Clinical and genetic characterization of Chanarin-Dorfman syndrome

We describe the clinical features, muscle pathology features, and molecular studies of seven patients with Chanarin-Dorfman syndrome (CDS) or neutral lipid storage disease and ichthyosis (NLSDI), a multisystem triglyceride storage disease with massive accumulation of lipid droplets in muscle fibers.All patients presented with congenital ichthyosiform erythroderma, cytoplasmic lipid droplets in blood cells, mild to severe hepatomegaly, and increased serum CK levels and liver enzymes. Three patients showed muscle symptoms and three had steathorrea. Molecular analysis identified five mutations, three of which are novel.These findings expand the clinical and mutational spectrum and underline the genetic heterogeneity of this disease.     

Effects of dietary changes on muricide activity in adult and young rats

Recent works have showed different interrelations between dietary tryptophan intake and aggressive behaviour in different groups of rats. In this experiment the AA. have treated thirty Sprague-Dawley rats (15 youngs and 15 adults) with tryptophan free-diet, during eight weeks. Muricide activity was weekly controlled; daily food intake for all group was recorded. Young rats feeding tryptophan free-diet and young rats pairfed controls showed aggressive behaviour at the sixth week of treatment. Adult rats did not show any changes of mouse killing during the whole period of experiment.     

Metabolic evaluation of urolithiasis patients from eastern Croatia

Metabolic parameters were determined in fasting blood serum, fasting first morning urine, and 24-hour urine of male patients with recurrent calcium oxalate stones (N = 26, age 39.1 +/- 6.2 years) as well as in male healthy controls (N = 18, age 35.0 +/- 7.1 years), recruited from the eastern part of Croatia. The 24-hour urinary calcium excretion was significantly higher (p < 0.01) for patients (5.6 +/- 2.5 mmol) than for controls (3.7 +/- 1.9 mmol), but potassium excretion was higher (p < 0.01) for controls (74.5 +/- 33.8 mmol) than for patients (49.2 +/- 15.7 mmol). The mean ionic activity product of calcium and oxalate ions, IAP(CaOx), calculated from the fasting first morning urine parameters, was 25% higher for patients than for controls, but the difference was not statistically significant (p > 0.05). Very strong correlation (r = 0.97) was obtained between IAP(CaOx) values and calculated Ogawa indices that were recommended for estimating the potential risk for calcium oxalate stone formation.     

The dissections of craniocervical arteries

Dissection of craniocervical arteries internal carotid artery (ICA), or vertebral artery (VA) is an increasingly recognized entity and infrequent cause of stroke. We investigated 8 patients (4 women and 4 men) with dissections of the craniocervical arteries. Diagnostic procedures for detection of craniocervical dissection included: extracranial ultrasound-color Doppler flow imaging (CDFI) of carotid and vertebral arteries, transcranial Doppler sonography (TCD) and radiological computed tomography (CT) and digital subtractive angiography (DSA) examinations. Ultrasound findings (CDFI of carotid and vertebral arteries) were positive for vessel dissection in seven patients (or 87.5 per cent) and negative in one patient. DSA was consistent with dissection in five patients (or 62.5 per cent), negative in one, while in two patients the examination was not performed due to known allergy to contrast media. Five patients (62.5 per cent) were treated with anticoagulants, one with suppressors of platelet aggregation, and two patients were operated. Six patients (75 per cent) after the treatment showed partial recovery of neurological defects, and an improvement of ultrasound finding of dissected arteries. In one patient, following operation, stroke developed with deterioration of motor deficit, and one patient was readmitted three months later due to a newly developed stroke and soon died. The diagnosis should be suspected in any young or middle-age patient with new onset of otherwise unexplained unremitting headache or neck ache, especially in association with transient or permanent focal neurological deficits.     

Optimism as a Prior Belief about the Probability of Future Reward

Optimists hold positive a priori beliefs about the future. In Bayesian statistical theory, a priori beliefs can be overcome by experience. However, optimistic beliefs can at times appear surprisingly resistant to evidence, suggesting that optimism might also influence how new information is selected and learned. Here, we use a novel Pavlovian conditioning task, embedded in a normative framework, to directly assess how trait optimism, as classically measured using self-report questionnaires, influences choices between visual targets, by learning about their association with reward progresses. We find that trait optimism relates to an a priori belief about the likelihood of rewards, but not losses, in our task. Critically, this positive belief behaves like a probabilistic prior, i.e. its influence reduces with increasing experience. Contrary to findings in the literature related to unrealistic optimism and self-beliefs, it does not appear to influence the iterative learning process directly.     

Design, synthesis and SAR of a novel series of benzimidazoles as potent NPY Y5 antagonists

A novel class of benzimidazole NPY Y5 receptor antagonists was prepared exploiting a privileged spirocarbamate moiety. The structure-activity relationship of this series and efforts to achieve a profile suitable for further development and an appropriate pharmacokinetic profile in rat are described. Optimisation led to the identification of the brain penetrant, orally bioavailable Y5 antagonist 9b which significantly inhibited the food intake induced by a Y5 selective agonist with a minimal effective dose of 30mg/kg po.     

α-Defensins Induce a Post-translational Modification of Low Density Lipoprotein (LDL) That Promotes Atherosclerosis at Normal Levels of Plasma Cholesterol

Approximately one-half of the patients who develop clinical atherosclerosis have normal or only modest elevations in plasma lipids, indicating that additional mechanisms contribute to pathogenesis. In view of increasing evidence that inflammation contributes to atherogenesis, we studied the effect of human neutrophil α-defensins on low density lipoprotein (LDL) trafficking, metabolism, vascular deposition, and atherogenesis using transgenic mice expressing human α-defensins in their polymorphonuclear leukocytes (Def^+/+). Accelerated Def^+/+ mice developed α-defensin·LDL complexes that accelerate the clearance of LDL from the circulation accompanied by enhanced vascular deposition and retention of LDL, induction of endothelial cathepsins, increased endothelial permeability to LDL, and the development of lipid streaks in the aortic roots when fed a regular diet and at normal plasma levels of LDL. Transplantation of bone marrow from Def^+/+ to WT mice increased LDL clearance, increased vascular permeability, and increased vascular deposition of LDL, whereas transplantation of WT bone marrow to Def^+/+ mice prevented these outcomes. The same outcome was obtained by treating Def^+/+ mice with colchicine to inhibit the release of α-defensins. These studies identify a potential new link between inflammation and the development of atherosclerosis.     

Lanthanum(III)-catalyzed degradation of cellulose at 250 degrees C.

Lanthanum(III) chloride was found to effectively catalyze the degradation of cellulose in water at 250 degrees C. The degradation conversion of cellulose in the presence of a catalytic amount of lanthanum chloride reached 80.3% after 180 s, which corresponded to the turnover number of 83, whereas the reaction did scarcely proceed in the absence of the catalyst. The degradation products were separately quantified as water-soluble (WS), methanol-soluble (MS), methanol-insoluble (MI), and gaseous (G) products. The HPLC and GC analyses revealed that the WS materials are mainly composed of 5-hydroxymethyl-2-furaldehyde (HMF), D-glucose, and levulinic acid. Cellobiose, the disaccharide component of cellulose, was scarcely detected during the reaction.     

Decrypting stable‐isotope (δ13C and δ15N) variability in aquatic plants

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