RARE DISEASES CONFERENCE

Previously Published Papers on "Rare Diseases Conference"

• Comparison between Different Classifications of Periodontal Diseases and Their Advantages

  Authors: Ilma Robo, Saimir Heta, Merilda Tarja, Sonila Kapaj, Eduart Kapaj, Geriona Lasku, Keywords: Periodontal diseases, clinical application, periodontal treatment, oral diagnosis. DOI:10.5281/zenodo. Abstract: The classification of periodontal diseases has changed significantly in favor of simplifying the protocol of diagnosis and periodontal treatment. This review study aims to highlight the latest publications in the new periodontal disease classification, talking about the most significant differences versus the old classification with the tendency to express the advantages or disadvantages of clinical application. The aim of the study also includes the growing tendency to link the way of classification of periodontal diseases with predetermined protocols of periodontal treatment of the diagnoses included in the classification. The new classification of periodontal diseases is rather comprehensive in its subdivisions, as the disease is viewed in its entirety, with the biological dimensions of the disease, the degree of aggravation and progression of the disease, in relation to risk factors, predisposition to patient susceptibility and impact of periodontal disease to the general health status of the patient.

• The Evaluation of New Generation Cardiovascular Risk Markers in Childhood Obesity

  Authors: Mustafa M. Donma, Sule G. Kacmaz, Ahsen Yilmaz, Savas Guzel, Orkide Donma, Keywords: biomarker, cardiovascular diseases, children, obesity DOI:10.5281/zenodo. Abstract: Obesity, as excessive fat accumulation in the body, is a global health problem. The prevalence of obesity and its complications increase due to easy access to high-energy food and decreased physical activity. Cardiovascular diseases (CVDs) constitute a significant part of obesity-related morbidity and mortality. Since the effects of obesity on cardiovascular system may start during childhood without clinical findings, elucidating the mechanisms of cardiovascular changes associated with childhood obesity became more important. In this study, we aimed to investigate some biochemical parameters which may be involved in obesity-related pathologic processes of CVDs. One hundred and seventy-seven children were included in the study, and they were divided into four groups based upon WHO criteria and presence of the metabolic syndrome (MetS): children with normal-BMI, obesity, morbid obesity, and MetS. High-sensitive cardiac troponin T (hs-cTnT), cardiac myosin binding protein C (cMyBP-C), trimethylamine N-oxide (TMAO), soluble tumor necrosis factor-like weak inducer (sTWEAK), chromogranin A (CgA), multimerin-2 levels, and other biochemical parameters were measured in serum samples. Anthropometric measurements and clinical findings of the children were recorded. Statistical analyses were performed. Children with normal-BMI had significantly higher CgA levels than children with obesity, morbid obesity, and MetS (p < 0.05). Cardiac MyBP-C levels of children with MetS were significantly higher than of children with normal-BMI and OB children (p < 0.05). There was no significant difference in hs-cTnT, sTWEAK, TMAO and multimerin-2 between the groups (p>0.05). These results suggested that cMyBP-C and CgA molecules may be involved in the pathogenesis of obesity-related CVDs.

• Spexin and Fetuin A in Morbid Obese Children

  Authors: Mustafa M. Donma, Orkide Donma, Keywords: Cardiovascular diseases, eosinophils, fetuin A, pediatric morbid obesity, platelets, spexin. DOI:10.5281/zenodo. Abstract: Spexin, expressed in the central nervous system, has attracted much interest in feeding behavior, obesity, diabetes, energy metabolism and cardiovascular functions. Fetuin A is known as the negative acute phase reactant synthesized in the liver. Eosinophils are early indicators of cardiometabolic complications. Patients with elevated platelet count, associated with hypercoagulable state in the body, are also more liable to cardiovascular diseases (CVDs). In this study, the aim is to examine the profiles of spexin and fetuin A concomitant with the course of variations detected in eosinophil as well as platelet counts in morbid obese children. 34 children with normal-body mass index (N-BMI) and 51 morbid obese (MO) children participated in the study. Written-informed consent forms were obtained prior to the study. Institutional ethics committee approved the study protocol. Age- and sex-adjusted BMI percentile tables prepared by World Health Organization were used to classify healthy and obese children. Mean age ± SEM of the children were 9.3 ± 0.6 years and 10.7 ± 0.5 years in N-BMI and MO groups, respectively. Anthropometric measurements of the children were taken. BMI values were calculated from weight and height values. Blood samples were obtained after an overnight fasting. Routine hematologic and biochemical tests were performed. Within this context, fasting blood glucose (FBG), insulin (INS), triglycerides (TRG), high density lipoprotein-cholesterol (HDL-C) concentrations were measured. Homeostatic model assessment for insulin resistance (HOMA-IR) values were calculated. Spexin and fetuin A levels were determined by enzyme-linked immunosorbent assay. Data were evaluated from the statistical point of view. Statistically significant differences were found between groups in terms of BMI, fat mass index, INS, HOMA-IR and HDL-C. In MO group, all parameters increased as HDL-C decreased. Elevated concentrations in MO group were detected in eosinophils (p < 0.05) and platelets (p > 0.05). Fetuin A levels decreased in MO group (p > 0.05). However, decrease was statistically significant in spexin levels for this group (p < 0.05). In conclusion, these results have suggested that increases in eosinophils and platelets exhibit behavior as cardiovascular risk factors. Decreased fetuin A behaved as a risk factor suitable to increased risk for cardiovascular problems associated with the severity of obesity. Along with increased eosinophils, increased platelets and decreased fetuin A, decreased spexin was the parameter, which reflects best its possible participation in the early development of CVD risk in MO children.

• Attention Based Fully Convolutional Neural Network for Simultaneous Detection and Segmentation of Optic Disc in Retinal Fundus Images

  Authors: Sandip Sadhukhan, Arpita Sarkar, Debprasad Sinha, Goutam Kumar Ghorai, Gautam Sarkar, Ashis K. Dhara, Keywords: Ocular diseases, retinal fundus image, optic disc detection and segmentation, fully convolutional network, overlap measure. DOI:10.5281/zenodo. Abstract: Accurate segmentation of the optic disc is very important for computer-aided diagnosis of several ocular diseases such as glaucoma, diabetic retinopathy, and hypertensive retinopathy. The paper presents an accurate and fast optic disc detection and segmentation method using an attention based fully convolutional network. The network is trained from scratch using the fundus images of extended MESSIDOR database and the trained model is used for segmentation of optic disc. The false positives are removed based on morphological operation and shape features. The result is evaluated using three-fold cross-validation on six public fundus image databases such as DIARETDB0, DIARETDB1, DRIVE, AV-INSPIRE, CHASE DB1 and MESSIDOR. The attention based fully convolutional network is robust and effective for detection and segmentation of optic disc in the images affected by diabetic retinopathy and it outperforms existing techniques.

• Low Cost Microcontroller Based ECG Machine

  Authors: Muhibul H. Bhuyan, Md. T. Hasan, Hasan Iskander, Keywords: Low cost ECG machine, heart diseases, remote monitoring, Arduino microcontroller. DOI:10.5281/zenodo. Abstract: Electrocardiographic (ECG) machine is an important equipment to diagnose heart problems. Besides, the ECG signals are used to detect many other features of human body and behavior. But it is not so cheap and simple in operation to be used in the countries like Bangladesh, where most of the people are very low income earners. Therefore, in this paper, we have tried to implement a simple and portable ECG machine. Since Arduino Uno microcontroller is very cheap, we have used it in our system to minimize the cost. Our designed system is powered by a 2-voltage level DC power supply. It provides wireless connectivity to have ECG data either in smartphone having android operating system or a PC/laptop having Windows operating system. To get the data, a graphic user interface has been designed. Android application has also been made using IDE for Android 2.3 and API 10. Since it requires no USB host API, almost 98% Android smartphones, available in the country, will be able to use it. We have calculated the heart rate from the measured ECG by our designed machine and by an ECG machine of a reputed diagnostic center in Dhaka city for the same people at the same time on same day. Then we calculated the percentage of errors between the readings of two machines and computed its average. From this computation, we have found out that the average percentage of error is within an acceptable limit.

• Relationship between the Use of Hormonal Contraceptives and the Promotion of Changes in Hemodynamic Factors that Predispose to Cardiovascular Risk

  Authors: Camila Cássia Canzi, Camila Lima, Lucas Pereira, Jussana Araújo, Manoella Porto Castro, Silvio Terra Stefanello, Leandro Dobrachinski, Keywords: fibrinogen, cardiovascular diseases, hormonal contraceptives, woman DOI:10.5281/zenodo.3872293 Abstract: The use of hormonal contraceptive drugs is widely used in different age groups, mainly due to easy acquisition and due to a large number of prescriptions. Besides, several studies point to the high cardiovascular risk concerning the use of hormonal contraceptives. In this study, we evaluated 620 Brazilian women to demonstrate the correlation between the hormonal contraceptives uses with the increase of the predisposition of risk for cardiovascular diseases. Our data demonstrated that concomitant use of contraceptives showed a significant reduction activated partial thromboplastin time and prothrombin time similar to hypercoagulability clinical conditions. Besides, as a compensation mechanism, there was an increase in the Fibrinogen levels. We also verified a significant increase at the total cholesterol and platelet aggregation up to 10%. Therefore, it was evidenced through this study that the use of hormonal contraceptives may increase cardiovascular risk. Besides, our data represents an alert since, in Brazil, the primary contraceptive hormone prescribed in public health units consists of second-generation drugs, which are the ones that most present associations with cardiovascular risk.

• Linear Prediction System in Measuring Glucose Level in Blood

  Authors: Intan Maisarah Abd Rahim, Herlina Abdul Rahim, Rashidah Ghazali, Keywords: Diabetes, glucose level, linear, near-infrared (NIR), non-invasive, prediction system. DOI:10.5281/zenodo.2643516 Abstract: Diabetes is a medical condition that can lead to various diseases such as stroke, heart disease, blindness and obesity. In clinical practice, the concern of the diabetic patients towards the blood glucose examination is rather alarming as some of the individual describing it as something painful with pinprick and pinch. As for some patient with high level of glucose level, pricking the fingers multiple times a day with the conventional glucose meter for close monitoring can be tiresome, time consuming and painful. With these concerns, several non-invasive techniques were used by researchers in measuring the glucose level in blood, including ultrasonic sensor implementation, multisensory systems, absorbance of transmittance, bio-impedance, voltage intensity, and thermography. This paper is discussing the application of the near-infrared (NIR) spectroscopy as a non-invasive method in measuring the glucose level and the implementation of the linear system identification model in predicting the output data for the NIR measurement. In this study, the wavelengths considered are at the 1450 nm and 1950 nm. Both of these wavelengths showed the most reliable information on the glucose presence in blood. Then, the linear Autoregressive Moving Average Exogenous model (ARMAX) model with both un-regularized and regularized methods was implemented in predicting the output result for the NIR measurement in order to investigate the practicality of the linear system in this study. However, the result showed only 50.11% accuracy obtained from the system which is far from the satisfying results that should be obtained.

• The Need for Including Hepatitis a Vaccine in Routine Childhood Immunization Programs in Europe as a Response to the Influx of Refugees from the Middle East and North Africa (MENA) Regions

  Authors: S. Ramia, N. Melhem, K. Kreidieh, Keywords: European Union, Hepatitis A, MENA Region Refugees, Vaccine preventable diseases. DOI:10.5281/zenodo.1131593 Abstract: The world is facing an unprecedented displacement crisis. Recently, over 1.1 million asylum seekers have been granted protection status in the European Union (EU). The majority of these asylum seekers were from countries of the Middle East and North Africa (MENA) region.This influx carries with it a potential introduction of infectious diseases that have been eliminated in the EU, which poses a challenge for EU health authorities. Compared to MENA region countries where Hepatitis A Virus (HAV) endemicity is high to intermediate, member states of the EU show very low (Western Europe) to low (Eastern Europe) levels of HAV endemicity. Because of this situation, there is an ongoing public health concern in high-income countries, like members of the EU, that many adults remain susceptible to HAV outbreaks. The overwhelming majority of the EU members’ states do not include HAV vaccine in their immunization calendars. Hence, this paper urgently calls for the implementation of new policies regarding HAV in EU members’ states.

• A Self Organized Map Method to Classify Auditory-Color Synesthesia from Frontal Lobe Brain Blood Volume

  Authors: Takashi Kaburagi, Takamasa Komura, Yosuke Kurihara, Keywords: Absolute pitch, functional near-infrared spectroscopy, prefrontal cortex, synesthesia. DOI:10.5281/zenodo.1129602 Abstract: Absolute pitch is the ability to identify a musical note without a reference tone. Training for absolute pitch often occurs in preschool education. It is necessary to clarify how well the trainee can make use of synesthesia in order to evaluate the effect of the training. To the best of our knowledge, there are no existing methods for objectively confirming whether the subject is using synesthesia. Therefore, in this study, we present a method to distinguish the use of color-auditory synesthesia from the separate use of color and audition during absolute pitch training. This method measures blood volume in the prefrontal cortex using functional Near-infrared spectroscopy (fNIRS) and assumes that the cognitive step has two parts, a non-linear step and a linear step. For the linear step, we assume a second order ordinary differential equation. For the non-linear part, it is extremely difficult, if not impossible, to create an inverse filter of such a complex system as the brain. Therefore, we apply a method based on a self-organizing map (SOM) and are guided by the available data. The presented method was tested using 15 subjects, and the estimation accuracy is reported.

• A Linear Regression Model for Estimating Anxiety Index Using Wide Area Frontal Lobe Brain Blood Volume

  Authors: Takashi Kaburagi, Masashi Takenaka, Yosuke Kurihara, Takashi Matsumoto, Keywords: Stress, functional near-infrared spectroscopy, frontal lobe, state-trait anxiety inventory score. DOI:10.5281/zenodo.1129580 Abstract: Major depressive disorder (MDD) is one of the most common mental illnesses today. It is believed to be caused by a combination of several factors, including stress. Stress can be quantitatively evaluated using the State-Trait Anxiety Inventory (STAI), one of the best indices to evaluate anxiety. Although STAI scores are widely used in applications ranging from clinical diagnosis to basic research, the scores are calculated based on a self-reported questionnaire. An objective evaluation is required because the subject may intentionally change his/her answers if multiple tests are carried out. In this article, we present a modified index called the “multi-channel Laterality Index at Rest (mc-LIR)” by recording the brain activity from a wider area of the frontal lobe using multi-channel functional near-infrared spectroscopy (fNIRS). The presented index aims to measure multiple positions near the Fpz defined by the international 10-20 system positioning. Using 24 subjects, the dependencies on the number of measuring points used to calculate the mc-LIR and its correlation coefficients with the STAI scores are reported. Furthermore, a simple linear regression was performed to estimate the STAI scores from mc-LIR. The cross-validation error is also reported. The experimental results show that using multiple positions near the Fpz will improve the correlation coefficients and estimation than those using only two positions.