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1.
Rev Neurol ; 76(9): 287-293, 2023 05 01.
Artículo en Español | MEDLINE | ID: mdl-37102253

RESUMEN

INTRODUCTION: Sleep disorders and chronic pain are linked to each other bidirectionally. Both are related to affective disorders, fatigue, depression, anxiety and drug abuse, and have a significant effect on quality of life. The Interdisciplinary Pain Programme (IDP) aims to relieve the patients' pain and improve their functionality by incorporating healthy postural, sleep and nutritional habits, relaxation techniques, physical exercise and cognitive-behavioural mechanisms. PATIENTS AND METHODS: A retrospective, observational, cross-sectional study was conducted. A total of 323 patients with chronic pain who completed the IDP were examined. They were assessed at the beginning and at the end of the programme with pain, depression, quality of life and insomnia scales, and were then compared between groups with and without insomnia, that is, with an insomnia severity index (ISI) less than 15 versus greater than or equal to 15. Fifty-eight patients were studied by means of polysomnography. RESULTS: A significant improvement (p < 0.0001) in pain, depression and quality of life, as assessed by the visual analogue scale (VAS), the Beck inventory and the Short Form-36 (SF-36) questionnaire was observed in chronic pain patients with an ISI below 15 and in those with an ISI greater than or equal to 15. The results were superior in the group of patients with insomnia. The presence of a high apnoea and hypopnoea index and periodic lower limb movements in patients was not related to improvements on the Beck, SF-36, ISI and VAS scales. CONCLUSIONS: In conclusion, IDP benefits patients with chronic non-cancer-induced pain in several affected areas, in addition to pain, due to a comprehensive treatment. Polysomnography can help diagnose specific pathologies and individualise pharmacological treatment.


TITLE: Impacto del Programa de Rehabilitación Interdisciplinario de Dolor Crónico en pacientes sin y con trastornos del sueño.Introducción. Los trastornos del sueño y el dolor crónico están relacionados bidireccionalmente. Ambos están relacionados con trastornos afectivos, fatiga, depresión, ansiedad y abuso de fármacos, y afectan significativamente a la calidad de vida. El objetivo del Programa Interdisciplinario de Dolor (PRID) es aliviar el dolor del paciente y mejorar su funcionalidad a través de la incorporación de hábitos posturales, del sueño y nutricionales saludables, técnicas de relajación, ejercicio físico y mecanismos cognitivoconductuales. Pacientes y métodos. Se realizó un estudio retrospectivo, observacional y transversal. Se examinó a 323 pacientes con dolor crónico que completaron el PRID. Se les evaluó al principio y al final del programa con escalas de dolor, depresión, calidad de vida e insomnio, y se les comparó entre grupos con y sin insomnio ­índice de gravedad del insomnio (ISI) menor de 15 frente a mayor o igual a 15­. Se estudió a 58 pacientes con polisomnografía. Resultados. Se observó una mejoría significativa (p < 0,0001) del dolor, la depresión y la calidad de vida evaluados mediante la escala analógica visual (EVA), el inventario de Beck y el cuestionario Short Form-36 (SF-36), tanto en pacientes con dolor crónico con ISI menor de 15 como ISI mayor o igual a 15. Los resultados fueron superiores en el grupo de pacientes con insomnio. La presencia de un índice de apneas e hipopneas elevado y movimientos periódicos de los miembros inferiores en los pacientes no se relacionó con la mejoría de las escalas de Beck, SF-36, ISI y EVA. Conclusiones. En conclusión, el PRID beneficia a los pacientes con dolor crónico no oncológico en varias esferas afectadas, además del dolor, mediante un tratamiento integral. La polisomnografía puede ayudar a diagnosticar patologías específicas e individualizar el tratamiento farmacológico.


Asunto(s)
Dolor Crónico , Trastornos del Inicio y del Mantenimiento del Sueño , Trastornos del Sueño-Vigilia , Humanos , Calidad de Vida , Trastornos del Inicio y del Mantenimiento del Sueño/etiología , Estudios Transversales , Estudios Retrospectivos , Trastornos del Sueño-Vigilia/etiología , Trastornos del Sueño-Vigilia/terapia
2.
Urol Int ; 88(3): 271-6, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22378354

RESUMEN

OBJECTIVE: The aim of this study was to develop a postoperative prognostic nomogram for disease-free survival in patients with renal adenocarcinoma. MATERIALS AND METHODS: A total of 224 patients with organ-confined or locally advanced renal adenocarcinoma were treated with radical or partial nephrectomy. The variables included in the model were age, histological type, pathological stage, Fuhrman grade and DNA ploidy. Tumor recurrence was defined as any clinical evidence of recurrence. The probability of progression-free survival was calculated using the Kaplan-Meier estimate, and multivariate analysis was performed using a Cox regression. The nomogram was created using the data obtained from the Cox regression. RESULTS: Tumor recurrence was detected in 89 patients (39.74%). The median progression-free time in these patients was 9.55 months (range 0-133). Of these patients, 70.9% relapsed during the first 2 years, and only 15 patients (6.9%) were alive but ill at the end of the study. The probability of progression-free survival at 5 and 10 years was 66.64 and 61.97%, respectively. We performed a statistical validation of the model with accurate predictions that were discriminated with a confidence interval of 0.75 (comparing the predicted and actual probability). According to the nomogram obtained, patients with low-grade, diploid, organ-confined tumors would be candidates for follow-up not exceeding 5 years due to the low probability of recurrence (<40 points). CONCLUSION: The nomogram we developed is clinically relevant and can provide prognostic information for both patients and researchers. In addition, it can be used by researchers during the monitoring protocols that categorize patients based on their relative risk of disease progression.


Asunto(s)
Adenocarcinoma/cirugía , Neoplasias Renales/cirugía , Nefrectomía , Nomogramas , Adenocarcinoma/genética , Adenocarcinoma/mortalidad , Adenocarcinoma/secundario , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Distribución de Chi-Cuadrado , Intervalos de Confianza , Supervivencia sin Enfermedad , Femenino , Humanos , Estimación de Kaplan-Meier , Neoplasias Renales/genética , Neoplasias Renales/mortalidad , Neoplasias Renales/patología , Masculino , Persona de Mediana Edad , Análisis Multivariante , Clasificación del Tumor , Recurrencia Local de Neoplasia , Estadificación de Neoplasias , Nefrectomía/efectos adversos , Nefrectomía/mortalidad , Ploidias , Modelos de Riesgos Proporcionales , Reproducibilidad de los Resultados , Medición de Riesgo , Factores de Riesgo , España , Factores de Tiempo , Resultado del Tratamiento , Carga Tumoral
3.
Actas Urol Esp ; 32(9): 873-8, 2008 Oct.
Artículo en Español | MEDLINE | ID: mdl-19044296

RESUMEN

INTRODUCTION: Radical prostatectomy represents a standard surgical treatment for clinically localized prostate cancer. Classically pathologist and urologist worried about positive surgical margin, but not to the presence of surgery residual hyperplastic cells able to generate prostate specific antigen (PSA) and difficult the follow up of the patients that underwent surgery. We reviewed the literature looking for the incidence, the potential etiology and the influence of these hyperplastic cells in the biochemical evolution of the disease. MATERIAL AND METHOD: The information for this review was compiled by searching the Pubmed database. We used "Mesh", Prostatectomy" and "Prostatic Neoplasms" and "Prostate-Specific Antigen" terms, and we added "biochemical failure" and/or "hyperplasic cells" and/or "benign cells". Furthermore, we select the work in English, Spanish and German, review articles that referenced this work and include the series with more than 50 patients, letters to the editor, editorials and overall reviews. CONCLUSIONS: Benign hyperplasic cells left behind after radical prostatectomy are frequent and probably under-rated. The influence of those cells in the biochemical outcome is a controversial issue. Positive margins for benign cells can come from apex or neck of the bladder, where the prostatic capsule is not well defined, but no from dorso-lateral area, this would imply a technical mistake. We recommend the inspection of the specimen by the surgeon, after prostatectomy in order to detect apex integrity, cranial and dorso-lateral capsule.


Asunto(s)
Próstata/patología , Neoplasias de la Próstata/patología , Neoplasias de la Próstata/cirugía , Humanos , Hiperplasia/patología , Masculino
4.
Actas Urol Esp ; 32(2): 246-8, 2008 Feb.
Artículo en Español | MEDLINE | ID: mdl-18409476

RESUMEN

We describe the case of a 43 years old woman with obstructive and irritative symptoms after having an hysterectomy. Bladder outlet obstruction was observed in an urodinamyc study. She was later diagnosed with left hidrosalpinx. Salpingectomy was performed, as a result all symptoms have disap-


Asunto(s)
Enfermedades de las Trompas Uterinas/complicaciones , Obstrucción del Cuello de la Vejiga Urinaria/etiología , Adulto , Enfermedades de las Trompas Uterinas/etiología , Femenino , Humanos , Histerectomía/efectos adversos
5.
Actas Urol Esp ; 40(1): 64-7, 2016.
Artículo en Inglés, Español | MEDLINE | ID: mdl-26296279

RESUMEN

OBJECTIVE: There is the possibility of diagnosing azoospermia in cases of testicular tumours in patients who wish to preserve fertility. Our objective is to present a technique for obtaining spermatozoa from testicles with ex vivo tumours in order to preserve fertility in these patients. MATERIAL AND METHODS: A 34-year-old patient was referred for azoospermia. The physical examination revealed a node in the lower pole of the left testicle. In the scrotal ultrasound, the testicle presented disperse microcalcifications and a 1-cm hypoechoic mass in the lower pole. The tumour markers were negative, and the CT showed no distant disease. Left radical orchiectomy was performed, along with the placement of a testis prosthesis. Bench surgery was then performed, with extraction of the seminiferous tubules in the upper pole. RESULTS: Of the submitted samples, 4 progressive and 1 nonprogressive motile spermatozoa were identified per field. Two samples were cryopreserved. The pathological report indicated the presence of a seminoma measuring 1.3 × 1 cm, with free margins and with no invasion of the rete testis (stage I). An assisted reproduction technique (intracytoplasmic sperm injection) was performed on the patient's partner with the frozen spermatozoa, which resulted in pregnancy and the subsequent birth of a healthy child. CONCLUSION: We propose this technique as the method of choice for obtaining spermatozoa from patients who simultaneously present azoospermia and testicular tumours and who wish to preserve their fertility.


Asunto(s)
Azoospermia/etiología , Orquiectomía , Recuperación de la Esperma , Neoplasias Testiculares/complicaciones , Neoplasias Testiculares/cirugía , Adulto , Humanos , Masculino
6.
Eur J Gynaecol Oncol ; 9(5): 365-9, 1988.
Artículo en Inglés | MEDLINE | ID: mdl-2852104

RESUMEN

The Authors present the first known case of Malignant Mixed Müllerian Tumor arising in the cervix of a 12-year-old girl. This tumor is rare, and the histogenesis uncertain. The most common localization is in the uterine corpus. The size of the tumor is presented and also the most relevant microscopic characteristics. The course followed by the disease and the treatments performed are also discussed.


Asunto(s)
Neoplasias de Células Germinales y Embrionarias , Neoplasias del Cuello Uterino , Niño , Terapia Combinada , Femenino , Humanos , Estadificación de Neoplasias , Neoplasias de Células Germinales y Embrionarias/diagnóstico , Neoplasias de Células Germinales y Embrionarias/patología , Neoplasias de Células Germinales y Embrionarias/terapia , Pronóstico , Neoplasias del Cuello Uterino/diagnóstico , Neoplasias del Cuello Uterino/patología , Neoplasias del Cuello Uterino/terapia
7.
J Wildl Dis ; 37(4): 840-3, 2001 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-11763752

RESUMEN

Forty-seven wild boars (Sus scrofa) collected from two areas in the province of Valencia (eastern Spain) were examined for digestive and respiratory helminth parasites. Helminth species and their prevalence were Taenia hydatigena cysticercus (19%), Ascarops strongylina (87%), Physocephalus sexalatus (6%), Ascaris suum (2%), Metastrongylus spp. (85%), Capillaria sp. (2%) and Macracanthorhynchus hirudinaceus (21%). Trichinella spp. were not found. Physocephalus sexalatus, A. suum, Capillaria sp. and M. hirudinaceus were found only in wild boars collected from one area (National Hunting Reserve of Cortes de Pallás). Macracanthorhynchus hirudinaceus did not occur in hogs < 1-yr-old, whereas the intensity of Metastrongylus spp. infection was the greatest in this age group.


Asunto(s)
Helmintiasis Animal/epidemiología , Enfermedades de los Porcinos/epidemiología , Factores de Edad , Animales , Animales Salvajes , Heces/parasitología , Femenino , Intestinos/parasitología , Masculino , Prevalencia , España/epidemiología , Porcinos , Enfermedades de los Porcinos/parasitología , Vísceras/parasitología
9.
Arch Soc Esp Oftalmol ; 89(7): 282-5, 2014 Jul.
Artículo en Español | MEDLINE | ID: mdl-24485524

RESUMEN

CASE REPORT: A 43 year-old female presented with decreased visual acuity in the right eye. «Snowball-like¼ retinal lesions were found in both eyes on examination. Due to a lack of improvement with intravitreal antifungal empirical treatment, vitreous culture was performed and Candida glabrata was isolated. The patient then received intravitreal amphotericin B, as well as systemic treatment with caspofungin and amphotericin B lipid complex. DISCUSSION: Endogenous fungal endophthalmitis is a sight-threatening condition. There are few reports of Candida glabrata endogenous endophthalmitis. Treatment regimens for Candida endophthalmitis include combinations of systemic and/or intravitreal antifungals, as well as vitrectomy.


Asunto(s)
Candida glabrata , Candidiasis/etiología , Endoftalmitis/microbiología , Infecciones Fúngicas del Ojo/etiología , Gastroplastia/efectos adversos , Adulto , Candidiasis/patología , Endoftalmitis/patología , Infecciones Fúngicas del Ojo/patología , Femenino , Humanos
10.
Actas Urol Esp ; 38(10): 698-702, 2014 Dec.
Artículo en Inglés, Español | MEDLINE | ID: mdl-24954841

RESUMEN

OBJECTIVE: Aproximately 10% of patients with non-obstructive azoospermia and 5% with non-obstructive severe oligozoospermia carry AZF region microdeletions (AZoospermic Factor) in the Y chromosome. The aim of this study is to analize the clinical and pathological findings in this group of patients and compare them with the previous evidence. MATERIAL AND METHODS: Retrospective study of 11 patients with diagnosis of azoospermia or oligozoospermia and the presence of AZFa, AZFb, AZFc microdeletions or any combination of them. RESULTS: Microdeletions of AZFc region were found in 45% of cases, AZFa in 33% and a 10% showed a deletion of the three regions (a,b and c). 91% of them demonstrated azoospermia with low testicular volume in 62,5% cases. CONCLUSION: Microdeletions of AZF regions are associated with azoospermia and a low expectation of sperm retrieval in testicular biopsy. On the other hand, they seem not related with significative modifications on the hormone profile.


Asunto(s)
Azoospermia/genética , Deleción Cromosómica , Oligospermia/genética , Adulto , Humanos , Masculino , Estudios Retrospectivos
11.
Actas Urol Esp ; 38(10): 647-54, 2014 Dec.
Artículo en Inglés, Español | MEDLINE | ID: mdl-24930059

RESUMEN

OBJECTIVE: To apply new mathematical models according to Non Muscle Invasive Bladder Carcinoma (NMIBC) biological characteristics and enabling an accurate risk estimation of multiple recurrences and tumor progression. The classical Cox model is not valid for the assessment of this kind of events becausethe time betweenrecurrencesin the same patientmay be stronglycorrelated. These new models for risk estimation of recurrence/progression lead to individualized monitoring and treatment plan. MATERIALS AND METHODS: 960 patients with primary NMIBC were enrolled. The median follow-up was 48.1 (3-160) months. Results obtained were validated in 240 patients from other center. Transurethral resection of the bladder (TURB) and random bladder biopsy were performed. Subsequently, adjuvant localized chemotherapy was performed. The variables analyzed were: number and tumor size, age, chemotherapy and histopathology. The endpoints were time to recurrence and time to progression. Cox model and its extensions were used as joint frailty model for multiple recurrence and progression. Model accuracy was calculated using Harrell's concordance index (c-index). RESULTS: 468 (48.8%) patients developed at least one tumor recurrence and tumor progression was reported in 52 (5.4%) patients. Variables for multiple-recurrence risk are: age, grade, number, size, treatment and the number of prior recurrences. All these together with age, stage and grade are the variables for progression risk. Concordance index was 0.64 and 0.85 for multiple recurrence and progression respectively. CONCLUSION: the high concordance reported besides to the validation process in external source, allow accurate multi-recurrence/progression risk estimation. As consequence, it is possible to schedule a follow-up and treatment individualized plan in new and recurrent NMCB cases.


Asunto(s)
Carcinoma in Situ/epidemiología , Recurrencia Local de Neoplasia/epidemiología , Neoplasias de la Vejiga Urinaria/epidemiología , Anciano , Anciano de 80 o más Años , Carcinoma in Situ/patología , Progresión de la Enfermedad , Femenino , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Modelos Teóricos , Invasividad Neoplásica , Estudios Prospectivos , Medición de Riesgo/métodos , Neoplasias de la Vejiga Urinaria/patología
13.
Rev. mex. ing. bioméd ; 39(1): 113-120, ene.-abr. 2018. tab, graf
Artículo en Inglés | LILACS | ID: biblio-902388

RESUMEN

Abstract: In neuroimaging, brain tissue segmentation is a fundamental part of the techniques that seek to automate the detection of pathologies, the quantification of tissues or the evaluation of the progress of a treatment. Because of its wide availability, lower cost than other imaging techniques, fast execution and proven efficacy, Non-contrast Cerebral Computerized Tomography (NCCT) is the most used technique in emergency room for neuroradiology examination, however, most research on brain segmentation focuses on MRI due to the inherent difficulty of brain tissue segmentation in NCCT. In this work, three brain tissues were characterized: white matter, gray matter and cerebrospinal fluid in NCCT images. Feature extraction of these structures was made based on the radiological attenuation index denoted by the Hounsfield Units using fuzzy logic techniques. We evaluated the classification of each tissue in NCCT images and quantified the feature extraction technique in synthetic images from real tissues with a sensitivity of 92% and a specificity of 96% for images from cases with slice thickness of 1 mm, and 96% and 98% respectively for those of 1.5 mm, demonstrating the ability of the method as feature extractor of brain tissues.


Resumen: En neuroimagen, la segmentación de tejidos cerebrales es una parte fundamental de las técnicas que buscan automatizar la detección de patologías, la cuantificación de tejidos o la evaluación del progreso de un tratamiento. Debido a su amplia disponibilidad, menor costo que otras técnicas de imagen, rápida ejecución y eficacia probada, la tomografía computarizada cerebral sin contraste (TCNC) es la técnica mayormente utilizada en emergencias para el examen neurorradiológico, sin embargo, la dificultad inherente que representa la segmentación de los tejidos cerebrales, hace que la mayoría de las investigaciones sobre la segmentación del cerebro se centren en la resonancia magnética. En este trabajo se realizó la caracterización de tres tejidos cerebrales: sustancia blanca, sustancia gris y líquido cefalorraquídeo en imágenes TCNC. Dichas estructuras fueron caracterizadas con base en el índice de atenuación radiológica denotadas por las Unidades Hounsfield utilizando técnicas de lógica difusa. Se evaluó la caracterización de cada tejido en diversos cortes de TCNC y se cuantificó la técnica de extracción de características en imágenes sintéticas a partir de tejidos reales con una sensibilidad de 92% y una especificidad de 96% para tejidos en cortes de 1 mm de grosor y 96% y 98% para los de 1.5 mm demostrando la habilidad del método como extractor de características de los tejidos cerebrales.

14.
J Pediatr Urol ; 7(6): 650-3, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21435952

RESUMEN

OBJECTIVE: To evaluate the efficacy of a third endoscopic injection to correct vesicoureteral reflux (VUR). PATIENTS AND METHODS: This was a prospective study of 605 patients, of whom 42 (6.4%), involving 44 (4%) ureteral units, received a third injection. The results were analysed regarding VUR grade and aetiology, substance used, volume, location and morphology of the mound, presence of poor prognostic factors, the urologist's experience, and complications. RESULTS: The treatment resolved the VUR in 38 (86.4%) units, 22 of primary cause (91.6%) and 16 with anatomical/functional abnormalities (80%) (no significant difference; P = 0.26). There was also no significant difference in success rate with regard to the substance injected (P = 0.23), the degree of VUR (P = 0.76) or the volume injected (P = 0.17). The success rate was higher (96.9%) if a less experienced urologist had performed the previous procedure versus a more experienced urologist (54.5%), and this difference was significant (P < 0.005). There was one complication (haematuria) (2.3%). CONCLUSION: Third treatment presents a similar efficacy to first and second treatments, with a very low rate of complications, and could be indicated before open surgery.


Asunto(s)
Endoscopía , Inyecciones , Prótesis e Implantes , Reflujo Vesicoureteral/terapia , Niño , Preescolar , Dextranos/administración & dosificación , Dimetilpolisiloxanos/administración & dosificación , Femenino , Humanos , Ácido Hialurónico/administración & dosificación , Lactante , Masculino , Retratamiento , Insuficiencia del Tratamiento , Reflujo Vesicoureteral/fisiopatología
15.
Actas Urol Esp ; 35(4): 213-7, 2011 Apr.
Artículo en Español | MEDLINE | ID: mdl-21397987

RESUMEN

OBJECTIVE: To assess if the systematic use of double J ureteral catheters in ureteroneocystostomies of kidney transplants reduces the rate of complications. MATERIALS AND METHODS: Non-randomized prospective, comparative study of parallel groups in 194 kidney transplants. We established two equal groups, 111 patients with double J catheter and another of 83 catheter-free patients. We studied the incidence of complications between both groups by means of a univariate comparative study (X2 test)and a multivariate analysis (logistic regression). RESULTS: In the catheter group, the overall complications appeared in 22.2% as opposed to 43.3% of the catheter-free group (p=0.04). Depending on the ureteral transplant, complications appeared in 38.12% of the Paquin type reimplantation as opposed to the 20.3% in Lich-Gregoir (p=0.09). There was evidence of 1 (0.9%) urinary fistula in the catheter group as opposed to 5 (6%) in the catheter-free group (p=0.08), and 3 (2.7%) ureterovesical anastomosis stricture in the group with catheter against 7 (8.4%) of the catheter-free group (p=0.13). The multivariate analysis showed that not using the catheter increases the risk of suffering complications related to reimplantation (OR: 2.55; IC 95%, 1.37-4.75). The risk of fistula increased significantly when a catheter was not placed (OR 9.19, IC 95%, 1.01-84.7). There were no differences between the two groups as regards urinary tract infections; there were 3 (2.7%) in the catheter group and 1 (1.2%) in the catheter-free group (p=0,63). CONCLUSIONS: The placement of a double J catheter reduces complications related to ureteral reimplantation without increasing the morbidity associated with their use.


Asunto(s)
Trasplante de Riñón/métodos , Complicaciones Posoperatorias/prevención & control , Uréter , Cateterismo Urinario , Adulto , Anciano , Femenino , Supervivencia de Injerto , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Hemorragia Posoperatoria/epidemiología , Hemorragia Posoperatoria/etiología , Estudios Prospectivos , Reoperación , Reimplantación , Uréter/cirugía , Obstrucción Ureteral/epidemiología , Obstrucción Ureteral/etiología , Fístula Urinaria/epidemiología , Fístula Urinaria/etiología , Infecciones Urinarias/epidemiología , Adulto Joven
17.
Scand J Urol Nephrol ; 43(1): 92-3, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19085322

RESUMEN

This report presents a case of a 65-year-old male suffering from a penile cutaneous horn. This lesion is usually seen in sun-exposed areas and its occurrence on the penis is rare. One-third of cases of penile horns are associated with underlying malignancies. Standard treatment is electrosurgical excision with removal of a broad base.


Asunto(s)
Queratosis/complicaciones , Enfermedades del Pene/complicaciones , Anciano , Humanos , Masculino , Paraqueratosis/complicaciones , Enfermedades del Pene/patología , Pene/patología , Fimosis/complicaciones , Fimosis/cirugía
19.
Breast Cancer Res Treat ; 106(2): 255-62, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17262179

RESUMEN

The prevalence of unique and recurrent BRCA1 and BRCA2 pathogenic mutations and unclassified variants varies among different populations. Two hundred and thirty-six breast and/or ovarian cancer patients were analysed to clarify the role of these genes in the Basque Country. We also studied 130 healthy women from the general population from the same region. Fifteen different pathological mutations were found in 16 index cases: 10 truncating mutations, 4 missense mutations and 1 splicing mutation. c.3002_3003insT and c.5788_5789delGT, both in exon 11 of BRCA2 have not previously been described. No pathological mutations were found in cases of sporadic juvenile breast cancer. There are no recurrent mutations in our population; apart from the mutation c.9254_9258del5, which appears in only two index cases. We have also found a lot of variants whose effect is unknown. From these variants, 17 have not previously been described: 6 missenses, 6 synonymous and 5 alterations in intronic regions. We would like to highlight the fact that 14.3% of patients with 3 or more cases of breast cancer in the family, and 16.7% of patients with family history of breast and ovarian cancer, present a pathological mutation in BRCA1 or BRCA2. This manuscript demonstrates that each population can have different mutations and due to this, Genetic Counselling and selection criteria must be different for each population. Furthermore, this article describes for the first time some new mutations and unclassified variants found in our population.


Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/genética , Asesoramiento Genético , Mutación de Línea Germinal/genética , Neoplasias Ováricas/genética , Adulto , Empalme Alternativo/genética , Proteínas Reguladoras de la Apoptosis , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/psicología , Codón sin Sentido/genética , ADN de Neoplasias/genética , ADN de Neoplasias/metabolismo , Femenino , Mutación del Sistema de Lectura , Pruebas Genéticas , Humanos , Masculino , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/psicología , Vigilancia de la Población , ARN Mensajero/genética , ARN Mensajero/metabolismo , ARN Neoplásico/genética , ARN Neoplásico/metabolismo , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Factores de Riesgo , España/epidemiología
20.
Eur J Vasc Endovasc Surg ; 30(1): 57-62, 2005 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-15933984

RESUMEN

OBJECTIVES: To determine clinical parameters that could predict occult vascular lesions (OVL) in patients with symptomatic atherosclerosis. PATIENTS AND METHODS: Prospective evaluation of 269 consecutive patients with symptomatic atherosclerosis (cerebral 32%, peripheral vascular 15%, and coronary 53%): complete laboratory, ultrasound exams (carotids, aorta, heart), ankle-brachial index. OVL were defined as: abdominal aortic aneurysm, carotid artery stenosis > 50%, or left ventricular segmental contraction abnormalities when affecting a different vascular bed from the symptomatic. Clinical predictors of OVL were evaluated by logistic regression analysis. RESULTS: OVL were found in 35 patients (13%): 12 abdominal aortic aneurysms, 21 carotid artery stenosis and 15 segmental left ventricular contraction abnormalities. OVL were associated with peripheral vascular disease (intermittent claudication or reduced ankle-brachial index), cigarette smoking, increased pulse pressure, microalbuminuria and hyperhomocysteinemia. By multivariate analysis, intermittent claudication (odds ratio 5.8; 95% CI 2.6-12.8) and microalbuminuria (OR 4.2; 95% CI 1.7-10.5) were strong independent predictors of OVL. Similar results were obtained when peripheral vascular disease was defined as reduced ankle-brachial index (OR 5.3; 95% CI 2.4-11.7). CONCLUSIONS: Clinical and subclinical peripheral vascular disease, as well as microalbuminuria are strong independent predictors of OVL in atherosclerotic patients. A screening study of OVL may be warranted in these patients.


Asunto(s)
Aneurisma de la Aorta Abdominal/complicaciones , Estenosis Carotídea/complicaciones , Claudicación Intermitente/etiología , Disfunción Ventricular Izquierda/complicaciones , Albuminuria/complicaciones , Aneurisma de la Aorta Abdominal/diagnóstico , Estenosis Carotídea/diagnóstico , Ecocardiografía , Femenino , Estudios de Seguimiento , Humanos , Hiperhomocisteinemia/complicaciones , Claudicación Intermitente/diagnóstico , Masculino , Persona de Mediana Edad , Contracción Miocárdica/fisiología , Valor Predictivo de las Pruebas , Estudios Prospectivos , Factores de Riesgo , Ultrasonografía Doppler Dúplex , Disfunción Ventricular Izquierda/diagnóstico , Disfunción Ventricular Izquierda/fisiopatología
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