Social prognosis in patients with ulcerative colitis.

One hundred and twenty-two randomly selected patients with ulcerative colitis (28 of whom had undergone colectomy) were interviewed to obtain data on the quality of their family, emotional, social, and professional lives. They were compared with an age- and sex-matched group of patients with acute conditions from the same area. The two groups were similar in marital status, the frequency of severe family or sexual problems, leisure activities, physical and earning capacity, the incidence of mental disorders before the interview, and intake of alcohol and psychopharmacological drugs. A higher proportion of the patients with colitis had had a higher education and belonged to higher socioeconomic groups than the controls, and this difference had been present at the time of diagnosis. These results show that patients with ulcerative colitis seem to adapt themselves well to their condition and suffer few social or professional disabilities.     

Correlation of age and birth order of parents with chromosomal anomalies in children

One hundred children with suspected congenital and/or malformation and their parents who reported to SAT hospital, Medical College, Trivandrum, India formed the test group. Fifty children with no obvious anomalies or abnormalities and their parents formed the control group. The criteria for selection of the control was 1) the maternal age at delivery was below 30 years and 2) the parents belong to 1st or 2nd birth order. The chromosomal analysis was carried out in all the subjects using peripheral blood lymphocyte microculture to investigate for any constitutional chromosomal markers and quantitate the mutagen (bleomycin) sensitivity of the chromosomes. All the subjects were evaluated clinically and a complete family history was recorded. Chromosome anomalies were noted in 41 out of the one hundred children and in 4 out of the 200 parents of the test group. No constitutional aberrations were seen either in the parents or in the children of the control group. Bleomycin sensitivity study revealed a high b/c value in 35 children (24 hypersensitive and 11 sensitive) of the test group whereas in the control group the b/c values were low denoting hyposensitivity and very good DNA repair mechanism. This study reveals that the incidence of chromosome aberrations is higher when the age and birth order of parents are higher. A direct correlation was noted with parental order and b/c value. This was also true with the parental age and birth defects.     

Studies on the association of NIDDM in Japanese patients with hyperthyroid Graves' disease.

We attempted to analyze the association of hyperthyroid Graves' disease with non-insulin-dependent diabetes mellitus (NIDDM). Forty-nine patients (23 males and 26 females; 7.6%) of a total of 647 patients with hyperthyroid Graves' disease had NIDDM, several years before or after Graves' disease was diagnosed. Only 1 patient had insulin-dependent diabetes mellitus. Compared with the general Japanese population (n = 9,133), the incidence of NIDDM (n = 348; 3.9%) in patients with Graves' disease was higher in all age groups. Only 4 patients (8.2%) of the 49 hyperthyroid patients with NIDDM had a history of being overweight (body mass index > 25). In contrast, 276 (79.9%) of the 348 diabetic patients were currently or previously overweight. Moreover, the incidence of a family history of diabetes (13 of the 49 hyperthyroid Graves' patients with NIDDM; 26.5%) was also lower in the patients with NIDDM in the general Japanese population (50% incidence). The male:female ration in patients with Graves' disease and NIDDM was 1:1.1; much different from that in the total Graves' disease population (1:4.1). Analysis of the HLA loci A, B, C, DR and DQ (35 determinations) in 35 hyperthyroid patients with NIDDM and in 386 subjects from the general population revealed a highly significant difference between them in the incidence of HLA-Cw4, -DR2, -DQw1, -DQw3 and -DQw4. This study suggests that there was an association of Graves' disease with NIDDM. A significant association of HLA-DR and -DQ loci was observed in hyperthyroid Graves' patients with NIDDM.     

常染色体显性多囊肾病合并颅内动脉瘤的临床特征及其随访研究

目的:探讨常染色体显性多囊肾病(Autosomal dominant polycystic kidney disease,ADPKD)合并颅内动脉瘤的临床特征及其预后情况。方法:选择355例2007年11月至2008年11月上海长征医院收治的被诊断为ADPKD的患者为研究对象,分析其临床资料及头部动脉瘤MRA筛查的结果,并对合并颅内动脉瘤的患者进行随访。结果:355例ADPKD患者颅内动脉瘤的发病率为12.4%,发病率随年龄的增加而升高,60-69岁组的发病率为23.3%,有脑卒中家族史的患者发病率明显高于无明确脑卒中家族史的患者(P0.05)。大部分动脉瘤较小(平均直径3.85±3.25mm),且都位于前循环,其中颈内动脉最常见(占48.1%)。对44位合并颅内动脉瘤的患者进行随访,共随访21位患者(27枚动脉瘤),平均随访43.5±4.3月,未发现新生动脉瘤;2枚动脉瘤有明显增大,扩大率为7.4%,其余25枚动脉瘤无明显增大,无动脉瘤破裂。结论:年龄≥30岁和具有脑卒中家族史的ADPKD患者易并发颅内动脉瘤,大多直径较小且位于前循环,随访期间大多无明显增大或破裂。     

高脂血症合并高血压患者临床特征及疾病严重程度的危险因素分析

摘要 目的：分析高脂血症合并高血压患者临床特征及疾病严重程度的危险因素。方法：回顾性分析2021年12月-2022年12月我院收治的高血压和高脂症患者共532例,依据其血压和血脂水平分为高血脂组（n=240）和高血脂合并高血压组（n=292）。比较两组临床资料,采用二分类Logistic回归分析影响高脂血症合并高血压患者病情严重程度的独立危险因素。结果：高血脂合并高血压组的吸烟史、家族史、患有糖尿病史、高血脂病史一年以上人数占比及血清甘油三酯（TG）、总胆固醇（TC）、低密度脂蛋白（LDL）、高密度脂蛋白（HDL）、血尿酸（UA）、C反应蛋白（CRP）水平均与高血脂组有差异（P<0.05）。高血脂合并高血压重度组有吸烟史、家族史、患有糖尿病、高血压病及血清UA、CRP水平均高于中度组（P<0.05）。二分类Logistic回归分析结果显示,有吸烟史、家族史、患有糖尿病、高血压病及血清UA、CRP水平升高是影响高脂血症合并高血压患者病情严重程度的独立危险因素（P<0.05）。结论：吸烟史、家族史、患有糖尿病、高血压病,UA含量以及CRP水平升高是影响高脂血症合并高血压患者病情严重程度的独立危险因素,可作为临床提示高脂血症合并高血压病情发展的指标。     

Correlation of Age and Birth Order of Parents with Chromosomal Anomalies in Children*

One hundred children with suspected congenital and/or malformation and their parents who reported to SAT hospital, Medical College, Trivandrum, India formed the test group. Fifty children with no obvious anomalies or abnormalities and their parents formed the control group. The criteria for selection of the control was (1) the maternal age at delivery was below 30 years and (2) the parents belong to first or second birth order. The chromosomal analysis was carried out in all the subjects using peripheral blood lymphocyte microculture to investigate any constitutional chromosomal markers and quantitate the mutagen (bleomycin) sensitivity of the chromosomes. All the subjects were evaluated clinically and a complete family history was recorded. Chromosome anomalies were noted in 41 out of 100 children and in 4 out of 200 parents of the test group. No constitutional aberrations were seen either in the parents or in the children of the control group. Bleomycin sensitivity study revealed a high b/c value in 35 children (24 hypersensitive and 11 sensitive) of the test group whereas in the control group the b/c values were low denoting hyposensitivity and very good DNA repair mechanism. This study reveals that the incidence of chromosome aberrations is higher when the age and birth order of parents are higher. A direct correlation was noted with parental order and b/c value. This was also true with the parental age and birth defects.     

太原市杏花岭区白癜风患者临床流行病学调查及患病影响因素的Logistic回归分析

摘要 目的：调查太原市杏花岭区白癜风患者临床流行病学情况,并分析患病影响因素。方法：于2020年6月至2021年6月采用多阶段分层随机抽样的方法,抽取太原市杏花岭区辖10个街道符合条件的常住居民进行调查,共抽取1440例,实际完成调查研究1428例,应答率为99.17%。采用我院自行设计的问卷调查表收集资料。根据是否患有白癜风将研究对象分为白癜风组（n=31）和无白癜风组（n=1397）。采用单因素和多因素Logistic回归分析太原市杏花岭区白癜风患者患病影响因素。结果：纳入的1428例居民中,共诊断出31例患有白癜风,患病率为2.17%。31例白癜风患者中,男性占比高于女性,占54.84%;年龄21~40岁区间患病率最高,占29.04%;未婚的白癜风患者偏多,占45.17%;文化程度为初高中的白癜风发生率偏高,占41.94%;职业为学生的白癜风发生率偏高,占32.27%。单因素分析显示：太原市杏花岭区白癜风的患病与白癜风家族史、精神因素、暴晒史、饮酒史、吸烟史、经常接触化学物质、饮食规律、蔬果摄入量、饮食合理、皮肤病史有关（P<0.05）。多因素Logistic回归分析显示：饮酒史、白癜风家族史、皮肤病史、经常接触化学物质、暴晒史、精神因素是白癜风发病的潜在独立危险因素,而饮食合理、蔬果摄入量大、饮食规律则是其保护因素（P<0.05）。结论：太原市杏花岭区白癜风发生率较高,饮酒史、白癜风家族史、皮肤病史、经常接触化学物质、暴晒史、精神因素是白癜风发病的潜在独立危险因素,而饮食合理、蔬果摄入量大、饮食规律则是其保护因素。     

血尿酸水平对ST段抬高型心肌梗死患者急诊经皮冠状动脉介入术后长期预后的影响

目的:探讨血尿酸(SUA)水平对行急诊经皮冠状动脉介入治疗(PCI)的ST段抬高型心肌梗死(STEMI)患者长期预后的影响。方法:连续纳入2012年1月至2012年12月在我院诊断为STEMI并成功行急诊PCI的患者275例,按照入院时SUA水平三分位法将患者分成A组91例(低尿酸)、B组90例(中尿酸)、C组94例(高尿酸)。收集所有患者临床基线资料,包括吸烟史、既往病史、血液学指标及冠脉造影结果等,观察三组患者急诊PCI术后住院期间及术后6年随访期间主要不良心血管事件(MACE)的发生情况,logistic回归分析SUA水平对患者近期及长期预后的危险因素。结果:C组男性和心律失常病史比例明显高于A、B组(P0.05)。同时,三组患者AIP、Scr、BUN、SUA、APTT组间比较差异有统计学意义(P0.05)。C组患者三支血管病变比例明显高于A、B组,差异有统计学意义(P0.05)。三组患者住院期间心力衰竭、支架内血栓形成、总MACE比例组间比较差异有统计学意义(P0.05)。三组患者术后6年心力衰竭、心绞痛、支架内再狭窄/闭塞和总MACE比例组间比较差异有统计学意义(P0.05)。Logistic回归显示年龄、吸烟史、TC、SUA、血栓抽吸术、IABP应用是住院期间MACE发生的危险因素(P0.05),AIP、SUA、APTT、IABP应用是PCI术后6年随访期间MACE发生的危险因素(P0.05)。结论:成功行急诊PCI的STEMI患者,SUA水平是其近期及长期预后的独立危险因素,SUA水平升高者长期MACE发生率增加。     

不同术前皮肤准备方案与手术切口感染的关系研究

目的:研究不同术前皮肤准备方案与手术切口感染(SSI)的关系,为降低临床SSI发生率提供参考。方法:选择自2015年1月～2019年12月在医院行手术治疗的患者1810例为本次研究对象。根据析因设计表,将因素A:是否剃毛(1不剃毛;2剃毛),B:清洁方式(1清水清洁;2肥皂水清洁),C:术前备皮时间(1术前1 d;2术前2 h)配对分为8个组:A1B1C1组226例,A1B2C1组229例,A1B1C2组216例,A1B2C2组232例,A2B1C1组221例,A2B2C1组241例,A2B1C2组221例,A2B2C2组224例,比较各组手术部位及切口类型分布、术后SSI发生率,并采用析因分析法分析术前皮肤准备后各组菌落计数的相关性及交互作用。结果:各组患者的手术部位及切口类型之间的差异不存在统计学意义(P0.05)。A1B1C1组及A2B1C1组的SSI发生率较高,分别为12.83%和14.48%。A1水平的SSI发生率是8.75%,与A2水平的8.27%相比,差异不存在统计学意义(P0.05)。B1、C1水平的SSI发生率分别是11.31%、10.03%,明显高于B2、C2水平的5.83%、6.94%,差异均存在统计学意义(P0.05)。各组术前皮肤准备后的菌落计数差异存在统计学意义(P0.05),析因分析结果显示,B、C单因素分析差异存在统计学意义(P0.05),且A与C,B与C间具有交互作用,而A、B、C间具有二级交互作用(P0.05)。结论:术前皮肤准备对降低SSI发生具有重要作用,实际操作时,建议在较短的时间内利用肥皂水或其他消毒水进行皮肤清洗并完成备皮。     

A型肉毒素与复方倍他米松注射液联用治疗瘢痕疙瘩患者的疗效及安全性研究

目的:分析A型肉毒素与复方倍他米松注射液联用治疗瘢痕疙瘩患者的疗效及安全性。方法:选取2015年1月-2016年8月期间我院收治的90例瘢痕疙瘩患者为研究对象,根据治疗方法将患者随机分为A组、B组和C组各30例。A组给予A型肉毒素治疗,B组给予复方倍他米松注射液治疗,C组给予A型肉毒素联合复方倍他米松注射液治疗。比较三组患者的相关指标改善评分、临床疗效、不良反应发生率和复发率。结果:C组患者体积、痛痒觉、硬度和自我评价的改善评分均高于B组和A组(P0.05),B组的各项指标改善评分和A组相比差异无统计学意义(P0.05)。三组总有效率比较差异有统计学意义,且C组高于B组(P0.05),A组和C组总有效率比较差异无统计学意义(P0.05)。A组不良反应总发生率低于B组和C组,差异有统计学意义(P0.05),B组与C组不良反应总发生率相比,差异无统计学意义(P0.05)。A组和C组治疗后半年、1年瘢痕疙瘩复发率均低于B组(P0.05),但A组和C组比较差异无统计学意义(P0.05)。结论:与单独使用A型肉毒素或复方倍他米松注射液相比,A型肉毒素与复方倍他米松注射液联合使用治疗瘢痕疙瘩能显著提高疗效,降低复发率,且不会增加不良反应发生率,安全性较高,值得进一步推广应用。     

Family History of Diabetes is Associated with Increased Risk of Recurrent Diabetic Ketoacidosis in Pediatric Patients

Objective: To determine the relationship between family history of diabetes mellitus (DM) and diabetic ketoacidosis (DKA) recurrence in youth with established type 1 diabetes mellitus (T1DM).Methods: We performed a retrospective chart review of patients with DKA admitted to a pediatric hospital between January, 2009, and December, 2014. We compared patients with recurrent (≥2 admissions) and nonrecurrent DKA (1 admission) and investigated patient level factors, including family history, that may be associated with DKA recurrence in pediatric patients with established T1DM.Results: Of the 131 subjects in the study, 51 (39%) subjects were in the recurrence group. Age ≥15 years old, public health insurance, and family history of T1DM or type 2 diabetes mellitus were associated with recurrent DKA admissions in both univariable and multivariable analyses. Family history was associated with DKA recurrence, with an incidence rate ratio of 1.5 (95% confidence interval = 1.0 to 2.3; P = .03). The association was not explained by type of familial diabetes, first degree relative status, or whether the family member lived in the household.Conclusion: Recognition that a positive family history of DM may be associated with a higher risk for DKA recurrence in patients with established T1DM may allow for targeted education and focus on a previously unidentified population at increased risk for DKA. Understanding the mechanism underlying the effect of family history of diabetes on the rates of DKA in patients with established T1DM may allow for improved identification and education of patients who may be at risk for DKA recurrence.Abbreviations: CI = confidence interval; DKA = diabetic ketoacidosis; EHR = electronic health record; IBD = inflammatory bowel disease; IRR = incidence rate ratio; T1DM = type 1 diabetes mellitus; T2DM = type 2 diabetes mellitus     

Aryl hydrocarbon hydroxylase activity in pulmonary alveolar macrophages and lymphocytes from lung cancer and noncancer patients: A correlation with family histories of cancer

Aryl hydrocarbon hydroxylase (AHH) activity was measured in pulmonary alveolar macrophages (PAMs) and peripheral blood lymphocytes from cigarette smokers with and without primary lung cancer. Frequency distribution analysis of AHH induction ratios for the two groups revealed an increased number of individuals in the lung cancer patient group with high lymphocyte induction values (P less than 0.05). A similar increase was not shown for high-PAM AHH values in lung cancer patients (P greater than 0.2). When individual PAM and lymphocyte AHH values were compared between noncancer and lung cancer patients, a positive correlation was observed for noncancer patients (r=0.195, P less than 0.001), but no correlation of these values was noted for lung cancer patients. The lung cancer patients were divided into three subgroups of patients showing (I) high PAM and low lymphocyte AHH levels, (II) low PAM and low lymphocyte AHH levels, and (III) low PAM and high lymphocyte AHH levels. When the incidence of family history of cancer was compared for these subgroups, no family cancer history was recorded for persons in subgroup II; however, individuals in subgroups I and III presented family cancer history incidence of 9.5% and 39.3%, respectively. Patients in group III averaged 6 years younger than those in group I. These data suggest that familial factors may be identified among lung cancer patients and that these factors appear to associate as either a cause of an effect with the capacity of pulmonary alveolar macrophages and lymphocytes to be induced for AHH. The data support the hypothesis that high AHH values may be characteristic of lung cancer patients but show that enzyme values determined from a single tissue, either PAMs or lymphocytes, may not be appropriate for showing whether high AHH inducibility is correlated with lung cancer.     

应激性高血糖与急性自发性脑出血患者术后并发症和早期预后的相关性研究

目的:探讨应激性高血糖与自发性脑出血患者术后并发症及早期预后的关系。方法:回顾性分析我院收治的自发性脑出血患者358例,根据入院时血糖水平、糖化血红蛋白(HbAlc)及既往有无糖尿病史分为血糖正常组(96例)、应激性高血糖组(107例)及糖尿病组(155例),记录和比较各组入院时的血糖、格拉斯哥昏迷评分(GCS)、平均出血量及入院后30 d时各组的术后并发症发生情况、格拉斯哥预后评分(GOS)的差异。结果:糖尿病组入院时血糖水平、平均出血量、重型患者所占比率、脑出血破入脑室、颅内再出血、颅内感染、肺部感染、尿路感染及上消化道出血发生率、GOS分级植物状态或死亡发生率均明显高于应激性高血糖组(P0.05),GOS分级良好率低于应激性高血糖组(P0.05);而应激性高血糖组入院时血糖水平、平均出血量、重型患者所占比率、脑出血破入脑室、颅内再出血发生率、GOS分级植物状态或死亡发生率均明显高于血糖正常组(P0.05)。结论:自发性脑出血患者入院时应激性高血糖与患者的病情显著相关,可加重急性脑出血的不良预后。     

参松养心胶囊联合胺碘酮对心力衰竭后室性心律失常患者的应用效果及对心率变异性影响

摘要 目的：探讨对心力衰竭后室性心律失常患者应用参松养心胶囊联合胺碘酮进行治疗的效果。方法：选择150例心力衰竭后室性心律失常,根据随机数字表法,将150例患者分为A组、B组、C组,每组50例。所有患者均行常规抗心力衰竭治疗,A组患者给予参松养心胶囊治疗,B组患者给予胺碘酮片治疗;C组给予胺碘酮片联合参松养心胶囊治疗。对比三组的疗效,对比三组治疗前后的心功能指标、24 h动态心电图指标、心率变异性指数,对比三组治疗过程中的不良反应发生情况。结果：C组治疗有效率明显较A组、B组高（P<0.05）,A组、B组间对比无统计学意义（P>0.05）。与治疗前相比,A、B、C三组的LVDs、LVDd降低,LVEF、CO、SV明显升高,且C组较A、B组比较有相同趋势（P<0.05）;A组与B组间对比无统计学意义（P>0.05）。与治疗前相比,A、B、C三组的室性心动过速数量、室性早搏数量、QTd明显降低,QTc升高,且C组较A、B组比较有相同趋势（P<0.05）;A组与B组间对比无统计学意义（P>0.05）。三组不良反应发生率比较无差异（P>0.05）。结论：与单独应用参松养心胶囊、胺碘酮相比,参松养心胶囊联合胺碘酮会提高疗效,且应用安全,可能与其可改善患者的心率变异性有关。     

七氟醚联合右美托咪定对老年食管癌根治术患者应激反应、细胞免疫功能和认知功能的影响

摘要 目的：探讨右美托咪定、七氟醚复合麻醉在老年食管癌根治术患者中的应用价值,并观察患者细胞免疫功能、应激反应、认知功能的变化情况。方法：纳入我院2021年1月~2022年6月期间收治的老年食管癌根治术患者96例,采用随机数字表法分组,分别为A组（32例,七氟醚）、B组（32例,七氟醚复合丙泊酚）、C组（32例,七氟醚复合右美托咪定）。观察三组血流动力学指标、应激反应指标、细胞免疫功能和认知功能的变化,并记录三组不良反应发生情况。结果：B组、C组气管插管即刻（T1）~术毕（T3）时间点心率（HR）、平均动脉压（MAP）低于A组,且C组低于B组（P<0.05）。B组、C组术后3 d肾上腺素（E）、去甲肾上腺素（NE）和多巴胺（DA）低于A组,且C组低于B组（P<0.05）。B组、C组术后3 d CD4+、CD3+、CD4+/CD8+高于A组,且C组高于B组（P<0.05）。B组、C组术后3 d CD8+低于A组,且C组低于B组（P<0.05）。B组、C组术后3 d蒙特利尔认知评估（MoCA）评分、简明精神状态量表（MMSE）评分高于A组,且C组高于B组（P<0.05）。C组的术后认知功能障碍（POCD）发生率低于A组和B组（P<0.05）。A组和B组的POCD发生率组间对比无统计学差异（P>0.05）。三组不良反应发生率组间对比无统计学差异（P>0.05）。结论：老年食管癌根治术患者应用七氟醚联合右美托咪定复合麻醉,可维持血流动力学稳定,改善机体应激反应、免疫抑制和认知功能损害,且效果较好。     

静脉溶栓时机对急性ST段抬高型心肌梗死患者溶栓效果及主要不良心脏事件发生率的影响

目的:探讨静脉溶栓时机对急性ST段抬高型心肌梗死患者溶栓效果及主要不良心脏事件发生率的影响。方法:将2016年1月至2017年12月我院接诊的314例急性ST段抬高型心肌梗死患者纳入本研究,按照溶栓治疗时间不同分为A组(发病至溶栓时间6 h)172例、B组(发病至溶栓时间为6～12 h)102例和C组(发病至溶栓时间12 h)40例,比较三组患者溶栓效果、溶栓后ST段回落情况以及住院期间主要不良心脏事件发生情况。结果:A组患者梗死冠脉溶通率、溶栓后ST段回落幅度高于B组和C组,且B组高于C组,差异均有统计学意义(P0.05)。A组患者治疗后ST段回落最大幅度所需时间、住院期间主要不良心脏事件总发生率低于B组和C组,且B组低于C组,差异均有统计学意义(P0.05)。结论:急性ST段抬高型心肌梗死患者发病后6 h内静脉溶栓治疗梗死冠脉溶通率更高、ST段回落效果更好,可降低住院期间主要不良心脏事件发生风险。     

孤独症儿童生存质量、睡眠质量现状调查及睡眠障碍的影响因素分析

摘要 目的：分析孤独症儿童生存质量、睡眠质量现状,探讨其睡眠障碍的影响因素。方法：选择2017年1月至2019年12月期间我院收治的孤独症儿童100例作为研究组,另选同期于我院进行体检的健康儿童100例作为对照组,分别应用生存质量简易量表、社会支持评定量表、儿童睡眠质量调查问卷调查两组生存质量、社会支持情况、睡眠质量。应用单因素及多因素Logistic回归分析孤独症儿童睡眠障碍的影响因素。结果：研究组儿童生存质量简易量表的主观标准评分、客观标准评分及社会支持评定量表的主观支持评分、客观支持评分、对社会支持的利用度评分、总分均显著低于对照组（P＜0.05）。研究组入睡困难、睡眠不安、间断睡眠、夜惊、夜间尿床、打鼾、梦呓、梦游、张口呼吸、夜间磨牙、睡眠出汗发生率均显著高于对照组（P＜0.05）,两组梦魇发生率比较无统计学差异（P>0.05）。研究组患儿中存在睡眠障碍的46例,无睡眠障碍的54例。单因素分析显示,睡眠障碍组父母关系差、家族精神病史、新生儿窒息史、出生体重<2500 g比例显著高于无睡眠障碍组（P＜0.05）。多因素Logistic回归分析显示,父母关系差、有家族精神疾病史、有新生儿期窒息史、出生体重<2500 g是孤独症儿童睡眠障碍的危险因素（P＜0.05）。结论：与健康儿童相比,孤独症儿童生存质量、社会支持情况较差,睡眠障碍发生率也较高,父母关系差、有家族精神疾病史、有新生儿期窒息史、出生体重<2500 g是孤独症儿童睡眠障碍的危险因素。     

Facial clefts in Saudi Arabia: an epidemiologic analysis in 179 patients

One hundred and seventy-nine consecutive cases of facial clefts that were treated at the King Khalid University Hospital, in Riyadh, Saudi Arabia, were analyzed for an epidemiologic study. Isolated cleft lip was present in 38 percent, cleft of lip and palate in 37.4 percent, and cleft of the posterior palate in only 22.4 percent. There was a male preponderance in all types. In cases of cleft lip with or without cleft palate, the more commonly affected side was the left, followed by bilateral cases. Associated malformations were present in 13.4 percent. A positive family history was found in 26.8 percent of cases. A significant number of patients (7.8 percent) were first seen at more than 10 years of age. The incidence of facial clefts at this hospital was 0.3 per 1000 live births, computed over a period of 6 years. This incidence is significantly lower than that reported from European and Far Eastern countries.     

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma

We evaluated the contribution of germline CDKN2A mutations and MC1R variants to the development of melanoma in a hospital-based study of single (SPM, n = 398) and multiple primary melanoma (MPM, n = 95). The overall frequency of CDKN2A mutations was 15.2%, and four-fold higher in MPM than in SPM cases (OR = 4.27; 95% CI 2.43-7.53). The likelihood of identifying a CDKN2A mutation increased with family history of melanoma and younger age at diagnosis in MPM cases. Compared to SPM patients, the risk of harboring a CDKN2A mutation rose as the number of primary melanomas increased and was not influenced by family history. The G101W and E27X founder mutations were the most common. Several other mutations (W15X, Q50X, R58X, A68L, A127P and H142R) were detected for the first time in Italian patients. One novel mutation, T77A, was identified. Several non-coding variants with unknown functional significance were also found (5'UTR -25C > T, -21C > T, -67G > C, IVS1 +37G > C); the novel 5'UTR -21C > T variant was not detected in controls. The CDKN2A A148T polymorphism was more frequent in MPM patients than in the control population (15.7% versus 6.6%). Compared to the SPM patients, MPM cases had a 2-fold increased probability of being MC1R variant carriers and a higher probability of carrying two or more variants. No specific association was observed between the type of variant and the number of melanomas, suggesting that the number rather than the type of MC1R variant increases the risk of MPM. We observed no interaction between CDKN2A status and the presence of MC1R variants. The high frequency of CDKN2A mutations in our MPM cases, independent of their family history, is of relevance to genetic counseling and testing in our population.     

妊娠期高血压疾病发病危险因素及对妊娠结局的影响

目的:探讨妊娠期高血压疾病(HDCP)发病的危险因素及其对妊娠结局的影响,以期为HDCP的诊断和早期预防提供一定的临床依据。方法:选择2011年11月到2014年11月在我院接受治疗的120例HDCP患者,设为实验组,同期选择120例正常孕产妇作为对照组。自制调查问卷调查受试者的临床资料以及妊娠结局,分析HDCP的危险因素,对比观察两组妊娠结局的差异。结果:(1)单因素分析显示,HDCP发病的危险因素可能有:年龄、体质指数(BMI)、月收入、高血压家族史、孕期并发症、负面情绪、文化程度(均P0.05)。(2)进一步行多因素非条件Logistic回归分析显示,HDCP发病的危险因素有:BMI、高血压家族史、负面情绪及文化程度。(3)实验组患者胎儿窘迫、低体重儿、新生儿窒息、围产儿死亡及胎儿畸形的发生率均明显高于对照组,具有显著性差异(P0.05)。结论:导致HDCP发病的危险因素较多,主要有BMI、高血压家族史、负面情绪及文化程度等,这些因素极易导致不良妊娠结局。