经胸超声心动图无创性评价先天性主动脉瓣病变

目的 评价经胸超声心动图在诊断先天性主动脉瓣病变中的应用价值.方法 临床确诊的先天性主动脉瓣病变患者43例,其中男性25例,女性18例;年龄4～46岁,平均年龄234岁.纯合子家族性高胆固醇血症(HoFH)患者7例,主动脉瓣二叶畸形(BAV)患者35例,罕见的主动脉瓣下移畸形1例.回顾分析经胸超声心动图检查结果,并与彩...     

The identification of a new HLA-DPB1 allele (*1302) in one family and the detection of a recombination event between the DR and the DQ regions in another Caucasian T1DGC family

The analysis of families collected by the T1DGC and typed at high resolution for the HLA class I and class II loci provided an opportunity for identifying new alleles and rare recombination events. In one American Caucasian family, a novel allele (HLA-DPB1*1302), detected as an unusual pattern of probe binding, was identified in the mother and in one child. Amplicons from both individuals were sequenced and a new variant of DPB1*1301 with an A->T mutation [TAC to TTC in codon 64, (amino acid 35); Y to F] was confirmed. In another American Caucasian family, one child inherited an unusual haplotype, DRB1*1501-DQA1*0102-DQB1*0609-DPA1*0103-DPB1*0601 resulting from a recombination between the DRB1 loci on the maternal chromosomes DRB1*1501-DQA1*0102-DQB1*0602-DPA1*0103-DPB1*0401 and DRB1*1302-DQA1*0102-DQB1*0609-DPA1*0103-DPB1*0601.     

问卷调查在采集女性盆腔脏器脱垂患者病史中的应用

目的:比较问卷调查与回顾性病例分析采集盆腔脏器脱垂(POP)患者信息的异同,从而确定症状问卷调查表的重要性.方法:按照现况调查的方法对2009年11月—2010年4月门诊收治的105例POP患者进行现场问卷调查,按照回顾性分析的方法采集2007年1月—2009年10月因POP住院手术治疗的209例患者的病史.采用SPS...     

原发性高血压合并脑梗塞患者血管紧张素Ⅱ-1型受体基因多态性的研究

目的 探讨血管紧张素Ⅱ－1型受体（angiotensin Ⅱ type 1 receptor,AT1R)基因A1166／C多态性与原发性高血压及合并脑梗塞的关系。方法 应用聚合酶链反应－限制性片段长度多态性方法检测70名健康人、72例原发性高血压无合并症患者及70例原发性高血压合并脑梗塞患者的AT1R基因型；生化技术测定血脂水平。结果 原发性高血压无合并症组及合并脑梗塞组的C等位基因频率分别为11．1％和10．7％，均显著高于正常对照组的3．6％（P＜0．05）；而两者之间的C等位基因频率差异无显著性（P＞0．05）；牟发性高血压患者血浆脂蛋白a水平与AT1R基因正相关。结论 提示AT1R基因可能是原发性高血压的重要遗传因素，但与高血压病患者是否易患脑梗塞无关。     

带有双侧部分输尿管的猪膀胱模型在宫腔镜培训中的应用

目的　为获得最大程度模拟人类子宫的宫腔镜精细电切培训用模型。 方法　获取带有双侧部分输尿管的猪膀胱,指导学员进行宫腔镜手术技巧的培训（实验组模型）,同期使用传统的培训模型四腔猪心（对照组模型）,考核为双向性,指导教师以考核内容进行打分,学员则填写调查问卷来评价模型。 结果　3站宫腔镜手术模拟培训中,两组模型训练学员的成绩及学员对模型的评价均有统计学差异（P<0.05）,认为膀胱模型膨起度良好,视野清晰,便于辨识解剖结构,能够更逼真模拟宫腔实际操作的困难状况。 结论　猪膀胱因其最大程度模拟人类子宫及其术中实际困难情境,是宫腔镜技术培训的理想模型。     

经胸与经食管超声心动图在先天性心脏病介入治疗中的应用

导管室介入封堵及外科小切口介入封堵都已经被广泛地应用于临床,封堵成功的关键在于经胸与经食管超声心动图在术前对病例精确的筛选、术中监测及术后即刻评价。文章结合目前国内外文献及临床病例,对经胸与经食管超声心动图在房间隔缺损、室间隔缺损和动脉导管未闭3种常见先天性心脏病介入治疗中的应用进行综述,为临床提供更加准确的超声影像学诊断依据。     

Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation

Apolipoprotein (apo) E mutants are associated with type III hyperlipoproteinemia characterized by high cholesterol and triglycerides levels. Autosomal dominant hypercholesterolemia (ADH), due to the mutations in the LDLR, APOB, or PCSK9 genes, is characterized by an isolated elevation of cholesterol due to the high levels of low‐density lipoproteins (LDLs). We now report an exceptionally large family including 14 members with ADH. Through genome‐wide mapping, analysis of regional/functional candidate genes, and whole exome sequencing, we identified a mutation in the APOE gene, c.500_502delTCC/p.Leu167del, previously reported associated with sea‐blue histiocytosis and familial combined hyperlipidemia. We confirmed the involvement of the APOE p.Leu167del in ADH, with (1) a predicted destabilization of an alpha‐helix in the binding domain, (2) a decreased apo E level in LDLs, and (3) a decreased catabolism of LDLs. Our results show that mutations in the APOE gene can be associated with bona fide ADH.     

Renal replacement therapies in pediatric intensive care patients: Experiences of one center in Turkey

BACKGROUND: Despite constant improvements in caring for critically ill neonates and infants with congenital cardiac disease, sepsis, bone marrow and solid organ transplantation, acute renal failure (ARF) is an important problem in these children. ARF, severe fluid overload and inborn errors of metabolism are some of the indications for acute dialysis in infants and children. METHODS: The authors had retrospectively evaluated the medical records of Pediatric Intensive Care Unit, Ankara University School of Medicine, Ankara, Turkey patients who had required acute renal replacement therapy between the dates of January 2002 to February 2005. RESULTS: Medical records of 332 patients were reviewed. Acute renal replacement therapy was performed in 21 patients (6.3%; mean age, 9.6 +/- 7.4 years). Dialysis modalities were peritoneal dialysis in 15 patients (71.4%; mean age, 3.9 +/- 5.6 years) and hemodialysis in six patients (28.6%; mean age, 12.1 +/- 3.2 years). A total of 90% of patients had severe systemic disease leading to ARF. A total of 95% of patients had multiple organ dysfunction syndrome. The most common cause of ARF was refractory shock. At the beginning of renal replacement therapy, 10 patients were anuric, nine patients had volume overload, seven patients had decompensated metabolic acidosis and nine patients had hypotension. The average dialysis period was 4.7 +/- 6.4 days. Mortality rate was 66.7%. Eight patients recovered from ARF and chronic renal failure had developed in one patient. CONCLUSION: In the Pediatric Intensive Care Unit, ARF is frequently seen together with multiple organ dysfunction syndrome and the mortality rate is high. Both peritoneal dialysis and hemodialysis are important renal replacement treatment modalities in patients with ARF. The age and hemodynamic status of the patients are important when choosing treatment modality; generally peritoneal dialysis is preferred in infants and toddler, while hemodialysis is preferred in older children.     

Depression and suicidal behavior in adolescent inpatients with obsessive compulsive disorder

BACKGROUND: To investigate the prevalence and correlations of suicidal behavior in obsessive compulsive disorder (OCD) among adolescent psychiatric inpatients. METHODS: A total of 348 adolescents, representing consecutive admissions to an adolescent inpatient unit, were assessed. Of these, 40 patients had OCD, 118 had schizophrenia, 59 had an affective disorder, 81 had a conduct disorder and 50 had an eating disorder. In addition, 87 normal community controls were assessed. All subjects were assessed for suicidal behavior by the Childhood Suicide Potential Scale (CSPS), for depression by the Beck Depression Inventory, for impulsiveness by the Impulse Control Scale, for anxiety by the State-Trait Anxiety Scale and for aggression by the Yudowsky Overt Aggression Scale. RESULTS: All the psychiatrically ill subjects, including those with OCD, had high levels of depression, anxiety and impulsiveness, which were far higher than those of the controls. The rate of attempted suicide was, however, much lower in the OCD subjects. In addition, there was a significant inverse correlation between suicidal behavior levels on the CSPS and depression in the OCD subjects, while all other subjects showed the expected significant positive correlation between level of suicidal behavior and depression. LIMITATIONS: This study looked at a referred population and generalization to outpatient and community samples cannot be made. Distinguishing between the primary and the comorbid diagnosis is difficult and some findings are based on small sample size and therefore may be vulnerable to type I error. CONCLUSIONS: Although suicidal ideation and depressive symptoms are common in OCD adolescent inpatients, they seem to be protected against suicide attempts. The inverse relationship between suicidal behavior and depression may mean that suicidal behavior is, in some ways, qualitatively different from that seen in other psychiatrically ill adolescents.     

高血压丘脑出血破入脑室的临床治疗体会

目的：探讨高血压丘脑出血破入脑室的治疗方法。方法：回顾分析本院高血压丘脑出血破入脑室30例患者的临床资料,15例行双侧脑室外引流术,6例行血肿穿刺引流＋脑室外引流,5例行开颅血肿清除,4例意识清醒。结果：生活自理18例,中残6例,重残3例,死亡3例。结论：高血压丘脑出血破入脑室者应急诊行脑室外引流。