bluuebunny/crossref_metadata_2025_split huggingface dataset:
2067 Beckwith-Wiedemann Syndrome and the Association With Crohn's Disease
Authors: Hudspath Caleb B. , Kozacek Kyler , Manibusan Pedro 
Published: October 2019

INTRODUCTION:
Beckwith-Wiedemann syndrome is a congenital growth disorder characterized by macrosomia, organomegaly, abdominal wall defects, and a predisposition for tumor development. The clinical manifestations are caused by epigenetic alterations on chromosome 11p15.5, which encodes tumor protein p57. This protein serves many critical cellular functions to include cell proliferation, differentiation, and apoptosis. Genetic linkage studies have provided strong evidence for the development of inflammatory bowel disease (IBD). Chromosome 11p has been described as a possible IBD loci with susceptible genes. We present the first reported case of a patient with Beckwith-Wiedemann syndrome and Crohn’s disease.

CASE DESCRIPTION/METHODS:
A 30-year-old female with Beckwith-Wiedemann syndrome and a history of Crohn’s disease presented for initial establishment of care. She was diagnosed at age 23 after having symptoms of diarrhea and severe abdominal pain. Her treatment history consisted of mesalamine, mercaptopurine, and most recently infliximab. Infliximab was started after colonoscopy showed active colitis within the ascending, transverse, descending, and terminal ileum. Her complications from Beckwith-Wiedemann syndrome consisted of macroglossia resulting in obstructive sleep apnea. At her six-month follow up the patient had improvement in symptoms and no evidence of active colitis or ileitis.

DISCUSSION:
Genetic associations with IBD have been well studied and indicated a strong basis for the development of IBD. Chromosome 11p has been investigated in a genomic-wide linkage study in Finnish IBD families which reported it as a susceptible loci for IBD. Tumor protein p57, located on chromosome 11p, and its interaction with the well known p53 family has yet to be fully described. This could be an area of further research. Transcription factors within the p53 family have been well studied for their expression within IBD, gastric, esophageal, and colon cancer. The mechanism between chromosome 11p and the development of IBD has not yet been defined. This case involved a patient with a known genetic mutation that has been recently linked to the development of IBD.
2081 Idiopathic Thrombocytopenic Purpura: An Uncommon Extra-intestinal Manifestation of Crohn's Disease
Authors: Epistola Raisa , Do Tiffanie , Hou Linda A. , Fleischman Wayne 
Published: October 2019

INTRODUCTION:
Idiopathic thrombocytopenic purpura (ITP) is characterized by the presence of autoantibodies against platelet surface antigens with immune-mediated platelet destruction. While the association of ITP and inflammatory bowel disease (IBD) has been described in few case reports, management of ITP as an extra-intestinal manifestation of Crohn’s disease (CD) is less studied.

CASE DESCRIPTION/METHODS:
A 27-year-old man with history of CD and ITP presented with 3 days of bloody diarrhea and non-bloody, nonbilious vomiting. Physical exam notable for mild periumbilical tenderness, no hepatosplenomegaly present. Admission labs showed platelets of 18, ESR of 49, CRP of 8.04. He was started on IV methylprednisone and given platelet transfusions with only a brief response in platelet count. He was then treated with 2 doses of intravenous immunoglobulin (IVIg). His platelet count had only a transient response to combined steroids and IVIg, so rituximab was given on hospital day 10. He continued to have hematochezia and underwent endoscopy, revealing body and fundus gastropathy as well as moderate-severe proctosigmoiditis. Given a history of thrombocytopenia with adalimumab and infliximab, he received ustekinumab for his CD flare on day 14. He was taken to the operating room for colectomy and splenectomy on day 25 for ongoing CD flare and thrombocytopenia requiring daily transfusions. After surgery, platelets increased without transfusions. Discharge platelet count was 571. Colon pathology showed changes consistent with chronic IBD, severe disease activity. His CD has been controlled on maintenance ustekinumab and 6-mercaptopurine in the 5 months following discharge. Platelets remain stable at 170 without additional medical management.

DISCUSSION:
There are roughly a dozen cases published on the management of dually diagnosed CD/ITP patients. Previous reports postulate that the mechanism of ITP in CD is through the presence of circulating immune complexes in the serum and antigenic mimicry due to increased mucosal permeability in active colitis, which may explain why CD surgery can also result in remission of ITP. Indeed, our literature review identified 1 case where ITP was refractory to steroids and splenectomy, but responded after bowel resection and another case where medically refractory ITP responded to bowel resection alone. These cases, as well as the one we have presented, suggest that colectomy should be considered in the treatment of medically refractory ITP among patients with concomitant CD.
2104 Treatment of Ulcerative Colitis Pan-Enteritis Following Colectomy With Cyclosporine
Authors: Patel Parita , Pekow Joel , Dalal Sushila R. 
Published: October 2019

INTRODUCTION:
Extensive enteritis following colectomy for ulcerative colitis is a rare disease phenotype that is often difficult to treat. Surgical intervention can be prevented with initiation of steroids and calcineurin inhibitors.

CASE DESCRIPTION/METHODS:
An 18-year-old female with ulcerative colitis status post colectomy and restorative ileoanal anastomosis presented with bloody diarrhea two months after her ileostomy closure. An EGD and pouchoscopy demonstrated active inflammation in the duodenum and distal 60 cm of small bowel. Pathology revealed acute and chronic enteritis without evidence of cytomegalovirus. Despite prompt initiation of corticosteroids, blood transfusions, and parenteral nutrition, weight loss, diarrhea and anemia persisted. Brief ICU care was required for hypotension and worsening anemia. Intravenous cyclosporine (CyA) was initiated, maintaining a goal range of 300-400 ng/mL. Within 48 hours of cyclosporine salvage therapy, bloody diarrhea, enteral intake and anemia improved. She was discharged on oral prednisone taper and oral CyA, with plans to initiate azathioprine for maintenance of remission.

DISCUSSION:
Ulcerative colitis is defined as inflammation of the colon and rectum only. However, a variant of small bowel inflammation, referred to as ulcerative colitis- related pan enteritis, has been recently identified, with symptoms of nausea, abdominal pain, and bloody diarrhea typically occurring after several months after colectomy. Although the pathogenesis is unknown, some have hypothesized that massive cytokine mediated inflammatory response may continue after colectomy. Endoscopy and pathologic examination are essential for diagnosis with evidence of superficial, continuous ulcerative mucosal inflammation in the stomach and/or small bowel. Lack of aphthous ulcers, skip lesions and strictures can distinguish this entity from Crohn’s disease. The majority of patients will respond to intravenous corticosteroids, but use of calcineurin inhibitors in refractory cases has been reported. Long term management remains undefined, but a recent case series has reported success with use of azathioprine to maintain remission. We report a rare case of ulcerative colitis pan enteritis refractory to corticosteroid therapy, but responsive to intravenous CyA. This should be considered in the differential diagnosis for patients with signs of small bowel inflammation after a colectomy for ulcerative colitis. Prompt recognition and treatment can prevent unnecessary surgical interventions.
2108 CD4 Levels and Viral Load During Ulcerative Colitis Flares in Patients With HIV: A Case Series
Authors: Arroyo-Mercado Fray Martin M. , Likhtshteyn Michelle , Huynh Chi Doan , Chokshi Tanuj , Chawla Gurasees S. , Grossman Evan B. , Ramirez Miguel , Martinez Hector Ojeda 
Published: October 2019

INTRODUCTION:
Accumulating evidence indicates an association between CD4 count and Ulcerative colitis (UC) flares in patients with Human Immunodeficiency Virus (HIV)[1,4], whereby patients who have low CD4 counts are less likely to experience UC flares compared to those who have normal CD4 counts. While the exact mechanism is unknown, it is hypothesized that an immunosuppressed state allows for the remission of UC; this idea has been deemed the “Remission Hypothesis” [1].

CASE DESCRIPTION/METHODS:
Objective: To present a case series of 3 patients with concomitant HIV and Ulcerative Colitis (UC) and examine the association between UC flares, CD4 counts and viral load over time.

METHODS:
Patient records at two urban university-affiliated medical centers were queried for patients with concomitant HIV and UC. ICD 9 and ICD 10 diagnostic codes for HIV and UC were used to identify patients. Inclusion criteria were confirmed UC via endoscopy, outpatient follow up, viral load and CD4 count documentation. CD4 counts and viral loads levels were compared during hospitalizations and outpatient follow-ups.

RESULTS:
7 patients with UC and HIV were identified; 3 of these 7 patients had sufficient data available for further analysis. Our three patients lived with HIV for an average of 10 years. Patient 1 experienced 4 UC flares requiring inpatient hospitalizations while maintaining CD4 counts above 250 cells/µL and undetectable viral loads (Table 1). Patient 2 had five UC flares with CD4 counts above 250 cells/µL; an undetectable viral load was noted during 4 of the UC flares (Table 2). Patient 1 had two flares with CD4 counts above 250 cells/µL; the viral load was undetectable during flares (Table 3).

DISCUSSION:
The remission hypothesis suggests that patients who have concomitant HIV and UC can experience remission of their inflammatory bowel disease as their CD4 count declines [1]. HIV viral load is a more accurate and more important marker of HIV disease progression, and therefore, a relationship between viral load and UC flares need to be further studied. Our patients continued to experience flares despite suppressed viral load, and CD4 counts above 250 cells/µL. This case series is the first study that considers viral load and CD4 counts when considering IBD flares and disease progression. These findings raise the question of whether IBD flares occurs as a consequence of CD4 count above 250 or low viral load. Further studies with larger populations are needed to elucidate the pathophysiology of IBD and HIV coexistence.
2117 Anal Squamous Cell Carcinoma Presenting as a Rectal Mass
Authors: Kalinoski Thomas , Singh Simi 
Published: October 2019

INTRODUCTION:
Anal squamous cell carcinoma (SCC)typically presents as an anal mass. It rarely presentsin the rectumalone. Limited literature exists to discuss regarding optimal management for this unique presentation. We present a patient withanal SCC manifesting as a rectal mass and reviewher management.

CASE DESCRIPTION/METHODS:
A 73 year-old woman with esophageal reflux presented to our office with chronicrectal bleedingand constipation.She denied anal pain. Colonoscopy revealed a 1.2 cm massin the anterior rectum, 2 cm from the anal verge (Figure 1). Biopsies revealed focally invasive nonkeratinizing SCC (Figure 2). On rectal endoscopic ultrasound (EUS), the mass was confined to the anus andextended from the anorectal canal into the rectum (Figure 3). Submucosal invasion was noted, but not through the rectal muscularis propria. PET CT showed no perirectal invasion, lymphadenopathy, metastatic disease orother sources of primary SCC. Final staging was T2N0. She underwentchemoradiationwith5-fluorouricil and mitomycin. Surgery was deferred to preserve anal function.Her tumor showed a complete response after 6 weeks and she is currently being followed with routine surveillance.

DISCUSSION:
Anal SCC makes up2.6% of digestive system cancers in the United States, but its incidence is rising in men and women, possibly due to changes in sexual behavior and increasing rates of HPV exposure. Gastroenterologists should recognizeatypical presentations ofanal SCC, especially in high-risk populations: men who have sex with men, HIV positive patients, and women with high risk HPV. Rectal bleeding and altered bowel habits arethe most commonlyreported symptoms. Other symptoms include anal mass, pain, itching, and mucous discharge, but up to 20% of patients with anal cancer are asymptomatic. The absence of anal pain and external lesions as well as the rectal mass on in our patient suggested an alternative diagnosis. Given that management of rectal cancer has traditionally centered around resection, this emphasizes the utility of EUS to make the correct diagnosis and direct management. The management of this unique presentation of anal SCC has not been fully established, but our patient received standard chemoradiation with good results. Anal SCC has a range of presentations and can present as a rectal mass. Given that anal SCC rates are increasing, our case highlights the importance of disease screening, recognition, and prevention.
2118 A Challenging Case of Recurrent Rectal Adenoma Despite Multiple Endoscopic Mucosal Resections (EMRs) and Trans-Anal Endoscopic Microsurgeries (TEMS)
Authors: Syed Tausif A. , Enslin Sarah , Tirumanisetty Pratyusha , Fleming Fergal , Kaul Vivek 
Published: October 2019

INTRODUCTION:
Detection and complete removal of colorectal adenomas is essential in reducing the incidence and mortality of cancer. Advanced rectal adenomas can be removed by a number of techniques including Endoscopic Mucosal Resection (EMR), Endoscopic Submucosal Dissection (ESD) and Trans-anal Endoscopic Microsurgery (TEMS). Despite complete resection, local recurrence remains a challenge in some patients. We report a rare case of a recurrent rectal adenoma despite multiple EMRs and TEMS procedures over a 5-year period.

CASE DESCRIPTION/METHODS:
A 63-year female was referred for EMR of a 2 cm rectal adenoma found on screening colonoscopy 5 years ago (Figure 1). Colonoscopy with en-bloc EMR was done without difficulty. On 6-month follow-up a recurrent adenoma was seen at EMR site. En-bloc EMR was again performed followed by argon plasma coagulation (APC) ablation of edges. Follow-up flexible sigmoidoscopy 6-months later again showed a recurrent adenoma. Patient was referred for TEMS; full-thickness resection was performed with negative margins on pathology specimen. Surveillance colonoscopy 6 months after TEMS revealed recurrent adenoma at the TEMS site. TEMS was repeated. Follow-up endoscopic examination and biopsy 2 months and 1 year after the second TEMS revealed no evidence of lesion recurrence (Figure 2). However her most recent colonoscopy, 3 years after the second TEMS, showed a recurrent 6 mm sessile adenoma at same site (Figure 3). After multidisciplinary consultation, she is scheduled to undergo a third TEMS procedure.

DISCUSSION:
The reported incidence of recurrent rectal adenoma is 4-11%. Factors affecting local recurrence include size of index polyp and completeness of resection. Despite complete resection, some patients will develop repeated recurrence. Ramkumar et al. reported 669 patients who underwent TEMS for treatment of rectal lesions; 15 pts required 3 or more TEMS procedures. Repeat TEMS was shown to be safe with similar postoperative complications and similar rates of margin clearance (81% vs 88%, P = 0.09) compared to primary TEMS
1
. In our patient, a rectal adenoma recurred despite 2 en-bloc EMRs and 2 TEMS. This demonstrates the need for close surveillance and the importance of a multi-disciplinary treatment approach in these patients.
2138 Percutaneous Endoscopic Jejunostomy Tube Placement for Treatment of Severe Hyperemesis Gravidarum in Pregnancy: Case Report and Review
Authors: Kruchko David H. , Shah Natasha , Broy Charles , Silas Dean N. 
Published: October 2019

INTRODUCTION:
Hyperemesis gravidarum (HG) is a severe complication of pregnancy that occurs in up to 2% of pregnancies nationwide. Symptoms range from nausea and vomiting, leading to dehydration, electrolyte imbalances, and ultimately, fetal and maternal compromise. Medical management is not always adequate for symptomatic control with HG patients and enteral feeding is required via a nasoenteric or percutaneous endoscopic gastrostomy (PEG) tube. We present a rare case of a pregnant female with HG that failed the mentioned above therapy and required a percutaneous endoscopic transgastric-jejunostomy (PEG-J) tube for post pyloric feeding.

CASE DESCRIPTION/METHODS:
A 27-year-old-female with a past medical history of HG in all prior pregnancies required nasojejunal (NJ) tube placement at approximately 20 weeks gestation due to weight loss from 30 episodes of emesis daily. She developed a posterior oropharyngeal ulcer requiring NJ tube removal. The decision to bypass intra-gastric feeding with a PEG-J tube was determined to be the best option for nutrition. A 24Fr PEG was placed, and a 12Fr jejunostomy catheter was passed through the PEG into the jejunum (A). Unfortunately, she returned as an outpatient 12 later with worsening symptoms. Abdominal radiograph revealed the jejunal portion of the tube to be in the distal stomach (B). The patient underwent a repeat upper endoscopy and PEG-J tube dislodgement was confirmed. The PEG-J was removed and an externally removable 22Fr low-profile PEG-J tube was placed using the existing gastrostomy stoma. Proper position of the tube was confirmed and the distal tip was secured to the jejunal wall with three hemoclips (C). The patient and fetus tolerated the procedure without complication and she went on to receive tube feeds through the PEG-J tube for the remaining 18 weeks of pregnancy. The PEG-J tube was removed with manual traction post-partum day 1 at the bedside after the patient was asymptomatic and tolerating general diet.

DISCUSSION:
There is very little recent literature on refractory HG cases requiring PEGJ-tube placement. This case demonstrates the importance of following a stepwise approach for nutritional support in refractory HG patients and that low-profile PEG-J can be a well-tolerated and safe treatment modality option in those who have failed conservative therapy. As seen in this case, PEG-J tube dislodgement is a potential complication but can be prevented effectively with hemoclips and therefore should not be a limiting factor for placement of PEG-J tube.
2142 Endoscopic Management Cases for Small Bowel Obstruction
Authors: Urakawa Shinya , Kono Yohei , Momose Kota , Alzghari Talal , Milsom Jeffrey 
Published: October 2019

INTRODUCTION:
Small bowel obstruction (SBO) is a common disease in the gastrointestinal surgery field. Although causes of SBO are highly variable, surgical management is usually selected for adhesive obstruction if nasogastric tube decompression has failed. There have been no reports of endoscopic cure for SBO, despite several reports of endoscopic management of colonic voluvulus or malignant colonic obstruction. Here we report three cases in which endoscopic reduction was safely performed for SBO.

CASE DESCRIPTION/METHODS:
Case1: An 86-year-old woman developed obstruction one month after right hemicolectomy for colorectal cancer. Preprocedural CT scan imaging detected a lumen caliber change near the ileocolonic anastomosis, and no recovery sign was acquired even after decompression treatment by nasogastric tube for 3 days. Colonoscopy with fluoroscopy showed ileum kinking at 10 cm proximal from the anastomosis. Case2: A 68-year-old woman developed obstruction during hospitalization for myelodysplastic syndrome. She had past surgcal history of 7 caesarean sections. Preprocedural CT scan imaging showed terminal ileum with transition point at 20 cm from ileocecal valve. Colonoscopy was performed after one week of conservative management. Colonoscopy with fluoroscopy revealed strong angulation and stricture accompanied by ulcerations at the terminal ileum. Case3: A 79-year-old woman developed obstruction one year after cystectomy with Indiana pouch reconstruction for bladder cancer. There was no improvement sign after 5 days of nasogastric tube and supportive treatment. Colonoscopy with fluoroscopy revealed ileum kinking 20 cm proximal to the ileocolic anastomosis, consistent with preprocedural imaging. In all 3 cases, the scope passed through the obstruction site following insertion of a guide wire and stiff catheter through above the obstruction area. All obstructions were successfully released. The passage of the contrast intraoperatively through the site was clearly observed. In Case 3 was added balloon dilation after the endoscope withdrawal. All patients were discharged without additional surgery or postprocedural complications, with 1.5-4 months follow up.

DISCUSSION:
We report three cases in which endoscopic treatment safely treated for SBO likely due to adhesions. Endoscopic management could release the obstruction earlier than predictable course in these three cases. These cases show the potential for endoscopic treatment to replace surgical treatment in a certain type of SBO.
2149 Successful Stenting of the Common Bile Duct Through an Ectopic Ampulla of Vater in the Pylorus
Authors: Markel Nathan L. , Nguyen Vu N. 
Published: October 2019

INTRODUCTION:
The ampulla of Vater comprises the choledochopancreatic junction and sphincter of Oddi, traversing the posteromedial wall of the descending duodenum via the major papilla. Ectopic gastric ampullae are rare, and since the 16th century, pyloric ampullae of Vater are only documented in a handful of case reports
1
. We present a case of an extremely rare ectopic ampulla of Vater in the pylorus through which successful stenting of the common bile duct (CBD) was performed during ERCP.

CASE DESCRIPTION/METHODS:
A 51-year-old man presented with nausea, vomiting, and midepigastric pain radiating to the back. He was tachycardic to 117 bpm with right upper quadrant tenderness on exam. Labs showed WBC 13.5 × 109/L, AST 123 IU/L, ALT 186 IU/L, ALP 722 IU/L, lipase of 195 IU/L, and total bilirubin of 3.1 mg/dL. Contrast CT revealed a distended gallbladder with wall thickening and pericholecystic fluid, intrahepatic and extrahepatic biliary dilatation, and calcified CBD stones with pancreatic duct dilatation. Ultrasound confirmed a sonographic Murphy sign and a 9 mm CBD. After receiving intravenous ciprofloxacin and metronidazole, he underwent ERCP. Initial attempts to locate the ampulla in the duodenum were unsuccessful with a side-viewing scope. Eventual use of a forward-viewing scope identified the ampulla and a clean based ulcer in the pylorus. Purulent drainage was observed following sphincterotomy and balloon extraction. A 7 French x 5 cm stent was carefully deployed in the CBD. Prior to discharge, the patient underwent uncomplicated laparoscopic cholecystectomy. Stent was successfully retrieved 6 weeks later, again using the forward-viewing scope. Biopsies of the ampulla and ulcer confirmed acute and chronic gastritis negative for H. pylori or malignancy.

DISCUSSION:
As in the present case, literature suggests a recurrent triad of choledocholithiasis, cholangitis, and ulcer disease, perhaps due to reflux of gastric secretions into the hepatobiliary tree and increased mucosal exposure to pancreaticobiliary secretions. To the authors’ knowledge, this case possibly represents the first successful stenting of the CBD through an ectopic ampulla of Vater in the pylorus, proving that this can be a safe and effective option. Gastroenterologists should be aware of ectopic anatomy when the ampulla cannot be located in the duodenum.