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Kearns-Sayre

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https://www.readbyqxmd.com/read/30092295/combination-of-microdissection-and-single-cell-quantitative-real-time-pcr-revealed-intercellular-mitochondrial-dna-heterogeneities-in-fibroblasts-of-kearns-sayre-syndrome-patients
#1
Susann Kummer, Ekkehard Wilichowski
Kearns-Sayre syndrome (KSS) is a multisystemic disorder marked by aerobic cell metabolism dysfunction. Fibroblasts derived from KSS patient skin biopsy exhibit heterogeneous occurrence of mitochondrial genomes as those circular DNA molecules partially carry the common deletion. In our approach, we aim to evaluate the intercellular alterations in respect to mitochondrial DNA integrity by laser capture microdissection and multiplex quantitative real-time PCR in single cells. The obtained results give new insights into the understanding of mitochondrial genetics, e...
August 6, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29974349/cerebrospinal-fluid-monoamines-pterins-and-folate-in-patients-with-mitochondrial-diseases-systematic-review-and-hospital-experience
#2
Marta Batllori, Marta Molero-Luis, Aida Ormazabal, Raquel Montero, Cristina Sierra, Antonia Ribes, Julio Montoya, Eduardo Ruiz-Pesini, Mar O'Callaghan, Leticia Pias, Andrés Nascimento, Francesc Palau, Judith Armstrong, Delia Yubero, Juan D Ortigoza-Escobar, Angels García-Cazorla, Rafael Artuch
Mitochondrial diseases are a group of genetic disorders leading to the dysfunction of mitochondrial energy metabolism pathways. We aimed to assess the clinical phenotype and the biochemical cerebrospinal fluid (CSF) biogenic amine profiles of patients with different diagnoses of genetic mitochondrial diseases. We recruited 29 patients with genetically confirmed mitochondrial diseases harboring mutations in either nuclear or mitochondrial DNA (mtDNA) genes. Signs and symptoms of impaired neurotransmission and neuroradiological data were recorded...
July 4, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29871478/kearns-sayre-syndrome-is-genetically-and-phenotypically-heterogeneous
#3
Josef Finsterer, Sinda Zarrouk-Mahjoub
Not available.
May 29, 2018: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
https://www.readbyqxmd.com/read/29731029/heart-block-ptosis-and-diagnostic-funduscopic-examination-problems-of-the-heart-seen-through-the-eyes
#4
Cornelius Rodney Ramcharan
Mitochondrial diseases are complex and rare clinical entities that can sometimes be diagnosed by their constellation of simple clinical signs. We describe a 24-year-old insulin-dependent diabetic women who was diagnosed with complete heart block and required permanent pacemaker implantation. Astute physical examination revealed opthalmoparesis, ptosis, and pigmentary retinopathy consistent with a diagnosis of Kearns-Sayre syndrome. When a young patient presents with complete heart block, a neurologic examination including funduscopy can identify Kearns-Sayre syndrome, which has far-reaching consequence for the index patient and offspring...
May 2018: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29594260/endocrine-disorders-in-primary-mitochondrial-disease
#5
Iman S Al-Gadi, Richard H Haas, Marni J Falk, Amy Goldstein, Shana E McCormack
Context: Endocrine disorders are common in individuals with mitochondrial disease. To develop evidence-based screening practices in this high-risk population, updated age-stratified estimates of the prevalence of endocrine conditions are needed. Objective: To measure the point prevalence of selected endocrine disorders in individuals with mitochondrial disease. Design Setting and Patients: The North American Mitochondrial Disease Consortium Patient Registry is a large, prospective, physician-curated cohort study of individuals with mitochondrial disease...
April 1, 2018: Journal of the Endocrine Society
https://www.readbyqxmd.com/read/29534959/the-urinary-organic-acids-profile-in-single-large-scale-mitochondrial-dna-deletion-disorders
#6
Michela Semeraro, Sara Boenzi, Rosalba Carrozzo, Daria Diodato, Diego Martinelli, Giorgia Olivieri, Giacomo Antonetti, Elisa Sacchetti, Giulio Catesini, Cristiano Rizzo, Carlo Dionisi-Vici
Single large-scale mitochondrial DNA deletions disorders are classified into three main phenotypes with frequent clinical overlap: Pearson marrow-pancreas syndrome (PMS), Kearns-Sayre syndrome (KSS) and chronic progressive external ophtalmoplegia (PEO). So far, only few anecdotal studies have reported on the urinary organic acids profile in this disease class. In this single-center retrospective study, we performed quantitative evaluation of urinary organic acids in a series of 15 pediatric patients, 7 with PMS and 8 with KSS...
June 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29502391/kearns-sayre-syndrome-with-facial-and-white-matter-extensive-involvement-a-mitochondrial-and-nuclear-gene-related-neurocristopathy
#7
Agostino Berio, Attilia Piazzi, Carlo Enrico Traverso
The Authors report on a patient with Kearns-Sayre syndrome, large mtDNA deletion (7/kb), facial abnormalities and severe central nervous system (CNS) white matter radiological features, commonly attributed to spongy alterations. The common origin from neural crest cell (NCC) of facial structures (cartilagineous, osseous, vascular and of the peripheral nervous system) and of peripheral glia and partially of the CNS white matter are underlined and the facial and glial abnormalities are attributed to the abnormal reproduction/migration of NCC...
December 15, 2017: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
https://www.readbyqxmd.com/read/29423831/targeted-versus-untargeted-omics-the-cafsa-story
#8
Maria Del Mar Amador, Benoit Colsch, Foudil Lamari, Claude Jardel, Farid Ichou, Agnès Rastetter, Frédéric Sedel, Fabien Jourdan, Clément Frainay, Ronald A Wevers, Emmanuel Roze, Christel Depienne, Christophe Junot, Fanny Mochel
BACKGROUND: In 2009, untargeted metabolomics led to the delineation of a new clinico-biological entity called cerebellar ataxia with elevated cerebrospinal free sialic acid, or CAFSA. In order to elucidate CAFSA, we applied sequentially targeted and untargeted omic approaches. METHODS AND RESULTS: First, we studied five of the six CAFSA patients initially described. Besides increased CSF free sialic acid concentrations, three patients presented with markedly decreased 5-methyltetrahydrofolate (5-MTHF) CSF concentrations...
May 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29416473/anesthetic-management-of-a-parturient-with-kearns-sayre-syndrome-dual-chamber-and-vvi-implantable-defibrillator-pacemaker-defibrillator-and-preeclampsia-for-cesarean-delivery-a-case-report-and-review-of-the-literature
#9
Abdulmohsen Al Ghamdi
Kearns-Sayre syndrome (KSS), a rare form of mitochondrial myopathy, is a triad of chronic progressive external ophthalmoplegia, bilateral pigmentary retinopathy, and cardiac conduction abnormalities. In this report, we show how a combined spinal epidural anesthesia can be useful for cesarean delivery, as we illustrate in a dual-chamber and VVI implantable defibrillator pacemaker/defibrillator parturient with a KSS and preeclampsia.
January 2018: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/29310369/mitochondrial-mutations-in-12s-rrna-and-16s-rrna-presenting-as-chronic-progressive-external-ophthalmoplegia-cpeo-plus-a-case-report
#10
Zhan-Yun Lv, Xue-Mei Xu, Xiao-Fu Cao, Qian Wang, Da-Fang Sun, Wen-Jing Tian, Yan Yang, Yu-Zhong Wang, Yan-Lei Hao
RATIONALE: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus." PATIENT CONCERNS: We report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29073001/kearns-sayre-syndrome-looking-beyond-a-v-conduction
#11
Mani Ram Krishna
A 15-year-old boy was diagnosed with Kayne Sayre Syndrome. He presented with pigmentary retinopathy, progressive ophthalmoplegia and complete heart block. He received a transvenous dual chamber pacemaker. Two years later he died suddenly while at home. This case highlights the importance of recognizing mechanisms other than heart block as a cause of sudden death in a patient with KSS.
May 2017: Indian Pacing and Electrophysiology Journal
https://www.readbyqxmd.com/read/29053041/scleral-contact-lenses-for-the-management-of-complicated-ptosis
#12
Konstantinos Katsoulos, Gerasimos Livir Rallatos, Ioannis Mavrikakis
PURPOSE: To present the management of three patients suffering from ptosis of various etiologies, with scleral contact lenses. MATERIAL AND METHODS: Three patients (five eyes) with ptosis resulting from levator dehiscence due to long-term rigid gas permeable contact lens wear for keratoconus, phthisis bulbi, and myopathy due to Kearns-Sayre syndrome were identified during a 2-year period. They were fitted with scleral contact lenses in order to provide cosmesis by lifting the upper eyelid with the bulk of the lens, and simultaneously provide vision correction where applicable...
June 2018: Orbit
https://www.readbyqxmd.com/read/28702261/macular-findings-in-spectral-domain-optical-coherence-tomography-and-oct-angiography-in-a-patient-with-kearns-sayre-syndrome
#13
Alvaro Ortiz, Juan Arias, Pedro Cárdenas, John Villamil, Marcela Peralta, Luis C Escaf, Jacobo Ortiz
BACKGROUND: To report the clinical, electrophysiological and the anatomical findings in a patient with Kearns-Sayre syndrome (KSS). CASE PRESENTATION: We present the case of a 55-year-old female with KSS, who developed systemic features and ocular manifestations as ophthalmoplegia and retinal dysfunction, that were corroborated by electrophysiological test and High Definition Spectral Domain Optical Coherence Tomography (HD SD OCT) and OCT-Angiography (OCT-A). CONCLUSION: We report a patient with KSS, accompanied by some alterations of the RPE and photoreceptors observed in the external HD SD OCT and OCT-A...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/28549842/mitochondrial-dysfunction-and-oxidative-stress-in-corneal-disease
#14
REVIEW
Neeru A Vallabh, Vito Romano, Colin E Willoughby
The cornea is the anterior transparent surface and the main refracting structure of the eye. Mitochondrial dysfunction and oxidative stress are implicated in the pathogenesis of inherited (e.g. Kearns Sayre Syndrome) and acquired corneal diseases (e.g. keratoconus and Fuchs endothelial corneal dystrophy). Both antioxidants and reactive oxygen species are found in the healthy cornea. There is increasing evidence of imbalance in the oxidative balance and mitochondrial function in the cornea in disease states...
September 2017: Mitochondrion
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#15
Josef Finsterer, Fulvio Alexandre Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28296806/new-observations-regarding-the-retinopathy-of-genetically-confirmed-kearns-sayre-syndrome
#16
Igor Kozak, Darren T Oystreck, Khaled K Abu-Amero, Sawsan R Nowilaty, Hisham Alkhalidi, Sahar M Elkhamary, Sarar Mohamed, Muddathir H A Hamad, Mustafa A Salih, Emma L Blakely, Robert W Taylor, Thomas M Bosley
PURPOSE: To report novel retinal findings in Kearns-Sayre syndrome and correlate degree of retinopathy with other clinical findings. METHODS: Observational case series of patients from Saudi Arabia with retinal and neuroophthalmologic examinations, medical chart review, and mitochondrial genetic evaluation. RESULTS: The three unrelated patients had progressive external ophthalmoplegia and pigmentary retinopathy bilaterally. Muscle biopsy in two of the cases revealed mitochondrial myopathy...
December 19, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28202819/-melas-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes
#17
REVIEW
Hidetomo Murakami, Kenjiro Ono
Mitochondrial disease is caused by a deficiency in the energy supply to cells due to mitochondrial dysfunction. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial disease that presents with stroke-like episodes such as acute onset of neurological deficits and characteristic imaging findings. Stroke-like episodes in MELAS have the following features: 1) neurological deficits due to localization of lesions in the brain, 2) episodes often accompany epilepsy, 3) lesions do not follow the vascular supply area, 4) lesions are more often seen in the posterior brain than in the anterior brain, 5) lesions spread to an adjacent area in the brain, and 6) neurological symptoms often disappear together with imaging findings, but later relapse...
February 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28027978/in-silico-analysis-for-predicting-pathogenicity-of-five-unclassified-mitochondrial-dna-mutations-associated-with-mitochondrial-cytopathies-phenotypes
#18
Mafalda Bacalhau, João Pratas, Marta Simões, Cândida Mendes, Carolina Ribeiro, Maria J Santos, Luísa Diogo, Maria Carmo Macário, Manuela Grazina
Mitochondrial DNA (mtDNA) mutations have been assigned as a major cause of genetic disease. When a novel sequence variation is found, it is necessary to evaluate its functional impact, usually requiring functional molecular studies. Given the fact that this approach is difficult to put in practice in a routine basis, it is possible to take advantage of the in silico tools available and predict protein/RNA structure changes and therefore pathogenicity. Here, we describe the characterization of five undescribed mtDNA variants, upon detection of 23 unclassified alterations at Laboratory of Biochemical Genetics, from 2004 to 2014...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27741019/corneal-involvement-in-kearns-sayre-syndrome-responsive-to-coenzyme-q
#19
COMMENT
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
December 2016: Cornea
https://www.readbyqxmd.com/read/27718492/efficacy-of-growth-hormone-therapy-in-kearns-sayre-syndrome-the-kigs-experience
#20
REVIEW
Jose Bernardo Quintos, Juanita K Hodax, Bryn A Gonzales-Ellis, Chanika Phornphutkul, Michael P Wajnrajch, Charlotte M Boney
Kearns-Sayre syndrome (KSS) is characterized by external ophthalmoplegia, retinal pigmentation and cardiac conduction defects due to mitochondrial DNA (mtDNA) deletions. Short stature and growth hormone (GH) deficiency have been reported in KSS, but data on GH treatment is limited. We describe the clinical presentation, phenotype evolution, and response to GH in a patient with KSS and report data on eight additional KSS patients from the KIGS database. Our patient with KSS and GH deficiency achieved a final adult height at -0...
November 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
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