نتایج جستجو برای: mitochondrial cytopathies

تعداد نتایج: 132410  

2014
T. P. Matthai U. G. Zachariah S. M. Matthai

Mitochondrial cytopathies (MC) are a rare heterogenous group of disorders with frequent multisystem involvement including uncommon renal manifestations. Acute kidney injury (AKI) as the primary manifestation of MC is extremely rare. Here, we report a case of recurrent episodic AKI in an adult male who was subsequently diagnosed to have mitochondrial disease.

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2012
Patricia B Mory Marcia C dos Santos Claudio E Kater Regina S Moisés

Maternally-inherited diabetes with deafness (MIDD) is a rare form of monogenic diabetes that results, in most cases, from an A-to-G transition at position 3243 of mitochondrial DNA (m.3243A>G) in the mitochondrial-encoded tRNA leucine (UUA/G) gene. As the name suggests, this condition is characterized by maternally-inherited diabetes and bilateral neurosensory hearing impairment. A characterist...

2013
D. Taylor H. R. Haynes A. Graham S. Gerhand K. M. Kurian

Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnosis of MERRF. In addition, we examine her cognitive decline over a 9-year period, demonstrating a ...

Journal: :Revista espanola de cardiologia 2005
Carlos F Barrera-Ramírez Héctor M Barragán-Campos Hermes Ilarraza Pedro Iturralde María C Avila-Casado Jorge Oseguera

The mitochondrial cytopathies or oxidative-phosphorylation diseases are a diverse group of disorders that result from the structural, biochemical, or genetic derangement of mitochondria. Because mitochondrial dysfunction can affect the most highly energy-dependent organs, cardiac involvement is frequent in these diseases. To identify the clinical features of Kearns-Sayre syndrome, an entity ass...

Journal: :Orvosi hetilap 1981
A Berio A Piazzi

The authors describe a rare group of symptoms, resulting in progressive external ophthalmoplegia, retinal pigment epithelial dysfunction and cardiac conduction disturbance. The illness belongs to the group of mitochondrial cytopathies. The case extends over the diagnostic possibilities, with special attention on electromyographic diagnostic, clinical symptoms, pathomechanism of the disease, and...

2012
Kamil S. Sitarz Patrick F. Chinnery Patrick Yu-Wai-Man

Mitochondrial cytopathies are a heterogeneous group of human disorders triggered by disturbed mitochondrial function. This can be due to primary mitochondrial DNA mutations or nuclear defects affecting key components of the mitochondrial machinery. Optic neuropathy is a frequent disease manifestation and the degree of visual failure can be profound, with a severe impact on the patient's quality...

Journal: :Current neurology and neuroscience reports 2001
A L Gropman

Mitochondrial cytopathies are caused by genetic alterations of nuclear- or mitochondrial-encoded genes involved in the synthesis of subunits of the electron transport chain. Mutations of mitochondrial DNA are associated with a wide range of clinical presentations [1-4]. The ubiquitous nature of mitochondria and the role of the mitochondria in cellular metabolism result in the potential for any ...

Journal: :genetics in the 3rd millennium 0
امیر رضا عظیمی amir reza azimi assist prof of tehran university of medical sciences, tehran, iranاستادیار دانشگاه علوم پزشکی تهران

parkinsonism is used to describe a syndrome manifested by any combination of six cardinal features: tremor at rest, rigidity, bradykinesia, loss of postural reflexes, flexed posture and the freezing. decreased dopaminergic neurotransmission in the basal ganglia is the core biochemical pathology in parkinsonism. hereditary parkinsonism includes various heredodegenerative diseases such as hallerv...

Journal: :Mechanisms of Development 2011
Zoltan Villanyi Imre Gaspar Szilard Szikora Laszlo G. Puskas Janos Szabad

Importin-β is encoded by the Ketel gene in Drosophila. Upon running out of the maternal Importin-β dowry larvae without the Ketel gene slow down and before dying possess symptoms characteristic for mitochondrial cytopathies. Death of the larvae is almost certainly the consequence of ceasing import of proteins, including some of the transcription factors, into the nuclei. We report here that the...

Journal: :American journal of physiology. Renal physiology 2014
Ruochen Che Yanggang Yuan Songming Huang Aihua Zhang

Mitochondrial dysfunction has gained recognition as a contributing factor in many diseases. The kidney is a kind of organ with high energy demand, rich in mitochondria. As such, mitochondrial dysfunction in the kidney plays a critical role in the pathogenesis of kidney diseases. Despite the recognized importance mitochondria play in the pathogenesis of the diseases, there is limited understandi...

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