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https://www.readbyqxmd.com/read/29043143/focal-segmental-glomerulosclerosis-associated-with-mitochondrial-disease
#1
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: Clin Nephrol Case Stud
https://www.readbyqxmd.com/read/29026367/mitochondrial-encephalomyopathy-with-lactic-acidosis-and-stroke-like-episodes-melas-syndrome
#2
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
#3
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
https://www.readbyqxmd.com/read/28973171/defective-mitochondrial-rrna-methyltransferase-mrm2-causes-melas-like-clinical-syndrome
#4
Caterina Garone, Aaron R D'Souza, Cristina Dallabona, Tiziana Lodi, Pedro Rebelo-Guiomar, Joanna Rorbach, Maria Alice Donati, Elena Procopio, Martino Montomoli, Renzo Guerrini, Massimo Zeviani, Sarah E Calvo, Vamsi K Mootha, Salvatore DiMauro, Ileana Ferrero, Michal Minczuk
Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or more OXPHOS complexes. Here, we report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes. Multiple OXPHOS defects and decreased mtDNA copy number (40%) were detected in muscle homogenate. Clinical features combined with low level of plasma citrulline were highly suggestive of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, however, the common m...
August 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28893805/melas-syndrome-associated-with-a-new-mitochondrial-trna-val-gene-mutation-m-1616a-g
#5
Yuka Toyoshima, Yuji Tanaka, Kazuo Satomi
We describe the case of a 40-year-old-man with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, with cardiomyopathy and severe heart failure. He had a mitochondrial transfer RNA (tRNA) mutation (m.1616A>G) of the (tRNA-Val) gene, and it was not found in MELAS syndrome ever before. The presence of this newly observed tRNA-Val mutation (m.1616A>G) may induce multiple respiratory chain enzyme deficiencies and contribute to MELAS syndrome symptoms that are associated with mitochondrial DNA (mtDNA) mutations...
September 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28818358/black-toenail-sign-in-melas-syndrome
#6
Matthew T Whitehead, Michael Wien, Bonmyong Lee, Nancy Bass, Andrea Gropman
BACKGROUND: Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a mitochondrial disorder often causing progressive brain injury that is not confined to large arterial territories. Severe insults ultimately lead to gyral necrosis affecting the cortex and juxtacortical white matter; the neuroimaging correlate is partial gyral signal suppression on T2/FLAIR sequences that resemble black toenails. We aimed to characterize the imaging features and the natural history of MELAS-related gyral necrosis...
October 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28736735/arginine-and-citrulline-for-the-treatment-of-melas-syndrome
#7
Ayman W El-Hattab, Mohammed Almannai, Fernando Scaglia
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) syndrome is a maternally inherited mitochondrial disease with a broad spectrum of manifestations. In addition to impaired energy production, nitric oxide (NO) deficiency occurs in MELAS syndrome and leads to impaired blood perfusion in microvasculature that can contribute to several complications including stroke-like episodes, myopathy, and lactic acidosis. The supplementation of NO precursors, L-arginine and L-citrulline, increases NO production and hence can potentially have therapeutic utility in MELAS syndrome...
January 2017: Journal of Inborn Errors of Metabolism and Screening
https://www.readbyqxmd.com/read/28667360/cortical-venous-disease-severity-in-melas-syndrome-correlates-with-brain-lesion-development
#8
M T Whitehead, M Wien, B Lee, N Bass, A Gropman
PURPOSE: MELAS syndrome is a mitochondrial disorder typified by recurrent stroke-like episodes, seizures, and progressive brain injury. Abnormal mitochondria have been found in arterial walls implicating a vasculogenic etiology. We have observed abnormal cortical vein T2/FLAIR signal in MELAS patients, potentially representing wall thickening and sluggish flow. We sought to examine the relationship of hyperintense veins and brain lesions in MELAS. METHODS: Imaging databases at two children's hospitals were searched for brain MRIs from MELAS patients...
August 2017: Neuroradiology
https://www.readbyqxmd.com/read/28639102/the-clinical-and-genetic-characteristics-in-children-with-mitochondrial-disease-in-china
#9
Fang Fang, Zhimei Liu, Hezhi Fang, Jian Wu, Danmin Shen, Suzhen Sun, Changhong Ding, Tongli Han, Yun Wu, Junlan Lv, Lei Yang, Shufang Li, Jianxin Lv, Ying Shen
Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of children with mitochondrial disease in China. We tested 141 candidate patients who have been suspected of mitochondrial disorders by using targeted next-generation sequencing (NGS), and summarized the clinical and genetic data of gene confirmed cases from Neurology Department, Beijing Children's Hospital, Capital Medical University from October 2012 to January 2015...
July 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28528606/vitiligo-not-simply-a-skin-disease
#10
REVIEW
Jusleen Ahluwalia, Lilia M Correa-Selm, Babar K Rao
Melanocytes, the cells responsible for skin pigmentation, are present in other parts of the body, such as the ocular, auditory, nervous, and cardiac systems. Within these systems, their roles serve a different purpose than their classical counterparts in skin as pigment cells. Such roles include cell turnover in retinal pigment epithelium, maintenance of balance and prevention of environmental damage in the auditory neuroepithelium, role-playing as dendritic cells within the leptomeninges, and prevention of oxidative damage in adipose tissue...
2017: Skinmed
https://www.readbyqxmd.com/read/28515163/assessment-of-nitric-oxide-production-in-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes-syndrome-with-the-use-of-a-stable-isotope-tracer-infusion-technique
#11
REVIEW
Ayman W El-Hattab, Farook Jahoor
Mitochondrial disorders result from dysfunctional mitochondria that are unable to generate sufficient energy to meet the needs of various organs. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. There is growing evidence that nitric oxide (NO) deficiency occurs in MELAS syndrome and results in impaired blood perfusion that contributes significantly to several complications in this disease. NO is synthesized from arginine by NO synthase, which catalyzes the conversion of arginine to NO and citrulline...
July 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28499982/identification-of-fastkd2-compound-heterozygous-mutations-as-the-underlying-cause-of-autosomal-recessive-melas-like-syndrome
#12
Da Hye Yoo, Young-Chul Choi, Da Eun Nam, Sun Seong Choi, Ji Won Kim, Byung-Ok Choi, Ki Wha Chung
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many parts of the body, particularly the brain and muscles. This study examined a Korean MELAS-like syndrome patient with seizure, stroke-like episode, and optic atrophy. Target sequencing of whole mtDNA and 73 nuclear genes identified compound heterozygous mutations p.R205X and p.L255P in the FASTKD2. Each of his unaffected parents has one of the two mutations, and both mutations were not found in 302 controls...
July 2017: Mitochondrion
https://www.readbyqxmd.com/read/28449805/spectrum-of-mismatch-repair-gene-mutations-and-clinical-presentation-of-hispanic-individuals-with-lynch-syndrome
#13
Annette Y Sunga, Charité Ricker, Carin R Espenschied, Danielle Castillo, Marilena Melas, Josef Herzog, Sarah Bannon, Marcia Cruz-Correa, Patrick Lynch, Ilana Solomon, Stephen B Gruber, Jeffrey N Weitzel
Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is caused by mismatch repair (MMR) gene mutations. However, data about MMR mutations in Hispanics are limited. This study aims to describe the spectrum of MMR mutations in Hispanics with LS and explore ancestral origins. This case series involved an IRB-approved retrospective chart review of self-identified Hispanic patients (n = 397) seen for genetic cancer risk assessment at four collaborating academic institutions in California, Texas, and Puerto Rico who were evaluated by MMR genotyping and/or tumor analysis...
April 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28398928/anesthetic-management-of-mitochondrial-encephalopathy-with-lactic-acidosis-and-stroke-like-episodes-melas-syndrome-in-a-high-risk-pregnancy-a-case-report
#14
Josh D Bell, Kushlin Higgie, Mital Joshi, Joshua Rucker, Sahar Farzi, Naveed Siddiqui
MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and stroke-like symptoms) is a rare and complex mitochondrial disorder. We present the in-hospital course of a 36-year-old gravida 2, para 0 with MELAS syndrome and severe preeclampsia, complicated by hyponatremia, hyperkalemia, and diabetes. A retained placenta with postpartum hemorrhage required urgent instrumental delivery under spinal anesthesia, transfusion, and intensive care unit admission for pulmonary edema, effusions, and atelectasis. Postpartum endometritis and sepsis also were encountered...
July 15, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28283275/kidney-involvement-in-melas-syndrome-description-of-2-cases
#15
Pau Alcubilla-Prats, Manel Solé, Albert Botey, Josep Maria Grau, Glòria Garrabou, Esteban Poch
INTRODUCTION: MELAS syndrome -myopathy, encephalopathy, lactic acidosis and stroke-like episodes- is a maternally-inherited mitochondrial cytopathy related to several mitochondrial DNA mutations, with the A3243G mutation in tRNA(Leu) gene being the most frequent of them. PATIENTS AND METHODS: Apart from its typical symptomatology, patients usually exhibit a maternally-inherited history of neurosensory deafness and insulin-dependent type 2 diabetes mellitus (T2DM)...
April 21, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28242802/uncommon-mutation-in-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes-melas
#16
Jasna David, Julie Omolola Okiro, Kevin Murphy, Marwa Elamin
A 26-year-old man presented to the emergency department with new-onset generalised tonic-clonic seizures. His clinical picture suggested either autoimmune or infectious encephalitis while his brain imaging raised the possibility of a stroke. A detailed developmental and childhood medical history added suspicion of a mitochondrial defect to the differential. After several molecular genetic analyses, an uncommon mitochondrial mutation was confirmed, unequivocally consistent with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome...
February 27, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28169007/identification-of-the-first-in-poland-cacna1a-gene-mutation-in-familial-hemiplegic-migraine-case-report
#17
Biruta Kierdaszuk, Dorota Dziewulska, Ewa Pronicka, Joanna Trubicka, Dariusz Rokicki, Dorota Piekutowska-Abramczuk, Magdalena Kaliszewska, Katarzyna Tonska, Ewa Bartnik, Rafal Ploski, Anna M Kaminska
INTRODUCTION: Migraine is a common neurological disorder characterized by a particular phenotype, complex pathophysiology and a heterogeneous genetic background. Among several heritable forms, familial hemiplegic migraine is the best described one. In the majority of cases it is caused by mutations in one of three different genes. CASE REPORT: Clinical symptoms of a 47 year old proband (and independently described in his 20 year old son) as well as differential diagnosis are discussed in the presented report...
March 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28000982/prognostication-in-melas-syndrome-and-other-m-3243a-g-mutation-associated-disorders
#18
EDITORIAL
W B V R Pinto, P V S Souza, A S B Oliveira
No abstract text is available yet for this article.
February 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27993886/acquired-dysfibrinogenemia-caused-by-autoantibody-inhibiting-fibrin-polymerization-in-a-patient-with-melas-syndrome-and-bleeding-tendency
#19
Nuri Lee, Ji-Eun Kim, Hyun Ju Yoo, JaYoon Gu, Hyori Kim, Junho Chung, Youngil Koh, Hyun Kyung Kim
We present a case of acquired dysfibrinogenemia caused by an autoantibody that inhibited fibrin polymerization in a patient previously diagnosed with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes). The patient showed prolonged PT, aPTT, and thrombin time. There was no factor deficiency but fibrinogen antigen and activity were decreased. ELISA for detection of fibrinogen antibodies were performed and IgG purified from the patient's plasma bound to fibrinogen more strongly than did control IgG, indicating the presence of a fibrinogen-specific antibody...
December 2016: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/27920873/migratory-stroke-like-lesions-in-a-case-of-adult-onset-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes-melas-syndrome-and-a-review-of-imaging-findings
#20
Stephen S Cai, Rainer von Coelln, Theresa J Kouo
Imaging findings of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is poorly documented. The authors present a 48-year-old woman with subacute onset of word-finding difficulties and right arm stiffness. Magnetic resonance imaging performed 2 weeks prior revealed left temporal lobe diffusion and fluid-attenuated inversion recovery hyperintensity predominantly involving the cortex. The apparent diffusion coefficient map showed preserved signal in the temporal cortex...
December 2016: Radiology case reports
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