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Massimiliano Filosto, Stefano Cotti Piccinelli, Costanza Lamperti, Tiziana Mongini, Serenella Servidei, Olimpia Musumeci, Paola Tonin, Filippo Maria Santorelli, Costanza Simoncini, Guido Primiano, Liliana Vercelli, Anna Rubegni, Anna Galvagni, Maurizio Moggio, Giacomo Pietro Comi, Valerio Carelli, Antonio Toscano, Alessandro Padovani, Gabriele Siciliano, Michelangelo Mancuso
Muscle pain may be part of many neuromuscular disorders including myopathies, peripheral neuropathies and lower motor neuron diseases. Although it has been reported also in mitochondrial diseases (MD), no extensive studies in this group of diseases have been performed so far. We reviewed clinical data from 1398 patients affected with mitochondrial diseases listed in the database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases", to assess muscle pain and its features. Muscle pain was present in 164 patients (11...
February 2, 2019: Journal of Neurology
Tomohiko Imamura, Naokata Sumitomo, Shota Muraji, Hitoshi Mori, Yousuke Osada, Takayuki Oyanagi, Takuro Kojima, Shigeki Yoshiba, Toshiki Kobayashi, Katsushige Ono
The most common cardiac feature of Kearns-Sayre syndrome (KSS) is atrioventricular block (AVB), and pacemaker implantations (PMIs) are recommended for KSS patients with advanced AVB. However, some KSS patients develop fatal arrhythmias such as polymorphic ventricular tachycardia (PMVT) and ventricular fibrillation (VF) and die suddenly even after PMIs. We report a patient with KSS who developed PMVT, VF, and QT prolongation, and was treated with mexiletine and successfully managed with an implantable cardioverter defibrillator (ICD)...
December 27, 2018: International Journal of Cardiology
Marketa Tesarova, Alzbeta Vondrackova, Hana Stufkova, Lenka Veprekova, Viktor Stranecky, Kamila Berankova, Hana Hansikova, Martin Magner, Natalia Galoova, Tomas Honzik, Elena Vodickova, Jan Stary, Jiri Zeman
BACKGROUND: Sideroblastic anemia represents a heterogeneous group of inherited or acquired diseases with disrupted erythroblast iron utilization, ineffective erythropoiesis, and variable systemic iron overload. In a cohort of 421 patients with multisystem mitochondrial diseases, refractory anemia was found in 8 children. RESULTS: Five children had sideroblastic anemia with increased numbers of ring sideroblasts >15%. Two of the children had a fatal course of MLASA1 syndrome (mitochondrial myopathy, lactic acidosis, and sideroblastic anemia [SA]) due to a homozygous, 6-kb deletion in the PUS1 gene, part of the six-member family of pseudouridine synthases (pseudouridylases)...
December 26, 2018: Pediatric Blood & Cancer
Stephen H Tsang, Alicia R P Aycinena, Tarun Sharma
Mitochondrial diseases are multisystem disorders: anemia, myopathy, lactic acidosis, CNS abnormality, endocrine abnormalities, renal disease, sensorineural deafness, and retinal involvement. The clinical abnormalities are heterogeneous, and they usually begin in childhood. Premature death occurs because of cardiac conduction defects. The onset is usually before 20 years of age. The fundus shows pigmentary retinopathy, with a salt-and-pepper appearance (Fig. 30.1), but vision remains good in most patients. Systemic involvement includes chronic progressive external ophthalmoplegia (CPEO), with ptosis being the most common complaint, and cardiomyopathy...
2018: Advances in Experimental Medicine and Biology
Angélica Saldaña-Martínez, María de Lourdes Muñoz, Gerardo Pérez-Ramírez, José Francisco Montiel-Sosa, Julio Montoya, Sonia Emperador, Eduardo Ruiz-Pesini, Sergio Cuevas-Covarrubias, Jaime López-Valdez, Rubén García Ramírez
Mitochondria both produce the energy of the cell as ATP via respiration and regulate cellular metabolism. Accordingly, any deletion or mutation in the mitochondrial DNA (mtDNA) may result in a disease. One of these diseases is Kearns Sayre syndrome (KSS), described for the first time in 1958, where different large-scale deletions of different sizes and at different positions have been reported in the mitochondrial genome of patients with similar clinical symptoms. In this study, sequences of the mitochondrial genome of three patients with clinic features of KSS were analyzed...
December 4, 2018: Gene
Sang Jun Lee, Ji Hoon Na, Jinu Han, Young Mock Lee
PURPOSE: To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease. MATERIALS AND METHODS: Among 372 patients with mitochondrial disease who visited our hospital between January 2006 and January 2016, 21 patients with ophthalmoplegia were retrospectively identified. Inclusion criteria included onset before 20 years of age, pigmentary retinopathy, and cardiac involvement. The 16 patients who were finally included in the study were divided into three groups according to disease type: Kearns-Sayre syndrome (KSS), KSS-like, and chronic progressive external ophthalmoplegia (CPEO)...
December 2018: Yonsei Medical Journal
Ines Maaloul, Hajer Aloulou, Sana Kmiha, Yassine Belfitouri, Hassen Kamoun, Faiza Fakhfakh, Imen Chabchoub, Thouraya Kammoun, Mongia Hachicha
BACKGROUND: Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues. AIM: To report the clinical and biochemical characteristics and theoutcome of 8 patients with hypoparathyroidism. METHODS: We analyzed retrospectively the results of clinical, biochemical, radiological findings of patients with hypoparathyroidism diagnosed in pediatric department of Hedi Chaker Hospital during the period 1994-2013...
August 2018: La Tunisie Médicale
Mira Trivedi, Amy Goldstein, Gaurav Arora
Cardiac conduction disease affects patients with Kearns-Sayre syndrome. We report a young asymptomatic patient with Kearns-Sayre syndrome with abnormal conduction on electrocardiogram and Holter monitor, although not advanced atrioventricular block. She underwent prophylactic pacemaker placement, and rapidly developed complete atrioventricular block, which resulted in 100% ventricular pacing. It may be reasonable to consider prophylactic pacemaker implantation in patients with Kearns-Sayre syndrome with evidence of cardiac conduction disease even without overt atrioventricular block given its unpredictable progression to complete atrioventricular block...
December 2018: Cardiology in the Young
Srikanta Kumar Padhy, Vinod Kumar, Sohini Mandal
No abstract text is available yet for this article.
October 2, 2018: BMJ Case Reports
Florentine Radelfahr, Thomas Klopstock
Mitochondrial diseases (MD) represent a heterogenous group of disorders and syndromes caused either by mutations of the mitochondrial DNA (mtDNA) or the nuclear DNA (nDNA). They belong to the most frequent neurogenetic diseases. The spectrum of clinical manifestations is very broad ranging from mild subclinical presentations to rapidly progressive debilitating conditions with reduced life expectancy. Mitochondrial dysfunction can affect any organ of the body; the clinical presentation is often most severe in tissues with high energy demands...
September 2018: Fortschritte der Neurologie-Psychiatrie
J Finsterer, S Zarrouk-Mahjoub
OBJECTIVES: Little is known about cardiac involvement in m.3243A>G variant carriers. Thus, this study aimed to assess type and frequency of cardiac disease in symptomatic and asymptomatic m.3243A>G carriers. METHODS: Systematic literature review. RESULTS: The m.3243A>G variant may manifest phenotypically as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), myoclonic epilepsy with ragged red fiber (MERRF), Leigh syndrome, or MELAS/KSS (Kearns-Sayre syndrome) overlap...
August 20, 2018: Herz
Susann Kummer, Ekkehard Wilichowski
Kearns-Sayre syndrome (KSS) is a multisystemic disorder marked by aerobic cell metabolism dysfunction. Fibroblasts derived from KSS patient skin biopsy exhibit heterogeneous occurrence of mitochondrial genomes as those circular DNA molecules partially carry the common deletion. In our approach, we aim to evaluate the intercellular alterations in respect to mitochondrial DNA integrity by laser capture microdissection and multiplex quantitative real-time PCR in single cells. The obtained results give new insights into the understanding of mitochondrial genetics, e...
August 6, 2018: Mitochondrion
Marta Batllori, Marta Molero-Luis, Aida Ormazabal, Raquel Montero, Cristina Sierra, Antonia Ribes, Julio Montoya, Eduardo Ruiz-Pesini, Mar O'Callaghan, Leticia Pias, Andrés Nascimento, Francesc Palau, Judith Armstrong, Delia Yubero, Juan D Ortigoza-Escobar, Angels García-Cazorla, Rafael Artuch
Mitochondrial diseases are a group of genetic disorders leading to the dysfunction of mitochondrial energy metabolism pathways. We aimed to assess the clinical phenotype and the biochemical cerebrospinal fluid (CSF) biogenic amine profiles of patients with different diagnoses of genetic mitochondrial diseases. We recruited 29 patients with genetically confirmed mitochondrial diseases harboring mutations in either nuclear or mitochondrial DNA (mtDNA) genes. Signs and symptoms of impaired neurotransmission and neuroradiological data were recorded...
July 4, 2018: Journal of Inherited Metabolic Disease
Josef Finsterer, Sinda Zarrouk-Mahjoub
Not available.
May 29, 2018: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
Cornelius Rodney Ramcharan
Mitochondrial diseases are complex and rare clinical entities that can sometimes be diagnosed by their constellation of simple clinical signs. We describe a 24-year-old insulin-dependent diabetic women who was diagnosed with complete heart block and required permanent pacemaker implantation. Astute physical examination revealed opthalmoparesis, ptosis, and pigmentary retinopathy consistent with a diagnosis of Kearns-Sayre syndrome. When a young patient presents with complete heart block, a neurologic examination including funduscopy can identify Kearns-Sayre syndrome, which has far-reaching consequence for the index patient and offspring...
May 2018: Canadian Journal of Cardiology
Iman S Al-Gadi, Richard H Haas, Marni J Falk, Amy Goldstein, Shana E McCormack
Context: Endocrine disorders are common in individuals with mitochondrial disease. To develop evidence-based screening practices in this high-risk population, updated age-stratified estimates of the prevalence of endocrine conditions are needed. Objective: To measure the point prevalence of selected endocrine disorders in individuals with mitochondrial disease. Design Setting and Patients: The North American Mitochondrial Disease Consortium Patient Registry is a large, prospective, physician-curated cohort study of individuals with mitochondrial disease...
April 1, 2018: Journal of the Endocrine Society
Michela Semeraro, Sara Boenzi, Rosalba Carrozzo, Daria Diodato, Diego Martinelli, Giorgia Olivieri, Giacomo Antonetti, Elisa Sacchetti, Giulio Catesini, Cristiano Rizzo, Carlo Dionisi-Vici
Single large-scale mitochondrial DNA deletions disorders are classified into three main phenotypes with frequent clinical overlap: Pearson marrow-pancreas syndrome (PMS), Kearns-Sayre syndrome (KSS) and chronic progressive external ophtalmoplegia (PEO). So far, only few anecdotal studies have reported on the urinary organic acids profile in this disease class. In this single-center retrospective study, we performed quantitative evaluation of urinary organic acids in a series of 15 pediatric patients, 7 with PMS and 8 with KSS...
June 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Agostino Berio, Attilia Piazzi, Carlo Enrico Traverso
The Authors report on a patient with Kearns-Sayre syndrome, large mtDNA deletion (7/kb), facial abnormalities and severe central nervous system (CNS) white matter radiological features, commonly attributed to spongy alterations. The common origin from neural crest cell (NCC) of facial structures (cartilagineous, osseous, vascular and of the peripheral nervous system) and of peripheral glia and partially of the CNS white matter are underlined and the facial and glial abnormalities are attributed to the abnormal reproduction/migration of NCC...
December 15, 2017: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
Maria Del Mar Amador, Benoit Colsch, Foudil Lamari, Claude Jardel, Farid Ichou, Agnès Rastetter, Frédéric Sedel, Fabien Jourdan, Clément Frainay, Ronald A Wevers, Emmanuel Roze, Christel Depienne, Christophe Junot, Fanny Mochel
BACKGROUND: In 2009, untargeted metabolomics led to the delineation of a new clinico-biological entity called cerebellar ataxia with elevated cerebrospinal free sialic acid, or CAFSA. In order to elucidate CAFSA, we applied sequentially targeted and untargeted omic approaches. METHODS AND RESULTS: First, we studied five of the six CAFSA patients initially described. Besides increased CSF free sialic acid concentrations, three patients presented with markedly decreased 5-methyltetrahydrofolate (5-MTHF) CSF concentrations...
May 2018: Journal of Inherited Metabolic Disease
Abdulmohsen Al Ghamdi
Kearns-Sayre syndrome (KSS), a rare form of mitochondrial myopathy, is a triad of chronic progressive external ophthalmoplegia, bilateral pigmentary retinopathy, and cardiac conduction abnormalities. In this report, we show how a combined spinal epidural anesthesia can be useful for cesarean delivery, as we illustrate in a dual-chamber and VVI implantable defibrillator pacemaker/defibrillator parturient with a KSS and preeclampsia.
January 2018: Saudi Journal of Anaesthesia
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