نتایج جستجو برای: mitochondriopathy

تعداد نتایج: 62  

2014
Janina Müller-Deile Mario Schiffer

Proper podocyte function within the glomerulus demands a high and continuous energy supply that is mainly derived from the respiratory chain of the inner mitochondrial membrane. Dysregulations in the metabolic homeostasis of podocytes may result in podocyte damage and glomerular disease. This article highlights the current knowledge about podocyte energy supply by the respiratory chain. We revi...

Journal: :Acta Ophthalmologica Scandinavica 2006

2016
Bianca Hartmann Timothy Wai Hao Hu Thomas MacVicar Luciana Musante Björn Fischer-Zirnsak Werner Stenzel Ralph Gräf Lambert van den Heuvel Hans-Hilger Ropers Thomas F Wienker Christoph Hübner Thomas Langer Angela M Kaindl

Mitochondriopathies often present clinically as multisystemic disorders of primarily high-energy consuming organs. Assembly, turnover, and surveillance of mitochondrial proteins are essential for mitochondrial function and a key task of AAA family members of metalloproteases. We identified a homozygous mutation in the nuclear encoded mitochondrial escape 1-like 1 gene YME1L1, member of the AAA ...

Journal: :Acta Ophthalmologica Scandinavica 2006

Journal: :Epilepsy research 2008
Harald Prüss Martin Holtkamp

A 22-year-old woman with mitochondriopathy and pre-existing epilepsy developed status epilepticus (SE) not responding to benzodiazepines, phenytoin, thiopental, and propofol. SE was terminated within days after supplemental administration of continuous ketamine infusion to midazolam. The case suggests strong anticonvulsant properties of ketamine even after failure of GABAergic anesthetics, like...

Journal: :Heart 1998
J Finsterer C Stöllberger

Abnormal left ventricular trabeculations can be a cardiac manifestation of Becker’s muscular dystrophy. Abnormal left ventricular trabeculations in mitochondrial myopathy have not been reported before. A 68 year old man with a history of chronic congestive heart failure and hypertension, had recurrent raised creatine kinase (CK) concentrations (up to 150 U/l; normal 70 U/l) with normal CKMB iso...

2005
Britta Höcker Constanze Wendt Aimable Nahimana Burkhard Tönshoff Philippe M. Hauser

We describe an outbreak of Pneumocystis jirovecii pneumonia in a pediatric renal transplant unit, likely attributable to patient-to-patient transmission. Single-strand conformation polymorphism molecular typing showed that 3 affected patients had acquired the same 2 strains of Pneumocystis, which suggests interhuman infection. An infant with mitochondriopathy was the probable index patient.

Journal: :Journal of Neuropathology and Experimental Neurology 2006

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