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Richard A. King - One of the best experts on this subject based on the ideXlab platform.
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Diagnosis of Oculocutaneous Albinism With Molecular Analysis
American Journal of Ophthalmology, 1996Co-Authors: C. Gail Summers, William S. Oetting, Richard A. KingAbstract:Purpose To use Molecular Analysis to diagnose oculocutaneous albinism in a patient with an atypical clinical presentation. Methods A 34-year-old woman with a history of strabismus and absent cutaneous pigment underwent comprehensive ophthalmic examination, visual-evoked potentials to detect altered optic decussation, and Molecular Analysis. Results Examination showed fine nystagmus, iris transillumination, foveal hypoplasia, and corrected visual acuity of 20/25 in each eye. Misrouting of the retinostriate fibers was demonstrated with visual-evoked potentials. Mutations in the tyrosinase gene established the diagnosis of oculocutaneous albinism 1 even though the patient had atypical clinical features. Conclusion Molecular Analysis can establish the diagnosis of oculocutaneous albinism 1 in the patient with atypical ocular features.
François Tremblay - One of the best experts on this subject based on the ideXlab platform.
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Correlation between electroretinogram findings and Molecular Analysis in the Duchenne muscular dystrophy phenotype.
British Journal of Ophthalmology, 1994Co-Authors: I. De Becker, D Christine Riddell, Joseph M Dooley, François TremblayAbstract:Fifteen consecutive patients with the Duchenne muscular dystrophy (DMD) phenotype were studied. Each patient was asked to undergo an ophthalmic examination, an electroretinogram (ERG), and to donate a blood sample for Molecular diagnosis. All 15 patients had a normal ophthalmic examination. Electroretinography was successful in 14/15 patients. The ERG tracings were normal in seven patients, abnormal in seven, and unreliable in one. Blood for Molecular Analysis was obtained in 12/15 patients. In the seven patients with a normal ERG, five underwent Molecular Analysis, and in these five no deletion was detected in the dystrophin gene. In the seven patients with an abnormal ERG, six had Molecular Analysis available, and all six were found to have a deletion. These results suggest that patients with a classic DMD phenotype are genetically heterogeneous, and that this heterogeneity is reflected in the ERG.
Joseph M Dooley - One of the best experts on this subject based on the ideXlab platform.
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Correlation between electroretinogram findings and Molecular Analysis in the Duchenne muscular dystrophy phenotype.
British Journal of Ophthalmology, 1994Co-Authors: I. De Becker, D Christine Riddell, Joseph M Dooley, François TremblayAbstract:Fifteen consecutive patients with the Duchenne muscular dystrophy (DMD) phenotype were studied. Each patient was asked to undergo an ophthalmic examination, an electroretinogram (ERG), and to donate a blood sample for Molecular diagnosis. All 15 patients had a normal ophthalmic examination. Electroretinography was successful in 14/15 patients. The ERG tracings were normal in seven patients, abnormal in seven, and unreliable in one. Blood for Molecular Analysis was obtained in 12/15 patients. In the seven patients with a normal ERG, five underwent Molecular Analysis, and in these five no deletion was detected in the dystrophin gene. In the seven patients with an abnormal ERG, six had Molecular Analysis available, and all six were found to have a deletion. These results suggest that patients with a classic DMD phenotype are genetically heterogeneous, and that this heterogeneity is reflected in the ERG.
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findings and Molecular Analysis intheDuchenne muscular dystrophy phenotype
1994Co-Authors: D Christine Riddell, Joseph M DooleyAbstract:Fifteen consecutive patients with theDuchenne muscular dystrophy (DMD)phenotype were studied. Eachpatient wasasked toundergo an ophthalmic examination, anelectroretinogra m (ERG),andtodonate a bloodsamplefor Molecular diagnosis. All15patients hada normalophthalmic examination. Electroretinography wassuccessful in14/15 patients. TheERG tracings werenormalinseven patients, abnormal inseven, andunreliable inone.BloodforMolecular Analysis was obtained in12/15patients. Intheseven patients withanormalERG,five underwent Molecular Analysis, andinthesefiveno deletion wasdetected inthedystrophin gene. Inthesevenpatients withanabnormal ERG, sixhadMolecular Analysis available, andali six werefoundtohaveadeletion. Theseresults suggest thatpatients witha classic DMD phenotype aregenetically heterogeneous, and that this heterogeneity isreflected intheERG. (BrJOphthalmol 1994; 78:719-722) DMD havenoidentifiable deletion inthedystrophingene,3 wechose tostudy 15consecutive patients withDMD phenotype, rather thanonly those withaproved deletion. We report on theophthalmic findings, theERG,andthe Molecular Analysis inthese subjects.
Douglas K. Pleskow - One of the best experts on this subject based on the ideXlab platform.
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Comparison of carcinoembryonic antigen and Molecular Analysis in pancreatic cyst fluid
Gastrointestinal Endoscopy, 2009Co-Authors: Mandeep Sawhney, Shiva Devarajan, Paul O'farrel, Marcelo De Souza Cury, Rabi Kundu, Charles M. Vollmer, Alphonso Brown, Ram Chuttani, Douglas K. PleskowAbstract:Background Pancreatic-cyst fluid carcinoembryonic antigen (CEA) levels and Molecular Analysis are useful diagnostic tests in differentiating mucinous from nonmucinous cysts. Objective To assess agreement between CEA and Molecular Analysis for differentiating mucinous from nonmucinous cysts. Design Retrospective Analysis. Setting Academic medical center. Methods Patients who underwent EUS-guided FNA for evaluation of pancreatic cysts were identified. The following information was used to designate a cyst mucinous: the CEA criterion was CEA level ≥192 ng/mL and the Molecular Analysis criteria were DNA quantity ≥40 ng/μL and/or k-ras 2-point mutation and/or ≥2 allelic imbalance mutations. Pathologic Analysis of cysts served as the criterion standard. Results From 2006 to 2007, 100 patients met the study criteria. The average age of the patients was 63 years, 65% were women, and 30% were symptomatic. The mean diameter of pancreatic cysts was 2.5 cm. The median CEA value was 83 ng/mL (range 1-50,000 ng/mL), the mean DNA content was 16 ng/μL (range 1-212 ng/μL), 11% had K- ras mutations, and 43% had ≥2 allelic imbalance mutations. When using prespecified criteria, there was poor agreement between CEA and Molecular Analysis for the classification of mucinous cysts (kappa = 0.2). Poor agreement existed between CEA and DNA quantity (Spearman correlation=0.2; P = .1), K- ras mutation (kappa = 0.3), and ≥2 allelic imbalance mutations (kappa = 0.1). Of the 19 patients for whom a final pathologic diagnosis was available, CEA had a sensitivity of 82% compared with 77% for Molecular Analysis. When CEA and Molecular Analysis were combined, 100% sensitivity was achieved. Limitations Retrospective Analysis and small sample size. Conclusion There was poor agreement between CEA levels and Molecular Analysis for diagnosis of mucinous cysts. Diagnostic sensitivity was improved when results of CEA levels and Molecular Analysis were combined.
D Christine Riddell - One of the best experts on this subject based on the ideXlab platform.
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Correlation between electroretinogram findings and Molecular Analysis in the Duchenne muscular dystrophy phenotype.
British Journal of Ophthalmology, 1994Co-Authors: I. De Becker, D Christine Riddell, Joseph M Dooley, François TremblayAbstract:Fifteen consecutive patients with the Duchenne muscular dystrophy (DMD) phenotype were studied. Each patient was asked to undergo an ophthalmic examination, an electroretinogram (ERG), and to donate a blood sample for Molecular diagnosis. All 15 patients had a normal ophthalmic examination. Electroretinography was successful in 14/15 patients. The ERG tracings were normal in seven patients, abnormal in seven, and unreliable in one. Blood for Molecular Analysis was obtained in 12/15 patients. In the seven patients with a normal ERG, five underwent Molecular Analysis, and in these five no deletion was detected in the dystrophin gene. In the seven patients with an abnormal ERG, six had Molecular Analysis available, and all six were found to have a deletion. These results suggest that patients with a classic DMD phenotype are genetically heterogeneous, and that this heterogeneity is reflected in the ERG.
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findings and Molecular Analysis intheDuchenne muscular dystrophy phenotype
1994Co-Authors: D Christine Riddell, Joseph M DooleyAbstract:Fifteen consecutive patients with theDuchenne muscular dystrophy (DMD)phenotype were studied. Eachpatient wasasked toundergo an ophthalmic examination, anelectroretinogra m (ERG),andtodonate a bloodsamplefor Molecular diagnosis. All15patients hada normalophthalmic examination. Electroretinography wassuccessful in14/15 patients. TheERG tracings werenormalinseven patients, abnormal inseven, andunreliable inone.BloodforMolecular Analysis was obtained in12/15patients. Intheseven patients withanormalERG,five underwent Molecular Analysis, andinthesefiveno deletion wasdetected inthedystrophin gene. Inthesevenpatients withanabnormal ERG, sixhadMolecular Analysis available, andali six werefoundtohaveadeletion. Theseresults suggest thatpatients witha classic DMD phenotype aregenetically heterogeneous, and that this heterogeneity isreflected intheERG. (BrJOphthalmol 1994; 78:719-722) DMD havenoidentifiable deletion inthedystrophingene,3 wechose tostudy 15consecutive patients withDMD phenotype, rather thanonly those withaproved deletion. We report on theophthalmic findings, theERG,andthe Molecular Analysis inthese subjects.
