Agricultural Academy

Pulmonary alveolar proteinosis (PAP) is a heterogenous disorder of genetic or acquired etiologies characterized by intraalveolar accumulation of lipoproteinaceous material. The clinical course of the disease is variable, ranging from spontaneous remission to respiratory failure. The aim of the present study was to compare the biochemical and biophysical characteristics of broncho-alveolar lavage (BAL) from a patient with PAP, during the whole lung lavage (WLL) taken after each stage of the procedure. For this purpose biochemical and biophysical analysis of the clinical samples were made. The phospholipids (PLs) and the proteins concentrations of the samples were measured. For determination of protein content in broncho-alveolar lavage samples Lowry protein assay (Peterson's modifi cation) was used. The PL's concentration was determined via extraction by the method of Blight and Dyer. Thin-layer chromatography was used for determining the phospholipid profi le of the separate phospholipid components. In addition, by using the method of Axisymmetric Drop Shape Analysis, the surface characteristics: equilibrium, maximal and minimal surface tension during 10 cycles of compression-decompression in the dynamic conditions, were determined. Our results showed consecutive proteins and phospholipids content decrease during the procedure. Logically, the equilibrium surface tension was increased as a result of the decreased Phospholipids/Proteins ratio. After WLL the physiological condition of the patient was improved. The present study will be of great interest for effective implementation of the procedure of whole lung lavage in the clinical practice

Molecular Genetics Aspects of Hereditary Deafness

The genetic basis of hereditary deafness (HD) has undergone a dramatic transformation in the past 15 years. In the postgenomic era extensive research leading to the discovery of many genes essential for hearing was performed. Hereditary deafness is present in two forms – non-syndromic (70%) and syndromic (30%). Today more than 100 gene loci have been linked to nonsyndromic HD – dominant (DFNA), recessive (DFNB), X-linked forms (DFN) and some in the mtDNA. Over 60 genes are associated with syndromic HD like the most frequent syndromes of Waardenburg, Alport, Usher, and Pendred.Taking in to account the exceptional genetic heterogeneity of HD it is not surprising that the genes found so far encode a large variety of proteins with different functions in the inner ear: connected to the structure and function of cochlear hair cells (7 types of myosin, otoferlin, cadherin, actin, stereocilin, harmonin, K and other ion channels, etc; proteins expressedin non-sensorial cells (connexins – 26, 30 and 31, pendrin, otoancorin, claudin14, etc.); proteins of tectorial membrane (collagen XI, alfa tectorine).The discovery of different type of gene mutations by linkage analysis, gene sequencing and whole exome sequencing with array analysis using OtoChip will enhance undoubtably the diagnostic capabilities, genetic counseling, screening and therapy of patients with HD in the future