Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms.

BACKGROUND: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose birth defects, genetic disorders, and infertility, among other complex phenotypes, in individuals across a wide range of ages. Hence, the present study wants to contribute to the knowledge of type and frequency of chromosomal alterations and polymorphisms in Ecuador. METHODS: Cytogenetic registers from different Ecuadorian provinces have been merged and analyzed to construct an open-access national registry of chromosome alterations and polymorphisms. RESULTS: Of 28,806 karyotypes analyzed, 6,008 (20.9%) exhibited alterations. Down syndrome was the most frequent autosome alteration (88.28%), followed by Turner syndrome (60.50%), a gonosome aneuploidy. A recurrent high percentage of Down syndrome mosaicism (7.45%) reported here, as well as by previous Ecuadorian preliminary registries, could be associated with geographic location and admixed ancestral composition. Translocations (2.46%) and polymorphisms (7.84%) were not as numerous as autosomopathies (64.33%) and gonosomopathies (25.37%). Complementary to conventional cytogenetics tests, molecular tools have allowed identification of submicroscopic alterations regions or candidate genes which can be possibly implicated in patients' symptoms and phenotypes. CONCLUSION: The Ecuadorian National Registry of Chromosome Alterations and Polymorphisms provides a baseline to better understand chromosomal abnormalities in Ecuador and therefore their clinical management and awareness. This data will guide public policy makers to promote and financially support cytogenetic and genetic testing.

Caracterización clínica, epidemiológica y genealógica de la esquizofrenia en pacientes de la Policlínica Alcides Pino Bermúdez de Holguín / Clinical Epidemiological and Genealogical Characterization in Schizophrenia Patients of Alcides Pino Bermúdez Polyclinic of Holguín

Antecedentes : la e squizofrenia es la causa más frecuente de enfermedad mental crónica, afecta aproxim adamente al,1 por ciento, de la población y con stituye un grupo de trastornos psicóticos común en adole scentes y adultos jóvenes. En el m unicipio Holguín existe un número importante de casos . Objetivo s : d escribir el comportamiento c línico : forma clínica predominante, edad de aparición de los primeros s íntomas, antecedentes de intento suicida, síntomas referidos por los casos ; e pidemiológico : distribución de lo s casos según edad y sexo, color de la piel y el nivel de escolaridad; y g enealógico de la enfermedad . Método s : se realizó un estudio descriptivo t ransversal que tuvo como universo 30 pacientes d el área de salud Alcides Pino Bermúdez con el diagnóstico de e squizofrenia y antecedentes patológicos familiares de esta enfermedad . La información fue recogida a través de una entrevista . Se clasificó la en fermedad por la Décima Clasificación de Enfermedades Mentales CIE - 10 y por el Manual Diagnóstico y Estadístico de los Trastornos Mentales DSM - IV. También se elaboraron los árboles genealógicos de las familias de estos pacientes. Resultados: e l interv alo de 30 - 39 años en ambos sexos grupos fue predominante. Se observó un mayor n úmero de los varones enfermos. La forma clínica predominante fue la paranoide 70 por ciento, prevalecieron los síntomas positivos como las alucinaciones y las ideas delirantes 66,6 por ciento ; el 63,3 por ciento presentó antecedente s de intento suicida . L os primeros síntomas aparecieron en edades tempranas , 15 19 y 20 - 29 años (AU)

Background : Schiz ophrenia is the most common cause of chronic mental illness that affects approximately,1 percent, of the population and is a group of psychotic disorders that is frequent in adolescents and young adults. The municipality of Holguín provides a sig nificant number of cases. Objectives: t o describe the clinical behavior: predominant clinical form, age of onset of symptoms, history of attempted suicide, symptoms reported by cases; epidemiology : distribution of cases by age and sex, skin color and school level, and genea logy of disease. Methods : a descriptive cross -sectional study was carried out. The universe comprised ,30, patients with a diagnosis of schizophrenia and pathological family history of this disease of Alcides Pino Bermudez health area. The information was c ollected through an interview. Disease was classified by the Tenth Classification of Mental Diseases ICD - ,10, and the Diagnostic and Statistical Manual of Mental Disorders DSM - IV. Also was developed the pedigrees of the families of these patients. Results : The age group between ,30 -39, years in both sexes was the predominant. A higher number of male patients were observed . Paranoid clinical manifestation was the predominant one , 70 percent, as well as positive symptoms, such as visual hallucinations and delirium , 66.6 percent , 63.3 percent, of them had history of suicide attempts. The age of onset of symptoms was early, 15 -19,and ,20 - 29, years . The secondary level of education, were frequents .Conclusions : the appearance of the first symptoms of the disease at an early age of life highlights the need to promote strategies for family counseling for better prevention and treatment of disease(AU)