Visual dysfunction in patients with mitochondrial myopathies

1995 ◽  
Vol 89 (3) ◽  
pp. 219-228 ◽  
Author(s):  
Gennaro Ambrosio ◽  
Umberto Giani ◽  
Luciano Loffredo ◽  
Rocco De Marco ◽  
Paola Vastarella
Keyword(s):  
Mitochondrial Myopathies ◽  
Visual Dysfunction

Visual dysfunction in patients with mitochondrial myopathies

1995 ◽  
Vol 89 (3) ◽  
pp. 211-218 ◽  
Author(s):  
Gennaro Ambrosio ◽  
Rocco De Marco ◽  
Luciano Loffredo ◽  
Adriano Magli
Keyword(s):  
Mitochondrial Myopathies ◽  
Visual Dysfunction

scholarly journals Muscle biopsy essential diagnostic advice for pathologists

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Ana Cotta ◽  
Elmano Carvalho ◽  
Antonio Lopes da-Cunha-Júnior ◽  
Jaquelin Valicek ◽  
Monica M. Navarro ◽  
...  
Keyword(s):  
Liquid Nitrogen ◽  
Muscle Biopsy ◽  
Diagnostic Procedures ◽  
Mitochondrial Respiratory Chain ◽  
Muscle Disease ◽  
Diagnostic Workup ◽  
Main Body ◽  
Mitochondrial Myopathies ◽  
Muscle Enzymes ◽  
Molecular Studies

Abstract Background Muscle biopsies are important diagnostic procedures in neuromuscular practice. Recent advances in genetic analysis have profoundly modified Myopathology diagnosis. Main body The main goals of this review are: (1) to describe muscle biopsy techniques for non specialists; (2) to provide practical information for the team involved in the diagnosis of muscle diseases; (3) to report fundamental rules for muscle biopsy site choice and adequacy; (4) to highlight the importance of liquid nitrogen in diagnostic workup. Routine techniques include: (1) histochemical stains and reactions; (2) immunohistochemistry and immunofluorescence; (3) electron microscopy; (4) mitochondrial respiratory chain enzymatic studies; and (5) molecular studies. The diagnosis of muscle disease is a challenge, as it should integrate data from different techniques. Conclusion Formalin-fixed paraffin embedded muscle samples alone almost always lead to inconclusive or unspecific results. Liquid nitrogen frozen muscle sections are imperative for neuromuscular diagnosis. Muscle biopsy interpretation is possible in the context of detailed clinical, neurophysiological, and serum muscle enzymes data. Muscle imaging studies are strongly recommended in the diagnostic workup. Muscle biopsy is useful for the differential diagnosis of immune mediated myopathies, muscular dystrophies, congenital myopathies, and mitochondrial myopathies. Muscle biopsy may confirm the pathogenicity of new gene variants, guide cost-effective molecular studies, and provide phenotypic diagnosis in doubtful cases. For some patients with mitochondrial myopathies, a definite molecular diagnosis may be achieved only if performed in DNA extracted from muscle tissue due to organ specific mutation load.

scholarly journals GPR110 ligands reduce chronic optic tract gliosis and visual deficit following repetitive mild traumatic brain injury in mice

2021 ◽  
Vol 18 (1) ◽  
Author(s):  
Huazhen Chen ◽  
Karl Kevala ◽  
Elma Aflaki ◽  
Juan Marugan ◽  
Hee-Yong Kim
Keyword(s):  
Traumatic Brain Injury ◽  
Brain Injury ◽  
Mild Traumatic Brain Injury ◽  
Visual Evoked Potential ◽  
Evoked Potential ◽  
Optic Tract ◽  
Primary Microglia ◽  
Visual Dysfunction ◽  
The Brain

Abstract Background Repetitive mild traumatic brain injury (mTBI) can result in chronic visual dysfunction. G-protein receptor 110 (GPR110, ADGRF1) is the target receptor of N-docosahexaenoylethanolamine (synaptamide) mediating the anti-neuroinflammatory function of synaptamide. In this study, we evaluated the effect of an endogenous and a synthetic ligand of GPR110, synaptamide and (4Z,7Z,10Z,13Z,16Z,19Z)-N-(2-hydroxy-2-methylpropyl) docosa-4,7,10,13,16,19-hexaenamide (dimethylsynaptamide, A8), on the mTBI-induced long-term optic tract histopathology and visual dysfunction using Closed-Head Impact Model of Engineered Rotational Acceleration (CHIMERA), a clinically relevant model of mTBI. Methods The brain injury in wild-type (WT) and GPR110 knockout (KO) mice was induced by CHIMERA applied daily for 3 days, and GPR110 ligands were intraperitoneally injected immediately following each impact. The expression of GPR110 and proinflammatory mediator tumor necrosis factor (TNF) in the brain was measured by using real-time quantitative reverse transcription polymerase chain reaction (qRT-PCR) in an acute phase. Chronic inflammatory responses in the optic tract and visual dysfunction were assessed by immunostaining for Iba-1 and GFAP and visual evoked potential (VEP), respectively. The effect of GPR110 ligands in vitro was evaluated by the cyclic adenosine monophosphate (cAMP) production in primary microglia isolated from adult WT or KO mouse brains. Results CHIMERA injury acutely upregulated the GPR110 and TNF gene level in mouse brain. Repetitive CHIMERA (rCHIMERA) increased the GFAP and Iba-1 immunostaining of glia cells and silver staining of degenerating axons in the optic tract with significant reduction of N1 amplitude of visual evoked potential at up to 3.5 months after injury. Both GPR110 ligands dose- and GPR110-dependently increased cAMP in cultured primary microglia with A8, a ligand with improved stability, being more effective than synaptamide. Intraperitoneal injection of A8 at 1 mg/kg or synaptamide at 5 mg/kg significantly reduced the acute expression of TNF mRNA in the brain and ameliorated chronic optic tract microgliosis, astrogliosis, and axonal degeneration as well as visual deficit caused by injury in WT but not in GPR110 KO mice. Conclusion Our data demonstrate that ligand-induced activation of the GPR110/cAMP system upregulated after injury ameliorates the long-term optic tract histopathology and visual impairment caused by rCHIMERA. Based on the anti-inflammatory nature of GPR110 activation, we suggest that GPR110 ligands may have therapeutic potential for chronic visual dysfunction associated with mTBI.

Effects of aerobic training on lactate and catecholaminergic exercise responses in mitochondrial myopathies

2000 ◽  
Vol 10 (1) ◽  
pp. 40-45 ◽  
Author(s):  
Gabriele Siciliano ◽  
Maria Laura Manca ◽  
Maria Renna ◽  
Concetta Prontera ◽  
Antonella Mercuri ◽  
...  
Keyword(s):  
Aerobic Training ◽  
Mitochondrial Myopathies

scholarly journals Totally thrombosed giant anterior communicating artery aneurysm

2015 ◽  
Vol 6 (02) ◽  
pp. 245-247
Author(s):  
V. R. Roopesh Kumar ◽  
Venkatesh S. Madhugiri ◽  
Gopalakrishnan M. Sasidharan ◽  
Sudheer Kumar Gundamaneni ◽  
Awdhesh Kumar Yadav ◽  
...  
Keyword(s):  
Urinary Incontinence ◽  
Preoperative Diagnosis ◽  
Relevant Literature ◽  
Artery Aneurysm ◽  
Anterior Communicating Artery ◽  
Gait Ataxia ◽  
Visual Dysfunction ◽  
Anterior Communicating Artery Aneurysm

ABSTRACTGiant anterior communicating artery aneurysmsarerare. Apatient presented with visual dysfunction, gait ataxia and urinary incontinence. MRI showed a giant suprasellar mass.At surgery, the lesion was identified as being an aneurysm arising from the anterior communicating artery.The difficulty in preoperative diagnosis and relevant literature are reviewed.

More on Mitochondrial Myopathies

2016 ◽  
Vol 122 (2) ◽  
pp. 579-580
Author(s):  
Francis Veyckemans ◽  
Luc Heytens ◽  
Jean-Louis Scholtes
Keyword(s):  
Mitochondrial Myopathies

Mitochondrial myopathies: developments in treatment

2010 ◽  
Vol 23 (5) ◽  
pp. 459-465 ◽  
Author(s):  
Adam Hassani ◽  
Rita Horvath ◽  
Patrick F Chinnery
Keyword(s):  
Mitochondrial Myopathies

Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1989 ◽  
Vol 26 (6) ◽  
pp. 699-708 ◽  
Author(s):  
I. J. Holt ◽  
A. E. Harding ◽  
J. M. Cooper ◽  
A. H. V. Schapira ◽  
A. Toscano ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Myopathies ◽  
Biochemical Features
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