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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
Street lighting is an essential feature of pedestrian paths that may increase the amount of walking. This study aimed to identify associations between perceived lighting qualities, and experience of the lit environment and performance of critical tasks. In a full-scale laboratory 89 participants walked along a pedestrian path with three different outdoor lighting applications (CDM and LEDs). After
To facilitate the justification of an X-ray or nuclear medicine investigation and for informing patients, it is desirable that the individual patient's radiation dose and potential cancer risk can be prospectively assessed and documented. The current dose-reporting is based on effective dose, which ignores body size and does not reflect the strong dependence of risk on the age at exposure. Risk es
Background: TCF7L2 is a central transcription factor in the canonical wingless-type MMTV integration site (WNT) signaling pathway, and genetic variants in TCF7L2 have been found to interact with dietary fiber intake on type 2 diabetes risk. Here, we investigate whether other type 2 diabetes genes could be involved in the WNT signaling pathway and whether variants in such genes might interact with
Silicon photomultipliers (SiPMs) are an enabling solid-state technology for low light sensing, with single photon sensitivity and photon number resolving capability. They feature an extremely high internal gain at the 106 level, comparable to photomultiplier tubes (PMTs), with the advantage of low operating voltage (~50 V compared to ~1000 V for PMT) and low energy consumption. The solid-state tec
One mechanism of resistance of prostate cancer (PCa) to enzalutamide (MDV3100) treatment is the increased expression of AR variants lacking the ligand binding-domain, the best characterized of which is AR-V7. We have previously reported that Phosphatidylinositol-4-phosphate 5-kinase alpha (PIP5Kα), is a lipid kinase that links to CDK1 and AR pathways. The discovery of PIP5Kα inhibitor highlight th
Outdoor lighting makes public space accessible after dark and aims to improve the safety of pedestrians. A systematic literature review shows that facial recognition is the most relevant visual task for judging the potential threat of other pedestrians. In the identified literature it has been operationalized as the task of recognising gender; guessing identity or seeing facial features. However,
