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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...
October 17, 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
Zhan-Yun Lv, Xue-Mei Xu, Xiao-Fu Cao, Qian Wang, Da-Fang Sun, Wen-Jing Tian, Yan Yang, Yu-Zhong Wang, Yan-Lei Hao
RATIONALE: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus." PATIENT CONCERNS: We report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions...
December 2017: Medicine (Baltimore)
Mani Ram Krishna
A 15-year-old boy was diagnosed with Kayne Sayre Syndrome. He presented with pigmentary retinopathy, progressive ophthalmoplegia and complete heart block. He received a transvenous dual chamber pacemaker. Two years later he died suddenly while at home. This case highlights the importance of recognizing mechanisms other than heart block as a cause of sudden death in a patient with KSS.
May 2017: Indian Pacing and Electrophysiology Journal
Konstantinos Katsoulos, Gerasimos Livir Rallatos, Ioannis Mavrikakis
PURPOSE: To present the management of three patients suffering from ptosis of various etiologies, with scleral contact lenses. MATERIAL AND METHODS: Three patients (five eyes) with ptosis resulting from levator dehiscence due to long-term rigid gas permeable contact lens wear for keratoconus, phthisis bulbi, and myopathy due to Kearns-Sayre syndrome were identified during a 2-year period. They were fitted with scleral contact lenses in order to provide cosmesis by lifting the upper eyelid with the bulk of the lens, and simultaneously provide vision correction where applicable...
June 2018: Orbit
Alvaro Ortiz, Juan Arias, Pedro Cárdenas, John Villamil, Marcela Peralta, Luis C Escaf, Jacobo Ortiz
BACKGROUND: To report the clinical, electrophysiological and the anatomical findings in a patient with Kearns-Sayre syndrome (KSS). CASE PRESENTATION: We present the case of a 55-year-old female with KSS, who developed systemic features and ocular manifestations as ophthalmoplegia and retinal dysfunction, that were corroborated by electrophysiological test and High Definition Spectral Domain Optical Coherence Tomography (HD SD OCT) and OCT-Angiography (OCT-A). CONCLUSION: We report a patient with KSS, accompanied by some alterations of the RPE and photoreceptors observed in the external HD SD OCT and OCT-A...
2017: International Journal of Retina and Vitreous
Neeru A Vallabh, Vito Romano, Colin E Willoughby
The cornea is the anterior transparent surface and the main refracting structure of the eye. Mitochondrial dysfunction and oxidative stress are implicated in the pathogenesis of inherited (e.g. Kearns Sayre Syndrome) and acquired corneal diseases (e.g. keratoconus and Fuchs endothelial corneal dystrophy). Both antioxidants and reactive oxygen species are found in the healthy cornea. There is increasing evidence of imbalance in the oxidative balance and mitochondrial function in the cornea in disease states...
September 2017: Mitochondrion
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