目的 探讨结肠原发性腺鳞癌和鳞癌的临床病理特征、诊断、发病机制及预后。方法 分析2例结肠原发性腺鳞癌和鳞癌的临床特点、组织学、免疫组化及基因检测特点,并结合相关文献进行讨论。结果 2例患者均因右下腹隐痛入院,平均年龄69岁,肿瘤均位于右半结肠。腺鳞癌可见腺鳞两种成分随机混合在一起,鳞癌成分免疫组化结果示CK5/6,P63均阳性,基因检测结果(ARMS-PCR法):腺鳞癌KRAS 2号外显子突变,BRAF未突变,鳞癌KRAS和BRAF均未突变。腺鳞癌患者术后放弃治疗1个月后死亡,鳞癌患者5个月后死于肝转移。结论 结肠原发性腺鳞癌/鳞癌非常少见,其临床症状与腺癌相似,但临床过程却更具侵袭性,预后相对较差,所以在临床中需得到重视。

Objective To study the clinicopathologic features, diagnosis, pathogenesis and prognosis of primary colon adenosquamous carcinoma and squamous cell carcinoma. Methods We analyzed clinical features, histological morphology, immunohistochemical results and gene mutation. Besides, relevant literatures were also reviewed. Results The two patients with an average of 69 years were admitted to the hospital due to abnormal pain. The tumors were all located in the right hemicolon. Adenosquamous carcinoma contained both components that mixed haphazardly. Immunohistochemistry showed that both CK5/6 and P63 were positive in squamous cell carcinoma. KRAS exon 2 mutations and BRAF wide-type were found in adenosquamous carcinoma patient, while KRAS and BRAF wide-type were found in squamous cell carcinoma patient using ARMS-PCR method. Adenosquamous carcinoma patient abandoned treatment and died after one month and the other died of liver metastasis in five months after surgery. Conclusion Primary colon adenosquamous carcinoma and squamous cell carcinoma are very rare. They have the similar clinical symptoms, more invasive clinical processes and worse prognosis compared with adenocarcinoma, therefore should be valued in clinic.

目的 探讨原发性肉碱缺乏症的诊断与治疗方案,对2例原发性肉碱缺乏症患儿及其家系行SLC22A5基因检测,确定基因突变位点,为家系提供遗传疾病的咨询。方法 用串联质谱技术对1例疑似患儿进行游离肉碱及多种酰基肉碱检测,对游离肉碱降低的患儿行SLC22A5基因突变检测,确诊PCD,对其姐姐行上述检查。对2例确诊PCD患儿补充左旋肉碱治疗,随访11个月。并对其家系行SLC22A5基因检测。结果 2例确诊PCD患儿,1例为临床患儿,另1例为其姐姐,无明显临床表现。2例患儿均检测到基因突变。2例患儿血游离肉碱水平低于参考值,伴多种酰基肉碱显著降低,均给予补充左旋肉碱治疗,1例治疗2月后症状改善,另1例未曾未发病,血游离肉碱及其他酰基肉碱水平上升至正常。2例患儿SLC22A5 c.760C>T,(p.Arg254X)纯合,致病突变;患儿父母亲SLC22A5基因的c.760C位点检测,发现:均携带c.760C>T,(p.Arg254X)杂合突变。结论 应用串联质谱技术检测血游离肉碱、多种酰基肉碱水平及SLA22A5基因突变检测诊断了2例PCD,均补充左旋肉碱取得较好疗效。SLC22A5基因c.760C>T,(p.Arg254X)突变是本家系中患有PCD的致病突变,用错义突变和剪切改变的分析手段对SLC22A5基因的外显子编码区进行直接测序可为PCD家系提供遗传咨询。

Objective To explore the diagnosis and treatment of primary carnitine deficiency. To identify potential mutation of SLC22A5 gene in two children affected with primary carnitine deficiency and provide genetic counseling. Methods We measured the free camitine(Co)and acylcamitine levels in a suspected clinical inherited metabolic diseases by tandem mass spectrometry. The SLC22A5 gene mutations were tested to the children with low Co level and the diagnosis was made. Then, We measured the free camitine(Co)and acylcamitine levels and SLC22A5 gene mutations in her sister. The children with PCD were treated with carnitine and followed up for 11 months. The SLC22A5 gene was detected in their family. Results In two children affected with PCD, 1 case was clinical children, another case of their sister was no obvious clinical manifestations. Mutations were found in all of them.The average C0 level in patients was lower than the reference value,along with decreased level of different acylcamitines. Two cases were treated with earnitine. Their clinical symptoms reduced 2 months later. Another case had not been sick. The CO level and different acylcamitines level in the blood rose to normal. A homozygous mutation C. 760C>T (P. Arg254X)of the SLC22A5 gene was detected in the two cases.Heterozygous mutation C. 760C>T (P.Arg254X) was also found in other family members. Conclusion Two patients were diagnosed with PCD by the test levels of free carnitine and acylcarnitines in blood with tandem mass spectrometry,and gene mutation test. L-carnitine supplement had a good effect in treatment of the PCD patients.C.760C> T (P.Arg254X) mutations of the SLC22A5 gene is the deleterious mutations for PCD families, The analysis method of the wrong mutagenesis and shear changes which is used to directly sequence the exons codes of the SLC22A5 gene can provide genetic counseling for PCD families.

目的 探讨治疗青年原发性高血压,联合使用硝苯地平控释片(CCB)与厄贝沙坦(ARB)对降压效果、肾功能及不良反应的影响。方法 2012年1月—2015年1月到我院就诊的青年原发性高血压患者共计180例。将患者按照首次就诊顺序编号,分为A、B两组各90例。A组患者CCB治疗,B组患者CCB联合ARB治疗。两周后比较两组患者降压效果、肾功能及不良反应发生率。结果 两组患者治疗前的收缩压、舒张压无差异(P>0.05); 治疗两周后,收缩压、舒张压均有下降,与治疗前相比,差异有统计学意义(P<0.05)。 B组患者血压下降幅度更大。两组患者间治疗后收缩压、舒张压的比较,差异具有统计学意义(P<0.05)。 两组患者治疗前24 h尿蛋白、24h尿白蛋白无显著性差异(P>0.05), 经两周治疗后,两项指标均有下降,与治疗前相比,差异有统计学意义(P<0.05)。 B组患者下降幅度更大。两组患者治疗后24 h尿蛋白、24 h尿白蛋白比较,差异有统计学意义(P<0.05)。 两组患者各项不良反应发生率均相当(P>0.05)。结论 在青年原发性高血压治疗中,联合使用CCB与ARB,能提高降压效果,改善肾功能,不增加不良反应,值得临床推广。

目的 探讨原发性脾脏肿瘤的诊断与治疗。方法 选取2006年1月—2014年12月期间收治的58例原发脾脏肿瘤患者进行临床观察。结果 脾脏良性肿瘤45例,其中脾血管瘤21例,脾囊肿11例,脾淋巴管瘤8例,脾脏窦岸细胞血管瘤3例,脾错构瘤1例,脾脏硬化性血管瘤样结节性转化1例;脾脏恶性肿瘤13例,其中脾脏B细胞淋巴瘤11例,脾脏霍奇金淋巴瘤及脾脏血管肉瘤各1例。B超和CT是主要的检查方法。全组行脾切除术51例,其中开腹脾切除术23例,腹腔镜脾切除术28例;部分脾切除术5例;脾切除+胰腺体尾部切除术2例。所有病例无手术并发症。术后随访9个月~9年,平均随访时间(43.8±21.3)个月,41例脾脏良性肿瘤患者预后良好,无复发和转移;11例脾脏恶性肿瘤患者的1、3、5年生存率分别为81.8%、63.6%和27.2%。结论 原发性脾脏肿瘤的诊断主要依靠临床表现和影像学检查。手术切除不仅是脾脏肿瘤一种有效的治疗手段,也是重要的确诊方法。脾脏局限性良性肿瘤可选择部分脾切除术以保留脾脏功能。早期手术及术后联合放化疗可改善脾脏恶性肿瘤的预后。

Objective To investigate the diagnosis and treatment of primary splenic tumor. Methods The clinical data of 58 patients with primary splenic tumor from January 2006 to December 2014 were retrospectively analyzed. Results 45 cases were benign splenic tumor, including 21 hemangioma, 11 splenic cyst, 8 lymphangioma, 3 littoral cell angioma, 1 hamartoma and 1 sclerosing angiomatoid nodular transformation of spleen. 13 cases were malignant splenic tumor, including 12 lymphoma and 1 angiosarcoma. Ultrasound and CT were the main diagnostic methods. 51 cases underwent splenectomy, including 23 open splenectomy and 28 laparoscopic splenectomy. 5 cases underwent partial splenectomy and 2 splenectomy combined distal pancreatectomy. There had no postoperative complications. The follow-up period was 9 months to 9 years. 41 cases with benign splenic tumor had no recurrence or metastasis. The 1-, 3-, 5-years survival rate were 81.8%, 63.6% and 27.2% respectively of 11 patients with malignant splenic tumor. Conclusion The diagnostic of primary splenic tumor mostly rely on clinical features and imagic examination. Surgical resection is not only an effective treatment, but also a confirmed diagnosis method for primary splenic tumor. Partial splenectomy is a reasonable procedure for local benign splenic tumor. Early surgery, combined adjuvant chemotherapy and radiotherapy are important for improving the prognosis of malignant splenic tumor.

目的 评价综合营养干预措施与传统的单纯药物治疗对花都区老年原发性骨质疏松 (OP)患者生命质量的影响。方法 采用随机法将符合标准的OP患者随机分配到干预组(A组)和对照组(B组)接受相应的干预处理。干预组给予综合营养干预措施,而对照组只给予单纯的抗骨质疏松药物。结果 干预组人群干预前后生命质量的8个维度中的6个维度得分与干预前比较,差别有统计学意义(P<0.05)。 对照组人群生命质量的8个维度中只有2个维度与干预前比较,得分间差别有统计学意义(P<0.05)。结论 综合营养干预措施可以提高老年OP患者的生命质量。

目的 探讨原发性肾上腺淋巴瘤的临床表现及诊疗方法。方法 总结我院收治的1例原发性肾上腺淋巴瘤患者的临床表现及诊疗方法,并回顾性分析国内外文献资料。结果 患者在全身麻醉下行右侧肾上腺肿瘤根治术+右叶肝部分切除术+膈肌修补术,取病理活检结果为(右肾上腺区、肝)弥漫性大B细胞淋巴瘤,术后使用R-CHOP方案规律化疗8次,随访1年患者已完全缓解,未见复发征象。结论 原发性肾上腺淋巴瘤是临床少见的恶性程度高的肿瘤,主要以弥漫大B细胞淋巴瘤多见,早期无明显特异性,且缺乏典型临床表现,临床上易误诊,一旦确诊,应及早手术并化疗以减缓疾病进展及减轻患者痛苦。

目的 研究血管紧张素转换酶(ACE)基因插入/缺失(I/D)多态性与新疆地区维吾尔族(维族)、汉族人群原发性高血压(EH)的关系。方法 采用聚合酶链反应(PCR)检测此两类人群104例原发性高血压(病例组、EH)及102例健康人群(对照组、NT)血中ACE基因16号内含子的I/D多态性。统计各基因型频率、等位基因频率,并采用Logistic回归分析剔除混杂因素后ACE基因I/D多态性与EH的关系。结果 两族人群的EH组与NT组D等位基因频率及基因型频率差异均没有统计学意义(P>0.05)。但经Logistic回归分析校正各种混杂因素后,两族人群EH的发病率与ACE基因(I/D)多态性相关(P<0.05)。结论 ACE基因I/D多态性可能为新疆地区维族、汉族EH的易感因素。

Objective To investigate whether the insertion deletion(I/D) polymorphism in the angiotensin converting enzyme(ACE) gene is associated with essential hypertension(EH) in Uighur and Han population of Xinjiang. Methods The study covered 104 hypertension patients (EH) and 102 normotensive controls (NT). The variant of ACE I/D was determined by polymorphism chain reaction (PCR). Logistic was used to analyze the ACE I/D polymorphism compared with ACE genotype. Results There was no significant difference between the EH and NT group about the genotype frequency and allele frequency(P>0.05). Using logistic regression analysis, adjusted for confounding factor, there was a relationship between EH and ACE gene I/D polymorphism(P<0.05). Conclusion The results suggest that the I/D polymorphism of ACE gene is associated with the EH in the Uighur and Han people of Xinjiang.

目的 检测年轻原发性高血压病患者(≤40岁)血清中D-二聚体(D-Dimer)、超敏C反应蛋白(CRP)的表达水平并观察两者的相关性。方法 收集原发性高血压病的年轻患者40例作为观察组,无高血压病等心脑血管疾病的社区居民40例作为对照组,晨起空腹抽血,电化学发光法测定血清D-Dimer、CRP表达量,同时行Pearson检验分析两者关联性。结果 观察组血清D-Dimer、CRP表达量较对照组均升高(P＜0.05),结果存在统计学意义;观察组D-Dimer、CRP阳性率较对照组均升高(P＜0.05);且两者相关,相关系数r=0.71,P＜0.01。结论 年轻原发性高血压病患者血清D-Dimer及CRP的表达量较无高血压病居民提高,且D-Dimer与CRP在机体内的表达存在相关性,上述两种血清标记物作为高血压疾病发生、发展评价指标的相关价值值得探究。

Objective To detect the serum D-Dimer and C-reactionprotein expression levels in essential hypertension patients and observe the correlation between both of them. Methods 40 young essential hypertension patients as observer group; and 40 persons without hypertension as control group. After taking the fasting blood, the serum level of D-Dimer and CRP was detected using electrochemiluminescence method. Simultaneously, the correlation of D-Dimer with CRP was tested using Pearson correlation coefficient. Results The serum level of D-Dimer and CRP was higher in young essential hypertension patients than those in the control group. And the difference was statistically significant (P<0.05). In 80 patients, the serum levels of D-Dimer and CRP were significantly correlated, and correlation coefficient r=0.71, there was significant difference (P<0.01). Conclusion D-Dimer and CRP are significantly increased in the serum of advanced young essential hypertension patients. And the serum level of D-Dimer is significantly correlated with the serum level of CRP in young essential hypertension patients. D-Dimer as an indicator of essential hypertension after review of the value worthy of further study.

目的 分析总结12例原发性肺淋巴上皮瘤样癌(LELC)的临床病理特点。方法 回顾性分析12例肺LELC患者的临床病理资料。结果 12例肺LELC患者的组织学标本中,肿瘤细胞均明显表达HCK,原位杂交EBER阳性率为91.7%。全组中位生存期61.3个月,2年和5年生存率分别为84.6%和57.7%。结论 原发性肺LELC临床罕见,发病可能与EB病毒感染有关,经及时治疗有较好的预后。

Objective To investigate the pathological and clinical significance of 12 cases with primary Lymphoepithelioma-like carcinoma of the lung (LELC). Methods Retrospectively detectded and analyzed the clincalpathological feature of 12 cases of LELC of the lung. Results Histological study showed that tumor cells were significantly expressed HCK by immunohistochemistry staining and showed out 91.7% positive rate of EBER by situ hybridization. In this series, the median survival time was 61.3 months. The overall 2 and 5 year survival rates of the 12 cases were 84.6% and 57.7%. Conclusion Pulmonary LELC is very rare. It may be associated with Epstein-Barr virus infection, and has a batter prognosis after therapy.

       目的   分析原发性肾病综合征（PNS）患儿在糖皮质激素（激素）治疗后淋巴细胞亚群及免疫因子的水平变化，以探讨PNS耐药机制。方法   选取PNS患儿共71例，正常对照组108例，收集PNS患者在激素治疗前、后及正常对照组儿童的淋巴细胞亚群［CD4⁺ 、CD8⁺ 、CD4⁺ /CD8⁺ 、CD19⁺ 和自然杀伤（NK）细胞］及免疫因子水平，并分析激素治疗后激素敏感患儿和激素耐药患儿相关指标的差异。结果  PNS患儿淋巴细胞亚群及免疫因子水平异常，激素治疗后PNS患儿总免疫球蛋白E（IgE）水平［767.50（270.25，1 937.50）IU/mL vs 311.00（62.70，757.00）IU/mL］（P=0.008）下降，而CD4⁺ T细胞比例［（33.88±7.42）% vs（38.25±7.16）%］（P=0.004）升高，激素治疗敏感患儿NK细胞比例高于激素治疗耐药患儿［（8.39±4.60）% vs（4.72±1.99）%］（P=0.034），IgE水平低于耐药患儿［311.00（62.70，633.00）IU/mL vs783.00（88.05，1 290.00）IU/mL］（P＜0.001）。结论  PNS患儿淋巴细胞亚群分布及免疫球蛋白水平异常，激素治疗可影响患儿CD4⁺ T细胞比例及IgE水平，并且NK细胞比例和IgE水平与患儿激素耐药相关。

       Objective  To evaluate the changes of lymphocyte subsets and immune factors levels in children with primary nephrotic syndrome（PNS），and explore the pathogenesis of PNS．Methods  A total of 71 patients with PNS and 108 normal control cases were selected．Flow cytometry was used to detect the concentration of lymphocyte subsets（CD4⁺ ，CD8⁺ ，CD4⁺ /CD8⁺ ，CD19⁺  and natural killer［NK］ cells）and immune factors before and after treatment．The difference of  related factors between steroid-sensitive and steroid-resistant children after therapy were analyzed．Results  Lymphocyte subsets and immune molecule levels were abnormal in children with NPS．The level of IgE（767.50［270.25，1 937.50］IU/mL vs 311.00［62.70，757.00］IU/mL，P=0.008）was significantly decreased after therapy（P＜0.05），while CD4⁺  T cells（［33.88±7.42］% vs［38.25±7.16］%，P=0.004）were significantly increased．The level of NK cells in steroid-sensitive children was significantly higher than that in steroid-resistant children（［8.39±4.60］% vs［4.72±1.99］%，P=0.034），while the level of  IgE was significantly lower than that of steroid -resistant children（311.00［62.70，633.00］IU/mL vs 783.00［88.05，1 290.00］IU/mL，P＜0.001）．Conclusions  The distribution of lymphocyte subsets and the level of immune factors in PNS children were abnormal．Steroid therapy could affect the levels of CD4⁺  T cells and IgE，and the levels of NK cells and IgE were related to steroid-resistance in PNS children．