scholarly journals Anesthesia outside the Operating Room in a Patient with Mitochondrial Disease

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Alejandra Fadrique-Fuentes ◽  
Beatriz Martínez-Rafael ◽  
Rodrigo Poves-Álvarez ◽  
Estefanía Gómez-Pesquera
Keyword(s):  
Mitochondrial Dysfunction ◽  
Operating Room ◽  
Mitochondrial Disease ◽  
Genetic Disorders ◽  
Metabolic Balance ◽  
Anesthetic Agents ◽  
Wide Range

Mitochondrial dysfunction comprehends a wide range of genetic disorders. These patients’ precarious metabolic balance makes its management difficult. Furthermore, the same systems affected by mitochondrial disease can be altered by many of the frequently used anesthetic agents. Each patient has to be evaluated individually according to their comorbidities and anesthetic requirements.

scholarly journals Cardiovascular Outcomes in Patients With Mitochondrial Disease in the United States: A Propensity Score Analysis

2021 ◽  
Vol 48 (3) ◽  
Author(s):  
Tran Nguyen ◽  
Talal Alzahrani ◽  
Joseph Krepp ◽  
Gurusher Panjrath
Keyword(s):  
Heart Failure ◽  
Mitochondrial Disease ◽  
Cardiovascular Events ◽  
Propensity Score Analysis ◽  
Genetic Disorders ◽  
Systolic Heart Failure ◽  
The United States ◽  
Major Adverse Cardiovascular Events ◽  
Hospital Death ◽  
Wide Range

Mitochondrial disease comprises a wide range of genetic disorders caused by mitochondrial dysfunction. Its rarity, however, has limited the ability to assess its effects on clinical outcomes. To evaluate this relationship, we collected data from the 2016 National Inpatient Sample, which includes data from >7 million hospital stays. We identified 705 patients (mean age, 22 ± 20.7 yr; 54.2% female; 67.4% white) whose records included the ICD-10-CM code E88.4. We also identified a propensity-matched cohort of 705 patients without mitochondrial disease to examine the effect of mitochondrial disease on major adverse cardiovascular events, including all-cause in-hospital death, cardiac arrest, and acute congestive heart failure. Patients with mitochondrial disease were at significantly greater risk of major adverse cardiovascular events (odds ratio [OR]=2.42; 95% CI, 1.29–4.57; P=0.005), systolic heart failure (OR=2.37; 95% CI, 1.08–5.22; P=0.027), and all-cause in-hospital death (OR=14.22; 95% CI, 1.87–108.45; P<0.001). These findings suggest that mitochondrial disease significantly increases the risk of inpatient major adverse cardiovascular events.

scholarly journals Generation of somatic mitochondrial DNA-replaced cells for mitochondrial dysfunction treatment

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Hideki Maeda ◽  
Daisuke Kami ◽  
Ryotaro Maeda ◽  
Akira Shikuma ◽  
Satoshi Gojo
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Dysfunction ◽  
Mitochondrial Disease ◽  
Respiratory Function ◽  
Disease Patient ◽  
Mitochondrial Diseases ◽  
Wild Type ◽  
Mutant Genotype ◽  
Isolated Mitochondria ◽  
Wide Range

AbstractMitochondrial diseases currently have no cure regardless of whether the cause is a nuclear or mitochondrial genome mutation. Mitochondrial dysfunction notably affects a wide range of disorders in aged individuals, including neurodegenerative diseases, cancers, and even senescence. Here, we present a procedure to generate mitochondrial DNA-replaced somatic cells with a combination of a temporal reduction in endogenous mitochondrial DNA and coincubation with exogeneous isolated mitochondria. Heteroplasmy in mitochondrial disease patient-derived fibroblasts in which the mutant genotype was dominant over the wild-type genotype was reversed. Mitochondrial disease patient-derived fibroblasts regained respiratory function and showed lifespan extension. Mitochondrial membranous components were utilized as a vehicle to deliver the genetic materials into endogenous mitochondria-like horizontal genetic transfer in prokaryotes. Mitochondrial DNA-replaced cells could be a resource for transplantation to treat maternal inherited mitochondrial diseases.

scholarly journals Generation of Somatic Mitochondrial DNA-Replaced Cells for Mitochondrial Dysfunction Treatment

2020 ◽  
Author(s):  
Hideki Maeda ◽  
Daisuke Kami ◽  
Ryotaro Maeda ◽  
Akira Shikuma ◽  
Satoshi Gojo
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Dysfunction ◽  
Mitochondrial Disease ◽  
Pluripotent Stem Cells ◽  
Disease Patient ◽  
Mitochondrial Diseases ◽  
Wild Type ◽  
Mutant Genotype ◽  
Wide Range

AbstractMitochondrial diseases currently have no cure regardless of whether the cause is a nuclear or mitochondrial genome mutation. Mitochondrial dysfunction notably affects a wide range of disorders in aged individuals, including neurodegenerative diseases, cancers, and even senescence. Here, we present a procedure to generate mitochondrial DNA-replaced somatic cells with a combination of a temporal reduction in endogenous mitochondrial DNA and coincubation with exogeneous isolated mitochondria. Heteroplasmy in mitochondrial disease patient-derived fibroblasts in which the mutant genotype was dominant over the wild-type genotype was reversed over the long term, even inducing the production of pluripotent stem cells from the mitochondrial DNA-replaced cells to maintain the genotype without a reversion to the original. Both mitochondrial disease patient-derived and aged fibroblasts could regain respiratory function and showed lifespan extension. Mitochondrial membranous components were utilized as a vehicle to deliver the genetic materials into endogenous mitochondria-like horizontal genetic transfer in prokaryotes. The mitochondrial DNA-replaced cells could be a resource for transplantation to treat not only mitochondrial diseases, but also senescence-related diseases.

scholarly journals Early Infantile Epileptic Encephalopathy in anSTXBP1Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Dong Li ◽  
Elizabeth Bhoj ◽  
Elizabeth McCormick ◽  
Fengxiang Wang ◽  
James Snyder ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Mitochondrial Dysfunction ◽  
Respiratory Chain ◽  
Mitochondrial Disease ◽  
De Novo ◽  
Intractable Epilepsy ◽  
Epileptic Encephalopathy ◽  
Skeletal Muscle Biopsy ◽  
Wide Range ◽  
Lactic Acidemia

A wide range of clinical findings have been associated with mutations in Syntaxin Binding Protein 1 (STXBP1), including multiple forms of epilepsy, nonsyndromic intellectual disability, and movement disorders.STXBP1mutations have recently been associated with mitochondrial pathology, although it remains unclear if this phenotype is a part of the core feature for this gene disorder. We report a 7-year-old boy who presented for diagnostic evaluation of intractable epilepsy, episodic ataxia, resting tremor, and speech regression following a period of apparently normal early development. Mild lactic acidemia was detected on one occasion at the time of an intercurrent illness. Due to the concern for mitochondrial disease, ophthalmologic evaluation was performed that revealed bilateral midperiphery pigmentary mottling. Optical coherence tomography (OCT) testing demonstrated a bilaterally thickened ganglion cell layer in the perifovea. Skeletal muscle biopsy analysis showed no mitochondrial abnormalities or respiratory chain dysfunction. Exome sequencing identified ade novoc.1651C>T (p.R551C) mutation inSTXBP1.Although mitochondrial dysfunction has been reported in some individuals, our proband had only mild lactic acidemia and no skeletal muscle tissue evidence of mitochondrial disease pathology. Thus, mitochondrial dysfunction is not an obligate feature ofSTXBP1disease.

scholarly journals General anesthesia with remimazolam in a patient with mitochondrial encephalomyopathy: a case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Yuji Suzuki ◽  
Matsuyuki Doi ◽  
Yoshiki Nakajima
Keyword(s):  
Lactic Acidosis ◽  
General Anesthesia ◽  
Mitochondrial Disease ◽  
Muscle Relaxation ◽  
Anesthetic Management ◽  
Perioperative Period ◽  
Mitochondrial Encephalomyopathy ◽  
Anesthesia Induction ◽  
General Anesthetic ◽  
Anesthetic Agents

Abstract Background Systemic anesthetic management of patients with mitochondrial disease requires careful preoperative preparation to administer adequate anesthesia and address potential disease-related complications. The appropriate general anesthetic agents to use in these patients remain controversial. Case presentation A 54-year-old woman (height, 145 cm; weight, 43 kg) diagnosed with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes underwent elective cochlear implantation. Infusions of intravenous remimazolam and remifentanil guided by patient state index monitoring were used for anesthesia induction and maintenance. Neither lactic acidosis nor prolonged muscle relaxation occurred in the perioperative period. At the end of surgery, flumazenil was administered to antagonize sedation, which rapidly resulted in consciousness. Conclusions Remimazolam administration and reversal with flumazenil were successfully used for general anesthesia in a patient with mitochondrial disease.

scholarly journals Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson’s disease

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Chun Chen ◽  
David McDonald ◽  
Alasdair Blain ◽  
Ashwin Sachdeva ◽  
Laura Bone ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Oxidative Phosphorylation ◽  
Mitochondrial Dysfunction ◽  
Mitochondrial Disease ◽  
Dopaminergic Neurons ◽  
Neuronal Response ◽  
Proteomic Profiling ◽  
Mass Cytometry ◽  
And Control

AbstractHere we report the application of a mass spectrometry-based technology, imaging mass cytometry, to perform in-depth proteomic profiling of mitochondrial complexes in single neurons, using metal-conjugated antibodies to label post-mortem human midbrain sections. Mitochondrial dysfunction, particularly deficiency in complex I has previously been associated with the degeneration of dopaminergic neurons in Parkinson’s disease. To further our understanding of the nature of this dysfunction, and to identify Parkinson’s disease specific changes, we validated a panel of antibodies targeting subunits of all five mitochondrial oxidative phosphorylation complexes in dopaminergic neurons from Parkinson’s disease, mitochondrial disease, and control cases. Detailed analysis of the expression profile of these proteins, highlighted heterogeneity between individuals. There is a widespread decrease in expression of all complexes in Parkinson’s neurons, although more severe in mitochondrial disease neurons, however, the combination of affected complexes varies between the two groups. We also provide evidence of a potential neuronal response to mitochondrial dysfunction through a compensatory increase in mitochondrial mass. This study highlights the use of imaging mass cytometry in the assessment and analysis of expression of oxidative phosphorylation proteins, revealing the complexity of deficiencies of these proteins within individual neurons which may contribute to and drive neurodegeneration in Parkinson’s disease.

scholarly journals Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

Children ◽  
2021 ◽  
Vol 8 (7) ◽  
pp. 532
Author(s):  
Dorota Wesół-Kucharska ◽  
Dariusz Rokicki ◽  
Aleksandra Jezela-Stanek
Keyword(s):  
Oxidative Phosphorylation ◽  
Mitochondrial Dysfunction ◽  
Mitochondrial Disease ◽  
Clinical Picture ◽  
Poor Prognosis ◽  
Treatment Options ◽  
Mitochondrial Diseases ◽  
Energy Deficit ◽  
Atp Production ◽  
Current State

Mitochondrial diseases are a heterogeneous group of diseases resulting from energy deficit and reduced adenosine triphosphate (ATP) production due to impaired oxidative phosphorylation. The manifestation of mitochondrial disease is usually multi-organ. Epilepsy is one of the most common manifestations of diseases resulting from mitochondrial dysfunction, especially in children. The onset of epilepsy is associated with poor prognosis, while its treatment is very challenging, which further adversely affects the course of these disorders. Fortunately, our knowledge of mitochondrial diseases is still growing, which gives hope for patients to improve their condition in the future. The paper presents the pathophysiology, clinical picture and treatment options for epilepsy in patients with mitochondrial disease.

Congenital disorders

2018 ◽  
pp. 160-163
Author(s):  
Sowmiya Moorthie
Keyword(s):  
Developmental Disorders ◽  
Genetic Disorders ◽  
Holistic Approach ◽  
Congenital Disorders ◽  
Mortality And Morbidity ◽  
Specialist Services ◽  
Wide Range ◽  
Effective Delivery ◽  
The Life Course ◽  
Preventative Services

Congenital disorders encompass a wide range of conditions (e.g. genetic disorders, foetal disease, and developmental disorders) that occur before birth and are an important contributor to mortality and morbidity worldwide. Congenital disorders can be identified at different life stages and effective health services take a holistic approach to their care and prevention. This involves both population health and specialist services across the life course. Systematic collection of data on the types, prevalence, severity, and outcomes of congenital disorders, along with analysis and interpretation of data helps to inform appropriate planning of care and preventative services and activities. Important concepts in relation to congenital disorders, prevention activities, and key challenges to their effective delivery are described in this chapter.

scholarly journals Taxonomy of Surgical Delay Related to Sterile Processing and Domino Effect

2019 ◽  
Vol 8 (1) ◽  
pp. 291-295
Author(s):  
Kimberly A. LaForge ◽  
Helen J. A. Fuller ◽  
Timothy Arnold ◽  
Kristin Chrouser ◽  
William Gunnar
Keyword(s):  
Operating Room ◽  
Medical Equipment ◽  
Domino Effect ◽  
Staff Time ◽  
Surgical Delay ◽  
Wide Range ◽  
Competing Demands ◽  
Instructions For Use ◽  
Sterile Processing ◽  
Work Done

Successful surgery does not just depend on the skills and knowledge of those in the operating room but also on the staff that insure the needed instrumentation is available and sterile. The process that continuously provides reusable medical equipment (RME) to the Operating Room (OR) requires highly specialized expertise over a wide range of instrumentation. The reprocessing team must be familiar with instructions for use (IFU), and how to apply them to process every piece of RME from surgeries, endoscopies, and clinic procedures. Coupled with the limitations of staff, time, and resources and with competing demands to produce sterile instruments and environments that work in almost total isolation from each other, there are several gaps in the process that must be identified and bridged. While the workflow for moving between the Sterile Processing Department (SPD) and the OR is sometimes thought as a fairly simple circular flowchart, the realities of work done versus work imagined are vastly different. In addition, these challenges vary considerably across different departments, even in a single healthcare system, and as such there are no simple solutions. Understanding the demands on the SPD, the needs in the OR for sterile RME, and the patient safety concerns that drive this cycle are critical if we are to improve the process.

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