BACKGROUND Telomere syndromes have their most common manifestation in idiopathic pulmonary fibrosis and emphysema. The short telomere defect in these patients may manifest systemically as bone marrow ...failure and liver disease. We sought to understand the causes of dyspnea in telomerase and telomere gene mutation carriers who have no parenchymal lung disease. METHODS Clinical and pathologic data were reviewed as part of a Johns Hopkins-based natural history study of short telomere syndromes including dyskeratosis congenita. RESULTS Hepatopulmonary syndrome (HPS) was diagnosed in nine of 42 cases (21%). Their age at presentation was significantly younger than that of cases initially presenting with pulmonary fibrosis and emphysema (median, 25 years vs 55 years; P « .001). Cases had evidence of intra- and extrapulmonary arteriovascular malformations that caused shunt physiology. Nodular regenerative hyperplasia was the most frequent histopathologic abnormality, and it was seen in the absence of cirrhosis. Dyspnea and portal hypertension were progressive, and the median time to death or liver transplantation was 6 years (range, 4-10 years; n = 6). In cases that underwent liver transplantation, dyspnea and hypoxia improved, but pulmonary fibrosis subsequently developed. CONCLUSIONS This report identifies HPS as a frequent cause of dyspnea in telomerase and telomere gene mutation carriers. While it usually precedes the development of parenchymal lung disease, HPS may also co-occur with pulmonary fibrosis and emphysema. Recognizing this genetic diagnosis is critical for management, especially in the lung and liver transplantation setting.
Sarcina , a new threat in the bariatric era Sopha, Sabrina C., MD; Manejwala, Alif, MD; Boutros, Cherif N., MD
Human pathology,
09/2015, Volume:
46, Issue:
9
Journal Article
Peer reviewed
Summary First identified in humans by Goodsir in 1842, Sarcina were already known to cause fatal abomasal bloat in animals. Their pathogenicity in humans has only recently been characterized. Sarcina ...is not inherently pathogenic but, with a gastric ulcer and delayed gastric emptying, can result in perforation. We present a case report of a 32-year-old woman status post–gastric banding presenting with epigastric pain. Upper endoscopy revealed a gastric ulcer near the band. After deflation, upper gastrointestinal series showed passage of contrast and no perforation. Ulcer biopsy showed gastric contents composed of Sarcina . Proton pump inhibitors and antibiotics were administered. Follow-up endoscopy at an outside institution resulted in perforation. This case report supports a growing body of literature that Sarcina organisms contribute to ulcers and perforation. This is the first report of Sarcina in elective bariatric surgery patients, highlighting the high suspicion needed among pathologists evaluating ulcers in this unique surgical population.
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