American Journal of Genetics


EFFECT OF FOLIC ACID FORTIFICATION ON THE PREVALENCE OF NEURAL TUBE CLOSING DEFECTS IN GOIÁS

Research Article of American Journal of Genetics EFFECT OF FOLIC ACID FORTIFICATION ON THE PREVALENCE OF NEURAL TUBE CLOSING DEFECTS IN GOIÁS Vivian Divina Correia Ribeiro1*; Denise da Silva Pinheiro2; Isabela Amorim Jesuíno3; Isadora Cristina Mendes4; Lilian Carla Carneiro5; Rosália Santos Amorim Jesuíno6. 1Instituto de Ciências Biológicas, Universidade Federal de Góias; 2 Laboratório de Análises Clínicas e Ensino em Saúde, Instituto de Ciências Biológicas, Universidade Federal de Goiás; 3Universidade Federal do Mato Grosso do Sul; 4Programa de Pós-Graduação em Ciências da Saúde, Faculdade de Medicina, Universidade Federal de Goiás; 5Instituto de Patologia Tropical e Saúde Pública, Universidade Federal de Goiás; 6Departamento de Bioquímica e Biologia Molecular, Instituto de Ciências Biológicas, Universidade Federal de Goiás. Introduction: Neural Tube Closure Defects classify the most common congenital anomalies of the central nervous system and constitute the main preventable congenital malformation through nutritional strategies. Although its mechanism of action is little known, it is known that folic acid is an important cofactor in the synthesis of amino acids and nucleic acids, therefore, the lack of this nutrient can prevent the correct cellular mitosis interfering already in the early stages of development embryonic. Objective: To evaluate the effect of dietary fortification of wheat and corn flour with folic acid on the prevalence of Neural Tube Closure Defects in Goiás. Methods: A cross-sectional study was designed to compare the prevalence of neural tube closure defects at two stages: before (2000 to 2004) and after (2005 to 2013) the introduction of mandatory supplementation of folic acid wheat and maize flour. (June 2004). Secondary data provided by the Live Birth Information System (SINASC) and Mortality Information System (SIM) for mothers living in the state of Goiás were used. Results: In the period studied (2000 to 2013), there were a total of 1,269,393 live births and 11,350 dead births, ...

KABUKI SYNDROME: A LITERATURE REVIEW

Review  Article of American Journal of Genetics KABUKI SYNDROME: A LITERATURE REVIEW Beatriz Reis de Melo Veras1*, Mariana Cardoso Schroeder1, Marina de Araújo Câmara Gusmão1, Mirela Carolaine Cunha da Cruz1, Héberte de Santana Arruda2 Introduction. Kabuki syndrome is a rare congenital anomaly characterized by defects craniofacial, intellectual and cardiac. It has a clinical diagnosis and its main phenotypic characteristic observed is the facial dysmorphia, very similar to the makeup used by the Japanese theater actors Kabuki. This review aims to describe the characteristics of Kabuki Syndrome and its main implications. Methodology. A literature review was conducted with research on the following databases: PubMED, BVS and SCIELO. Five scientific papers and two dissertations were selected. Results. It is believed that the disease is related to a mutation of the MLL2 gene, which is responsible for coding the group of Tritorax proteins, which have as their main regular function and genetic expression. Conclusion. This disease is still poorly understood in the health not having a clarity about their phenotypic / genotypic relationship needing further studies on the subject. Keywords: Kabuki, Kabuki syndrome, Kabuki make-up syndrome, congenital abnormalities ...

Aase syndrome: clinical and behavioral Symptoms

Review  Article of American Journal of Genetics Aase syndrome: clinical and behavioral Symptoms Glauciele Souza de Santana¹*; Daniella de Andrade Monteiro1; Hellen Kevillyn Brito de Souza1; Ieli Lima da Silva1; José Carlos Izidio Filho1; Héberte de Santana Arruda2; Introduction: Aase-Smith syndrome is a rare genetic disease characterized by anemia and skeletal deformities. The age at the start of symptoms is since birth and it´s commom in both sexes. * Show the syndrome problem in individuals, their clinical and behavioral characteristics. Contribute to a better understanding of the Aase Syndrome with syndromes that lead to similar symptoms. Methodology: This literature review on the syndrome was performed with research of information in published scientific articles. Result: Analyzed some common and rare symptoms, reports of observed cases of Aase-Smith syndrome, jointly with their respective symptoms and other syndromes, in addition whit the authors’ arguments in their articles that interpose, for example, about the genetic inheritance of the syndrome is dominant or recessive. Conclusion: The relationship between Aase syndrome and congenital hypoplasia anemia is not fully understood by the scientists and the syndrome represents a challenge in the approach to treatment, since this syndrome has no cure and does not present a standard treatment approach. Keywords: Aase syndrome, Aase-Smith, Symptoms ...

PRADER WILLI SYNDROME: A LITERATURE REVIEW

Review  Article of American Journal of Genetics PRADER WILLI SYNDROME: A LITERATURE REVIEW Marianne Pereira de Moura¹, Bárbara Catariny Santos Mourelhe¹*, Bruna de Carvalho da Costa Pereira¹, Bruna Gusmão Cabral de Mello¹; Melissa Lessa Kabbaz Asfora¹, Evandro Valentim da Silva² 1Graduandos em Odontologia pela Universidade Federal de Pernambuc ² Biólogo e Cirurgião-Dentista com mestrado e doutorado em Ciências Farmacêuticas Objective: To review articles and case reports on Prader-Willi Syndrome, observing its characteristics and relating its treatment to the various fields of health. Methodology: As a result of articles found in the following databases: PubMed, MedLine, SciELO and European journal of human genetic Results: SPW can be diagnosed in the neonatal period through genetic studies or physical characteristics, it is a disease that has no cure, but can be treated, preferably early, to ensure the greatest comfort to the patient during his life. Conclusion: Because it is a syndrome that affects the patient in behavioral, structural and intellectual environments, act jointly to ensure the well being of the individual with SPW. Keywords: Prader-Willi syndrome, multidisciplinary treatment, genetic disease ...

Dr Amanjot Kaur Riar
Brigham and Women’s Hospital- Harvard Medical School, Department of Medicine, Harvard New Research Building USA

Dr. Bogdan-Ioan COCULESCU
Center for Medical-Military Research, Bucharest, Romania, and “Titu Maiorescu” University, Faculty of Medicine, Bucharest, Romania

Dr. Mahaboob Vali Shaik
Assistant Professor/Senior Scientist, Department of Genetics & stem cell Research, Narayana Medical College & Hospitals

Dr. Omi Laila Majeed
Division of Basic Sciences and Humanities, Sher-e-Kashmir University of Agricultural Sciences and Technology

Dr. Naoshad Muhammad
Department of Radiation Oncology, School of Medicine, Washington University in Saint Louis, Saint Louis MO-63108

Dr. Abhishek Naik
Area Manager, Technology development department

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1.Silva F.F.L.; Silva K.S.. Main Differences Between Diabetes Mellitus Types 1 and 2 in Relation to Genetic Factors.American Journal of Genetics, 2018, 1:4 
2.Nascimento L.S.F; Melo A.S; Araújo A.R.L. Validation of the Conventional PCR technique for diagnosis of AML with NPM1 gene mutation.American Journal of Genetics, 2018, 1:3 

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