RESUMEN

Dyskeratosis congenita and its variants have overlapping phenotypes with many disorders including Coats plus, and their underlying pathology is thought to be one of defective telomere maintenance. Recently, biallelic CTC1 mutations have been described in patients with syndromes overlapping Coats plus. CTC1, STN1 and TEN1 are part of the telomere-capping complex involved in maintaining telomeric structural integrity. Based on phenotypic overlap we screened 73 genetically uncharacterized patients with dyskeratosis congenita and related bone marrow failure syndromes for mutations in this complex. Biallelic CTC1 mutations were identified in 6 patients but none in either STN1 or TEN1. We have expanded the phenotypic spectrum associated with CTC1 mutations and report that intracranial and retinal abnormalities are not a defining feature, as well as showing that the effect of these mutations on telomere length is variable. The study also demonstrates the lack of disease-causing mutations in other components of the telomere-capping complex.

Asunto(s)

RESUMEN

OBJECTIVE: To describe and identify those factors associated with remission on pemphigus vulgaris (PV) patients in Puerto Rico. METHODS: This retrospective cohort study evaluated PV patients followed at the University Puerto Rico (UPR) Bullous Diseases Clinic during the 2000-2010 period. Patients included in the study had clinical and pathologic findings consistent with PV and had a disease duration of at least 3 years. Variables including gender, date of birth, time of disease onset, and date of first partial or complete remission were collected from the medical chart for each study participant. The primary outcome was to determine the number of patients who achieved partial or complete remission. Other secondary outcomes were to identify if partial/complete remission were associated to gender, disease duration, and age at onset of disease. RESULTS: Among 35 patients included in this study, 6 (17%) achieved complete remission and 28 (80%) achieved partial remission. A statistically-significant association was found between duration of disease and remission, predicting a 52% probability of remission after ten years of disease duration. Age at onset of disease showed a trend association with remission, although it was not statistically significant. Gender was not associated with remission. CONCLUSION: These findings provide insights into the clinical course of PV and can be of value in the management and care of this patient population.

Asunto(s)

RESUMEN

Spitz nevus is an uncommon melanocytic nevus distinctive by its epithelioid and spindled melanocytes. Many studies have attempted to characterize Spitz nevus, but none of them in a Hispanic population. Our aim is to characterize the clinical and histopathological presentation of the Spitz nevus in a Hispanic population. A retrospective study was carried out from our files that included those cases histopathologically diagnosed as Spitz nevus. A blinded examination was performed to evaluate the histopathological characteristics of 130 lesions. The demographics of the patients, the anatomic location, and the accuracy of the clinical diagnosis were analyzed. Eighty-one females and 49 males (ratio of 1.7:1) were included in the study. The mean age was 18.8 years. Overall, the most common location was the lower extremities (41%), followed by the upper extremities (27%), trunk (16%), and head and neck (16%). The nevi followed a similar anatomic distribution in females and males. The lesions were clinically diagnosed with accuracy in 20% of the cases and characterized as a pigmented papule in 42% of the cases. Upon histopathological evaluation, most nevi exhibited symmetry (84%), were well circumscribed (91%), and exhibited epidermal hyperplasia (69%). The junctional type was seen in 42% of the cases, the compound type in 38%, and the dermal type in 20%. Sixty-eight percent of nevi were mostly composed of epithelioid melanocytes, the spindled-shaped melanocytes predominated in 17% of cases, and 12% were composed of both epithelioid and spindled-shaped melanocytes. Multinucleated melanocytes were seen in 7% of nevi, mostly in the epithelioid Spitz nevus (67%). Abundant melanin was observed in 51 cases, from which the most common variant was the classic Spitz nevi. The typical dull eosinophilic globules (Kamino bodies) were observed in a minority of the cases (11%), mostly in the classic Spitz nevus. The most common variant was the classic Spitz nevus (65%), followed by the dermal Spitz nevus (15%). In conclusion, Spitz nevus in a Hispanic population most commonly presents as a pigmented papule on the lower extremities irrespective of sex and age. It is characterized by a melanocytic proliferation most commonly composed of nested epithelioid melanocytes in a junctional or compound arrangement, with the presence of abundant melanin.

Asunto(s)

RESUMEN

OBJECTIVE: To determine the causes of non-participation in a breast cancer early detection program for women in the northern area of Almería (Spain). METHODS: We performed a case-control study. A sample of women included in a breast cancer early detection program between October 2002 and February 2004 was chosen. Participants were interviewed about family, sociodemographic and program-related variables (knowledge, accessibility, attitudes), family and personal history, and health status. Possible differences among women who attended the program and those who did not were analyzed through bivariate analysis and multivariate logistic regression. Odds ratio (OR) and 95% confidence interval (95%CI) were calculated. RESULTS: A total of 720 questionnaires were completed (350 cases and 370 controls) and 291 women (40.4% of the sample) were replaced. The variables found to be independently associated with non-participation in the program were as follows: not receiving a letter (OR=11.2; 95%CI: 4.6-26.9), undergoing mammography outside the program (OR=4.4; 95%CI: 2.8-6.9), not having illnesses requiring medical examinations (OR=2; 95%CI: 1.3-3), and expressing fear of the result of mammography (OR=1.8; 95%CI: 1.2-2.6). CONCLUSIONS: Women who did not receive a letter or who underwent mammography outside the program had a greater risk of not attending the program, hence the need to improve the quality of the database. Awareness of the program should be increased among women and health education should be provided to women fearing the outcome.

Asunto(s)

RESUMEN

Objetivo: Conocer las causas de no participación en el Programa de Detección Precoz de Cáncer de Mama (PDPCM) en mujeres del Área de Gestión Sanitaria Norte de Almería. Métodos: Estudio de casos y controles. Se eligió una muestra de mujeres invitadas a participar en el PDPCM, entre octubre de 2002 y febrero de 2004. Se recogieron las variables sociodemográficas y las cargas familiares, las variables relacionadas con el programa (conocimiento, accesibilidad, actitudes), los antecedentes familiares y personales, y el estado de salud. Se analizó si había diferencias entre las mujeres que acudieron al programa y las que no, mediante análisis bivariado, y multivariado mediante regresión logística. Se calculó la odds ratio (OR) y su intervalo de confianza del 95% (IC95%). Resultados: Se realizaron 720 encuestas 350 casos y 370 controles. Se sustituyó a 291 mujeres (un 40,4% de la muestra). Las variables que de forma independiente se encontraron asociadas a no acudir al programa fueron no recibir carta (OR=11,2; IC95%: 4,6¿26,9), haberse realizado mamografía fuera del programa (OR=4,4; IC95%: 2,8¿6,9), no tener enfermedades que requieren revisiones médicas (OR=2; IC95%: 1,3¿3) y manifestar miedo al resultado de la mamografía (OR=1,8; IC95%: 1,2¿2,6). Conclusiones: Se ha encontrado un mayor riesgo de no acudir al programa en las mujeres que no han recibido carta o que tienen una mamografía realizada fuera del programa, y de ahí la necesidad de mejorar la depuración de la base de datos. Hay que seguir divulgando el programa y realizando educación sanitaria en las mujeres con miedo al resultado(AU)

Objective: To determine the causes of non-participation in a breast cancer early detection program for women in the northern area of Almería (Spain). Methods: We performed a case-control study. A sample of women included in a breast cancer early detection program between October 2002 and February 2004 was chosen. Participants were interviewed about family, sociodemographic and program-related variables (knowledge, accessibility, attitudes), family and personal history, and health status. Possible differences among women who attended the program and those who did not were analyzed through bivariate analysis and multivariate logistic regression. Odds ratio (OR) and 95% confidence interval (95%CI) were calculated. Results: A total of 720 questionnaires were completed (350 cases and 370 controls) and 291 women (40.4% of the sample) were replaced. The variables found to be independently associated with non-participation in the program were as follows: not receiving a letter (OR=11.2; 95%CI: 4.6¿26.9), undergoing mammography outside the program (OR=4.4; 95%CI: 2.8¿6.9), not having illnesses requiring medical examinations (OR=2; 95%CI: 1.3¿3), and expressing fear of the result of mammography (OR=1.8; 95%CI: 1.2¿2.6). Conclusions: Women who did not receive a letter or who underwent mammography outside the program had a greater risk of not attending the program, hence the need to improve the quality of the database. Awareness of the program should be increased among women and health education should be provided to women fearing the outcome(AU)

Asunto(s)

RESUMEN

Evidence-based medicine (EBM) is defined as "the process of systematically finding, appraising and using contemporaneous research findings as the basis for clinical decisions". Although EBM has been extensively described across the Americas and Europe, no study has looked at the practice of EBM in Puerto Rico. A cross-sectional analysis based on a 23-item questionnaire was employed. We showed that there is a high use (88%) and familiarity (93%) with EBM, and that physicians keep a positive attitude towards EBM (80%) in Puerto Rico. There is an over-representation of academicians (58.9% vs. 34.6%, p = 0.02) and an under-representation of solo office practitioners (10.5% vs. 26.9%, p = 0.03) among EBM users. Additionally, patient workload (48%), time constraints (36%), and limited access to the Internet (28%) were the most frequently cited obstacles to the practice of EBM in Puerto Rico. Taken together, these results help create a cross-sectional profile of EBM practice among Puerto Rican physicians.

Asunto(s)