外耳道腺样囊性癌6例

目的：探讨外耳道腺样囊性癌的临床及病理特点，以提高诊断和治疗水平。方法：回顾性分析6例外耳道腺样囊性癌患者的临床表现、治疗及随访结果，其中5例行颞骨次全切除术（含外耳道全切除），1例行外耳道后下壁广泛切除及鼓室成形术。结果：全部患者术后随访8～21个月无复发。结论：外耳道腺样囊性癌生长缓慢，可长期带瘤生存，但远期预后不佳，首次治疗应该采用扩大根治性手术以提高治愈率。     

Trichoptysis caused by intrapulmonary teratoma: Computed tomography and magnetic resonance imaging findings

We describe a 9-year-old child with a history of trichoptysis caused by intrapulmonary teratoma and we present the CT and MRI findings of the teratoma. A heterogeneous mass containing cystic and solid elements was detected on both CT and MRI scans. Histopathological examination confirmed the diagnosis of teratoma. Teratomas arising from lung parenchyma, as in this case, are extremely rare in childhood. In the thoracic region, the most common localization of teratomas is the anterior mediastinal compartment. We also discuss the CT and MRI findings and the differential diagnosis of teratomas.     

CFTR基因变异致囊性纤维化1例报告并文献复习

目的探讨中国人群囊性纤维化基因型与临床表型的关系。方法回顾分析2015年3月收治的1例囊性纤维化患儿的临床资料,并复习相关文献。结果患儿,女,生后不久开始出现反复咳嗽、咳痰,肺部感染。9岁就诊时有重度营养不良,杵状指(趾),副鼻窦区压痛,双肺散在湿罗音;实验室检查提示胰腺炎;影像学检查提示合并鼻窦炎及支气管扩张;全外显子基因组测序示CFTR基因复合杂合变异,等位基因1,c.1766+5GT(NM_000492.3)剪接突变;等位基因2,c.2805delA:p.L935fs(NM_000492)移码突变;检出基因型匹配囊性纤维化临床表型。检索建库至2018年7月中国知网、万方及PubMed数据库,以"囊性纤维化"和"基因"为关键词组合检索,共检索到7篇文献,报道9例包含c.1766+5GT位点变异的囊性纤维化患儿,加上该例共10例。10例患儿均为中国人,且均以反复咳嗽、咳痰等肺部感染为主要表现,多数合并支气管扩张,仅部分合并胰腺功能不全。结论 c.1766+5GT位点可能是中国人特有的CFTR基因变异位点,与c. 2805 delA:p.L 935 fs变异构成新的复合杂合变异,其临床表型主要以呼吸道感染为主,较少累及消化道。     

Genotoxicity studies of glycidol fatty acid ester (glycidol linoleate) and glycidol

Glycidol fatty acid esters (GEs) are found in refined edible oils. Safety concerns have been alleged due to the possible release of glycidol (G), an animal carcinogen.     

Nasal endoscopic and CT scan alterations of the paranasal sinuses as predictors of severity in patients with cystic fibrosis

Cystic Fibrosis (CF) results from mutation in the transmembrane conductance regulator gene, responsible for controlling secretory processes. The upper airways (UA) are usually involved in the form of chronic pansinusitis.ObjectiveTo evaluate UA changes in patients with CF and to establish the correlations between sinonasal CT and endoscopic endonasal findings and disease severity.MethodCross-sectional and prospective study with 20 patients older than 5 years with CF, assessing the Shwachman-Kulczycki (S-K) score, paranasal sinus tomography (CT) (Lund-Mackay score) and nasal endoscopy (Meltzer score).ResultsCT scan alterations were observed in 94% of cases. Endoscopic alterations findings in the upper airways were found in 10 patients. Nasal polyps were found in 3 patients (15%). There was a correlation between the intensity of changes on the CT and S-K score (p = 0.0097), and between endoscopic findings and S-K score (p = 0.0318). There was a positive correlation between the presence of chronic colonization and endoscopic findings (p = 0.0325), which was not observed on the CT (p = 0.2941).ConclusionThere is an inverse correlation between the S-K clinical score and nasal endoscopy and CT findings. Therefore, patients who are clinically more severe according to the S-K score have greater UA involvement.     

5-氮杂-2'-脱氧胞苷对涎腺腺样囊性癌细胞系细胞MGMT和hMLH1基因表达的影响

目的 观察5-氮杂-2’-脱氧胞苷(5-aza-2-deoxycytidine,5-Aza-CdR)对体外培养人涎腺腺样囊性癌(salivary adenoid cystic carcinoma,SACC)细胞系细胞O6-甲基鸟嘌呤-DNA甲基转移酶(O6-methylguanine-DNA methyhransferase,MGMT)和人类mutL同源物1(homo sapiens mutL homolog 1,hMLH1)基因表达的影响,探讨DNA甲基转移酶抑制剂应用于SACC治疗的可行性及机制.方法 用不同浓度5-Aza-CdR分别处理体外培养SACC-83和SACC-LM细胞作为药物处理组,以药物处理浓度0 μmol/L为对照组.甲基噻唑基四唑法确定5-Aza-CdR的半数抑制浓度(half maximal inhibitory concentration of a substance,IC50)；实时聚合酶链反应和反转录聚合酶链反应检测用药后细胞中MGMT和hMLH1 mRNA表达水平.结果 药物处理细胞24 h后细胞形态发生变化,并且随时间延长变化愈加显著.5-Aza-CdR对SACC-83和SACC-LM细胞的IC50分别为(11.816±0.023)、(5.751± 0.049) μmol/L.经5-Aza-CdR处理后,SACC-83和SACC-LM细胞中MGMT和hMLH1 mRNA表达增高1～5倍,MGMT和hMLH1在药物处理组与对照组之间的表达差异有统计学意义(P＜0.01).结论 5-Aza-CdR可改变细胞形态,上调MGMT和hMLH1 mRNA的表达,其机制可能与5-Aza-CdR反转MGMT、hMLH1基因DNA启动子区高甲基化状态有关.     

Hairy polyp can be lethal even when small in size

A case of sudden cardiopulmonary arrest in a 3‐month‐old girl is presented. The patient had barely recovered from hypoxic encephalopathy when she presented with repeated respiratory distress. Computed tomography and endoscopic analysis revealed a shiny polyp in the lateral wall of the nasopharynx, and this polyp was suspected to be the main cause of respiratory distress. After referral to our hospital, surgical removal was performed, and the histopathological diagnosis was hairy polyp. Hairy polyp is a rare congenital benign tumor that sometimes induces respiratory distress. This polyp can potentially induce a life‐threatening event. In a systematic review of 40 reported cases, polyps of ≤3.0 cm in diameter have a higher risk of respiratory distress than do those >3.0 cm in diameter (P = 0.01). Small hairy polyps may be lethal because of delayed diagnosis. To locate small hairy polyps, physicians should not hesitate to perform further examination because there is the possibility of oversight with only physical examination.     

Cutaneous metastasis of breast adenoid cystic carcinoma to the scalp

Adenoid cystic carcinoma (ACC) is a tumor that can be of primary cutaneous origin or secondary to metastatic disease, most commonly salivary origin. Aside from primary cutaneous and salivary types, ACC of the breast is a rare, more indolent variant. Cutaneous metastases secondary to breast ACC is exceedingly uncommon and not previously reported to our knowledge. We present the case of a 67‐year‐old woman who developed cutaneous metastasis from primary breast ACC.     

Últimos avances sobre los tumores pancreáticos

Pancreatic cancer (PC) continues to have a very poor prognosis. New epidemiological trials suggest that statins could play a protective role in smokers, while HbsAg-positive hepatitis B virus could be a risk factor. Endoscopic ultrasound (EUS) is the main diagnostic tool for PC, and new technologies associated with this technique have emerged, such as quantitative elastography, intravenous contrasts or, more recently, LASER confocal endomicroscopy. New markers in urine or pancreatic juice have appeared to distinguish between PC and chronic pancreatitis. The role of the “on site” cytopathologist to increase the diagnostic yield of EUS-guided pancreatic sampling is completely supported by new prospective trials and some multicenter studies have been reported that compare the standard cytologic needles with the new procore-histology needles. Regarding cystic pancreatic tumors, most studies have aimed to validate the 2012 Sendai international guidelines and to ascertain predictive factors of malignancy in cystic lesions, mainly intraductal papillary mucinous neoplasm (IPMN). The role of intracystic CEA levels in determining malignancy is challenged. From a therapeutic point of view, EUS-guided radiofrequency ablation of cystic and solid lesions has emerged as a feasible and safe procedure in specific circumstances.