Rare Diseases Symptoms Automatic Extraction

Spyglass single-operator peroral cholangioscopy seems promising in the evaluation of primary sclerosing cholangitis-related biliary strictures.

[cholangiocarcinoma]

Abstract Early diagnosis of dysplastic changes and exclusion of cholangiocarcinoma (CCA) in patients with primary sclerosing cholangitis (PSC) remain a major clinical challenge. Although SpyGlass single-operator cholangioscopy (SOC) appears effective in diagnostics of indeterminate biliary strictures, there are only few studies on its safety in PSC-related strictures. Objective. The aim of this study was to assess the clinical feasibility of SOC and directed biopsies, flow cytometry, and brush cytology in PSC patients. Materials and methods. Eleven consecutive patients (median age 45 years, 5 females) undergoing SOC for progression of PSC in a single tertiary center were included in a prospective observational study. Results. Brush sample and directed biopsies were successfully acquired from strictures in all cases. Samples were adequate for cytological and histological diagnosis in 9 (82%) and 10 patients (91%), respectively. There were two cases of pancreatitis. In one patient, flow cytometry showed aneuploidy, which resulted in closer follow-up. Conclusions. SpyGlass SOC and directed biopsies seem to offer a feasible and promising method in evaluation of PSC-related strictures. However, the long-term prognostic value it adds to cytology and flow cytometry remains to be assessed in future trials.

Diseases presenting "early diagnosis" symptom

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  • acute rheumatic fever
  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • aromatase deficiency
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dentin dysplasia
  • dentinogenesis imperfecta
  • dracunculiasis
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • gm1 gangliosidosis
  • hirschsprung disease
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • inclusion body myositis
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • krabbe disease
  • locked-in syndrome
  • monosomy 21
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • phenylketonuria
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • triple a syndrome
  • typhoid
  • von hippel-lindau disease
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome

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