RESUMEN
Debate surrounds processes of visual recognition, with no consensus as to whether recognition of distinct object categories (faces, bodies, cars, and words) is domain specific or subserved by domain-general visual recognition mechanisms. Here, we investigated correlations between the performance of 74 participants on recognition tasks for words, faces and other object categories. Participants completed a counter-balanced test battery of the Cambridge Face, Car and Body Parts Memory tests, as well as a standard four category lexical decision task, with response time and recognition accuracy as dependent variables. Results revealed significant correlations across domains for both recognition accuracy and response time, providing some support for domain-general pattern recognition. Further exploration of the data using principal component analysis (PCA) revealed a two-component model for both the response time and accuracy data. However, how the various word and object recognition tasks fitted these components varied considerably but did hint at familiarity/expertise as a common factor. In sum, we argue a complex relationship exists between domain-specific processing and domain-general processing, but that this is shaped by expertise. To further our understanding of pattern recognition, research investigating the recognition of words, faces and other objects in dyslexic individuals is recommended, as is research exploiting neuroimaging methodologies, with excellent temporal resolution, to chart the temporal specifics of different forms of visual pattern recognition.
Asunto(s)
Reconocimiento Visual de Modelos , Reconocimiento en Psicología , Humanos , Reconocimiento en Psicología/fisiología , Reconocimiento Visual de Modelos/fisiología , Percepción Visual/fisiología , Tiempo de Reacción , CaraRESUMEN
BACKGROUND AND AIMS: Subsite-specific incidence rates of colorectal cancer (CRC) and adenomas may vary considerably by race, sex and age as well as due to different screening strategies. We assessed variations in the anatomical distribution of adenomas according to age and sex in an average-risk screening cohort testing positive at immunological faecal occult blood test (i-FOBT) in northern Italy. METHODS: Data from 2,281 consecutive asymptomatic i-FOBT-positive subjects ageing 50-70 years undergone colonoscopy were reviewed. Size, number, macroscopic and histological features of all adenomas found as well as their proximal or distal location in relation to the splenic flexure were examined. Odds ratios (OR) of proximal neoplasms, according to the presence of distal neoplasms and other selected covariates were assessed by multiple logistic regression analysis. RESULTS: A total of 2,599 neoplasms were found in 1,396 patients. Of these, 116 (5 %) were colorectal cancers, diagnosed in 106 patients. Out of 2,483 adenomas found, 1,564 (63 %) were sessile, 795 (32 %) were peduncolated and 124 (5 %) were flat-type; 54 % of all adenomas were tubular, 36 % were tubulovillous or villous, and 10 % were serrated adenomas. The majority of neoplasms (66 %) were located in the distal colon. Tumour subsite distribution was consistent in both sexes, whereas significant proximal migration of neoplasms occurred in the older age cohort. Indeed, the rate of proximal neoplasms in patients aged ≥60 years was 37 % as compared with 29 % in those ageing 50-59 years. Male gender (OR 1.84), age of 60 years or older (OR 1.44), having a family history of colorectal neoplasms (OR 1.47) and presence of at least 1 distal advanced adenoma (OR 1.63) were all significant predictors of advanced proximal neoplasms. CONCLUSIONS: A left to right shift of colorectal adenomas with increasing age is evident in northern Italian asymptomatic i-FOBT-positive population. Advanced proximal neoplasms are not uncommon in subjects with or without distal adenomas, especially after 60 years of age. This should be carefully considered when implementing public screening strategies for CRC since the use of flexible sigmoidoscopy as a screening tool, particularly in older age groups, appears to be less effective.
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Adenoma/patología , Neoplasias Colorrectales/patología , Detección Precoz del Cáncer/métodos , Pruebas Hematológicas/métodos , Sangre Oculta , Caracteres Sexuales , Adenoma/sangre , Adenoma/diagnóstico , Adenoma/epidemiología , Factores de Edad , Anciano , Estudios de Cohortes , Colonoscopía , Neoplasias Colorrectales/sangre , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/epidemiología , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Factores de RiesgoRESUMEN
BACKGROUND AND STUDY AIMS: Colorectal cancer (CRC) screening aims to reduce mortality by detecting cancers at an early stage and removing adenomatous polyps at an acceptable cost. The aim of the current study were to assess the outcomes and costs of the first two biennial rounds of a population-based CRC screening program using the immunochemical fecal occult blood test (i-FOBT) in a northern Italian province. METHODS: All residents aged 50â-â69 years were invited to take part in a biennial screening program using a 1-day i-FOBT, followed by colonoscopy in positive individuals. The i-FOBT uptake, compliance to colonoscopy, detection rate for cancer or advanced adenomas according to age and sex, and direct cost analysis were carried out separately for the 1st and 2nd rounds of screening. RESULTS: In 78â083 (1st round) and 81â619 (2nd round) individuals who were invited to screening, the participation rates were 49.7â% and 54.4â% and i-FOBT positivity rates were 6.2â% and 5.8â%, respectively. Detection rates for cancer and advanced adenomas were lower in the 2nd screening compared with the 1st one (1.6 vs. 2.5 for cancers and 15.8 vs. 17.9 for advanced adenomas, respectively), whereas positive predictive values for cancer and advanced adenoma were similar in both rounds. In 165 adenocarcinomas detected, 52â% were Dukes' stage A and 21â% were stage B. All cost indicators were slightly higher in the 1st round of screening compared with the 2nd. The direct cost per cancer or advanced adenoma detection was similar in the two rounds (â1252 and â1260, respectively). CONCLUSIONS: Compliance and diagnostic yield of i-FOBT screening were satisfactory. Most detected cancers were at a very early stage. Program costs were reasonable and did not increase with repeat screening. Screening could contribute to decreasing the cost of CRC care by improving the stage at diagnosis.
Asunto(s)
Neoplasias Colorrectales/diagnóstico , Tamizaje Masivo/economía , Sangre Oculta , Evaluación de Procesos y Resultados en Atención de Salud , Anciano , Neoplasias Colorrectales/economía , Neoplasias Colorrectales/epidemiología , Costos y Análisis de Costo , Detección Precoz del Cáncer , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND AND AIM: Recurrence of diverticulitis is frequent within 5 years from the uncomplicated first attack, and its prophylaxis is still unclear. We have undertaken a multicentre, randomised, double-blind, placebo-controlled pilot study in order to evaluate the role of mesalazine in preventing diverticulitis recurrence as well as its effects on symptoms associated to diverticular disease. METHODS: Ninety-six patients with the recent first episode of uncomplicated diverticulitis were randomised to receive mesalazine 800 mg twice daily for 10 days every month or placebo for 24 months. The primary efficacy end point was the diverticulitis recurrence at intention to treat analysis. Clinical evaluations were performed using the Therapy Impact Questionnaire (TIQ) for physical condition and quality of life at admission and at 3-month intervals. Treatment tolerability and routine biochemistry parameters as well as the use of additional drugs were also evaluated. RESULTS: Ninety-two patients (mean age, 61.5) completed the study, 45 of whom received mesalazine, and 47, placebo. Diverticulitis relapse incidence in mesalazine-treated group was 5/45 (11%) at the 12th month and 6/45 (13%) at the 24th month; in the placebo-treated group, the correspondent rates were 13% (6/47) and 28% (13/47), respectively. Mean values of TIQ at 24 months were significantly better in mesalazine-treated group than in placebo-treated group (p = 0.02); in addition, average additional drug consumption was significantly lower (-20.4%, p < 0.03) in mesalazine than in placebo. CONCLUSIONS: Diverticulitis recurrence occurred in as many as 28% of patients under placebo within 24 months from the initial episode. Intermittent prophylaxis with mesalazine did not significantly reduce the risk of relapse but induced a significant improvement of patients' physical conditions and significantly lowered the additional consumption of other gastrointestinal drugs.
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Diverticulitis/tratamiento farmacológico , Diverticulitis/prevención & control , Mesalamina/uso terapéutico , Adulto , Anciano , Anciano de 80 o más Años , Intervalos de Confianza , Demografía , Método Doble Ciego , Femenino , Humanos , Estimación de Kaplan-Meier , Masculino , Mesalamina/efectos adversos , Persona de Mediana Edad , Proyectos Piloto , Placebos , Recurrencia , Factores de Riesgo , Encuestas y Cuestionarios , Factores de Tiempo , Resultado del TratamientoRESUMEN
BACKGROUND: The results of a pilot colorectal cancer screening programme by biennial immunochemical faecal occult blood test (FOBT) are reported. METHODS: All residents aged between 50 and 69 years in the Italian province of Lecco were invited to have a FOBT. Those with a positive result were offered colonoscopy. FOBT uptake and compliance with colonoscopy were assessed. Detection rate and positive predictive value (PPV) for cancer and adenoma were calculated. Tumour stages were compared between screen-detected cancers and other colorectal cancers diagnosed within the target age group. RESULTS: Some 38,693 (49.6 per cent) of 78,083 individuals had a FOBT and 2392 (6.2 per cent) had a positive result. Colorectal cancer was diagnosed in 4.6 per cent and advanced adenoma in 32.7 per cent. PPVs were 4.0 per cent for cancer, 28.1 per cent for advanced adenoma and 36.6 per cent for any adenoma. There was a significant difference in incidence of stage III/IV disease between screened and non-screened cohorts. Compliance for colonoscopy was 92.0 per cent. Major determinants of compliance were age less than 59 years, female sex, high education level and non-manual work. CONCLUSION: These results justify extension of colorectal cancer screening to other regions of Italy.
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Neoplasias Colorrectales/diagnóstico , Detección Precoz del Cáncer , Tamizaje Masivo/métodos , Sangre Oculta , Anciano , Anciano de 80 o más Años , Colonoscopía/estadística & datos numéricos , Escolaridad , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Cooperación del Paciente/estadística & datos numéricos , Proyectos Piloto , Distribución por SexoRESUMEN
BACKGROUND AND AIM: Mucosal healing (MH) after short-term medical treatment is being considered as an important step in the therapeutic work-up of inflammatory bowel disorder (IBD) patients due to the potential prognostic role of MH in predicting disease outcome. However, IBD patients are reluctant to be re-endoscoped during follow-up; therefore, there is a need for non-invasive alternative index of MH which can replace endoscopy in clinical practice. We evaluated bowel ultrasound (US) as a surrogate of colonoscopy in a series of consecutive patients with active ulcerative colitis (UC). PATIENTS AND METHODS: 83 patients with moderate to severe UC requiring high-dose steroids were initially recruited; endoscopic severity of UC was graded 0-3 according to Baron score, and US severity was also graded 0-3 according to the colonic wall thickening and the presence of vascular signal at power Doppler. 74 patients responsive to steroids and then maintained on 5-ASA compounds were followed up with repeated colonoscopy and bowel US at 3, 9 and 15 months from entry. Concordance between clinical, endoscopic and US scores at various visits was determined by kappa statistics. Multiple unconditional logistic regression models were used to assess the predictivity of Truelove, Baron and US scores measured at 3 and 9 months on the development of a UC relapse (Baron score 2-3) at 15 months. RESULTS: An inconsistent concordance was found over time between 0 and I Baron scores and Truelove score (weighted kappa between 0.38 and 0.94), with high and consistent concordance between 0 and I Baron scores and US scores (weighted kappa between 0.76 and 0.90). On logistic regression analysis, a moderate/severe Baron score, regardless of their Truelove score, at 3 months was associated with a high risk of endoscopic activity at 15 months (OR 5.2; 95% CI: 1.6-17.6); similarly, patients with severe US scores (2-3) at 3 months had a high risk of severe endoscopic activity at 15 months (OR 9.1; 95% CI: 2.5-33.5). DISCUSSION: In expert hands bowel US may be used as a surrogate of colonoscopy in evaluating the response to high-dose steroids in severe forms of UC. US score after 3 months of steroid therapy accurately predicts clinical outcome of disease at 15 months.
Asunto(s)
Colitis Ulcerosa/diagnóstico por imagen , Colitis Ulcerosa/patología , Mucosa Intestinal/diagnóstico por imagen , Mucosa Intestinal/patología , Cicatrización de Heridas , Adulto , Colitis Ulcerosa/terapia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Tiempo , Resultado del Tratamiento , Ultrasonografía , Adulto JovenRESUMEN
OBJECTIVE: Blood loss following joint replacement surgery represents a relevant issue for orthopedic surgeons. The use of tranexamic acid (TXA) to reduce transfusion requirements has become mainstream. However, consensus about the starting time, methods, or volume of usage of TXA in joint replacement surgery has yet to be found. A retrospective study was conducted comparing pre- and post-operative infusion of TXA 15 mg/kg to a single pre-operative infusion. PATIENTS AND METHODS: 291 patients undergoing TKA were retrospectively reviewed. 109 received a single pre-operative dose of 15 mg/ kg TXA (single dose, SD group), 182 received a single pre- operative dose of 15 mg/ kg TXA followed by a second post-operative dose of 15 mg/kg TXA (double dose, DD group). The primary outcome was blood loss calculated from haematological values and perioperative transfusions. Secondary outcomes included the occurrence of major complications within the first postoperative year. RESULTS: None of the patients reported adverse events. Blood transfusions were administered to 63 patients (13.5%) in the SD and 36 in the DD group (5.7%). Significant difference between the groups was observed (p < 0.005). No significant difference between the two groups was found concerning mean blood loss in drainage after the 24th hour and postoperative hemoglobin values (p = n.s.). CONCLUSIONS: The study demonstrated that TXA possesses a good safety profile. In addition, pre- and post-operative infusion of TXA 15 mg/kg is more effective compared to single pre-operative infusion in reducing need for transfusion requirements.
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Antifibrinolíticos/administración & dosificación , Artroplastia de Reemplazo de Rodilla/efectos adversos , Transfusión Sanguínea/estadística & datos numéricos , Ácido Tranexámico/administración & dosificación , Administración Intravenosa , Antifibrinolíticos/uso terapéutico , Artroplastia de Reemplazo de Rodilla/métodos , Pérdida de Sangre Quirúrgica/prevención & control , Humanos , Periodo Posoperatorio , Periodo Preoperatorio , Estudios Retrospectivos , Ácido Tranexámico/uso terapéuticoRESUMEN
BACKGROUND: Analysis of exhaled volatile organic compounds (VOCs) may be applied for diagnostic purposes in some chronic diseases, but there are no data on their role for discriminating people with congestive heart failure (CHF), particularly in older patients where natriuretic peptides have lower accuracy. We evaluated whether VOCs analysis can discriminate patients with or without CHF, stratify CHF severity and predict the response to therapy of decompensated CHF. METHODS AND RESULTS: We recruited 89 subjects admitted to an acute care ward with acutely decompensated CHF, 117 healthy controls and 103 chronic obstructive pulmonary disease (COPD) controls. CHF patients performed echocardiography. VOCs were collected using the Pneumopipe® and analyzed with the BIONOTE electronic nose. Partial least square analysis was used to evaluate the discriminative capacity of VOCs. Accuracy in discrimination of CHF versus healthy and COPD controls was 81% and 69%, respectively; accuracy did not decrease in a sensitivity analysis excluding subjects younger than 65 and older than 80 years. In CHF patients VOCs pattern could predict with fair precision ejection fraction and systolic pulmonary arterial pressure, but not changes in weight due to therapy. CONCLUSIONS: VOCs pattern is able to discriminate older CHF patients from healthy people and COPD patients and correlates with cardiac function markers.
Asunto(s)
Insuficiencia Cardíaca/diagnóstico , Compuestos Orgánicos Volátiles/análisis , Anciano , Anciano de 80 o más Años , Presión Sanguínea , Pruebas Respiratorias , Estudios de Casos y Controles , Análisis Discriminante , Espiración , Femenino , Humanos , Análisis de los Mínimos Cuadrados , Masculino , Persona de Mediana Edad , Enfermedad Pulmonar Obstructiva Crónica/diagnóstico , Enfermedad Pulmonar Obstructiva Crónica/fisiopatología , Pruebas de Función Respiratoria , Volumen SistólicoRESUMEN
Proper management of Helicobacter pylori infection in clinical practice--when supported by evidence-based data--is expected to produce substantial cost-efficacy advantages. This consideration has prompted the Cervia Working Group to organise a meeting of experts to update the National Guidelines on the diagnosis and treatment of H. pylori infection in Italy. Recommendations in the new European Guidelines were considered in the National setting, here in the light of factors such as the incidence of gastric cancer and gastric lymphoma, the accessibility to different diagnostic tools, the prevalence of bacterial resistance against antibiotics, and the availability of different drugs. The main revisions in respect to the previous guidelines include H. pylori eradication in non-ulcer dyspepsia patients and in non-steroidal, anti-inflammatory drug users, as well as in patients with idiopathic thrombocytopenic purpura and iron deficiency anaemia. The stool antigen test is now accepted as a valid test for confirmation of H. pylori eradication following therapy. New therapeutic approaches have been recommended for both first- (sequential therapy) and second-line (levofloxacin-based) treatment in our country.
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Antibacterianos/uso terapéutico , Conferencias de Consenso como Asunto , Endoscopía Gastrointestinal/métodos , Inhibidores Enzimáticos/uso terapéutico , Infecciones por Helicobacter , Helicobacter pylori/aislamiento & purificación , Guías de Práctica Clínica como Asunto , Diagnóstico Diferencial , Infecciones por Helicobacter/diagnóstico , Infecciones por Helicobacter/tratamiento farmacológico , Infecciones por Helicobacter/epidemiología , Humanos , Italia/epidemiología , Prevalencia , Inhibidores de la Bomba de ProtonesRESUMEN
Systemic scleroderma is an autoimmune disease, due to a connective tissue alteration characterized by extracellular matrix increase in the skin and internal organs. It is already known that the Raynaud's phenomenon and the microcapillary obliteration lead to ischemia and peripheral tissue injury. The ischemia-reperfusion phenomenon releases free radicals, that react with red blood cells (RBCs) membrane components originating lipid peroxidation and impairment of the ATP-Ca(++) pump, two possible mechanisms responsible of disease pathogenesis. Nifedipine is a Ca(++)-channel antagonist that has been used for a long time in Raynaud's phenomenon treatment. In the present study we were able to demonstrate that erythrocyte deformability and two other related variables such as membrane fluidity and osmotic fragility improve significantly with nifedipine therapy. It is likely that nifedipine inhibiting cytoplasmic calcium accumulation could restore some red blood cell membrane properties.
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Viscosidad Sanguínea/efectos de los fármacos , Bloqueadores de los Canales de Calcio/farmacología , Deformación Eritrocítica/efectos de los fármacos , Nifedipino/farmacología , Fragilidad Osmótica/efectos de los fármacos , Esclerodermia Sistémica/tratamiento farmacológico , Adulto , Femenino , Hemorreología/efectos de los fármacos , HumanosRESUMEN
The gene responsible for multiple endocrine neoplasia type 1 (MEN1), a heritable predisposition to endocrine tumours in man, has recently been identified. Here we have characterized the murine homologue with regard to cDNA sequence, genomic structure, expression pattern and chromosomal localisation. The murine Men1 gene spans approximately 6.7 kb of genomic DNA and is comprised of 10 exons with similar genomic structure to the human locus. It was mapped to the pericentromeric region of mouse chromosome 19, which is conserved with the human 11q13 band where MEN1 is located. The predicted protein is 611 amino acids in length and overall is 97% homologous to the human orthologue. The 45 reported MEN1 mutations which alter or delete a single amino acid in human all occur at conserved residues, thereby supporting their functional significance. Two transcripts of approximately 3.2 and 2.8 kb were detected in both embryonal and adult murine tissues, resulting from alternative splicing of intron 1. By RNA in situ hybridization and Northern analysis the spatiotemporal expression pattern of Men1 was determined during mouse development. Men1 gene activity was detected already at gestational day 7. At embryonic day 14 expression was generally high throughout the embryo, while at day 17 the thymus, skeletal muscle, and CNS showed the strongest signal. In selected tissues from postnatal mouse Men1 was detected in all tissues analysed and was expressed at high levels in cerebral cortex, hippocampus, testis, and thymus. In brain the menin protein was detected mainly in nerve cell nuclei, whereas in testis it appeared perinuclear in spermatogonia. These results show that Men1 expression is not confined to organs affected in MEN1, suggesting that Men1 has a significant function in many different cell types including the CNS and testis.
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Regulación del Desarrollo de la Expresión Génica , Ratones/genética , Proteínas de Neoplasias/biosíntesis , Proteínas Proto-Oncogénicas , Proto-Oncogenes , Secuencia de Aminoácidos , Animales , Encéfalo/embriología , Encéfalo/metabolismo , Mapeo Cromosómico , ADN Complementario/genética , Femenino , Biblioteca de Genes , Humanos , Hibridación Fluorescente in Situ , Masculino , Ratones/embriología , Ratones/crecimiento & desarrollo , Datos de Secuencia Molecular , Proteínas del Tejido Nervioso/biosíntesis , Proteínas del Tejido Nervioso/genética , Especificidad de Órganos , Empalme del ARN , ARN Mensajero/biosíntesis , Alineación de Secuencia , Homología de Secuencia de Aminoácido , Especificidad de la Especie , Testículo/embriología , Testículo/metabolismoRESUMEN
BACKGROUND: Hepatitis C virus infection is more common in patients with inflammatory bowel disease than in general population. Limited data are available as to the safety and efficacy of alpha-interferon therapy for chronic active hepatitis C in patients with concomitant inflammatory bowel disease. AIM: To evaluate the efficacy and safety of alpha-interferon monotherapy in patients with chronic active hepatitis C and inactive or mildly active inflammatory bowel disease. METHODS: A total of 513 consecutive inflammatory bowel disease patients at a single centre were tested for antibodies to hepatitis C virus (anti-hepatitis C virus) between 1995 and 2000. Twenty-one patients had detectable anti-hepatitis C virus Ab and were hepatitis C virus-RNA positive with histologically proved chronic active hepatitis. Each of these patients, whose inflammatory bowel disease was in clinical remission or mildly active, was sex- and age-matched to three controls with similar histological grade and stage of chronic hepatitis C virus but without inflammatory bowel disease; and all were treated with human leucocyte alpha-interferon 6 million units given thrice weekly for 12 months. Responses to treatment were classified as follows: complete response--persistently normal alanine aminotransferase and viral clearance (hepatitis C virus-RNA-ve) at the end-of-treatment, incomplete response--alanine aminotransferase normalization without viral clearance (hepatitis C virus-RNA+ve), and sustained response--alanine aminotransferase normalization and hepatitis C virus clearance 12 months after the end-of-treatment. RESULTS: Twenty-one patients with chronic active hepatitis C and inflammatory bowel disease (10 with Crohn's disease and 11 with ulcerative colitis) and 63 sex- and age-matched controls with chronic hepatitis C virus alone received alpha-interferon monotherapy. Response rates to interferon were similar for inflammatory bowel disease patients compared with controls [CR 42% vs. 35% and SR 24% vs. 18% (P, not significant), respectively]. None of the 21 inflammatory bowel disease patients had severe adverse effects and the mild ones observed were comparable with those seen in the control group. No patients developed an inflammatory bowel disease relapse during the interferon treatment period or in the 12 months thereafter. CONCLUSIONS: The biochemical and virological response to a 12-month human leucocyte alpha-interferon treatment in patients with chronic active hepatitis C are similar to that observed in matched controls with chronic hepatitis C virus without inflammatory bowel disease. Adverse effects are similar in both groups of patients and unrelated to the underlying inflammatory bowel condition. This provides hepatologists with evidence that alpha-interferon can be safely administered to patients with chronic hepatitis C virus and inflammatory bowel disease provided that the inflammatory bowel condition is in clinical remission.
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Hepatitis C Crónica/tratamiento farmacológico , Enfermedades Inflamatorias del Intestino/complicaciones , Interferón-alfa/efectos adversos , Adulto , Anciano , Alanina Transaminasa/sangre , Estudios de Casos y Controles , Femenino , Hepacivirus/aislamiento & purificación , Hepatitis C Crónica/complicaciones , Hepatitis C Crónica/virología , Humanos , Interferón-alfa/uso terapéutico , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Índice de Severidad de la Enfermedad , Resultado del Tratamiento , Carga ViralAsunto(s)
Diarrea/etiología , Cálculos Biliares/complicaciones , Anciano , Fístula Biliar/complicaciones , Fístula Biliar/diagnóstico por imagen , Enfermedad Crónica , Enfermedades del Colon/complicaciones , Enfermedades del Colon/diagnóstico por imagen , Colonoscopía , Cálculos Biliares/diagnóstico por imagen , Humanos , Fístula Intestinal/complicaciones , Fístula Intestinal/diagnóstico por imagen , Masculino , RadiografíaRESUMEN
Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disease characterized by neoplasia of the parathyroid glands, the endocrine pancreas, and the anterior pituitary gland. In addition, families with isolated endocrine neoplasia, notably familial isolated hyperparathyroidism (FIHP) and familial acromegaly, have also been reported. However, whether these families constitute MEN 1 variants or separate entities remains speculative as the genetic bases for these diseases are unclear. The gene for MEN 1 has recently been cloned and characterized. Using single strand conformation analysis (SSCA) and sequencing, we performed mutation analysis in: a) a total of 55 MEN 1 families from 7 countries, b) 13 isolated MEN 1 cases without family history of the disease, c) 8 acromegaly families, and d) 4 FIHP families. Mutations were identified in 27 MEN 1 families and 9 isolated cases. The 22 different mutations spread across most of the 9 translated exons and included frameshift (11), nonsense (6), splice (2), missense mutations (2), and in-frame deletions (1). Among the 19 Finnish MEN 1 probands, a 1466del12 mutation was identified in 6 families with identical 11q13 haplotypes and in 2 isolated cases indicating a common founder. One frameshift mutation caused by 359del4 (GTCT) was found in 1 isolated case and 4 kindreds of different origin and haplotypes; this mutation therefore represents a common "warm" spot in the MEN1 gene. By analyzing the DNA of the parents of an isolated case one mutation was confirmed to be de novo. No mutation was found in any of the acromegaly and small FIHP families, suggesting that genetic defects other than the MEN1 gene might be involved and that additional such families need to be analyzed.
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Acromegalia/genética , Análisis Mutacional de ADN , Hiperparatiroidismo/genética , Neoplasia Endocrina Múltiple Tipo 1/genética , Femenino , Mutación del Sistema de Lectura , Eliminación de Gen , Marcadores Genéticos , Genotipo , Haplotipos , Humanos , Escala de Lod , Masculino , Linaje , Polimorfismo Genético , Polimorfismo Conformacional Retorcido-Simple , Empalme del ARN , Análisis de Secuencia de ADNRESUMEN
Duodenal ulcer is a chronic disease characterised by remission and relapses. The duration of this relapsing tendency is unpredictable for the individual patient, but in most cases it lasts for many years and perhaps the entire lifetime. Various therapeutic strategies have been suggested to maintain the disease in remission: continuous, intermittent and on-demand treatment with H2-antagonists, or surgery. Continuous maintenance treatment with the currently available H2-blockers has proved to be superior to all the other strategies in terms of efficacy, and should therefore be regarded as the long term treatment of choice for duodenal ulcer patients. The duration of maintenance treatment is still uncertain, but probably it should not be less than a few years. Intermittent treatment or surgery could be proposed to patients unsuitable for continuous maintenance, depending on whether they have mild or aggressive disease, respectively.
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Antiulcerosos/uso terapéutico , Úlcera Duodenal/tratamiento farmacológico , Antagonistas de los Receptores H2 de la Histamina/uso terapéutico , Úlcera Duodenal/cirugía , Humanos , RecurrenciaRESUMEN
BACKGROUND: A regional initiative, called the 'three-day rule', has recently been introduced in Italy to facilitate the earlier diagnosis of malignancy. It requires patients with suspected severe diseases to have a diagnostic procedure performed within three working days of referral by a general practitioner. AIM: To assess prospectively the effectiveness and compliance with the three-day rule for upper digestive malignancies. METHODS: We compared patients referred for gastroscopy under the three-day rule initiative with contemporaneous open access referrals over a 12-month period at a single large teaching hospital in west Milan. We compared the prevalence of malignancies and other serious non-neoplastic diseases as well as the waiting times in the two groups. The appropriateness of the indications for each referral was also reviewed by a gastroenterologist blind to the outcome of the test. RESULTS: One hundred and forty-two patients referred for gastroscopy under the three-day rule scheme and 767 routine referrals were studied. Significantly more oesophageal/gastric cancers (6% vs. 1%) and serious benign gastrointestinal lesions (grade II-III oesophagitis or peptic ulcer) were diagnosed in three-day rule patients in comparison with routine referrals (P < 0.05). The rate of inappropriate referral was significantly lower in the three-day rule group than in the open access group (39% vs. 22%) (P < 0.01). The estimated cost of the three-day rule scheme (in extra list examinations alone) was 10 780 euros, with about 1198 euros per diagnosis of cancer, but only 229.5 euros per 'useful' diagnosis (including peptic ulcer disease and oesophagitis). CONCLUSIONS: Significantly more upper gastrointestinal cancers and serious benign diseases can be found within a short period to comply with the three-day rule scheme. However, some general practitioners appear to over-interpret alarm symptoms, leading to some inappropriate referrals. Better awareness of appropriate urgent referral criteria is needed in order to ensure that the best use is made of the resources available.
Asunto(s)
Enfermedades Gastrointestinales/diagnóstico , Neoplasias Gastrointestinales/diagnóstico , Gastroscopía/estadística & datos numéricos , Auditoría Médica , Adolescente , Adulto , Anciano , Femenino , Enfermedades Gastrointestinales/fisiopatología , Neoplasias Gastrointestinales/fisiopatología , Gastroscopía/economía , Humanos , Italia , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Derivación y Consulta , Factores de TiempoRESUMEN
AIM: To compare the eradicating capacity of two different antibiotic-lansoprazole combinations (amoxycillin vs. standard triple therapy) with that of lansoprazole alone in Helicobacter pylori-positive duodenal ulcer patients. METHODS: Ninety-six out-patients with H. pylori-positive duodenal ulcer were randomly assigned to receive one of the following three antiulcer regimens: (1) lansoprazole 30 mg b.d. for 4 weeks plus amoxycillin 1 g t.d.s. during the last 2 weeks; or (2) lansoprazole 30 mg once daily for 4 weeks plus classical triple therapy (tripotassium dicitratobismuthate 240 mg b.d., amoxycillin 1 g t.d.s. and tinidazole 500 mg b.d.) for the last 2 weeks; or (3) lansoprazole 30 mg once daily for 4 weeks. Endoscopy was repeated at the end of treatment and 1 month later. A rapid urease test and histology were used to determine H. pylori status. RESULTS: Duodenal ulcer healing rates at 4 weeks were 96% after both lansoprazole with amoxycillin, and lansoprazole with triple therapy, and 97% after lansoprazole alone. Eradication of H. pylori was significantly better with lansoprazole with triple therapy than with either lansoprazole with amoxycillin or lansoprazole alone (90% vs. 55% vs. 3%, respectively). CONCLUSION: Classical triple therapy combined with lansoprazole is significantly more effective than the lansoprazole with amoxycillin combination for the eradication of H. pylori in duodenal ulcer patients pre-treated with lansoprazole.
Asunto(s)
Antiulcerosos/administración & dosificación , Quimioterapia Combinada/uso terapéutico , Infecciones por Helicobacter/tratamiento farmacológico , Helicobacter pylori , Omeprazol/análogos & derivados , 2-Piridinilmetilsulfinilbencimidazoles , Amoxicilina/administración & dosificación , Antitricomonas/administración & dosificación , Úlcera Duodenal/tratamiento farmacológico , Femenino , Humanos , Lansoprazol , Masculino , Omeprazol/administración & dosificación , Penicilinas/administración & dosificación , Tinidazol/administración & dosificaciónRESUMEN
AIMS: To investigate the diagnostic approach to and management of Helicobacter pylori infection at primary care level in Italy 2 years after the Maastricht consensus report. METHODS: A total of 100 randomly selected general practitioners (GPs) answered a 12-item multiple-choice questionnaire, personally delivered and collected by non-medical staff. RESULTS: In 25% of cases, GPs preferred a prompt referral of dyspeptic patients to the specialist. The favourite diagnostic test for H. pylori infection was gastroscopy with biopsies (55%), followed by standard and office-based serology (24% and 18%, respectively), and 13C urea breath test (5%). H. pylori-eradication was prescribed in patients with peptic ulcer, reflux oesophagitis and functional dyspepsia by 64%, 43% and 66% of GPs, respectively. Only 7% of GPs adopted a test-and-treat approach. Proton pump inhibitor-based triple therapies were used by almost all physicians. In peptic ulcer disease, most of GPs re-tested patients in order to confirm H. pylori eradication (50% by gastroscopy with biopsies and 30% by serology only 2 months after therapy). CONCLUSIONS: Uncertainty seems to persist among Italian GPs concerning the indications for H. pylori treatment, the use of diagnostic tests, and patient follow-up. In contrast, no doubts exist regarding the first choice eradication regimens. This survey suggests that further efforts should be made to spread scientific knowledge and guidelines on H. pylori diagnosis and management in primary care in Italy.
Asunto(s)
Enfermedades Gastrointestinales/tratamiento farmacológico , Infecciones por Helicobacter/tratamiento farmacológico , Helicobacter pylori , Antibacterianos/uso terapéutico , Recolección de Datos , Utilización de Medicamentos , Dispepsia/tratamiento farmacológico , Dispepsia/microbiología , Medicina Familiar y Comunitaria , Enfermedades Gastrointestinales/microbiología , Infecciones por Helicobacter/microbiología , Humanos , ItaliaRESUMEN
BACKGROUND: Proton pump inhibitors may interfere with the accuracy of the (13)C-urea breath test, but little information is available on the effect of standard doses of various proton pump inhibitors on this test. AIM: To evaluate the effect of short-term standard doses of omeprazole, lansoprazole and pantoprazole on the accuracy of the standardized (13)C-urea breath test. METHODS: A total of 124 patients with Helicobacter pylori infection, diagnosed on the basis of gastric histology, rapid urease test and (13)C-urea breath test, were studied. These patients received omeprazole, 20 mg/day, lansoprazole, 30 mg/day, or pantoprazole, 40 mg/day, for 2 weeks according to a randomized protocol. (13)C-Urea breath test was repeated on days 4, 7 and 14 while on therapy and 7 days after proton pump inhibitor withdrawal. RESULTS: Of the patients receiving omeprazole and lansoprazole, 30% (12/40) and 20% (8/41), respectively, became (13)C-urea breath test negative during therapy, compared with none of the 42 patients treated with pantoprazole (P < 0.05). All the false negative (13)C-urea breath test results returned to positive within 1 week of drug withdrawal, with a mean recovery to 84.7 +/- 15.6% of baseline delta(13)CO(2). CONCLUSIONS: Short-term omeprazole and lansoprazole interfere with the 13C-urea breath test, although a return to positive test results invariably occurs within 1 week of proton pump inhibitor withdrawal. In contrast, the accuracy of the (13)C-urea breath test does not appear to be significantly impaired by short-term pantoprazole, which therefore may not necessarily be withdrawn before this test.