RESUMEN
OBJECTIVE: To evaluate the phenotype and genotype characteristic of patients included in the Andalusian Registry for familial adenomatous polyposis, the genotype/phenotype correlation and the impact of Registry in the frequency of colorectal cancer of registered. MATERIAL AND METHODS: A descriptive study of 77 patients with FAP belonging to 33 families, included in a centralized database visited by the physicians of the hospitals taking part in the present study, on prior signing of confidentiality letters. All genetic studies were carried out in the Immunology Service of our institution. RESULTS: We have included in our study 77 patients of 33 families; 31 probands with a mean age of 32 years (13-51) and 46 relatives at risk with a mean age of 21.8 years (6-55). Genetic study informed in 68/77 with positive result in 92.6%. Ten probands showed colorectal cancer (CRC) at the time of diagnosis (32.2%). Only two affected relatives showed CRC at diagnosis (4.3%), a statistically significant difference (p < 0.05). Gastrointestinal involvement was observed in 30/61 (49%), desmoid tumors in 7/77 (9.1%) and congenital hypertrophy of the retinal pigment epithelium in 23/55 (65.7%). 86.7% of patients with this alteration showed mutations between codons 454 and 1019, with a statistically significant correlation ((p < 0.05). CONCLUSIONS: The registry has facilitated the genetic diagnosis for all affected families disregard their province of origin. It has also improved the screening of affected relatives and has made it possible to take preventive measures immediately, therefore diminishing the incidence of CRC at diagnosis in registered affected relatives. The correlation between congenital hypertrophy of the retinal pigment epithelium with some mutations is the only phenotypic-genotypic correlation with statistical significance.
Asunto(s)
Poliposis Adenomatosa del Colon/genética , Poliposis Adenomatosa del Colon/epidemiología , Adolescente , Adulto , Niño , Neoplasias Colorrectales/epidemiología , Neoplasias Colorrectales/genética , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Sistema de Registros , España , Adulto JovenAsunto(s)
Anemia Hemolítica Autoinmune/tratamiento farmacológico , Anticuerpos Monoclonales/efectos adversos , Anticuerpos Monoclonales/uso terapéutico , Colitis Ulcerosa/complicaciones , Colitis/etiología , Colitis/terapia , Fármacos Gastrointestinales/efectos adversos , Fármacos Gastrointestinales/uso terapéutico , Adulto , Anemia Hemolítica Autoinmune/etiología , Antiinflamatorios/efectos adversos , Antiinflamatorios/uso terapéutico , Colitis Ulcerosa/tratamiento farmacológico , Femenino , Humanos , Infliximab , Esteroides/efectos adversos , Esteroides/uso terapéuticoRESUMEN
OBJECTIVE: a) to evaluate the appropriateness of histological criteria as proposed by Morson as indicators for surgery; and b) to compare the adequacy of Morson s criteria with Haggitt s levels as indicators for surgery in the case of malignant sessile lesions. MATERIAL AND METHODS: we carried out a prospective, protocolized study of 42 patients with polyps with invasive carcinoma (IC) who underwent colonoscopic polypectomy from 1979 through 2008. We applied the histological criteria proposed by Morson to all the patients included in the series. RESULTS: we treated 24 polyps with IC and favorable histological criteria (FC) and 18 polyps showing unfavorable histological criteria (UC). All polyps with FC were treated by means of colonoscopic polypectomy. None of the patients showed signs of disease after a mean follow-up period o f 9.67 yrs. Patients with polyps with UC were recommended to undergo surgery. The presence of unfavorable histological criteria in the polypectomy sample was clearly associated with an unfavorable patient outcome and showed a 100% sensitivity level, a negative prognostic value (NPV) of 100%, and a false negative (FN) percentage of 0% for the prognosis of the disease. We found 12 sessile polyps (Haggitt s level 4). Colonoscopic polypectomy was the treatment employed in 9 out of 12 cases. All patients are free from disease (mean follow-up 7.3 yrs). If Haggitt s level criteria had been applied, all 12 patients would have undergone surgery. This means 58% more patients than following Morson s criteria. CONCLUSIONS: Morson s criteria are considered an adequate diagnostic tool for the indication of surgery in patients with malignant adenomas. Haggitt s invasion levels do not accurately discriminate the necessity for surgery in case of malignant sessile lesions.
Asunto(s)
Adenocarcinoma/cirugía , Neoplasias del Colon/cirugía , Adenocarcinoma/patología , Adulto , Anciano , Colon/patología , Neoplasias del Colon/patología , Colonoscopía , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Pronóstico , España , Factores de Tiempo , Resultado del TratamientoRESUMEN
BACKGROUND: Inflammatory bowel disease (IBD) has become one of the most prevalent pathologies in Gastroenterology Units, which added to its clinical outcome, treatment, the complexity of affected patients and the need to be continuously updated for the correct management of the disease, have made essential the presence of specific IBD units in each hospital. OBJECTIVES: The primary aims of this study were: a) to reveal the existence of these units in our area and how they work; and b) to draw conclusions regarding the necessary resources in these units and their aims. MATERIAL AND METHODS: In order to analyse the presence of these specialized units and the available resources in Andalusian hospitals, a 24-question survey was designed, being answered by 11 hospitals. The evaluated questions included the number of days patients are attended and the number of physicians attending the unit, the number of available healthcare assistants, if emergencies are attended or not, if there is an activated telephone number for patient consultation, if a day care unit is available and if new treatments are easily accessible. RESULTS: A specific IBD unit is present in all studied hospitals attending more than 11 patients each, although in the 63.4% of the cases patients are not attended more than 3 days per week. On the other hand, the 81.8% of the included hospitals attend emergencies although only the 54.5% of them had a specific telephone number for patient attendance. CONCLUSIONS: A specific IBD unit is present in many Andalusian hospitals, although some deficiencies can be observed. The general opinion of this Group is that these units are necessary in order to properly attend, monitorize and treat patients affected by IBD.
Asunto(s)
Unidades Hospitalarias/estadística & datos numéricos , Enfermedades Inflamatorias del Intestino , Humanos , España , Encuestas y CuestionariosRESUMEN
INTRODUCTION: The present concept in our healthcare system is that medical care should be given on an outpatient basis with hospitalization occurring only when essential. We therefore put forth the development of the "all in one" outpatient office or "high resolution" outpatient clinic. For such purpose we administered a questionnaire to various Andalusian hospitals to define and determine those aspects necessary in the development of the aforementioned outpatient office. MATERIALS AND METHODS: The questionnaire was filled out by 10 Andalusian hospitals. This is a prospective-descriptive study of responses from all 10 participating hospitals. The 27 questions inquired on the existence of such an outpatient office and the infrastructure needed to develop this service: How many patients are seen, where is it physically located, where do patients come from, criteria for assigning patients to this medical office, condition of incoming patients, whether ultrasound scans are performed, whether an integrated hospital computer system exists, nursing staff, how many visits are required before coming to a diagnosis, and finally whether this type of outpatient office is needed, and if so, why. RESULTS: Of all 10 hospitals, 5 of them had this type of clinic. All of them considered this type of outpatient service essential. The number of patients treated should be "10", in the hospital itself. There are differences as to whether patients should come from the emergency room or a primary care physician. It seems logical to assume that only patients who can be diagnosed via ultrasounds or endoscopy should be chosen. To allow an ultrasonogram the patient should visit the outpatient office in a state of "fasting" and with standard blood counts from the primary care physician. The outpatient clinic should have a computer system and its own nurse. According to participating hospitals this type of outpatient visits is very useful in our present healthcare system, as it allows higher levels of collaboration between Primary Care and the specialist; it also provides a rapid orientation regarding patient pathology, and acts as a "filter" for the rest of the healthcare system. CONCLUSIONS: The outpatient office should be tended to by an attending specialist in the field (FEA) with knowledge and experience in ultrasounds and gastrointestinal endoscopy, as well as user competency with the required computer programs. In our present-day system this can be considered a modality of high-resolution outpatient services and a model of efficiency.
Asunto(s)
Instituciones de Atención Ambulatoria/estadística & datos numéricos , Enfermedades Gastrointestinales , Encuestas y Cuestionarios , Humanos , Estudios Prospectivos , EspañaRESUMEN
We report the case of a patient with hemorrhage due to secondary Aortoenteric Fistula (AEF), diagnosed by emergency oral endoscopy. We stress the importance of early diagnosis in these patients by virtue of a so-called "warning hemorrhage", which usually occurs hours or weeks before the appearance of a massive hemorrhage which is soon fatal. The importance of emergency endoscopy in the early diagnosis of these cases is emphasized.
Asunto(s)
Enfermedades de la Aorta/diagnóstico , Enfermedades Duodenales/diagnóstico , Fístula/diagnóstico , Fístula Intestinal/diagnóstico , Duodenoscopía , Humanos , Masculino , Persona de Mediana EdadRESUMEN
We present here a retrospective study of nine patients diagnosed with Whipple's disease (WD) in our hospital. This report em-phasises clinical presentation, diagnostic methods, treatment and response to treatment. In our study, the disease was more frequent in males, and the most frequent presenting symptoms were arthralgia, diarrhoea and weight loss. Since the intestine is almost always affected, oral endoscopy is a useful technique for the diagnosis of WD because it shows the typical miliary pattern and aids in obtaining biopsies to show the presence of PAS-positive macrophages (a suggestive though not diagnostic finding), to show bacilli using electron microscopy, or to detect genetic material using PCR. Our patients responded well to treatment. The most frequently used antibiotic was oral trimethoprim-sulfamethoxazole for at least one year. Treatment with penicillin G and IM streptomycin for 14 days was reserved for severe cases or cases that responded poorly to treatment.
Asunto(s)
Enfermedad de Whipple , Adulto , Anciano , Antibacterianos/administración & dosificación , Antibacterianos/uso terapéutico , Antiinfecciosos/administración & dosificación , Antiinfecciosos/uso terapéutico , Biopsia , Endoscopía , Femenino , Humanos , Mucosa Intestinal/patología , Intestino Delgado/patología , Masculino , Persona de Mediana Edad , Penicilina G/administración & dosificación , Penicilina G/uso terapéutico , Penicilinas/administración & dosificación , Penicilinas/uso terapéutico , Radiografía Abdominal , Estudios Retrospectivos , Estreptomicina/administración & dosificación , Estreptomicina/uso terapéutico , Factores de Tiempo , Tomografía Computarizada por Rayos X , Combinación Trimetoprim y Sulfametoxazol/administración & dosificación , Combinación Trimetoprim y Sulfametoxazol/uso terapéutico , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , Enfermedad de Whipple/patologíaRESUMEN
We present a patient with celiac sprue in whom intestinal lymphoma was suspected. At laparotomy, a brown discolouration of small bowel loops was observed, and a transmural biopsy confirmed a brown bowel syndrome, an entity that is found in long-standing malabsorption conditions. We believe that the intestinal disorder caused by deposition of lipofuscin in the bowel non-striated muscle may cause radiologic changes similar to those seen in intestinal lymphoma.
Asunto(s)
Lipofuscina/metabolismo , Síndromes de Malabsorción/diagnóstico , Adulto , Biopsia , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/metabolismo , Enfermedad Celíaca/patología , Enfermedad Crónica , Diagnóstico Diferencial , Diarrea/diagnóstico , Diarrea/metabolismo , Diarrea/patología , Humanos , Neoplasias Intestinales/diagnóstico , Intestino Delgado/metabolismo , Intestino Delgado/patología , Linfoma/diagnóstico , Síndromes de Malabsorción/metabolismo , Síndromes de Malabsorción/patología , MasculinoRESUMEN
The case of a giant trichobezoar of 2.500 g in weight observed in a 26-year old woman with paranoid disorder which led her to trichophagia is presented. A review of the literature was carried out with the different etiopathogenic theories and proposed treatments being discussed.
Asunto(s)
Bezoares , Duodeno , Estómago , Adulto , Bezoares/diagnóstico , Bezoares/cirugía , Endoscopía , Femenino , Humanos , Trastornos Paranoides , Tomografía Computarizada por Rayos XAsunto(s)
Fibrosis/complicaciones , Fármacos Gastrointestinales/uso terapéutico , Hidrotórax/tratamiento farmacológico , Hidrotórax/etiología , Octreótido/uso terapéutico , Anciano , Drenaje , Femenino , Fibrosis/tratamiento farmacológico , Humanos , Hidrotórax/diagnóstico , Resultado del TratamientoRESUMEN
Objective: a) to evaluate the appropriateness of histological criteria as proposed by Morson as indicators for surgery; and b) to compare the adequacy of Morsons criteria with Haggitts levels as indicators for surgery in the case of malignant sessile lesions. Material and methods: we carried out a prospective, protocolized study of 42 patients with polyps with invasive carcinoma (IC) who underwent colonoscopic polypectomy from 1979 through 2008. We applied the histological criteria proposed by Morson to all the patients included in the series. Results: we treated 24 polyps with IC and favorable histological criteria (FC) and 18 polyps showing unfavorable histological criteria (UC). All polyps with FC were treated by means of colonoscopic polypectomy. None of the patients showed signs of disease after a mean follow-up period o f 9.67 yrs. Patients with polyps with UC were recommended to undergo surgery. The presence of unfavorable histological criteria in the polypectomy sample was clearly associated with an unfavorable patient outcome and showed a 100% sensitivity level, a negative prognostic value (NPV) of 100%, and a false negative (FN) percentage of 0% for the prognosis of the disease. We found 12 sessile polyps (Haggitts level 4). Colonoscopic polypectomy was the treatment employed in 9 out of 12 cases. All patients are free from disease (mean follow- up 7.3 yrs). If Haggitts level criteria had been applied, all 12 patients would have undergone surgery. This means 58% more patients than following Morsons criteria. Conclusions: Morsons criteria are considered an adequate diagnostic tool for the indication of surgery in patients with malignant adenomas. Haggitts invasion levels do not accurately discriminate the necessity for surgery in case of malignant sessile lesions(AU)
Asunto(s)
Humanos , Masculino , Femenino , Neoplasias del Colon/terapia , Adenoma/complicaciones , Adenoma/diagnóstico , Endoscopía/tendencias , Endoscopía , Pólipos del Colon/diagnóstico , Pólipos del Colon/cirugía , Colectomía , Estudios Prospectivos , Adenocarcinoma/complicaciones , Carcinoma/complicacionesRESUMEN
We report a case of renal cell adenocarcinoma (T2-G3) metastatic to the stomach in a patient who underwent a left radical nephrectomy and presented hematemesis and melena two weeks postoperatively. We were prompted to report this case because metastasis to the stomach is rare and the literature is scant. Despite treatment by radical surgery, the short disease-free period following nephrectomy, the high histological grade (G3) and the aggressive nature of the tumor have resulted in a short survival.
Asunto(s)
Carcinoma de Células Renales/secundario , Neoplasias Renales/patología , Neoplasias Gástricas/secundario , Carcinoma de Células Renales/patología , Resultado Fatal , Humanos , Neoplasias Renales/cirugía , Persona de Mediana Edad , Nefrectomía , Neoplasias Gástricas/patologíaRESUMEN
No disponible
Asunto(s)
Femenino , Anciano , Humanos , Fístula Biliar/complicaciones , Fístula Biliar/etiología , Cirrosis Hepática Biliar/etiología , Cirrosis Hepática Biliar/fisiopatología , Cirrosis Hepática Biliar/cirugía , Equinococosis/patología , Equinococosis/cirugía , Constricción Patológica/etiología , Constricción Patológica/patología , Colangiografía/métodos , ColangiografíaAsunto(s)
Enteritis/diagnóstico , Síndromes de Malabsorción/diagnóstico , Úlcera/diagnóstico , Anciano , Enfermedad Celíaca/diagnóstico , Diagnóstico Diferencial , Femenino , Hemorragia Gastrointestinal/etiología , Humanos , Neoplasias Intestinales/diagnóstico , Linfoma/diagnóstico , Úlcera/complicacionesRESUMEN
Presentamos un estudio retrospectivo de nueve pacientes diagnosticados de enfermedad de Whipple (EW) en nuestro hospital, haciendo hincapié en las formas de presentación clínica, métodos diagnósticos, pautas de tratamiento y respuesta al mismo. En nuestra serie la enfermedad fue más frecuente en el varón, siendo los síntomas más frecuentes las artralgias, diarrea y pérdida de peso. Al ser la afectación intestinal casi constante, la endoscopia oral es una técnica útil para el diagnóstico de EW ya que además de mostrar el típico patrón miliar permite la toma de biopsias demostrando la presencia de macrófagos PAS + (hallazgo sugestivo pero no diagnóstico) y la demostración de los bacilos mediante microscopía electrónica o material genético de los mismos mediante técnicas de PCR. La respuesta al tratamiento fue favorable en nuestros pacientes, siendo el fármaco más utilizado el trimetropim-sulfametoxazol vía oral durante al menos un año, reservando el tratamiento intramuscular durante 14 días con penicilina G y estreptomicina en los casos más graves o con escasa respuesta al tratamiento. (AU)