نتایج جستجو برای: sayre
تعداد نتایج: 631 فیلتر نتایج به سال:
A 22 year old male presented to our clinic with history of fatigue and breathlessness for four years. His clinical history had started during early childhood and was characterized by mental retardation. Mental retardation had prevented him from attending the school. Patient developed bilateral ptosis when he was thirteen years old. He was also giving history of double vision for the past 6 year...
To establish a noninvasive genetic diagnosing method for Kearns-Sayre syndrome, the authors used the polymerase chain reaction (PCR) technique for detecting mitochondrial DNA (mtDNA) deletions in the platelets and directly sequenced the crossover regions of the deleted mtDNA using the fluorescence-based automated sequencing system. The mtDNA deletions were identified in the platelets of three o...
Diana M. Cave, RN, MSN, CEN, Chair; Tom P. Aufderheide, MD, FAHA; Jeff Beeson, MD; Alison Ellison, BSN; Andrew Gregory, MD; Mary Fran Hazinski, RN, MSN, FAHA; Loren F. Hiratzka, MD, FAHA; Keith G. Lurie, MD; Laurie J. Morrison, MD, MSc; Vincent N. Mosesso, Jr, MD; Vinay Nadkarni, MD, FAHA; Jerald Potts, PhD, FAHA; Ricardo A. Samson, MD; Michael R. Sayre, MD, FAHA; Stephen M. Schexnayder, MD; on...
m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with ME...
The Karolinska Sleepiness Scale (KSS) is frequently used to study sleepiness in various contexts. However, it exists in two versions, one with labels on every other step (version A), and one with labels on every step (version B) on the 9-point scale. To date, there are no studies examining whether these versions can be used interchangeably. The two versions were here compared in a 24 hr wakeful...
The 2011 KSS is a valid clinical TKA questionnaire, but with a low completion rate (42%). Adjustments, focusing on optimizing scale features, are required to improve its clinical use. The low completion rates, non-optimal scale features, lacking rules or a combination of these factors where addressed, leading to the development of the adjusted 2011 KSS (2011 KSS-A). Four-hundred-ninety-nine pri...
Kearns-sayre Syndrome Treated with Permanent Pacemaker Insertion for Complete Atrioventricular Block
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