Turcot综合征合并肠道Burkitt淋巴瘤的临床病理观察

目的探讨Turcot综合征合并肠道Burkitt淋巴瘤的临床病理特征。方法对1例Turcot综合征合并肠道Burkitt淋巴瘤进行光镜观察及免疫组化标记,并结合文献进行分析。结果患者先后行3次手术。第1次手术病理诊断为结肠多发性绒毛管状腺瘤;第2次手术病理诊断为脑间变性星形细胞瘤;第3次手术病理诊断为结肠多发性绒毛管状腺瘤及结肠Burkitt淋巴瘤。结论依靠临床病理特点,Turcot综合征的诊断相对容易,但其合并淋巴瘤十分罕见。二者之间是否存在一定的关系尚需进一步研究。     

Turcot综合征病人的护理

Turcot综合征，又名胶质瘤息肉病综合征（glioma-polyposis syndrome）。其特征为家族性多发性结肠腺瘤伴有中枢神经系统恶性肿瘤，临床症状通常在20多岁时出现，有脑部肿瘤引起的神经系统症状，如乳头痛、晨吐、复视以及结肠息肉引起的腹泻、便血等，两者均可为首发症状。     

胰心综合征的临床特点及其意义

胰心综合征的临床特点及其意义曾靖回顾性总结１８例胰心综合征的临床特点，并探讨其临床意义。报告如下。１临床资料１．１病例：男１３例，女５例；年龄２２～７３岁。全部病例均确诊为急性胰腺炎（ＡＰ），其中水肿型１２例，出血坏死型６例。既往均无心脏病或异常心电...     

赖特综合征14例临床分析

1 引 言赖特综合征又称为尿道-眼-关节炎综合征。为探讨赖特综合征的临床特点及诊治要点，现将我院1993年至1998年间收治的14例赖特综合征总结报告如下。2 临床资料2．1 一般资料14例均为住院病人。男性11例，女性3例。年龄16岁至67岁，中位年龄30岁，其中16岁至20岁4例；21岁至30岁、31岁至40岁、41岁至50岁各3例；50岁以上1例。发生在细菌性痢疾之后者5例，发病前有不洁性交史者2例，上呼吸道感染1例，无明显诱因者6例。2．2 临床表现发热者12例，38．1℃至39℃ 6例，39．1℃至40℃ 4例，超过40℃ 2例；具有关节红、肿、热、痛表现者共14…     

二维与彩色多普勒超声对布-加综合征病因学的诊断价值

目的 探讨二维超声与彩色多普勒超声对布-加综合征病因学诊断价值，以指导临床进行治疗。方法 应用二维超声与彩色多普勒超声检查19例布-加综合征患者，男12例，女7例，年龄12-69岁，平均41岁，综合分析其二维图象与彩色血流显像特点，对布-加综合征的病因作出诊断，并通过临床及其他影像学检查互相验证。结果 14例均出现肝脏左右叶不同程序增大，呈瘀血肝样表现，其中1例有肝叶巨大占位病变，5例肝脏体积减小，肝实质回声不均匀，呈肝硬化声像图表现，肝静脉或下腔静肪局限性陕窄，远端管腔扩张，血流速度减慢，甚至出现逆流，8例可见云雾状影，彩色血流显示狭窄处血流速度增快，远端血流颜色暗淡或消失。经临床及其他影像学检查，19例中先天发育异常6例，血栓型2例，癌栓型4例，肿块外压型3例，原因不明型4例，二维及彩色多普勒超声诊断除1例先天性发育异常漏诊1例癌栓型误诊为栓型外，其余均获确诊，总的病因诊断准确率94.7%，敏感性93.3%，特异性100%。结论 二维超声及彩色多普勒超声对面-加综合征病因学的诊断有较高的价值，对临床治疗方式的选择起着重要作用。     

Turcot综合征病人的护理

Turcot综合征,又名胶质瘤息肉病综合征(glioma-polyposis synclrome).其特征为家族性多发性结肠腺瘤伴有中枢神经系统恶性肿瘤,临床症状通常在20多岁时出现,有脑部肿瘤引起的神经系统症状.如乳头痛、晨吐、复视以及结肠息肉引起的腹泻、便血等,两者均可为首发症状.徐富星[1]报道,病人不仅有脑和结肠病变,还可出现其他伴随病变,如胃部肿瘤、十二指肠肿瘤、小肠肿瘤、内分泌系统肿瘤,在遗传性非腺瘤病结肠癌、直肠癌病人中较常发生.Cafeaulait斑临床上非常罕见.男女均可罹患.1995年-21006年3月国内共报道2例.2006年我院收治1例,现将其治疗及护理过程报告如下.     

表现为孤立性急性脑干综合征的视神经脊髓炎谱系疾病1例并文献复习

目的：探讨表现为孤立性急性脑干综合征的视神经脊髓炎谱系疾病的临床表现、影像学特点、诊治方案及预后。方法：报道1例表现为孤立性急性脑干综合征的视神经脊髓炎谱系疾病患者的诊治经过，并进行相关文献复习。结果：54岁女性，表现为吞咽困难，构音障碍，右侧面部疼痛，共济失调。头部MRI提示：延髓右侧异常信号。血清及脑脊液抗水通道蛋白4抗体阳性。经糖皮质激素冲击、免疫抑制剂治疗后症状好转。搜索既往报道，获得表现为脑干综合征的视神经脊髓炎谱系疾病患者4例，均为女性，平均首发年龄35.25岁（22～60岁），血清AQP4抗体阴性1例，阳性3例。所有患者经积极治疗后均预后良好。结论：表现为孤立性急性脑干综合征的视神经脊髓炎谱系疾病较少见，易误诊。     

三亚地区新生儿唐氏综合征的细胞遗传学及临床分析

目的：探讨海南三亚地区新生儿唐氏综合征（DS）的发病情况及临床特点。方法采用外周血淋巴细胞培养、制片及G显带方法，对疑似DS进行染色体检查，并对患儿进行临床分析。结果在被确诊为 DS 的46例患儿中，单纯型44例，占95．7％；嵌合型2例，占4．3％；未检出易位型DS；患儿母亲生育年龄最小为18岁，最大46岁，平均育龄为29．8岁；患儿中伴有重要器官、系统并发症者共7例（占15．2％）。结论三亚地区DS患儿母亲呈现低龄化的趋势，对本地区妇女进行孕期唐氏筛查及产前诊断十分必要。     

带蒂脐静脉瓣修复Mirizzi综合征胆道狭窄与缺损

作者自1998年起应用带蒂脐静脉瓣修复手术治疗15例Mirizzi综合征（Ⅰ型、Ⅱ型及Ⅲ型）所致的肝外胆管壁缺损或狭窄，取得了良好的疗效。1资料与方法本组15例患者中男性6例，女性9例。年龄26岁--65岁，平均42．6岁。经术前MRCP、ER—CP或术中探查、术中胆道造影证实为Mirizzi综合征造成肝外胆管缺损或狭窄，缺损或狭窄段的口径或长度在1．0～2．0cm之间。     

自身抗体对原发性胆汁性肝硬化的诊断意义

[目的]分析原发性胆汁性肝硬化(PBC)出现的自身抗体及其临床意义，探讨自身免疫性肝病重叠综合征的特点。[方法]用间接免疫荧光法检测52例PBC患者的ANA、AMA、SMA和LKM、LMA及LSP等抗体，用欧蒙印迹法检测ANA谱、AMA亚型抗体及SLA／IP、LKM—1和LC—1等肝脏疾病相关的自身抗体。[结果]全部PBC患者AMA和AMA—M2抗体均为阳性，52例中18例检测了AMA—M4、M9抗体，分别有9例和8例阳性。52例中ANA阳性41例(78．4％)，主要表现为细胞核膜型(19例)、核点型(11例)和着丝点型(8例)的荧光模式。其他少见的荧光模式有：抗SS—A/SS—B型、核均质型、核仁型及核颗粒型。多数PBC患者ANA为两种荧光模式的混合。荧光模式为着丝点型者CENP—B均为阳性。52例中有6例患者表现为自身免疫性肝病重叠综合征，其中2例SLA／IP阳性，提示AIHⅢ型与PBC的重叠；1例LKM—1阳性，提示AIHⅡ型与PBC的重叠；3例．ANA阳性，肝活检证实2例存在自身免疫性肝炎(AIH)和PBC的病理改变，1例仅有界面性炎的改变，提示AIHⅠ型与PBC的重叠综合征。重叠综合征男：女=4：2，年龄偏低，疾病进展较快。[结论]AMA和AMA—M2对PBC具有诊断意义；多数PBC患者ANA阳性并且有其特征性荧光模式，这种特征对AMA—M2阴性的PBC有诊断意义。PBC患者出现AIH的自身抗体时应考虑重叠综合征的诊断。此类重叠综合征患者在发病年龄、性别及抗体方面有不同于PBC的特点。     

Turcot syndrome

Turcot syndrome is the association of colorectal polyposis with primary neuroepithelial tumors of the central nervous system such as glioblastoma and medulloblastoma. Including putative patients, more than 150 familial or sporadic cases of the syndrome have been reported in literature. Since early reports, there is considerable controversy regarding the modality of genetic transmission and the distinction from other syndromes like familial adenomatous polyposis(FAP). Recent molecular evidence suggests that Turcot syndrome could be divided into the following two entities based on the distinct genetic backgrounds. (1) True Turcot syndrome(autosomal recessive): Intestinal polyps are less in number(< 100), large in size and apt to transform to the malignant tumor. Brain tumor is mainly diagnosed as glioblastoma or astrocytoma and mismatch repair genes might be involved. (2) FAP-associated type(autosomal dominant): Predisposing to medulloblastoma.     

Macrophage serum markers in pneumococcal bacteremia: Prediction of survival by soluble CD163

OBJECTIVE: Soluble CD163 (sCD163) is a new macrophage-specific serum marker. This study investigated sCD163 and other markers of macrophage activation (neopterin, ferritin, transcobalamin, and soluble urokinase plasminogen activator receptor [suPAR]) as prognostic factors in patients with pneumococcal bacteremia. DESIGN: Observational cohort study. SETTING: Five university hospitals in Denmark. PATIENTS: A total of 133 patients with Streptococcus pneumoniae bacteremia (positive blood culture) and 133 age- and gender-matched controls. INTERVENTIONS: Samples were collected for biochemical analyses at the time of first positive blood culture. MEASUREMENTS AND MAIN RESULTS: sCD163 was highly correlated with other macrophage markers and was significantly elevated (median [25-75 percentiles], 4.6 mg/L [2.8-8.9]) compared with healthy controls (2.7 mg/L [2.1-3.3], p < .0001). Increased levels were observed in patients who needed intensive care (hemodialysis, p = .0011; hypotension, p = .0014; mechanical ventilation, p = .0019). Significantly lower levels of sCD163, ferritin, transcobalamin, and suPAR (but not C-reactive protein) were measured in patients > or =75 yrs. In patients <75 yrs, all macrophage markers were increased in patients who died from their infection compared with survivors, whereas no change was observed in any of the markers in the very old age. At cutoff levels of 9.5 mg/L (sCD163) and 1650 nmol/L (C-reactive protein), the relative risk for fatal outcome in patients <75 yrs was 10.1 (95% confidence interval 3.4-31.0) and 7.0 (95% confidence interval 2.4-21.6) for sCD163 and C-reactive protein, respectively. In a multivariate logistic regression model for patients <75 yrs, ferritin, transcobalamin, neopterin, and suPAR contained no significant information on the probability of survival when sCD163 and CRP were known (p = .25). CONCLUSIONS: Macrophage marker response in pneumococcal bacteremia was compromised in old age. In patients <75 yrs old, sCD163 was superior to other markers, including C-reactive protein, in predicting fatal disease outcome.     

The risk factors associated with MERS-CoV patient fatality: A global survey

Risk factors associated with Middle East respiratory syndrome coronavirus (MERS-CoV) infection outcome were established by analyses of WHO data from September 23, 2012 to 18 June 2018. Of the 2220 reported cases, 1408 cases, including 451 MERS-CoV deaths, were analyzed. The case fatality rate was 32% (95% CI: 29.4–34.5). Compared to MERS patients ≤30 years old, those with >30 years had the adjusted odds ratio estimate for death of 2.38 [95% CI: 1.75–3.22]. This index was 1.43 [95% CI: 1.06–1.92] for Saudi patients in comparison to non-Saudi; 1.76 [95% CI: 1.39–2.22] for patient with comorbidity in comparison to those without comorbidity; 0.58 [95% CI: 0.44–0.75] for those who had close contact to a camel in the past 14 days and 0.42 [95% CI: 0.31–0.57] for patients with >14 days with onset of signs and hospital admission compared to patients with ≤14 days.     

家族性von Hippel—Lindau综合征的影像学诊断

【目的】探讨yonHippel—Lindau（VHL）综合征的影像学特点,增加对本病的认识。【方法】回顾性分析家族中3例VHL综合征患者的临床和影像学资料,并复习相关文献。【结果】一个家庭3例患者,分剐是母亲及其两子。年龄22-48岁。母亲患小脑孤立血管母细胞瘤。两子中之一除小脑血管母细胞瘤外,还有肝脏,胰腺及双肾多发性囊肿;另一子则表现为腰椎椎管内血管母细胞瘤。【结论】影像学在VHL的诊断,随访以及长期监测中起着重要作用,要重点强调对高危亲属的筛查。VHL病灶的早期发现和治疗,可以延长寿命并改善生活质量。     

Clinical aspects and classification of primary osteoarthrosis deformans

The authors reported the results of investigation of 70 patients with osteoarthrosis deformans followed up for 3-10 yrs. They defined 3 variants of a course of the disease: with rapid progression, slow progression, without noticeable progression. These variants differed in disease spreading, the frequency of arthrotic synovitis and the presence of hereditary predisposition. Signs of erosive arthrosis of the distal and proximal digital hand joints were noted in 12 patients with nodular polyosteoarthrosis. A characteristic signs in this group of patients was hereditary predisposition combined with local vegetative-vascular disorders and a strain on the digital hand joints, and degenerative affection of the cervical spine with the radicular syndrome.     

Effects of switching from olanzapine to risperidone on the prevalence of the metabolic syndrome in overweight or obese patients with schizophrenia or schizoaffective disorder: analysis of a multicenter, rater-blinded, open-label study

BACKGROUND: A major contributor to mortality inpatients with schizophrenia or schizoaffective disorder is cardiovascular disease, an important risk factor for which is the cluster of clinical abnormalities that define the metabolic syndrome (eg, abdominal/visceral obesity, hypertriglyceridemia, impaired glucose tolerance). OBJECTIVE: The aim of this article was to examine the effects of switching from the antipsychotic olanzapine to risperidone on the prevalence of the metabolic syndrome in high-risk overweight or obese patients with schizophrenia or schizoaffective disorder. METHODS: This post hoc analysis was based on data from a previous 2-phase, 20-week, multicenter (19 US sites), rater-blinded, open-label study. High-risk overweight or obese (body mass index [BMI], >26 kg/m(2)) patients aged 18 to 65 years with schizophrenia or schizoaffective disorder whose treatment was switched from olanzapine to risperidone were enrolled. Patients who entered the phase 1 switch from olanzapine to risperidone (6 weeks) and the phase 2 extension (14 weeks) were included in the assessment. The primary end point was the difference from baseline in the prevalence of the metabolic syndrome at week 20, determined using measurements of weight, BMI, waist circumference, and systolic and diastolic blood pressure (SBP/DBP). RESULTS: Baseline assessments for the metabolic syndrome were available from 121 of 123 patients recruited for phase 1 of the study (61 men, 60 women; mean [SD] age, 41.1 [10.2] years; mean [SD] BMI, 33.9 [6.9] kg/m(2)); 71 patients entered phase 2 (29 men, 42 women; mean [SD] age, 40.2 [10.3] years; mean [SD] BMI, 35.1 [7.3] kg/m(2)), of whom 39 (54.9%) ere diagnosed with schizophrenia, and 32 (45.1%) with schizoaffective disorder. The metabolic syndrome was identified in 63 (52.1%) patients at study entry. In the 71 patients with data available from baseline and week 20 (using the last observation carried forward method), the prevalence of the metabolic syndrome was reduced from 38 (53.5%) patients at baseline to 26 (36.6%) at study end (McNemar chi(2) = 8.0, P < 0.005). Significant improvements at study end were seen in mean weight (P = 0.031), BMI (P = 0.002), waist circumference (P = 0.003), SBP (P = 0.006), and DBP (P = 0.010). There was no significant difference in the reduction in the prevalence of the metabolic syndrome between patients who did or did not receive the behavioral therapy for weight loss. CONCLUSIONS: In this post hoc analysis of switching from the antipsychotic olanzapine to risperidone on the prevalence of the metabolic syndrome in high-risk overweight or obese patients with schizophrenia or schizoaffective disorder, the metabolic syndrome was highly prevalent at baseline. Switching from olanza- pine to risperidone was associated with a significant reduction in this prevalence.     

A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome

Familial adenomatous polyposis (FAP), Gardner syndrome (polyposis,osteomas and epitheliomas), flat adenoma syndrome (attenuatedAPC) and Turcot syndrome (colorectal polyposis with brain tumours)are distinctive clinical syndromes. Each is caused by mutationsin the adenomatous polyposis coli (APC) gene on chromosome 5q21,although Turcot syndrome may have other causes. A variety ofAPC mutations are recognized, which can be associated with thecharacter and severity of the clinical syndromes.     

Mirizzi综合征中医源性胆道损伤的处理

【目的】探讨Mirizzi综合征的诊断及减少术中医源性胆管损伤的处理措施。【方法】回顾分析43例Mirizzi综合征患者诊断、分型、手术方法等临床资料。【结果143例Mirizzi综合征术前确诊25例,术中损伤胆管9例,占20．93％。【结i~]Mirizzi综合征是胆道外科手术中致胆管损伤的主要因素;ERCP、MRCP是诊断该病的主要检查方法;对术前确诊及高度怀疑此病的患者,开腹行胆囊切除、胆管修补或胆肠Roux-en-Y吻合术安全、可行。     

老年病人ERCP术后胰腺炎的高危因素探讨及对策

目的探讨老年病人ERCP术后引发急性胰腺炎的高危因素及对策。方法对该院行ERCP检查或治疗355例老年患者进行回顾性分析。结果30例于ERCP术后发生急性胰腺炎,与ERCP引发急性胰腺炎相关的主要因素有:年龄、性别、体重指数、内镜下括约肌切开(EST)、多次乳头插管、多次胰腺显影和有胰腺炎病史。结论老年患者ERCP术后继发胰腺炎与患者自身因素及医师操作技术有关,术后鼻胆管引流能有效预防ERCP术后胰腺炎。