Search results for: Congenital%20heart%20disease

Authors: Ersin Kaya, Bulent Oran, Ahmet Arslan

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In this study, fuzzy rule-based classifier is used for the diagnosis of congenital heart disease. Congenital heart diseases are defined as structural or functional heart disease. Medical data sets were obtained from Pediatric Cardiology Department at Selcuk University, from years 2000 to 2003. Firstly, fuzzy rules were generated by using medical data. Then the weights of fuzzy rules were calculated. Two different reasoning methods as “weighted vote method" and “singles winner method" were used in this study. The results of fuzzy classifiers were compared.

Keywords: Congenital heart disease, Fuzzy rule-basedclassifiers, Classification

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Authors: D. Estrella, A. Silva, R. Zapata, H. Rubio

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A total of 100 primary caregivers (mothers, fathers, grandparents) with at least one child or grandchild with a diagnosis of congenital bilateral profound deafness were assessed in order to evaluate the functionality of families with a deaf member, who was evaluated by specialists in audiology, molecular biology, genetics and psychology. After confirmation of the clinical diagnosis, DNA from the patients and parents were analyzed in search of the 35delG deletion of the GJB2 gene to determine who possessed the mutation. All primary caregivers were provided psychological support, regardless of whether or not they had the mutation, and prior and subsequent, the family APGAR test was applied. All parents, grandparents were informed of the results of the genetic analysis during the psychological intervention. The family APGAR, after psychological and genetic counseling, showed that 14% perceived their families as functional, 62% moderately functional and 24% dysfunctional. This shows the importance of psychological support in family functionality that has a direct impact on the quality of life of these families.

Keywords: Deafness, psychological support, family, adaptation to disability.

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Authors: Seyed Mazyar Mortazavi, Masod Memari, Hasan Ali Ahmadi, Zhaleh Abed

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VACTERL association is a rare disorder with various congenital malformations. The aetiology remains unknown. Combination of at least three congenital anomalies of the following criteria is required for diagnosis: vertebral defects, anal atresia, cardiac anomalies, tracheo-esophageal fistula, renal anomalies, and limb defects. The first case was 1-day old male neonate with multiple congenital anomalies was bore from 28 years old mother. The mother had history of pregnancy with lymphocyte therapy. His anomalies included: defects in thoracic and lumbar vertebral, anal atresia, bilateral hydronephrosis, atrial septal defect, and lower limb abnormality. Other anomalies were cryptorchidism and nasal canal narrowing. The second case was born with 32 weeks gestational age from mother with history of pregnancy with lymphocyte therapy. He had thoracic vertebral defect, cardiac anomalies and renal defect. diagnosis based on clinical finding is VACTERL association. Early diagnosis is very important to investigation and treatment of other coexistence anomalies. VACTERL association in mothers with history of pregnancy with lymphocyte therapy has suggested possibly of relationship between VACTERL association and this method of pregnancy.

Keywords: Anal atresia, tracheo-esophageal fistula, atrial septal defect, lymphocyte therapy.

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Authors: F. Kovács, K. Kádár, G. Hosszú, Á. T. Balogh, T. Zsedrovits, N. Kersner, A. Nagy, Gy. Jeney

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The paper presents a novel screening method to indicate congenital heart diseases (CHD), which otherwise could remain undetected because of their low level. Therefore, not belonging to the high-risk population, the pregnancies are not subject to the regular fetal monitoring with ultrasound echocardiography. Based on the fact that CHD is a morphological defect of the heart causing turbulent blood flow, the turbulence appears as a murmur, which can be detected by fetal phonocardiography (fPCG). The proposed method applies measurements on the maternal abdomen and from the recorded sound signal a sophisticated processing determines the fetal heart murmur. The paper describes the problems and the additional advantages of the fPCG method including the possibility of measurements at home and its combination with the prescribed regular cardiotocographic (CTG) monitoring. The proposed screening process implemented on a telemedicine system provides an enhanced safety against hidden cardiac diseases.

Keywords: Cardiac murmurs, fetal phonocardiography, screening of CHDs, telemedicine system.

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Authors: D. Beckwith

Abstract:

This research explored sexual identity for women with physical disability, both congenital and acquired. It also explored whether exposure to violence or negative risk-taking had played a role in their intimate relationships. This phenomenological research used semi-structured interviews and photo elicitation with the researcher’s insider knowledge adding experiential substance and understanding to the discussion. Findings confirm sexuality for women with physical disability is marginalised and de-gendered making it less of a priority for professionals and policy makers and emphasising the need to more effectively support women with disability in relation to their sexuality, sexual expression and violence.

Keywords: Lived-experience, PhotoVoice, sexuality, violence.

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Authors: Pardeep Singh, Sanjay Sharma

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With increasing data in medical databases, medical data retrieval is growing in popularity. Some of this analysis including inducing propositional rules from databases using many soft techniques, and then using these rules in an expert system. Diagnostic rules and information on features are extracted from clinical databases on diseases of congenital anomaly. This paper explain the latest soft computing techniques and some of the adaptive techniques encompasses an extensive group of methods that have been applied in the medical domain and that are used for the discovery of data dependencies, importance of features, patterns in sample data, and feature space dimensionality reduction. These approaches pave the way for new and interesting avenues of research in medical imaging and represent an important challenge for researchers.

Keywords: CBIR, GA, Rough sets, CBMIR, SVM.

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Authors: G. Venkata Hari Prasad, P. Rajesh Kumar

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Phonocardiography is important in appraisal of congenital heart disease and pulmonary hypertension as it reflects the duration of right ventricular systoles. The systolic murmur in patients with intra-cardiac shunt decreases as pulmonary hypertension develops and may eventually disappear completely as the pulmonary pressure reaches systemic level. Phonocardiography and auscultation are non-invasive, low-cost, and accurate methods to assess heart disease. In this work an objective signal processing tool to extract information from phonocardiography signal using Wavelet is proposed to classify the murmur as normal or abnormal. Since the feature vector is large, a Binary Particle Swarm Optimization (PSO) with mutation for feature selection is proposed. The extracted features improve the classification accuracy and were tested across various classifiers including Naïve Bayes, kNN, C4.5, and SVM.

Keywords: Phonocardiography, Coiflet, Feature selection, Particle Swarm Optimization.

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Authors: Roselyn A. Maaño

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Eyes are an essential and conspicuous organ of the human body. Human eyes are outward and inward portals of the body that allows to see the outside world and provides glimpses into ones inner thoughts and feelings. Inevitable blindness and visual impairments may results from eye-related disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means. The study emphasizes innovative tools that will serve as an aid to the blind and visually impaired (VI) individuals. The researchers fabricated a prototype that utilizes the Microsoft Kinect for Windows and Arduino microcontroller board. The prototype facilitates advanced gesture recognition, voice recognition, obstacle detection and indoor environment navigation. Open Computer Vision (OpenCV) performs image analysis, and gesture tracking to transform Kinect data to the desired output. A computer vision technology device provides greater accessibility for those with vision impairments.

Keywords: Algorithms, Blind, Computer Vision, Embedded Systems, Image Analysis.

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Authors: Vallejo Michael, Acuña Edgar, Roa Juan David, Peñuela Rosa, Parra Alejandra, Casallas Daniela, Rodriguez Sheyla

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Congenital Zika Virus Syndrome is an entity composed by a variety of birth defects presented in newborns that have been exposed to the Zika Virus during pregnancy. The syndrome characteristic features are severe microcephaly, cerebral tissue abnormalities, ophthalmological abnormalities such as uveitis and chorioretinitis, arthrogryposis, clubfoot deformity and muscular tone abnormalities. The confirmatory test is the Reverse transcription polymerase chain reaction (RT-PCR) associated to the physical findings. Here we present the case of a newborn with microcephaly whose mother presented a confirmed Zika Virus infection during the third trimester of pregnancy, despite of the evident findings and the history of Zika infection the RT-PCR in amniotic and cerebrospinal fluid of the newborn was negative. RT-PCR has demonstrated a low sensibility in samples with low viral loads, reason why, we propose a clinical diagnosis in patients with clinical history of Zika Virus infection during pregnancy accompanied by evident clinical manifestations of the child.

Keywords: Zika Virus, polymerase chain reaction, microcephaly, amniotic fluid.

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Authors: Tae-Hyub Hong, Choeng-Ryul Choi, Chang-Nyung Kim

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Human heart valves diseased by congenital heart defects, rheumatic fever, bacterial infection, cancer may cause stenosis or insufficiency in the valves. Treatment may be with medication but often involves valve repair or replacement (insertion of an artificial heart valve). Bileaflet mechanical heart valves (BMHVs) are widely implanted to replace the diseased heart valves, but still suffer from complications such as hemolysis, platelet activation, tissue overgrowth and device failure. These complications are closely related to both flow characteristics through the valves and leaflet dynamics. In this study, the physiological flow interacting with the moving leaflets in a bileaflet mechanical heart valve (BMHV) is simulated with a strongly coupled implicit fluid-structure interaction (FSI) method which is newly organized based on the Arbitrary-Lagrangian-Eulerian (ALE) approach and the dynamic mesh method (remeshing) of FLUENT. The simulated results are in good agreement with previous experimental studies. This study shows the applicability of the present FSI model to the complicated physics interacting between fluid flow and moving boundary.

Keywords: Bileaflet Mechanical Heart Valve, Fluid- Structure Interaction.

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Authors: H. Merhni, A. Sbiti, I. Ratbi, A. Sefiani

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The proximal spinal muscular atrophy (SMA) is a group of neuromuscular disorders characterized by progressive muscle weakness due to the degeneration and loss of anterior motor neurons of the spinal cord. Depending on the age of onset of symptoms and their evolution, four types of SMA, varying in severity, result in a mutations of the SMN gene (survival of Motor neuron). We have analyzed the DNA of 295 patients referred to our genetic counseling; since January 1996 until October 2014; for suspected SMA. The homozygous deletion of exon 7 of the SMN gene was found in 133 patients; of which, 40.6% were born to consanguineous parents. In countries like Morocco, where the frequency of heterozygotes for SMA is high, genetic testing should be offered as first-line and, after careful clinical assessment, especially in newborns and infants with congenital hypotonia unexplained and prognosis compromise. The molecular diagnosis of SMA allows a quick and certainly diagnosis, provide adequate genetic counseling for families at risk and suggest, for couples who want prenatal diagnosis. The analysis of the SMN gene is a perfect example of genetic testing with an excellent cost/benefit ratio that can be of great interest in public health, especially in low-income countries. We emphasize in this work for the benefit of the generalization of molecular diagnosis of SMA by the technique of PCR-enzymatic digestion in other centers in Morocco.

Keywords: Exon7, PCR-digestion, SMA, SMN gene.

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Authors: Zahra Emami, Mohammad Ebrahim Khamseh, Nahid Hashemi Madani, Iman Kermani

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The aim of the study was to map scientific research on adrenal gland diseases in the Middle East countries through the Web of Science database using scientometric analysis. Data were analyzed with Excel software; and HistCite was used for mapping of the scientific texts. In this study, from a total of 268 retrieved records, 1125 authors from 328 institutions published their texts in 138 journals. Among 17 Middle East countries, Turkey ranked first with 164 documents (61.19%), Israel ranked second with 47 documents (15.53%) and Iran came in the third place with 26 documents. Most of the publications (185 documents, 69.2%) were articles. Among the universities of the Middle East, Istanbul University had the highest science production rate (9.7%). The Journal of Clinical Endocrinology & Metabolism had the highest TGCS (243 citations). In the scientific mapping, 7 clusters were formed based on TLCS (Total Local Citation Score) & TGCS (Total Global Citation Score). considering the study results, establishment of scientific connections and collaboration with other countries and use of publications on adrenal gland diseases from high ranking universities can help in the development of this field and promote the medical practice in this regard. Moreover, investigation of the formed clusters in relation to Congenital Hyperplasia and puberty related disorders can be research priorities for investigators.

Keywords: Mapping, scientific research, adrenal gland diseases, scientometric.

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Authors: Chun-Lang Chang

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According to the statistics, the prevalence of congenital hearing loss in Taiwan is approximately six thousandths; furthermore, one thousandths of infants have severe hearing impairment. Hearing ability during infancy has significant impact in the development of children-s oral expressions, language maturity, cognitive performance, education ability and social behaviors in the future. Although most children born with hearing impairment have sensorineural hearing loss, almost every child more or less still retains some residual hearing. If provided with a hearing aid or cochlear implant (a bionic ear) timely in addition to hearing speech training, even severely hearing-impaired children can still learn to talk. On the other hand, those who failed to be diagnosed and thus unable to begin hearing and speech rehabilitations on a timely manner might lose an important opportunity to live a complete and healthy life. Eventually, the lack of hearing and speaking ability will affect the development of both mental and physical functions, intelligence, and social adaptability. Not only will this problem result in an irreparable regret to the hearing-impaired child for the life time, but also create a heavy burden for the family and society. Therefore, it is necessary to establish a set of computer-assisted predictive model that can accurately detect and help diagnose newborn hearing loss so that early interventions can be provided timely to eliminate waste of medical resources. This study uses information from the neonatal database of the case hospital as the subjects, adopting two different analysis methods of using support vector machine (SVM) for model predictions and using logistic regression to conduct factor screening prior to model predictions in SVM to examine the results. The results indicate that prediction accuracy is as high as 96.43% when the factors are screened and selected through logistic regression. Hence, the model constructed in this study will have real help in clinical diagnosis for the physicians and actually beneficial to the early interventions of newborn hearing impairment.

Keywords: Data mining, Hearing impairment, Logistic regression analysis, Support vector machines

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