Database : MEDLINE
Search on : kearns-sayre and syndrome [Words]
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[PMID]: 29502391
[Au] Autor:Berio A; Piazzi A; Traverso CE
[Ad] Address:Department of Neurosciences, Ophthalmology, Rehabilitation, Genetics, and Mother-Child Sciences, University of Genoa, Genoa. agostinoberio@ospedale-gaslini.ge.it.
[Ti] Title:Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy?
[So] Source:Pediatr Med Chir;39(4):169, 2017 Dec 15.
[Is] ISSN:2420-7748
[Cp] Country of publication:Italy
[La] Language:eng
[Ab] Abstract: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. In this view, the CNS spongy alterations in KSS may be not only a dystrophic process (leukodystrophy) but also a dysplastic condition (leukodysplasia). The Authors hypothesize that the symptoms may be related to mtDNA mutations associated to NCC nuclear gene abnormality. SOX 10 gene may be a nuclear candidate gene, as reported in some case of Waardenburg IV syndrome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Process
[do] DOI:10.4081/pmc.2017.169

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[PMID]: 29423831
[Au] Autor:Del Mar Amador M; Colsch B; Lamari F; Jardel C; Ichou F; Rastetter A; Sedel F; Jourdan F; Frainay C; Wevers RA; Roze E; Depienne C; Junot C; Mochel F
[Ad] Address:Assistance Publique-Hôpitaux de Paris, Département de Neurologie, La Pitié-Salpêtrière University Hospital, Paris, France.
[Ti] Title:Targeted versus untargeted omics - the CAFSA story.
[So] Source:J Inherit Metab Dis;, 2018 Feb 08.
[Is] ISSN:1573-2665
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract: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. Exome sequencing identified a homozygous POLG mutation in two affected sisters, but failed to identify a causative gene in the three sporadic patients with high sialic acid but low 5-MTHF. Using targeted mass spectrometry, we confirmed that free sialic acid was increased in the CSF of a third known POLG-mutated patient. We then pursued pathophysiological analyses of CAFSA using mass spectrometry-based metabolomics on CSF from two sporadic CAFSA patients as well as 95 patients with an unexplained encephalopathy and 39 controls. This led to the identification of a common metabotype between the two initial CAFSA patients and three additional patients, including one patient with Kearns-Sayre syndrome. Metabolites of the CSF metabotype were positioned in a reconstruction of the human metabolic network, which highlighted the proximity of the metabotype with acetyl-CoA and carnitine, two key metabolites regulating mitochondrial energy homeostasis. CONCLUSION: Our genetic and metabolomics analyses suggest that CAFSA is a heterogeneous entity related to mitochondrial DNA alterations either through POLG mutations or a mechanism similar to what is observed in Kearns-Sayre syndrome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[St] Status:Publisher
[do] DOI:10.1007/s10545-017-0134-3

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[PMID]: 29124809
[Au] Autor:Finsterer J; Zarrouk-Mahjoub S
[Ad] Address:Krankenanstalt Rudolfstiftung, Vienna, Austria.
[Ti] Title:Kearns-Sayre syndrome in the absence of a mtDNA deletion?
[So] Source:Andrologia;49(10), 2017 Dec.
[Is] ISSN:1439-0272
[Cp] Country of publication:Germany
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1711
[Cu] Class update date: 171110
[Lr] Last revision date:171110
[St] Status:In-Data-Review
[do] DOI:10.1111/and.12810

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[PMID]: 29053041
[Au] Autor:Katsoulos K; Rallatos GL; Mavrikakis I
[Ad] Address:a Department of Oculoplastics and Orbit , Athens Eye Hospital , Glyfada , Greece.
[Ti] Title:Scleral contact lenses for the management of complicated ptosis.
[So] Source:Orbit;:1-7, 2017 Oct 20.
[Is] ISSN:1744-5108
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. RESULTS: The scleral contact lenses provided comfortable wear, significantly improved cosmesis as both palpebral aperture and marginal reflex distance were increased, and visual acuity was also subjectively and objectively improved. Two of the patients opted for the scleral contact lenses, whereas the parents of the third patient, a 10-year-old girl with Kearns-Sayre syndrome, chose to undergo ptosis surgery due to handling issues of the scleral contact lenses. CONCLUSION: Scleral contact lenses can be a useful addition to the treatment option for patients with complicated ptosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171020
[Lr] Last revision date:171020
[St] Status:Publisher
[do] DOI:10.1080/01676830.2017.1383475

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[PMID]: 28712837
[Au] Autor:Finsterer J; Maeztu C
[Ad] Address:Krankenanstalt Rudolfstiftung, Viena, Austria. Electronic address: fipaps@yahoo.de.
[Ti] Title:El ácido folínico no es eficaz en el tratamiento del síndrome de Kearns-Sayre. Folinic acid is ineffective for treating kearns-sayre syndrome.
[So] Source:Neurologia;, 2017 Jul 13.
[Is] ISSN:1578-1968
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Pt] Publication type:LETTER
[Em] Entry month:1707
[Cu] Class update date: 170717
[Lr] Last revision date:170717
[St] Status:Publisher

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[PMID]: 28702261
[Au] Autor:Ortiz A; Arias J; Cárdenas P; Villamil J; Peralta M; Escaf LC; Ortiz J
[Ad] Address:Fundación Oftalmológica de Santander Carlos Ardila Lulle (FOSCAL), Floridablanca, Colombia.
[Ti] Title:Macular findings in Spectral Domain Optical Coherence Tomography and OCT Angiography in a patient with Kearns-Sayre syndrome.
[So] Source:Int J Retina Vitreous;3:24, 2017.
[Is] ISSN:2056-9920
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. In the best of our knowledge, this is the first report in the literature of HD SD OCT findings in a patient with KSS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170716
[Lr] Last revision date:170716
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1186/s40942-017-0077-8

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[PMID]: 28515908
[Au] Autor:Finsterer J; Scorza FA
[Ad] Address:Neurological Department, Municipal Hospital Rudolfstiftung, A-1030 Vienna, Austria.
[Ti] Title:Renal manifestations of primary mitochondrial disorders.
[So] Source:Biomed Rep;6(5):487-494, 2017 05.
[Is] ISSN:2049-9434
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. Among the syndromic MIDs, renal involvement has been most frequently reported in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome, Kearns-Sayre syndrome, Leigh syndrome and mitochondrial depletion syndromes. Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis syndrome. The present study proposes that the frequency of renal involvement in MIDs is probably underestimated. Diagnosis of renal involvement follows general guidelines and treatment is symptomatic. Thus, renal manifestations of primary MIDs require recognition and appropriate management, as they determine the outcome of MID patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 170816
[Lr] Last revision date:170816
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.3892/br.2017.892

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[PMID]: 28318733
[Au] Autor:Pardo Ruiz E; Maturana Martínez D; Vázquez López M; Ruiz Martín Y
[Ad] Address:Servicio de Pediatría, Hospital General Universitario Gregorio Marañón, Madrid, España. Electronic address: esther.pardo14@gmail.com.
[Ti] Title:Síndrome de Kearns-Sayre: ausencia de respuesta clínica al tratamiento con ácido folínico oral. Kearns-Sayre syndrome: Absence of clinical response to treatment with oral folinic acid.
[So] Source:Neurologia;, 2017 Mar 16.
[Is] ISSN:1578-1968
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Pt] Publication type:LETTER
[Em] Entry month:1703
[Cu] Class update date: 170320
[Lr] Last revision date:170320
[St] Status:Publisher

  9 / 840 MEDLINE  
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[PMID]: 28202819
[Au] Autor:Murakami H; Ono K
[Ad] Address:Department of Neurology, Showa University School of Medicine.
[Ti] Title:[MELAS: Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes].
[So] Source:Brain Nerve;69(2):111-117, 2017 Feb.
[Is] ISSN:1881-6096
[Cp] Country of publication:Japan
[La] Language:jpn
[Ab] Abstract: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. About 80% of patients with MELAS have an A-to-G transition mutation at the nucleotide pair 3243 in the dihydrouridine loop of mitochondrial tRNALeu(UUR), which causes the absence of posttranscriptional taurine modification at the wobble nucleotide of mitochondrial tRNALeu(UUR) and disrupts protein synthesis. However, the precise pathophysiology of stroke-like episodes is under investigation, with possible hypotheses for these episodes including mitochondrial angiopathy, mitochondrial cytopathy, and neuron-astrocyte uncoupling. With regard to treatment, L-arginine and taurine have recently been suggested for relief of clinical symptoms.
[Mh] MeSH terms primary: Acidosis, Lactic/diagnosis
Brain/pathology
Kearns-Sayre Syndrome/diagnosis
MELAS Syndrome/diagnosis
Mitochondrial Myopathies/diagnosis
Stroke/diagnosis
[Mh] MeSH terms secundary: Acidosis, Lactic/pathology
Acidosis, Lactic/therapy
Diagnosis, Differential
Humans
Kearns-Sayre Syndrome/pathology
Kearns-Sayre Syndrome/therapy
MELAS Syndrome/pathology
MELAS Syndrome/therapy
Mitochondrial Myopathies/pathology
Mitochondrial Myopathies/therapy
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1706
[Cu] Class update date: 170622
[Lr] Last revision date:170622
[Js] Journal subset:IM
[Da] Date of entry for processing:170217
[St] Status:MEDLINE
[do] DOI:10.11477/mf.1416200650

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[PMID]: 28027978
[Au] Autor:Bacalhau M; Pratas J; Simões M; Mendes C; Ribeiro C; Santos MJ; Diogo L; Macário MC; Grazina M
[Ad] Address:Faculty of Medicine, University of Coimbra, PA 3000-354, Portugal; Center for Neuroscience and Cell Biology, University of Coimbra - Laboratory of Biochemical Genetics, Portugal. Electronic address: mafaldarvbacalhau@gmail.com.
[Ti] Title:In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.
[So] Source:Eur J Med Genet;60(3):172-177, 2017 Mar.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract: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. Those five sequence variations are located in protein-coding genes, in five patients with a diverse range of mitochondrial respiratory chain disease phenotypes including encephalopathy, optic neuropathy, developmental delay, deafness and epilepsy. According to the prediction established by in silico analysis using tools to predict structure and function changes (ClustalW2 , PolyPhen-2 , SIFT , MutationAssessor , PredictProtein , Provean , I-TASSER , Haplogrep ), from the 23 variants analyzed, the five described are potentially pathogenic. This approach is inexpensive and compatible with a rapid first line response to clinical demanding, contributing to a more rationale genetic diagnosis concerning novel mutations and to clarify the mtDNA involvement in these pathologies.
[Mh] MeSH terms primary: Computer Simulation
DNA, Mitochondrial/genetics
Electron Transport/genetics
Kearns-Sayre Syndrome/genetics
Mitochondrial Myopathies/genetics
Mutation/genetics
[Mh] MeSH terms secundary: Adolescent
Adult
Base Sequence
Child
Female
Genetic Variation
Humans
Male
Middle Aged
Mitochondria/genetics
Sequence Analysis, DNA
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (DNA, Mitochondrial)
[Em] Entry month:1702
[Cu] Class update date: 170616
[Lr] Last revision date:170616
[Js] Journal subset:IM
[Da] Date of entry for processing:161229
[St] Status:MEDLINE


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