Search results for: clinical diagnosis

Authors: Palash Dutta

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More frequently uncertainties are encountered in medical diagnosis and therefore it is the most important and interesting area of applications of fuzzy set theory. In this present study, an attempt has been made to extend Sanchez’s approach for medical diagnosis via interval valued picture fuzzy sets and exhibit the technique with suitable case studies. In this article, it is observed that a refusal can be expressed in the databases concerning the examined objects. The technique is performing diagnosis on the basis of distance measures and as a result, this approach makes it possible to introduce weights of all symptoms and consequently patient can be diagnosed directly.

Keywords: medical diagnosis, uncertainty, fuzzy set, picture fuzzy set, interval valued picture fuzzy set

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Authors: I. Dumand, C. Clesse, M. Decker, C. Savini, J. Lighezzolo-Alnot

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In the landscape of French psychiatry, long-term institutionalization of patients with severe and disabling chronics disorders is common. Faced with the failures of classical reinsertion, sometimes these users are hurriedly considered as 'insortables'. However, this representation is often swayed by the current behavior of the patient observed through the clinical observation. Unfortunately, it seems that this way of proceeding can not integrate the potentialities of the institutionalized patients and their possible evolution. Therefore, in order not to make hasty conclusions about the life perspectives of these individuals, it seems essential to associate with clinical observation a psycho social rehabilitation diagnosis. Multidisciplinary, it combine all the aspects that make up the life of the subject (the life aspirations, psycho social determinants, family support, cognitive potential, symptoms ...). In this paper, we will rank these different aspects necessary prerequisites to the realization of a psycho social rehabilitation diagnosis. Then, we will specifically speak of the issue of psychological evaluation. By adopting an integrative approach combining neuro psychological tools (Grober and Buschke, Stroop, WCST, AIPSS, WAIS, Eyes test ...) and projective tools interpreted under a psycho dynamic angle (Rorschach, TAT ..) we think that we can grasp the patient in his globality. Thus, during this process we will justify the interest of combining a cognitive and a psycho affective approach, we will identify the different items assessed and their future implications on the everyday life of the users. Finally, we show that this diagnosis can give a chance to reintegration to 30% of patients considered as ''insortables''. In conclusion, we will highlight the importance of this process dear to the community psychology emphasizing in the same time the interests of this approach in terms of empowerment, recovery and quality of life.

Keywords: assessment, potentiality, psychosocial rehabilitation diagnosis, tools

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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

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Authors: Jacob Nortey

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Introduction: In recent years, there has been an enormous success in discoveries of scientific knowledge in medicine coupled with the advancement of technology. Despite all these successes, diagnoses and treatment of diseases have become complex. According to the Ibero – American Study of Adverse Effects (IBEAS), about 10% of hospital patients suffer from secondary damage during the care process, and approximately 2% die from this process. Many clinical decision support systems have been developed to help mitigate some healthcare medical errors. Method: Relevant databases were searched, including ones that were peculiar to the clinical decision support system (that is, using google scholar, Pub Med and general google searches). The articles were then screened for a comprehensive overview of the functionality, consultative style and statistical usage of Dxplain Clinical decision support systems. Results: Inferences drawn from the articles showed high usage of Dxplain clinical decision support system for problem-based learning among students in developed countries as against little or no usage among students in Low – and Middle – income Countries. The results also indicated high usage among general practitioners. Conclusion: Despite the challenges Dxplain presents, the benefits of its usage to clinicians and students are enormous.

Keywords: dxplain, clinical decision support sytem, diagnosis, support systems

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Authors: Aamna Tufail, Kajal Kotecha, Iordanis Toursounidis, Ravinder Pabla

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Introduction/Aims: Acute Myeloid Leukaemia (AML) is a part of leukaemic group of hematopoietic disorders with a varying range of presentations, including oro-facial manifestations. Early recognition and management are essential for favourable outcomes. Materials and Methods: We present our experience, clinical presentation, and clinical photographs of a patient with previously undiagnosed AML who presented with oral symptoms to the emergency department of our hospital. An analysis of clinical characteristics, diagnostic investigations, and management modalities was performed. Results/Statistics: A 58-year-old man presented to A&E reporting an 11-day history of right sided facial swelling, acute TMJ symptoms, and oral discomfort. A dentist ruled out acute dental causes one day post onset of symptoms. Initial assessment was anatomically inconsistent and did not reveal a routine oral or maxillofacial etiology. Detailed clinical examination demonstrated fever, generalised pallor, swelling and erythema of right nasolabial region, bilateral masseteric tenderness, intraoral palatal ecchymosis, palatal ulceration, buccal and labial petechiae, cervical lymphadenopathy, and haematoma on dorsum of right hand overlying right 2nd metacarpal joint. Suspecting a systemic medical cause, we requested haematological investigations, which revealed neutropenia, thrombocytopenia, and anaemia. Flow cytometry confirmed CD34 + AML. Oral discomfort was managed symptomatically. The patient was referred to a tertiary care centre for acute haematologic care, where he was treated with IV antibiotics and continuing cycles of chemotherapy. Conclusions/Clinical Relevance: Oro-facial manifestations may be the first clinical sign of AML. Awareness of its features is vital in early diagnosis. In this context, dentists and oral medicine specialists can play an important role in detecting clinical signs of haematological disorders such as AML.

Keywords: acute myeloid leukaemia, oral symptoms, ulceration, diagnosis, management

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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

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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

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Authors: Abhishek Oswal

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Background: Inconsistencies between the guidelines for childhood asthma can pose a diagnostic challenge to clinicians. NICE guidelines are the most commonly followed guidelines in primary care in the UK; they state that to be diagnosed with asthma, a child must be more than 5 years old and must have objective evidence of the disease. When diagnoses are coded in general practice (GP), these guidelines may be superseded by communications from secondary care. Hence it is imperative that diagnoses are correct, as per up to date guidelines and evidence, as this affects follow up and management both in primary and secondary care. Methods: A snapshot audit at a general practice surgery was undertaken of children (less than 16 years old) with a coded diagnosis of 'asthma', to review the age at diagnosis and whether any objective evidence of asthma was documented at diagnosis. 50 cases of asthma in children presenting to the emergency department (ED) were then audited to review the age at presentation, whether there was evidence of previous asthma diagnosis and whether the patient was discharged from ED. A repeat audit is planned in ED this winter. Results: In a GP surgery, there were 83 coded cases of asthma in children. 51 children (61%) were diagnosed under 5, with 9 children (11%) who had objective evidence of asthma documented at diagnosis. In ED, 50 cases were collected, of which 4 were excluded as they were referred to the other services, or for incorrect coding. Of the 46 remaining, 27 diagnoses confirmed to NICE guidelines (59%). 33 children (72%) were discharged from ED. Discussion: The most likely reason for the apparent low rate of a correct diagnosis is the significant challenge of obtaining objective evidence of asthma in children. There were a number of patients who were diagnosed from secondary care services and then coded as 'asthma' in GP, without having objective documented evidence. The electronic patient record (EPR) system used in our emergency department (ED) did not allow coding of 'suspected diagnosis' or of 'viral induced wheeze'. This may have led to incorrect diagnoses coded in primary care, of children who had no confirmed diagnosis of asthma. We look forward to the re-audit, as the EPR system has been updated to allow suspected diagnoses. In contrast to the NICE guidelines used here, British Thoracic Society (BTS) guidelines allow for a trial of treatment and subsequent confirmation of diagnosis without objective evidence. It is possible that some of the cases which have been classified as incorrect in this audit may still meet other guidelines. Conclusion: The diagnosis of asthma in children is challenging. Incorrect diagnoses may be related to clinical pressures and the provision of services to allow compliance with NICE guidelines. Consensus statements between the various groups would also aid the decision-making process and diagnostic dilemmas that clinicians face, to allow more consistent care of the patient.

Keywords: asthma, diagnosis, primary care, emergency department, guidelines, audit

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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

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Authors: N. A. D. P. Niwunhella, W. G. R. C. K. Sirisena

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Appendicitis is one of the most encountered abdominal emergencies worldwide. Proper clinical diagnosis and appendicectomy with minimal post operative complications are therefore priorities. Aim of this study was to ascertain the overall management of acute appendicitis in Sri Lanka in special preference to delayed primary suturing of the surgical site, comparing other local and international treatment outcomes. Data were collected prospectively from 155 patients who underwent appendicectomy following clinical and radiological diagnosis with ultrasonography. Histological assessment was done for all the specimens. All perforated appendices were managed with delayed primary closure. Patients were followed up for 28 days to assess complications. Mean age of patient presentation was 27 years; mean pre-operative waiting time following admission was 24 hours; average hospital stay was 72 hours; accuracy of clinical diagnosis of appendicitis as confirmed by histology was 87.1%; post operative wound infection rate was 8.3%, and among them 5% had perforated appendices; 4 patients had post operative complications managed without re-opening. There was no fistula formation or mortality reported. Current study was compared with previously published data: a comparison on management of acute appendicitis in Sri Lanka vs. United Kingdom (UK). The diagnosis of current study was equally accurate, but post operative complications were significantly reduced - (current study-9.6%, compared Sri Lankan study-16.4%; compared UK study-14.1%). During the recent years, there has been an exponential rise in the use of Computerised Tomography (CT) imaging in the assessment of patients with acute appendicitis. Even though, the diagnostic accuracy without using CT, and treatment outcome of acute appendicitis in this study match other local studies as well as with data compared to UK. Therefore CT usage has not increased the diagnostic accuracy of acute appendicitis significantly. Especially, delayed primary closure may have reduced post operative wound infection rate for ruptured appendices, therefore suggest this approach for further evaluation as a safer and an effective practice in other hospitals worldwide as well.

Keywords: acute appendicitis, computerised tomography, diagnostic accuracy, delayed primary closure

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Authors: Babina Aryal

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Background: The diagnosis of pancreatitis is generally based on clinical and laboratory findings; however, Computed Tomography (CT) is an imaging technique of choice specially Contrast Enhanced Computed Tomography (CECT) shows morphological characteristic findings that allow for establishing the diagnosis of pancreatitis and determining the extent of disease severity which is done along with the administration of appropriate contrast medium. The purpose of this study was to compare Computed Tomography Dose Index (CTDI), Dose Length Product (DLP) and Effective Dose (ED) among male and female patients from Contrast Enhanced Computed Tomography (CECT) Pancreatitis Protocol. Methods: This retrospective study involved data collection based on clinical/laboratory/ultrasonography diagnosis of Pancreatitis and has undergone CECT Abdomen pancreatitis protocol. data collection involved detailed information about a patient's Age and Gender, Clinical history, Individual Computed Tomography Dose Index and Dose Length Product and effective dose. Results: We have retrospectively collected dose data from 150 among which 127 were males and 23 were females. The values obtained from the display of the CT screen were measured, calculated and compared to determine whether the CTDI, DLP and ED values were similar or not. CTDI for females was more as compared to males. The differences in CTDI values for females and males were 32.2087 and 37.1609 respectively. DLP values and Effective dose for both the genders did not show significant differences. Conclusion: This study concluded that there were no more significant changes in the DLP and ED values among both the genders however we noticed that female patients had more CTDI than males.

Keywords: computed tomography, contrast enhanced computed tomography, computed tomography dose index, dose length product, effective dose

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Authors: Alice Huffman, Joseph Hartland, Sam Gibbs

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Dermatology is often a neglected specialty in low-resource settings, despite the high morbidity associated with skin disease. This becomes even more significant when associated with HIV infection, as dermatological conditions are more common and aggressive in HIV positive patients. African countries have the highest HIV infection rates and skin conditions are frequently misdiagnosed and mismanaged, because of a lack of dermatological training and educational material. The frequent lack of diagnostic tests in the African setting renders basic clinical skills all the more vital. This project aimed to improve diagnosis and treatment of skin disease in the HIV population in a district hospital in Malawi. A basic dermatological clinical tool was developed and produced in collaboration with local staff and based on available literature and data collected from clinics. The aim was to improve diagnostic accuracy and provide guidance for the treatment of skin disease in HIV positive patients. A literature search within Embase, Medline and Google scholar was performed and supplemented through data obtained from attending 5 Antiretroviral clinics. From the literature, conditions were selected for inclusion in the resource if they were described as specific, more prevalent, or extensive in the HIV population or have more adverse outcomes if they develop in HIV patients. Resource-appropriate treatment options were decided using Malawian Ministry of Health guidelines and textbooks specific to African dermatology. After the collection of data and discussion with local clinical and pharmacy staff a list of 15 skin conditions was included and a booklet created using the simple layout of a picture, a diagnostic description of the disease and treatment options. Clinical photographs were collected from local clinics (with full consent of the patient) or from the book ‘Common Skin Diseases in Africa’ (permission granted if fully acknowledged and used in a not-for-profit capacity). This tool was evaluated by the local staff, alongside an educational teaching session on skin disease. This project aimed to reduce uncertainty in diagnosis and provide guidance for appropriate treatment in HIV patients by gathering information into one practical and manageable resource. To further this project, we hope to review the effectiveness of the tool in practice.

Keywords: dermatology, HIV, Malawi, skin disease

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Authors: Ioannis Panagiotopoulos, Aristidis Anastasakis, Konstantinos Toutouzas, Ioannis Iakovou, Charalampos Vlachopoulos, Vasilis Voudris, Georgios Tziomalos, Konstantinos Tsioufis, Efstathios Kastritis, Alexandros Briassoulis, Kimon Stamatelopoulos, Alexios Antonopoulos, Paraskevi Exadaktylou, Evanthia Giannoula, Anastasia Katinioti, Maria Kalantzi, Evangelos Leontiadis, Eftychia Smparouni, Ioannis Malakos, Nikolaos Aravanis, Argyrios Doumas, Maria Koutelou

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Introduction: Cardiac amyloidosis from Transthyretin (ATTR-CA) is an infiltrative disease characterized by the deposition of pathological transthyretin complexes in the myocardium. This study describes the characteristics of patients diagnosed with ATTR-CA from 2019 until present at the Nuclear Medicine Department of Onassis Cardiac Surgery Center and AHEPA Hospital. These centers have extensive experience in amyloidosis and modern technological equipment for its diagnosis. Materials and Methods: Records of consecutive patients (N=73) diagnosed with any type of amyloidosis were collected, analyzed, and prospectively followed. The diagnosis of amyloidosis was made using specific myocardial scintigraphy with Tc-99m DPD. Demographic characteristics, including age, gender, marital status, height, and weight, were collected in a database. Clinical characteristics, such as amyloidosis type (ATTR and AL), serum biomarkers (BNP, troponin), electrocardiographic findings, ultrasound findings, NYHA class, aortic valve replacement, device implants, and medication history, were also collected. Some of the most significant results are presented. Results: A total of 73 cases (86% male) were diagnosed with amyloidosis over four years. The mean age at diagnosis was 82 years, and the main symptom was dyspnea. Most patients suffered from ATTR-CA (65 vs. 8 with AL). Out of all the ATTR-CA patients, 61 were diagnosed with wild-type and 2 with two rare mutations. Twenty-eight patients had systemic amyloidosis with extracardiac involvement, and 32 patients had a history of bilateral carpal tunnel syndrome. Four patients had already developed polyneuropathy, and the diagnosis was confirmed by DPD scintigraphy, which is known for its high sensitivity. Among patients with isolated cardiac involvement, only 6 had left ventricular ejection fraction below 40%. The majority of ATTR patients underwent tafamidis treatment immediately after diagnosis. Conclusion: In conclusion, the experiences shared by the two centers and the continuous exchange of information provide valuable insights into the diagnosis and management of cardiac amyloidosis. Clinical suspicion of amyloidosis and early diagnostic approach are crucial, given the availability of non-invasive techniques. Cardiac scintigraphy with DPD can confirm the presence of the disease without the need for a biopsy. The ultimate goal still remains continuous education and awareness of clinical cardiologists so that this systemic and treatable disease can be diagnosed and certified promptly and treatment can begin as soon as possible.

Keywords: amyloidosis, diagnosis, myocardial scintigraphy, Tc-99m DPD, transthyretin

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Authors: S. Hallal, Z. Chami, A. Hadji-Lehtihet, S. Sokhal-Boudella, A. Berhoune, L. Yargui

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Gaucher disease is the most common lysosomal storage in our population, it is due to a deficiency of β –glucosidase acid. The enzyme deficiency causes a pathological accumulation of undegraded substrate in lysosomes. This metabolic overload is responsible for a multisystemic disease with hepatosplenomegaly, anemia, thrombocytopenia, and bone involvement. Neurological involvement is rare. The laboratory diagnosis of Gaucher disease consists of phenotypic diagnosis by determining the enzymatic activity of β - glucosidase by fluorimetric method, a study by genotypic diagnosis in the GBA gene, limiting the search recurrent mutations (N370S, L444P, 84 GG); PCR followed by an enzymatic digestion. Abnormal profiles were verified by sequencing. Monitoring of treated patients is provided by the determination of chitotriosidase. Our experience spaning a period of 6 years (2007-2014) has enabled us to diagnose 78 patients out of a total of 328 requests from the various departments of pediatrics, internal medicine, neurology. Genotypic diagnosis focused on the entire family of 9 children treated at pediatric CHU Mustapha, which help define the clinical form; or 5 of them had type III disease, carrying the L444P mutation in the homozygous state. Three others were composite (N370/L444P) (N370S/other unintended mutation in our study), and only in one family no recurrent mutation has been found. This molecular study permits screening of heterozygous essential for genetic counseling.

Keywords: Gaucher disease, mutations, N370S, L444P

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Authors: Sun-Ki Hong, Ki-Seok Kim, Yong-Ho Jo

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Lots of motors have been being used in industry. Therefore many researchers have studied about the failure diagnosis of motors. In this paper, the effect of measuring environment for diagnosis of gear fault connected to a motor shaft is studied. The fault diagnosis is executed through the comparison of normal gear and abnormal gear. The measured FFT data are compared with the normal data and analyzed for q-axis current, noise and vibration. For bad and good environment, the diagnosis results are compared. From these, it is shown that the bad measuring environment may not be able to detect exactly the motor gear fault. Therefore it is emphasized that the measuring environment should be carefully prepared.

Keywords: motor fault, diagnosis, FFT, vibration, noise, q-axis current, measuring environment

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Authors: Eda Jazexhiu-Postoli, Gladiola Hoxha, Ada Simeoni, Sonila Biba

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Background Neonatal hypotonia represents a commonly encountered issue in the Neonatal Intensive Care Unit and newborn nursery. The differential diagnosis is broad, encompassing chromosome abnormalities, primary muscular dystrophies, neuropathies and inborn errors of metabolism. Aim of study Our study describes some of the main clinical features of hypotonia in newborns and presents clinical cases of neonatal hypotonia we treated in our Neonatal unit in the last 3 years. Case reports Four neonates born in our hospital presented with hypotonia after birth, one preterm newborn 35-36 weeks of gestational age and three other term newborns (38-39 weeks of gestational age). Prenatal data revealed a decrease in fetal movements in both cases. Intrapartum meconium-stained amniotic fluid was found in 75% of our hypotonic newborns. Clinical features included inability to establish effective respiratory movements and need for resuscitation in the delivery room, respiratory distress syndrome, feeding difficulties and need for oro-gastric tube feeding, dysmorphic features, hoarse voice and moderate to severe muscular hypotonia. The genetic workup revealed the diagnosis of Autosomal Recessive Congenital Myasthenic Syndrome 1-B, Sotos Syndrome, Spinal Muscular Atrophy Type 1 and Transient Hypotonia of the Newborn. Two out of four hypotonic neonates were transferred to the Pediatric Intensive Care Unit and died at the age of three to five months old. Conclusion Hypotonia is a concerning finding in neonatal care and it is suggested by decreased intrauterine fetal movements, failure to establish first breaths, respiratory distress and feeding difficulties in the neonate. Prognosis is determined by its etiology and time of diagnosis and intervention.

Keywords: hypotonic neonate, respiratory distress, feeding difficulties, fetal movements

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Authors: Weiran An, Junyou Shi

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Health management has become one of the design goals in the research and development of new generation avionics systems, and is an important complement and development for the testability and fault diagnosis technology. Currently, the research and application for avionics system health dividing and diagnosis technology is still at the starting stage, lack of related technologies and methods reserve. In this paper, based on the health three-state dividing of avionics products, state lateral transfer coupling modeling and diagnosis reasoning method considering sub-health are researched. With the study of typical case application, the feasibility and correctness of the method and the software are verified.

Keywords: sub-health, diagnosis reasoning, three-valued coupled logic, extended dependency model, avionics

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Authors: Amira Ben Rabeh, Faouzi Benzarti, Hamid Amiri, Mouna Bouaziz

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Alzheimer is a disease that affects the brain. It causes degeneration of nerve cells (neurons) and in particular cells involved in memory and intellectual functions. Early diagnosis of Alzheimer Diseases (AD) raises ethical questions, since there is, at present, no cure to offer to patients and medicines from therapeutic trials appear to slow the progression of the disease as moderate, accompanying side effects sometimes severe. In this context, analysis of medical images became, for clinical applications, an essential tool because it provides effective assistance both at diagnosis therapeutic follow-up. Computer Assisted Diagnostic systems (CAD) is one of the possible solutions to efficiently manage these images. In our work; we proposed an application to detect Alzheimer’s diseases. For detecting the disease in early stage we used the three sections: frontal to extract the Hippocampus (H), Sagittal to analysis the Corpus Callosum (CC) and axial to work with the variation features of the Cortex(C). Our method of classification is based on Support Vector Machine (SVM). The proposed system yields a 90.66% accuracy in the early diagnosis of the AD.

Keywords: Alzheimer Diseases (AD), Computer Assisted Diagnostic(CAD), hippocampus, Corpus Callosum (CC), cortex, Support Vector Machine (SVM)

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Authors: Abiola Falilat Ibraheem, Akinyimika Sowunmi, Valerie Otti

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Background: Introduction of innovative cancer clinical trials to Nigeria is a critical step in addressing global inequities of cancer burden. Low health and clinical trial literacy among Nigerian patients have been sighted as a significant barrier to ensuring that patients enrolled in clinical trials are truly informed. Video intervention has been shown to be the most proactive method to improving patient’s clinical trial knowledge. In the US, video interventions have been successful at improving education about cancer clinical trials among minority patients. Thus, this study aimed to apply and adapt video interventions addressing attitudinal barriers peculiar to Nigerian patients. Methods: A hospital-based representative mixed-method study was conducted at the Lagos State University Teaching Hospital (LASUTH) from July to December 2020, comprising of cancer patients aged 18 and above. Patients were randomly selected during every clinic day, of which 63 patients volunteered to participate in this study. We first administered a cancer literacy survey to determine patients’ knowledge about clinical trials. For patients who had prior knowledge, a pre-intervention test was administered, after which a 15-minute video (attitudes and intention to enroll in therapeutic clinical trials (AIET)) to improve patients’ knowledge, perception, and attitudes towards clinical trials was played, and then ended by administering a post-intervention test to the patients. For patients who had no prior knowledge, the AIET video was played for them, followed by the post-intervention test. Results: Out of 63 patients sampled, 43 (68.3%) had breast cancer. On average, patients agreed to understand their cancer diagnosis and treatment very well. 84.1% of patients had never heard about cancer clinical trials, and 85.7% did not know what cancer clinical trials were. There was a strong positive relationship (r=0.916) between the pretest and posttest, which means that the intervention improved patients’ knowledge, perception, and attitudes about cancer clinical trials. In the focus groups, patients recommended adapting the video in Nigerian settings and representing all religions in order to address trust in local clinical trialists. Conclusion: Due to the small size of patients, change in clinical trial knowledge was not statistically significant. However, there is a trend suggesting that culturally adapted video interventions can be used to improve knowledge and perception about cancer clinical trials.

Keywords: clinical trials, culturally targeted intervention, patient education, video intervention

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Authors: Sneha Shankar, Orlando Buendia, Will Evans

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Alpha-1 antitrypsin deficiency (AATD) is a rare, genetic, and multisystemic condition. Underdiagnosis is common, leading to chronic pulmonary and hepatic complications, increased resource utilization, and additional costs to the healthcare system. Currently, there is limited evidence of the direct medical costs of AATD diagnosis in the UK. This study explores the economic impact of AATD patients during the 3 years before diagnosis and to identify the major cost drivers using primary and secondary care electronic health record (EHR) data. The 3 years before diagnosis time period was chosen based on the ability of our tool to identify patients earlier. The AATD algorithm was created using published disease criteria and applied to 148 known AATD patients’ EHR found in a primary care database of 936,148 patients (413,674 Biobank and 501,188 in a single primary care locality). Among 148 patients, 9 patients were flagged earlier by the tool and, on average, could save 3 (1-6) years per patient. We analysed 101 of the 148 AATD patients’ primary care journey and 20 patients’ Hospital Episode Statistics (HES) data, all of whom had at least 3 years of clinical history in their records before diagnosis. The codes related to laboratory tests, clinical visits, referrals, hospitalization days, day case, and inpatient admissions attributable to AATD were examined in this 3-year period before diagnosis. The average cost per patient was calculated, and the direct medical costs were modelled based on the mean prevalence of 100 AATD patients in a 500,000 population. A deterministic sensitivity analysis (DSA) of 20% was performed to determine the major cost drivers. Cost data was obtained from the NHS National tariff 2020/21, National Schedule of NHS Costs 2018/19, PSSRU 2018/19, and private care tariff. The total direct medical cost of one hundred AATD patients three years before diagnosis in primary and secondary care in the UK was £3,556,489, with an average direct cost per patient of £35,565. A vast majority of this total direct cost (95%) was associated with inpatient admissions (£3,378,229). The DSA determined that the costs associated with tier-2 laboratory tests and inpatient admissions were the greatest contributors to direct costs in primary and secondary care, respectively. This retrospective study shows the role of EHRs in calculating direct medical costs and the potential benefit of new technologies for the early identification of patients with AATD to reduce the economic burden in primary and secondary care in the UK.

Keywords: alpha-1 antitrypsin deficiency, costs, digital health, early diagnosis

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Authors: Hichem Sassi

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Pneumonia, being a respiratory infection, has garnered global attention due to its rapid transmission and relatively high mortality rates. Timely detection and treatment play a crucial role in significantly reducing mortality associated with pneumonia. Presently, X-ray diagnosis stands out as a reasonably effective method. However, the manual scrutiny of a patient's X-ray chest radiograph by a proficient practitioner usually requires 5 to 15 minutes. In situations where cases are concentrated, this places immense pressure on clinicians for timely diagnosis. Relying solely on the visual acumen of imaging doctors proves to be inefficient, particularly given the low speed of manual analysis. Therefore, the integration of artificial intelligence into the clinical image diagnosis of pneumonia becomes imperative. Additionally, AI recognition is notably rapid, with convolutional neural networks (CNNs) demonstrating superior performance compared to human counterparts in image identification tasks. To conduct our study, we utilized a dataset comprising chest X-ray images obtained from Kaggle, encompassing a total of 5216 training images and 624 test images, categorized into two classes: normal and pneumonia. Employing five mainstream network algorithms, we undertook a comprehensive analysis to classify these diseases within the dataset, subsequently comparing the results. The integration of artificial intelligence, particularly through improved network architectures, stands as a transformative step towards more efficient and accurate clinical diagnoses across various medical domains.

Keywords: deep learning, computer vision, pneumonia, models, comparative study

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Authors: Shanza Akram, Sameen Toor, Heba Harb Abu Alkass, Zainab Abdulsalam Altaha, Sara Taha Abdulla, Saleem Imran

Abstract:

Acute pulmonary embolism (PE) is a common disease and can be fatal. The clinical presentation is variable and nonspecific, making accurate diagnosis difficult. Testing patients with suspected acute PE has increased dramatically. However, the overuse of some tests, particularly CT and D-dimer measurement, may not improve care while potentially leading to patient harm and unnecessary expense. CTPA is the investigation of choice for PE. Its easy availability, accuracy and ability to provide alternative diagnosis has lowered the threshold for performing it, resulting in its overuse. Guidelines have recommended the use of clinical pretest probability tools such as ‘Wells score’ to assess risk of suspected PE. Unfortunately, implementation of guidelines in clinical practice is inconsistent. This has led to low risk patients being subjected to unnecessary imaging, exposure to radiation and possible contrast related complications. Aim: To study the diagnostic yield of CT PA, clinical pretest probability of patients according to wells score and to determine whether or not there was an overuse of CTPA in our service. Methods: CT scans done on patients with suspected P.E in our hospital from 1st January 2014 to 31st December 2014 were retrospectively reviewed. Medical records were reviewed to study demographics, clinical presentation, final diagnosis, and to establish if Wells score and D-Dimer were used correctly in predicting the probability of PE and the need for subsequent CTPA. Results: 100 patients (51male) underwent CT PA in the time period. Mean age was 57 years (24-91 years). Majority of patients presented with shortness of breath (52%). Other presenting symptoms included chest pain 34%, palpitations 6%, collapse 5% and haemoptysis 5%. D Dimer test was done in 69%. Overall Wells score was low (<2) in 28 %, moderate (>2 - < 6) in 47% and high (> 6) in 15% of patients. Wells score was documented in medical notes of only 20% patients. PE was confirmed in 12% (8 male) patients. 4 had bilateral PE’s. In high-risk group (Wells > 6) (n=15), there were 5 diagnosed PEs. In moderate risk group (Wells >2 - < 6) (n=47), there were 6 and in low risk group (Wells <2) (n=28), one case of PE was confirmed. CT scans negative for PE showed pleural effusion in 30, Consolidation in 20, atelactasis in 15 and pulmonary nodule in 4 patients. 31 scans were completely normal. Conclusion: Yield of CT for pulmonary embolism was low in our cohort at 12%. A significant number of our patients who underwent CT PA had low Wells score. This suggests that CT PA is over utilized in our institution. Wells score was poorly documented in medical notes. CT-PA was able to detect alternative pulmonary abnormalities explaining the patient's clinical presentation. CT-PA requires concomitant pretest clinical probability assessment to be an effective diagnostic tool for confirming or excluding PE. . Clinicians should use validated clinical prediction rules to estimate pretest probability in patients in whom acute PE is being considered. Combining Wells scores with clinical and laboratory assessment may reduce the need for CTPA.

Keywords: CT PA, D dimer, pulmonary embolism, wells score

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Authors: Chamtouri I., Kechida M.

Abstract:

Background: Evaluation has a prominent role in medical education and graduation. This evaluation has usually done in face-to-face, by written or oral questions. Simulation is increasingly taking a part as a method of evaluation. Due to the Covid-19 pandemic, which disrupted face-to-face evaluation, simulation using serious games (SG) is emerging in the field of training and assessment of medical students. The aim of our study is to compare the results of the evaluation of medical students by virtual simulation by online serious games versus clinical case-multiple choice questions (MCQ) and to assess the degree of satisfaction from these two evaluation methods. Methods: Medical students from the same study level were voluntarily participated in this study. Groupe 1 had an evaluation by SG dealing with “diagnosis and management of ST-segment elevationmyocardialinfarction (STEMI)alreadyprepared on the website www.Mediactiv.com. Groupe 2 were evaluated by clinical case-MCQ having thes same topic as SG. Results of the two groups were compared. Satisfaction questionnaire was filled by the two groups. Satisfaction degree was compared between the two groups. Results. In this study, 64 medical students (G1:31 and G2: 33) were enrolled. Obtaining complete notes in the "questioning" and "clinical examination" parts is significantly more important in-group 1 compared to group 2. No significant difference detected between the two groups in terms of “ECG interpretation” and “diagnosis of STEMI” parts. A greater number of students of group 1 obtained the full note compared to group 2 in “the initial treatment part” (54.8% vs. 39.4%; p = 0.04). Thirty learners (96.8%) in-group 1 obtained a total score ≥ 50% versus 69.7% in-group 2 (p = 0.004). The full score of 100% was obtained in three learners in-group1, while no student scored 100% in-group2 (p = 0.027). Medical evaluation using SG was reported as more innovative, fun, and realistic compared to evaluation by clinical case-MCQ. No significant difference detected between the two methods in terms of stress. Conclusion: Simulation by SG can be considered as an innovative and effective method in evaluating medical students with a higher degree of satisfaction.

Keywords: evaluation, serious games, medical students, satisfaction

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Authors: N. N. Pilau, M. S. Abubakar, A. Danmaigoro, P. C. Mshelia, Y. Sani

Abstract:

A severely debilitated 4months old Caucasian male dog presented dehydration, emaciation, vomiting, icteric ocular and oral mucous membranes, generalized lymphadenopathy, hematuria, anorexia and prolonged recumbency. Clinical workup was done in established protocols for diagnosis based on history, clinical signs and selected laboratory tests. Treatment course were administered over 48hours during which the patient died of overwhelming hepatopathy, nephropathy and pneumonia. Postmortem findings supported by ante mortem laboratory test results tentatively diagnosed leptospirosis, a disease endemic and presenting potentially fatal epidemics and zoonoses in some countries amongst the developing regions of the world. This disease is reviewed and a call for attention on the public health significance of the disease is hereby presented through this case report.

Keywords: canine, endemic, leptospirosis, prevalence

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Authors: Recep Keşli, Onur Türkyılmaz, Hayriye Tokay, Kasım Demir

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Objective: Coeliac disease (CD) is a primary small intestine disorder caused by high sensitivity to gluten which is present in the crops, characterized by inflammation in the small intestine mucosa. The goal of this study was to determine and to compare the sensitivity and specificity values of anti-endomysial IgA (EMA IgA) (IFA) and anti-tissue transglutaminase IgA (anti-tTG IgA) (ELISA) antibodies in the diagnosis of patients suspected with the CD. Methods: One thousand two hundred seventy three patients, who have applied to gastroenterology and pediatric disease polyclinics of Afyon Kocatepe University ANS Research and Practice Hospital were included into the study between 23.09.2010 and 30.05.2016. Sera samples were investigated by immunofluorescence method for EMA positiveness (Euroimmun, Luebeck, Germany). In order to determine quantitative value of Anti-tTG IgA (EIA) (Orgentec Mainz, Germany) fully automated ELISA device (Alisei, Seac, Firenze, Italy) were used. Results: Out of 1273 patients, 160 were diagnosed with coeliac disease according to ESPGHAN 2012 diagnosis criteria. Out of 160 CD patients, 120 were female, 40 were male. The EMA specificity and sensitivity were calculated as 98% and 80% respectively. Specificity and sensitivity of Anti-tTG IgA were determined as 99% and 96% respectively. Conclusion: The specificity of EMA for CD was excellent because all EMA-positive patients (n = 144) were diagnosed with CD. The presence of human anti-tTG IgA was found as a reliable marker for diagnosis and follow-up the CD. Diagnosis of CD should be established on both the clinical and serologic profiles together.

Keywords: anti-endomysial antibody, anti-tTG IgA, coeliac disease, immunofluorescence assay (IFA)

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Authors: Salma M. Wakil

Abstract:

Advances in the field of genetics overwhelmed detecting large number of inherited disorders at the molecular level and directed to the development of innovative technologies. These innovations have led to gene sequencing, prenatal mutation detection, pre-implantation genetic diagnosis; population based carrier screening and genome wide analyses using microarrays. Microarrays are widely used in establishing clinical and diagnostic setup for genetic anomalies at a massive level, with the advent of cytoscan molecular karyotyping as a clinical utility card for detecting chromosomal aberrations with high coverage across the entire human genome. Unlike a regular karyotype that relies on the microscopic inspection of chromosomes, molecular karyotyping with cytoscan constructs virtual chromosomes based on the copy number analysis of DNA which improves its resolution by 100-fold. We have been investigating a large number of patients with Developmental Delay and Intellectual disability with this platform for establishing micro syndrome deletions and have detected number of novel CNV’s in the Arabian population with the clinical relevance.

Keywords: microarrays, molecular karyotyping, developmental delay, genetics

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Authors: Huong M. T. Nguyen, Hoa A. P. Nguyen, Chi V. Phan, Mai P. T. Nguyen, Ngoc D. Ngo, Van T. Ta, Hai T. Le

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Wilson’s disease is an autosomal recessive disorder of copper metabolism, which is caused by mutation in copper- transporting P-type ATPase (ATP7B). The mechanism of this disease is a failure of hepatic excretion of copper to the bile, and it leads to copper deposits in the liver and other organs. Most clinical symptoms of Wilson’s disease can present as liver disease and/or neurologic disease. Objective: The goal of the study is prenatal diagnosis for pregnant women at high risk of Wilson’s disease in Northern Vietnam. Material and method: Three probands with clinically diagnosed liver disease were detected in the mutations of 21 exons and exon-intron boundaries of the ATP7B gene by direct Sanger-sequencing. Prenatal diagnoses were performed by amniotic fluid sampling from pregnant women in the 16th-18th weeks of pregnancy after the genotypes of parents with the probands were identified. Result: A total of three different mutations of the probands, including of S105*, P1052L, P1273G, were detected. Among three fetuses which underwent prenatal genetic testing, one fetus was homozygote; two fetuses were carriers. Conclusion: Genetic testing provided a useful method for prenatal diagnosis, and is a basis for genetic counseling.

Keywords: ATP7B gene, genetic testing, prenatal diagnosis, pedigree, Wilson disease

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Authors: Oluwaponmile David Alao

Abstract:

Misdiagnosis has been the major problem in health sector. Heart attack has been one of diseases that have high level of misdiagnosis recorded on the part of physicians. In this paper, an intelligent system has been developed for diagnosis of heart attack in the health sector. Dataset of heart attack obtained from UCI repository has been used. This dataset is made up of thirteen attributes which are very vital in diagnosis of heart disease. The system is developed on the multilayer perceptron trained with back propagation neural network then simulated with feed forward neural network and a recognition rate of 87% was obtained which is a good result for diagnosis of heart attack in medical field.

Keywords: heart attack, artificial neural network, diagnosis, intelligent system

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Authors: Karissa A. Graham

Abstract:

Pyoderma gangrenosum (PG) is a prototypic autoinflammatory neutrophilic dermatosis that is a rare disorder. It presents a diagnostic challenge owing to its variable presentation, clinical overlap with other conditions, it is often associated with other systemic conditions, and there is no definitive histological or laboratory characteristic. The Delphai consensus for PG includes the presence of at least one ulcer on the anterior lower limb. Systemic corticosteroids and immunosuppressive therapies are the mainstay treatment for PG. We describe a case report of delayed diagnosis of ulcerative pyoderma gangrenosum in a 44-year-old male on his forearm. The patient presented with an infected ulcer on his right forearm that had been present for over three years. The patient was a Type 2 Diabetic with no personal or family history of inflammatory bowel disease or other autoimmune diseases. The patient was initially investigated for malignancy, but biopsies returned as chronic inflammatory tissue with neutrophilic infiltrate and no malignancy. The patient was commenced on systemic prednisone for the treatment of pyoderma gangrenosum. The diagnosis of ulcerative PG poses a challenge given the vast differential diagnosis for a cutaneous ulcer (i.e., malignant, vascular, autoimmune, trauma, infective, etc.). Diagnostic accuracy is important given that the treatment for PG with steroids does not go without risks and indeed may be contraindicated in other potential causes of the ulcer. Indeed, more common and more sinister causes of ulcers should be investigated first, as death from PG is quite rare.

Keywords: dermatological diagnosis, dermatosis, pyoderma gangrenosum, rare presentation

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Authors: Sadiq J. Abou-Loukh

Abstract:

The present work deals with implementation of Petri nets, which own the perfect ability of modeling, are used to establish a fault diagnosis model. Fault diagnosis of a control system received considerable attention in the last decades. The formalism of representing neural networks based on Petri nets has been presented. Neural Petri Net (NPN) reasoning model is investigated and developed for the fault diagnosis process of electric control system. The proposed NPN has the characteristics of easy establishment and high efficiency, and fault status within the system can be described clearly when compared with traditional testing methods. The proposed system is tested and the simulation results are given. The implementation explains the advantages of using NPN method and can be used as a guide for different online applications.

Keywords: petri net, neural petri net, electric control system, fault diagnosis

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