Telomerase activity associated with progression of cervical lesions in a group of Colombian patients.

PURPOSE To analyze the relation between the cytological findings and telomerase activity (TA). METHODS Cervical samples were evaluated and classified according to the Bethesda System. Telomerase activity was measured total product generated values (TPG) using the TRAP assay (telomeric repeat amplification protocol); data were analyzed statistically using the χ2 test, with the level of significance set at p<0.05. RESULTS The study was conducted on 102 patients. Of these, 3.9% showed normal cytological findings, 8.8% showed cervicitis; 2% showed Atypical Squamous Cells of Undetermined Significance (ASCUS); 67.6% showed Low Grade Squamous Intraepithelial Lesion (LSIL); 11.8% showed High Grade Squamous Intraepithelial Lesion (H-SIL) and 5.9% showed Squamous Carcinoma. Among telomerase-positive samples, the TPG values were cervicitis

Telomerase activity associated with progression of cervical lesions in a group of Colombian patients / Associação da atividade da telomerase com a progressão de lesões cervicais em um grupo de pacientes da Colômbia

Abstract PURPOSE To analyze the relation between the cytological findings and telomerase activity (TA). METHODS Cervical samples were evaluated and classified according to the Bethesda System. Telomerase activity was measured total product generated values (TPG) using the TRAP assay (telomeric repeat amplification protocol); data were analyzed statistically using the χ2 test, with the level of significance set at p<0.05. RESULTS The study was conducted on 102 patients. Of these, 3.9% showed normal cytological findings, 8.8% showed cervicitis; 2% showed Atypical Squamous Cells of Undetermined Significance (ASCUS); 67.6% showed Low Grade Squamous Intraepithelial Lesion (LSIL); 11.8% showed High Grade Squamous Intraepithelial Lesion (H-SIL) and 5.9% showed Squamous Carcinoma. Among telomerase-positive samples, the TPG values were cervicitis<normal<ASCUS<L-SIL<H-SIL<Carcinoma. CONCLUSION Results show increased telomerase activity with increasing severity of lesion, supporting the association between TA and type of lesion.

Resumo OBJETIVO Analisar a relação entre os achados citológicos e atividade da telomerase (AT). MÉTODOS Amostras cervicais foram avaliadas e classificadas pelo sistema Bethesda. A AT foi medida como valores de produto total gerado (PTG), utilizando o protocolo de amplificação repetida da telomerase (TRAP); os dados foram analisados estatisticamente usando o teste do χ2, com nível de significância de p<0,05. RESULTADOS Cento e dois pacientes foram analisados: 3,9% com achados citológicos normais, 8,8% com cervicite, 2% com células escamosas atípicas de significado indeterminado (ASCUS), 67,6% com lesão escamosa intraepitelial baixo grau (LEI-BG), 11,8 % com lesão intraepitelial escamosa alto grau (LEI-AG) e 5,9% com carcinoma escamoso. Valores PTG para amostras positivas AT foram: cervicite<normal<ASCUS<LEI-BG<LEI-AG<Carcinoma. CONCLUSÃO Os resultados mostram um aumento na AT com o aumento da lesão, sustentando a associação entre a AT e o tipo de lesão.

Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson's Disease Patients.

INTRODUCTION: Mutations in the leucine-rich repeat kinase 2 gene (LRRK2 or Dardarin) are considered to be a common cause of autosomal dominant and sporadic Parkinson´s disease, but the prevalence of these mutations varies among populations. OBJECTIVE: to analyzed the frequency of the LRRK2 p.G2019S mutation (c.6055 G>A transition) in a sample of Colombian patients. METHODS: In the present study we have analyzed the frequency of the LRRK2 p.G2019S mutation in 154 patients with familial or sporadic Parkinson Disease, including early and late onset patients, and 162 normal controls. RESULTS: Our results show occurrence of this mutation in two cases (2/154, 1.3%) with classical Parkinson´s signs, and one completely asymptomatic control (1/162, 0.6%). CONCLUSION: The p.G2019S mutation is not an important causal factor of Parkinson Disease in Colombia having similar frequencies to those reported in other Latin American populations.

INTRODUCCIÓN: Mutaciones en el LRRK2 (del inglés gen leucine-rich repeat kinase 2) o Dardarina se consideran una causa común de enfermedad de Parkinson autosómica dominante. Sin embargo, la prevalencia de estas mutaciones varia en diferentes poblaciones. OBJETIVO: analizar la frecuencia de la mutación p.G2019S (transición c.6055 G>A) del gen LRRK2en una muestra de pacientes colombianos. MÉTODOS: En el presente estudio analizamos la frecuencia de la mutación en 154 pacientes con enfermedad de Parkinson familiar o esporádica, y 162 controles normales. RESULTADOS: se determinó la presencia de la mutación en 2 casos de Parkinson (2/154, 1.3%) los cuales presentan los signos clásicos de la enfermedad y en un control completamente asintomático (1/162, 0.6%). CONCLUSIÓN: La mutación p.G2019S no es un factor causal importante de la Enfermedad de Parkinson en la población Colombiana, y muestra frecuencias similares a las reportadas en otras poblaciones latinoamericanas.

Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson's Disease Patients / Análisis de la mutación p.G2019S del gen LRRK2 en pacientes colombianos con enfermedad de Parkinson

Introduction: Mutations in the leucine-rich repeat kinase 2 gene (LRRK2 or Dardarin) are considered to be a common cause of autosomal dominant and sporadic Parkinson's disease, but the prevalence of these mutations varies among populations. Objective: To analyzed the frequency of the LRRK2 p.G2019S mutation (c.6055G>A transition) in a sample of Colombian patients. Methods: In the present study we have analyzed the frequency of the LRRK2 p.G2019S mutation in 154 patients with familial or sporadic Parkinson Disease, including early and late onset patients, and 162 normal controls. Results: Our results show occurrence of this mutation in two cases (2/154, 1.3%) with classical Parkinson's signs, and one completely asymptomatic control (1/162, 0.6%). Conclusion: The p.G2019S mutation is not an important causal factor of Parkinson Disease in Colombia having similar frequencies to those reported in other Latin American populations.

Introducción: Las mutaciones en el LRRK2 (del inglés gen leucinerich repeat kinase 2) o Dardarina se consideran una causa común de enfermedad de Parkinson autosómica dominante. Sin embargo, la prevalencia de estas mutaciones varia en diferentes poblaciones. Objetivo: Snalizar la frecuencia de la mutación p.G2019S (transición c.6055 G>A) del gen LRRK2en una muestra de pacientes colombianos. Métodos: En el presente estudio analizamos la frecuencia de la mutación en 154 pacientes con enfermedad de Parkinson familiar o esporádica, y 162 controles normales. Resultados: Se determinó la presencia de la mutación en 2 casos de Parkinson (2/154, 1.3%) los cuales presentan los signos clásicos de la enfermedad y en un control completamente asintomático (1/162, 0.6%). Conclusión: La mutación p.G2019S no es un factor causal importante de la Enfermedad de Parkinson en la población Colombiana, y muestra frecuencias similares a las reportadas en otras poblaciones latinoamericanas.

Negative pleural suction in thoracic trauma patients: A randomized controlled trial.

BACKGROUND: The study aimed to establish the benefits of using chest tubes with negative pleural suction against trapped water in patients with penetrating or blunt chest trauma who underwent tube thoracostomy, in terms of the incidence of complications, such as persistent air leak, clotted hemothorax, empyema, and duration of stay. METHODS: Patients who underwent tube thoracostomy because of traumatic pneumothorax, hemothorax, or hemopneumothorax were randomly assigned into one of two groups: in Group 1, the three-bottle drainage system was connected to a negative suction; in Group 2, no suction was given. Patients who required mechanical ventilation or emergency surgery (thoracotomy or thoracoscopy) either at the time of admission to the institution or immediately after the tube thoracostomy, patients who had histories of thoracic procedures or chronic pulmonary diseases (chronic obstructive pulmonary disease, diffuse interstitial lung disease), and patients with multiple injuries with severe traumatic brain injury and a Glasgow Coma Scale (GCS) score less than 8 of 15 were excluded from the study. Hospital stay, duration of tube thoracostomy, prolonged fistula, and other clinical variables were compared. RESULTS: One hundred ten patients were included, 56 in the group with suction and 54 in the group without suction. There were no differences in the demographic characteristics of each group. There were no differences between the groups in terms of hospital stay (p = 0.22), duration of tube thoracostomy (p = 0.35) (3 days in each group), or complications. However, the probability of air leak presence in time was greater for the Group 1 patients with negative suction versus the Group 2 patients (p = 0.023). CONCLUSION: The use of negative pleural suction did not demonstrate advantages over the three-bottle chest drainage system without suction in patients with uncomplicated traumatic pneumothorax, hemothorax, or hemopneumothorax. LEVEL OF EVIDENCE: Therapeutic study, level II.