نتایج جستجو برای: melas

تعداد نتایج: 971  

2018
Arianna Di Stadio Valentina Pegoraro Laura Giaretta Laura Dipietro Roberta Marozzo Corrado Angelini

AIM To evaluate the feasibility of microRNAs (miR) in clinical use to fill in the gap of current methodology commonly used to test hearing impairment in MELAS patients. MATERIAL AND METHOD A literature review was performed using the following keywords, i.e., MELAS, Hearing Loss, Hearing Impairment, Temporal Bone, Otoacustic Emission (OTOAE), Auditory Brain Response (ABR), and microRNA. We rev...

Journal: :Korean journal of otorhinolaryngology-head and neck surgery 2023

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder. MELAS manifests different clinical symptoms due to heteroplasmy individual susceptibility tends be aggravated by metabolic events. It presents various manifestations including hearing impairment, diabetes mellitus, stroke like episodes. However, date, only f...

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 W...

Journal: :Ecotoxicology and Environmental Safety 2021

The Tablas de Daimiel National Park (TDNP) is a floodplain ecosystem in central Spain with potential risk of heavy metal and metalloid pollution. objective this study was to know the accumulation arsenic (As), cadmium (Cd), mercury (Hg), lead (Pb), selenium (Se) muscle six species freshwater fish from TDNP. We obtained samples Cyprinus carpio (n = 89); Squalius pyrenaicus 16); Ameiurus melas 9)...

2017
Sailaja Golla Jimin Ren Craig R. Malloy Juan M. Pascual

OBJECTIVE There is a paucity of objective, quantifiable indicators of mitochondrial disease available for clinical and scientific investigation. METHODS To this end, we explore intramyocellular lipid (IMCL) accumulation noninvasively by 7T magnetic resonance spectroscopy (MRS) as a reporter of metabolic dysfunction in MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like ep...

Journal: :Croatian medical journal 2002
Nina Barisić Irena Martin Kleiner Ivan Malcić Jurica Papa Milivoj Boranić

We describe a case of mitochondrial encephalopathy, lactacidosis, and stroke-like episode (MELAS syndrome) associated with ventricular septal defect and meningocele at the L3 level in a 5-year-old girl. Mitochondrial DNA analysis showed point mutation at nucleotide 3271--> TC. The occurrence of heart and neural tube defects in association with usual features of the MELAS syndrome might be expla...

Journal: :Molecular genetics and metabolism reports 2015
Tamara Thomas William J Craigen Ryan Moore Richard Czosek John L Jefferies

A 44-year-old female with a diagnosis of mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS) syndrome had progressive left ventricular hypertrophy (LVH) on echocardiogram. A Holter monitor demonstrated episodes of non-sustained atrial tachycardia, a finding not been previously described in this population. This unique case of MELAS syndrome demonstrates the known associated ...

GR ZAMANI, M GHOFRANI,

MELAS syndrome is a mitochondrial disorder with progressive nature, because adequate treatment is not available. Diagnosis of this mitochondrial disorder depends initially on clinical suspicion, which is strengthened by additional metabolic evidence of impaired oxidative metabolism such as high serum or C.S.F. lactate levels and confirmed by demonstration of mitochondrial abnormalities-in ...

Journal: :Psychiatria polska 2014
Martin Magner Tomas Honzik Marketa Tesarova Veronika Dvorakova Hana Hansiková Jiři Raboch Jiři Zeman

OBJECTIVES Mitochondrial disorders of energetic metabolism (MD) represent a heterogeneous group of diseases manifesting at any age with a broad spectrum of clinical symptoms, including psychiatric disorders. METHODS The aim of the study was to characterize psychiatric symptoms and diagnoses in five patients with MELAS syndrome between the ages of 17 and 53 years. RESULTS Four of MELAS patie...

Journal: :Clinical molecular pathology 1995
C W Lam K Jain K Y Chan D K Silva Y W Chan L J Wong

The clinical presentation and the biochemical and molecular genetic findings are described in a 13 year old Chinese boy with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The diagnosis was initially suspected because of the characteristic clinical features and the strong family history of convulsions. Using polymerase chain reaction-restriction enzyme analy...

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