Performance of Interferon-Gamma Release Assays for Tuberculosis Screening in Pediatric Inflammatory Bowel Disease.

OBJECTIVES: The aim of the study was to analyze the diagnostic accuracy and utility of QuantiFERON-TB Gold In-Tube, an interferon-gamma release assay (IGRA), as a screening tool for latent tuberculosis infection (LTBI) in pediatric patients with inflammatory bowel disease (IBD) undergoing treatment with anti-tumor necrosis factor (anti-TNF) medications. To describe cases of tuberculosis in the pediatric IBD population, TB treatment courses, outcomes, and their effect on IBD management. METHODS: A single-center, retrospective cohort study of pediatric IBD patients who underwent tuberculosis screening. IGRA testing from 2011 to 2017 were analyzed to determine result rates, characteristics, and outcomes. RESULTS: One thousand seven hundred fifty-four (1,754) tests were performed on 859 patients. One thousand six hundred thirty-four (1,634) tests were negative, 9 were positive, and 111 were indeterminate. Eight of 9 positive tests resulted during repeat annual screening while receiving IBD treatment. Five patients were treated for latent tuberculosis infection (LTBI), and 4 were false-positives. IBD therapy was interrupted in 3 patients, with no negative long-term outcomes. We report 1 known false-negative, in a patient who developed disseminated TB on anti-TNF therapy. Indeterminate testing rates were higher at IBD diagnosis than during treatment (10.3% vs 5.3%, P < 0.001). Follow-up testing of indeterminate results was negative in all patients retested, with 14 patients lost to follow-up. No patient with indeterminate testing developed TB. CONCLUSIONS: IGRAs are a useful tool to screen for LTBI, both before anti-TNF therapy and during treatment. Results should be used in concert with detailed history and examination. Positive and indeterminate results should be promptly repeated for timely TB diagnosis and to minimize interruptions in IBD therapy.

Mycobacterium tuberculosis concealed by enterococcal sacroiliitis.

A 77-year-old African American female with rheumatoid arthritis presented with fever and unsteady gait. She was started on broad-spectrum antimicrobials due to CT evidence for sacroiliitis and psoas abscess and underwent partial excision of her sacroiliac bone and drainage of the abscess. One of four blood cultures grew Enterococcus faecalis and the patient was sent home with intravenous ampicillin for 6 weeks. Two days after antimicrobial completion, the patient presented with night sweats and weakness. Chest x-ray revealed new right upper lobe pulmonary infiltrates, and the AFB culture sent during her prior admission returned positive for TB. RIPE therapy with moxifloxacin was initiated. Although she responded well to treatment, she retained functional immobility. We report a case of musculoskeletal TB initially misdiagnosed as enterococcus sacroiliitis, resulting in a delayed initiation of anti-tuberculous therapy. A high index of suspicion and rapid detection with TB-PCR testing should be considered to avoid delayed diagnosis.

Metastatic breast cancer presenting as acute liver injury: diagnostic dilemma in the setting of suspected hemochromatosis.

A 70-year-old female with a history of lobular carcinoma of the breast, status post-mastectomy followed by adjuvant radio-chemotherapy in remission for 4 years was admitted with the features of acute liver failure (ALF). Iron studies revealed a hemochromatosis picture and the CT and MRI scans of the abdomen suggested cirrhosis. An extensive workup failed to identify an etiology. A trans-jugular liver biopsy was obtained and revealed poorly differentiated carcinoma consistent with the metastasis of breast primary. The patient's condition deteriorated and died within a week following the onset of acute hepatic failure. DNA testing revealed that the patient was heterozygous for H63D mutation. In cases of ALF with the suspicion of malignancy, liver biopsy should be obtained to evaluate an infiltrative hepatic disease.

Abdominal Malignancy with Skin Manifestation and Thromboembolic Disease: An Unusual Presentation.

A 55-year-old male presented to our hospital with shortness of breath and leg swelling. Imaging studies revealed deep vein thrombosis and bilateral pulmonary embolism. The patient was placed on anticoagulation. A palpable umbilical nodule consistent with the appearance of Sister Mary Joseph's nodule (SMJN) raised the possibility of an underlying gastrointestinal malignancy. The patient also had significant ascites and underwent paracentesis with cytology, upper gastrointestinal and lower gastrointestinal endoscopy with the biopsy. Gastric lesion histology revealed gastric adenocarcinoma with peritoneal and colonic metastases. The patient was started on chemotherapy with 5-fluorouracil, leucovorin, oxaliplatin (FOLFOX) for disseminated gastric malignancy. SMJN is a rare cutaneous metastatic manifestation which needs to be considered as a differential diagnosis of an umbilical tumor for prompt diagnosis and initiation of treatment.

Acute Post-stroke Hemiparkinsonism and Hemiparesis: A Unique Case with Successful Therapy.

The diagnosis of a new onset movement disorder after a stroke has important clinical implications. The early assessment and timely diagnosis of post-stroke disorders is essential for influencing long-term outcomes. Localizing lesions and determining the underlying etiology is vital in targeting appropriate therapy. New and sudden onset of hemiparkinsonism with hemiparesis, rigidity, and tremor following an acute ischemic stroke is described here. This presentation was clinically diagnosed as acute post-stroke parkinsonism (APSP). The patient's level of impairment was significant enough to compromise his activities of daily living (ADL), physical therapy (PT), and occupational therapy (OT) in an inpatient rehabilitation center. In the inpatient rehabilitation center, the patient received a trial of levodopa for suspected APSP. After levodopa therapy was initiated, we observed an improvement of his parkinsonian features with a sustained response and reached the conclusion that the clinical recognition of post-stroke parkinsonism treated with a targeted trial with levodopa may improve the quality of life. Proper treatment of APSP has the potential to provide the best opportunity for recovery and positively influence the long-term outcomes in similar patients.

"Look Before You Leap": Robotic Resection of a Jejunal Mesenteric Pseudocyst.

A rare case of a jejunal mesenteric pseudocyst treated by robotic resection is reported. A 25-year-old woman was admitted to our hospital with intermittent abdominal discomfort which was exacerbated by strenuous physical activities. Physical examination revealed a fluctuant mass without tenderness. Contrast-enhanced computed tomography revealed a 4 cm-sized non-enhancing heterogeneous mass on a proximal small bowel loop mesentery. Based on the findings, a differential diagnosis of a gastrointestinal stromal tumor, hematoma, desmoid tumor, and mesenteric cyst was made. Robotic diagnostic laparoscopy was performed to obtain an accurate diagnosis and treatment. Exploration of the cavity revealed a 4 cm fairly mobile mass originating from the mesentery of the jejunum. Segmental resection of the jejunum and its mesentery, including the mass and extracorporeal anastomosis, was performed without any complications. Macroscopically, the mass was cystic and the lumen had grumous material. The final pathological diagnosis was a mesenteric pseudocyst. The patient had an uneventful postoperative course.

A diagnostic dilemma of appendicular mass in an elderly patient: a case report and literature review.

Primary appendicular adenocarcinoma is a rare tumor, mucinous variety, being most common. The case presentation highlights the unusual appearance and diagnostic dilemma of an appendicular adenocarcinoma. Our elderly patient presented with an ill-defined tender lump which later was diagnosed as a perforated appendicular adenocarcinoma, responsive to single-staged surgery and adjunct chemotherapy. We considered the single-staged surgery since the appendix was perforated and right colectomy would not aid the prognosis. High index of clinical suspicion for malignancy should be kept in mind for elderly patients presenting with an appendicular lump. Every effort should be made during the elective surgery to remove the mass during the single-staged surgery.

Cured by Da Vinci Xi: meticulous dissection of an infected urachal cyst presenting with lower urinary tract symptoms in an adult.

An unusual finding in an adult patient with an infected urachal cyst, was treated surgically using the Da Vinci robot. A 26-year-old woman was admitted to our hospital with complaints of lower abdominal pain and burning sensation with urination. She was diagnosed with lower urinary tract infection, treatment did not help her symptoms and further evaluation of CT revealed complex enhancing mass superior to the urinary bladder. The differentials included inflammatory cause such as an abscess, neoplastic mass, urachal cyst, vitello intestinal fistula and urachal sinus. Da Vinchi robotic diagnostic laparoscopy was performed to obtain an accurate assessment and treatment. After cystoscopy followed by laparoscopic exploration of the abdominal and pelvic cavity further helped to narrow down a diagnosis of remnants of urachus. Pathology of the excised specimen showed inflammation without evidence of malignancy and confirmed Urachal cyst. The patient had an uneventful post-operative course.

Evolution of Pediatric Inflammatory Bowel Disease Unclassified (IBD-U): Incorporated With Serological and Gene Expression Profiles.

Background: Inflammatory bowel disease (IBD) mainly consists of Crohn's disease (CD) and ulcerative colitis (UC). About 10%-15% of patients with IBD cannot be firmly diagnosed with CD or UC; hence, they are initially diagnosed as inflammatory bowel disease unclassified (IBD-U). Having a firm diagnosis is clearly preferred to guide treatment choices, and better understanding of the nature of IBD-U is required. Methods: We performed an analysis of a subset of pediatric subjects from an inception IBD cohort of patients initially enrolled in a prospective multicenter study (the RISK study). Initial diagnosis and 2-year follow-up data from the subjects diagnosed with IBD-U were analyzed. An expert panel verified final diagnosis using predefined criteria as a guide. Serological and disease-relevant ileal and rectal tissue gene expression profiles were investigated. The use and the time to initiate anti-TNFα treatment was analyzed among the outcome groups. Results: A total of 1411 subjects were enrolled with initial diagnosis of IBD, and among them, 136 subjects were initially diagnosed as IBD-U at enrollment. And 26% were reclassified as UC and 14% as CD within 2 years of diagnosis, while 60% remained as IBD-U. Of those who were reclassified, there was a 2:1 ratio, UC (n = 35) to CD (n = 19). The molecular and serological features of IBD-U at the end of follow-up were very similar to UC and very different from CD. There was less likelihood of receiving anti-TNFα agents if the diagnosis was IBD-U compared with CD (P < 0.0001). Conclusions: In our cohort, 60% of the IBD-U subjects remained as unclassified at 2 years; of those subsequently classified, a higher percentage followed a course more similar to UC. Most of the IBD-U subjects at diagnosis had serological and molecular signatures that are very similar to UC. Although the atypical presentations made the clinician to make an interim diagnosis of IBD-U, results of the molecular and serological factors performed at the time of diagnosis suggests that they were very similar to UC. However, long-term studies are needed to better understand the natural history and molecular characterization of pediatric onset IBD-U. 10.1093/ibd/izy136_video1Video 1.Video 1. Watch now at https://academic.oup.com/ibd/article-lookup/doi/10.1093/ibd/izy136izy136.video15791389938001.