目的 通过对未进行过商业基因检测(NCGT)社区居民和直接面向消费者的基因测试(DCGT)消费群体的调查,分析市场基因测试产品的消费构成和消费者社会特征与基因检测消费的相关因素。方法 采用分层随机抽样方法对广州市居民和直接面向消费者的基因检测非患者居民进行面访式调查,采用Logistics回归分析商业基因测试的相关社会学因素。结果 NCGT社区居民中其家庭成员进行过胎儿产前筛查基因检测的比例(26.3%)较高、DCGT人群因常规健康体检包含基因检测项目而进行基因测试的比例(44.8%)最高,儿童天赋基因的测试比例(23.3%)也相对较高,两个群体均认为基因检测的目的主要是预防疾病,信任的检测机构为医院。DCGT行为相关的社会学特征有婚姻(已婚vs未婚:OR=5.591,P<0.001)、学历(专科以上vs专科及以下:OR=0.071,P<0.001)、年龄(30～49岁组vs其他组:OR=0.223,P<0.001)、工作(全职vs其他:OR=4.660,P<0.001)、公费医疗(OR=1.183,P=0.021)和商业保险(OR=2.121,P=0.004)。结论 公众将基因测试看成是预防疾病和控制遗传性疾病的公共卫生手段,需要在医院将基因检测和个性化治疗对应起来。

Objective By investigating consumer groups that have no-commercial genetic testing (NCGT) community residents and direct-to-consumers genetic testing (DCGT), to analysze the consumer composition of market genetic testing products and the factors related to consumer social characteristics. Methods A stratified random sampling method was used to conduct a face-to-face survey of residents and non-patients of genetic testing in Guangzhou residents. The logistic regression analysis was used to analyze the sociological factors of commercial genetic testing. Results The proportion of children in the NCGT community who had prenatal screening for prenatal screening (26.3%) was higher, and the proportion of DCGT populations that were genetically tested for routine health checkups containing genetic testing (44.8%) was the highest. The proportion of test genes (23.3%) is also relatively high. Both groups believe that the purpose of genetic testing is mainly to prevent diseases, and the testing institutions for their trust are hospitals. The sociological characteristics associated with DCGT behavior are marriage (married vs unmarried: OR=5.591, P<0.001), education (specialist vs. specialist and below: OR=0.071, P<0.001), age (30~49 years vs others, OR=0.223, P<0.001), work (full-time vs other: OR=4.660, P<0.001), public medical care (OR=1.183, P=0.021) and commercial insurance (OR=2.121, P=0.004). Conclusion The public regards genetic testing as a public health tool for preventing diseases and controlling hereditary diseases, and it is necessary to correlate genetic testing with personalized treatment in hospitals.

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 分析慢性阻塞性肺疾病(chronic obstructive pulmonary disease,COPD)合并肺动脉高压(pulmonary hypertention,PH)的危险因素。方法 回顾2014年1月—2015年1月广州医科大学附属第一医院住院患者55例,经心脏彩色多普勒超声测量肺动脉收缩压(PASP),分为:轻度组(36≤PASP＜50 mmHg),中度组(51≤PASP＜70 mmHg)和重度组(PASP≥70 mmHg),分析比较三组临床特征,危险因素采用单因素及多因素Logistic回归分析。结果 年龄(75.3±11.6)岁,PASP为(52.6±15.1)mmHg。单因素分析中-重度PH与年龄、HCT、PaCO₂、PaO₂、D-二聚体有关;多因素Logistic回归分析确定3项危险因素:HCT[比值比(OR)=51.82,95% CI: 2.34～1149.02],RV(OR=4.53,95% CI: 2.83～7.27),及PaCO₂(OR=1.02,95% CI: 1.00～1.03)。结论 呼吸病相关PH多为轻-中度,高水平的HCT、RV直径及PaCO₂提示PH病情较重。

Objective To analyze the clinical risk factors of pulmonary hypertension (PH) associated with chronic obstructive pulmonary disease(COPD). Methods A total of 55 hospitalized patients from 2014 to 2015 were enrolled in the study and were classified into three groups according to pulmonary artery systolic pressure (PASP) with echocardiography as follows: the mild group (36≤PASP＜50 mmHg), the moderate group (51≤PASP＜70 mmHg) and the severe group (PASP≥70 mmHg). Clinical data were recorded and retrospectively analyzed. Results The average age of all patients was (75.3±11.6)years. Echocardiography showed a mean PASP was 52.6±15.1 mmHg. Age, hematocrit (HCT), partial pressure of carbon dioxide (PaCO₂), the oxygen partial pressure (PaO₂), D-dimer and right ventricular (RV) diameter (>20 mm) were associated with moderate-to-severe PH on an univariate regression analysis, while RV (diameter >20 mm)[odds ratio (OR)=4.53, 95% CI: 2.83～7.27], HCT(OR=51.82, 95% CI: 2.34~1149.02) and PaCO₂ (OR=1.02, 95% CI: 1.00-1.03), to these patients, were independent risk factors using the multiple logistic regression analysis. Conclusion PH related to respiratory diseases is mostly mild-to-moderate. Haemoptysis,high levels of RV diameter, HCT and PaCO₂ suggest a serious condition of patients with PH related to chronic respiratory disease.

目的 分析小婴儿化脓性脑膜炎的临床特点,探讨其预测因子。方法 回顾性分析我科2015—2017年53例小月龄化脓性脑膜炎患儿的临床资料。以同时期、同年龄层的细菌感染患儿81例为观察组。通过单因素和多因素分析进行两组比较。结果 单因素分析提示早产儿、激惹、嗜睡、前囟紧张、颈强直及循环不良方面有差异。脑脊液白细胞数量、蛋白浓度、糖浓度,糖与同期血糖比值以及乳酸脱氢酶浓度均有明显差异。多因素分析提示仅脑脊液蛋白及乳酸脱氢酶有统计学意义。受试者工作曲线显示脑脊液蛋白、乳酸脱氢酶及两项指标合并的诊断效能均较高。结论 小婴儿化脓性脑膜炎患儿缺乏典型表现,密切关注早产儿基础疾病,激惹、嗜睡、前囟紧、颈强直及循环不良的临床表现,脑脊液蛋白及乳酸脱氢酶等实验室指标,有利于早期识别,及时干预,减少不良事件的发生。

Objective We aimed to analyze the clinical characteristics of community acquired purulent meningitis(PM) in infants and explore the predictors of early diagnosis. Methods Retrospective study was done with patients in our NICU from Jan 2015 to Dec 2017 aged during 29 days to 90 days. We divided them into two groups, 53 of which diagnosed PM were included as a case group, while 81 of which admitted inpatients with fever at the same periods and in the same age ranges were included as a control group. Factors including adverse basic events, clinical manifestations, laboratory examinations and so on were compared between two groups. Results Univariate analysis showed that premature, manifestations such as irritability, lethargy, bulging fontanelle,a stiff neck and the poor circulation, and cerebrospinal fluid(CSF) data like the mount of white blood cell, concentration of CSF protein, concentration of CSF glucose, CSF/blood glucose ratio, concentration of CSF lactate dehydrogenase were different between two groups. In the multivariate analysis, concentration of CSF Protein(＞0.450 g/L, OR=5.819, P=0.002) and concentration of CSF lactate dehydrogenase(＞28.300 U/L,OR=7.892, P＜0.001) were proven to be independent risk factors for the diagnosis of PM. Receiver operating characteristic (ROC) analysis revealed that the CSF protein, the CSF lactate dehydrogenase and the combination of the two factors had an increased area under the curve (AUC), the mounts of each which were 0.839,0.867 and 0.890. Conclusion Patients with PM in early infantile period are often lack of atypical clinical characteristics. We need pay highly attention to the adverse basic events, irritability, lethargy, bulging fontanelle,a stiff neck, poor circulation and CSF results. The independent predictors for early diagnosis were concentration of CSF protein and lactate dehydrogenase. It indicates that if the predictors could be identified early, diagnosis could be made timely and interventions could be operated immediately. It will be beneficial for progression-free and overall survival.

目的 探讨儿童不明原因肝功能异常的临床特点、病因及预后,为临床及时对因治疗提供帮助。方法 回顾性分析本院2016年1月—2017年12月期间205例以不明原因肝功能异常住院患者的临床资料,并对其临床特点、病因及预后进行分析。结果 在205例不明原因肝功能异常患者中,其中166例(80.97%)得到明确诊断,涉及多种疾病。其中分别为非嗜肝病毒所致感染性肝损104例(50.73%),遗传代谢疾病38例(18.54%),药物性肝损11例(5.37%),全身性疾病如川崎病6例(2.93%)、血液肿瘤疾病4例(1.95%)、营养不良3例(1.46%)等,原因未明 39例(19.02%)。结论 引起肝功能异常病因多且复杂。婴幼儿肝功能异常以非嗜肝病毒所致感染性肝损为主,感染主要为巨细胞病毒及EB病毒;遗传代谢性疾病、药物性肝损、全身性疾病也是造成肝功能异常的重要原因。

Objective To investigate the clinical features, etiology and prognosis of children patients with unexplained liver dysfunction. Methods The clinical data of 205 inpatients with unexplained liver dysfunction from January 2016 to December 2017 were analyzed retrospectively. The clinical characteristics, etiology and prognosis were analyzed. Results Of 205 patients with unexplained abnormal liver function, 166 patients with liver dysfunction (80.97%) were clearly diagnosed and involved in a variety of diseases. Among them, 104 cases were infected liver damage caused by non-hepatophilic virus, 38 cases were related to genetic metabolic diseases, 11 cases were drug-induced liver damage, 6 cases were Kawasaki disease, 4 cases were hematologic tumor diseases, 3 cases were malnutrition. The cause of abnormal liver function was not clear in 39 cases. Conclusion There are many and complicated causes of abnormal liver function, and part of the causes are unknown. Infantile liver dysfunction was mainly caused by non-hepatophilic virus, the first was cytomegalovirus, the second was Epstein-Barr virus; genetic metabolic disease, drug-induced liver damage, systemic disease are also an important cause of liver dysfunction.

目的 探讨鼻咽癌(NPC)放疗致鼻窦炎发生的临床特征、影响因素。方法 回顾性分析2014年1月—2017年6月期间,我院收治的228例NPC患者临床资料,根据患者是否进行放疗,将患者分为非放疗组(106例)和放疗组(122例)。对比分析两组鼻咽癌致鼻窦炎的临床特点,以单因素和多因素Logistic分析鼻咽癌患者放疗后发生鼻窦炎的影响因素。结果 放疗组患者鼻窦炎发生率为81.97%,高于非放疗组患者鼻窦炎发生率54.72%,差异有统计学意义(P＜0.05)。放疗组鼻窦炎累及部位发生率从高到低,依次为后组筛窦、蝶窦、前组筛窦、窦口鼻道复合体、额窦以及上颌窦。放疗组患者鼻窦炎后组筛窦、蝶窦累及率高于非放疗组患者,差异具有统计学意义(P＜0.05)。单因素分析结果显示,放疗后鼻窦炎的发生,与患者年龄是否＞50岁,病程是否＞2年,是否存在鼻腔侵犯,肿瘤分期,是否使用滴鼻剂及是否进行鼻咽冲洗有关,差异有统计学意义(P＜0.05)。多因素Logistic回归分析结果显示,患者病程＞2年,存在鼻腔侵犯以及T3+T4期肿瘤是NPC放疗后鼻窦炎发生的独立危险因素;使用滴鼻剂和鼻咽冲洗是NPC放疗后鼻窦炎发生的保护因素。结论 NPC放疗后具有较高的鼻窦炎发生率,并且主要累及后组筛窦和蝶窦,对于病程＞2年、存在鼻腔侵犯以及T3+T4期肿瘤的患者,应积极采取措施预防鼻窦炎的发生,使用滴鼻剂和鼻咽冲洗是预防NPC放疗后鼻窦炎发生的有效措施。

Objective To investigate the clinical features and influencing factors of nasosinusitis caused by nasopharyngeal carcinoma (NPC) radiotherapy. Methods The clinical data of 228 NPC patients admitted to our hospital from January 2014 to June 2017 were retrospectively analyzed. According to whether the patients were treated with radiotherapy, the patients were divided into non-radiotherapy group (106 cases) and radiotherapy group (122 cases). The clinical characteristics of nasosinusitis were analyzed and compared. Univariate and multivariate logistic analysis was used to analyze the influencing factors of nasosinusitis after radiotherapy in patients with nasopharyngeal carcinoma. Results The incidence of sinusitis was 81.97% in the radiotherapy group, which was higher than that in the non-radiotherapy group (54.72%). The difference was statistical significance (P<0.05). The incidence of sinusitis involvement in the radiotherapy group was in the order of ethmoid sinus, sphenoid sinus, anterior ethmoid sinus, sinus ostium and nasal tract sinus complex, frontal sinus, and maxillary sinus. The incidences of ethmoid sinus and sphenoid sinus in the post-nasal sinusitis group were higher than that in the non-radiotherapy group (P<0.05). Univariate analysis showed that the occurrence of sinusitis after radiotherapy was related to whether the patient's age was > 50 years, whether the disease duration was >2 years, whether there was nasal invasion, tumor staging, whether nasal drops were used, and whether nasopharyngeal irrigation was performed. Multivariate logistic regression analysis showed that patients with a disease course of >2 years had nasal invasion and T3+T4 tumors were independent risk factors for sinusitis after NPC radiotherapy; use of nasal drops and nasopharyngeal washing were protective factors. Conclusion There is a higher incidence of sinusitis after radiotherapy of NPC, and mainly affects the ethmoid sinus and sphenoid sinus in the posterior group. Patients with a disease course of >2 years, with nasal invasion, and T3+T4 tumors should actively take measures to prevent the occurrence of sinusitis. The use of nose drops and nasopharyngeal washing is an effective measure to prevent the occurrence of sinusitis after NPC radiotherapy.

目的 探讨科学的出院后营养管理对肠道术后新生儿体格追赶的效果,分析影响体格追赶的相关因素。方法 通过营养门诊对出院术后婴儿及社区婴儿进行个体化营养喂养指导和营养咨询,比较两组每月体质量、身长及头围,并随访至生后9月龄。两组生后半年生长趋势行重复测量检验。结果 第1月龄时,手术组患儿体质量、身长、头围均落后于对照组婴儿(P<0.001, P=0.004, P=0.008),第2月龄时,手术组患儿体质量、头围仍落后于对照组(P=0.003,P=0.031),第4月龄时,手术组体质量低于对照组(P=0.012),第5～9月龄,两组体格指标均无明显差异。生后半年内两组的生长趋势差异无统计学意义。前半年身长的增长与出生身长、父母文化以及父亲的不良习惯存在负相关关系,头围的增长与住院天数呈明显负相关关系、与出生以及首诊时的体格状况呈正相关关系。结论 合理喂养对新生儿肠道术后体格追赶有利,帮助其接近正常生长曲线。再次手术可能是导致体质量增长下降的主要因素,但未明显影响身长、头围的正常增长。出生时和就诊时的体格状况、父母教育程度和不良习惯以及住院天数均是影响体格追赶的相关因素。

Objective To investigate the effect of scientific nutrition management after discharge on neonatal physical catch-up after intestinal operation, and to analyze the related factors affecting physical catch-up. Methods Individualized nutritional feeding instruction and nutrition consultation were performed on infants and community infants after discharge from hospital through nutrition clinic. The monthly body weight, body length and head circumference were compared between the two groups, and followed up to 9 months old. The growth trend of the two groups in half a year after birth was tested by repeated measurement. Results At the first month of age, the body weight, body length and head circumference of the patients in the operation group were lower than those in the control group (P<0.001, P=0.004, P=0.008). At the second month, the body weight and head circumference of the operation group were still behind those of the control group (P=0.003, P=0.031), and at the fourth month of age, the weight and head circumference of the patients in the operation group were still lower than those in the control group. The body weight of the operation group was lower than that of the control group (P=0.012), and there was no diffence in the physical indexes between the two groups at the age of 5~9 months. There was no statistical significance in growth trend between the two groups within half a year after birth. The growth of body length in the first half of the year had a negative correlation with the length of birth, parents' culture and father's bad habits. The growth of head circumference had a negative correlation with the length of stay in hospital, and had a positive correlation with the physical condition at birth and at first visit. Conclusion Reasonable feeding is beneficial to the physical catch-up of the newborn after intestinal operation and helps them approach the normal growth curve. Reoperation may be the main cause of weight loss, but it does not affect the normal growth of body length and head circumference. The physical condition at birth and medical visit, parents' education level, bad habit and hospitalization days were all related factors of physical catch-up.

目的 研究布拉酵母菌与锌制剂联合应用对小儿迁延性腹泻患儿治疗的效果。方法 选取我院2017年1月—2017年12月收治的136例小儿迁延性腹泻患儿,将其随机分为联合组和对照组,每组各68例患儿,在基础补液、治疗的基础上,联合组采用布拉酵母菌药物联合锌制剂治疗,对照组单纯利用锌制剂治疗,比较两组治疗效果。结果 联合组总有效率97.06%,不良反应发生率4.41%,对照组总有效率88.24%,不良反应发生率14.71%,差异有统计学意义（P<0.05）。联合组患儿血检指标、锌含量、住院时间等指标与对照组比较有差异,（P<0.05）。结论 小儿迁延性腹泻是指患儿的腹泻症状迁延不愈造成严重的肠道炎症,患儿利用基础治疗效果不明显,加用布拉酵母菌与锌制剂对患儿治疗效果的改善作用明显。

目的 分析针对乳腺不可触及肿物实施超声引导下微创旋切活检术治疗的临床效果。方法 选择我院收治的乳腺肿物患者200例进行观察（2012年1月—2017年12月）,针对200例乳腺肿物患者存在的305个乳腺不可触及肿物进行活检检查,采用随机分组的方式将其分成两组后针对常规组100例乳腺肿物患者实施传统手术治疗,针对治疗组100例乳腺肿物患者实施超声引导下微创旋切活检术治疗,对比两组的治疗效果。结果 两组乳腺肿物患者之间对比的术中出血量、术后愈合时间、术后并发症发生率、治疗显效率存在差异（P<0.05）,统计学有意义;且超声引导下微创旋切活检术对于乳腺癌的诊断检出率较高。结论 针对乳腺不可触及肿物实施超声引导下微创旋切活检术治疗的疗效显著,促进患者预后。

Objective To analysis of the clinical effect of ultrasound guided minimally invasive rotary biopsy for untouchable breast masses. Methods A total of 200 patients with breast masses were selected for observation （January 2012 to December 2017）, and 305 untouchable breast masses in 200 patients were examined by biopsy. It was divided into two groups randomly and then treated with traditional surgical treatment for 100 patients with breast masses in the routine group and 100 patients with breast masses in the treatment group with minimally invasive biopsy under the guidance of ultrasound. The therapeutic effects of the two groups were compared. Results There were differences between the two groups in the amount of intraoperative bleeding, postoperative healing time, the incidence of postoperative complications and the effective rate of treatment （P < 0.05）, and the differences were statistically significant （P < 0.05）. The diagnostic rate of breast cancer was higher with minimally invasive rotary biopsy guided by ultrasound. Conclusion The effect of ultrasound-guided minimally invasive rotary biopsy on untouchable breast masses is significant and promotes the prognosis of the patients.

目的 分析15例腹腔妊娠患者的临床病例特点,为临床工作提供参考依据,进一步减少漏诊及误诊的情况。方法 收集我院2002年1月—2018年6月期间住院治疗的腹腔妊娠患者的临床病例资料。回顾性分析并总结患者的临床诊治特点。通过t检验,进一步比较腹腔镜与腹式手术患者围手术期情况是否存在统计学差异。结果 1例B超检查提示大网膜妊娠可能;另1例入院前外院B超提示腹腔妊娠,孕8⁺周单活胎;其余13例患者术前B超提示宫内未见孕囊,子宫旁有包块,提示异位妊娠可能,术前未能明确腹腔妊娠。14例患者行手术治疗,另1例行介入穿刺保守治疗。术中探查发现腹腔妊娠病灶种植部位：位于大网膜5例,位于盆腔9例（膀胱区右下方盆壁1例,子宫直肠窝右侧直肠表面1例,右侧宫骶韧带2例,子宫下段前壁瘢痕处右缘1例,偏左侧肠管与子宫粘连之间1例、右侧盆壁1例、子宫直肠窝1例、子宫左侧圆韧带起始端1例）,位于腹腔1例（腰3椎体前方、腹主动脉与下腔静脉之间）。结论 腹腔妊娠的异位妊娠病灶种植部位非常广泛,超声检查需进一步扩大检查范围。必要时可选择MRI或CT检查准确定位,减少漏诊及误诊的情况。

Objective To analysis and summary clinical characteristics of 15 patients who were diagnosed with abdominal pregnancy,which supply reference for clinical work. Methods 15 cases who were diagnosed with abdominal pregnancy and admitted to Guangdong Women and Children hospital between January 2002 and June 2018 were identified. Retrospective analysis was used to summarize the clinical characteristics of diagnosis and treatment in 15 patients. Test statistics used Student's t test to find if there was statistical difference between laparoscopic and abdominal surgery patients in perioperative period. Results One case was likely diagnosed with greater omentum pregnancy by type B ultrasound. Another one patient was diagnosed with abdominal pregnancy which has 8+ weeks pregnant single live fetus by type B ultrasound in other hospital prior to hospitalization.The B ultrasound tests of the other 13 patients showed there were no sac in uterus and enclosed mass beside uterus which were diagnosed with ectopic pregnancy, but not positive diagnosis with abdominal pregnancy.Surgery was performed for 14 patients.We found more different sites where gestational sacs plant in abdominal pregnancy patients in operation, 5 cases sacs planted in greater omentum, 9 cases sacs planted in pelvic cavity including 1 case sac planted in pelvic wall bottom-right bladder,1 case sac planted in rectum outside right-hand of Douglas pouch,2 cases sacs planted in right utero-sacral ligament,1 case sac planted in right-side of scar in lower uterus segment,1 case sac planted in adhesive tissue between the lift intestinal canal and uterus,1 case sac planted in right pelvic cavity,1 case sac planted in Douglas pouch,1 case sac planted in initiating terminal of the lift round ligament of uterus. The inteventional puncture with medical treatment was supply for only 1 patient,CT test showed the sac planted in abdominal: ahead of third lumbar vertebra between abdominal aorta and inferior vena cava. Conclusion There are more sites where gestational sacs can plant in abdominal pregnancy patients. Ultrasound is first choice for patient who was considered ectopic pregnancy and better to expansion the inspection range. MRI or CT may find sacs plant site who was considered abdominal pregnancy which may reduce missed diagnosis and misdiagnosis. Surgery is first performed who was diagnosed with abdominal pregnancy. Medical treatment for patients who vital signs are stable.