Search results for: Hereditary

Authors: Anjan Babu G, Sumana G, Rajasekhar M

Abstract:

Many inherited diseases and non-hereditary disorders are common in the development of renal cystic diseases. Polycystic kidney disease (PKD) is a disorder developed within the kidneys in which grouping of cysts filled with water like fluid. PKD is responsible for 5-10% of end-stage renal failure treated by dialysis or transplantation. New experimental models, application of molecular biology techniques have provided new insights into the pathogenesis of PKD. Researchers are showing keen interest for developing an automated system by applying computer aided techniques for the diagnosis of diseases. In this paper a multilayered feed forward neural network with one hidden layer is constructed, trained and tested by applying back propagation learning rule for the diagnosis of PKD based on physical symptoms and test results of urinalysis collected from the individual patients. The data collected from 50 patients are used to train and test the network. Among these samples, 75% of the data used for training and remaining 25% of the data are used for testing purpose. Further, this trained network is used to implement for new samples. The output results in normality and abnormality of the patient.

Keywords: Dialysis, Hereditary, Transplantation, Polycystic, Pathogenesis.

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Authors: V. Maciuc, Şt. Creangă, I. Gîlcă, V. Ujică

Abstract:

The paper makes part from a complex research project on Romanian Grey Steppe, a unique breed in terms of biological and cultural-historical importance, on the verge of extinction and which has been included in a preservation programme of genetic resources from Romania. The study of genetic polymorphism of protean fractions, especially kappa-casein, and the genotype relations of these lactoproteins with some quantitative and qualitative features of milk yield represents a current theme and a novelty for this breed. In the estimation of the genetic parameters we used R.E.M.L. (Restricted Maximum Likelihood) method. The main lactoprotein from milk, kappa - casein (K-cz), characterized in the specialized literature as a feature having a high degree of hereditary transmission, behaves as such in the nucleus under study, a value also confirmed by the heritability coefficient (h2 = 0.57 %). We must mention the medium values for milk and fat quantity (h2=0.26, 0.29 %) and the fat and protein percentage from milk having a high hereditary influence h2 = 0.71 - 0.63 %. Correlations between kappa-casein and the milk quantity are negative and strong. Between kappa-casein and other qualitative features of milk (fat content 0.58-0.67 % and protein content 0.77- 0.87%), there are positive and very strong correlations. At the same time, between kappa-casein and β casein (β-cz), β lactoglobulin (β- lg) respectively, correlations are positive having high values (0.37 – 0.45 %), indicating the same causes and determining factors for the two groups of features.

Keywords: breed, genetic preservation, lactoproteins, Romanian Grey Steppe

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Authors: H. Bouhamed, A. Rebai, T. Lecroq, M. Jaoua

Abstract:

The objective of our work is to develop a new approach for discovering knowledge from a large mass of data, the result of applying this approach will be an expert system that will serve as diagnostic tools of a phenomenon related to a huge information system. We first recall the general problem of learning Bayesian network structure from data and suggest a solution for optimizing the complexity by using organizational and optimization methods of data. Afterward we proposed a new heuristic of learning a Multi-Entities Bayesian Networks structures. We have applied our approach to biological facts concerning hereditary complex illnesses where the literatures in biology identify the responsible variables for those diseases. Finally we conclude on the limits arched by this work.

Keywords: Data-organization, data-optimization, automatic knowledge discovery, Multi-Entities Bayesian networks, score merging.

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Authors: Dana Gabriková, Martin Mistrík, Jarmila Bernasovská, Iveta Tóthová, Jana Kisková

Abstract:

The Roma (Gypsies) is a transnational minority with a high degree of consanguineous marriages. Similar to other genetically isolated founder populations, the Roma harbor a number of unique or rare genetic disorders. This paper discusses about a rare form of Charcot-Marie-Tooth disease – type 4G (CMT4G), also called Hereditary Motor and Sensory Neuropathy type Russe, an autosomal recessive disease caused by mutation private to Roma characterized by abnormally increased density of non-myelinated axons. CMT4G was originally found in Bulgarian Roma and in 2009 two putative causative mutations in the HK1 gene were identified. Since then, several cases were reported in Roma families mainly from Bulgaria and Spain. Here we present a Slovak Roma family in which CMT4G was diagnosed on the basis of clinical examination and genetic testing. This case is a further proof of the role of the HK1 gene in pathogenesis of the disease. It confirms that mutation in the HK1 gene is a common cause of autosomal recessive CMT disease in Roma and should be considered as a common part of a diagnostic procedure.

Keywords: Gypsies, HK1, HSMN-Russe, rare disease.

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Authors: Sadegh Masoudi, Ali Asghar Yousefi, Somayeh Nourollahi, Fatemeh Noughani

Abstract:

Two different testicular tissues have to be distinguished in regard to radiation damage: first the seminiferous tubules, corresponding to the sites of spermatogenesis, which are extremely radiosensitive. Second the testosterone secreting Leydig cells, which are considered to be less radiosensitive. This study aims to estimate testicular dose and the associated risks for infertility and hereditary effects from Abdominal and pelvic irradiation. Radiotherapy was simulated on a humanoid phantom using a 15 MV photon beam. Testicular dose was measured for various field sizes and tissue thicknesses along beam axis using an ionization chamber and TLD. For transmission Factor Also common method of measuring the absorbed dose distribution and electron contamination in the build-up region of high-energy beams for radiation therapy is by means of parallel-plate Ionisation chambers. Gonadal dose was reduced by placing lead cups around the testes supplemented by a field edge block. For a tumor dose of 100 cGy, testicular dose was 2.96-8.12 cGy depending upon the field size and the distance from the inferior field edge. The treatment at parameters, the presence of gonad shield and the somatometric characteristics determine whether testicular dose can exceed 1 Gy which allows a complete recovery of spermatogenesis.

Keywords: Absorbed Dose, Abdominal and pelvic, gonads men, Radiotherapy.

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Authors: G. Tamilpavai, C. Vishnuppriya

Abstract:

Studying DNA (deoxyribonucleic acid) sequence is useful in biological processes and it is applied in the fields such as diagnostic and forensic research. DNA is the hereditary information in human and almost all other organisms. It is passed to their generations. Earlier stage detection of defective DNA sequence may lead to many developments in the field of Bioinformatics. Nowadays various tedious techniques are used to identify defective DNA. The proposed work is to analyze and identify the cancer-causing DNA motif in a given sequence. Initially the human DNA sequence is separated as k-mers using k-mer separation rule. The separated k-mers are clustered using Self Organizing Map (SOM). Using Levenshtein distance measure, cancer associated DNA motif is identified from the k-mer clusters. Experimental results of this work indicate the presence or absence of cancer causing DNA motif. If the cancer associated DNA motif is found in DNA, it is declared as the cancer disease causing DNA sequence. Otherwise the input human DNA is declared as normal sequence. Finally, elapsed time is calculated for finding the presence of cancer causing DNA motif using clustering formation. It is compared with normal process of finding cancer causing DNA motif. Locating cancer associated motif is easier in cluster formation process than the other one. The proposed work will be an initiative aid for finding genetic disease related research.

Keywords: Bioinformatics, cancer motif, DNA, k-mers, Levenshtein distance, SOM.

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