A case of acute heart failure associated with Guillain-Barré syndrome

Abstract Guillain-Barré syndrome (GBS) is a disease of the peripheral nervous system, which is caused by aberrant immune responses directed against some components of peripheral nerves. GBS is rarely accompanied by cardiovascular involvement. We describe a case of acute neuropathy complicated by sudden heart failure and left ventricular dysfunction which had a presumably neurogenic origin. Pathogenesis of acute heart failure is probably due to transitorial stunned myocardium and neurogenic cardiac injury. We show a rare case of transitorial and acute cardiac dysfunction by echocardiography and laboratory markers of heart failure.     

Case of a palatal tic resembling palatal tremor in a patient with Tourette syndrome.

We describe a case of a palatal tic resembling palatal tremor (PT) in a young female patient with a previously unrecognized mild Tourette syndrome. At the time of her visit, the patient complained about ear clicks that were audible to others. We discuss the differential diagnoses of hyperkinetic palatal movements emphasizing the ongoing discussion about essential PT representing a more heterogeneous disorder than previously thought.     

EQUAL FREQUENCY OF TEL/AML1 ACUTE LYMPHOBLASTIC LEUKEMIA IN CHILDREN WITH AND WITHOUT DOWN SYNDROME

Constitutional trisomy 21 is the most prominent predisposing factor to childhood leukemia, whereas the t(12;21)(p13;q22) with its molecular genetic counterpart, the TEL/AML1 fusion gene, is the most common acquired chromosomal rearrangement in childhood B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). Thus, it was somewhat surprising that according to the currently available literature the incidence of TEL/AML1+ BCP ALL is extremely low in patients with Down syndrome (DS). To further investigate this issue in a population-based fashion, the authors retrospectively assessed the number of DS patients with a TEL/AML1+ ALL in two consecutive Austrian ALL multicenter trials. Accordingly, they were able to analyze 8 of 10 individuals with DS and a BCP ALL, including 2 who suffered from a TEL/AML1+ leukemia. Based on this observation we concluded that individuals with a constitutional trisomy 21 may have the similar likelihood to develop a TEL/AML1+ leukemia as BCP ALL patients without this specific predisposing factor.     

皮质发育障碍模型的建立及其致痫敏感性的研究

目的:建立皮质发育障碍模型,探讨皮质发育障碍模型的敏感性。方法:在SD大鼠孕17d腹腔注入1,3-二氯乙烯-亚硝基脲(BCNU)制作皮质发育障碍模型;Nissl染色观察P60d仔鼠病理变化;选取P60d雄性仔鼠,腹腔注射氯化锂-毛果芸香碱,分别比较两组大鼠癫发生的潜伏期、持续状态时间和死亡率。结果:同龄仔鼠脑组织湿重实验组比对照组显著减轻(P<0.01);Nissl染色显示皮质变薄、皮质层次紊乱、海马区域异位细胞异常聚集;有皮质发育障碍的仔鼠注射氯化锂-毛果芸香碱后,癫发生的潜伏期显著缩短(P<0.01),癫持续状态时间延长(P<0.01),死亡率显著升高(P<0.05)。结论:BCNU致皮质发育障碍模型具有癫易感性。     

Neu–Laxova syndrome: a case report and review of the literature

Neu-Laxova syndrome (NLS) is a rare autosomal recessive syndrome, characterized by severe intrauterine growth retardation (IUGR), microcephaly, abnormal brain development, oedema and ichthyosis. It was first reported in 1971 by Neu et al. (Pediatrics 47: 610-612) and since then no more than 60 cases have been reported. A newborn girl delivered from a 29-year-old healthy mother was admitted to hospital with a thick membrane covering her body and dismorphic appearance. The diagnosis of NLS was made according to characteristic features. The syndrome is known to have a poor prognosis and the baby lived for 9 weeks. This case is one of the longest living cases of NLS and the fourth case reported from Turkey.     

谷氨酰胺在危重病患者中的应用

目的探讨危重病患者中早期经静脉应用谷氨酰胺（glutamine，Gl）的临床价值。方法42例患者随机分成两组（对照组和Gln组），Gln组进行Gln治疗（100mL／d，共7d）。治疗前后检测患者体质量、白蛋白、谷胱甘肽（GSH）、握力的变化和肠功能不全的发生率。结果体质量两组治疗前后比较差异无显著性（P〉0．05）。白蛋白、握力和GSH Gl治疗后非常显著高于治疗前（P〈0．01）；白蛋白对照组治疗后较治疗前显著增高（P〈0．05），但握力和GSH治疗前后均无显著变化（P〉0.05）；肠功能不全的发生率Gln组为4．8％，显著低于对照组（28．6％，P〈0．05）。结论在危重病患者疾病早期通过静脉途径外源性地补充Gln，有效改善了患者的营养状况；使患者血浆中的GSH水平增高，加强了机体的抗氧化能力；减少了患者肠功能不全的发生率。     

软硬腭前移鼻咽下口扩大术初步报告

目的:运用软硬腭前移的手术方法扩大鼻咽下口,改善因鼻咽部狭小致阻塞性睡眠呼吸暂停综合征患者的呼吸暂停症状。方法:手术切除硬腭后份使其缩短、悬雍垂软腭成形并将软腭拉向前,扩大鼻咽下口。结果:患者术后自觉症状及客观评价疗效满意。结论:软硬腭前移鼻咽下口扩大显著改善鼻咽下口狭小导致的阻塞性睡眠呼吸暂停患者的症状。     

LONG‐TERM FOLLOW UP OF PATIENTS WITH SMALL GASTROINTESTINAL STROMAL TUMORS IN THE STOMACH USING ENDOSCOPIC ULTRASONOGRAPHY‐GUIDED FINE‐NEEDLE ASPIRATION BIOPSY

Background: Gastrointestinal stromal tumors (GIST) are one of the most common mesenchymal tumors of the gastrointestinal tract. GIST are defined by positive immunohistochemical staining for KIT or CD34 and thus are generally diagnosed after surgery. Because small GIST are rarely diagnosed before surgery, the clinical course of these small tumors is not clear. The aim of the present study was to follow changes in size and configuration of small GIST that were pathologically confirmed using endoscopic ultrasonography‐guided fine‐needle aspiration biopsy (EUS‐FNAB). Methods: Between July 1997 and December 2003, 16 tumors in 16 patients (10 men and 6 women) with an immunohistochemical diagnosis of GIST were regularly followed in our hospital. The median patient age when EUS‐FNAB was performed was 62 years (range 26–82 years) and the median follow‐up period was 4.9 years (range 0.5–9.6 years). Results: Fourteen tumors showed no remarkable changes in size and shape during follow up compared with the initial diagnosis. Two tumors enlarged: one tumor approximately doubled its diameter in 8 years and the other tumor increased from 1.8 cm at diagnosis to up to 10 cm after only 2 years. Doubling time of the latter tumor was calculated as 3.1 months. Conclusions: We conclude that EUS‐FNAB might be a good modality for final diagnosis of GIST without surgery, and that GIST without rapid growth on follow up can be endoscopically followed.     

Syncope in children with Tourette's syndrome treated with guanfacine.

We report on 4 children who experienced a syncopal episode while being treated with guanfacine without any other evident cause. Syncope appears to be an uncommon side effect of guanfacine and is probably due to drug-induced hypotension or bradycardia.