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The Profile clinical, biochemical, and molecular epidemiology of Mucopolysaccharidose in University Hospital Alcides Carneiro
Universidade Federal de Campina Grande (UFCG)
Pediatrics department, Carlos Chagas, s/n, Sao Jose, Campina Grande, Par
Paula Frassinetti Vasconcelos de Medeiros
Paula Frassinetti Vasconcelos de Medeiros
English, Portuguese, French, German
Type of Research Project
- Basic science
What is the background of the project?
Mucopolysaccharidosis (MPS) are inherited metabolic diseases caused by inborn errors of metabolism that lead to lack of proper functioning of certain enzymes as a result there is an accumulation of substances normally present in small quantities. The MPS (s) are a group of lysosomal diseases caused by deficiency of an enzyme involved in the catabolism of glycosaminoglycans (GAG) macromolecules present in the extracellular and cellular membrane, and where the overall incidence is estimated at to 4, 5:100.000 births Although a large phenotypic heterogeneity associated with each type of MPS, the most frequent is that the onset of symptoms is given in the child and that patients exhibit organomegaly addition to cardiac, respiratory, eye, bone and joint. Studies conducted on samples from Brazilian patients suggest the occurrence of both underdiagnosis as a higher average age at diagnosis of these patients, which harms the early access of families to genetic counseling and treatment specific Establish the clinical, biochemical, and molecular epidemiology of patients suffering from Mucopolysaccharidoses attended the outpatient clinic of Medical Genetics, University Hospital Alcides Carneiro (HUAC). Aim specific: Establish what changes cardiologists, endocrinologists, pulmonologists, ENT, radiological more prevalent in patients with MPS followed at HUAC. To determine which mutations most frequently associated with the MPS on HUAC. To determine the frequency of types of MPS in the HUAC. Methodology The clinical, biochemical, and molecular epidemiology will be held in the patients treated at the clinic of Medical Genetics, University Hospital Alcides Carneiro (HUAC). ON the sample is then defined as the sum of confirmed cases in the HUAC and those who are diagnosed within one year of research, of course in line with the timetable for implementing the project. The first criterion for inclusion is the existence of evidence that this is Mucopolysaccharidosis by enzyme deficiency, which also determines the type of MPS, and so the epidemiological profile of MPS in the HUAC. The second criterion for inclusion is the free and informed consent to participate. Satisfied the two criteria for inclusion described above patients will have the following assessments: 1 - Medical history with patients and guardians, and tabulated the following variables: birth date, birthplace, age at assessment, medications continued, walking capacity, and other variables in relation to the physical examination will be examined anthropometric measures, pubertal stage and clinical characterization of MPS. 2 - Collection of blood and urine tests and routine pediatric endocrine evaluation and for sending blood samples to study the mutation. 3-To evaluate the liver and spleen volume, there will be total abdominal ultra-sonography 4 - Pulmonary evaluation included clinical examination and spirometry for pediatric pulmonologist 5 - Radiologic evaluation to determine bone age. 6-Clinical cardiology and echocardiography 7 - ENT assessment 8-The last stage will be dedicated to statistical analysis of data obtained through the SPSS data editor. It is intended to publish the data as a whole in an international journal of genetics and the data obtained from evaluations of several experts in specific magazines in the area.
What is the aim of the project?
What techniques and methods are used?
What is the role of the student?
- The student will mainly observe
- The student will observe the practical experiments but will be highly involved in the analysis of the results
What are the tasks expected to be accomplished by the student?
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- The student will prepare a poster
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
The student must have good genetics knowledge.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Graduated students (less than 6 months)
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