Medical Specialties Commons^™

Exome Analysis Of Rare And Common Variants Within The Nod Signaling Pathway., Gaia Andreoletti, Valentina Shakhnovich, Kathy Christenson, Tracy Coelho, Rachel Haggarty, Nadeem A. Afzal, Akshay Batra, Britt-Sabina Petersen, Matthew Mort, R Mark Beattie, Sarah Ennis

Manuscripts, Articles, Book Chapters and Other Papers

Pediatric inflammatory bowel disease (pIBD) is a chronic heterogeneous disorder. This study looks at the burden of common and rare coding mutations within 41 genes comprising the NOD signaling pathway in pIBD patients. 136 pIBD and 106 control samples underwent whole-exome sequencing. We compared the burden of common, rare and private mutation between these two groups using the SKAT-O test. An independent replication cohort of 33 cases and 111 controls was used to validate significant findings. We observed variation in 40 of 41 genes comprising the NOD signaling pathway. Four genes were significantly associated with disease in the discovery cohort …

Novel Genetic Variants Associated With Child Refractory Esophageal Stricture With Food Allergy By Exome Sequencing., Min Yang, Min Xiong, Huan Chen, Lanlan Geng, Peiyu Chen, Jing Xie, Shui Qing Ye, Ding-You Li, Sitang Gong

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Refractory esophageal stricture (RES) may be attributed to food allergy. Its etiology and pathogenesis are not fully understood. Identification of novel genetic variants associated with this disease by exome sequencing (exome-seq) may provide new mechanistic insights and new therapeutic targets.

METHODS: To identify new and novel disease-associating variants, whole-exome sequencing was performed on an Illumina NGS platform in three children with RES as well as food allergy.

RESULTS: A total of 91,024 variants were identified. By filtering out 'normal variants' against those of the 1000 Genomes Project, we identified 12,741 remaining variants which are potentially associated with RES plus …

Gastrointestinal Stromal Tumor Induced Hypercalcemia, Aram Barbaryan, Stefania Bailuc, Padma Poddutoori, Aida Richardson, Aibek E. Mirrakhimov

Internal Medicine Faculty Publications

Hypercalcemia in patients with cancer is a common laboratory finding affecting up to 44% of that patient population. 1,25-Dihydroxyvitamin D₃ mediated hypercalcemia is one of the rare mechanisms of this endocrine emergency in cancer patients. It is even rarer for solid organ neoplasms to present with hypercalcemia mediated through the production of 1,25-dihydroxyvitamin D₃. We report a case of a 77-year-old female who presented to the hospital with hypercalcemia and later was found to have metastatic gastrointestinal stromal tumor. There have been only 5 cases of gastrointestinal stromal tumor described in literature resulting in hypercalcemia. In our …

Colonoscopy: Advanced And Emerging Techniques-A Review Of Colonoscopic Approaches To Colorectal Conditions., Anjali S Kumar, Jennifer Kim Lee

Articles, Abstracts, and Reports

A complete colonoscopy is key in the diagnostic and therapeutic approaches to a variety of colorectal diseases. Major challenges are incomplete polyp removal and missed polyps, particularly in the setting of a difficult colonoscopy. There are a variety of both well-established and newer techniques that have been developed to optimize polyp detection, perform complete polypectomy, and endoscopically treat various complications and conditions such as strictures and perforations. The objective of this article is to familiarize the colorectal surgeon with techniques utilized by advanced endoscopists.

Causal Pathways From Enteropathogens To Environmental Enteropathy: Findings From The Mal-Ed Birth Cohort Study, Margaret N. Kosek, Zulfiqar Ahmed Bhutta, Anita K. M. Zaidi, Imran Ahmed, Syed Asad Ali, Muneera Rasheed, Sajid Bashir Soofi, Ali Turab, Didar Alam, Shahida Qureshi

Department of Paediatrics and Child Health

Background: Environmental enteropathy (EE), the adverse impact of frequent and numerous enteric infections on the gut resulting in a state of persistent immune activation and altered permeability, has been proposed as a key determinant of growth failure in children in low- and middle-income populations. A theory-driven systems model to critically evaluate pathways through which enteropathogens, gut permeability, and intestinal and systemic inflammation affect child growth was conducted within the framework of the Etiology, Risk Factors and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development (MAL-ED) birth cohort study that included children from eight countries. …

Review Article: Pathogenesis And Clinical Manifestations Of Gastrointestinal Involvement In Systemic Sclerosis., Sumit Kumar, Jagmohan Singh, Satish Rattan, Anthony J. Dimarino, Sidney Cohen, Sergio A. Jimenez

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Gastrointestinal tract (GIT) involvement is a common cause of debilitating symptoms in patients with systemic sclerosis (SSc). There are no disease modifying therapies for this condition and the treatment remains symptomatic, largely owing to the lack of a clear understanding of its pathogenesis.

AIMS: To investigate novel aspects of the pathogenesis of gastrointestinal involvement in SSc. To summarise existing knowledge regarding the cardinal clinical gastrointestinal manifestations of SSc and its pathogenesis, emphasising recent investigations that may be valuable in identifying potentially novel therapeutic targets.

METHODS: Electronic (PubMed/Medline) and manual Google search.

RESULTS: The GIT is the most common internal …

Clostridium Septicum Aortitis With Synchronous Ascending Colon And Rectal Adenocarcinoma., Deepanshu Jain, Andrew C. Kistler, Patricia L. Kozuch

Division of Gastroenterology and Hepatology Faculty Papers

Clostridium septicum (C. septicum) aortitis is a rare condition frequently associated with colon adenocarcinoma and carries a poor prognosis. We report the case of a 66-year-old man who presented with abdominal pain, blood in the stool, fever and chills. Laboratory tests were significant for leukocytosis and microcytic anemia. Abdominal imaging revealed a right colon mass and aortitis. Colonoscopy confirmed the right colon mass and also discovered a rectal mass, both adenocarcinomas. Treatment consisted of antibiotics, aortic repair, right hemi-colectomy and later trans-anal excision of the rectal mass. Blood cultures and the aortic specimen grew C. septicum. The patient improved and …

Polyp Resection - Controversial Practices And Unanswered Questions, Daniel Von Renteln, Heiko Pohl

Dartmouth Scholarship

Detection and complete removal of precancerous neoplastic polyps are central to effective colorectal cancer screening. The prevalence of neoplastic polyps in the screening population in the United States is likely 450%. However, most persons with neoplastic polyps are never destined to develop cancer, and do not benefit for finding and removing polyps, and may only be harmed by the procedure. Further 70–80% of polyps are diminutive (≤5 mm) and such polyps almost never contain cancer. Given the questionable benefit, the high-cost and the potential risk changing our approach to the management of diminutive polyps is currently debated. Deemphasizing diminutive polyps …

Mortality Associated With Gastrointestinal Bleeding In Children: A Retrospective Cohort Study., Thomas M. Attard, Mikaela Miller, Chaitanya Pant, Ashwath Kumar, Mike Thomson

Manuscripts, Articles, Book Chapters and Other Papers

AIM: To determine the clinical characteristics of children with gastrointestinal bleeding (GIB) who died during the course of their admission.

METHODS: We interrogated the Pediatric Hospital Information System database, including International Classification of Diseases, Current Procedural Terminology and Clinical Transaction Classification coding from 47 pediatric tertiary centers extracting the population of patients (1-21 years of age) admitted (inpatient or observation) with acute, upper or indeterminate GIB (1/2007-9/2015). Descriptive statistics, unadjusted univariate and adjusted multivariate analysis of the associations between patient characteristics and treatment course with mortality was performed with mortality as primary and endoscopy a secondary outcome of interest. All …

Pancreaticoduodenectomy In A Patient With Previous Left Ventricular Assist Device: A Case Report With Specific Emphasis On Peri-Operative Logistics., Juan Mejia, Mei Dong, Okechukwu Ojogho

Articles, Abstracts, and Reports

To the best of our knowledge this is the first case of this nature described in the literature. Sharing the authors experience with this case, particularly the technical challenges and post-operative management may aid other physicians facing similar scenarios. In this report, we describe a pancreaticoduodenectomy for pancreatic adenocarcinoma in a patient with a previous left ventricular assist device (LVAD). A multidisciplinary approach, particularly close involvement of the advanced heart failure, mechanical heart and pancreas surgery teams was key to the success of this case. Major abdominal surgery in the setting of previous LVAD should be considered carefully, however, the …

Feasibility, Safety, And Outcomes Of A Single-Step Endoscopic Ultrasonography-Guided Drainage Of Pancreatic Fluid Collections Without Fluoroscopy Using A Novel Electrocautery-Enhanced Lumen-Apposing, Self-Expanding Metal Stent., Joseph Yoo, Linda Yan, Raza Hasan, Sanaa Somalya, Jose Nieto, Ali A. Siddiqui

Division of Gastroenterology and Hepatology Faculty Papers

BACKGROUND AND OBJECTIVES: There are currently limited data available regarding the safety of endoscopic ultrasound (EUS)-guided drainage of pancreatic fluid collections (PFCs) using the lumen-apposing metal stent without fluoroscopic guidance. This study aims to evaluate clinical outcomes and safety of EUS-guided drainage of PFC using the electrocautery-enhanced lumen-apposing metal stents (EC-LAMSs) without fluoroscopic guidance.

METHODS: We conducted a retrospective study on patients with symptomatic PFC who underwent EUS-guided drainage using EC-LAMS without fluoroscopy. All patients were followed clinically until resolution of their PFC. Technical success (successful placement of EC-LAMS), number of patients who achieved complete resolution of PFC without additional …

Distribution Of Gastric Carcinoma In An Area With A High Prevalence Of Helicobacter Pylori., Javed Yakoob, Syeda Sadia Fatima, Z Abbas, Syed Farrukh Mustafa, Hamza Abdur Rahim Khan, Muhammad Faraz Raghib, Safia Awan, Zubair Ahmad

Section of Gastroenterology

BACKGROUND/AIMS:

South Asia is an enigma for gastric cancer (GC) because it is a low risk region with a high prevalence of Helicobacter pylori (H. pylori) infections. We evaluated the trend of GC clinical presentation and risk factors in patients with dyspeptic symptoms.

MATERIALS AND METHODS:

The medical records of patients, coded by the international classification of diseases (ICD-10-CM, 2015, Diagnosis Code C16.9) for malignancies of stomach diagnosed by esophagogastroduodenoscopy (EGD) and histopathology, were studied.

RESULTS:

394 GC cases with a mean age of 54±15 years, range of 18 to 88, were analyzed. 256 (65%) were male. Distal non-cardiac and …

Frequency Of Worsening Liver Function In Severe Dengue Hepatitis Patients Receiving Paracetamol: A Retrospective Analysis Of Hospital Data., Ahsan Ali Syed, Faisal Aslam, Haris Hakeem, Faraz Siddiqui, Noreen Nasir

Department of Medicine

Objective: To determine the frequency of worsening liver function among hospital in-patients with severe dengue hepatitis receiving paracetamol.

Methods: This retrospective study was conducted at the Department of Medicine, Aga Khan University Hospital, Karachi, and comprised records of dengue patients with severe hepatitis who received paracetamol for control of fever between June 2007 and December 2014. Alanine aminotransferase at baseline and following paracetamol administration was noted, as well as dosage and duration of paracetamol, along with participants' demographic details. Frequency of patients who developed worsening or improvement of alanine aminotransferase was also noted. SPSS 19 was used for data analysis. …

Itopride For Gastric Volume, Gastric Emptying And Drinking Capacity In Functional Dyspepsia, Shahab Abid, Wasim Jafri, Maseeh Uz Zaman, Rakhshanda Bilal, Safia Awan, Aamir Abbas

Section of Gastroenterology

AIM: To study the effect of itopride on gastric accommodation, gastric emptying and drinking capacity in functional dyspepsia (FD).

Methods: Randomized controlled trial was conducted to check the effect of itopride on gastric accommodation, gastric emptying, capacityof tolerating nutrient liquid and symptoms of FD. We recruited a total of 31 patients having FD on the basis of ROME III criteria. After randomization, itopride was received by 15 patients while 16 patients received placebo. Gastric accommodation was determined using Gastric Scintigraphy. ¹³C labeled octanoic breadth test was performed to assess gastric emptying. Capacity of tolerating nutrient liquid drink …

Outcomes From A 12-Week, Open-Label, Multicenter Clinical Trial Of Teduglutide In Pediatric Short Bowel Syndrome., Beth A. Carter, Valeria C. Cohran, Conrad R. Cole, Mark R. Corkins, Reed A. Dimmitt, Christopher Duggan, Susan Hill, Simon Horslen, Joel D. Lim, David F. Mercer, Russell J. Merritt, Peter F. Nichol, Luther Sigurdsson, Daniel H. Teitelbaum, John Thompson, Charles Vanderpool, Juliana F. Vaughan, Benjamin Li, Nader N. Youssef, Robert S. Venick, Samuel A. Kocoshis

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To determine safety and pharmacodynamics/efficacy of teduglutide in children with intestinal failure associated with short bowel syndrome (SBS-IF).

STUDY DESIGN: This 12-week, open-label study enrolled patients aged 1-17 years with SBS-IF who required parenteral nutrition (PN) and showed minimal or no advance in enteral nutrition (EN) feeds. Patients enrolled sequentially into 3 teduglutide cohorts (0.0125 mg/kg/d [n = 8], 0.025 mg/kg/d [n = 14], 0.05 mg/kg/d [n = 15]) or received standard of care (SOC, n = 5). Descriptive summary statistics were used.

RESULTS: All patients experienced ≥1 treatment-emergent adverse event; most were mild or moderate. No serious teduglutide-related …

Manage Terminal Ileum Diverticulitis Comparably To Diverticulitis Elsewhere, James Yip

Clinical Research in Practice: The Journal of Team Hippocrates

A critical appraisal and clinical application of Park HC, Lee BH. The management of terminal ileum diverticulitis. Am Surg. 2009 Dec;75(12):1199-202.

Complete Esophageal Obstruction After Endoscopic Variceal Band Ligation In A Patient With A Sliding Hiatal Hernia, Munthir Mansour Md, Yousef Abdel-Aziz Md, Hesham Awadh, Nihar Shah Md, Akash Ajmera

Gastroenterology

Complete esophageal obstruction is a rare complication of endoscopic variceal banding, with only 6 cases in the English literature since the introduction of endoscopic variceal banding in 1986. We report a case of complete esophageal obstruction following esophageal banding due to entrapment of part of a sliding hiatal hernia. To our knowledge, our case is one of few with esophageal obstruction post-banding, and the first associated with a hiatal hernia. We recommend caution when performing esophageal banding on patients with a hiatal hernia.

Proton Pump Inhibitors (Ppis): A Review Of The Efficacy, Usage, And Current Literature Recommendations, Travis M. Booke

Physician Assistant Scholarly Project Posters

• As Klepser, Collier, and Cochran (2013) noted, PPIs are a class of agents that reduce acid secretion by parietal cells in the stomach by irreversibly blocking H+/K+ adenosine triphosphate. They are commonly prescribed for many gastrointestinal (GI) conditions including gastric and duodenal ulcers, gastroesophageal reflux disease (GERD), upper gastrointestinal bleeding, and Helicobacter pylori infections. They are frequently utilized in the primary care setting. The purpose of this study was to examine the efficacy, usage, and current literature on PPIs.

• There were several complications noted with PPI usage. Gomm et al. (2016) found that that use of PPI is …

Do Pediatric Gastroenterology Doctors Address Pediatric Obesity?, Suruchi Batra, Caitlin Yee, Bernadette Diez, Nicholas Nguyen, Michael J Sheridan, Mark Tufano, Natalie Sikka, Stacie Townsend, Suchitra Hourigan

Psychiatry and Behavioral Sciences Faculty Publications

Objectives:

To assess how often obesity is acknowledged at pediatric gastroenterology outpatient visits.

Methods:

A retrospective chart review was performed to identify obese children seen at a gastroenterology subspecialty clinic over a 1-year period of time; 132 children were identified. Demographics, obesity comorbidities, reasons for referral, diagnosis of obesity, and a plan to address obesity were abstracted. Chi-square or Fisher’s exact tests were used to examine statistical associations.

Results:

Only 49% of children were given a diagnosis of obesity. In total, 52% of children were given a body mass index reduction plan. Those diagnosed with obesity were more likely to …

New Developments In The Treatment Of Primary Biliary Cholangitis - Role Of Obeticholic Acid., Manan A Jhaveri, Kris V Kowdley

Articles, Abstracts, and Reports

Primary biliary cholangitis (PBC) is a chronic autoimmune cholestatic liver disease that predominantly affects women in early to middle age. It is typically associated with autoantibodies to mitochondrial antigens and results in immune-mediated destruction of small and medium-sized intrahepatic bile ducts leading to cholestasis, hepatic fibrosis and may progress to cirrhosis or hepatic failure and, in some cases, hepatocellular carcinoma. The clinical presentation and the natural history of PBC have improved over the years due to recognition of earlier widespread use of ursodeoxycholic acid (UDCA); about one-third of patients show suboptimal biochemical response to UDCA with poor prognosis. Until recently, …

Havoc In The Gut: Ipilimumab-Induced Prolonged Steroid Dependent Autoimmune Gastroenterocolitis., Abdul Aleem Md, Anam Malik Md, Eric Nellis Md, Hiral N. Shah Md

Department of Medicine

No abstract provided.

Preoperative Immunonutrition And Elective Colorectal Resection Outcomes., Lucas W Thornblade, Thomas K Varghese, Xu Shi, Eric K Johnson, Amir Bastawrous, Richard P Billingham, Richard Thirlby, Alessandro Fichera, David R Flum

Articles, Abstracts, and Reports

BACKGROUND: Randomized controlled trials demonstrate the efficacy of arginine-enriched nutritional supplements (immunonutrition) in reducing complications after surgery. The effectiveness of preoperative immunonutrition has not been evaluated in a community setting.

OBJECTIVE: This study aims to determine whether immunonutrition before elective colorectal surgery improves outcomes in the community at large.

DESIGN: This is a prospective cohort study with a propensity score-matched comparative effectiveness evaluation.

SETTINGS: This study was conducted in Washington State hospitals in the Surgical Care Outcomes Assessment Program from 2012 to 2015.

PATIENTS: Adults undergoing elective colorectal surgery were selected.

INTERVENTIONS: Surgeons used a preoperative checklist that recommended that …

Histopathology And Enhanced Detection Of Tumor Invasion Of Peritoneal Membranes., Jey-Hsin Chen, Melissa Borges

Articles, Abstracts, and Reports

Tumor invasion of the peritoneal membrane may have an adverse prognostic significance, but its histopathologic features can be diagnostically difficult to recognize. We observed that local peritoneal injury associated with tumor invasion is characterized by activation and proliferation of serosal stromal cells that express cytokeratin, a characteristic property of injured serosal membranes that may have diagnostic utility. To explore this, we examined 120 primary tumors of the gastrointestinal tract and pancreaticobiliary system using cytokeratin and elastic stains to assess for tumor invasion of peritoneal membranes. Peritoneal invasion by tumor was associated with retraction, splaying, and destruction of the elastic lamina …

Role Of Assessment For Retreatment With Transarterial Chemoembolization Score In Decision Of Retreatment With Trans-Arterial Chemo-Embolization Sessions In Patients With Hepatocellular Carcinoma, Anwar Hussain Abbasi, Shahab Abid, Tanveer Ul Haq, Safia Awan

Department of Family Medicine

Background: The objective behind this study was to determine that Assessment for Retreatment with Transarterial chemoembolization (ART) score is really applicable in patients with hepatocellular carcinoma.
Methods: A cross sectional observational study was conducted on all patients with hepatocellular carcinoma of intermediate stage and undergone ≥2 Transarterial chemoembolization. ART score was assessed before and after each session of Transarterial chemoembolization. Multi-logistic regression analysis was performed to compare the final outcome of patients with ART score of ≥2.5 into groups with two and more than two Trans-arterial chemo-embolization sessions.
Results: A total of 100 HCC patients were recruited for final analysis. …

A Novel Compound-Heterozygous Epithelial Cell Adhesion Molecule Mutation In Tufting Enteropathy., Valentina Shakhnovich, Darrell Dinwiddie, Amber Hildreth, Thomas M. Attard, Stephen Kingsmore

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Is Radiofrequency Ablation Effective In Treating Barrett’S Esophagus Patients With High-Grade Dysplasia?, Ariana S. Karnado

PCOM Physician Assistant Studies Student Scholarship

Objective: The objective of the selective EBM review is to determine whether or not “Is radiofrequency ablation effective in treating Barrett’s esophagus patients with high-grade dysplasia?”

Study Design: Review of two randomized controlled trials and one cohort study. All three studies were published in English in peer-reviewed journals after 2000.

Data Sources: Two randomized controlled trials and one cohort study found via PubMed.

Outcome(s) Measured: All three studies measured eradication of dysplasia via biopsy evaluation. Other outcomes measured included progression to high-grade dysplasia or adenocarcinoma based on histology findings, overall cancer risk based on observations of …

Is Radiofrequency Energy A Safe And Effective Treatment For Reducing Symptoms Of Gastroesophageal Reflux Disease In Patients 18 Years Or Older?, Kristen L. Schaffer

PCOM Physician Assistant Studies Student Scholarship

OBJECTIVE: The objective of this selective evidence based medicine review is to determine whether or not “Is radiofrequency energy a safe and effective treatment for reducing symptoms of gastroesophageal reflux disease in patients 18 years or older?”

STUDY DESIGN: Review of two double-blind, randomized control trials and one double-blind, randomized cross-over study published between 2003 and 2012. All studies were published in the English language in peer reviewed journals.

DATA SOURCES: Two randomized control trials and one randomized cross-over study were found using PubMed.

OUTCOMES MEASURED: The outcomes measured include changes in GERD symptom scores for …

Are Cams Safe And Effective In Improving Symptoms Of Adult Patients Over The Age Of 18 With Active Crohn Disease?, Amy Pellerito

PCOM Physician Assistant Studies Student Scholarship

Objective: The objective of this selective EBM review is to determine whether or not complimentary and alternative medicines are safe and effective in improving symptoms of adult patients over the age of 18 with active Crohn disease.

Study design: A review of three published, randomized controlled trials (RCTs), one published in 2010, and the second and third in 2014. All English language.

Data source: All 3 RCT’s were found using PubMed.

Outcomes measured: All three studies measured improvement of Crohn disease symptoms through the Crohn Disease Activity Index (CDAI), Hamilton’s Depression Scale (HAMD), the Inflammatory Bowel …

Prebiotics And Inflammatory Bowel Disease, Heather Rasmussen, Bruce R. Hamaker

Department of Nutrition and Health Sciences: Faculty Publications

Inflammatory bowel disease risk factors include poor diet, and corresponding low intake of dietary fiber, specifically prebiotics, which is fermented by the gut microbiota. Dietary fibers, many of which are potential prebiotics, have hundreds to thousands of unique chemical structures that may promote bacteria or bacterial groups to provide beneficial health effects. In vitro and in vivo animal models provide some support for the use of prebiotics for inflammatory bowel disease through inflammation reduction. Studies using prebiotics in patients with inflammatory bowel disease are limited and focus on only a select few prebiotic substances.

Keywords: Inflammatory bowel disease, Ulcerative colitis, …

Bleeding Meckel's Diverticulum In Children: The Diagnostic Value Of Double-Balloon Enteroscopy., Lan-Lan Geng, Pei-Yu Chen, Qiang Wu, Hui-Wen Li, Ding-You Li, Min Yang, Si-Tang Gong

Manuscripts, Articles, Book Chapters and Other Papers

Background. Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract. The purpose of this study was to evaluate the diagnostic value and safety of double-balloon enteroscopy (DBE) for bleeding MD in children. Methods. We included consecutive children who were highly suspected of MD between 2012 and 2013. All patients underwent Meckel's scan. DBE was performed for patient with negative Meckel's scan. An exploratory laparoscopy was performed in children with positive Meckel's scan or DBE. Results. 42 patients met the inclusion criteria. 40 patients were confirmed to have MD by exploratory laparoscopy. Meckel's scan …