Search results for: prenatal diagnosis
1763 Strengthening of Bridges by Additional Prestressing
Authors: A. Bouhaloufa, T. Kadri, S. Zouaoui, A. Belhacene
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To put more durable bridges, it is important to maintain existing structures, rather than investing in new structures. Instead of demolishing the old bridge and replace them with new, we must preserve and upgrade using better methods of diagnosis, auscultation and repair, the interest of this work is to increase the bearing capacity bridges damaged by additional prestressing, this type of reinforcement is growing continuously. In addition to excellent static strength, prestressing also has a very high resistance to fatigue, so it is suitable to solve the problem of failure of the bearing capacity of the bridges. This failure often comes to the development of overloads in quantity and quality, that is our daily traffic has increased and become very complicated, on the other hand its constituents are advanced in weight and speed and therefore almost all old bridges became unable to support the movement of the latter and remain disabled to all these problems. The main purpose of this work includes the following three aspects: - Determination of the main diseases and factors affecting the deterioration of bridges in Algeria, - Evaluation of the bearing capacity of bridges, - Proposal technical reinforcement to improve the bearing capacity of a degraded structure.Keywords: bridges, repair, auscultation, diagnosis, pathology, additional prestressing
Procedia PDF Downloads 6121762 Intelligent Fault Diagnosis for the Connection Elements of Modular Offshore Platforms
Authors: Jixiang Lei, Alexander Fuchs, Franz Pernkopf, Katrin Ellermann
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Within the Space@Sea project, funded by the Horizon 2020 program, an island consisting of multiple platforms was designed. The platforms are connected by ropes and fenders. The connection is critical with respect to the safety of the whole system. Therefore, fault detection systems are investigated, which could detect early warning signs for a possible failure in the connection elements. Previously, a model-based method called Extended Kalman Filter was developed to detect the reduction of rope stiffness. This method detected several types of faults reliably, but some types of faults were much more difficult to detect. Furthermore, the model-based method is sensitive to environmental noise. When the wave height is low, a long time is needed to detect a fault and the accuracy is not always satisfactory. In this sense, it is necessary to develop a more accurate and robust technique that can detect all rope faults under a wide range of operational conditions. Inspired by this work on the Space at Sea design, we introduce a fault diagnosis method based on deep neural networks. Our method cannot only detect rope degradation by using the acceleration data from each platform but also estimate the contributions of the specific acceleration sensors using methods from explainable AI. In order to adapt to different operational conditions, the domain adaptation technique DANN is applied. The proposed model can accurately estimate rope degradation under a wide range of environmental conditions and help users understand the relationship between the output and the contributions of each acceleration sensor.Keywords: fault diagnosis, deep learning, domain adaptation, explainable AI
Procedia PDF Downloads 1801761 Emergency Management of Poisoning Tracery Care Hospital in India
Authors: Rajiv Ratan Singh, Sachin Kumar Tripathi, Pradeep Kumar Yadav
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The timely evaluation, diagnosis, and treatment of people who have been exposed to toxic chemicals is a crucial component of emergency poison management in the medical field. The various substances that can poison include chemicals, medications, and naturally occurring poisons. The toxicology of the particular drug involved, as well as the symptoms and indicators of poisoning, must be thoroughly understood to handle poisoning emergencies effectively. One of the most important aspects of emergency poison management in medicine is the prompt examination, diagnosis, and treatment of persons who have been exposed to dangerous substances. To properly manage poisoning crises, one must have a good understanding of the toxicology of the particular medication concerned, as well as the signs and indicators of poisoning. Emergency management of poisoning includes not only prompt medical attention but also patient education, follow-up care, and monitoring for any long-term consequences. To achieve the greatest results for patients, the management of poisoning is a complicated and dynamic process that calls for collaboration between medical professionals, first responders, and toxicologists. All poisoned patients who present to the emergency room are assessed and diagnosed based on a collection of symptoms and a biochemical diagnosis, and they are then provided targeted, specialized treatment for the toxin identified. This article focuses on the loxodromic strategy as the primary method of treatment for poisoned patients. The authors of this article conclude that mortality and morbidity can be reduced if patients visit the emergency room promptly and receive targeted treatment.Keywords: antidotes, blood poisoning, emergency medicine, gastric lavage, medico-legal aspects, patient care
Procedia PDF Downloads 1011760 The Dose to Organs in Lumbar-Abdominal Computed Tomography Imaging Using TLD
Authors: M. Zehtabian, Z. Molaiemanesh, Z. Shafahi, M. Papie, M. Zahraie Moghaddam, M. Mehralizadeh, M. R. Vahidi, S. Sina
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The introduction of CT scans has been a great improvement in diagnosis of different diseases. However, this imaging modality can expose the patients to cumulative radiation doses which may increase the risks of some health problems like cancer. In this study, the dose delivered to different organs in lumbar-abdominal imaging was measured by putting the TLD-100, and TLD-100H chips inside the Alderson Rando phantom. The lumbar-abdominal image of the phantom was obtained, while TLD chips were inside the holes of the phantom. According to the results obtained in this study using TLD-100 chips, the average dose received by liver, bladder, rectum, kidneys, and uterus were found to be 12.9 mSv, 8.9 mSv, 10.1 mSv, 11.0 mSv, 11.2 mSv, and 10.5 mSv respectively, while the measurements performed by TLD-100H show that the average dose to liver, bladder, rectum, kidneys, and uterus were found to be 12.4 mSv, 9.2 mSv, 9.5 mSv, 10.5 mSv, 10.7 mSv, and 9.9 mSv respectively. The results of this study indicates that the dose measured by the TLD-100H chips are in close agreement with those obtained by TLD-100.Keywords: CT scan, dose, TLD-100, diagnosis
Procedia PDF Downloads 6351759 GPU Based High Speed Error Protection for Watermarked Medical Image Transmission
Authors: Md Shohidul Islam, Jongmyon Kim, Ui-pil Chong
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Medical image is an integral part of e-health care and e-diagnosis system. Medical image watermarking is widely used to protect patients’ information from malicious alteration and manipulation. The watermarked medical images are transmitted over the internet among patients, primary and referred physicians. The images are highly prone to corruption in the wireless transmission medium due to various noises, deflection, and refractions. Distortion in the received images leads to faulty watermark detection and inappropriate disease diagnosis. To address the issue, this paper utilizes error correction code (ECC) with (8, 4) Hamming code in an existing watermarking system. In addition, we implement the high complex ECC on a graphics processing units (GPU) to accelerate and support real-time requirement. Experimental results show that GPU achieves considerable speedup over the sequential CPU implementation, while maintaining 100% ECC efficiency.Keywords: medical image watermarking, e-health system, error correction, Hamming code, GPU
Procedia PDF Downloads 2901758 Implementation and Comparative Analysis of PET and CT Image Fusion Algorithms
Authors: S. Guruprasad, M. Z. Kurian, H. N. Suma
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Medical imaging modalities are becoming life saving components. These modalities are very much essential to doctors for proper diagnosis, treatment planning and follow up. Some modalities provide anatomical information such as Computed Tomography (CT), Magnetic Resonance Imaging (MRI), X-rays and some provides only functional information such as Positron Emission Tomography (PET). Therefore, single modality image does not give complete information. This paper presents the fusion of structural information in CT and functional information present in PET image. This fused image is very much essential in detecting the stages and location of abnormalities and in particular very much needed in oncology for improved diagnosis and treatment. We have implemented and compared image fusion techniques like pyramid, wavelet, and principal components fusion methods along with hybrid method of DWT and PCA. The performances of the algorithms are evaluated quantitatively and qualitatively. The system is implemented and tested by using MATLAB software. Based on the MSE, PSNR and ENTROPY analysis, PCA and DWT-PCA methods showed best results over all experiments.Keywords: image fusion, pyramid, wavelets, principal component analysis
Procedia PDF Downloads 2831757 Cytology Is a Promising Tool for the Diagnosis of High-Grade Serous Ovarian Carcinoma from Ascites
Authors: Miceska Simona, Škof Erik, Frković Grazio Snježana, Jeričević Anja, Smrkolj Špela, Cvjetićanin Branko, Novaković Srdjan, Grčar Kuzmanov Biljana, Kloboves-Prevodnik Veronika
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Objectives: High-grade serous ovarian cancer (HGSOC) is characterized by the dissemination of the tumor cells (TC) in the peritoneal cavity forming malignant ascites at the time of diagnosis or recurrence. Still, cytology itself has been underutilized as a modality for the diagnosis of HGSOC from ascites, and histological examination from the tumor tissue is yet the only validated method used. The objective of this study was to evaluate the reliability of cytology in the diagnosis of HGSOC in relation to the histopathological examination. Methods: The study included 42 patients with histologically confirmed HGSOC, accompanied by malignant ascites. To confirm the malignancy of the TC in the ascites and to define their immunophenotype, immunohistochemical reaction (IHC) of the following antigens: Calretinin, MOC, WT1, PAX8, p53, p16 & Ki-67 was evaluated on ascites cytospins and tissue blocks. For complete cytological determination of HGSOC, BRCA 1/2 gene mutation was determined from ascites, tissue block, and blood. BRCA1/2 mutation from blood was performed to define the type of mutation, somatic vs germline. Results: Among 42 patients, the immunophenotype of HGSOC from ascites was confirmed in 36 cases (86%). For more profound analysis, the patients were divided in 3 groups regarding the number of TC present in the ascites: patients with less than 10% TC, 10% TC, and more than 10% TC. From all included patients, in the group with less than 10% TC, there were 10 cases, and only 5 of them(50%) showed HGSOC phenotype; 12 cases had equally 10% of TC, and 11 cases (92%) showed HGSOC phenotype; 20 cases had more than 10% TC and all of them (100%) confirmed the HGSOC immunophenotype from ascites. Only 33 patients were eligible for further BRCA1/2 analysis. Eleven BRCA1/2 mutations were detected from thetissue block: 6 germline and 5 somatic. In 2 cases with less than 10% TC, BRCA1/2 mutation was not detected; 4 cases had 10% TC, and 2 of them (50%) confirmed the mutation; 4 cases had more than 10% TC, and all showed 100% reliability with the tumor tissue. Conclusions: Cytology is a highly reliable method for determining the immunophenotype of HGSOC and BRCA1/2 mutation if more than 10% of tumor cells are present in the ascites. This may present an additional non-invasive clinical approach for fast and effective diagnose in the future, especially in inoperable conditions or relapses.Keywords: cytology, ascites, high-grade serous ovarian cancer, immunophenotype, BRCA1/2
Procedia PDF Downloads 1881756 The Combination Of Aortic Dissection Detection Risk Score (ADD-RS) With D-dimer As A Diagnostic Tool To Exclude The Diagnosis Of Acute Aortic Syndrome (AAS)
Authors: Mohamed Hamada Abdelkader Fayed
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Background: To evaluate the diagnostic accuracy of (ADD-RS) with D-dimer as a screening test to exclude AAS. Methods: We conducted research for the studies examining the diagnostic accuracy of (ADD- RS)+ D-dimer to exclude the diagnosis of AAS, We searched MEDLINE, Embase, and Cochrane of Trials up to 31 December 2020. Results: We identified 3 studies using (ADD-RS) with D-dimer as a diagnostic tool for AAS, involving 3261 patients were AAS was diagnosed in 559(17.14%) patients. Overall results showed that the pooled sensitivities were 97.6 (95% CI 0.95.6, 99.6) at (ADD-RS)≤1(low risk group) with D-dimer and 97.4(95% CI 0.95.4,, 99.4) at (ADD-RS)>1(High risk group) with D-dimer., the failure rate was 0.48% at low risk group and 4.3% at high risk group respectively. Conclusions: (ADD-RS) with D-dimer was a useful screening test with high sensitivity to exclude Acute Aortic Syndrome.Keywords: aortic dissection detection risk score, D-dimer, acute aortic syndrome, diagnostic accuracy
Procedia PDF Downloads 2151755 A Cost-Benefit Analysis of Routinely Performed Transthoracic Echocardiography in the Setting of Acute Ischemic Stroke
Authors: John Rothrock
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Background: The role of transthoracic echocardiography (TTE) in the diagnosis and management of patients with acute ischemic stroke remains controversial. While many stroke subspecialist reserve TTE for selected patients, others consider the procedure obligatory for most or all acute stroke patients. This study was undertaken to assess the cost vs. benefit of 'routine' TTE. Methods: We examined a consecutive series of patients who were admitted to a single institution in 2019 for acute ischemic stroke and underwent TTE. We sought to determine the frequency with which the results of TTE led to a new diagnosis of cardioembolism, redirected therapeutic cerebrovascular management, and at least potentially influenced the short or long-term clinical outcome. We recorded the direct cost associated with TTE. Results: There were 1076 patients in the study group, all of whom underwent TTE. TTE identified an unsuspected source of possible/probable cardioembolism in 62 patients (6%), confirmed an initially suspected source (primarily endocarditis) in an additional 13 (1%) and produced findings that stimulated subsequent testing diagnostic of possible/probable cardioembolism in 7 patients ( < 1%). TTE results potentially influenced the clinical outcome in a total of 48 patients (4%). With a total direct cost of $1.51 million, the mean cost per case wherein TTE results potentially influenced the clinical outcome in a positive manner was $31,375. Diagnostically and therapeutically, TTE was most beneficial in 67 patients under the age of 55 who presented with 'cryptogenic' stroke, identifying patent foramen ovale in 21 (31%); closure was performed in 19. Conclusions: The utility of TTE in the setting of acute ischemic stroke is modest, with its yield greatest in younger patients with cryptogenic stroke. Given the greater sensitivity of transesophageal echocardiography in detecting PFO and evaluating the aortic arch, TTE’s role in stroke diagnosis would appear to be limited.Keywords: cardioembolic, cost-benefit, stroke, TTE
Procedia PDF Downloads 1261754 Relationship between Trauma and Acute Scrotum: Test Torsion and Epididymal Appendix Torsion
Authors: Saimir Heta, Kastriot Haxhirexha, Virtut Velmishi, Nevila Alliu, Ilma Robo
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Background: Testicular rotation can occur at any age. The possibility to save the testicle is the fastest possible surgical intervention which is indicated by the presence of acute pain even at rest. The time element is more important to diagnose and proceed further with surgical intervention. Testicular damage is a consequence which mainly depends on the moment of onset of symptoms, at the time when the symptoms are diagnosed, the earliest action to be performed is surgical intervention. Sometimes medical tests are needed to confirm a diagnosis, or to help identify another cause for symptoms; for example, the urine test, that is used to check for infection, associated with the scrotal ultrasound test. Control of blood flow to the longitudinal supply vessels of the testicles is indicated. The sign that indicates testicular rotation is a reduction in blood flow. This is the element which is distinguished from ultrasound examination. Surgery may be needed to determine if the patient’s symptoms are caused by the rotation of the testis or any other condition. Discussion: As a surgical intervention of the emergency, the torsion of the test depends very much on the duration of the torsion, as the success in the life of the testicle depends on the fastest surgical intervention. From the previous clinic, it is noted that in any case presented to the pediatric patient diagnosed with testicular rotation, there is always a link with personal history that the patient refers to the presence of a previous episode of testicular trauma. Literature supports this fact very logically. Conclusions: Salvation without testicular atrophy depends closely on establishing the diagnosis of testicular rotation as soon as possible. Following the logic above, it can be said that the diagnosis for rotation should be performed as soon as possible, to avoid consequences that will not be favorable for the patient.Keywords: acute scrotum, test torsion, newborns, clinical presentation
Procedia PDF Downloads 1501753 Computer-Aided Diagnosis System Based on Multiple Quantitative Magnetic Resonance Imaging Features in the Classification of Brain Tumor
Authors: Chih Jou Hsiao, Chung Ming Lo, Li Chun Hsieh
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Brain tumor is not the cancer having high incidence rate, but its high mortality rate and poor prognosis still make it as a big concern. On clinical examination, the grading of brain tumors depends on pathological features. However, there are some weak points of histopathological analysis which can cause misgrading. For example, the interpretations can be various without a well-known definition. Furthermore, the heterogeneity of malignant tumors is a challenge to extract meaningful tissues under surgical biopsy. With the development of magnetic resonance imaging (MRI), tumor grading can be accomplished by a noninvasive procedure. To improve the diagnostic accuracy further, this study proposed a computer-aided diagnosis (CAD) system based on MRI features to provide suggestions of tumor grading. Gliomas are the most common type of malignant brain tumors (about 70%). This study collected 34 glioblastomas (GBMs) and 73 lower-grade gliomas (LGGs) from The Cancer Imaging Archive. After defining the region-of-interests in MRI images, multiple quantitative morphological features such as region perimeter, region area, compactness, the mean and standard deviation of the normalized radial length, and moment features were extracted from the tumors for classification. As results, two of five morphological features and three of four image moment features achieved p values of <0.001, and the remaining moment feature had p value <0.05. Performance of the CAD system using the combination of all features achieved the accuracy of 83.18% in classifying the gliomas into LGG and GBM. The sensitivity is 70.59% and the specificity is 89.04%. The proposed system can become a second viewer on clinical examinations for radiologists.Keywords: brain tumor, computer-aided diagnosis, gliomas, magnetic resonance imaging
Procedia PDF Downloads 2601752 Determination of Circulating Tumor Cells in Breast Cancer Patients by Electrochemical Biosensor
Authors: Gökçe Erdemir, İlhan Yaylım, Serap Erdem-Kuruca, Musa Mutlu Can
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It has been determined that the main reason for the death of cancer disease is caused by metastases rather than the primary tumor. The cells that leave the primary tumor and enter the circulation and cause metastasis in the secondary organs are called "circulating tumor cells" (CTCs). The presence and number of circulating tumor cells has been associated with poor prognosis in many major types of cancer, including breast, prostate, and colorectal cancer. It is thought that knowledge of circulating tumor cells, which are seen as the main cause of cancer-related deaths due to metastasis, plays a key role in the diagnosis and treatment of cancer. The fact that tissue biopsies used in cancer diagnosis and follow-up are an invasive method and are insufficient in understanding the risk of metastasis and the progression of the disease have led to new searches. Liquid biopsy tests performed with a small amount of blood sample taken from the patient for the detection of CTCs are easy and reliable, as well as allowing more than one sample to be taken over time to follow the prognosis. However, since these cells are found in very small amounts in the blood, it is very difficult to capture them and specially designed analytical techniques and devices are required. Methods based on the biological and physical properties of the cells are used to capture these cells in the blood. Early diagnosis is very important in following the prognosis of tumors of epithelial origin such as breast, lung, colon and prostate. Molecules such as EpCAM, vimentin, and cytokeratins are expressed on the surface of cells that pass into the circulation from very few primary tumors and reach secondary organs from the circulation, and are used in the diagnosis of cancer in the early stage. For example, increased EpCAM expression in breast and prostate cancer has been associated with prognosis. These molecules can be determined in some blood or body fluids to be taken from patients. However, more sensitive methods are required to be able to determine when they are at a low level according to the course of the disease. The aim is to detect these molecules found in very few cancer cells with the help of sensitive, fast-sensing biosensors, first in breast cancer cells reproduced in vitro and then in blood samples taken from breast cancer patients. In this way, cancer cells can be diagnosed early and easily and effectively treated.Keywords: electrochemical biosensors, breast cancer, circulating tumor cells, EpCAM, Vimentin, Cytokeratins
Procedia PDF Downloads 2611751 Treatment of Drug-Induced Oral Ulceration with Hyaluronic Acid Gel: A Case Report
Authors: Meltem Koray, Arda Ozgon, Duygu Ofluoglu, Mehmet Yaltirik
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Oral ulcerations can be seen as a side effect of different drugs. These ulcers usually appear within a few weeks following drug treatment. In most of cases, these ulcers resist to conventional treatments, such as anesthetics, antiseptics, anti-inflammatory agents, cauterization, topical tetracycline and corticosteroid treatment. The diagnosis is usually difficult, especially in patients receiving multiple drug therapies. Hyaluronan or hyaluronic acid (HA) is a biomaterial that has been introduced as an alternative approach to enhance wound healing and also used for oral ulcer treatment. The aim of this report is to present the treatment of drug-induced oral ulceration on maxillary mucosa with HA gel. 60-year-old male patient was referred to Department of Oral and Maxillofacial Surgery complaining of oral ulcerations during few weeks. He had received chemotherapy and radiotherapy in 2014 with the diagnosis of nasopharyngeal carcinoma, and he has accompanying systemic diseases such as; cardiological, neurological diseases and gout. He is medicated with Escitalopram (Cipralex® 20mg), Quetiapine (Seroquel® 100mg), Mirtazapine (Zestat® 15mg), Acetylsalicylic acid (Coraspin® 100mg), Ramipril-hydrochlorothiazide (Delix® 2.5mg), Theophylline anhydrous (Teokap Sr® 200mg), Colchicine (Colchicum Dispert® 0.5mg), Spironolactone (Aldactone® 100mg), Levothyroxine sodium (Levotiron® 50mg). He had painful oral ulceration on the right side of maxillary mucosa. The diagnosis was 'drug-induced oral ulceration' and HA oral gel (Aftamed® Oral gel) was prescribed 3 times a day for 2 weeks. Complete healing was achieved within 3 weeks without any side effect and discomfort. We suggest that HA oral gel is a potentially useful local drug which can be an alternative for management of drug-induced oral ulcerations.Keywords: drug-induced, hyaluronic acid, oral ulceration, maxillary mucosa
Procedia PDF Downloads 2681750 MicroRNA Profiling Reveals Novel Circulating Biomarkers in Acute Phase of Myocardial Infarction
Authors: A. Maciejak, M. Kiliszek, G. Opolski, D. Tulacz, A. Segiet, K. Matlak, S. Dobrzycki, G. Sygitowicz, B. Burzynska, M. Gora
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Introduction and aims: Acute myocardial infarction (AMI) is one of the most severe cardiovascular diseases affecting millions of patients each year worldwide. An early and accurate diagnosis of AMI is essential for optimal treatment. Therefore, new approaches that can complement and improve current strategies for AMI diagnosis are urgently needed. Recent studies have revealed the presence of stable circulating myocardial-derived microRNAs (miRNAs) in human peripheral blood, suggesting that such miRNAs could serve as potential biomarkers of infarction. The present study aimed to identify differentially expressed circulating miRNAs in ST-segment elevation myocardial infarction (STEMI) patients. Materials and methods: miRNA expression profile analysis was performed using Exiqon Serum/Plasma Focus microRNA PCR panel in plasma samples of n=16 patients on the first day of AMI (admission) and in samples from the same patients collected six months after AMI. Selected miRNAs were validated by RT-qPCR using serum samples from an independent set of n=14 AMI patients. Results: The profiling study identified 46 species of plasma miRNAs that were differentially expressed (p < 0.05) on admission compared to six months after AMI. The validation in the independent group of patients confirmed that miR-133b and miR-22-5p were significantly up-regulated upon AMI. Conclusions: Our results suggest that miRNA expression profiling provides better understanding of the changes that occur in the acute phase of MI in the myocardium and could be useful in determination of the potential role of extracellular miRNAs as paracrine signaling molecules. miR-22-5p represents a novel promising biomarker for the diagnosis of acute myocardial infarction.Keywords: acute myocardial infarction, circulating microRNAs, microRNA expression profiling, miR-22-5p
Procedia PDF Downloads 3301749 Expert Supporting System for Diagnosing Lymphoid Neoplasms Using Probabilistic Decision Tree Algorithm and Immunohistochemistry Profile Database
Authors: Yosep Chong, Yejin Kim, Jingyun Choi, Hwanjo Yu, Eun Jung Lee, Chang Suk Kang
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For the past decades, immunohistochemistry (IHC) has been playing an important role in the diagnosis of human neoplasms, by helping pathologists to make a clearer decision on differential diagnosis, subtyping, personalized treatment plan, and finally prognosis prediction. However, the IHC performed in various tumors of daily practice often shows conflicting and very challenging results to interpret. Even comprehensive diagnosis synthesizing clinical, histologic and immunohistochemical findings can be helpless in some twisted cases. Another important issue is that the IHC data is increasing exponentially and more and more information have to be taken into account. For this reason, we reached an idea to develop an expert supporting system to help pathologists to make a better decision in diagnosing human neoplasms with IHC results. We gave probabilistic decision tree algorithm and tested the algorithm with real case data of lymphoid neoplasms, in which the IHC profile is more important to make a proper diagnosis than other human neoplasms. We designed probabilistic decision tree based on Bayesian theorem, program computational process using MATLAB (The MathWorks, Inc., USA) and prepared IHC profile database (about 104 disease category and 88 IHC antibodies) based on WHO classification by reviewing the literature. The initial probability of each neoplasm was set with the epidemiologic data of lymphoid neoplasm in Korea. With the IHC results of 131 patients sequentially selected, top three presumptive diagnoses for each case were made and compared with the original diagnoses. After the review of the data, 124 out of 131 were used for final analysis. As a result, the presumptive diagnoses were concordant with the original diagnoses in 118 cases (93.7%). The major reason of discordant cases was that the similarity of the IHC profile between two or three different neoplasms. The expert supporting system algorithm presented in this study is in its elementary stage and need more optimization using more advanced technology such as deep-learning with data of real cases, especially in differentiating T-cell lymphomas. Although it needs more refinement, it may be used to aid pathological decision making in future. A further application to determine IHC antibodies for a certain subset of differential diagnoses might be possible in near future.Keywords: database, expert supporting system, immunohistochemistry, probabilistic decision tree
Procedia PDF Downloads 2241748 Endometriosis-Associated Ovarian Cancer: Clinical and Pathological Pattern
Authors: I. Ramalho, S. Campos, M. Dias
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Introduction: Endometriosis may play a role in the pathogenesis of ovarian cancer (OC), however, the risk and prognosis have not been well established. The association between these two pathologies could have an important impact on prevention and early diagnosis of OC. Objective: To analyze the prevalence of endometriosis associated ovarian cancer and related clinical, epidemiological and histopathological issues. Design: We conducted a retrospective case series analysis of patients diagnosed with endometriosis and ovarian cancer in the Gynecology Department of Coimbra University Hospital Center since 2006 to 2015. Methods: We collected data from women diagnosed with ovarian cancer, with anatomopathology records reporting findings of endometriosis in ovarian cancer patients. Patients were retrieved from the pathological records and appropriate medical records were retrospectively reviewed. Statistical analysis was performed using SPSS 22.0. Results: Histological evidence of endometriosis was found in 17 out of 261 patients diagnosed with ovarian cancer (OC) (6.51%). The most usual symptoms were pelvic pain, abdominal distension, asthenia, ascites, weight loss and nausea. Mean age at diagnosis was 61.2 ± 15.1, 41-86 years old, 33.3% were pre-menopausal patients and cancer stage distribution was predominantly stage I (31.3%) and stage III (56.3%). OC occurred unilaterally in 14 patients and 2 patients were diagnosed with a synchronous ovarian and endometrial cancer. Regarding histological type, 10 OC were classified as clear cell carcinoma (CCC), 4 endometrioid carcinomas (EC) and 3 mixed type (clear cell and endometrioid). Four ovarian carcinomas presumably arose from endometriomas: 3 CCC and 1 EC. Conclusions: In accordance with previous studies, clear cell was the most common pathological type in endometriotic patients, followed by endometrioid carcinomas, and two rare synchronous ovarian and endometrial carcinomas were registered. Although endometriosis association to OC is uncommon, endometriosis should be managed with special care in order to early diagnosis.Keywords: endometriosis, histology, observational study, ovarian cancer
Procedia PDF Downloads 2291747 A Machine Learning-Based Analysis of Autism Prevalence Rates across US States against Multiple Potential Explanatory Variables
Authors: Ronit Chakraborty, Sugata Banerji
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There has been a marked increase in the reported prevalence of Autism Spectrum Disorder (ASD) among children in the US over the past two decades. This research has analyzed the growth in state-level ASD prevalence against 45 different potentially explanatory factors, including socio-economic, demographic, healthcare, public policy, and political factors. The goal was to understand if these factors have adequate predictive power in modeling the differential growth in ASD prevalence across various states and if they do, which factors are the most influential. The key findings of this study include (1) the confirmation that the chosen feature set has considerable power in predicting the growth in ASD prevalence, (2) the identification of the most influential predictive factors, (3) given the nature of the most influential predictive variables, an indication that a considerable portion of the reported ASD prevalence differentials across states could be attributable to over and under diagnosis, and (4) identification of Florida as a key outlier state pointing to a potential under-diagnosis of ASD there.Keywords: autism spectrum disorder, clustering, machine learning, predictive modeling
Procedia PDF Downloads 1021746 Clinical and Radiological Features of Adenomyosis and Its Histopathological Correlation
Authors: Surabhi Agrawal Kohli, Sunita Gupta, Esha Khanuja, Parul Garg, P. Gupta
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Background: Adenomyosis is a common gynaecological condition that affects the menstruating women. Uterine enlargement, dysmenorrhoea, and menorrhagia are regarded as the cardinal clinical symptoms of adenomyosis. Classically it was thought, compared with ultrasonography, when adenomyosis is suspected, MRI enables more accurate diagnosis of the disease. Materials and Methods: 172 subjects were enrolled after an informed consent that had complaints of HMB, dyspareunia, dysmenorrhea, and chronic pelvic pain. Detailed history of the enrolled subjects was taken, followed by a clinical examination. These patients were then subjected to TVS where myometrial echo texture, presence of myometrial cysts, blurring of endomyometrial junction was noted. MRI was followed which noted the presence of junctional zone thickness and myometrial cysts. After hysterectomy, histopathological diagnosis was obtained. Results: 78 participants were analysed. The mean age was 44.2 years. 43.5% had parity of 4 or more. heavy menstrual bleeding (HMB) was present in 97.8% and dysmenorrhea in 93.48 % of HPE positive patient. Transvaginal sonography (TVS) and MRI had a sensitivity of 89.13% and 80.43%, specificity of 90.62% and 84.37%, positive likelihood ratio of 9.51 and 5.15, negative likelihood ratio of 0.12 and 0.23, positive predictive value of 93.18% and 88.1%, negative predictive value of 85.29% and 75% and a diagnostic accuracy of 89.74% and 82.5%. Comparison of sensitivity (p=0.289) and specificity (p=0.625) showed no statistically significant difference between TVS and MRI. Conclusion: Prevalence of 30.23%. HMB with dysmenorrhoea and chronic pelvic pain helps in diagnosis. TVS (Endomyometrial junction blurring) is both sensitive and specific in diagnosing adenomyosis without need for additional diagnostic tool. Both TVS and MRI are equally efficient, however because of certain additional advantages of TVS over MRI, it may be used as the first choice of imaging. MRI may be used additionally in difficult cases as well as in patients with existing co-pathologies.Keywords: adenomyosis, heavy menstrual bleeding, MRI, TVS
Procedia PDF Downloads 4961745 Clinical and Laboratory Diagnosis of Malaria in Surat Thani, Southern Thailand
Authors: Manas Kotepui, Chatree Ratcha, Kwuntida Uthaisar
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Malaria infection is still to be considered a major public health problem in Thailand. This study, a retrospective data of patients in Surat Thani Province, Southern Thailand during 2012-2015 was retrieved and analyzed. These data include demographic data, clinical characteristics and laboratory diagnosis. Statistical analyses were performed to demonstrate the frequency, proportion, data tendency, and group comparisons. Total of 395 malaria patients were found. Most of patients were male (253 cases, 64.1%). Most of patients (262 cases, 66.3%) were admitted at 6 am-11.59 am of the day. Three hundred and fifty-five patients (97.5%) were positive with P. falciparum. Hemoglobin, hematocrit, and MCHC between P. falciparum and P. vivax were significant different (P value<0.05).During 2012-2015, prevalence of malaria was highest in 2013. Neutrophils, lymphocytes, and monocytes were significantly changed among patients with fever ≤ 3 days compared with patients with fever >3 days. This information will guide to understanding pathogenesis and characteristic of malaria infection in Sothern Thailand.Keywords: prevalence, malaria, Surat Thani, Thailand
Procedia PDF Downloads 2761744 Kocuria Keratitis: A Rare and Diagnostically Challenging Infection of the Cornea
Authors: Sarah Jacqueline Saram, Diya Baker, Jaishree Gandhewar
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Named after the Slovakian microbiologist, Miroslav Kocur, the Kocuria spp. are an emerging cause of significant human infections. Their predilection for immunocompromised states, such as malignancy and metabolic disorders, is highlighted in the literature. The coagulase-negative, gram-positive cocci are commensals found in the skin and oropharynx of humans, and their growing presence as responsible organisms in ocular infections cannot be ignored. The severe, rapid, and unrelenting disease course associated with Kocuria keratitis is underlined in the literature. However, the clinical features are variable, which may impede making a diagnosis. Here, we describe a first account of an initial misdiagnosis due to reliance on subjective analysis features on a confocal microscope, which ultimately led to a delay in commencing the correct treatment. In documenting this, we hope to underline to clinicians the difficulties in recognising a Kocuria Rhizophilia keratitis due to its similar clinical presentation to an Acanthamoeba Keratitis, thus emphasizing the need for early investigations such as corneal scrapes to secure the correct diagnosis and prevent further harm and vision loss for the patient.Keywords: keratitis, cornea, infection, rare, Kocuria
Procedia PDF Downloads 541743 A 3-Year Evaluation Study on Fine Needle Aspiration Cytology and Corresponding Histology
Authors: Amjad Al Shammari, Ashraf Ibrahim, Laila Seada
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Background and Objectives: Incidence of thyroid carcinoma has been increasing world-wide. In the present study, we evaluated diagnostic accuracy of Fine needle aspiration (FNA) and its efficiency in early detecting neoplastic lesions of thyroid gland over a 3-year period. Methods: Data have been retrieved from pathology files in King Khalid Hospital. For each patient, age, gender, FNA, site & size of nodule and final histopathologic diagnosis were recorded. Results: Study included 490 cases where 419 of them were female and 71 male. Male to female ratio was 1:6. Mean age was 43 years for males and 38 for females. Cases with confirmed histopathology were 131. In 101/131 (77.1%), concordance was found between FNA and histology. In 30/131 (22.9%), there was discrepancy in diagnosis. Total malignant cases were 43, out of which 14 (32.5%) were true positive and 29 (67.44%) were false negative. No false positive cases could be found in our series. Conclusion: FNA could diagnose benign nodules in all cases, however, in malignant cases, ultrasound findings have to be taken into consideration to avoid missing of a microcarcinoma in the contralateral lobe.Keywords: FNA, hail, histopathology, thyroid
Procedia PDF Downloads 3351742 Novel Ultrasensitive Point of Care Device for Diagnosis of Human Schistosomiasis Mansoni
Authors: Ibrahim Aly, Waleed Elawamy, Hanan Taher, Amira Matar
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Schistosomiasis is infection with blood flukes of the genus Schistosoma, which are acquired trans-cutaneously by swimming or wading in contaminated freshwater. The present study was proposed to produce ultra-sensitive, field-friendly high-throughput rapid immunochromatography diagnostic device for accurate detection of asymptomatic parasite carriers in schistosomiasis pre-elimination settings.For assessing diagnostic potential of rapid device, 50 blood samples from patients with schistosomiasis mansoni, 29 other proven parasitic diseases and 25 blood samples as negative control were from healthy individuals were used. The sensitivity of Quantitative antigen-capture nano-ELISAwas 82 %, and specificity was 87.1 %, where the sensitivity of Nano Dot- ELISA was 86 % and specificity was 90.7 %. The sensitivity of diagnostic device was 78 % and specificity was 85.2 %, with PPV and NPV of 86.2 % and 83.1 %, respectively.The Point of care device resulted in a good performance for the diagnosis of low-intensity infections, it was able to identify 19 out of 25 (76 %) individuals with ⩽7 eggs, 10 out of 14 individuals (71.4 %) with 11–99 eggs and 100 % of individuals with 100–399 eggs.Keywords: schistosomiasis, immunochromatography, naon-dot-ELISa, diagnostis device
Procedia PDF Downloads 761741 Surface-Enhanced Raman Spectroscopy-Based Detection of SARS-CoV-2 Through In Situ One-pot Electrochemical Synthesis of 3D Au-Lysate Nanocomposite Structures on Plasmonic Au Electrodes
Authors: Ansah Iris Baffour, Dong-Ho Kim, Sung-Gyu Park
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The ongoing COVID-19 pandemic, caused by the SARS-CoV-2 virus and is gradually shifting to an endemic phase which implies the outbreak is far from over and will be difficult to eradicate. Global cooperation has led to unified precautions that aim to suppress epidemiological spread (e.g., through travel restrictions) and reach herd immunity (through vaccinations); however, the primary strategy to restrain the spread of the virus in mass populations relies on screening protocols that enable rapid on-site diagnosis of infections. Herein, we employed surface enhanced Raman spectroscopy (SERS) for the rapid detection of SARS-CoV-2 lysate on an Au-modified Au nanodimple(AuND)electrode. Through in situone-pot Au electrodeposition on the AuND electrode, Au-lysate nanocomposites were synthesized, generating3D internal hotspots for large SERS signal enhancements within 30 s of the deposition. The capture of lysate into newly generated plasmonic nanogaps within the nanocomposite structures enhanced metal-spike protein contact in 3D spaces and served as hotspots for sensitive detection. The limit of detection of SARS-CoV-2 lysate was 5 x 10-2 PFU/mL. Interestingly, ultrasensitive detection of the lysates of influenza A/H1N1 and respiratory syncytial virus (RSV) was possible, but the method showed ultimate selectivity for SARS-CoV-2 in lysate solution mixtures. We investigated the practical application of the approach for rapid on-site diagnosis by detecting SARS-CoV-2 lysate spiked in normal human saliva at ultralow concentrations. The results presented demonstrate the reliability and sensitivity of the assay for rapid diagnosis of COVID-19.Keywords: label-free detection, nanocomposites, SARS-CoV-2, surface-enhanced raman spectroscopy
Procedia PDF Downloads 1231740 Neural Network Based Decision Trees Using Machine Learning for Alzheimer's Diagnosis
Authors: P. S. Jagadeesh Kumar, Tracy Lin Huan, S. Meenakshi Sundaram
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Alzheimer’s disease is one of the prevalent kind of ailment, expected for impudent reconciliation or an effectual therapy is to be accredited hitherto. Probable detonation of patients in the upcoming years, and consequently an enormous deal of apprehension in early discovery of the disorder, this will conceivably chaperon to enhanced healing outcomes. Complex impetuosity of the brain is an observant symbolic of the disease and a unique recognition of genetic sign of the disease. Machine learning alongside deep learning and decision tree reinforces the aptitude to absorb characteristics from multi-dimensional data’s and thus simplifies automatic classification of Alzheimer’s disease. Susceptible testing was prophesied and realized in training the prospect of Alzheimer’s disease classification built on machine learning advances. It was shrewd that the decision trees trained with deep neural network fashioned the excellent results parallel to related pattern classification.Keywords: Alzheimer's diagnosis, decision trees, deep neural network, machine learning, pattern classification
Procedia PDF Downloads 2971739 The Proportion of Dysthymia Prevailing in Men and Women With Anxiety as Comorbidity
Authors: Yashvi Italiya
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Dysthymia (DD) is a much-overlooked soft mood disorder and mostly confused with other forms of chronic depression. This research paper gives a spotlight to the DD prevailing in men and women. It also focuses on one of the comorbidities of Dysthymia, i.e., Anxiety. The comorbidities, hurdles in diagnosis, the ubiquity of the disorder, and the relation of Anxiety and DD are briefly described. Gender was the main focus here because the researcher of this paper found it as a research gap while doing the literature review. The study was done through secondary data obtained primarily from a questionnaire having Alpha 0.891 reliability. T-test method of data analysis was used to test the hypotheses. The result shows that the researcher failed to accept alternative hypothesis 1 (M1 > M2), while the alternative hypothesis 2 (M1 > M2) was accepted. The ratio of DD in women (M1) is not higher than that of men (M2) (hypothesis 1). But, women are more anxious than men (hypothesis 2). It was found that comorbid Anxiety is more widespread in one gender. It further plays a significant role in mixing up the symptoms. It was concluded that the dividing line between Dysthymia and MDD is still unclear for an accurate diagnosis. There is an essential need for spreading knowledge concerning the differences between the symptoms of DD and MDD so that the actual disorder can be identified, and proper help can be received from/provided by professionals.Keywords: anxiety, comorbidity, dysthymia, gender, MDD
Procedia PDF Downloads 1391738 Thermalytix: An Advanced Artificial Intelligence Based Solution for Non-Contact Breast Screening
Authors: S. Sudhakar, Geetha Manjunath, Siva Teja Kakileti, Himanshu Madhu
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Diagnosis of breast cancer at early stages has seen better clinical and survival outcomes. Survival rates in developing countries like India are very low due to accessibility and affordability issues of screening tests such as Mammography. In addition, Mammography is not much effective in younger women with dense breasts. This leaves a gap in current screening methods. Thermalytix is a new technique for detecting breast abnormality in a non-contact, non-invasive way. It is an AI-enabled computer-aided diagnosis solution that automates interpretation of high resolution thermal images and identifies potential malignant lesions. The solution is low cost, easy to use, portable and is effective in all age groups. This paper presents the results of a retrospective comparative analysis of Thermalytix over Mammography and Clinical Breast Examination for breast cancer screening. Thermalytix was found to have better sensitivity than both the tests, with good specificity as well. In addition, Thermalytix identified all malignant patients without palpable lumps.Keywords: breast cancer screening, radiology, thermalytix, artificial intelligence, thermography
Procedia PDF Downloads 2911737 Pros and Cons of Nanoparticles on Health
Authors: Amber Shahi, Ayesha Tazeen, Abdus Samad, Shama Parveen
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Nanoparticles (NPs) are tiny particles. According to the International Organization for Standardization, the size range of NPs is in the nanometer range (1-100 nm). They show distinct properties that are not shown by larger particles of the same material. NPs are currently being used in different fields due to their unique physicochemical nature. NPs are a boon for medical sciences, environmental sciences, electronics, and textile industries. However, there is growing concern about their potential adverse effects on human health. This poster presents a comprehensive review of the current literature on the pros and cons of NPs on human health. The poster will discuss the various types of interactions of NPs with biological systems. There are a number of beneficial uses of NPs in the field of health and environmental welfare. NPs are very useful in disease diagnosis, antimicrobial action, and the treatment of diseases like Alzheimer’s. They can also cross the blood-brain barrier, making them capable of treating brain diseases. Additionally, NPs can target specific tumors and be used for cancer treatment. To treat environmental health, NPs also act as catalytic converters to reduce pollution from the environment. On the other hand, NPs also have some negative impacts on the human body, such as being cytotoxic and genotoxic. They can also affect the reproductive system, such as the testis and ovary, and sexual behavior. The poster will further discuss the routes of exposure of NPs. The poster will conclude with a discussion of the current regulations and guidelines on the use of NPs in various applications. It will highlight the need for further research and the development of standardized toxicity testing methods to ensure the safe use of NPs in various applications. When using NPs in diagnosis and treatment, we should also take into consideration their safe concentration in the body. Overall, this poster aims to provide a comprehensive overview of the pros and cons of NPs on human health and to promote awareness and understanding of the potential risks and benefits associated with their use.Keywords: disease diagnosis, human health, nanoparticles, toxicity testing
Procedia PDF Downloads 801736 The Silent Tuberculosis: A Case Study to Highlight Awareness of a Global Health Disease and Difficulties in Diagnosis
Authors: Susan Scott, Dina Hanna, Bassel Zebian, Gary Ruiz, Sreena Das
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Although the number of cases of TB in England has fallen over the last 4 years, it remains an important public health burden with 1 in 20 cases dying annually. The vast majority of cases present in non-UK born individuals with social risk factors. We present a case of non-pulmonary TB presenting in a healthy child born in the UK to professional parents. We present a case of a healthy 10 year old boy who developed acute back pain during school PE. Over the next 5 months, he was seen by various health and allied professionals with worsening back pain and kyphosis. He became increasing unsteady and for the 10 days prior to admission to our hospital, he developed fevers. He was admitted to his local hospital for tonsillitis where he suffered two falls on account of his leg weakness. A spinal X-ray revealed a pathological fracture and gibbus formation. He was transferred to our unit for further management. On arrival, the patient had lower motor neurone signs of his left leg. He underwent spinal fixture, laminectomy and decompression. Microbiology samples taken intra-operatively confirmed Mycobacterium Tuberculosis. He had a positive Mantoux and T-spot and treatment were commenced. There was no evidence of immune compromise. The patient was born in the UK, had a BCG scar and his only travel history had been two years prior to presentation when he travelled to the Phillipines for a short holiday. The patient continues to have issues around neuropathic pain, mobility, pill burden and mild liver side effects from treatment. Discussion: There is a paucity of case reports on spinal TB in paediatrics and diagnosis is often difficult due to the non-specific symptomatology. Although prognosis on treatment is good, a delayed diagnosis can have devastating consequences. This case highlights the continued need for higher index of suspicion and diagnosis in a world with changing patterns of migration and increase global travel. Surgical intervention is limited to the most serious cases to minimise further neurological damage and improve prognosis. There remains the need for a multi-disciplinary approach to deal with challenges of treatment and rehabilitation.Keywords: tuberculosis, non-pulmonary TB, public health burden, diagnostic challenge
Procedia PDF Downloads 1931735 The Problems of Women over 65 with Incontinence Diagnosis: A Case Study in Turkey
Authors: Birsel Canan Demirbag, Kıymet Yesilcicek Calik, Hacer Kobya Bulut
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Objective: This study was conducted to evaluate the problems of women over 65 with incontinence diagnosis. Methods: This descriptive study was conducted with women over 65 with incontinence diagnosis in four Family Health Centers in a city in Eastern Black Sea region between November 1, and December 20, 2015. 203, 107, 178, 180 women over 65 were registered in these centers and 262 had incontinence diagnosis at least once and had an ongoing complaint. 177 women were volunteers for the study. During home visits and using face-to-face survey methodology, participants were given socio-demographic characteristics survey, Sandvik severity scale, Incontinence Quality of Life Scale, Urogenital Distress Inventory and a questionnaire including challenges experienced due to incontinence developed by the researcher. Data were analyzed with SPSS program using percentages, numbers, Chi-square, Man-Whitney U and t test with 95% confidence interval and a significance level p <0.05. Findings: 67 ± 1.4 was the mean age, 2.05 ± 0.04 was parity, 44.5 ± 2.12 was menopause age, 66.3% were primary school graduates, 45.7% had deceased spouse, 44.4% lived in a large family, 67.2% had their own room, 77.8% had income, 89.2% could meet self- care, 73.2% had a diagnosis of mixed incontinence, 87.5% suffered for 6-20 years % 78.2 had diuretics, antidepressants and heart medicines, 20.5% had urinary fecal cases, 80.5% had bladder training at least once, 90.1% didn’t have bladder diary calendar/control training programs, 31.1% had hysterectomy for prolapse, 97.1'i% was treated with lower urinary tract infection at least once, 66.3% saw a doctor to get drug in the last three months, 76.2 could not go out alone, 99.2 % had at least one chronic disease, 87.6 % had constipation complain, 2.9% had chronic cough., 45.1% fell due to a sudden rise for toilet. Incontinence Impact Questionnaire Average score was (QOL) 54.3 ± 21.1, Sandvik score was 12.1 ± 2.5, Urogenital Distress Inventory was 47.7 ± 9.2. Difficulties experienced due to incontinence were 99.5% feeling of unhappiness, 67.1% constant feeling of urine smell due to failing to change briefs frequently, % 87.2 move away from social life, 89.7 unable to use pad, 99.2% feeling of disturbing households / other individuals, 87.5% feel dizziness/fall due to sudden rise, 87.4% feeling of others’ imperceptions about the situation, % 94.3 insomnia, 78.2 lack of assistance, 84.7% couldn’t afford urine protection briefs. Results: With this study, it was found out that there were a lot of unsolved issues at individual and community level affecting the life quality of women with incontinence. In accordance with this common problem in women, to facilitate daily life it is obvious that regular home care training programs at institutional level in our country will be effective.Keywords: health problems, incontinence, incontinence quality of life questionnaire, old age, urinary urogenital distress inventory, Sandviken severity, women
Procedia PDF Downloads 3201734 Joubert Syndrome in Children as Multicentric Screening in Ten Different Places in World
Authors: Bajraktarevic Adnan, Djukic Branka, Sporisevic Lutvo, Krdzalic Zecevic Belma, Uzicanin Sajra, Hadzimuratovic Admir, Hadzimuratovic Hadzipasic Emina, Abduzaimovic Alisa, Kustric Amer, Suljevic Ismet, Serafi Ismail, Tahmiscija Indira, Khatib Hakam, Semic Jusufagic Aida, Haas Helmut, Vladicic Aleksandra, Aplenc Richard, Kadic Deovic Aida
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Introduction: Joubert syndrome has an autosomal recessive pattern of inheritance. It is referred as the brain malfunctioning and caused due to the underdevelopment of the cerebellar vermis. Associated conditions involving the eye, the kidney, and ocular disease are well described. Aims: Research helps us better understand this diseases, Joubert syndrome and can lead to advances in diagnosis and treatment. Methods: Different several conditions have been described in which the molar tooth sign and characteristics of Joubert syndrome in ten different places in the world. Carrier testing and diagnosis are available if one of these gene mutations has been identified in an affected family member. Results: Authors have described eleven cases during twenty years of Joubert syndrome. It is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic molar tooth sign, and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. We made confirmation of diagnosis in twin sisters with Joubert syndrome with renal anomalies. Ocular symptoms have existed in seven cases (63.64%) from total eleven. Eleven cases were different sex, five boys (45.45%) and six girls (54.44%). Conclusions: Joubert syndrome is inherited as an autosomal recessive genetic disorder with several features of the disease.Keywords: Joubert syndrome, cerebellooculorenal syndrome, autosomal recessive genetic disorder (ARGD), children
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