Laryngeal involvement in mitochondrial myopathy

1994 ◽  
Vol 108 (8) ◽  
pp. 685-687 ◽  
Author(s):  
C. Hartley ◽  
F. Ascott
Keyword(s):  
Mitochondrial Myopathy ◽  
Neuromuscular Disorders ◽  
Cellular Level ◽  
Clinical Findings ◽  
Therapeutic Options ◽  
Diverse Group ◽  
Mitochondrial Myopathies ◽  
Bulbar Symptoms ◽  
Previous Account ◽  
Laryngeal Involvement

AbstractA patient with a slowly progressive mitochondrial myopathy is presented. Mitochondrial myopathies are a diverse group of disorders both clinically and at the cellular level. In common with other neuromuscular disorders, bulbar symptoms may occur. However, though pharyngeal symptoms have been documented in all forms of the disorder, no previous account has described problems at the laryngeal level. We discuss the clinical findings and comment on the therapeutic options.

scholarly journals A rare case of dysphonia in mitochondrial myopathy

2017 ◽  
Vol 3 (3) ◽  
pp. 745
Author(s):  
Abha Kumari ◽  
Sunil Goyal ◽  
Virender Malik ◽  
Takhellambam Biram Singh ◽  
Vijay Krishnan Paramasivan ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Mitochondrial Myopathy ◽  
Rare Case ◽  
Mitochondrial Respiratory Chain ◽  
Muscle Disease ◽  
Diverse Group ◽  
Vocal Cords ◽  
Primary Dysfunction ◽  
Laryngeal Examination ◽  
Laryngeal Involvement

<p class="abstract"><span lang="EN-US">The mitochondrial myopathy consists of diverse group of disorders which is characterized by primary dysfunction of mitochondrial respiratory chain leading to muscle disease. The involvement of larynx is very rare and only few cases have been reported in the literature. This study presents the fourth published case of dysphonia in the setting of mitochondrial myopathy. A patient with dysphonia with laryngeal involvement in mitochondrial myopathy is presented with literature review. A 43 year old man presented with progressive dysphonia and muscle weakness. Laryngeal examination showed bilateral adductor weakness of vocal cords and biopsy revealed findings typical of mitochondrial myopathy (MM). He underwent conservative trial for dysphonia with no relief and subsequently medalization thyroplasty showed some improvement in dysphonia. </span>Mitochondrial myopathy should be considered in the differential diagnosis of dysphonia for early diagnosis and management.</p><p class="p"> </p>

Handbook of Electrogastrography

2003 ◽  
Keyword(s):  
Electrical Activity ◽  
Neuromuscular Disorders ◽  
Relevant Information ◽  
Cellular Level ◽  
Clinical Practices ◽  
Physiological Basis ◽  
Gastric Dysrhythmias ◽  
History Of ◽  
Major Section ◽  
Cells Of Cajal

The Handbook of Electrogastrography is the first textbook dedicated to reviewing the physiology of gastric myelectrical activity and the measurement of this electrical activity with electrodes placed on the abdominal surface - the electrogastrogram. The Handbook is divided into three major sections. The first section (Chapters 1-3) focuses on the history of electrogastrography, electrical activity of the interstitial cells of Cajal, the cells from which gastric electrical rhythmicity emanates. The cellular level of gastric electrical rhythmicity provides an understanding of the physiological basis of the electrogastrogram signal. The second major section of the book (Chapters 4-6) incorporates the practical aspects of recording a high quality electrogastrogram and approaches to the analysis of the electrogastrogram using visual inspection and computer techniques. This section focuses on the authors' combined experience of examining EGG recordings for more than sixty years. From this rich research and clinical experience, the clinical application of EGG recordings in an approach to patients with unexplained nausea and vomiting is described. Neuromuscular disorders of the stomach involving gastric dysrhythmias are reviewed. The third major section of the book (Chapters 7-9) comprises many examples of gastric dysrythmias ranging from bradygastrias to tachygastrias and mixed dysrythmias. Current understanding of the mechanisms of gastric dysrhythmias is reviewed. Artifacts in the EGG signal, which may be confused with gastric dysrhythmias, are also presented. The Handbook of Electrogastrography will be a valuable reference for physicians interested in recording gastric electrical activity in clinical practices or in clinical research. Gastroenterologists, internists, psychologists and others with an interest in gastric myoelectrical events will also find extensive and relevant information for recording and interpreting EGGs in the Handbook.

scholarly journals Genital psoriasis: Update on clinical practices and therapeutic options

2021 ◽  
Vol 68 (1) ◽  
pp. 48-51
Author(s):  
Emanuela-Domnica Boieriu ◽  
◽  
Iulia-Elena Negulet ◽  
Ioana-Simona Dinu ◽  
Alexandra-Irina Butacu ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Life Quality ◽  
Clinical Findings ◽  
Therapeutic Options ◽  
Topical Steroids ◽  
Clinical Practices ◽  
Clinical Variants ◽  
Genital Psoriasis ◽  
Chronic Skin

Psoriasis is a chronic skin disease with an important inflammatory compound which associates a worldwide prevalence of 0.5% to 8.5%. The involvement of the genital region can be associated with both plaque psoriasis and inverse psoriasis and survey-based studies indicate that up to 45.5% of patients present lesions of genital psoriasis. Genital psoriasis represents a frequent encounter of psoriasis which is often overlooked and which associates a significant impact on their quality of life, measured by Dermatology Life Quality Index (DLQI) scores which are twice as high as those of psoriatic patients without genital involvement. Recognising the specific clinical findings represents an important step in establishing the diagnosis and case management. Classical therapeutic options such as topical steroids or modern treatments such as ixekizumab represent important tools in fighting this affliction and regaining the patient’s quality of life. This review aims to emphasize the up-to-date clinical variants of genital psoriasis, the consequences on the quality of life of patients and to present the newest therapeutic options.

scholarly journals Mitochondrial Myopathy of Cerebro-Hepato-Renal (Zellweger) Syndrome

1983 ◽  
Vol 10 (3) ◽  
pp. 170-177 ◽  
Author(s):  
Harvey B. Sarnat ◽  
Geoffrey Machin ◽  
Husam Z. Darwish ◽  
Steven Z. Rubin
Keyword(s):  
Electron Microscopy ◽  
Energy Metabolism ◽  
Mitochondrial Myopathy ◽  
Zellweger Syndrome ◽  
Muscle Fibers ◽  
Clinical Findings ◽  
Ultrastructural Studies ◽  
Mitochondrial Alterations ◽  
Negative Findings ◽  
Paracrystalline Inclusions

SUMMARY:The muscles of four infants with cerebro-hepato-renal (Zellweger) syndrome were studied during life and/or at necropsy. A mitochondrial myopathy was demonstrated, similar to mitochondrial alterations demonstrated in liver and brain in this disease. Muscle fibers with red-staining subsarcolemmal aggregates were identified with Gomori trichome stain in two cases. Subsarcolemmal and intermyofibrillar zones of increased concentrations of NADH-TR, SDH, and cytochrome-c-oxidase activity were demonstrated histochemically in all four cases. Degenerative and cytoarchitectural changes in muscle fibers were not found. Ultrastructural studies showed large aggregates of mitochondria and increased lipid in the subsarcolemmal and intermyofibrillar spaces. Degenerative changes in mitochondria and lipid also were demonstrated, but paracrystalline inclusions were not seen. The distribution of these changes was not uniform between patients or between different muscles in the same patient. The diaphragm was affected more severely than proximal or distal muscles of the extremities. Direct involvement of muscle mitochondria in this disease may interfere with energy metabolism and contribute to the clinical findings of hypotonia, weakness, and respiratory insufficiency. The muscle biopsy with histochemistry and electron microscopy may be used as a diagnostic adjunct in suspected cases, but the variation encountered dictates caution in the interpretation of negative findings.

Transcutaneous Carbon Dioxide Measurement in Adult Patients with Neuromuscular Disorders: A quality Level Assessment

2020 ◽  
pp. 1-9
Author(s):  
Katrien De Braekeleer ◽  
Michel Toussaint
Keyword(s):  
Carbon Dioxide ◽  
Neuromuscular Disorders ◽  
Carbon Dioxide Tension ◽  
Clinical Findings ◽  
Quality Level ◽  
Drift Correction ◽  
Gas Measurements ◽  
Pco2 Monitoring ◽  
High Level

Background: Carbon dioxide tension (PCO2) monitoring during sleep, is crucial to identify respiratory failure in patients with neuromuscular disorders (NMD). Transcutaneous PCO2 monitoring is an available technique to measure PCO2. Objectives: To assess the quality level of transcutaneous blood gas measurements via SenTec monitor. Methods: A 12-month analysis of SenTec measurements was conducted in a Belgian Centre for Home Mechanical Ventilation (HMV). Over two consecutive nights; SpO2 and PCO2 measurements, the presence of PCO2 drift and drift correction with SenTec, were reviewed and scores (0, 1, 2 for poor, medium and high level) were assigned to estimate the quality of measurements. Results: Sixty-nine NMD patients met the inclusion criteria, of which 48/69 used HMV. PCO2 drift and drift correction were present in 15% and 68% of the 138 recordings, respectively. The quality level of measurements throughout night 1, scored 1.55 (0–2). The relevance of our clinical findings from SenTec scoring 1.94 (1–2); was considered highly satisfactory. HMV was ineffective in 24/48 patients. Among 12 patients with hypercapnia, 8 patients improved PCO2 between night 1 and 2. Among 12 patients with hypocapnia, PCO2 improved in 4/12 patients, who reached the range of normal PCO2 (35–47 mmHg). Conclusions: The quality of SenTec measurements was acceptable in the majority of recordings and clinical findings were deemed satisfactory in all cases. A single SenTec measurement was sufficient to determine the need for NIV. However, two SenTec registrations were insufficient to both improve NIV effectiveness in 50% of cases, and, to ensure follow-up of our interventions.

scholarly journals Frontotemporal Dementia: A Clinical Review

2019 ◽  
Vol 39 (02) ◽  
pp. 251-263 ◽  
Author(s):  
Harri Sivasathiaseelan ◽  
Charles Marshall ◽  
Jennifer Agustus ◽  
Elia Benhamou ◽  
Rebecca Bond ◽  
...  
Keyword(s):  
Neural Network ◽  
Frontotemporal Dementia ◽  
Clinical Symptoms ◽  
Cellular Level ◽  
Diverse Group ◽  
Disease Modification ◽  
Selective Targeting ◽  
Young Onset Dementia ◽  
Presymptomatic Diagnosis ◽  
Frontotemporal Dementias

AbstractFrontotemporal dementias are a clinically, neuroanatomically, and pathologically diverse group of diseases that collectively constitute an important cause of young-onset dementia. Clinically, frontotemporal dementias characteristically strike capacities that define us as individuals, presenting broadly as disorders of social behavior or language. Neurobiologically, these diseases can be regarded as “molecular nexopathies,” a paradigm for selective targeting and destruction of brain networks by pathogenic proteins. Mutations in three major genes collectively account for a substantial proportion of behavioral presentations, with far-reaching implications for the lives of families but also potential opportunities for presymptomatic diagnosis and intervention. Predicting molecular pathology from clinical and radiological phenotypes remains challenging; however, certain patterns have been identified, and genetically mediated forms of frontotemporal dementia have spearheaded this enterprise. Here we present a clinical roadmap for diagnosis and assessment of the frontotemporal dementias, motivated by our emerging understanding of the mechanisms by which pathogenic protein effects at the cellular level translate to abnormal neural network physiology and ultimately, complex clinical symptoms. We conclude by outlining principles of management and prospects for disease modification.

Osteoblast cell signalling: have our views have changed?

2012 ◽  
Vol 3 (1) ◽  
pp. 56-61
Author(s):  
Fraser McDonald
Keyword(s):  
Tooth Movement ◽  
Care Delivery ◽  
Cell Signalling ◽  
Orthodontic Tooth Movement ◽  
Cellular Level ◽  
Clinical Findings ◽  
External Loading ◽  
Relative Role ◽  
Tissue Fluid

Many theories are advanced with respect to the behaviour of bone under external loading. Essentially they divide into external loading (with respect to tension and compression), tissue-fluid-based theories and electrical-based theories. While this appears to be a distinct classification with regard to an understanding of these theories, it must be emphasised that each theory has a significant inter-relationship with the others. It is also essential to differentiate that, while an effect can be identified at the cellular level, the relative importance and significance of this can be limited in vivo and its relative role and importance overwhelmed by other loading issues. In this article consideration is given to a possible basis of orthodontic tooth movement and like so many other hypotheses it is difficult to directly evaluate and measure; it must be considered by deduction of current known facts. The concept was initially reported when comparing bone remodelling in a femur with orthodontic tooth movement;1 further data is now available although the concept is not completely acceptable. It does, however, produce an explanation for some clinical findings which assist us in our orthodontic care delivery.

scholarly journals Inherited Ventricular Arrhythmias, the Channelopathies and SCD; Current Knowledge and Future Speculation – Epidemiology and Basic Electrophysiology

2020 ◽  
Author(s):  
Abdullah Abdulrhman Al Abdulgader
Keyword(s):  
Current Knowledge ◽  
Well Being ◽  
Clinical Findings ◽  
Therapeutic Options ◽  
Next Generation ◽  
New Era ◽  
Cardiac Ion Channels ◽  
Scientific Exploration ◽  
Management Plans ◽  
Near Future

This chapter represents advanced scientific exploration in the different disciplines of SCD and channelopathy. Epidemiology of SCD and channelopathy is given special attention. The essence of detailed electrophysiological bases of the different diseases of channelopathies and the diverse cellular pathways mandated detailed discussion that can open the closed doors that we faced to the next generation(s). Special sections have been devoted to spatial as well as temporal heterogeneity of the cardiac action potential. Genetic heterogeneity and allelic heterogeneity are two prominent findings of channelopathies that confirm the fact of the major overlap in the field. The way we present the clinical findings is a true call for the next generation(s) of clinicians and researchers to revolutionize the field in the near future. Detailed management plans based on the up to date basic sciences findings for the different channelopathies give better therapeutic options for the clinicians in the field. Unique to this chapter is the new directions to look for channelopathies beyond the human body. The new understanding of the psychophysiological well-being of HRV and the sympathovagal balance extending to cosmic resonances and its possible effect on cardiac ion channels carries new era of promising preventive, diagnostic and therapeutic options.

The first case of human alveolar echinococcosis in Hungary

2008 ◽  
Vol 149 (17) ◽  
pp. 795-799 ◽  
Author(s):  
Andrea Horváth ◽  
Attila Patonay ◽  
Dénes Bánhegyi ◽  
János Szlávik ◽  
György Balázs ◽  
...  
Keyword(s):  
Central Europe ◽  
Echinococcus Multilocularis ◽  
Alveolar Echinococcosis ◽  
Red Fox ◽  
Clinical Findings ◽  
Therapeutic Options ◽  
Endemic Region ◽  
First Case ◽  
Hungarian Case ◽  
Hepatic Lesions

Infection caused by Echinococcus multilocularis is a rare helminthiasis, human cases have not been diagnosed in Hungary until now. The endemic region is Central Europe; the occurrence of this infection has been reported from most of the neighbouring countries; however, E. multilocularis has been found in the red fox population in Hungary. Summarizing the recent knowledge concerning epidemiological, clinical patterns and therapeutic options, the authors describe the first Hungarian case of alveolar echinococcosis. In the presence of appropriate clinical findings, the possibility of this rare infection has to be considered in the differencial diagnosis of infiltrative hepatic lesions.

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