic neuroendocrine carcinoma; non-small cell lung cancer). In all remaining patients, PET/CT correctly excluded Richter's transformation. For the specific diagnosis of Richter's transformation of CLL to diffuse large B-cell lymphoma, PET/CT had overall sensitivity, specificity, and positive and negative predictive values of 91%, 80%, and 53% and 97%, respectively. CONCLUSION: PET/CT can detect Richter's transformation of CLL to diffuse large B-cell lymphoma with a high sensitivity and a high negative predictive value.     

复方茶酮缓释片与茶碱缓释片双盲双模拟随机对照治疗支气管哮喘多中心临床试验

本研究以茶碱缓释片为对照，采用随机双盲双模拟多中心临床试验设计，评价复方茶酮缓释片治疗支气管哮喘的有效性和安全性。随机对照试验的药品按双盲双模拟要求制备，两组病人均服用3片试验药，复方茶碱缓释片每片含茶碱200mg，酮替芬1mg，对照药茶碱缓释片每片含茶碱100mg(双盲双模拟片一大二小），q12h，轻度病人1周，中度病人6周。 试验组103例，对照组100例，分别有50例和41例观察单剂量顿服的即刻平喘疗效。试验组和对照组1周临床有效率分别为90.9%和75.7%，肺功能改善率分别为87.9%和72.4%；6周临床有效率分别为82.9%和74.6%，肺功能改善率分别为90.8%和82.1%。即刻平喘试验表明两组均具有缓慢释放的特点。两组药物不良反应发生率分别为7.7%和9.0%。结论为复方茶酮缓释片是一有效而且安全的平喘药物。     

国产紫杉醇致急性中枢神经系统毒性1例

1例无法手术的老年男性小细胞肺癌患者,经2周期EP(依托泊苷+顺铂)方案化疗后病情进展,接受国产紫杉醇化疗,100 min后出现急性中枢神经系统毒性,具体表现为双手指端发麻、四肢颤抖、牙关颤抖及呻吟、问答合理但不可控制地重复答案。上述症状反复发作约8次,持续共4 h后完全缓解,无其他并发症发生。紫杉醇可导致急性一过性的中枢神经系统毒性,且与紫杉醇剂量无关,停药后可自行缓解。