Mutation analysis of Jewish hunter patients in Israel

We have performed molecular and mutation analyses on 14 unrelated Israeli Hunter families and have identified the IDS mutation in 8 of them. Three unrelated Ashkenazi patients had the same previously reported mutation (1246 C→T). Based on the haplotypes of the mutation-bearing chromosomes, we concluded that this is a recurrent mutation. In two patients, we identified a deletion spanning exons V–VII. Three novel mutations were observed in different patients: L410P, 717del4, and 244del3. In addition, the silent mutation (562 C→T) was observed in one patient. © 1994 Wiley-Liss, Inc.     

Severe Chlamydia trachomatis pneumonia in a patient with no immune deficiency

A 40-year-old patient with no immune deficiency was admitted because of severe bilateral pneumonia and pleural effusion. The diagnosis of Chlamydia trachomatis pneumonia was confirmed by isolation of the pathogen and the appearance of serum antibodies to Chlamydia species.     

微晶蜡非催化氧化反应的神经网络模型

对微晶蜡进行了非催化空气氧化，并利用人工神经网络将氧化微晶蜡的酸值、酯值及微晶蜡的氧化条件（反应温度、空气流量和反应时间）进行关联，建立了微晶蜡非催化氧化的酸值、酯值的神经网络模型，并用该模型预测了反应条件对微晶蜡氧化反应过程的影响。结果表明，该模型不但具有较高的计算精度，而且具有满意的预测能力。     

The significance of extracellular GABA in the substantia nigra of the rat during seizures and anticonvulsant treatments

The effects of the anti-epileptic drugs valproic acid and gamma-vinyl-GABA j(vigabatrin) on the extracellular content of GABA was determined by microdialysis. Probes were implanted in the substantia nigra reticulata (SNR) of rats. It was found that gamma-vinyl-GABA (1000 mg/kg) induced a 4–6-fold increase in the extracellular content of GABA. This increase lasted for at least 72 h. PTZ-induced convulsions were partly antagonized by the GVG treatment. The increase of extracellular GABA after gamma-vinyl-GABA was not affected by infusion of tetrodotoxin. In contrast valproic acid (200 mg/kg), although effective in preventing pentylenetetrazol (PTZ)-induced convulsions, did not affect extracellular GABA in the SNR. PTZ-induced convulsions did not modify extracellular GABA, neither in control rats nor in valproic acid or gamma-vinyl-GABA pretreated animals. The results do not support the idea that extracellular GABA in the SNR plays a significant role in anti-convulsive treatment. However, the present data can also be interpreted that extracellular GABA, as sampled by microdialysis, is not a reliable marker for GABA release.     

Aspiration cytology of clear-cell lesions of the parotid gland: Morphologic features and differential diagnosis

Clear-cell lesions of the parotid gland are uncommon but when studied by fine-needle aspiration may result in a clinically important but cytologically difficult differential diagnosis. Clear-cell lesions involving the parotid include acinic cell neoplasm, clear cell oncocytoma, mucoepidermoid carcinoma, primary clear-cell carcinoma, epithelial-myoepithelial carcinoma, and metastatic renal cell carcinoma. Accurate diagnosis is achieved by assessment of nuclear features, other cell populations present, and clinical data including radiographic studies.     

Retinopathy of prematurity

Over the last decade major advances have been made in the understanding of the pathogenesis and evolution of retinopathy of prematurity (ROP). The increased survival of very small premature infants in modern neonatal intensive care units has led to the resurgence of this potentially blinding disease. ROP appears to be a multifactorial disease, the prevention of which is probably impossible even now, with the most accurate methods of blood gas monitoring and oxygen restriction. In addition to oxygen, there are a number of significant risk factors, such as birth weight and gestational age, ventilator hours, hyper and hypocarbia, hypoxia and acidosis, xanthine therapy and probably bright light. Current data suggest that the level of antioxidants in the immature retina is relatively low and therefore oxygen radicals which accumulate in the preterm baby's retina may play an important role in the pathogenesis of ROP. The treatment of the disease in both its "active" and "cicatricial" stages emphasizes the need for a new classification which could serve as a common international language through which results may be compared. Vitamin E was suggested in some studies to be helpful in preventing the severe stages of the disease, but its efficacy has yet to be proved. Treatment modalities such as photocoagulation, cryotherapy and vitrectomy are being tried as a means of therapy in the more advanced stages of the disease. Preliminary results of a large multicenter study support the efficacy of cryotherapy.