Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases.

Palmoplantar keratoderma is a clinically polymorphic disorder with a heterogeneous etiology characterized by marked hyperkeratotic lesions on the surface of palms and soles. Hereditary forms of palmoplantar keratoderma usually have autosomal dominant inheritance and are caused by mutations in dozens of genes, most of which belong to the keratin family. We carried out clinical and molecular genetic analysis of the affected and healthy members of four families with autosomal dominant palmoplantar keratoderma.

Towards sustainable diagnostics: replacing unstable HO by photoactive TiO in testing systems for visible and tangible diagnostics for use by blind people.

Blind and color blind people cannot use colorimetric diagnostics; the problem is especially severe in rural areas where high temperatures and the absence of electricity challenge modern diagnostics. Here we propose to replace the unstable component of a diagnostic test, HO, with stable TiO. Under UV irradiation, TiO forms reactive oxygen species that initiate polymerization of acrylamide causing liquid-to-gel transition in an analyte-dependent manner.

Liquid-to-gel transition for visual and tactile detection of biological analytes.

So far all visual and instrument-free methods have been based on a color change. However, colorimetric assays cannot be used by blind or color-blind people. Here we introduce a liquid-to-gel transition as a general output platform.

Nonequilibrium Hybridization Enables Discrimination of a Point Mutation within 5-40 °C.

Detection of point mutations and single nucleotide polymorphisms in DNA and RNA has a growing importance in biology, biotechnology, and medicine. For the application at hand, hybridization assays are often used. Traditionally, they differentiate point mutations only at elevated temperatures (>40 °C) and in narrow intervals (ΔT = 1-10 °C).

Bioelectronic Interface Connecting Reversible Logic Gates Based on Enzyme and DNA Reactions.

It is believed that connecting biomolecular computation elements in complex networks of communicating molecules may eventually lead to a biocomputer that can be used for diagnostics and/or the cure of physiological and genetic disorders. Here, a bioelectronic interface based on biomolecule-modified electrodes has been designed to bridge reversible enzymatic logic gates with reversible DNA-based logic gates. The enzyme-based Fredkin gate with three input and three output signals was connected to the DNA-based Feynman gate with two input and two output signals-both representing logically reversible computing elements.

Comparative analysis of age dynamics of average values of body dimensions in children from birth to 7 years.

Mean values of different body dimensions in different age cohorts of children make it possible to learn a lot about their dynamic changes. Their comparative analysis, as is usually practiced, in fact leads to a simple description of changes in measurement units (mm or cm) at the average level of some body dimension during a shorter or longer period of time. To estimate comparative intensity of the growth process of different body dimensions, the authors use the analogue of Mahalanobis distance, the so-called Kullback divergence (1967), which does not demand stability of dispersion or correlation coefficients of dimensions in compared cohorts of children.