Bernard–Soulier syndrome in pregnancy

Bernard–Soulier syndrome (BSS) is a rare autosomal recessively inherited bleeding disorder. Pregnancy in patients with BSS is characterized by ante‐, intra‐, or postpartum haemorrhage, which may be delayed and severe. There is no consensus in the management of BSS in pregnancy and so far only 16 pregnancies in nine patients have been described. We report a further three pregnancies in two women with the syndrome. We also outline our management of pregnant patients with BSS.     

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.     

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.     

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。     

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.     

IS THERE A SPECIFIC LINKAGE BETWEEN OBSTRUCTIVE SLEEP APNEA SYNDROME AND GASTROESOPHAGEAL REFLUX DISEASE?

Obstructive sleep apnea syndrome (OSAS) is a common condition characterized by repetitive sleep‐induced collapse of the upper airways. It is associated with increased risk for hypertension, ischemic heart disease, cerebral stroke, and traffic accidents. In contrast, gastroesophageal reflux disease (GERD) is a very common disorder defined as various symptoms or esophageal mucosal damage generated by the abnormal reflux of gastric contents into the esophagus. Patients with OSAS have been reported to have a high prevalence of gastroesophageal reflux (GER) symptoms. The increase of transdiaphragmatic pressure in parallel with the large negative intrathoracic pressure produced during apnea events may directly lead to GER. In addition, some studies have demonstrated improvement in GERD with the application of continuous positive airway pressure, most consistently effective treatment for OSAS. However, GER dose not occur with every apnea. Moreover, the common conditions observed in patients with OSAS, including obesity or alcohol ingestion, are also predisposing factors for GER. A more recent investigation in over 1000 subjects failed to show a causal link between both diseases. Thus, the potential relationship between OSAS and GERD remains controversial. Inconsistencies in definitions of both diseases or sampling biases may contribute to the confusing results.     

Intravenous cidofovir treatment for recalcitrant warts in the setting of a patient with myelodysplastic syndrome

Cidofovir is an acyclic nucleoside phosphonate with broad-spectrum activity against DNA viruses, including human papilloma virus (HPV). However, data on the efficacy of cidofovir in an immunosuppressive setting remain contradictory. We report for the first time on the promotion of the healing of recalcitrant warts in a patient with myelodysplastic syndrome with intravenous cidofovir treatment.     

2 121例老年急性冠脉综合征患者血清脂类浓度的分析

目的分析60岁以上老年人血清脂类水平的参考值,并探讨急性冠脉综合征与血脂指标的相关性.方法将3 766例健康成人分为≤60岁和＞60岁的两个年龄段,采用生物化学的方法测量他们的血脂水平,找出60岁以上老年人的脂类参考值.同时分析2 121例老年急性冠脉综合征病人的脂类指标.结果 60岁以上老年人血脂参考值为:TC 4.65±1.96×1.05mmol/L;TG 1.02±1.96×0.45mmol/L;HDL-C 1.47±1.96×0.40mmol/L;LDL-C 2.98±1.96×0.56mmol/L;ApoA1 1.32±1.96×0.25g/L;ApoB 0.99±1.96×0.35g/L,并且急性心肌梗死和不稳定性心绞痛病人血清脂类各项指标之间没有显著性差异.结论血清LDL-C/HDL-C＞5和TG ≥1.9mmol/L这两项联合指标比其他单独指标与老年人急性冠脉综合征关系更密切.     

绞股蓝总皂甙对自由基损伤血管内皮的保护作用

本文观察了绞股蓝总皂苷(Gypenosides,GYP)对电解性自由基(OFR)损伤离体兔胸主动脉和脑基底动脉内皮的保护作用:电解性OFR使乙酰胆碱(Ach)诱导的兔主动脉环舒张百分率明显降低,舒张比值(RR)变小,使离体兔脑基底动脉灌流压升高。结果显示绞股蓝能保护血管内皮免受OFR损伤,且呈剂量依赖性,并明显抑制OFR所致灌流压升高。作用似二甲亚砜(DMSO),说明GYP对外源性OFR损伤具保护作用。