Hydrocephalus associated with glycogen storage disease type II (Pompe's disease).

The authors describe a case of hydrocephalus in an 8-month, 2-week-old infant who had been previously diagnosed with glycogen storage disease type II. Cranial imaging revealed no evidence of obstruction within the ventricular system. This case adds to the central nervous system complications associated with this disorder. Several possible mechanisms for the hydrocephalus observed in this infant are discussed.     

羽毛作业工人变应疾病诊断结果评价

为探讨职业性接触羽毛尘引起变应性疾病的诊断方法 ,对 12 5名接尘工人和 97名非接尘人员作了流行病学调查 ,以 3种抗原皮内试验 ,结合血清 Ig E测定 ,进行变应性疾病的诊断。采用卡方检验 ,相关分析结果显示 ,接尘组变应疾病的发病率显著高于对照组 (P<0 .0 1) ,其中 ,变应性支气管炎与变应性眼结膜炎的发生与接尘时间及粉尘浓度呈正相关 (P<0 .0 1和 P<0 .0 5 )。认为职业性接触羽毛尘所损害的靶器官 ,主要为呼吸系统的变态反应。皮肤试验可做为职业性变应疾病的诊断指标。     

人类免疫缺陷病毒阳性肺结核患者临床分析

目的 提高人类免疫缺陷病毒（ＨＩＶ）阳市肺结核（ＰＴＢ）的认识。方法 对赤道几内亚巴塔医院１９９６年１月～１９９９年１１月确诊的１６８例ＨＩＶ阳性ＰＴＢ进行分析。结果 ＨＩＶ在ＰＴＢ患的感染率由１９９６年的１１．４％升至１９９９年的２２．７％。患多急骤起病（９４．６％）,以近期消瘦（８２．１％）、全身关节酸痛（７８．６％）、皮肤瘙痒（４２．９％）、慢性腹泻（２３．２％）、浅表淋巴结肿大（２０．     

Mechanisms of brain injury during infant cardiac surgery

Neurological injury is a major and often debilitating complication of congenital heart disease and open-heart surgery. Paradoxically, the full impact of this complication has been underscored by the marked decrease in mortality and the rescue of infants with desperate and previously lethal heart conditions. Although recent focus has been on mechanisms of brain injury originating during open-heart surgery, this article also emphasizes the importance of mechanisms initiated or perpetuated during the preoperative and postoperative periods. In addition to the usually implicated mechanism of hypoxia-ischemia, recent genetic advances suggest an important role for genetic deletion syndromes. Inflammatory cascades have been implicated in the end-organ injury seen after cardiopulmonary bypass and might play a role in neurological dysfunction. These mechanisms are reviewed, with an emphasis on recent developments in our understanding of brain injury in this population.     

The pursuit of effective neuroprotection during infant cardiac surgery

Advances in infant cardiac surgery have resulted in a dramatic decline in mortality rates; however, neurological morbidity remains an important concern. The effectiveness of a number of interventional strategies to prevent or minimize brain injury during open heart surgery are currently being investigated. This article provides an overview of two approaches: (1) interventions to enhance intraoperative cerebral oxygenation so as to prevent hypoxic-ischemic insults, and (2) the application of cerebral rescue therapies to attenuate the cascade of brain injury. Infant cardiac surgery provides a controlled environment in which to apply these neuroprotective approaches, so as to optimize the quality of life of these vulnerable children.     

The TNF‐863A allele strongly associates with anticentromere antibody positivity in scleroderma

Objective

Scleroderma is characterized by the presence of 3 predominant, yet almost mutually exclusive, antibodies: anticentromere antibody (ACA), antitopoisomerase antibody, and anti–RNA polymerase antibody. The purpose of this study was to investigate tumor necrosis factor (TNF) polymorphisms in scleroderma, with the specific aim of determining whether TNF polymorphisms would prove to be stronger markers for ACA than class II major histocompatibility complex (MHC).

Methods

We studied 214 UK white scleroderma patients and 354 healthy controls. All subjects were investigated for 5 TNF promoter region polymorphisms by sequence‐specific polymerase chain reaction.

Results

We showed that an NF‐κB binding site polymorphism (known to be functionally relevant) in the TNF promoter region was present in 51.8% of patients with ACA and 16.3% of patients without ACA (χ² = 25.1, P = 0.000004 [corrected P = 0.00002]). Using haplotype mapping, we showed that this was a primary TNF association that could explain the previous weak links between ACA production and class II MHC alleles. In marked contrast to our ACA results, HLA class II (especially DRB1*11) appeared to be primary in that it could explain the weaker TNF association with antitopoisomerase production. Further, we observed a separate TNF haplotype to be associated with scleroderma per se, although the level of significance was much lower (χ² = 8.7, P = 0.003 [corrected P = 0.02]).

Conclusion

We believe these findings may have importance both for the directional pathogenesis of scleroderma progression and for the treatment of scleroderma with anti‐TNF agents.

     

100例突聋患者的脑干听觉诱发电位观察

目的:观察BAEP在突聋患者中的变化规律,探讨其应用价值。方法:对突聋组患者结合正常对照,进行BAEP分析。结果:突聋患者,BAEP各波潜伏期、I—V峰间期、Ⅲ-Ⅴ/Ⅰ-Ⅲ比值明显长于正常人(PM相似文献   

Application of pbp1A PCR in Identification of Penicillin-Resistant Streptococcus pneumoniae

A seminested PCR assay, based on the amplification of the pneumococcal pbp1A gene, was developed for the detection of penicillin resistance in clinical isolates of Streptococcus pneumoniae. The assay was able to differentiate between intermediate (MICs = 0.25 to 0.5 μg/ml) and higher-level (MICs = ≥1 μg/ml) resistance. Two species-specific primers, 1A-1 and 1A-2, which amplified a 1,043-bp region of the pbp1A penicillin-binding region, were used for pneumococcal detection. Two resistance primers, 1A-R1 and 1A-R2, were designed to bind to altered areas of the pbp1A gene which, together with the downstream primer 1A-2, amplify DNA from isolates with penicillin MICs of ≥0.25 and ≥1 μg/ml, respectively. A total of 183 clinical isolates were tested with the pbp1A assay. For 98.3% (180 of 183) of these isolates, the PCR results obtained were in agreement with the MIC data. The positive and negative predictive values of the assay were 100 and 91%, respectively, for detecting strains for which the MICs were ≥0.25 μg/ml and were both 100% for strains for which the MICs were ≥1 μg/ml.     

Gefitinib in combination with tamoxifen in patients with ovarian cancer refractory or resistant to platinum-taxane based therapy--a phase II trial of the AGO Ovarian Cancer Study Group (AGO-OVAR 2.6)

BACKGROUND: Tamoxifen and gefitinib (IRESSA) combination therapy was studied in patients with ovarian cancer refractory or resistant to platinum- and taxane-based therapy. PATIENTS AND METHODS: In this phase II study, 56 patients with epithelial ovarian carcinoma or cancer of the fallopian tube or peritoneum received oral tamoxifen 40 mg/day and gefitinib 500 mg/day until progression or unacceptable toxicity. RESULTS: Seventeen patients (mean age: 59.6 years) had previously received first-line platinum/taxane treatment only, while 39 had received 2-8 (median 2) prior chemotherapy regimens. Gefitinib dose reduction to 250 mg/day was performed in 10 patients (14.9%), predominantly due to diarrhea (6 patients [10.7%]). Trial medication was discontinued in 6 patients (10.7%) due to adverse events (AEs). The most frequent drug-related AEs were diarrhea and acne-like skin rash. There were no tumor responses, but 16 patients had stable disease. Median time-to-progression was 58 days (95% CI, 55-71 days) and median survival was 253 days (95% CI, 137-355 days). CONCLUSION: Gefitinib plus tamoxifen did not appear to be efficacious in the treatment of patients with refractory/resistant ovarian cancer. The addition of tamoxifen did not worsen the known side effects of gefitinib, or induce additional side effects.