The c.386A>C p.(Asn129Thr) variant in SMAD4 is likely to be pathogenic, causing Juvenile Polyposis Syndrome. A case report of a mosaic variant.

BACKGROUND: Juvenile Polyposis Syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple hamartomatous gastrointestinal polyps. Here, we present a case of JPS with a mosaic variant in SMAD4. METHODS: Exome sequencing TRIO analysis, using germline DNA from the biological mother and father along with the index case (IC). RESULTS: A 46-year-old male with no family history of cancer presented with chronic iron deficiency anemia and was diagnosed with massive gastric polyposis (≥100 polyps). At the age of 59, he underwent a total gastrectomy, revealing numerous polyps occupying the entire gastric mucosa, including a 5 cm gastric hyperplastic polyp with high-grade dysplasia and focal adenocarcinoma. TRIO analysis identified the c.386A>C p.(Asn129Thr) variant in the SMAD4 gene at an allele frequency (AF) of 22%, suggesting its mosaic origin. Subsequently, the variant was found in heterozygosity in the IC's son, who exhibited two subcentimeter polyps in the colon and seven inflammatory gastric polyps with gastric inflammatory areas and hyperplasia, suggesting that the c.386A>C p.(Asn129Thr) variant in SMAD4 segregated with the phenotype. CONCLUSION: Our study provides evidence supporting the classification of the c.386A>C p.(Asn129Thr) variant in SMAD4 as a likely pathogenic variant. This finding contributes to improved accuracy in the diagnosis and genetic counseling of JPS.

Endoscopic surveillance in patients with multiple (10-100) colorectal polyps.

BACKGROUND AND STUDY AIMS: Endoscopic surveillance in patients with multiple colorectal polyps aims to reduce colorectal cancer (CRC) incidence and mortality, as well as the need for colorectal surgery. The aim of this study was to determine the risk of developing CRC or the need for surgery during endoscopic surveillance in a cohort of patients with multiple (10 - 100) colorectal polyps. PATIENTS AND METHODS: This was a multicentrer, longitudinal, observational study in 15 CRC high risk clinics in Spain, carried out between January 2009 and December 2010. Patients who were included in the EPIPOLIP trial and had at least 1 year of follow-up were included in the study. The primary outcome of interest was the incidence of CRC at least 1 year following the initial colonoscopy. The secondary outcome was the need for colorectal surgery. RESULTS: A total of 265 patients were followed for a median of 3.8 years. Patients underwent a median of 5 colonoscopies, and 17 patients (6.4 %) were diagnosed with CRC. A total of 32 patients (12.1 %) underwent surgery, including 15 (5.7 %) for prophylaxis without a diagnosis of CRC. The corresponding incidence density rates for CRC and colorectal surgery were 1.4 (95 % confidence interval [CI] 0.7 to 2.1) and 2.7 (95 %CI 1.7 to 3.6) per 100 patient-years, respectively. Only the presence of symptoms at first colonoscopy was independently associated with CRC diagnosis (hazard ratio [HR] 7.7, 95 %CI 1.1 to 59.3) and colorectal surgery (HR 4.6, 95 %CI 1.02 to 20.6). CONCLUSIONS: Patients with more than 10 neoplastic polyps required frequent colonoscopies within a short follow-up period. More than 10 % of patients required colorectal surgery within 4 years, more than half for incident CRC.

Colorectal cancer diagnosis: Pitfalls and opportunities.

Colorectal cancer (CRC) is a major health problem in the Western world. The diagnostic process is a challenge in all health systems for many reasons: There are often no specific symptoms; lower abdominal symptoms are very common and mostly related to non-neoplastic diseases, not CRC; diagnosis of CRC is mainly based on colonoscopy, an invasive procedure; and the resource for diagnosis is usually scarce. Furthermore, the available predictive models for CRC are based on the evaluation of symptoms, and their diagnostic accuracy is limited. Moreover, diagnosis is a complex process involving a sequence of events related to the patient, the initial consulting physician and the health system. Understanding this process is the first step in identifying avoidable factors and reducing the effects of diagnostic delay on the prognosis of CRC. In this article, we describe the predictive value of symptoms for CRC detection. We summarize the available evidence concerning the diagnostic process, as well as the factors implicated in its delay and the methods proposed to reduce it. We describe the different prioritization criteria and predictive models for CRC detection, specifically addressing the two-week wait referral guideline from the National Institute of Clinical Excellence in terms of efficacy, efficiency and diagnostic accuracy. Finally, we collected information on the usefulness of biomarkers, specifically the faecal immunochemical test, as non-invasive diagnostic tests for CRC detection in symptomatic patients.

Factors related to length of hospital admission in mild interstitial acute pancreatitis.

OBJECTIVES: to describe the clinical practice and the factors associated with length of hospital stay in mild acute pancreatitis. METHODS: we present a retrospective observational study that includes a series of patients admitted to our hospital between January 2007 and December 2009 due to mild acute pancreatitis. Baseline data, treatments and examinations were collected. Variables associated with the length of hospital were determined using a Cox proportional hazards model. RESULTS: 232 patients were included (median age 74.3 years, bedside index for severity in acute pancreatitis score 1, comorbidity Charlson score 1, 52.6 % male). 75.9 % were admitted to the gastroenterology department. Oral diet was reintroduced at 3 (0-11) days and 28 patients (12 %) were intolerant to oral re-feeding. Abdominal ultrasound, a magnetic resonance cholangiopancreatography, endoscopic ultrasound, a computed tomographic scan, and endoscopic retrograde cholangiopancreatography were performed in 92.2, 34.5, 9.5, 28.4 and 14.7 % of admissions, respectively. The length of hospital stay was 8 (1-31) days. The variables independently associated with length of admission were: Charlson index > or = 2 (hazard ratio-HR-1.4, 95 % confidence interval-CI- 1.06-1.84; p: 0.017), admission in gastroenterology department (HR 0.67, 95 % CI 0.49 to 0.93; p: 0.016), fasting period > or = 3 days (HR 1.37, 95 % CI 1.05-1.78; p: 0.02), intolerance to oral re-feeding (HR 1.8, 95 % CI 1.17-2.77; p: 0.007), performance of computed tomographic scan (HR 2.05, 95 % CI 1.49-2.82; p < 0.001), magnetic resonance cholangiopancreatography (HR 1.87, 95 % CI 1.42-2.49; p < 0.001) and endoscopic retrograde cholangiopancreatography (HR 2.23, 95 % CI 1.51-3.3; p < 0.001). CONCLUSIONS: the variables associated with length of hospital stay were comorbidity, department in charge, fasting period, food intolerance and complementary explorations.

Factors related to length of hospital admission in mild interstitial acute pancreatitis

Objectives: to describe the clinical practice and the factors associated with length of hospital stay in mild acute pancreatitis. Methods: we present a retrospective observational study that includes a series of patients admitted to our hospital between January 2007 and December 2009 due to mild acute pancreatitis. Baseline data, treatments and examinations were collected. Variables associated with the length of hospital were determined using a Cox proportional hazards model. Results: 232 patients were included (median age 74.3 years, bedside index for severity in acute pancreatitis score 1, comorbidity Charlson score 1, 52.6 % male). 75.9 % were admitted to the gastroenterology department. Oral diet was reintroduced at 3 (0-11) days and 28 patients (12 %) were intolerant to oral re-feeding. Abdominal ultrasound, a magnetic resonance cholangiopancreatography, endoscopic ultrasound, a computed tomographic scan, and endoscopic retrograde cholangiopancreatography were performed in 92.2, 34.5, 9.5, 28.4 and 14.7 % of admissions, respectively. The length of hospital stay was 8 (1-31) days. The variables independently associated with length of admission were: Charlson index ≥ 2 (hazard ratio-HR-1.4, 95 % confidence interval-CI- 1.06-1.84; p: 0.017), admission in gastroenterology department (HR 0.67, 95 % CI 0.49 to 0.93; p: 0.016), fasting period ≥ 3 days (HR 1.37, 95 % CI 1.05-1.78; p: 0.02), intolerance to oral re-feeding (HR 1.8, 95 % CI 1.17-2.77; p: 0.007), performance of computed tomographic scan (HR 2.05, 95 % CI 1.49-2.82; p < 0.001), magnetic resonance cholangiopancreatography (HR 1.87, 95 % CI 1.42-2.49; p < 0.001) and endoscopic retrograde cholangiopancreatography (HR 2.23, 95 % CI 1.51-3.3; p < 0.001). Conclusions: the variables associated with length of hospital stay were comorbidity, department in charge, fasting period, food intolerance and complementary explorations (AU)

No disponible

Factors associated with intolerance after refeeding in mild acute pancreatitis.

OBJECTIVES: This study aimed to describe the mode of refeeding, frequency of intolerance, and related factors in mild acute pancreatitis (AP). METHODS: We included all cases of mild AP between January 2007 and December 2009 in an observational, descriptive, and retrospective study. We analyzed demographic and etiological data, admission variables, treatment, refeeding mode, intolerance frequency, and treatment. Intolerance-related variables were determined using a Cox regression. RESULTS: Two-hundred thirty-two patients were included (median age, 74.3 years, bedside index for severity in AP score, 1). Oral diet was reintroduced at 3 days (range, 0-11 days) in 90.9% of cases with a liquid diet. Intolerance to refeeding appeared in 28 patients (12.1%) at a median time of 1 day (range, 0-14 days). Oral diet was reduced or suspended in 71.4%; analgesic and antiemetic drugs were required in 64% and 35.7% of patients, respectively. The variables independently associated with intolerance to refeeding were choledocholithiasis (hazard ratio [HR], 12.35; 95% confidence interval [CI], 2.98-51.19; P = 0.001), fasting time (HR, 1.33; 95% CI, 1.09-1.63; P = 0.005), refeeding with complete diet (HR, 4.93; 95% CI, 1.66-14.66; P = 0.04), length of symptoms before admission (HR, 1.004; 95% CI, 1.001-1.006; P = 0.012), and metamizole dose (HR, 1.11; 95% CI, 1.02-1.21; P = 0.014). CONCLUSIONS: Intolerance to refeeding is an infrequent event. We have identified several factors independently associated with intolerance.