Search results for: MELAS

Authors: Wu Liching

Abstract:

Aim This case aims to discuss the pathogenesis, clinical manifestations and medical treatment of strokes caused by mitochondrial gene mutations. Methods Diagnosis of ischemic stroke caused by mitochondrial gene defect by means of "next-generation sequencing mitochondrial DNA gene variation detection", imaging examination, neurological examination, and medical history; this study took samples from the neurology ward of a medical center in northern Taiwan cases diagnosed with acute cerebral infarction as the research objects. Result This case is a 49-year-old married woman with a rare disease, mitochondrial gene mutation inducing ischemic stroke. She has severe hearing impairment and needs to use hearing aids, and has a history of diabetes. During the patient’s hospitalization, the blood test showed that serum Lactate: 7.72 mmol/L, Lactate (CSF) 5.9 mmol/L. Through the collection of relevant medical history, neurological evaluation showed changes in consciousness and cognition, slow response in language expression, and brain magnetic resonance imaging examination showed subacute bilateral temporal lobe infarction, which was an atypical type of stroke. The lineage DNA gene has m.3243A>G known pathogenic mutation point, and its heteroplasmic level is 24.6%. This pathogenic point is located in MITOMAP and recorded as Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) , Leigh Syndrome and other disease-related pathogenic loci, this mutation is located in ClinVar and recorded as Pathogenic (dbSNP: rs199474657), so it is diagnosed as a case of stroke caused by a rare disease mitochondrial gene mutation. After medical treatment, there was no more seizure during hospitalization. After interventional rehabilitation, the patient's limb weakness, poor language function, and cognitive impairment have all improved significantly. Conclusion Mitochondrial disorders can also be associated with abnormalities in psychological, neurological, cerebral cortical function, and autonomic functions, as well as problems with internal medical diseases. Therefore, the differential diagnoses cover a wide range and are not easy to be diagnosed. After neurological evaluation, medical history collection, imaging and rare disease serological examination, atypical ischemic stroke caused by rare mitochondrial gene mutation was diagnosed. We hope that through this case, the diagnosis of rare disease mitochondrial gene variation leading to cerebral infarction will be more familiar to clinical medical staff, and this case report may help to improve the clinical diagnosis and treatment for patients with similar clinical symptoms in the future.

Keywords: acute stroke, MELAS, lactic acidosis, mitochondrial disorders

Procedia PDF Downloads 43

Authors: Daniele Contini, Antonio Donateo, Andrea Gambaro, Athanasios Argiriou, Dimitrios Melas, Daniela Cesari, Anastasia Poupkou, Athanasios Karagiannidis, Apostolos Tsakis, Eva Merico, Rita Cesari, Adelaide Dinoi

Abstract:

Emissions of atmospheric pollutants from ships and harbour activities are a growing concern at International level given their potential impacts on air quality and climate. These close-to-land emissions have potential impact on local communities in terms of air quality and health. Recent studies show that the impact of maritime traffic to atmospheric particulate matter concentrations in several coastal urban areas is comparable with the impact of road traffic of a medium size town. However, several different approaches have been used for these estimates making difficult a direct comparison of results. In this work an integrated approach based on emission inventories and dedicated measurement campaigns has been applied to give a comparable estimate of the impact of maritime traffic to PM2.5 and particle number concentrations in three major harbours of the Adriatic/Ionian Seas. The influences of local meteorology and of the logistic layout of the harbours are discussed.

Keywords: ship emissions, PM2.5, particle number concentrations, impact of shipping to atmospheric aerosol

Procedia PDF Downloads 726