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1982 1
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1997 2
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Page 1
Mitochondrial biogenesis: pharmacological approaches.
Valero T. Valero T. Curr Pharm Des. 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. Curr Pharm Des. 2014. PMID: 24606795
There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS), myoclonic epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis a …
There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns …
Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience.
Quintos JB, Hodax JK, Gonzales-Ellis BA, Phornphutkul C, Wajnrajch MP, Boney CM. Quintos JB, et al. J Pediatr Endocrinol Metab. 2016 Nov 1;29(11):1319-1324. doi: 10.1515/jpem-2016-0172. J Pediatr Endocrinol Metab. 2016. PMID: 27718492 Review.
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 G …
Kearns-Sayre syndrome (KSS) is characterized by external ophthalmoplegia, retinal pigmentation and cardiac conduction d …
Propofol and Kearns-Sayre Syndrome: An idiographic approach.
Maddali MM, Munasinghe TD, Al Aamri I, Al-Abri IA, Al-Adawi S. Maddali MM, et al. Sultan Qaboos Univ Med J. 2023 Dec;23(Spec Iss):63-67. doi: 10.18295/squmj.12.2023.080. Epub 2023 Nov 30. Sultan Qaboos Univ Med J. 2023. PMID: 38161763 Free PMC article.
With the focus on an idiographic approach whereby the observations incorporated the various dimensions of individual functioning 'top-down' to 'bottom-up', this case report describes the successful management of a 14-year-old girl with Kearns-Sayre syndrome a …
With the focus on an idiographic approach whereby the observations incorporated the various dimensions of individual functioning 'top-down' …
Retinoschisis associated with Kearns-Sayre syndrome.
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP. Chertkof J, et al. Ophthalmic Genet. 2020 Oct;41(5):497-500. doi: 10.1080/13816810.2020.1799416. Epub 2020 Aug 13. Ophthalmic Genet. 2020. PMID: 32787478 Free PMC article.
BACKGROUND: Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical retinoschisis and molecularly confirmed KSS. MATERIALS AND METHODS: Physical …
BACKGROUND: Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart …
Genetic causes of hypomagnesemia, a clinical overview.
Viering DHHM, de Baaij JHF, Walsh SB, Kleta R, Bockenhauer D. Viering DHHM, et al. Pediatr Nephrol. 2017 Jul;32(7):1123-1135. doi: 10.1007/s00467-016-3416-3. Epub 2016 May 27. Pediatr Nephrol. 2017. PMID: 27234911 Free PMC article. Review.
Those can be classified into four groups: hypercalciuric hypomagnesemias (encompassing mutations in CLDN16, CLDN19, CASR, CLCNKB), Gitelman-like hypomagnesemias (CLCNKB, SLC12A3, BSND, KCNJ10, FYXD2, HNF1B, PCBD1), mitochondrial hypomagnesemias (SARS2, MT-TI, Kearns-Say …
Those can be classified into four groups: hypercalciuric hypomagnesemias (encompassing mutations in CLDN16, CLDN19, CASR, CLCNKB), Gitelman- …
Mitochondrial dysfunction in migraine.
Yorns WR Jr, Hardison HH. Yorns WR Jr, et al. Semin Pediatr Neurol. 2013 Sep;20(3):188-93. doi: 10.1016/j.spen.2013.09.002. Semin Pediatr Neurol. 2013. PMID: 24331360
However, the investigation of the mtDNA mutations found in classic mt disorders (mt encephalomyopathy with lactic acidosis and stroke-like episodes, myoclonus epilepsy with ragged red fibers, Kearns-Sayre syndrome, and Leber hereditary optic neuropathy) has n …
However, the investigation of the mtDNA mutations found in classic mt disorders (mt encephalomyopathy with lactic acidosis and stroke-like e …
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.
Quijada-Fraile P, O'Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón AM, Muchart J, Málaga I, Pardo R, García-Gonzalez P, Jou C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin MA, Ormazabal A, Pineda M, García-Silva MT, Artuch R. Quijada-Fraile P, et al. Orphanet J Rare Dis. 2014 Dec 24;9:217. doi: 10.1186/s13023-014-0217-2. Orphanet J Rare Dis. 2014. PMID: 25539952 Free PMC article.
BACKGROUND: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that presents with profound cerebral folate deficiency and other features. ...Early treatment with high-dose folinic acid therapy seems to be advisable for the treatment of KSS. …
BACKGROUND: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that presents with profound cerebral f …
Treatment of Kearns-Sayre syndrome with coenzyme Q10.
Ogasahara S, Nishikawa Y, Yorifuji S, Soga F, Nakamura Y, Takahashi M, Hashimoto S, Kono N, Tarui S. Ogasahara S, et al. Neurology. 1986 Jan;36(1):45-53. doi: 10.1212/wnl.36.1.45. Neurology. 1986. PMID: 3941783
We studied the metabolism of coenzyme Q10 (CoQ) and the effects of CoQ therapy in five patients with Kearns-Sayre syndrome (KSS). Although the mitochondrial fraction was increased in muscles from KSS patients, CoQ content was slightly low. ...
We studied the metabolism of coenzyme Q10 (CoQ) and the effects of CoQ therapy in five patients with Kearns-Sayre syndrome …
Kearns-Sayre syndrome and cardiac anesthesia.
Pivalizza EG, Ando KJ, Sweeney MS. Pivalizza EG, et al. J Cardiothorac Vasc Anesth. 1995 Apr;9(2):189-91. doi: 10.1016/S1053-0770(05)80194-6. J Cardiothorac Vasc Anesth. 1995. PMID: 7780078 No abstract available.
Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome.
Berio A, Piazzi A. Berio A, et al. Pediatr Med Chir. 2013 May-Jun;35(3):137-40. doi: 10.4081/pmc.2013.48. Pediatr Med Chir. 2013. PMID: 23947115
Kearns-Sayre syndrome is characterized by onset before 20 years, chronic progressive external opthalmoplegia, pigmentary retinal degeneration, and ataxia (and/or hearth block, and/or high protein content in the cerebrospinal fluid) in the presence of mtDNA re …
Kearns-Sayre syndrome is characterized by onset before 20 years, chronic progressive external opthalmoplegia, pigmentar …
53 results