Mutation screening in patients with isolated cytochrome c oxidase deficiency

Cytochrome c oxidase (COX) deficiency has been associated with a variety of clinical conditions and can be due to mutations in nuclear or mitochondrial genes. Despite recent progress in our understanding of the molecular bases of COX deficiency, the genetic defect remains elusive in many cases. We performed mutation screening in 30 patients with biochemical evidence of isolated COX deficiency and heterogeneous clinical phenotypes. Sixteen patients had various forms of encephalomyopathy, and six of these had the neuroradiological features of Leigh syndrome. Four patients had encephalohepatopathy, six had hypertrophic cardiomyopathy, and four had other phenotypes. We studied the three mtDNA genes encoding COX subunits, the 22 mtDNA tRNA genes, and seven COX assembly genes: SCO1, SCO2, SURF1, COX10, COX11, COX15, and COX17. We report two novel pathogenic SURF1 mutations in a patient with Leigh syndrome and one novel SCO2 mutation in a patient with hypertrophic cardiomyopathy. These data show that heterogeneous clinical phenotypes are associated with COX deficiency, that mutations in mtDNA COX genes are rare, and that mutations in additional genes remain to be identified

Challenges in clinical–pathologic correlations: Acute tubular necrosis in a patient with collapsing focal and segmental glomerulosclerosis mimicking rapidly progressive glomerulonephritis

Herein, we report a case of acute kidney injury (AKI) due to diarrhea-induced acute tubular necrosis (ATN) in a patient with nephrotic syndrome secondary to biopsy-proven collapsing focal and segmental glomerulosclerosis (FSGS). The clinical picture mimicked rapidly progressive glomerulonephritis (RPGN) and motivated pulse therapy with methylprednisolone and cyclophosphamide. The case presentation is followed by a brief overview of the epidemiology of AKI in nephrotic syndrome as well as a discussion of its risk factors and potential mechanisms involved

Automated detection of Barrett’s esophagus using endoscopic images: a survey

Barrett’s Esophagus (BE) is the predominant sign leading to esophageal adenocarcinoma (EAC) which is cancerous. Esophageal cancer has shown a very low survival rate in the last decade. Early detection of BE, and monitoring cells development is an effective way to control the progression of the cell transform into EAC in the lining of the esophagus. The examination of BE is done by using one the different endoscopy tools, the appearance of endoscopic imaging techniques created the opportunity for computer-aided detection (CAD) systems to develop more frequently. Such methods intend to help physicians by identifying abnormalities more accurately. The purpose of this survey is to discuss advances in the development of BE CAD systems as it has only started to grab attention recently. Starting with a brief introduction about endoscopy modalities used for esophageal examination. Then focusing on detection methods lately developed for BE detection. Remaining challenges are mentioned and some directions for future research are given