ABSTRACT
ABSTRACT Background: Genetic eye disorders, affecting around one in 1000 people, encompass a diverse group of diseases causing severe visual deficiency. The recent adoption of next-generation sequencing techniques, including whole-exome sequencing (WES), in medicine has greatly enhanced diagnostic rates of genetically heterogeneous diseases. Objectives: The objectives of the study were to assess the diagnostic yield of WES in a cohort of Mexican individuals with suspected genetic eye disorders and to evaluate the improvement of diagnostic rates by reanalysis of WES data in patients without an initial molecular diagnosis. Methods: A total of 90 probands with ocular anomalies of suspected genetic origin were ascertained. Patients underwent WES in leukocytic DNA. Bioinformatics analysis and Sanger sequencing were used to confirm the disease-causing variants. Only variants identified as pathogenic or likely pathogenic were considered as causal. Results: Initial analysis revealed causal mutations in 46 cases (51%). Reanalysis of WES data 12 months after first analysis resulted in the identification of additional causal variants in 6 patients (7%), increasing the molecular diagnostic yield to 58%. The highest diagnostic rates by disease categories corresponded to hereditary retinal dystrophies (77%) and to anomalies of the anterior segment of the eye (47%). Conclusion: Our study demonstrates that WES is an effective approach for genetic diagnosis of genetic ocular diseases and that reanalysis of WES data can improve the diagnostic yield.
ABSTRACT
Objetivo: conocer la evolución a un año de las pacientes a quienes se les ha realizado tratamiento quirúrgico laparoscópico de la endometriosis profunda infiltrante. Metodología: cohorte de 24 pacientes con edades comprendidas entre 22 y 51 años a quienes se les realizó tratamiento quirúrgico de la endometriosis profunda infiltrante en la Unidad de Endoscopia Ginecológica de la Clínica del Prado y Profamilia, en Medellín, entre septiembre del 2007 y febrero del 2008. Se evaluaron las variables sociodemográficas, síntomas dolorosos, localización anatómica de la endometriosis profunda infiltrante, características de la lesión, tratamiento, tiempo quirúrgico, complicaciones. Resultados: se presentó una lesión de recto como única complicación en esta serie (4,1%). Hubo una disminución estadísticamente significativa de los síntomas dolorosos. Tres pacientes (12%) tuvieron recurrencias al año de seguimiento. Conclusión: el tratamiento laparoscópico de la endometriosis profunda infiltrante surge como una alternativa para el tratamiento de la endometriosis infiltrativa profunda.
Objective: making a one-year evaluation of the evolution of patients who underwent laparoscopic surgery for treating deep infiltrating endometriosis.Methodology: a cohort of twenty-four patients aged between 22 and 51 was included; they had had been diagnosed as suffering from deep infiltrating endometriosis. This took place in Clínica del Prados gynaecological endoscopy unit and in Profamilia in Medellín between September 2007 and February 2008. Minimally invasive treatment was undertaken with one-year follow-up. The following variables were evaluated: sociodemographic data, painful symptoms, anatomical localization of deep infiltrating endometriosis, lesion characteristics, surgical treatment, surgical time and complications. Results: colonic lesion was the only complication reported in this series (4.1%). There was a statistically significant reduction in painful symptoms. Three patients (12%) suffered recurrences during the year-long follow-up. Conclusions: laparoscopic treatment of deep infiltrating endometriosis is an option which alleviates the painful symptoms of endometriosis.