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Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathy and heart failure. These mutations were described in the mt-tRNA genes and in the mitochondrial protein-coding genes. The aim of this study was to identify the genetic defect in two patients belonging to two families with cardiac dysfunction associated to a wide spectrum of clinical phenoty
Genes encoding the DNA helicase TWINKLE (C10orf2) or the two subunits of mtDNA polymerase γ (POLγ) (POLG1 and POLG2) have a direct effect on the mitochondrial DNA replication machinery and were reported in many mitochondrial disorders. Friedreich's ataxia (FRDA) is the common cause of ataxia often associated with the expansion of a GAA repeat in intron 1 of the frataxin gene (FXN). Mitochondrial D
This article reflects results from the technology screening and analyses of passive and active measures applied to large scale residential building refurbishments, focusing on the facade. This work is part of the research study ‘multi-active façade' that focuses on the development of an innovative facade concept suitable for the refurbishment challenges that the ambitious Swedish housing programme
It was estimated that about 0.5% of the world’s population is in need of assistive devices; in 2013, the number of people who required such aid was estimated at 25 million in Africa and Asia. The majority of these people could have increased their participation within society by receiving an assistive device to facilitate mobilisation, recognised as a step in accessing basic human rights such as f
Background: About 73% of the population in Sierra Leone live in multidimensional poverty which makes Sierra Leone to be one of the poorest countries in the world. Sierra Leone suffered from a decade long civil war, 1991-2002, where humiliating methods were used such as machete amputations of civilians and the progress of eradicating poliomyelitis was hindered. Purpose: The aim of this study was to
Mitochondrial DNA (mtDNA) defects were known to be associated with a large spectrum of human diseases and patients might present wide range of clinical features with various combinations. Mutations in mitochondrial tRNAs, rRNAs and protein-coding genes or large-scale rearrangements have been implicated in several cytopathies. Mitochondrial myopathies, usually maternally inherited group of neuromus
To investigate the spectrum of common mitochondrial mutations in Tunisia during the years of 2002-2012, 226 patients with mitochondrial disorders were clinically diagnosed with hearing loss, Leigh syndrome (LS), diabetes, cardiomyopathy, Kearns-Sayre syndrome (KSS), Pearson syndrome (PS), myopathy, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) a
Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. Sensorineural hearing loss (SNHL) has been described in association to different mitochondrial multisystem syndromes, often involving the central nervous system, neuromuscular, or endocrine organs. In this study, we described a Tunisian young girl w
Pompe disease is a progressive metabolic myopathy caused by deficiency in lysosomal acid α-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of clinical phenotypes exists from hypotonia and severe cardiac hypertrophy in the first few months of life to a milder form with the onset of symptoms in adulthood. The disease is typically due to severe mut
Background: The landlocked mountain country of Nepal has an extreme topography and is one of the poorest and least developed countries in the world. Nepal has ratified and signed the Convention on the Rights of Persons with Disabilities (CRPD). To understand what is required to improve prosthetic provision and services for persons living with an amputation in low-income countries, it is of interes
Cytochrome c oxidase encoded by multiple mitochondrial genes (COXI, COXII, and COXIII) and nuclear genes is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. Subunits COXI and COXII of cytochrome c oxidase are known to play the most essential role in proton pumping and electron transfer. In this study we screened
Pearson syndrome (PS) is a multisystem disease including refractory anemia, vacuolization of marrow precursors and pancreatic fibrosis. The disease starts during infancy and affects various tissues and organs, and most affected children die before the age of 3years. Pearson syndrome is caused by de novo large-scale deletions or, more rarely, duplications in the mitochondrial genome. In the present
Mitochondria are essential for early cardiac development and impaired regulation of mitochondrial function was implicated in congenital heart diseases. We described a newborn girl with hypertrophic cardiomyopathy and profound hearing loss. The mtDNA mutational analysis revealed the presence of known polymorphisms associated to cardiomyopathy and/or hearing loss, and 2 novel heteroplasmic mutations
Cytochrome c oxidase is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. In this study, the authors report the second mutation associated with Leigh syndrome in the blood and buccal mucosa of 2 affected members of a Tunisian family. It was a novel heteroplasmic missense mitochondrial mutation at nucleotide 9478
Background: Sierra Leone is a low income country in West Africa that has a history of conflict. Sierra Leone have signed and ratified the Convention of Rights of Persons with Disabilities.Aim: To evaluate persons with disability that use prosthetic and orthotic assistive devices access to human rights. The addressed areas were; right to health, right to a standard of living adequate for health, ri
Kearns-Sayre syndrome is a mitochondrial disorder characterized by the emergence before the age of 20 years of progressive external ophthalmoplegia, pigmentary retinopathy, with other heterogeneous clinical manifestations. Generally, mitochondrial DNA deletions were associated with KSS but the size and position of these deletions differ among patients. This study reported a Tunisian patient with t
Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafnes
Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, dystonia, failure to thrive, seizures and respiratory failure. In this study, we performed a systematic sequence analysis of mitochondrial genes associated with LS in Tunisian patients. We sequenced the encoded complex I unit
Frostnedbrytning av betong kan få allvarliga konsekvenser för en konstruktions säkerhet, beständighet och funktionsduglighet eftersom betongens hållfasthet försämras. Frostskador uppstår vanligtvis i konstruktioner med hög fuktbelastning och som periodvis utsätts för frostangrepp. Olika typer av betongskador, vilka kan misstänkas vara frostrelaterade, har påträffats i svenska vattenkraftsanläggninFrost deterioration of concrete can result in severe consequences to the safety, durability and functionality of a structure since it impairs the strength of the concrete. Frost damage may occur to structures that are in contact with water and subjected to frost action. Different types of concrete damage, which are suspected to be frost related, have been observed in concrete structures in Swedish
