Search results for: prenatal diagnosis

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: Madeleine Cox

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Objective: discussion of diagnosis of vernix caseosa peritonitis, recovery and subsequent caesarean seciton Case: 30 year old G4P1 presented in labour at 40 weeks, planning a vaginal birth afterprevious caesarean section. She underwent an emergency caesarean section due to concerns for fetal wellbeing on CTG. She was found to have a thin lower segment with a very small area of dehiscence centrally. The operation was uncomplicated, and she recovered and went home 2 days later. She then represented to the emergency department day 6 post partum feeling very unwell, with significant abdominal pain, tachycardia as well as urinary retention. Raised white cell count of 13.7 with neutrophils of 11.64, CRP of 153. An abdominal ultrasound was poorly tolerated by the patient and did not aide in the diagnosis. Chest and abdominal xray were normal. She underwent a CT chest and abdomen, which found a small volume of free fluid with no apparent collection. Given no obvious cause of her symptoms were found and the patient did not improve, she had a repeat CT 2 days later, which showed progression of free fluid. A diagnostic laparoscopy was performed with general surgeons, which reveled turbid fluid, an inflamed appendix which was removed. The patient improved remarkably post operatively. The histology showed periappendicitis with acute appendicitis with marked serosal inflammatory reaction to vernix caseosa. Following this, the patient went on to recover well. 4 years later, the patient was booked for an elective caesarean section, on entry into the abdomen, there were very minimal adhesions, and the surgery and her subsequent recovery was uncomplicated. Discussion: this case represents the diagnostic dilemma of a patient who presents unwell without a clear cause. In this circumstance, multiple modes of imaging did not aide in her diagnosis, and so she underwent diagnostic surgery. It is important to evaluate if a patient is or is not responding to the typical causes of post operative pain and adjust management accordingly. A multiteam approach can help to provide a diagnosis for these patients. Conclusion: Vernix caseosa peritonitis is a rare cause of acute abdomen post partum. There are few reports in the literature of the initial presentation and no reports on the possible effects on future pregnancies. This patient did not have any complications in her following pregnancy or delivery secondary to her diagnosis of vernix caseosa peritonitis. This may assist in counselling other women who have had this uncommon diagnosis.

Keywords: peritonitis, obstetrics, caesarean section, pain

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Authors: Ali Berkan Ural

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This paper presents the analysis, evaluation, and pre-diagnosis of early stage breast based diagnostic problems (breast cancer, nodulesorlumps) by Computer Aided Diagnosing (CAD) system from mammogram radiological images. According to the statistics, the time factor is crucial to discover the disease in the patient (especially in women) as possible as early and fast. In the study, a new algorithm is developed using advanced image processing and deep learning method to detect and classify the problem at earlystagewithmoreaccuracy. This system first works with image processing methods (Image acquisition, Noiseremoval, Region Growing Segmentation, Morphological Operations, Breast BorderExtraction, Advanced Segmentation, ObtainingRegion Of Interests (ROIs), etc.) and segments the area of interest of the breast and then analyzes these partly obtained area for cancer detection/lumps in order to diagnosis the disease. After segmentation, with using the Spectrogramimages, 5 different deep learning based methods (specified Convolutional Neural Network (CNN) basedAlexNet, ResNet50, VGG16, DenseNet, Xception) are applied to classify the breast based problems.

Keywords: computer aided diagnosis, breast cancer, region growing, segmentation, deep learning

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Authors: Toufik Bensana, Medkour Mihoub, Slimane Mekhilef

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The use of vibration analysis has been established as the most common and reliable method of analysis in the field of condition monitoring and diagnostics of rotating machinery. Rolling bearings cover a broad range of rotary machines and plays a crucial role in the modern manufacturing industry. Unfortunately, the vibration signals collected from a faulty bearing are generally nonstationary, nonlinear and with strong noise interference, so it is essential to obtain the fault features correctly. In this paper, a novel numerical analysis method based on local mean decomposition (LMD) is proposed. LMD decompose the signal into a series of product functions (PFs), each of which is the product of an envelope signal and a purely frequency modulated FM signal. The envelope of a PF is the instantaneous amplitude (IA), and the derivative of the unwrapped phase of a purely flat frequency demodulated (FM) signal is the IF. After that, the fault characteristic frequency of the roller bearing can be extracted by performing spectrum analysis to the instantaneous amplitude of PF component containing dominant fault information. The results show the effectiveness of the proposed technique in fault detection and diagnosis of rolling element bearing.

Keywords: fault diagnosis, rolling element bearing, local mean decomposition, condition monitoring

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Authors: Lakshmi Rao Kandukuri, Mamata Deenadayal, Suma Prasad, Bipin Sethi, Srinadh Buragadda, Lalji Singh

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Worldwide; at least 7.6 million children are born annually with severe genetic or congenital malformations and among them 90% of these are born in mid and low-income countries. Precise prevalence data are difficult to collect, especially in developing countries, owing to the great diversity of conditions and also because many cases remain undiagnosed. The genetic and congenital disorder is the second most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. The higher prevalence of genetic diseases in a particular community may, however, be due to some social or cultural factors. Such factors include the tradition of consanguineous marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome and may cause early death or life-long chronic morbidity. Genetic testing for several genetic diseases identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use and more are being developed. Chromosomal abnormalities are the major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. We present here especially chromosomal abnormalities which form a major part of genetic disease burden in India. Different programmes on chromosome research and human reproductive genetics primarily relate to infertility since this is a major public health problem in our country, affecting 10-15 percent of couples. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding the continuation of pregnancy. In addition to the basic research, the team is providing chromosome diagnostic services that include conventional and advanced techniques for identifying various genetic defects. Other than routine chromosome diagnosis for infertility, also include patients with short stature, hypogonadism, undescended testis, microcephaly, delayed developmental milestones, familial, and isolated mental retardation, and cerebral palsy. Thus, chromosome diagnostics has found its applicability not only in disease prevention and management but also in guiding the clinicians in certain aspects of treatment. It would be appropriate to affirm that chromosomes are the images of life and they unequivocally mirror the states of human health. The importance of genetic counseling is increasing with the advancement in the field of genetics. The genetic counseling can help families to cope with emotional, psychological, and medical consequences of genetic diseases.

Keywords: India, chromosome abnormalities, genetic disorders, cytogenetic study

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Authors: Somia Bouzid, Messaoud Ramdani

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The success of any diagnosis strategy critically depends on the sensors measuring process variables. This paper presents a detection and diagnosis sensor faults method based on a Bottleneck Neural Network (BNN). The BNN approach is used as a statistical process control tool for drinking water distribution (DWD) systems to detect and isolate the sensor faults. Variable reconstruction approach is very useful for sensor fault isolation, this method is validated in simulation on a nonlinear system: actual drinking water distribution system. Several results are presented.

Keywords: fault detection, localization, PCA, NLPCA, auto-associative neural network

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Authors: Sanjeewa Seneviratne, Ian Campbell, Nina Scott, Ross Lawrenson

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Introduction: Indigenous Māori women experience a 60% higher breast cancer mortality rate compared with European women in New Zealand. We explored the impact of difference in the rate of screen detected breast cancer between Māori and European women on more advanced disease at diagnosis and lower survival in Māori women. Methods: All primary in-situ and invasive breast cancers diagnosed in screening age women (as defined by the New Zealand National Breast Cancer Screening Programme) between 1999 and 2012 in the Waikato area were identified from the Waikato Breast Cancer Register and the national screening database. Association between screen versus non-screen detection and cancer stage at diagnosis and survival were compared by ethnicity and socioeconomic deprivation. Results: Māori women had 50% higher odds of being diagnosed with more advance staged cancer compared with NZ European women, a half of which was explained by the lower rate of screen detected cancer in Māori women. Significantly lower breast cancer survival rates were observed for Māori compared with NZ European and most deprived compared with most affluent socioeconomic groups for symptomatically detected breast cancer. No significant survival differences by ethnicity or socioeconomic deprivation were observed for screen detected breast cancer. Conclusions: Low rate of screen detected breast cancer appears to be a major contributor for more advanced stage disease at diagnosis and lower breast cancer survival in Māori compared with NZ European women. Increasing screening participation for Māori has the potential to substantially reduce breast cancer mortality inequity between Māori and NZ European women.

Keywords: breast cancer, screening, ethnicity, inequity

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Authors: Antonios Panagopoulos, Stamoulis Georgios

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Dyslexia's diagnosis is made taking into account reading and writing skills and is carried out by qualified scientific staff. In addition, there are screening tests that are designed to give an indication of possible dyslexic difficulties. Their main advantage is that they create a pleasant environment for the user and reduce the stress that can lead to false results. An online application was created for the first time, as far as authors' knowledge, for screening Dyslexia in Greek high school students named «DyScreTe». Thus, a sample of 240 students between 16 and 18 years old in Greece was taken, of which 120 were diagnosed with dyslexia by an official authority in Greece, and 120 were typically developed. The main hypothesis that was examined is that students who were diagnosed with dyslexia by official authorities in Greece had significantly lower performance in the respective software tests. The results verified the hypothesis we made those children with dyslexia in each test had a lower performance com-pared to the type developed in successful responses, except for the intelligence test. After random sampling, it was shown that the new online application was a useful tool for screening dyslexia. However, computer evaluation cannot replace the diagnosis by a professional expert, but with the results of this application, the interdisciplinary team that deals with the differential diagnosis will create and evaluate, at a later time, the appropriate intervention program.

Keywords: dyslexia, screening tests, deficits, application

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Authors: Teresa Isabel Lozano Pérez, Sandra Soca Lozano

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In Cuba, the childcare is one of the programs prioritized by the Ministry of Public Health and the birth of a child becomes a desired and rewarding event for the family, which is prepared for the reception of a healthy child. When this does not happen and after the first months of the child's birth begin to appear developmental deviations that indicate the presence of a disorder, the event becomes a live event potentially negative and generates disruptions in the family health. A quantitative, descriptive, and cross-sectional research methodology was conducted to describe the impact on family health of diagnosis of autism in a sample of 25 families of children diagnosed with infantile autism at the University Pediatric Hospital Juan Manuel Marquez Havana, Cuba; in the period between January 2014 and May 2015. The sample was non probabilistic and intentional from the inclusion criteria selected. As instruments, we used a survey to identify the structure of the family, life events inventory and an instrument to assess the relative impact, adaptive resources of family and social support perceived (IRFA) to identify the diagnosis of autism as life event. The main results indicated that the majority of families studied were nuclear, small and medium and in the formation stage. All households surveyed identified the diagnosis of autism in a child as an event of great importance and negative significance for the family, taking in most of the families studied a high impact on the four areas of family health and impact enhancer of involvement in family health. All the studied families do not have sufficient adaptive resources to face this situation, sensing that they received social support frequently, mainly in information and emotional areas. We conclude that the diagnosis of autism one of the members of the families studied is valued as a life event highly significant with unfavorably way causing an enhancer impact of involvement in family health especially in the areas ‘health’ and ‘socio-psychological’. Among the social support networks health institutions, partners and friends are highlighted. We recommend developing intervention strategies in families of these children to support them in the process of adapting the diagnosis.

Keywords: family, family health, infantile autism, life event

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Authors: Basma Hassabo, Sarah Ahmed, Aisha Hameed

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Aims and Objectives: To determine the incidence of maternal mortality amongst pregnant women with sickle cell disease (SCD) in the United Kingdom and to determine exact cause of death in these women. Background: SCD is caused by the ‘sickle’ gene and is characterized by episodes of severe bone pain and other complications like acute chest syndrome, chronic pulmonary hypertension, stroke, retinopathy, chronic renal failure, hepato-splenic crises, avascular bone necrosis, sepsis and leg ulcers. SCD is a continual cause of maternal mortality and fetal complications, and it comprises 1.5% of all Direct and Indirect deaths in the UK. Sepsis following premature rupture of membranes with ascending infection, post-partum infection and pre-labour overwhelming septic shock is one of its leading causes of death. Over the last fifty years of maternal mortality reports in UK, between 1 to 4 pregnant women died in each triennium. Material and Method: This is a retrospective study that involves pregnant women who died from SCD complications in the UK between 1952-2012. Data were collected from the UK Confidential Enquiries into Maternal Death and its causes between 1952–2012. Prior to 1985, exact cause of death in this cohort was not recorded. Results: 33 deaths reported between 1964 and 1984. 17 deaths were reported due to sickle cell disease between 1985 and 2012. Five women in this group died of sickle cell crisis, one woman had liver sequestration crisis, two women died of venous thromboembolism, two had myocardial fibrosis and three died of sepsis. Remaining women died of amniotic fluid embolism, SUDEP, myocardial ischemia and intracranial haemorrhage. Conclusion: The leading causes of death in sickle cell sick pregnant women are sickle cell crises, sepsis, venous thrombosis and thromboembolism. Prenatal care for women with SCD should be managed by a multidisciplinary team that includes an obstetrician, nutritionist, primary care physician, and haematologist. In every sick Sickle Cell woman Sickle Cell crises should be on the top of the list of differential diagnosis. Aggressive treatment of complications with low threshold to commence broad-spectrum antibiotics and LMWH contribute to better outcomes.

Keywords: incidence, maternal mortality, sickle cell disease (SCD), uk

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Authors: Jay L. Fu

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Patients with Alzheimer's disease progressively lose their memory and thinking skills and, eventually, the ability to carry out simple daily tasks. The disease is irreversible, but early detection and treatment can slow down the disease progression. In this research, publicly available MRI data and demographic data from 373 MRI imaging sessions were utilized to build models to predict dementia. Various machine learning models, including logistic regression, k-nearest neighbor, support vector machine, random forest, and neural network, were developed. Data were divided into training and testing sets, where training sets were used to build the predictive model, and testing sets were used to assess the accuracy of prediction. Key risk factors were identified, and various models were compared to come forward with the best prediction model. Among these models, the random forest model appeared to be the best model with an accuracy of 90.34%. MMSE, nWBV, and gender were the three most important contributing factors to the detection of Alzheimer’s. Among all the models used, the percent in which at least 4 of the 5 models shared the same diagnosis for a testing input was 90.42%. These machine learning models allow early detection of Alzheimer’s with good accuracy, which ultimately leads to early treatment of these patients.

Keywords: Alzheimer's disease, clinical diagnosis, magnetic resonance imaging, machine learning prediction

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Authors: Felicia N. Obialo, Aliza Wingo, Thomas Wingo

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Psychosocial factors such as personality traits and social networks influence cognitive aging and dementia outcomes both positively and negatively. The inherent complexity of these factors makes defining the underlying mechanisms of their influence difficult; however, exploring their interactions affords promise in the field of cognitive aging. The objective of this study was to elucidate some of these interactions by determining the relationship between social network size and dementia outcomes and by determining whether personality traits mediate this relationship. The longitudinal Alzheimer’s Disease (AD) database provided by Rush University’s Religious Orders Study/Memory and Aging Project was utilized to perform retrospective regression and mediation analyses on 3,591 participants. Participants who were cognitively impaired at baseline were excluded, and analyses were adjusted for age, sex, common chronic diseases, and vascular risk factors. Dementia outcome measures included cognitive trajectory, clinical dementia diagnosis, and postmortem beta-amyloid plaque (AB), and neurofibrillary tangle (NT) accumulation. Personality traits included agreeableness (A), conscientiousness (C), extraversion (E), neuroticism (N), and openness (O). The results show a positive correlation between social network size and cognitive trajectory (p-value = 0.004) and a negative relationship between social network size and odds of dementia diagnosis (p = 0.024/ Odds Ratio (OR) = 0.974). Only neuroticism mediates the positive relationship between social network size and cognitive trajectory (p < 2e-16). Agreeableness, extraversion, and neuroticism all mediate the negative relationship between social network size and dementia diagnosis (p=0.098, p=0.054, and p < 2e-16, respectively). All personality traits are independently associated with dementia diagnosis (A: p = 0.016/ OR = 0.959; C: p = 0.000007/ OR = 0.945; E: p = 0.028/ OR = 0.961; N: p = 0.000019/ OR = 1.036; O: p = 0.027/ OR = 0.972). Only conscientiousness and neuroticism are associated with postmortem AD pathologies; specifically, conscientiousness is negatively associated (AB: p = 0.001, NT: p = 0.025) and neuroticism is positively associated with pathologies (AB: p = 0.002, NT: p = 0.002). These results support the study’s objectives, demonstrating that social network size and personality traits are strongly associated with dementia outcomes, particularly the odds of receiving a clinical diagnosis of dementia. Personality traits interact significantly and beneficially with social network size to influence the cognitive trajectory and future dementia diagnosis. These results reinforce previous literature linking social network size to dementia risk and provide novel insight into the differential roles of individual personality traits in cognitive protection.

Keywords: Alzheimer’s disease, cognitive trajectory, personality traits, social network size

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Authors: Sultan Çağırıcı, Arsida Bajrami, Beyza Aslan, Hacı Ali Erdoğan, Nejla Sözer Topçular, Dilek Bozkurt, Vildan Yayla

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Objective: Corticobasal syndrome (CBS) is phenotypically characterized by asymmetric rigidity, apraxia, alien-limb phenomenon, cortical sensory loss, dystonia and myoclonus. The underlying pathologies consists of corticobasal degeneration (CBD), progressive supra nuclear palsy, Alzheimer's, Creutzfeldt-Jakob and frontotemporal degeneration. CBD is a degenerative disease with clinical symptoms related to the prominent involvement of cerebral cortex and basal ganglia. CBD is a pathological diagnosis and antemortem clinical diagnosis may change many times. In this paper, we described the clinical features and discussed a cases diagnosed with symmetric CBS because of its rarity. Case: Seventy-five-year-old woman presented with a three years history of difficulty in speaking and reading. Involuntary hand jerks and slowness of movement also had began in the last six months. In the neurological examination the patient was alert but not fully oriented. The speech was non-fluent, word finding difficulties were present. Bilateral limited upgaze, bradimimia, bilateral positive cogwheel' rigidity but prominent in the right side, postural tremor and negative myoclonus during action on the left side were detected. Receptive language was normal but expressive language and repetition were impaired. Acalculia, alexia, agraphia and apraxia were also present. CSF findings were unremarkable except for elevated protein level (75 mg/dL). MRI revealed bilateral symmetric cortical atrophy prominent in the frontoparietal region. PET showed hypometabolism in the left caudate nucleus. Conclusion: The increase of data related to neurodegenerative disorders associated with dementia, movement disorders and other findings results in an expanded range of diagnosis and transitions between clinical diagnosis. When considered the age of onset, clinical symptoms, imaging findings and prognosis of this patient, clinical diagnosis was CBS and pathologic diagnosis as probable CBD. Imaging of CBD usually consist of typical asymmetry between hemispheres. Still few cases with clinical appearance of CBD may show symmetrical cortical cerebral atrophy. It is presented this case who was diagnosed with CBD although we found symmetrical cortical cerebral atrophy in MRI.

Keywords: symmetric cortical atrophy, corticobasal degeneration, corticobasal syndrome

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Authors: Ghazanfar Ali, Fahad N Almajhdi

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This study provides data on the viral diagnosis and molecular epidemiology of influenza A(H3N2) virus isolated in Riyadh, Saudi Arabia. Nasopharyngeal aspirates from 80 clinically infected patients in the peak of the 2010-2011 winter seasons were processed for viral diagnosis by RT-PCR. Sequencing of entire HA and NA genes of representative isolates and molecular epidemiological analysis were performed. A total of 06 patients were positive for influenza A, B and respiratory syncytial viruses by RT-PCR assays; out of these only one sample was positive for influenza A(H3N2) by RT-PCR. Phylogenetic analysis of the HA and NA gene sequences showed identities higher than 99-98.8 % in both genes. They were also similar to reference isolates in HA sequences (99 % identity) and in NA sequences (99 % identity). Amino acid sequences predicted for the HA gene were highly identical to reference strains. The NA amino acid substitutions identified did not include the oseltamivir-resistant H275Y substitution. Conclusion: Viral isolation and RT-PCR together were useful for diagnosis of the influenza A (H3N2) virus. Variations in HA and NA sequences are similar to those identified in worldwide reference isolates and no drug resistance was found.

Keywords: influenza A (H3N2), genetic characterization, viral isolation, RT-PCR, Saudi Arabia

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Authors: Mohamed Mahmoud

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This paper has developed an effect-cause analysis technique for fault diagnosis in digital circuits. The main algorithm of our technique is based on the Enhanced Deduction Algorithm, which processes the real response of the CUT to the applied test T to deduce the values of the internal lines. An experimental version of the algorithm has been implemented in C++. The code takes about 7592 lines. The internal values are determined based on the logic values under the permanent stuck-fault model. Using a backtracking strategy guarantees that the actual values are covered by at least one solution, or no solution is found.

Keywords: enhanced deduction algorithm, backtracking strategy, automatic test equipment, verfication

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Authors: Cuneyt Yucelbas, Seral Ozsen, Sule Yucelbas, Gulay Tezel

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Due to the fact that there exist only a small number of complex systems in artificial immune system (AIS) that work out nonlinear problems, nonlinear AIS approaches, among the well-known solution techniques, need to be developed. Gaussian function is usually used as similarity estimation in classification problems and pattern recognition. In this study, diagnosis of breast cancer, the second type of the most widespread cancer in women, was performed with different distance calculation functions that euclidean, gaussian and gaussian-euclidean hybrid function in the clonal selection model of classical AIS on Wisconsin Breast Cancer Dataset (WBCD), which was taken from the University of California, Irvine Machine-Learning Repository. We used 3-fold cross validation method to train and test the dataset. According to the results, the maximum test classification accuracy was reported as 97.35% by using of gaussian-euclidean hybrid function for fold-3. Also, mean of test classification accuracies for all of functions were obtained as 94.78%, 94.45% and 95.31% with use of euclidean, gaussian and gaussian-euclidean, respectively. With these results, gaussian-euclidean hybrid function seems to be a potential distance calculation method, and it may be considered as an alternative distance calculation method for hard nonlinear classification problems.

Keywords: artificial immune system, breast cancer diagnosis, Euclidean function, Gaussian function

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Authors: Tianle Yang

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As a common mental disorder, depression is a leading cause of various diseases worldwide. Early detection and treatment of depression can dramatically promote remission and prevent relapse. However, conventional ways of depression diagnosis require considerable human effort and cause economic burden, while still being prone to misdiagnosis. On the other hand, recent studies report that physical characteristics are major contributors to the diagnosis of depression, which inspires us to mine the internal relationship by neural networks instead of relying on clinical experiences. In this paper, neural networks are constructed to predict depression from physical characteristics. Two initialization methods are examined - Xaiver and Kaiming initialization. Experimental results show that a 3-layers neural network with Kaiming initialization achieves 83% accuracy.

Keywords: depression, neural network, Xavier initialization, Kaiming initialization

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Authors: Yaser Meeralam, Walaa Alharthi, Hadeel Ashi, Alaa Bakhsh, Kholood Aljabri, Ebtihal Bin Salim

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Background:Basidiobolusranrum causes one of the rare fungal diseases that infects mainly immunocompetent individuals. Gastrointestinal Basidiobolomycosis (GIB) is a rare and uncommon form of this fungal infection. It’s still ambiguous how this fungus is reaching the gastrointestinal tract leading to Gastrointestinal Basidiobolomycosis. Objective: To summarize the clinical features, imaging, and histopathological of patients diagnosed with GIB in our institution. Patients and methods: A series of five cases of patients who diagnosed by basidiobolomycosis in King Abdullah Medical City, Makkah, Saudi Arabia, which reviewed by latest literature related to diagnosis and treatment. Results: Most of the patients were externally evaluated and were initially misdiagnosed. Some of them were suspected of colonic malignancy, other presumed to have hepatic hemangioma and fistulizing crohn’s disease. The definitive diagnosis is often based on histopathological examination and fungal culture of the surgically resected mass. An optimum standardized treatment of basidiobolomycosis has not yet been established. Conclusion: Deeper knowledge of clinical characteristics, diagnosis, and treatment of basidiobolomycosis will allow early initiating of treatment with a subsequent positive impact on the patients’ outcome. More studies are needed to establish a definite treatment.

Keywords: gastrointestinal infection, crohn's mimics, malignancy mimics, fungal infection

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Authors: Yaya Gao, Jifeng Liu, Yafeng Liu

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Objectives: This study aimed to improve clinicians' understanding and diagnosis of the Mammary analogue secretory carcinoma of the salivary gland（MASC）. Methods: The clinical features of a MASC patient who was admitted to WestChina Hospital of Sichuan University in July 2020 were reviewed and analyzed. A 49-year-old woman with left upper neck pain for three months was admitted to the hospital. She underwent adenoma resection of the left submandibular gland 14 years ago and mucoepidermoid carcinoma resection surgery five years ago. Three months before admission, the patient developed pain in the left mandibular angle after "fatigue" and gradually developed radiation pain in the left ear, which could be relieved after rest. A mass of 1cm could be touched at the mandibular, with tenderness, poor mobility, and hard texture. No swelling, heat, pain, rupture, or pus was found on the surrounding skin. Color doppler ultrasonography of the salivary gland indicated a weak echo mass of 23*14*17mm in the left parotid gland. Results: Surgical excision was completed. Immunohistochemistry of the tumor samples after operation showed that P63（a few，+）, CK7（+）, S100（+）, DOG1（-）, Ki67（MIB-1）（+，5%），pan-TRK（+）, PAS(+) . ETV-6 gene translocation was detected in FISH in postoperative pathology, which indicated MASC. After this diagnosis, the patient sent the postoperative specimen of the second submandibular tumor to our hospital for consultation. The morphology of the two was similar. FISH detected ETV-6 gene translocation, so the second pathological diagnosis was revised to MASC. Conclusion: MASC of the salivary gland is a rare salivary gland tumor whose diagnosis depends on the result of the ETV6-NTRK3 fusion gene.

Keywords: mammary analogue secretory carcinoma, ETV6-NTRK3, salivary gland, misdiagnosed

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Authors: Muhammad Fiaz Qamar, Uzma Mehreen, Muhammad Arfan Zaman, Kazim Ali

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Ovine Theileriosis is a world-wide concern, especially in tropical and subtropical areas, due to having tick abundance that has received less awareness in different developed and developing areas due to less worth of sheep, low to the middle level of infection in different small ruminants herd. Across Asia, the prevalence reports have been conducted to provide equivalent calculation of flock and animal level prevalence of Theileriosisin animals. It is a challenge for veterinarians to timely diagnosis & control of Theileriosis and famers because of the nature of the organism and inadequacy of restricted plans to control. All most work is based upon the development of such a technique which should be farmer-friendly, less expensive, and easy to perform into the field. By the timely diagnosis of this disease will decrease the irrational use of the drugs, and other plan was to determine the prevalence of Theileriosis in District Jhang by using the conventional method, PCR and qPCR, and LAMP. We quantify the molecular epidemiology of T.lestoquardiin sheep from Jhang districts, Punjab, Pakistan. In this study, we concluded that the overall prevalence of Theileriosis was (32/350*100= 9.1%) in sheep by using Giemsa staining technique, whereas (48/350*100= 13%) is observed by using PCR technique (56/350*100=16%) in qPCR and the LAMP technique have shown up to this much prevalence percentage (60/350*100= 17.1%). The specificity and sensitivity also calculated in comparison with the PCR and LAMP technique. Means more positive results have been shown when the diagnosis has been done with the help of LAMP. And there is little bit of difference between the positive results of PCR and qPCR, and the least positive animals was by using Giemsa staining technique/conventional method. If we talk about the specificity and sensitivity of the LAMP as compared to PCR, The cross tabulation shows that the results of sensitivity of LAMP counted was 94.4%, and specificity of LAMP counted was 78%. Advances in scientific field must be upon reality based ideas which can lessen the gaps and hurdles in the way of scientific research; the lamp is one of such techniques which have done wonders in adding value and helping human at large. It is such a great biological diagnostic tools and has helped a lot in the proper diagnosis and treatment of certain diseases. Other methods for diagnosis, such as culture techniques and serological techniques, have exposed humans with great danger. However, with the help of molecular diagnostic technique like LAMP, exposure to such pathogens is being avoided in the current era Most prompt and tentative diagnosis can be made using LAMP. Other techniques like PCR has many disadvantages when compared to LAMP as PCR is a relatively expensive, time consuming, and very complicated procedure while LAMP is relatively cheap, easy to perform, less time consuming, and more accurate. LAMP technique has removed hurdles in the way of scientific research and molecular diagnostics, making it approachable to poor and developing countries.

Keywords: distribution, thelaria, LAMP, primer sequences, PCR

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Authors: Chen-Chang Lee, Po-Chou Chen, Jo-Chi Jao, Chun-Chung Lui, Leung-Chit Tsang, Lain-Chyr Hwang

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Fetal Magnetic Resonance Imaging (MRI) is a challenge task because the fetal movements could cause motion artifact in MR images. The remedy to overcome this problem is to use fast scanning pulse sequences. The Single-Shot Fast Spin-Echo (SSFSE) T2-weighted imaging technique is routinely performed and often used as a gold standard in clinical examinations. Fast spoiled gradient-echo (FSPGR) T1-Weighted Imaging (T1WI) is often used to identify fat, calcification and hemorrhage. Fast Imaging Employing Steady-State Acquisition (FIESTA) is commonly used to identify fetal structures as well as the heart and vessels. The contrast of FIESTA image is related to T1/T2 and is different from that of SSFSE. The advantages and disadvantages of these two scanning sequences for fetal imaging have not been clearly demonstrated yet. This study aimed to compare these three rapid MRI techniques (SSFSE, FIESTA, and FSPGR) for fetal MRI examinations. The image qualities and influencing factors among these three techniques were explored. A 1.5T GE Discovery 450 clinical MR scanner with an eight-channel high-resolution abdominal coil was used in this study. Twenty-five pregnant women were recruited to enroll fetal MRI examination with SSFSE, FIESTA and FSPGR scanning. Multi-oriented and multi-slice images were acquired. Afterwards, MR images were interpreted and scored by two senior radiologists. The results showed that both SSFSE and T2W-FIESTA can provide good image quality among these three rapid imaging techniques. Vessel signals on FIESTA images are higher than those on SSFSE images. The Specific Absorption Rate (SAR) of FIESTA is lower than that of the others two techniques, but it is prone to cause banding artifacts. FSPGR-T1WI renders lower Signal-to-Noise Ratio (SNR) because it severely suffers from the impact of maternal and fetal movements. The scan times for these three scanning sequences were 25 sec (T2W-SSFSE), 20 sec (FIESTA) and 18 sec (FSPGR). In conclusion, all these three rapid MR scanning sequences can produce high contrast and high spatial resolution images. The scan time can be shortened by incorporating parallel imaging techniques so that the motion artifacts caused by fetal movements can be reduced. Having good understanding of the characteristics of these three rapid MRI techniques is helpful for technologists to obtain reproducible fetal anatomy images with high quality for prenatal diagnosis.

Keywords: fetal MRI, FIESTA, FSPGR, motion artifact, SSFSE

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Authors: Rachel Shukrun, Szilvia Baron, Victoria Fidel, Anna Shusterman, Osnat Sher, Netanya Kollender, Dror Levin, Yair Peled, Yair Gortzak, Yoav Ben-Shahar, Revital Caspi, Sagi Gordon, Michal Manisterski, Ronit Elhasid

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Ewing sarcoma (EWS) is a highly aggressive cancer with a survival rate of 70–80% for patients with localized disease and under 30% for those with metastatic disease. Tumor-infiltrating neutrophils (TIN) can generate extracellular net-like DNA structures known as neutrophil extracellular traps (NETs). However, little is known about the presence and prognostic significance of tumor-infiltrating NETs in EWS. Herein, we investigated 46 patients diagnosed with EWS and treated in the Tel Aviv Medical Center between 2010 and 2021. TINs and NETs were identified in diagnostic biopsies of EWS by immunofluorescent. In addition, NETs were investigated in neutrophils isolated from peripheral blood samples of EWS patients at diagnosis and following neoadjuvant chemotherapy. The relationships between the presence of TINs and NETs, pathological and clinical features, and outcomes were analyzed. Our results demonstrate that TIN and NETs at diagnosis were higher in EWS patients with metastatic disease compared to those with local disease. High NETs formation at diagnosis predicted poor response to neo-adjuvant chemotherapy, relapse, and death from disease (P < .05). NETs formation in peripheral blood samples at diagnosis was significantly elevated among patients with EWS compared to pediatric controls and decreased significantly following neoadjuvant chemotherapy. In conclusion, NETs formation seems to have a role in the EWS immune microenvironment. Their presence can refine risk stratification, predict chemotherapy resistance and survival, and serve as a therapeutic target in patients with EWS.

Keywords: Ewing sarcoma, tumor microenvironment, neutrophil, neutrophil extracellular traps (NETs), prognosis

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Authors: Anukriti Verma, Bhawna Rathi, Shivani Sharda

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Reactive Arthritis (ReA) is a disorder that causes inflammation in joints due to certain infections at distant sites in the body. ReA begins with stiffness, pain, and inflammation in these areas especially the ankles, knees, and hips. It gradually causes several complications such as conjunctivitis in the eyes, skin lesions in hand, feet and nails and ulcers in the mouth. Nowadays the diagnosis of ReA is based upon a differential diagnosis pattern. The parameters for differentiating ReA from other similar disorders include physical examination, history of the patient and a high index of suspicion. There are no standard lab tests or markers available for ReA hence the early diagnosis of ReA becomes difficult and the chronicity of disease increases with time. It is reported that enteric disorders such as Inflammatory Bowel Disease (IBD) that is inflammation in gastrointestinal tract namely Crohn’s Disease (CD) and Ulcerative Colitis (UC) are reported to be linked with ReA. Several microorganisms are found such as Campylobacter, Salmonella, Shigella and Yersinia causing IBD leading to ReA. The aim of our study was to perform the in-silico analysis in order to find interactions between microorganisms and human host causing IBD leading to ReA. A systems biology approach for metabolic network reconstruction and simulation was used to find the essential genes of the reported microorganisms. Interactomics study was used to find the interactions between the pathogen genes and human host. Genes such as nhaA (pathogen), dpyD (human), nagK (human) and kynU (human) were obtained that were analysed further using the functional, pathway and network analysis. These genes can be used as putative drug targets and biomarkers in future for early diagnosis, prevention, and treatment of IBD leading to ReA.

Keywords: drug targets, inflammatory bowel disease, reactive arthritis, systems biology

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Authors: Kemka C. Ihemelandu, Chukwuemeka U. Ihemelandu

Abstract:

The incidence of melanoma has been increasing rapidly over the past two decades, making melanoma a current public health crisis. Unfortunately, even as screening efforts continue to expand in an effort to ameliorate the death rate from melanoma, there is a need to improve diagnostic accuracy to decrease misdiagnosis. Artificial intelligence (AI) a new frontier in patient care has the ability to improve the accuracy of melanoma diagnosis. Convolutional neural network (CNN) a form of deep neural network, most commonly applied to analyze visual imagery, has been shown to outperform the human brain in pattern recognition. However, there are noted limitations with the accuracy of the CNN models. Our aim in this study was the optimization of convolutional neural network algorithms for the automated diagnosis of melanoma. We hypothesized that Optimal selection of the momentum and batch hyperparameter increases model accuracy. Our most successful model developed during this study, showed that optimal selection of momentum of 0.25, batch size of 2, led to a superior performance and a faster model training time, with an accuracy of ~ 83% after nine hours of training. We did notice a lack of diversity in the dataset used, with a noted class imbalance favoring lighter vs. darker skin tone. Training set image transformations did not result in a superior model performance in our study.

Keywords: melanoma, convolutional neural network, momentum, batch hyperparameter

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Authors: Wafa Al Jabri

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Background: In Middle Eastern Islamic Countries (MEICs), there is a high prevalence of genetic blood disorders (GBDs), particularly sickle cell disease and thalassemia. The GBDs are considered a major public health concern, especially with the increase in affected populations along with the associated psychological, social, and financial cost of management. Despite the availability of premarital screening services (PSS) that aim to identify the asymptomatic carriers of GBDs and provide genetic counseling to couples in order toreduce the prevalence of these diseases; yet, the success rate of PSS is very low due to religious and socio-cultural concerns. Purpose: This paper aims to highlight the factors that affect the success of PSS in MEICs. Methods: A literature review of articles located in CINAHL, PubMed, SCOPUS, and MedLinewas carried out using the following terms: “premarital screening,” “success,” “effectiveness,” and “ genetic blood disorders.” Second, a hand search of the reference lists and Google searches were conducted to find studies that did not exist in the primary database searches. Only studies which are conducted in MEICs countries and published in the last five years were included. Studies that were not published in English were excluded. Results: Fourteen articles were included in the review. The results showed that PSS in most of the MEICs was successful in achieving its objective of identifying high-risk marriages; however, the service failed to meetitsultimate goal of reducing the prevalence of GBDs. Various factors seem to hinder the success of PSS, including poor public awareness, late timing of the screening, culture and social stigma, religious beliefs, availability of prenatal diagnosis and therapeutic abortion, emotional factors, and availability of genetic counseling services. However, poor public awareness, late timing of the screening, and unavailability of adequate counseling services were the most common barriers identified. Conclusion: Overcoming the identified barriers by providing effective health education programs, offering the screening test to young adults at an earlier stage, and tailoring the genetic counseling would be crucial steps to provide a framework for an effective PSS in MEICs.

Keywords: premarital screening, success, effectiveness, and genetic blood disorders

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Authors: Sadia Munir

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Preeclampsia is the contributor to the worldwide maternal mortality of approximately 100,000 deaths a year. It complicates about 10% of all pregnancies and is the first cause of maternal admission to intensive care units. Predicting preeclampsia is a major challenge in obstetrics. More importantly, no major progress has been achieved in the treatment of preeclampsia. As placenta is the main cause of the disease, the only way to treat the disease is to extract placental and deliver the baby. In developed countries, the cost of an average case of preeclampsia is estimated at £9000. Interestingly, preeclampsia may have an impact on the health of mother or infant, beyond the pregnancy. We performed a systematic search of PubMed including the combination of terms such as preeclampsia, biomarkers, treatment, hypoxia, inflammation, oxidative stress, vascular endothelial growth factor A, activin A, inhibin A, placental growth factor, transforming growth factor β-1, Nodal, placenta, trophoblast cells, microRNAs. In this review, we have summarized current knowledge on the identification of potential biomarkers for the diagnosis of preeclampsia. Although these studies show promising data in early diagnosis of preeclampsia, the current value of these factors as biomarkers, for the precise prediction of preeclampsia, has its limitation. Therefore, future studies need to be done to support some of the very promising and interesting data to develop affordable and widely available tests for early detection and treatment of preeclampsia.

Keywords: activin, biomarkers, growth factors, miroRNA

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Authors: Chinelo Igwenagu

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Teenage childbearing in developing countries has been a thing of great concern as it has often led to a number of socioeconomic problems both to the society and to the families affected. The outcome of teenage pregnancy has been generally associated with higher rates of maternal morbidity and mortality, greater risks for delivery complications, low-birth weight infants and child mortality. As a result of teenagers’ physiological and social immaturity and their lack of adequate prenatal care, health risks associated with their pregnancies and childbearing are more pronounced than those of older women. Therefore this study has examined the relationship between the age of teenagers and the outcome of teenage pregnancy. Based on this study, the result of the analysis shows that both teenagers and older mothers suffer similarly during child bearing. Hence improve medical care is paramount in all the situations.

Keywords: childbearing, mortality, Nigeria, pregnancy, prematurity, teenagers

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Authors: Duc V. Nguyen

Abstract:

Induction motors are widely used in different industry areas and can experience various kinds of faults in stators and rotors. In general, fault detection and diagnosis techniques for induction motors can be supervised by measuring quantities such as noise, vibration, and temperature. The installation of mechanical sensors in order to assess the health conditions of a machine is typically only done for expensive or load-critical machines, where the high cost of a continuous monitoring system can be Justified. Nevertheless, induced current monitoring can be implemented inexpensively on machines with arbitrary sizes by using current transformers. In this regard, effective and low-cost fault detection techniques can be implemented, hence reducing the maintenance and downtime costs of motors. This work proposes a method for fault detection and diagnosis of induction motors, which combines classical fast Fourier transform and modern/advanced machine learning techniques. The proposed method is validated on real-world data and achieves a precision of 99.7% for fault detection and 100% for fault classification with minimal expert knowledge requirement. In addition, this approach allows users to be able to optimize/balance risks and maintenance costs to achieve the highest benet based on their requirements. These are the key requirements of a robust prognostics and health management system.

Keywords: fault detection, FFT, induction motor, predictive maintenance

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Authors: Jakub Młoźniak, Adam Szymański, Gabriela Stondzik, Dagny Krankowska, Tomasz Mikuła

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Nontuberculous mycobacteria (NTM) are bacterial species that cause diversely manifesting diseases mainly in immunocompromised patients. In people with HIV, NTM infection is an AIDS-defining disease and usually appears when the lymphocyte T CD4 count is below 50 cells/μl. The usage of antiretroviral therapy has decreased the prevalence of NTM among people with HIV, but the disease can still be observed especially among patients with late HIV diagnosis. Common presence in environment, human colonization, clinical similarity with tuberculosis and slow growth on culture makes NTM especially hard to diagnose. The study aimed to analyze the epidemiology and clinical course of NTM among patients with HIV. This study included patients with NTM and HIV admitted to our department between 2017 and 2023. Medical records of patients were analyzed and data on age, sex, median time from HIV diagnosis to identification of NTM infection, median CD4 count at NTM diagnosis, methods of determining NTM infection, type of species of mycobacteria identified, clinical symptoms and treatment course were gathered. Twenty-four patients (20 men, 4 women) with identified NTM were included in this study. Among them, 20 were HIV late presenters. The patients' median age was 40. The main symptoms which patients presented were fever, weight loss and cough. Pulmonary disease confirmed with positive cultures from sputum/bronchoalveolar lavage was present in 18 patients. M. avium was the most common species identified. M. marinum caused disseminated skin lesions in 1 patient. Out of all, 5 people were not treated for NTM caused by lack of symptoms and suspicion of colonization with mycobacterium. Concomitant tuberculosis was present in 6 patients. The median diagnostic time from HIV to NTM infections was 3.5 months. The median CD4 count at NTM identification was 69.5 cells/μl. Median NTM treatment time was 16 months but 7 patients haven’t finished their treatment yet. The most commonly used medications were ethambutol and clarithromycin. Among analyzed patients, 4 of them have died. NTM infections are still an important disease among patients who are HIV late presenters. This disease should be taken into consideration during the differential diagnosis of fever, weight loss and cough in people with HIV with lymphocyte T CD4 count <100 cells/μl. Presence of tuberculosis does not exclude nontuberculous mycobacterium coinfection.

Keywords: mycobacteriosis, HIV, late presenter, epidemiology

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Authors: S. Zolghadri, M. Naderi, H. Yousefnia, B. Alirzapour, A. R. Jalilian, A. Ramazani

Abstract:

Nowadays, 68Ga-DOTATOC has been known as a potential agent for the detection of neuroendocrine tumours and it has indicated higher sensitivity compared with the 111In-Octeroetide. The aim of this study was to evaluate the effectiveness of this new agent in the diagnosis of adenocarcinoma breast cancer. 68Ga-DOTATOC was prepared with the radiochemical purity of higher than 98% and by the specific activity of 39.6 TBq/mmol. 37 MBq of the complex was injected intravenously into the BULB/c mice with adenocarcinoma breast cancer. PET/CT images were acquired after 30, 60 and 90 min post injection demonstrated significant accumulation in the tumour sites. Also, considerable activity was observed in the kidney and bladder as the main routs of excretion. Generally, the results showed that 68Ga-DOTATOC can be considered as a suitable complex for diagnosis of the adenocarcinoma breast cancer using PET procedure.

Keywords: adenocarcinoma breast cancer, 68Ga, octreotide, imaging

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