Andalusian Registry for familial adenomatous polyposis. Analysis of patients included.

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.

Results of a survey about specific inflammatory bowel disease units in Andalusia.

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.

Malignant colonic adenomas. Therapeutic criteria. Long-term results of therapy in a series of 42 patients in our healthcare area.

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.

[A high-resolution gastroenterology clinic in Andalusia: what is it, and how should it work]. / Consulta de alta resolución de digestivo en Andalucía: qué es y cómo debe funcionar?

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.

Effect of intestinal ischemia on pulmonary surfactant. An experimental study.

The infective factor seems to be very important in the physiopathology of intestinal ischaemia syndrome, as we suggested in previous research works, and is probably responsible for the disturbances observed in pulmonary surfactant. In the present research project, 48 mongrel dogs were studied under different situations of experimental intestinal ischaemia (arterial, venous and revascularization) after laparotomy and the pulmonary surfactant was determined in all cases. We conclude that the observed changes in phospholipids (phosphatidylglycerol and phosphatidylinositol particularly) can be directly related to the infective factor and important enough to induce physicochemical alterations of the surfactant and subsequently pulmonary function.

[Pulmonary nocardiosis. A case report (author's transl)]. / Nocardiosis pulmonar: descripción de un caso.

Within the genus Nocardia three species are at present considered to have human pathologic interest: N. asteroides, N. brasiliensis, and N. caviae. These species are usually the etiologic agents of at least two clinical pictures: nocardiosis and actinomycetoma. A case of pulmonar nocardiosis in a 62-year-old male is reported. The patient had asthmatic episodes and on several occasions received treatment with corticoids. The clinical picture basically consisted of an impairment of the general condition with respiratory symptomatology and fever of 38 to 39 degrees C. An opaque pleuropulmonary image was observed on the chest X-ray film, and the diagnosis of tuberculosis was initially established. The correct diagnosis was confirmed through the bacteriological examination of the transtracheal aspirate with the isolation of N. asteroides. Treatment with streptomycin, sulfamethoxazole and trimethoprim achieved the clinical and roentgenologic cure of the patient. After 2 months of treatment the clinical manifestations had disappeared and after 5 months the chest X-ray was normal. Some epidemiologic data are reviewed.

Whipple's disease: report of cases diagnosed in our hospital.

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.

[Aorto-duodenal fistula: endoscopic diagnosis]. / Fístula aorto-duodenal: diagnóstico endoscópico.

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.

[The brown bowel syndrome. A case report]. / Síndrome de intestino marrón. Descripción de un caso.

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.