DeepCOMBI: explainable artificial intelligence for the analysis and discovery in genome-wide association studies.

Deep learning has revolutionized data science in many fields by greatly improving prediction performances in comparison to conventional approaches. Recently, explainable artificial intelligence has emerged as an area of research that goes beyond pure prediction improvement by extracting knowledge from deep learning methodologies through the interpretation of their results. We investigate such explanations to explore the genetic architectures of phenotypes in genome-wide association studies.

[Multiple sclerosis and familial Mediterranean fever: a case report].

Introduction: Few cases of patients with both Familial Mediterranean Fever (FMF) and Multiple Sclerosis (MS) have been reported, mainly from Turkey. Central nervous system manifestations are rare in FMF.

Case Report: We report the case of a 37-year-old right-handed man with FMF diagnosed at 17 the age of years and successfully treated with colchicine.

Gamma scintigraphic comparison of eyedrops containing pilocarpine in healthy volunteers.

The aim of the present study was to compare, in healthy human volunteers (male and female), the corneal contact time of various formulations, each containing one viscosity enhancer from the following list: a phase-transition system (gellan gum, Gelrite), a heteropolysaccharide (xanthan gum) and currently used polymers hydroxyethylcellulose, hydroxypropylmethylcellulose, or poly(vinyl alcohol). These different solutions were compared to a reference solution containing no viscosity enhancers. The corneal contact time of the formulations was evaluated over more than 20 minutes by gamma scintigraphy using Technetium-99m (Tc-99m DTPA) as a radioactive label.

Anti-sulfoglucuronyl paragloboside IgM antibodies in amyotrophic lateral sclerosis.

We report here our results on IgM anti-sulfated glucuronyl paragloboside (SGPG) antibodies in sera from patients with amyotrophic lateral sclerosis (ALS). Studies by enzyme linked immunosorbent assay on 72 ALS sera showed IgM polyclonal reactivity towards SGPG in 25 cases. The titer was high in 16 cases.

Mucoadhesion of copolymers and mixtures containing polyacrylic acid.

Water-soluble polymers were synthesized from dextran and polyacrylic acid and their ocular mucoadhesion was evaluated. One series had polyacrylic acid grafted onto the polysaccharide backbone of dextran, and another series had dextran grafted onto the polyacrylic acid backbone. Mucoadhesion of these copolymers was investigated using a tensile apparatus and compared with that of polyacrylic acid/dextran mixtures prepared in different proportions.