Yesenia Pérez Expósito's scientific contributions

Introduction: spinal muscular atrophy consists of a degeneration of the anterior antlers of the spinal cord from hereditary causes with Mendelian autosomal recessive pattern leading to progressive muscle weakness of very bad prognosis. Severe prenatal expression produces a diminution in fetal movements and generates multiple joint contractures. Objectives: to present the clinical-genetic characteristics of a patient with multiple arthrogryposis secondary to spinal muscular atrophy. Method: an observational, descriptive, case report type study was carried out. The prenatal, perinatal and postnatal history of the patient was described. The information was obtained through a detailed review of the genetic history and was submitted with a prior informed consent of the relatives. Results: prenatal history of pregnancy at risk by advanced maternal age and an adenocarcinoma of the right ovary which was excised in the third trimester. Preterm birth by Caesarean section presented low Apgar due to respiratory distress. Generalized muscular hypotonia is observed, absence of osteotendinous reflexes, deformities in all of the four limbs, contractures at the level of large joints. Its unfavorable evolution motivated the performance of molecular study for spinal muscular atrophy which was positive for deletion of exon 7 of the SMN1 gene. Conclusions: arthrogryposis, as a multifactorial condition, can be as a result of environmental phenomena of prenatal origin and genetic neuromuscular diseases. The severity of this case stands in the mixed component of its etiology.

Introduction: With the advances of obstetric and neonatal care, congenital defects at birth have led to a relative increase in child morbidity and mortality all over the world. Objectives: to assess the incidence of congenital malformations in San Luis municipality during 2000-2009 and to classify them regarding the systems or apparatus affected, to precise the effectiveness of prenatal diagnosis, the decision making of the couple after the diagnosis and repercussion on infant mortality. Material and method: a retrospective and descriptive study about the congenital defects diagnosed during prenatal periods and after birth at “Epifanio Rojas Gil” polyclinic in San Luis municipality; that was carried out throughout 2000-2009 using the records of prenatal diagnosis in the genetic services, which enriched the analysis of the cases assessed in the clinical genetic office. Results: the incidence of congenital defects diminished during the second five-year period, showing a much better control and follow-up of women in fertile ages and pregnant women. The majority of the defects were prenatally diagnosed (60%) where ultrasound along with alpha fetoprotein [AFP] analysis were the most effective diagnosis means, mainly during the last five years. Cardiovascular malformations and neural tube defect closure were the most frequent. The rate of infant mortality related to congenital defects was low, however 2003 showed the greatest incidence, prevailing the defects in cardiovascular system, no cases were reported during the last five-year period. Conclusions: decentralization of genetic services allowed improvements in prevention, early diagnosis and survival of newborn carrying congenital defects in San Luis municipality.

Se presenta un niño con trastorno de la pigmentación de la piel. Posee antecedentes familiares de igual entidad. A través de la confección de la historia clínica, confección del árbol genealógico, y fundamentalmente, el examen físico se le diagnóstica de piebaldismo. Se trata de una rara entidad, por lo tanto, se decide la revisión de la literatura médica.A child presenting a pigmentary disorder in the skin attended to the genetic office, the patient has a familial history with the same entity. Through the preparation of the clinical chart, family tree was examined; Piebaldism was mainly diagnosed by physical examination. Since this is a rare entity, a medical literature revision was carried out.