Type D Sanfilippo disease in an 8-year-old boy; a rare cause of mental retardation

This case report describes the history of an 8-year-old boy of full Dutch extraction with mucopolysaccharidosis type III D (Sanfilippo's syndrome type D). Learning problems started at age 5 years; deterioration is only slow at present, and consistent with most of the cases described in literature. Eight of the nine cases described in the literature so far are known to be of Italian origin. Eye investigations showed bilateral peripheral cataract and a fine diffuse white corneal opacity. Ocular abnormalities of this kind have not been reported before in this type of Sanfilippo's syndrome.     

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency

Very-long-chain acyl-CoA dehydrogenase (VLCAD) catalyzes the initial rate-limiting step in mitochondrial fatty acid beta-oxidation. VLCAD deficiency is clinically heterogenous, with three major phenotypes: a severe childhood form, with early onset, high mortality, and high incidence of cardiomyopathy; a milder childhood form, with later onset, usually with hypoketotic hypoglycemia as the main presenting feature, low mortality, and rare cardiomyopathy; and an adult form, with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria, usually triggered by exercise or fasting. To examine whether these different phenotypes are due to differences in the VLCAD genotype, we investigated 58 different mutations in 55 unrelated patients representing all known clinical phenotypes and correlated the mutation type with the clinical phenotype. Our results show a clear relationship between the nature of the mutation and the severity of disease. Patients with the severe childhood phenotype have mutations that result in no residual enzyme activity, whereas patients with the milder childhood and adult phenotypes have mutations that may result in residual enzyme activity. This clear genotype-phenotype relationship is in sharp contrast to what has been observed in medium-chain acyl-CoA dehydrogenase deficiency, in which no correlation between genotype and phenotype can be established.     

Unsteady conjugated heat transfer in thick walled pipes involving two-dimensional wall and axial fluid conduction with uniform heat flux boundary condition

Transient conjugated heat transfer in thick walled pipes for thermally developing laminar flow is investigated involving two-dimensional wall and axial fluid conduction. The problem is solved numerically by a finite-difference method for hydrodynamically developed flow in a two-regional pipe, initially isothermal in which the upstream region is insulated and the downstream region is subjected to a suddenly applied uniform heat flux. A parametric study is done to analyze the effects of four defining parameters namely, wall thickness ratio, wall-to-fluid thermal conductivity ratio, wall-to-fluid thermal diffusivity ratio and the Peclet number. The results are given by non-dimensional interfacial heat flux values, and it is observed that, heat transfer characteristics are strongly dependent on the parameter values.     

BRIQUETTING OF FINE SIZE ASPHALTITE WITHOUT BINDER

ABSTRACT

In this study, the effects of particle size, moisture, briquetting pressure, and preheating temperature were investigated on briquetting without binder of S?rnak Asphaltite, having a particle size of—20 mm, 46.22% ash, 5.83% total sulphur content, and 4900 kcal/kg calorific value. At the end of the briquetting experiments; mechanical strength values of briquettes produced in optimum conditions (particle size, ? 1 mm; moisture, 3.6%; pressing value, 4 t/cm²; amount of lime, 12%) have the properties of first-class briquettes according to Turkish standards. The mechanical strength values of produced briquettes were affected positively in optimum conditions with preheating to 80°C. In combustion experiments using an upper burning stove, the combustion efficiency of briquettes, which contain 50.54% ash, 16.08% fixed carbon, 33.38% volatile matter, and 4.80% total sulphur have been calculated as 60%. During the combustion, sulphur content in smoke gas and particle emissions were determined as 2.34% and 3 mg/m³, respectively.