keyword
https://read.qxmd.com/read/36813323/progressive-external-ophthalmoplegia
#21
REVIEW
Michio Hirano, Robert D S Pitceathly
Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye movements, is a clinical syndrome with an expanding number of etiologically distinct subtypes. Advances in molecular genetics have revealed numerous pathogenic causes of PEO, originally heralded in 1988 by the detection of single large-scale deletions of mitochondrial DNA (mtDNA) in skeletal muscle of people with PEO and Kearns-Sayre syndrome. Since then, multiple point variants of mtDNA and nuclear genes have been identified to cause mitochondrial PEO and PEO-plus syndromes, including mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and sensory ataxic neuropathy dysarthria ophthalmoplegia (SANDO)...
2023: Handbook of Clinical Neurology
https://read.qxmd.com/read/36729003/kearns-sayre-syndrome-masquerading-as-myasthenia-gravis
#22
JOURNAL ARTICLE
Jared T Sokol, Sandra Hoyek, Anne B Fulton, Nimesh A Patel
PURPOSE: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion syndrome that is characterized by the triad of onset commonly before age twenty, pigmentary retinopathy, and chronic progressive external ophthalmoplegia. Here we present a case of KSS masquerading as myasthenia gravis (MG). METHODS: Case report. RESULTS: A 15-year-old male with a presumed diagnosis of MG presented with blurry vision, ophthalmoplegia, and ptosis. He was found to have a mitochondrial pigmentary retinopathy and was eventually diagnosed with KSS after mtDNA sequencing revealed a novel large-scale deletion of 7...
December 22, 2022: Retinal Cases & Brief Reports
https://read.qxmd.com/read/36674647/adrenal-dysfunction-in-mitochondrial-diseases
#23
REVIEW
Madeleine Corkery-Hayward, Louise A Metherell
Cortisol is central to several homeostatic mechanisms including the stress and immune response. Adrenal insufficiency and impaired cortisol production leads to severe, potentially fatal disorders. Several fundamental stages of steroidogenesis occur within the mitochondria. These dynamic organelles not only contribute ATP for steroidogenesis, but also detoxify harmful by-products generated during cortisol synthesis (reactive oxygen species). Mutations in nuclear or mitochondrial DNA that impair mitochondrial function lead to debilitating multi-system diseases...
January 6, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/36542693/mitochondrial-augmentation-of-hematopoietic-stem-cells-in-children-with-single-large-scale-mitochondrial-dna-deletion-syndromes
#24
JOURNAL ARTICLE
Elad Jacoby, Omer Bar-Yosef, Noah Gruber, Einat Lahav, Nira Varda-Bloom, Yoav Bolkier, Diana Bar, Moriya Ben-Yakir Blumkin, Sharon Barak, Etzyona Eisenstein, Jaana Ahonniska-Assa, Tamar Silberg, Tal Krasovsky, Orly Bar, Neta Erez, Bella Bielorai, Hana Golan, Benjamin Dekel, Michal J Besser, Gat Pozner, Hanan Khoury, Alan Jacobs, John Campbell, Eli Herskovitz, Noa Sher, Natalie Yivgi-Ohana, Yair Anikster, Amos Toren
Patients with single large-scale mitochondrial DNA (mtDNA) deletion syndromes (SLSMDs) usually present with multisystemic disease, either as Pearson syndrome in early childhood or as Kearns-Sayre syndrome later in life. No disease-modifying therapies exist for SLSMDs. We have developed a method to enrich hematopoietic cells with exogenous mitochondria, and we treated six patients with SLSMDs through a compassionate use program. Autologous CD34+ hematopoietic cells were augmented with maternally derived healthy mitochondria, a technology termed mitochondrial augmentation therapy (MAT)...
December 21, 2022: Science Translational Medicine
https://read.qxmd.com/read/36341171/folic-acid-inhibits-5-methyltetrahydrofolate-transport-across-the-blood-cerebrospinal-fluid-barrier-clinical-biochemical-data-from-two-cases
#25
Tomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, Naohiro Yamamoto, Yumi Yamada, Kazuya Igarashi, Tomohiko Ishihara, Yuya Hatano, Katsuhiro Kobayashi
Objective: The use of folic acid (FA) has been discouraged in cerebral folate deficiency (CFD) because, theoretically, it could inhibit the transport of 5-methyltetrahydrofolic acid (5MTHF) across the blood-cerebrospinal fluid (CSF) barrier. We present the clinical biochemical data of two cases with CFD to support this hypothesis. Methods: We measured CSF and serum 5MTHF concentrations in a patient with Kearns-Sayre syndrome (KSS) and a patient homozygous for MTHFR C677T polymorphism before and during folate supplementation therapy...
November 2022: JIMD Reports
https://read.qxmd.com/read/36330549/mitochondrial-disorders-understanding-mitochondrial-dna-point-mutations-and-deletion-syndromes
#26
JOURNAL ARTICLE
Beth Heuer, Diane C Seibert
Mitochondrial disorders arise from DNA mutations in either the mitochondrial DNA (mtDNA) or nuclear DNA genomes. This article focuses on a mtDNA base-pair mutation associated with neuropathy, ataxia, and retinitis pigmentosa and Leigh syndrome and the large-scale mtDNA deletion associated with Kearns-Sayre syndrome. Disease sequelae and management strategies are reviewed, along with implications for the nurse practitioner in primary or specialty care.
August 1, 2022: Journal of the American Association of Nurse Practitioners
https://read.qxmd.com/read/36295831/stroke-like-episodes-in-inherited-neurometabolic-disorders
#27
REVIEW
Natalia Będkowska, Aneta Zontek, Justyna Paprocka
Stroke-like episodes (SLEs) are significant clinical manifestations of metabolic disorders affecting the central nervous system. Morphological equivalents presented in neuroimaging procedures are described as stroke-like lesions (SLLs). It is crucial to distinguish SLEs from cerebral infarction or intracerebral hemorrhage, mainly due to the variety in management. Another significant issue to underline is the meaning of the main pathogenetic hypotheses in the development of SLEs. The diagnostic process is based on the patient's medical history, physical and neurological examination, neuroimaging techniques and laboratory and genetic testing...
September 30, 2022: Metabolites
https://read.qxmd.com/read/36253820/pearson-syndrome-a-multisystem-mitochondrial-disease-with-bone-marrow-failure
#28
REVIEW
Ayami Yoshimi, Kaori Ishikawa, Charlotte Niemeyer, Sarah C Grünert
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). Most patients present with anemia in infancy. Bone marrow cytology with vacuolization in erythroid and myeloid precursors and ring-sideroblasts guides to the correct diagnosis, which is established by detection of SLSMDs. Non hematological symptoms suggesting a mitochondrial disease are often lacking at initial presentation, thus PS is an important differential diagnosis in isolated hypogenerative anemia in infancy...
October 17, 2022: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/36208035/ventricular-arrhythmias-in-kearns-sayre-syndrome-a-cohort-study-using-the-national-inpatient-sample-database-2016-2019
#29
JOURNAL ARTICLE
Kyle Wiseman, Dhairya Gor, Ndausung Udongwo, Abbas Alshami, Vandan Upadhaya, Steven J Daniels, Wendy K Chung, Charles H Koo
BACKGROUND: Degeneration of the cardiac conduction system resulting in complete heart block (CHB), ventricular arrhythmias (VA), and sudden cardiac death (SCD) is recognized in patients with Kearns-Sayre syndrome (KSS) and is potentially preventable with permanent pacemaker (PPM) implantation. However, other mechanisms for SCD have been proposed, and the efficacy of implanting a defibrillator instead of PPM remains to be investigated. METHODS: We utilized the National Inpatient Sample (NIS) database 2016-2019 to investigate the risk of VA or dysrhythmic cardiac arrest (dCA) in KSS patients...
October 8, 2022: Pacing and Clinical Electrophysiology: PACE
https://read.qxmd.com/read/36181358/kearns-sayre-syndrome-case-novel-5-9-kb-mtdna-deletion
#30
JOURNAL ARTICLE
Kristina Grigalionienė, Birutė Burnytė, Danutė Balkelienė, Laima Ambrozaitytė, Algirdas Utkus
BACKGROUND: Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and a typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction anomalies. In most cases KSS is caused by spontaneous heteroplasmic single large-scale mitochondrial DNA (mtDNA) deletions. Long-range polymerase chain reaction (LR-PCR), next generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) are the most widely applied methods for the identification of mtDNA deletions...
October 1, 2022: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/35877583/low-prevalence-of-cardiomyopathy-in-patients-with-mitochondrial-disease-and-neurological-manifestations
#31
JOURNAL ARTICLE
Anish Nikhanj, Jesi Bautista, Zaeem A Siddiqi, Cecile L Phan, Gavin Y Oudit
Patients with mitochondrial diseases can develop cardiomyopathy but with variable expressivity and penetrance. Our prospective study enrolled and evaluated a cohort of 53 patients diagnosed with chronic progressive ophthalmoplegia (CPEO, n = 34), Kearns-Sayre syndrome (KSS, n = 3), neuropathy ataxia and retinitis pigmentosa (NARP, n = 1), myoclonic epilepsy with ragged red fibers (MERRF, n = 1), Harel-Yoon Syndrome (HYS, n = 1) and 13 patients with undefined mitochondrial diseases, presenting primarily with neurological symptoms...
July 9, 2022: Journal of Cardiovascular Development and Disease
https://read.qxmd.com/read/35795638/case-report-kearns-sayre-syndrome-complicated-with-postpartum-cardiac-failure
#32
Caixia Han, Zongyang Jia, Guangcai Zhao, Wenhui Chen, Yue Hu, Haiying Liu
Kearns Sayre Syndrome (KSS) is a rare mitochondrial disease characterized by a primary dysfunction of the mitochondrial respiratory chain. Cardiac involvement is a poor prognostic factor of KSS. Pregnancy and delivery in a KSS patient with cardiac involvement is uncommon, and strategies for the supervision and management of this group remain unclear. Herein, we report and discuss pregnancy and delivery complicated with acute cardiopulmonary failure in a woman with KSS.
2022: Frontiers in Medicine
https://read.qxmd.com/read/35791170/lady-in-red-a-case-of-kearns-sayre-syndrome-supported-by-histopathology
#33
JOURNAL ARTICLE
Kanika Godani, Dipankar Das, Kasturi Bhattacharjee, Harsha Bhattacharjee, Riddhi Raichura
No abstract text is available yet for this article.
July 2022: Indian Journal of Ophthalmology
https://read.qxmd.com/read/35791168/potpourri-of-retinopathies-in-rare-eye-disease-a-case-series
#34
JOURNAL ARTICLE
Neelam Pawar, George J Manayath, Shishir Verghese, Prithvi Chandrakanth, Virna Shah, Ashwini Raut, Swarna Gaikwad, Parth A Patil, Mansha Daswani, R Meenakshi, Kalpana Narendran, Venkatapathy Narendran
This case series describes the ocular and retinal manifestations of rare eye diseases in systemic syndromes. This observational case series consists of five patients with varied ophthalmic manifestations and documentation of imaging in rare pediatric and adult retinopathies. Two patients had Kearns Sayre syndrome (KSS) based on the classical triad of external ophthalmoplegia, pigmentary retinopathy, and onset before 20 years of age. In one patient of KSS, the mitochondrial retinopathy was seen in an asymmetric pattern, and the second patient presented with KSS after being mis-diagnosed as myasthenia gravis elsewhere...
July 2022: Indian Journal of Ophthalmology
https://read.qxmd.com/read/35789979/diabetes-out-of-the-box-diabetes-mellitus-and-impairment-in-hearing-and-vision
#35
REVIEW
Noah Gruber, Orit Pinhas-Hamiel
PURPOSEOF REVIEW: This review aims to provide an update on the etiologies of diabetes that are due to genetic disorders and that co-occur with impaired hearing or vision and to compare them. The potential mechanisms, including novel treatments, will be detailed. RECENT FINDINGS: Wolfram syndrome, Kearns-Sayre syndrome, thiamine-responsive megaloblastic anemia, and maternally inherited diabetes and deafness are genetic disorders characterized by diabetes, impaired hearing, and vision...
July 5, 2022: Current Diabetes Reports
https://read.qxmd.com/read/35758105/eye-movement-disorders-in-inborn-errors-of-metabolism-a-quantitative-analysis-of-37-patients
#36
JOURNAL ARTICLE
Lisette H Koens, Inge Tuitert, Hans Blokzijl, Marc Engelen, Femke C C Klouwer, Fiete Lange, Wilhelmina G Leen, Roelineke J Lunsing, Johannes H T M Koelman, Aad Verrips, Tom J de Koning, Marina A J Tijssen
Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late-onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment. Eye movement disorders are considered to be frequent too, although specific knowledge is lacking. We describe and analyze eye movements in patients with an inborn error of metabolism, and see whether they can serve as an additional clue in the diagnosis of particularly late-onset inborn errors of metabolism...
September 2022: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/35721635/ophthalmologic-school-based-screening-revealing-kearns-sayre-syndrome-a-case-report
#37
Amine Ennejjar, Salma Moutamani, Taha Boutaj, Wiame Touil, Abdellah Amazouzi, Ouafa Cherkaoui
Kearns-Sayre syndrome is a rare mitochondrial disorder. It had a triad of features, including progressive external ophthalmoplegia, pigmentary retinopathy, and an alteration of cardiac conduction. The ocular manifestations include bilateral ptosis, progressive external ophthalmoplegia, and atypical pigmentary retinopathy. We report the case of a 9-year-old Moroccan patient who has been diagnosed with Kearns-Sayre syndrome during an ophthalmologic school-based screening. This case highlights the interest of school-based screening in the diagnosis and management of a rare disease...
2022: Pan African Medical Journal
https://read.qxmd.com/read/35704901/high-grade-idiopathic-atrioventricular-block-in-childhood-case-report-and-literature-review
#38
REVIEW
José Miguel Gutiérrez-Gallego, María Fernanda Estrada-Perez, Freddy Andrés Barrios-Arroyave, Juan Diego Torrente-López, Adoniran Correal-Barrios
Atrioventricular blocks are chronotropic abnormalities produced by multifactorial alterations in the cardiac innervation system, specifically between the internodal pathways between the sinus node and the atrioventricular node. These bradyarrhythmias represent 2.3% of cardiac alterations in intrauterine life, registering one case for every 20 000 to 25 000 live births. However, its occurrence in childhood and adolescence is unknown. Likewise, the percentage of idiopathic atrioventricular blocks in this group in Colombia is unknown to date...
June 15, 2022: Medwave
https://read.qxmd.com/read/35502402/kearns-sayre-syndrome-minus-two-cases-of-identical-large-scale-mitochondrial-dna-deletions-with-presentations-outside-the-classical-triad
#39
Shir Wey Gloria Pang, Hencher Han Chih Lee, Carol Ng Wing Kei, Eric Kin Cheong Yau, Joannie Hui
A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns-Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA deletions presenting before adulthood, primarily with chronic progressive external ophthalmoplegia (CPEO) and pigmentary retinopathy. However, it is increasingly noted that the presentations can well be variable despite similar genetic deletions. Here, we present two cases with identical large-scale mitochondrial DNA deletions but very dissimilar outlook...
2022: Case Reports in Genetics
https://read.qxmd.com/read/35500790/2022-hrs-expert-consensus-statement-on-evaluation-and-management-of-arrhythmic-risk-in-neuromuscular-disorders
#40
William J Groh, Deepak Bhakta, Gordon F Tomaselli, Ryan G Aleong, Ricardo Alkmim Teixeira, Anthony Amato, Samuel J Asirvatham, Yong-Mei Cha, Domenico Corrado, Denis Duboc, Zachary D Goldberger, Minoru Horie, Joseph E Hornyak, John Lynn Jefferies, Stefan Kääb, Jonathan M Kalman, Naomi J Kertesz, Neal K Lakdawala, Pier D Lambiase, Steven A Lubitz, Hugh J McMillan, Elizabeth M McNally, Margherita Milone, Narayanan Namboodiri, Saman Nazarian, Kristen K Patton, Vincenzo Russo, Frederic Sacher, Pasquale Santangeli, Win-Kuang Shen, Dario C Sobral Filho, Bruce S Stambler, Claudia Stöllberger, Karim Wahbi, Xander H T Wehrens, Menachem Mendel Weiner, Matthew T Wheeler, Katja Zeppenfeld
This international multidisciplinary document is intended to guide electrophysiologists, cardiologists, other clinicians, and health care professionals in caring for patients with arrhythmic complications of neuromuscular disorders (NMDs). The document presents an overview of arrhythmias in NMDs followed by detailed sections on specific disorders: Duchenne muscular dystrophy, Becker muscular dystrophy, and limb-girdle muscular dystrophy type 2; myotonic dystrophy type 1 and type 2; Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B; facioscapulohumeral muscular dystrophy; and mitochondrial myopathies, including Friedreich ataxia and Kearns-Sayre syndrome, with an emphasis on managing arrhythmic cardiac manifestations...
October 2022: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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