Colonic manifestations of PTEN hamartoma tumor syndrome: Case series and systematic review

AIM:To investigate our clinical experience with the colonic manifestations of phosphatase and tensin homolog on chromosome ten(PTEN)hamartoma tumor syndrome(PHTS)and to perform a systematic literature review regarding the same.METHODS:This study was approved by the appropriate institutional review board prior to initiation.A clinical genetics database was searched for patients with PHTS or a component syndrome that received gastrointestinal endoscopy or pathology interpretation at our center.These patient’s records were retrospectively reviewed for clinical characteristics(including family history and genetic testing),endoscopy results and pathology findings.We also performed a systematic review of the literature for case series of PHTS or component syndromes that reported gastrointestinal manifestations and investigations published after consensus diagnostic criteria were established in 1996.These results were compiled and reported.RESULTS:Eight patients from our institution met initial inclusion criteria.Of these,5 patients underwent4.2 colonoscopies at mean age 45.8±10.8 years.All were found to have colon polyps during their clinical course and polyp histology included adenoma,hyperplastic,ganglioneuroma and juvenile.No malignant lesions were identified.Two had multiple histologic types.One patient underwent colectomy due to innumerable polyps and concern for future malignant potential.Systematic literature review of PHTS patients undergoing endoscopy revealed 107 patients receiving colonoscopy at mean age 37.4 years.Colon polyps were noted in92.5%and multiple colon polyp histologies were reported in 53.6%.Common polyp histologies included hyperplastic(43.6%),adenoma(40.4%),hamartoma(38.3%),ganglioneuroma(33%)and inflammatory(24.5%)polyps.Twelve(11.2%)patients had colorectal cancer at mean age 46.7 years(range 35-62).Clinical outcomes secondary to colon polyposis and malignancy were not commonly reported.CONCLUSION:PHTS has a high prevalence of colon polyposis with multiple histologic types.It should be considered a mixed polyposis syndrome.Systematic review found an increased prevalence of colorectal cancer and we recommend initiating colonoscopy for colorectal cancer surveillance at age 35 years.

Hospital outcomes and early readmission for the most common gastrointestinal and liver diseases in the United States:Implications for healthcare delivery

BACKGROUND Gastrointestinal(GI)and liver diseases contribute to substantial inpatient morbidity,mortality,and healthcare resource utilization.Finding ways to reduce the economic burden of healthcare costs and the impact of these diseases is of crucial importance.Thirty-day readmission rates and related hospital outcomes can serve as objective measures to assess the impact of and provide further insights into the most common GI ailments.AIM To identify the thirty-day readmission rates with related predictors and outcomes of hospitalization of the most common GI and liver diseases in the United States.METHODS A cross-sectional analysis of the 2012 National Inpatient Sample was performed to identify the 13 most common GI diseases.The 2013 Nationwide Readmission Database was then queried with specific International Classification of Diseases,Ninth Revision,Clinical Modification codes.Primary outcomes were mortality(index admission,calendar-year),hospitalization costs,and thirty-day readmission and secondary outcomes were predictors of thirty-day readmission.RESULTS For the year 2013,the thirteen most common GI diseases contributed to 2.4 million index hospitalizations accounting for about$25 billion.The thirty-day readmission rates were highest for chronic liver disease(25.4%),Clostridium difficile(C.difficile)infection(23.6%),functional/motility disorders(18.5%),inflammatory bowel disease(16.3%),and GI bleeding(15.5%).The highest index and subsequent calendar-year hospitalization mortality rates were chronic liver disease(6.1%and 12.6%),C.difficile infection(2.3%and 6.1%),and GI bleeding(2.2%and 5.0%),respectively.Thirty-day readmission correlated with any subsequent admission mortality(r=0.798,P=0.001).Medicare/Medicaid insurances,≥3 Elixhauser comorbidities,and length of stay>3 d were significantly associated with thirty-day readmission for all the thirteen GI diseases.CONCLUSION Preventable and non-chronic GI disease contributed to a significant economic and health burden comparable to chronic GI conditions,providing a window of opportunity for improving healthcare delivery in reducing its burden.

Outcomes of inpatient cholecystectomy among adults with cystic fibrosis in the United States

BACKGROUND Symptomatic biliary and gallbladder disorders are common in adults with cystic fibrosis(CF)and the prevalence may rise with increasing CF transmembrane conductance regulator modulator use.Cholecystectomy may be considered,but the outcomes of cholecystectomy are not well described among modern patients with CF.AIM To determine the risk profile of inpatient cholecystectomy in patients with CF.METHODS The Nationwide Inpatient Sample was queried from 2002 until 2014 to investigate outcomes of cholecystectomy among hospitalized adults with CF compared to controls without CF.A propensity weighted sample was selected that closely matched patient demographics,patient’s individual comorbidities,and hospital characteristics.The propensity weighted sample was used to compare outcomes among patients who underwent laparoscopic cholecystectomy.Hospital outcomes of open and laparoscopic cholecystectomy were compared among adults with CF.RESULTS A total of 1239 inpatient cholecystectomies were performed in patients with CF,of which 78.6%were performed laparoscopically.Mortality was<0.81%,similar to those without CF(P=0.719).In the propensity weighted analysis of laparoscopic cholecystectomy,there was no difference in mortality,or pulmonary or surgical complications between patients with CF and controls.After adjusting for significant covariates among patients with CF,open cholecystectomy was independently associated with a 4.8 d longer length of stay(P=0.018)and an$18449 increase in hospital costs(P=0.005)compared to laparoscopic cholecystectomy.CONCLUSION Patients with CF have a very low mortality after cholecystectomy that is similar to the general population.Among patients with CF,laparoscopic approach reduces resource utilization and minimizes post-operative complications.