Biography:

Frenkel Guisado Bourzac is an Auxiliary Professor (equivalent to Associate Professor, USA) since 2015 and Assistant Professor since 2007 at Faculty of Natural and Exact Sciences, University of Oriente with more than 12 years of teaching experience. His research is focused at biochemistry and molecular biology, ecotoxicology, enzymology, physiology and sport sciences. He has received his Master of Science degree from UCCFD and PhD is in progress. He has published more than 11 papers in reputed journals with 19 international meetings and congresses participations where others 17 research reports have been published in CD-ROM memories and other scientific journals.

Abstract:

Speed is limited morphologically and physiologically by different factors. Among others, human dimensions and osteomuscular ratios determine speed performance at biomechanical level. The number and type of contractile fibers, favoring anaerobic or aerobic energy supply, provide another restriction for muscle power. Even all of them could be modified under certain conditions in a limited rate through exercise training; there are always restrictions by ethnic variations due to genetic heritage of such populations. Finally, molecular storage capacity and kinetic for each pathway is at first line restraining real performance instead of any other improvement at other levels. Records from race constitute a first approach for integrated and non-integrated metabolic system for power supply at muscle fibers. Without drugs influence, they represent the best net effort from the muscular and metabolic machinery of those individuals for different distances. A mathematical modeling was developed for ranges analysis for best performance at different energetic supply rates for establishing tendencies and limits in power. Equations during heterochronism phase reveal speed increase of up to a=4.66 m/s2 (R²=0.9866) until reach a maximum speed of 11.79 m/s for few seconds and a global equation for overall performance of V=-0.646 ln(t)+11.097 (R²=0.9104). Equations by intervals are provided with statistical analysis for each determination with the metabolic interpretation and biological relevance, giving benefits for health during recovering process and evaluation derived from both physical training and fitness and a potential tool for evaluating individual’s capacities and discovering of disruptions.

Biography:

Ramon Cacabelos is a Professor of Genomic Medicine at Camilo Jose Cela University, Spain and President of the EuroEspes Biomedical Research Center, Spain. He has received his MD from Oviedo University, PhD from Santiago University and DMSci in Psychiatry from Osaka University Medical School, Japan. After a decade at the Department of Psychiatry in Osaka, he returned to Spain and focused his research activity on the genomics and pharmacogenomics of neurodegenerative disorders. He has published over 600 papers and 24 books and is an Editor-in-Chief of the first World Guide for Drug Use and Pharmacogenomics and President of the World Association of Genomic Medicine.

Abstract:

Over 80% of patients with dementia older than 75 years of age exhibit a clear cerebrovascular component characterized by brain hemodynamic alterations, microinfarcts or ischemic signs. In Alzheimer’s disease (AD) patients, hypertension (>25%), overweightness (>40%) or obesity (>20%), diabetes (25%), hypercholesterolemia (>40%), hypertriglyceridemia (20%), cardiovascular disorders (>40%), atherosclerosis (>60%) and metabolic deficits (>20%) are common concomitant disorders contributing to premature neurodegeneration. In a cohort of 1803 patients with AD and 1096 controls, several SNPs in genes associated with lipid metabolism (APOE, APOB, APOC3, CETP, LPL), endothelial function and hypertension (NOS3, ACE, AGT), immune response and inflammation (IL1B, IL6, IL6R, TNFA) and thrombosis (F2, F5, MTHFR) were investigated. Although no significant differences were found between AD and controls, except in the case of APOE (p<0.0001), different SNPs in these genes exert a pathogenic influence in vulnerable patients. The therapeutic response to conventional drugs in AD is genotype-specific. The APOE-TOMM40 region is a reference locus in the pharmacogenetics of AD. APOE-4 carriers are the worst responders and APOE-3 carriers are the best responders to drugs. TOMM40 poly T-S/S carriers are the best responders, VL/VL and S/VL carriers are intermediate responders and L/L carriers are the worst responders to treatment. Patients harboring a large (L) number of poly T repeats in intron 6 of the TOMM40 gene (L/L or S/L genotypes) in haplotypes associated with APOE-4 are the worst responders to treatment. CYP2D6, CYP2C9, CYP2C19 and CYP3A4/5 variants also influence the pharmacogenetic outcome in AD. Polypharmacy in AD requires a personalized intervention to optimize therapeutics.

Biography:

Abstract:

Aim: To explore placental tissue expression profile of microRNAs involved in pathogenesis of cardiovascular and cerebrovascular diseases (miR-1, miR-16, miR-17, miR-20a, miR-20b, miR-21, miR-23a, miR-24, miR-26a, miR- 29a, miR-33a, miR-92a, miR- 100, miR-103, miR-122, miR-125b, miR-126, miR-130b, miR-133a, miR-143, miR-145, miR-146a, miR-155, miR-181a, miR- 195, miR-199a, miR-208, miR-210, miR-221, miR-342-3p, miR-499 and miR- 574-3p) in patients with gestational hypertension (n=35), preeclampsia (n=80) and fetal growth restriction (n=35) by real-time qRT-PCR.

Methods: Cardiovascular microRNA expression profile was correlated with the severity of the disease with respect to clinical signs, requirements for the delivery and Doppler ultrasound parameters.

Results: The down-regulation of 3/32 (miR-26a, miR-103, miR-145) microRNAs was found in preeclampsia before 34 weeks. Mir-1 was up-regulated in preeclamsia after 34 weeks. Mir-499 was dysregulated in the group of gestational hypertension and preeclampsia irrespective of the severity of the disease. Mir-499 up-regulation was detected in mild and severe forms of the disease occurring after 34 weeks. Additionally, the up-regulation of miR-499 was observed in IUGR patients. The difference within the IUGR group with normal and abnormal values of flow rate in the umbilical artery was observed for miR-1, abnormal blood flow velocity waveforms showed increased expression of miR-1.

Conclusion: MicroRNAs playing a role in pathogenesis of dyslipidemia (miR-1), insulin resistance and diabetes (miR-26a, miR-103), atherosclerosis (miR-145), coronary artery disease (miR-1, miR-145), myocardial infarction and heart failure (miR- 1, miR-26a and miR-499) were shown for the first time to be dysregulated in preeclampsia. Gestational hypertension and IUGR were associated with the dysregulation of miR-499, involved in pathogenesis of myocardial infarction and heart failure.

Biography:

E Sacide Caglayan has completed her PhD in Medical Genetics from Afyon Kocatepe University in 2010 and worked as a Visiting Scholar in Ruohola-Baker Lab, Institute of Stem Cell & Regenerative Medicine, University of Washington. She is currently working as an Assistant Professor in Ankara Yildirim Beyazit University, Faculty of Health Science, Department of Nutrition in Ankara, Turkey.

Abstract:

The complexity in multifactorial etiology makes it difficult to understand responsible genes contributing to obesity (OB) that is also associated with metabolism-related diseases (MrDs) including Type II Diabetes (T2D), Hypertension (Ht) and Hypercholesterolemia (Hch). Herein, we performed comprehensive pedigree analyses consisting of 1246 female, 1284 male and total 3.156 family members of 59 probands who were accepted in generation III (GEN III). Body Mass Index (BMI) values of 47 probands are included to study. Almost all MrDs were accumulated in GEN I and GEN II. Aging was a valuable risk for OB (OR: 2.96; 95% CI: 1.13-4.55), T2D (OR: 4.92; 95% CI: 2.88-8.42) and Ht (OR: 3.8; 95% CI: 2.36-6.14) among females but was not for males. In family trees, OB in females was positively correlated with total OB (p: 0.000), Ht in females (p: 0.026) and total Hch (p: 0.019). However, male OB was positively correlated with total OB (p: 0.000) and Hch in males (p: 0.011). A positive correlation was also observed between age and BMI values of male probands (p: 0.015), which was not observed in females (p: 0.909). OB in family history was more common (OR: 36; 95% CI: 3.19-405.9) in overweight (BMI≥25) probands than normal individuals in young-aged group (19-29 years old). However, there were no valuable differences between middle-aged probands (30-40 years old). In conclusion, aging is critical factor for only female predisposition to OB and MrDs. Common shared genes between OB and MrDs should be intensively selected for genetic testing in OB and a comprehensive pedigree analysis is valuable for patient-specific evaluation.

Biography:

Seyed Mohammad Azin has completed his PhD at University of Tehran in the field of Private Law. He is a Scientific Board Member of Royan Institute in Tehran, attorney at law and Lecturer in Islamic Azad University of Damavand, Iran. He has published many papers regarding medical law and ethics.

Abstract:

The accelerating progress of Genetics and its wondrous practical benefits has surprised ethical and legal experts. This time, physical sciences surpass ethical and legal considerations and pioneers of genetic evolution all over the world; feel less concern about moral judgments. In this lecture, I suggest a criterion for monitoring genetic prenatal interventions which evaluates morality and legitimacy of what human does contrary to natural phenomenon of gestation. I call it “Random Human Nature Principle”. The principle is supported by at least three ethical milestones. First basis is prohibition of decision making instead of fetus. Fetus, though at least in its first stages of development, lacks enough capacity to be counted as human, has enough respect to have right of life. This involves the right to be born and there is no doubt that we shall let the near future baby decide himself or herself about the physical and mental characteristics and other than the sole exception named below, there is no emergency condition for others’ intervention. So, there is no authority for others to impose their wish to future baby by means of “discretion justifications”. Second basis is forbiddance of human instrumentalism. To promote human features like intelligence or height reduces human position to a product which we intend to create as well as possible. The third milestone is considering human variety as gift rather than defect. Building a society consisting of people with identical physical and mental properties will lead to social stagnation and deprives humankind of opportunities which are provided due to human natural diversity. This differentiation is required to develop a civilization and should not be noticed as a privilege-defect confrontation. Finally, there is a key concept in determining borders of this principle’ application: “Genetic disease or disorder”, this shall be the sole exception regarding accurate calculation of its boundaries.

Biography:

Abstract:

In current study, we enrolled a 46,XY female patient with a testis in her inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A>G (p. Y572C) in exon 2 which is already known to cause CAIS. We focused on the effect of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells with a few tubules containing spermatogonia. This meiotic failure is likely due to the effect of the AR mutation leading ultimately to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Setoli cell maturation arrest. Western blot and real-time PCR data showed that the patient had high levels of expression of AMH, SOX9 and INNB in the testis. Therefore we suggest that dysfunctioning of AR enhances AMH though up-regulation of SOX9 which may serve to protect the testis from precocious Sertoli cell maturation.