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https://www.readbyqxmd.com/read/29594260/endocrine-disorders-in-primary-mitochondrial-disease
#1
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
https://www.readbyqxmd.com/read/29545765/clinical-characteristics-and-etiology-of-bilateral-vestibular-loss-in-a-cohort-from-central-illinois
#2
Jorge C Kattah
Background: Previous series of bilateral vestibular loss (BVL) identified numerous etiologies, but surprisingly, a cause in a significant number of cases remains unknown. In an effort to understand possible etiology and management strategies, a global effort is currently in progress. Here, I contribute my 10-year experience with both acute and chronic BVL during the 2007-2017 decade. Methods: This is a retrospective review of the charts and EMR of patients diagnosed with BVL in the last 10 years...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29506874/mt-nd5-mutation-exhibits-highly-variable-neurological-manifestations-at-low-mutant-load
#3
Yi Shiau Ng, Nichola Z Lax, Paul Maddison, Charlotte L Alston, Emma L Blakely, Philippa D Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A Morris, Smaragda Kamakari, Georgia Chrousos, Richard J Rodenburg, Christiaan G J Saris, Catherine Feeney, Steven A Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G Hanna, Akira Ohtake, Andrew M Schaefer, Mike P Champion, Doug M Turnbull, Robert W Taylor, Robert D S Pitceathly, Robert McFarland, Gráinne S Gorman
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Ten patients were deceased at the time of analysis (median age of death was 10years (range: 5·4months-37years, IQR=17·9years). Nine patients manifested with LS, one with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), and one with Leber hereditary optic neuropathy...
February 24, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29482705/melas-a-complex-and-challenging-diagnosis
#4
Kumail Khandwala, Anwar Ahmed, Taha Sheikh
Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare multisystem disorder and is the most common maternally inherited mitochondrial disease. This condition has a special predilection for the nervous system and muscles. Typical findings on brain imaging include stroke-like areas, calcification of basal ganglia and brain atrophy. This accounts for the disease being, both clinically and radiologically, mistaken for ischemic stroke. The differentiation features from stroke include comparatively young age of the patients, site of the lesions, and relative overlap between the cerebral vasculature territories...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29460913/-migraine-masks-differential-diagnosis-of-acute-headache
#5
A V Sergeev
Differential diagnosis of migraine, can be difficult, especially of migraine with aura. On the one hand, some diseases can produce symptoms similar to migraine (cerebral aneurysm before rupture, reversible cerebral vasoconstriction syndrome). On the other hand, migraine with aura and some other disorders are conditions that have common pathophysiological mechanisms (e.g., CADASIL and MELAS syndrome, antiphospholipid syndrome). Thirdly, clinical presentations of migraine are often difficult to distinguish from features of other headache conditions (migraine with aura - transient ischemic attack, migraine with visual aura - occipital epilepsy)...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29454073/the-accumulation-of-assembly-intermediates-of-the-mitochondrial-complex-i-matrix-arm-is-reduced-by-limiting-glucose-uptake-in-a-neuronal-like-model-of-melas-syndrome
#6
Guillaume Geffroy, Rayane Benyahia, Samuel Frey, Valerie Desquiret-Dumas, Naig Gueguen, Celine Bris, Sophie Belal, Aurore Inisan, Aurelie Renaud, Arnaud Chevrollier, Daniel Henrion, Dominique Bonneau, Franck Letournel, Guy Lenaers, Pascal Reynier, Vincent Procaccio
Ketogenic diet (KD) which combined carbohydrate restriction and the addition of ketone bodies has emerged as an alternative metabolic intervention used as an anticonvulsant therapy or to treat different types of neurological or mitochondrial disorders including MELAS syndrome. MELAS syndrome is a severe mitochondrial disease mainly due to the m.3243A > G mitochondrial DNA mutation. The broad success of KD is due to multiple beneficial mechanisms with distinct effects of very low carbohydrates and ketones...
February 14, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29441214/syndromic-hearing-loss-a-brief-review-of-common-presentations-and-genetics
#7
REVIEW
John D Gettelfinger, John P Dahl
Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF...
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29428506/8-year-retrospective-analysis-of-intravenous-arginine-therapy-for-acute-metabolic-strokes-in-pediatric-mitochondrial-disease
#8
Rebecca D Ganetzky, Marni J Falk
BACKGROUND: Intravenous (IV) arginine has been reported to ameliorate acute metabolic stroke symptoms in adult patients with Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) syndrome, where its therapeutic benefit is postulated to result from arginine acting as a nitric oxide donor to reverse vasospasm. Further, reduced plasma arginine may occur in mitochondrial disease since the biosynthesis of arginine's precursor, citrulline, requires ATP. Metabolic strokes occur across a wide array of primary mitochondrial diseases having diverse molecular etiologies that are likely to share similar pathophysiologic mechanisms...
February 2, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29406897/survival-analysis-of-a-cohort-of-chinese-patients-with-mitochondrial-encephalomyopathy-with-lactic-acidosis-and-stroke-like-episodes-melas-based-on-clinical-features
#9
Zhe Zhang, Danhua Zhao, Xiao Zhang, Hui Xiong, Xinhua Bao, Yun Yuan, Zhaoxia Wang
BACKGROUND: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a common mitochondrial syndrome. The aim of this study was to conduct a survival analysis based on the clinical features of a Chinese MELAS patient cohort. METHODS: This is a retrospective single-center study. The MELAS patients were followed up for 1-8years (median 4years). The disease severity was evaluated by the modified Rankin Scale (mRS). The survival analysis was performed using Kaplan-Meier analysis and Cox proportional hazards model...
February 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29376197/mitochondrial-a3243g-mutation-results-in-corneal-endothelial-polymegathism
#10
Mathieu F Bakhoum, Wei-Pu Wu, Eugenia C White, Jesse D Sengillo, Christian Sanfilippo, Marcelle M Morcos, K Bailey Freund, Henry D Perry, David Sarraf, Stephen H Tsang
PURPOSE: The mitochondrial DNA point mutation A3243G leads to a spectrum of syndromes ranging from MIDD to MELAS. Ocular manifestations include pattern macular dystrophy and concentric perifoveal atrophy. Given the high metabolic demand of corneal endothelial cells, we performed specular biomicroscopy analysis in patients harboring the mitochondrial DNA point mutation A3243G to assess for the associated presence of corneal endothelial abnormalities. METHODS: We present a case series with participants from two institutions...
January 29, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29330965/intrahepatic-bile-duct-primary-cilia-in-biliary-atresia
#11
Roberta Frassetto, Filippo Parolini, Salvatore Marceddu, Giulia Satta, Valeria Papacciuoli, Maria Antonia Pinna, Alessandra Mela, Giannina Secchi, Grazia Galleri, Roberto Manetti, Luisa Bercich, Vincenzo Villanacci, Antonio Dessanti, Roberto Antonucci, Francesco Tanda, Daniele Alberti, Kathleen B Schwarz, Maria Grazia Clemente
No abstract text is available yet for this article.
January 13, 2018: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/29289801/cognitive-impairment-clinical-severity-and-mri-changes-in-melas-syndrome
#12
Torsten Kraya, Lena Neumann, Yvonne Paelecke-Habermann, Marcus Deschauer, Dietrich Stoevesandt, Stephan Zierz, Stefan Watzke
OBJECTIVE: To examine clinical severity, cognitive impairment, and MRI changes in patients with MELAS syndrome. METHODS: Cognitive-mnestic functions, brain MRI (lesion load, cella media index) and clinical severity of ten patients with MELAS syndrome were examined. All patients carried the m.3243A>G mutation. RESULTS: The detailed neuropsychological assessment revealed cognitive deficits in attention, executive function, visuoperception, and -construction...
December 29, 2017: Mitochondrion
https://www.readbyqxmd.com/read/29260009/adult-onset-of-mitochondrial-myopathy-encephalopathy-lactic-acidosis-and-stroke-like-episodes-melas-syndrome-with-hypothyroidism-and-psychiatric-disorders
#13
Yu-Xing Ge, Bo Shang, Wen-Zhen Chen, You Lu, Jue Wang
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a clinical syndrome associated with mitochondrial disorders (MIDs). This report illustrates a case of MELAS syndrome with hypothyroidism and psychiatric disorders, which is different from the common clinical manifestations of MELAS syndrome, such as exercise intolerance, migraine-like headaches, hearing loss and seizures etc. There are considerable interests in the possibility that mitochondrial dysfunction may play a role in the pathogenesis of endocrine dysfunctions and psychiatric disorders in MELAS syndrome...
March 2017: ENeurologicalSci
https://www.readbyqxmd.com/read/29237403/isolated-and-repeated-stroke-like-episodes-in-a-middle-aged-man-with-a-mitochondrial-nd3-t10158c-mutation-a-case-report
#14
Satomi Mezuki, Kenji Fukuda, Tomonaga Matsushita, Yoshihisa Fukushima, Ryu Matsuo, Yu-Ichi Goto, Takehiro Yasukawa, Takeshi Uchiumi, Dongchon Kang, Takanari Kitazono, Tetsuro Ago
BACKGROUND: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, is the most common phenotype of mitochondrial disease. It often develops in childhood or adolescence, usually before the age of 40, in a maternally-inherited manner. Mutations in mitochondrial DNA (mtDNA) are frequently responsible for MELAS. CASE PRESENTATION: A 55-year-old man, who had no family or past history of mitochondrial disorders, suddenly developed bilateral visual field constriction and repeated stroke-like episodes...
December 13, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29215849/-study-of-mitochondrial-dysfunction-using-cytoplasmic-hybrid
#15
REVIEW
V V Sinyov, M A Sazonova, V P Karagodin, A I Ryzhkova, E V Galitsyna, A A Melnichenko, N A Demakova, T P Shkurat, I A Sobenin, A N Orekhov
Aim. This review article describes literature sources devoted to the investigation of mitochondrial dysfunction using cytoplasmic hybrids (cybrids). The presented studies were carried out on cultures of cybrid cell lines HL60, MOL T-4, A549, 143B, HeLa, Arpe-19, HEK-293, SH-SY5Y and NT2. According to the analysis of scientific world literature, some of the most promising models for studying mitochondrial dysfunction are cell cultures without mitochondria (rho0) and cytoplasmic hybrids containing one or several mutations of mitochondrial genome...
April 2017: Patologicheskaia Fiziologiia i èksperimental'naia Terapiia
https://www.readbyqxmd.com/read/29158884/a-mitochondrial-disorder-in-a-middle-age-iranian-patient-report-of-a-rare-case
#16
Mostafa Almasi, Mohammad Reza Motamed, Masoud Mehrpour, Bahram Haghi-Ashtiani, Fahimeh Haji Akhondi, Yalda Nilipour, Seyed-Mohammad Fereshtehnejad
Introduction: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can involve multiple systems and cause stroke-like episodes and status epilepticus. Case Presentation: A 48-year-old female with history of early fatigability, migraine-type headaches, and bilateral sensory-neural hearing loss presented 3 episodes of serial seizures. On admission she was affected by Wernicke aphasia and, then, right hemiparesis. Investigations showed elevated arterial lactate and ragged red fibers on muscle biopsy...
July 2017: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/29139113/prevalence-of-headache-in-patients-with-mitochondrial-disease-a-cross-sectional-study
#17
Torsten Kraya, Marcus Deschauer, Pushpa Raj Joshi, Stephan Zierz, Charly Gaul
BACKGROUND: Mitochondrial diseases are a heterogeneous group of diseases with different phenotypes and genotypes. Headache and, particularly migraine, seems to occur often in patients with MELAS and in patients with CPEO phenotypes. The International Classification of Headache Disorders (ICHD-3 beta) has classified headache as a secondary entity only in MELAS patients. Other headache phenotypes in mitochondrial diseases are not considered in ICHD-3beta. In this study, we analyzed headache phenomenology in a large group of patients with mitochondrial disorders...
January 2018: Headache
https://www.readbyqxmd.com/read/29043143/focal-segmental-glomerulosclerosis-associated-with-mitochondrial-disease
#18
Kenneth Lim, David Steele, Andrew Fenves, Ravi Thadhani, Eliot Heher, Amel Karaa
Primary mitochondrial diseases (MD) are complex, heterogeneous inherited diseases caused by mutations in either the mitochondrial or nuclear DNA. Glomerular diseases in MD have been reported with tRNA mutation m.3243A>G causing a syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). We describe here a case of focal segmental glomerulosclerosis (FSGS) associated with a new tRNA mutation site. A 34-year-old man with a history of living related kidney transplantation, diabetes, hearing loss, and developmental delay presented to the outpatient clinic with complaints of new behavioral difficulties, worsening symptoms, and brain involvement on imaging...
2017: Clinical Nephrology. Case Studies
https://www.readbyqxmd.com/read/29026367/mitochondrial-encephalomyopathy-with-lactic-acidosis-and-stroke-like-episodes-melas-syndrome
#19
Caitlin Henry, Neema Patel, William Shaffer, Lillian Murphy, Joe Park, Bradley Spieler
BACKGROUND: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder that results in waxing and waning nervous system and muscle dysfunction. MELAS syndrome may overlap with other neurologic disorders but shows distinctive imaging features. CASE REPORT: We present the case of a 28-year-old female with atypical stroke-like symptoms, a strong family history of stroke-like symptoms, and a relapsing-remitting course for several years...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/29025253/pathology-of-mitochondria-in-melas-syndrome-an-ultrastructural-study
#20
Paulina Felczak, Eliza Lewandowska, Iwona Stępniak, Monika Ołdak, Agnieszka Pollak, Urszula Lechowicz, Elżbieta Pasennik, Tomasz Stępień, Teresa Wierzba-Bobrowicz
Ultrastructural changes in skeletal muscle biopsy in a 24-year-old female patient with clinically suspected mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome are presented. We observed proliferation and/or pleomorphism of mitochondria in skeletal muscle and smooth muscle cells of arterioles, as well as in pericytes of capillaries. Paracrystalline inclusions were found only in damaged mitochondria of skeletal muscle. Genetic testing revealed a point mutation in A3243G tRNALeu(UUR) typical for MELAS syndrome...
2017: Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists
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