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Condition: Mitochondrial Disease
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Total 851 results found since Jan 2013.
Late onset MELAS with m.3243A & gt; G mutation and its association with aneurysm formation
We reported a 53-year-old with late-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) accompanied by aneurysm and large vessel dilations. Most studies have focused on microangiopathy causing stroke-like episodes. We report a case to describe large vessel involvement in clinical considerations, and possible mechanisms of aneurysm formation. We recommended regular angiographic examination for patients with MELAS.
Source: Metabolic Brain Disease - July 10, 2017 Category: Neurology Source Type: research
An Unusual Cause of Hyperglycemia
BY CHRISTINE SHEELER; SEEMA ELAHI, MDA 46-year-old man presented to the ED with multiple complaints, including fatigue and dizziness for one day. His primary care physician had diagnosed him with diabetes the previous day, and had prescribed him an oral hypoglycemic as well as insulin. Neither, however, was started at the time of presentation. The patient had a medical history significant for HIV, with his most recent CD4 count above 500, and bilateral sensorineural hearing loss, which had progressively worsened since its initial onset in his 20s. His physical exam was unremarkable except for decreased hearing bilateral...
Source: The Case Files - April 13, 2017 Category: Emergency Medicine Tags: Blog Posts Source Type: research
A Review of Mathematical Models for Muscular Dystrophy: A Systems Biology Approach
Discussion
With new developments in computational power and data availability, a growing amount of research is using a systems biology approach to understand pathogenesis and progression of disease. Effective and integrated in vitro and in silico models could inform biological phenomena, even without the need of a living subject. For instance, over the last few decades, collagen hydrogel with muscle derived cells (CHMDCs) have promised to revolutionize in vitro experiments and tissue engineering. For CHMDCs to reach the envisioned use, verification by use of mathematical simulations are needed. Recently while examining sha...
Source: PLOS Currents Muscular Dystrophy - February 16, 2018 Category: Neurology Authors: Matthew Houston Source Type: research
MELAS and macroangiopathy: A case report and literature review
We reported a case of MELAS that presented right distal internal carotid arterial (ICA) stenosis and reviewed 12 similar previously reported cases involving intracranial large blood vessels.
Patient concerns:
A 38-year-old man suffered from recurrent stroke-like episodes (SE) such as alternating hemiparesis (right lesion 3 years ago and current left lesion), cortical blindness and seizure for 3 years, and was previously misdiagnosed as cerebral infarction. Magnetic Resonance Angiography (MRA) and Digital Subtraction Angiography (DSA) revealed right distal ICA stenosis and sparse cortex blood vessels, which were related ...
Source: Medicine - December 1, 2018 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Neuroimaging and Neurolaw: Drawing the Future of Aging
Vincenzo Tigano1, Giuseppe Lucio Cascini2, Cristina Sanchez-Castañeda3, Patrice Péran4 and Umberto Sabatini5*
1Department of Juridical, Historical, Economic and Social Sciences, University of Magna Graecia, Catanzaro, Italy
2Department of Experimental and Clinical Medicine, University of Magna Graecia, Catanzaro, Italy
3Department of Clinical Psychology and Psychobiology, University of Barcelona, Barcelona, Spain
4ToNIC, Toulouse NeuroImaging Center, Université de Toulouse, Inserm, UPS, Toulouse, France
5Department of Medical and Surgical Sciences, University of Magna Graecia, Catanzaro, ...
Source: Frontiers in Endocrinology - April 7, 2019 Category: Endocrinology Source Type: research
Cardiovascular Programming During and After Diabetic Pregnancy: Role of Placental Dysfunction and IUGR
This study demonstrated that the incidence of ischemic heart disease and death were three times higher among men with low birth weight compared to men with high birth weight (5). Epidemiological investigations of adults born at the time of the Dutch famine between 1944 and 1945 revealed an association between maternal starvation and a low infant birth weight with a high incidence of hypertension and coronary heart disease in these adults (23). Furthermore, Painter et al. reported the incidence of early onset coronary heart disease among persons conceived during the Dutch famine (24). In that regard, Barker's findin...
Source: Frontiers in Endocrinology - April 8, 2019 Category: Endocrinology Source Type: research
Decompressive Craniectomy for Traumatic Brain Injury: Postoperative Cerebral Hemodynamic Evaluation
Conclusion: There is a wide heterogeneity of postoperative cerebral hemodynamic findings among TBI patients who underwent DC, including hemodynamic heterogeneity between their cerebral hemispheres. DC was proved to be effective for the treatment of cerebral oligoemia. Our data support the concept of heterogeneous nature of the pathophysiology of the TBI and suggest that DC as the sole treatment modality is insufficient.
Introduction
Decompressive craniectomy (DC) may effectively decrease intracranial pressure (ICP) and increase cerebral perfusion pressure (CPP) in traumatic brain injury (TBI) patients with refracto...
Source: Frontiers in Neurology - April 11, 2019 Category: Neurology Source Type: research
Decompressive Craniectomy for Traumatic Brain Injury: Postoperative TCD Cerebral Hemodynamic Evaluation
Conclusion: There is a wide heterogeneity of postoperative cerebral hemodynamic findings among TBI patients who underwent DC, including hemodynamic heterogeneity between their cerebral hemispheres. DC was proved to be effective for the treatment of cerebral oligoemia. Our data support the concept of heterogeneous nature of the pathophysiology of the TBI and suggest that DC as the sole treatment modality is insufficient.
Introduction
Decompressive craniectomy (DC) may effectively decrease intracranial pressure (ICP) and increase cerebral perfusion pressure (CPP) in traumatic brain injury (TBI) patients with refracto...
Source: Frontiers in Neurology - April 11, 2019 Category: Neurology Source Type: research
New Biomarkers for Atherothrombosis in Antiphospholipid Syndrome: Genomics and Epigenetics Approaches
Conclusions
In recent years, there have been many advances in the understanding of the molecular basis for vascular involvement in APS, but many areas need to be further investigated, in particular the association between altered genetic/epigenetic profiles, autoantibodies and clinical manifestations, and the effectiveness of new therapeutic strategies.
It would be interesting to apply next generation sequencing technologies like RNA-Seq along with GWAS to screen both, the gene profile and the whole transcriptome of large cohorts of primary APS patients, in order to reveal the mutations/polymorphisms, post-transcriptiona...
Source: Frontiers in Immunology - April 15, 2019 Category: Allergy & Immunology Source Type: research
Canagliflozin Inhibits Human Endothelial Cell Proliferation and Tube Formation
In conclusion, the present study identified canagliflozin as a potent inhibitor of human EC proliferation. The anti-proliferative action of canagliflozin is observed in ECs isolated from both the venous and arterial circulation, and is partly due to the blockade of cyclin A expression. In addition, this study found that canagliflozin inhibits tube formation in cultured ECs and mouse aortic rings. Notably, these actions are specific for canagliflozin and not seen with other SGLT2 inhibitors. The ability of canagliflozin to exert these pleiotropic effects on EC function may contribute to both the adverse and salutary actions...
Source: Frontiers in Pharmacology - April 15, 2019 Category: Drugs & Pharmacology Source Type: research
Editorial: Telomeres and Epigenetics in Endocrinology
This study was hypothesis-driven; the genetic variants were selected for being previously and substantially genotyped. The big sample size and the rich panel of other biomarkers allowed the authors to conduct much more detailed analyses on this topic.
The third article by Provenzi et al. proposed their perspectives on the role of telomeres in premature birth and discussed the potential implications for early adversity and care in the neonatal intensive care unit (Pavanello et al.). Indeed, the speculation of telomeres in aging begins in the premature aging syndrome. It is thus interesting to examine if telomeres also play...
Source: Frontiers in Endocrinology - April 23, 2019 Category: Endocrinology Source Type: research
Iron Metabolism and Brain Development in Premature Infants
Yafeng Wang1,2,3, Yanan Wu2, Tao Li1,2,3, Xiaoyang Wang2,4 and Changlian Zhu2,3*
1Department of Neonatology (NICU), Children’s Hospital Affiliated Zhengzhou University, Zhengzhou, China
2Henan Key Laboratory of Child Brain Injury, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China
3Department of Clinical Neuroscience, Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden
4Department of Physiology, Sahlgrenska Academy, Institute of Neuroscience and Physiology, University of Got...
Source: Frontiers in Physiology - April 24, 2019 Category: Physiology Source Type: research
Transcriptomic Analysis of Mecp2 Mutant Mice Reveals Differentially Expressed Genes and Altered Mechanisms in Both Blood and Brain
This study was carried out in accordance with the recommendations of National Animal Welfare Authority, Ireland. The protocol was approved by the Animal Ethical Committee Trinity College Dublin and HPRA.Author ContributionsAS performed the experiments and wrote the paper; KH provided assistance in the design and analysis of the RNAseq experiment; DT contributed to sample extraction and establishment of the colony; and DT and MG designed and supervised all the parts of the research and the writing of the manuscript.FundingThe study was funded by the Wellcome Trust Grant WT079408/C/06/Z issued to MG, and by an SFI FN Funded ...
Source: Frontiers in Psychiatry - April 29, 2019 Category: Psychiatry Source Type: research
Application and prospects of butylphthalide for the treatment of neurological diseases.
CONCLUSIONS: The varied pharmacological mechanisms of NBP involve many complex molecular mechanisms; however, there many unknown pharmacological effects await further study.This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0.
PMID: 31107716 [PubMed - as supplied by publisher]
Source: Chinese Medical Journal - May 12, 2019 Category: General Medicine Authors: Chen XQ, Qiu K, Liu H, He Q, Bai JH, Lu W Tags: Chin Med J (Engl) Source Type: research
Current progress of mitochondrial transplantation that promotes neuronal regeneration
ConclusionKey parameters for the success of mitochondrial transplantation depend on the source and quality of isolated mitochondria, delivery protocol, and cellular uptake of supplemented mitochondria. To expedite clinical application of the mitochondrial transplantation, current isolation protocol needs optimization to obtain high percentage of functional mitochondria, isolated mitochondria may be packaged by biomaterials for successful delivery to brain allowing for efficient neuronal uptake.
Source: Translational Neurodegeneration - June 13, 2019 Category: Neurology Source Type: research
