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Pesquisa : C11.180 [Categoria DeCS]
Referências encontradas : 118 [refinar]
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  1 / 118 MEDLINE  
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PMID:28300746
Autor:Chakrabarty L
Endereço:Department of Ophthalmology, Chandulal Chandrakar Memorial Medical College and Hospital, Durg, Chhattisgarh, India.
Título:A unique case of keratoconus with Cogan-Reese syndrome and secondary glaucoma.
Fonte:Indian J Ophthalmol; 65(1):64-66, 2017 Jan.
ISSN:1998-3689
País de publicação:India
Idioma:eng
Resumo:Keratoconus (KC), though one of the most common corneal degeneration, still continues to be a mystique regarding its pathogenesis, diagnosis, associations, and management; with newer discoveries and evolutions being reported. We report, what we believe to be another new association of KC- Cogan Reese syndrome with secondary glaucoma. A 32-year-old male, diagnosed as bilateral KC, presented for examination. Unilateral Cogan-Reese syndrome and associated secondary glaucoma was identified. These associations had been missed by previous ophthalmologists. The patient was managed with a rigid contact lens for KC and topical antiglaucoma agents for glaucoma. He was advised regular reviews and is under observation till date. We describe the first case known to us of a new association with KC. This case not only highlights the ophthalmologist's need to look for multiple entities linked to KC; but may also pave way for future insights regarding pathogenesis and genetics of these associated diseases.
Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE


  2 / 118 MEDLINE  
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PMID:28232169
Autor:Mora P; Calzetti G; Ghirardini S; Rubino P; Gandolfi S; Orsoni J
Endereço:Institute of Ophthalmology, University Hospital of Parma, Italy. Electronic address: paolo.mora@unipr.it.
Título:Cogan's syndrome: State of the art of systemic immunosuppressive treatment in adult and pediatric patients.
Fonte:Autoimmun Rev; 16(4):385-390, 2017 Apr.
ISSN:1873-0183
País de publicação:Netherlands
Idioma:eng
Resumo:OBJECTIVE: The aim of this study was to systematically evaluate the evidences for treatment of Cogan's syndrome (CS), with reference to adult and younger patients described in the literature. SYSTEMATIC REVIEW METHODOLOGY: DATA SOURCES: Studies reviewed were English language original articles ranging from 1990 to 2016 reporting data for subjects with CS (typical and atypical) undergoing any systemic treatment other than steroids alone. Medline/EMBASE, Cochrane Library were searched. The full text of articles meeting selection criteria was reviewed for: study type, diagnosis, number of subjects, treatment type and duration, clinical and/or functional outcomes, possible systemic manifestation or other autoimmune syndromes combined. RESULTS AND CONCLUSIONS: The authors identified 76 relevant reports: 4 prospective studies, 2 retrospective studies, 12 case series and 58 case reports. The studies included a total of 141 new patients: based on the available data, 46 men and 50 women with a mean age of 33years (range 5-69). In the descriptive analysis adult patients (N=87) were separated from pediatric patients (<18years old) (N=17). Concerning treatment strategies, except for a first-line approach to check for a rapid remission, or for a drug sensibility often supporting the diagnosis, a long-term steroidal monotherapy is no longer recommended in CS. As in other autoimmune and rheumatologic diseases, combined treatment with steroid-sparing immunosuppressant agents, also considering "biological" drugs, is nowadays preferred. However, the evidence of clearly effective or preferable treatment options for CS remains lacking, mostly due to the rarity of the disease and to the consequent difficulty in organizing high-quality prospective trials.
Tipo de publicação: JOURNAL ARTICLE; REVIEW
Nome de substância:0 (Immunosuppressive Agents)


  3 / 118 MEDLINE  
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PMID:28002403
Autor:Hoch NC; Hanzlikova H; Rulten SL; Tétreault M; Komulainen E; Ju L; Hornyak P; Zeng Z; Gittens W; Rey SA; Staras K; Mancini GM; McKinnon PJ; Wang ZQ; Wagner JD; Yoon G; Caldecott KW; Care4Rare Canada Consortium
Endereço:Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RH, UK.
Título:XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
Fonte:Nature; 541(7635):87-91, 2017 01 05.
ISSN:1476-4687
País de publicação:England
Idioma:eng
Resumo:XRCC1 is a molecular scaffold protein that assembles multi-protein complexes involved in DNA single-strand break repair. Here we show that biallelic mutations in the human XRCC1 gene are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. Cells from a patient with mutations in XRCC1 exhibited not only reduced rates of single-strand break repair but also elevated levels of protein ADP-ribosylation. This latter phenotype is recapitulated in a related syndrome caused by mutations in the XRCC1 partner protein PNKP and implicates hyperactivation of poly(ADP-ribose) polymerase/s as a cause of cerebellar ataxia. Indeed, remarkably, genetic deletion of Parp1 rescued normal cerebellar ADP-ribose levels and reduced the loss of cerebellar neurons and ataxia in Xrcc1-defective mice, identifying a molecular mechanism by which endogenous single-strand breaks trigger neuropathology. Collectively, these data establish the importance of XRCC1 protein complexes for normal neurological function and identify PARP1 as a therapeutic target in DNA strand break repair-defective disease.
Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
Nome de substância:0 (Chromatin); 0 (DNA-Binding Proteins); 0 (X-ray Repair Cross Complementing Protein 1); 0 (XRCC1 protein, human); 0 (Xrcc1 protein, mouse); 20762-30-5 (Adenosine Diphosphate Ribose); EC 2.4.2.30 (PARP1 protein, human); EC 2.4.2.30 (Parp1 protein, mouse); EC 2.4.2.30 (Poly (ADP-Ribose) Polymerase-1); EC 2.7.1.- (PNKP protein, human); EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)); EC 6.5.1.- (DNA Repair Enzymes)


  4 / 118 MEDLINE  
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PMID:27165045
Autor:Tzoulis C; Sztromwasser P; Johansson S; Gjerde IO; Knappskog P; Bindoff LA
Endereço:Department of Neurology, Haukeland University Hospital, 5021, Bergen, Norway.
Título:PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.
Fonte:Cerebellum; 16(1):272-275, 2017 Feb.
ISSN:1473-4230
País de publicação:United States
Idioma:eng
Resumo:We identified PNKP mutations in a Norwegian woman with AOA. This patient had the typical findings with cognitive dysfunction, peripheral neuropathy, cerebellar dysarthria, horizontal nystagmus, oculomotor apraxia, and severe truncal and appendicular ataxia. In addition, she had hypoalbuminemia and massive lower limb edema which showed some improvement with treatment. Exome sequencing identified two heterozygous mutations, one in exon 14 (c.1196T>C, p.Leu399Pro) and one in exon 16 (c.1393_1396del, p.Glu465*). This is the first non-Portuguese patient with AOA due to PNKP mutations and provides independent verification that PNKP mutations cause AOA.
Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE
Nome de substância:EC 2.7.1.- (PNKP protein, human); EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)); EC 6.5.1.- (DNA Repair Enzymes)


  5 / 118 MEDLINE  
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PMID:27054461
Autor:Benson MD; Ferreira P; MacDonald IM
Endereço:a Department of Ophthalmology and Visual Sciences , University of Alberta , Edmonton , Alberta , Canada.
Título:Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.
Fonte:Ophthalmic Genet; 38(1):88-90, 2017 Jan-Feb.
ISSN:1744-5094
País de publicação:England
Idioma:eng
Resumo:Dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare mitochondrial condition associated with early onset cardiomyopathy and non-progressive ataxia. The cardiac manifestations may be progressive and often severe, resulting in significant morbidity and mortality. While optic nerve atrophy has been described in patients with DCMA, to our knowledge, there have been no reports of additional ocular phenotypes. We present two related Dariusleut Hutterite patients with documented DCMA syndrome and disorders of ocular motility: poor smooth pursuit and difficulty initiating saccadic eye movements and maintaining target fixation. We thus report the first cases of oculomotor apraxia in DCMA syndrome. By identifying these associated findings early in life, we hope to improve both the clinical diagnostic accuracy and timeliness of intervention in cases of DCMA.
Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE


  6 / 118 MEDLINE  
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PMID:27473762
Autor:Wente S; Schröder S; Buckard J; Büttel HM; von Deimling F; Diener W; Häussler M; Hübschle S; Kinder S; Kurlemann G; Kretzschmar C; Lingen M; Maroske W; Mundt D; Sánchez-Albisua I; Seeger J; Toelle SP; Boltshauser E; Brockmann K
Endereço:Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Robert Koch Str. 40, 37075, Göttingen, Germany.
Título:Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.
Fonte:Orphanet J Rare Dis; 11(1):104, 2016 07 29.
ISSN:1750-1172
País de publicação:England
Idioma:eng
Resumo:BACKGROUND: The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man catalog of genetic disorders, others consider COMA merely a clinical symptom. METHODS: We performed a retrospective multicenter data collection study with re-evaluation of clinical and neuroimaging data of 21 previously unreported patients (8 female, 13 male, ages ranging from 2 to 24 years) diagnosed as having COMA. RESULTS: Ocular motor apraxia (OMA) was recognized during the first year of life and confined to horizontal pursuit in all patients. OMA attenuated over the years in most cases, regressed completely in two siblings, and persisted unimproved in one individual. Accompanying clinical features included early onset ataxia in most patients and cognitive impairment with learning disability (n = 6) or intellectual disability (n = 4). Re-evaluation of MRI data sets revealed a hitherto unrecognized molar tooth sign diagnostic for Joubert syndrome in 11 patients, neuroimaging features of Poretti-Boltshauser syndrome in one case and cerebral malformation suspicious of a tubulinopathy in another subject. In the remainder, MRI showed vermian hypo-/dysplasia in 4 and no abnormalities in another 4 patients. There was a strong trend to more severe cognitive impairment in patients with Joubert syndrome compared to those with inconclusive MRI, but otherwise no significant difference in clinical phenotypes between these two groups. CONCLUSIONS: Systematical renewed analysis of neuroimaging data resulted in a diagnostic reappraisal in the majority of patients with early-onset OMA in the cohort reported here. This finding poses a further challenge to the notion of COMA constituting a separate entity and underlines the need for an expert assessment of neuroimaging in children with COMA, especially if they show cognitive impairment.
Tipo de publicação: JOURNAL ARTICLE


  7 / 118 MEDLINE  
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PMID:27330475
Autor:Sevgi DD; Sobrin L; Papaliodis GN
Endereço:Koc University, School of Medicine, Istanbul, Turkey;; Massachusetts Eye and Ear Infirmary, Boston, Massachusetts.
Título:Cogan syndrome with severe medium and large vessel vasculitis.
Fonte:Digit J Ophthalmol; 22(1):32-4, 2016.
ISSN:1542-8958
País de publicação:United States
Idioma:eng
Resumo:Cogan syndrome is a rare disease characterized by coexisting audiovestibular and ocular symptoms. Almost half of patients develop systemic manifestations. We report the case of a 38-year-old woman who presented with severe medium and large vessel vasculitis as a systemic manifestation of Cogan syndrome.
Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE


  8 / 118 MEDLINE  
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PMID:27316287
Autor:Chan SC; Rayat J; Sauvé Y; MacDonald IM
Endereço:University of Alberta, Edmonton, Alta.
Título:Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects.
Fonte:Can J Ophthalmol; 51(3):e85-8, 2016 Jun.
ISSN:1715-3360
País de publicação:England
Idioma:eng
Tipo de publicação: CASE REPORTS; LETTER
Nome de substância:0 (Adaptor Proteins, Signal Transducing); 0 (Membrane Proteins); 0 (NPHP1 protein, human)


  9 / 118 MEDLINE  
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PMID:27283597
Autor:Marjanovic I; Löw U; Seitz B
Endereço:Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes; UKS, Homburg/Saar, Kirrbergerstr. 100, 66421, Homburg, Deutschland. ivana.marjanovic@uniklinikum-saarland.de.
Título:[Unilateral photophobia as initial symptom of severe systemic disease].
Título:Unilaterale Photophobie als Erstsymptom einer schweren Allgemeinerkrankung..
Fonte:Ophthalmologe; 113(12):1078-1081, 2016 Dec.
ISSN:1433-0423
País de publicação:Germany
Idioma:ger
Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE
Nome de substância:0 (Immunosuppressive Agents)


  10 / 118 MEDLINE  
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PMID:26928685
Autor:Hedin E; Lyckberg H; Carlsson PI
Endereço:underläkare, Centralsjukhuset Karlstad - öron-, näsa- och halskliniken Karlstad, Sweden Centralsjukhuset Karlstad - ÖNH-kliniken Karlstad, Sweden.
Título:[Not Available].
Título:Cogans syndrom - när flera av våra sinnen spökar - Ögon och öron påverkas..
Fonte:Lakartidningen; 113, 2016 Feb 23.
ISSN:1652-7518
País de publicação:Sweden
Idioma:swe
Resumo:Cogans syndrome is a rare systemic inflammatory disease characterized by a combination of audiovestibular and ocular symptoms. In some cases, systemic complications occur with vascular inflammation. Aortitis and large vessel vasculitis are the most common forms, but medium-sized and small vessel involvement has also been described. The autoimmune reaction can lead to blindness, deafness and in worst case death, if these patients remain untreated or if treatment is delayed. There is no specific blood test or imaging method available and the diagnosis is clinical. It should be suspected in patients presenting with both inflammatory eye symptoms and audiovestibular dysfunction, when more common autoimmune and infectious diseases have been excluded. The treatment consists of high dose systemic steroids, topical steroids for the affected eye and in some cases addition of immunosuppressive drugs. Treatment is based on the severity of the symptoms and how well the patient responds to initial systemic corticosteroids. Here we present a case of suspected Cogan's syndrome where diagnosis was considered after exclusion of other possible autoimmune and infectious diseases.
Tipo de publicação: CASE REPORTS
Nome de substância:0 (Immunosuppressive Agents); V27W9254FZ (Cortisone)



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