International Epigenetics and Epitranscriptomics Conference November 26-27, 2018 Helsinki,Finland

Biography:

Victor Lage de Araujo is a Brazilian Physician and a Clinical Pathologist Graduate. His specialties are clinical chemistry, hemotherapy, hospital-associated infection control. He is a Member of the Brazilian Society for Clinical Pathology and International. He is a Fellow of the College of American Pathologists. He works as Clinical Pathologist and Infection Control Professional at the Sarah Network of Rehabilitation Hospitals, Brazil.

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Biography:

Yohannes Negesse is a Pathologist trained in France and USA. He has worked more than 20 years in Ethiopia in different institutions. He is presently working in the Centre Hospitalier Universitaire de la Guadeloupe, France. He has published more than 20 papers in the field of infectious diseases pathology

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Biography:

Grigorios Leon is the President of Hellenic Society of Forensic Medicine and is a Representative (Deputy) of Greece in the European Council of Legal Medicine. He is on the lists of experts in the County Courts of Law (Athens, Piraeus, etc.). He is a Graduate (MD) of the Medical School of the University of Rome “La Sapienza”, where he obtained two Master degrees (MSc). In 2009, he received his PhD from the Medical School of the National and Kapodistrian University of Athens. His research interests are in the areas of forensic pathology, medical deontology and bioethics.

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Clinical trials are scientific evaluations of medical interventions for the treatment of somatic or psychological conditions that provide an analysis of the quality, safety and efficacy of particular products or a method of evaluating two products for their comparative value. Clinical trials can be randomized and non-randomized. A randomized clinical trial comprises two (or possibly more) experimental or treatment groups in which trial subjects are randomly assigned into different groups to ensure internal validity. If there are two groups, one group receives the product being studied and the other group receives the standard therapy/product or a placebo. There are four cases in which a placebo control design, when scientifically appropriate, is also considered ethically acceptable. First, placebo control trials are acceptable when there is no proven effective intervention for the condition under study or when placebo is compared against an investigational treatment added on to established treatment. Second, placebo is acceptable when withholding an established, effective intervention would expose subjects to at most, temporary discomfort or delay in relief of symptoms, as noted in the Council of International Organizations of Medical Sciences’. A third justification is sometimes invoked to justify placebo controls in trials of new treatments for conditions whose response to both established treatments and placebo is highly variable. Finally, compelling methodological reasons for use of placebo and participants are not deprived of interventions they would otherwise receive and research intended to develop interventions that will benefit the host population. Invoking the principle of clinical equipoise, opponents of placebo-controlled trials in the face of proven effective treatment argue that they (1) violate the therapeutic obligation of physicians to offer optimal medical care and (2) lack both scientific and clinical merit. As a conclusion placebo controls are ethically justifiable when they are supported by sound methodological considerations and their use does not expose research participants to excessive risks of harm.

Biography:

Marko Björn has completed his Master of Nursing Science from University of Eastern Finland and he is currently pursuing his PhD studies in University of Eastern Finland. He is a Lecturer in Turku University of Applied Sciences, Biomedical Laboratory Sciences.

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Molecular biology is more used method in clinical laboratory diagnostic. It is also used method in pathology. There are still people using principal methods in histology, but molecular biology methods have rapidly developing field within pathology. The molecular method is focused in diagnostic but also therapeutic response of human disease, the interest in oncology field. In the past year’s pathologist have been interested in morphology, but now they are interested to make decisions on treatment rapidly and monitoring of response to treatment is coming a major role. Molecular pathology methods like FISH (Fluorescent in situ Hybridization), CISH (Chromogenic in situ Hybridization), NGS (Next Generation Sequencing), RT-PCR are using clinical pathology. RNA based methods are also used in pathology. The use indication for the fusion gene is most commonly the lung adenocarcinoma, driver mutations. For example, ALK-1 and ROS-1 translocation carcinoma are found to be highly potent drugs. The importance of guiding the study is high in those few patients who have a genetic change sensitive to drug treatment. In Helsinki University hospital they currently conduct these fusion panel studies on a weekly basis. Molecular pathology and predictive medicine are two rapidly developing field within pathology and they probably will change the classic role of pathologists and laboratory scientists.

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A practical hands-on approach to the use of MRI techniques is provided to promote further fetal pathological conditions and methods of prenatal MRI diagnosis. The implications of fetal MRI is based on medico-legal and ethical view points has significantly considered. MRI of fetus will be done in the second and third trimester of pregnancy since fetus in the first trimester and intravenous contrast study is not applicable for the fetal MRI. Gestational age is estimated on the basis of the time of the last menstrual period. Placenta previa, placenta accreta, placenta hemorrhagia or hematoma. Oligoamnius or hydroaminius are detected in standard study of fetal MRI as well as the detection of congenital deformity and delay of growth (IUGR ) which named equele to disease is the main and unique approach through the surveillance: CNS (brain and spine), abdominal and pelvic, musculoskeletal, cardiovascular. Sequences are based on (Fiesta, SPARE -SS-TSE T2 , FSE T2 , DWI and T1 FLAIR ). It is advised for the metabolic disorder, MR spectroscopy is indicated as brain study in MRI in the following relevant cases: Hydrocephalus-Agenesis of corpus callousum, atrophy, hypoxemia, cyst, tumor, chiari malformation-Dandy walker cyst, leukoencephalopathy, tumor (meduloblastoma, papilloma, glioma, ependymoma), colloid cyst, germionoma, dermoid, epidermoid, lissencephaly, schisencephaly, holoporozencephaly. Of 137 women, 100 (60%-70%) were diagnosed with rare cerebral diseases. History of congenital genetically disorders in familial marriages, presents approved findings of brain lesions in USG or sonography screening study. 

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Biography:

Massoud Houshmand has completed his Ph.D. in Medical Molecular Genetic from Gothenburg University, Gothenburg, Sweden. He is the Head of the Genetic Diagnostic Laboratory, Faculty Member of National Institute for Genetic Engineering and Biotechnology and Responsible Director of Personalized Medicine journal. He has organized about 22 workshops and seminars and has published more than 220 papers and 17 books. He is the Winner of Best Iranian Researcher in Medical Genetic 2010, Winner of ISESCO prizes in Science & Technology 2014 and winner of Best Iranian Researcher 2015

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Monogenic disorders (monogenic traits) are disorders caused by variation in a single gene and are typically recognized by their striking familial inheritance patterns. Examples include sickle cell anemia, cystic fibrosis, Huntington disease, and Duchenne muscular dystrophy. By contrast, complex disorders (complex traits) are those in which multiple genes play a role, often together with environmental factors. These include many complex disorders such as cardiovascular disease, asthma, diabetes, and cancer susceptibility. Alleles are typically expressed by one letter. The capital form of the letter represents the dominant allele, while the lowercase version of the letter represents the recessive allele. Children get one allele for a trait from their father and the other allele for a trait from their mother. These two alleles come together to decide what the actual phenotype of a trait is going to be. A phenotype is the physical representation of a trait, such as brown hair, blue eyes, or freckles. If a child receives either one or two dominant alleles, they will show the dominant phenotype. If a child receives two recessive alleles, they will show the recessive phenotype. Non-Mendelian inheritance is any pattern of inheritance in which traits do not segregate in accordance with Mendel's laws. These laws describe the inheritance of traits linked to single genes on chromosomes in the nucleus. In Mendelian inheritance, each parent contributes one of two possible alleles for a trait. If the genotypes of both parents in a genetic cross are known, Mendel’s laws can be used to determine the distribution of phenotypes expected for the population of offspring. There are several situations in which the proportions of phenotypes observed in the progeny do not match the predicted values. Non-Mendelian inheritance plays a role in several disease processes. Here we will learn about the different type of inheritance and how we can detected.

Biography:

Jaber Haj-Ali has completed his Master’s degree from AL-Quds University and currently pursuing his PhD on telomere length measurements and pollution exposure at Charite University School of Medicine, Germany. He is the Founder and Director of consulting medical laboratory in Palestine.

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Biography:

Royce P Vincent is a Consultant Chemical Pathologist at King’s College Hospital NHS Foundation Trust and an Honorary Senior Lecturer at King’s College London, UK. He has a special interest in nutrition and endocrinology and is the Clinical Lead for Biochemistry and Parenteral Nutrition Services. He has obtained his MD (Res) at Imperial College London and his research interests are in obesity, endocrinology and clinical nutrition. He has published multiple original and review articles and is serving as an international Editorial Board Member for Translational Metabolic Syndrome Research

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Non-Alcoholic Fatty Liver Disease (NAFLD) has become increasingly common worldwide over the last decades due to the obesity epidemic. By definition NAFLD requires that there is evidence of hepatic steatosis, either by imaging/histology or there are no causes for secondary hepatic fat accumulation-significant alcohol consumption, steatogenic medication, hereditary disorders etc. and is characterized by liver steatosis (accumulation of triglycerides >5% in liver weight). NAFLD is strongly associated with metabolic syndrome (insulin resistance, obesity and dyslipidemia). The disease reaches a peak in the fifth and sixth decades of life and at present nearly 25% of adults in Europe with fatty liver have NAFLD. NAFLD is a clinic-pathological entity that comprises a liver disease spectrum spanning from non-inflammatory isolated steatosis to NonAlcoholic Steatohepatitis (NASH), a more aggressive form of the disease, which is characterized by steatosis, inflammatory changes and varying degrees of liver fibrosis to end-stage liver disease. Furthermore, NAFLD may be complicated by cirrhosis or Hepatocellular Carcinoma (HCC). It is now set to become the major cause of liver transplantation in adults as it is the most important cause of cryptogenic cirrhosis. The pathogenesis of NAFLD is multifactorial but is yet to be fully elucidated. This session will explore our current knowledge about the pathophysiology of obesity associated liver disease, its management strategies and the role of metabolic surgery to address this global health problem. 

Biography:

Adam Elzagheid is a Professor at Biocenology Research Centre (BTRC), acting as a General Director of BTRC, Tripoli, Libya. He has worked as a Dean of Faulty of Medicine, Benghazi University, Benghazi, Libya, Head of Department of Pathology, Faculty of Medicine, University of Benghazi. Post-doctoral Fellow and Research Associate at University of Turku, Faculty of Medicine, Oncology and Pathology Departments, Turku, Finland.

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Aim: To assess the prognostic significant of survivin and livin protein expression in primary invasive breast cancer and in metastatic breast cancer to lymph node.

Material & Methods: The present study consists of archival samples from 78 patients of invasive breast cancer during 20102014 diagnosed at Misurata Cancer Center, Misurata, Libya. Tumor biopsies were analyzed for expression of survivin and livin by immunohistochemical, different grading systems were tested for survivin and livin expression.

Results: Survivin expression in primary breast cancer shows a significant correlation between survivin expression and site of tumor (P=0.021), higher expression of survivin was in patients without recurrence (p=0.036), survivin expression correlated significantly with unifocal tumor (P=0.001), Moreover HER-2 negative tumor express survivin more than HER-2 positive tumor (P=0.047). There was no significant difference in survivin expression as regards histological grade, histological type, lymph node status, tumor stage, TNM classification, estrogen, progesterone receptors, distance metastases, chemotherapy, radiotherapy, hormone replacement, vascular invasion, surgical margin, positive family history. Livin expression in primary breast cancer shows a significant correlation (P=0.025) with positive family history. There was no significant association with other clinicopathological parameters. We further studied the association of survivin and livin expression with secondary breast cancer (lymph node metastases), we found that primary tumor show higher survivin expression (82%) compared with secondary breast cancer (34%) while livin expression did not differ between the primary (71%) and secondary breast cancer (84%).

Conclusion: Survivin expression in primary breast cancer is significantly associated with parameters of good prognosis. Livin expression in primary breast cancer is significantly associated with positive family history of breast cancer.

Biography:

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Applying MRI during pregnancy to detect fetus abnormalities. In this case the child is afflicted by phocomelia. A male fetus is detected in 32 week of gestational age by Trans abdominal sonography, right unilateral phocomelia is diagnosed for this patient. Right shoulder, arm and elbow are seen developed but just only proximal epiphysis of radius and ulna are seen. The rest of forearm bones and hand are not developed. The mother has not taken thalidomide or the other pills during pregnancy. After delivery, radiography was performed for newborn and this type of phocomelia was approved. Autosomal recessive genetic disorder is represented for this patient after sonography 2D and 3D. Fetal MRI was also performed and then phocomelia was detected after delivery. Pathology of the newborn, confirmed the phocomelia of right upper extremity. Radiography of right arm, elbow and forearm was done and epiphysis nuclei of proximal, of radial and ulnar bones. Hand surgeon visited him and planned for cleavage of soft tissue of right elbow for fork appearance functional forearm in 3 month later. 

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Herein, KIT-6 nanoporous silica nanoparticles were used as a solid support for immobilization of bovine carbonic anhydrase, isoform II (BCA II). The zeta potential study revealed that KIT-6 and BCA II provided negative (-13.58±1.95 mV) and positive (4.23±0.72 mV) charge distribution, respectively. Dynamic Light Scattering (DLS) analysis also showed that the hydrodynamic radius of KIT-6 is less than 100 nm. In addition, the structural studies of free and immobilized BCA II against urea-induced denaturation were investigated by Circular Dichroism (CD) and fluorescence spectroscopy. CD studies showed that the absorbed BCA II, in comparison with the free enzyme, demonstrated higher stability against rising urea concentration. Fluorescence spectroscopy showed lower values of Stern-Volmer constant (KSV) for immobilized BCA II relative to free enzyme, reflecting the relative enzyme stability of BCA II after immobilization. Melting temperature (Tm) measurement of free and immobilized BCA II showed that immobilized enzyme had a more stable structure (Tm=71.9 ºC) relative to the free counterpart (Tm= 64.7 ºC). In addition, the immobilized BCA II showed pronounced stabilities against pH and thermal deactivation. This study may provide new and complementary details regarding the design and development of enzymes in industrial applications. 

Biography:

Jitendra Kumar Sharma is a senior resident in Sawai Man Singh Medical College. He has completed his MBBS. He is also State Coordinator of Jaipur Associations of Resident Doctors.

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Biography:

Yohannes Negesse is a Pathologist trained in France and USA. He has worked for more than 20 years in Ethiopia in different institutions. He is presently working in the Centre Hospitalier Universitaire de la Guadeloupe. France. He has published more than 20 papers in the field of infectious diseases pathology.

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