Genetics Home Reference is a service of the National Library of Medicine (NLM), which is part of the National Institutes of Health, an agency of the U.S. Department of Health and Human Services.. For a summary of this resource, see the Genetics Home Reference fact sheet. ...

TY - JOUR. T1 - Mitochondrial myopathies. AU - DiMauro, S.. AU - Bonilla, E.. AU - Zeviani, M.. AU - Nakagawa, M.. AU - DeVivo, D. C.. PY - 1985. Y1 - 1985. N2 - Mitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria. There are a few distinctive syndromes, such as the Kearns-Sayre syndrome; myoclonus epilepsy with ragged-red fibers; and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Biochemically, mitochondrial myopathies can be divided into defects of substrate utilization, oxidation-phosphorylation coupling, and the respiratory chain. Because mitochondria have their own DNA and their own translation and transcription apparatuses, mitochondrial myopathies can be due to defects of either a nuclear or mitochondrial genome and can be transmitted by mendelian or maternal ...

Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. We conducted a retrospective analysis of all known pati …

Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. These three genes provide instructions for making proteins that work together as part of a complex. The protein complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food, particularly protein-rich foods such as milk, meat, and eggs.. Mutations in any of these three genes reduce or eliminate the function of the protein complex, preventing the normal breakdown of leucine, isoleucine, and valine. As a result, these amino acids and their byproducts build up in the body. Because high levels of these substances are toxic to the brain and other organs, their accumulation leads to the serious health problems associated with maple syrup urine disease.. Researchers are studying other genes related to the same protein complex that may also be associated with maple syrup urine disease. ...

MEMORANDUM FOR THE SECRETARY OF STATE. SUBJECT: Delegation of Authority under Section 614 of the Foreign Assistance Act of 1961. By the authority vested in me as President by the Constitution and the laws of the United States of America, including section 301 of title 3, United States Code, I hereby delegate to the Secretary of State the authority under section 614 of the Foreign Assistance Act of 1961 (FAA) to determine whether it is important to the security interests of the United States to furnish up to $123,000,000 in funds made available pursuant to chapter 8 of part I of the FAA to provide assistance for. Ukraine, Tunisia, Honduras, El Salvador, Guatemala, Costa Rica, Panama, Nigeria, Albania, and Vietnam without regard to any provision of law within the scope of section 614(a)(1) of the FAA and to authorize the furnishing of such assistance.. You are authorized and directed to publish this memorandum in the Federal Register.. BARACK OBAMA. ...

Mitochondrial diseases comprise a group of relatively rare (~1 in 5000 adults) but very serious genetic disorders. Mitochondria are often called the 'powerhouses of the cell' because they provide the energy our cells need to live. Mitochondria have their own DNA (mtDNA), but they also rely on DNA from the nucleus (nDNA). Mitochondrial diseases are caused by mutations in either mitochondrial or nuclear DNA that result in poorly functioning mitochondria. This can cause a variety of symptoms including muscle weakness, seizures, mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature death. Most mitochondrial diseases are progressive, and we are unable to cure most of these diseases with currently available treatments.. Research into mitochondrial diseases has been hampered by the low frequency of these disorders and by under-diagnosis by clinicians. This has hindered patient recruitment for research studies and clinical trials. The North American Mitochondrial ...

Genetics Home Reference : 25 Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time. Myoclonus is a term used to describe episodes of sudden, involuntary muscle jerking or twitching that can affect part of the body or the entire body. Myoclonus can occur when an affected person is at rest, and it is made worse by motion, excitement, or flashing light (photic stimulation). In the later stages of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously and affects the entire body. Several types of seizures commonly occur in people with Lafora progressive myoclonus epilepsy. Generalized tonic-clonic seizures (also known as grand mal seizures) affect the entire body, causing muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also experience occipital ...

Genetics Home Reference : 25 Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein. People with lysinuric protein intolerance have features associated with protein intolerance, including an enlarged liver and spleen (hepatosplenomegaly), short stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture (osteoporosis). A lung disorder called pulmonary alveolar proteinosis may also develop. This disorder is characterized by protein deposits in the lungs, which interfere with lung function and can be life-threatening. An accumulation of amino acids in the kidneys can cause end-stage renal disease (ESRD) in which the kidneys become unable to filter ...

In enzymology, a thymidine phosphorylase (EC 2.4.2.4) is an enzyme that catalyzes the chemical reaction thymidine + phosphate ⇌ {\displaystyle \rightleftharpoons } thymine + 2-deoxy-alpha-D-ribose 1-phosphate Thus, the two substrates of this enzyme are thymidine and phosphate, whereas its two products are thymine and 2-deoxy-alpha-D-ribose 1-phosphate. This enzyme is involved in metabolic pathways: purine metabolism/pyrimidine metabolism, bladder cancer, and in the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). This enzyme belongs to the family of glycosyltransferases, specifically the pentosyltransferases. The systematic name of this enzyme class is thymidine:phosphate deoxy-alpha-D-ribosyltransferase. Other names in common use include pyrimidine phosphorylase, thymidine-orthophosphate deoxyribosyltransferase, animal growth regulators, blood platelet-derived endothelial cell, growth factors, blood platelet-derived endothelial cell growth factor, deoxythymidine ...

Looking for online definition of mitochondrial disease in the Medical Dictionary? mitochondrial disease explanation free. What is mitochondrial disease? Meaning of mitochondrial disease medical term. What does mitochondrial disease mean?

The economy of Mali is based to a large extent upon agriculture, with a mostly rural population engaged in subsistence agriculture. Mali is among the ten poorest nations of the world, is one of the 37 Heavily Indebted Poor Countries, and is a major recipient of foreign aid from many sources, including multilateral organizations (most significantly the World Bank, African Development Bank, and Arab Funds), and bilateral programs funded by the European Union, France, United States, Canada, Netherlands, and Germany. Before 1991, the former Soviet Union, China and the Warsaw Pact countries had been a major source of economic and military aid. The per capita gross domestic product (GDP) of Mali was $820 in 1999. Mali's great potential wealth lies in mining and the production of agricultural commodities, livestock, and fish. The most productive agricultural area lies along the banks of the Niger River, the Inner Niger Delta and the southwestern region around Sikasso. This is a chart of trend of gross ...

Chronic progressive external ophthalmoplegia (CPEO), also known as progressive external ophthalmoplegia (PEO), is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows. It is often the only feature of mitochondrial disease, in which case the term CPEO may be given as the diagnosis. In other people suffering from mitochondrial disease, CPEO occurs as part of a syndrome involving more than one part of the body, such as Kearns-Sayre syndrome. Occasionally CPEO may be caused by conditions other than mitochondrial diseases. CPEO is a rare disease that may affect those of all ages, but typically manifests in the young adult years. CPEO is the most common manifestation of mitochondrial myopathy, occurring in an estimated two-thirds of all cases of mitochondrial myopathy. Patients typically present with ptosis (drooping eyelids). Other diseases like Graves' disease, myasthenia gravis and glioma that may cause an external ophthalmoplegia must be ruled out. ...

Identifying and characterizing genes important in normal development and function of the ocular motility system, cranial nerves and brainstem and associated with congenital cranial dysinnervation disorders and related anomalies ...

Alternative Names Return to top Extracorporeal shock wave lithotripsy; Shock wave lithotripsy; Laser lithotripsy; Percutaneous lithotripsy; Endoscopic lithotripsy; ESWL Definition Return to top Lithotripsy is a medical procedure that uses shock waves to break up stones in the kidney, bladder, or ureter (tube that carries urine from your kidneys to your bladder). After the procedure, the tiny pieces of stones pass out of your body in your urine.. Description Return to top Extracorporeal shock wave lithotripsy (ESWL) is the most common type of lithotripsy. "Extracorporeal" means outside the body.. You will wear a medical gown and lie on an exam table on top of a soft, water-filled cushion. You will be given a mild sedative or pain medicine before the procedure starts. You will also be given antibiotics before the procedure starts to prevent infection.. High-energy shock waves, also called sound waves, will pass through your body until they hit the kidney stones. You may feel a tapping sensation ...

TY - JOUR. T1 - Depolarization and cardiolipin depletion in aged rat brain mitochondria. T2 - Relationship with oxidative stress and electron transport chain activity. AU - Sen, Tanusree. AU - Sen, Nilkantha. AU - Jana, Sirsendu. AU - Khan, Firoj Hossain. AU - Chatterjee, Uttara. AU - Chakrabarti, Sasanka. PY - 2007/4/1. Y1 - 2007/4/1. N2 - A noticeable loss of cardiolipin, a significant accumulation of fluorescent products of lipid peroxidation and an increased ability to produce reactive oxygen species in vitro are characteristics of aged rat brain mitochondria, as has been demonstrated in this study. In contrast mitochondrial electron transport chain activity is not significantly compromised except a marginal decline in complex IV activity in aged rat brain. On the other hand, a striking loss of mitochondrial membrane potential occurs in brain mitochondria during aging, which may be attributed to peroxidative membrane damage in this condition. Such mitochondrial dysfunctions as reported here ...

The main purpose of the study was to assess the supporting environment for social entrepreneurship in Tanzania. Specifically, the study aimed at evaluating the current key stakeholders' conceptualisation and recognition of Social Entrepreneurship concept and whether in Tanzania there is a supportive environment for Social Entrepreneurship. This was an exploratory study and was conducted qualitatively.. The approach used was a combination of secondary data and in-depth interviews with policy makers and policy advisers. Findings revealed that most stakeholders are not aware of the concept of Social Entrepreneurship.. The objectives of their organizations showed that they had some elements of Social Entrepreneurship, but this concept was not encompassed in their mission statements. Social entrepreneurship matters were thus not well integrated in their policy missions although the nature of organizational activities revealed some elements in them.. The study concluded that social entrepreneurship in ...

TY - JOUR. T1 - Electron transport chain of Saccharomyces cerevisiae mitochondria is inhibited by H2O2 at succinate-cytochrome c oxidoreductase level without lipid peroxidation involvement. AU - Cortés-Rojo, Christian. AU - Calderó;n-Cortés, Elizabeth. AU - Clemente-Guerrero, Mónica. AU - Manzo-Ávalos, Salvador. AU - Uribe, Salvador. AU - Boldogh, Istvan. AU - Saavedra-Molina, Alfredo. PY - 2007/11. Y1 - 2007/11. N2 - The deleterious effects of H2O2 on the electron transport chain of yeast mitochondria and on mitochondrial lipid peroxidation were evaluated. Exposure to H2O2 resulted in inhibition of the oxygen consumption in the uncoupled and phosphorylating states to 69% and 65%, respectively. The effect of H2O2 on the respiratory rate was associated with an inhibition of succinate-ubiquinone and succinate-DCIP oxidoreductase activities. Inhibitory effect of H2O2 on respiratory complexes was almost completely recovered by β-mercaptoethanol treatment. H2O2 treatment resulted in full ...

Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time. The first sign of progressive external ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or both eyelids. As ptosis worsens, affected individuals may use the forehead muscles to try to lift the eyelids, or they may lift up their chin in order to see. Another characteristic feature of progressive external ophthalmoplegia is weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals have to turn their head to see in different directions, especially as the ophthalmoplegia worsens. People with progressive external ophthalmoplegia may also have general weakness of the muscles used for movement (myopathy), particularly those in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness ...

SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by onset of the following features in infancy or childhood (median age of onset 2 months; range of onset birth to 6 years): psychomotor retardation, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, postnatal growth retardation, and feeding difficulties. Other, less frequent, features include distinctive facial features, contractures, kyphoscoliosis, gastroesophageal reflux, ptosis, choreoathetosis, ophthalmoplegia, and epilepsy (infantile spasms or generalized convulsions). The median survival is 20 years; approximately 30% of affected individuals succumb during childhood. Affected individuals may have hyperintensities in the basal ganglia, cerebral atrophy, and leukoencephalopathy on head MRI. Elevation of methylmalonic acid (MMA) in the urine and plasma is found in a vast majority of affected individuals, although at levels that are far below those

YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRNA for mitochondrial protein synthesis. Here we describe 14 individuals from 11 families presenting with sideroblastic anemia and YARS2 variants that we identified using a sideroblastic anemia gene panel or exome sequencing. The phenotype of these patients ranged from MLASA to isolated congenital sideroblastic anemia. As in previous cases, inter- and intra-familial phenotypic variability was observed, however, this report includes the first cases with isolated sideroblastic anemia and patients with biallelic YARS2 variants that have no clinically ascertainable phenotype. We identified ten novel YARS2 variants and three previously reported variants. In vitro amino-acylation assays of five novel missense variants showed that three had less effect on the ...

The Missing Entrepreneurs 2015 is the third edition in a series of annual reports that provide data and policy analysis on inclusive entrepreneurship. Inclusive entrepreneurship involves business start-up and self-employment activities that contribute to social inclusion as well as to economic growth, covering entrepreneurship activities by social groups such as youth, women, seniors, immigrants and the unemployed. The report contains data on the scale and scope of entrepreneurship and self-employment activities across EU Member States by social target groups, as well as the barriers they face. The report also contains special thematic chapters on supporting growth for entrepreneurs from disadvantaged and under-represented groups, effective coaching and mentoring, and the role of public procurement in supporting inclusive entrepreneurship. Each thematic chapter discusses current policy issues and challenges, and makes recommendations for EU policy makers. The report also provides inspiring ...

In brown-fat mitochondria, fatty acids induce thermogenic uncoupling through activation of UCP1 (uncoupling protein 1). However, even in brown-fat mitochondria from UCP1−/− mice, fatty-acid-induced uncoupling exists. In the present investigation, we used the inhibitor CAtr (carboxyatractyloside) to examine the involvement of the ANT (adenine nucleotide translocator) in the mediation of this UCP1-independent fatty-acid-induced uncoupling in brown-fat mitochondria. We found that the contribution of ANT to fatty-acid-induced uncoupling in UCP1−/− brown-fat mitochondria was minimal (whereas it was responsible for nearly half the fatty-acid-induced uncoupling in liver mitochondria). As compared with liver mitochondria, brown-fat mitochondria exhibit a relatively high (UCP1-independent) basal respiration ('proton leak'). Unexpectedly, a large fraction of this high basal respiration was sensitive to CAtr, whereas in liver mitochondria, basal respiration was CAtr-insensitive. Total ANT protein ...

TY - JOUR. T1 - Age-related increases in oxidatively damaged proteins of mouse kidney mitochondrial electron transport chain complexes. AU - Choksi, Kashyap B.. AU - Nuss, Jonathan E.. AU - Boylston, William H.. AU - Rabek, Jeffrey P.. AU - Papaconstantinou, John. PY - 2007/11/15. Y1 - 2007/11/15. N2 - Mitochondrial dysfunction generates reactive oxygen species (ROS) which damage essential macromolecules. Oxidative modification of proteins, DNA, and lipids has been implicated as a major causal factor in the age-associated decline in tissue function. Mitochondrial electron transport chain complexes I and III are the principal sites of ROS production, and oxidative modifications to the complex subunits inhibit their in vitro activity. Therefore, we hypothesize that mitochondrial complex subunits may be primary targets for oxidative damage by ROS which may impair normal complex activity by altering their structure/function leading to mitochondrial dysfunction associated with aging. This study of ...

The inner membrane of the mitochondrion folds inwards, forming the cristae. This folding allows a greater amount of membrane to be packed into the mitochondrion. The data in this study demonstrate that subunits e and g of the mitochondrial ATP synthase are involved in generating mitochondrial cristae morphology. These two subunits are non-essential components of ATP synthase and are required for the dimerization and oligomerization of ATP synthase. Mitochondria of yeast cells deficient in either subunits e or g were found to have numerous digitations and onion-like structures that correspond to an uncontrolled biogenesis and/or folding of the inner mitochondrial membrane. The present data show that there is a link between dimerization of the mitochondrial ATP synthase and cristae morphology. A model is proposed of the assembly of ATP synthase dimers, taking into account the oligomerization of the yeast enzyme and earlier data on the ultrastructure of mitochondrial cristae, which suggests that ...

The NM_002693.2:c.2799T,G (NP_002684.1:p.Ser933Arg) [GRCH38: NC_000015.10:g.89320948A,C] variant in POLG gene is interpretated to be a Likely Pathogenic based on ACMG guidelines (PMID: 25741868). This variant meets the following evidence codes reported in the ACMG-guideline. PM1:This variant is in mutational hot spot or a well-studied functional domain without benign variation. PM2:This variant is absent in key population databases. PM3:Detected in trans with a pathogenic variant for Mitochondrial DNA depletion syndrome 4A (Alpers type) which is a recessive disorder. PP1:This variant is co-segregated with Mitochondrial DNA depletion syndrome 4A (Alpers type) in multiple affected family members. PP2:This is a missense variant in POLG with a low rate of benign and high rate of pathogenic missense variations. PP3:Computational evidence/predictors indicate the variant has deleterious effect on POLG structure, function, or protein-protein interaction. PP4:Patient's phenotype or family history is ...

Voluntary health organizations active in the prevention or treatment of diseases or conditions that affect the nerves, muscles or bones. Use this code for organizations that focus on a wide variety of nerve, muscle and bone diseases or those not specified below. The related medical specialty is orthopedic surgery.. Key words: ALS; Amyotrophic Lateral Sclerosis; Arnold Chiari Syndrome; Arthrogryposis; Atrophic Muscular Disorders; Autonomic Nervous System Diseases; Batten Disease; Bell Palsy; Bell's Palsy; Bone Diseases; Bursitis; Cartilage Diseases; Central Nervous System Diseases; Chronic Fatigue Syndrome; Chronobiology Disorders; Circadian Rhythm Sleep Disorders; Connective Tissue Diseases; De Quervain Disease; Dysautonomia; dystonia; Fibromyalgia; Guillain-Barre Syndrome; Hemiplegia; Jet Lag Syndrome; Joint Diseases; Lou Gehrig Disease; Miller Fisher Syndrome; Mitochondrial Myopathies; MS; Multiple Sclerosis; Muscular Diseases; Muscular Dystrophy;Muscle Diseases; Musculoskeletal & Connective ...

Common Muscular Disorders of the Body. 1. Atony. 2. Sprain and Strain. 3. Muscle Cramp. 4. Muscle Atrophy. 5. Foot Drop. 6. Myositis. 7. Muscular Dystrophy. 8. Fibrositis. 9. Muscle Fatigue. 10. Muscle s. 11. Spasm. 12. Cerebral Palsy. 13. Fibrodysplasia Ossificans Progressiva. 14. Dermatomyositis. 15. Compartment Syndrome. 16. Myasthenia Gravis. 17. Amyotrophic Lateral Sclerosis(Lou Gehrig's Disease). 18. Mitochondrial Myopathies. 19. Rhabdomyolysis. 20. Polymyositis. 21. Fibromyalgia. 22. Myotonia. 23. Myofascial Pain Syndrome. 24. Rotator Cuff Tear. 25. Talipes (Flat Feet). 26. Tendonitis. 27. Carpal Tunnel Syndrome. 28. Lupus Erythematosis. 29. Multiple Sclerosis. 30. Myoglobinuria ...

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6, also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6, is related to rapadilino syndrome and baller-gerold syndrome, and has symptoms including myalgia, muscle cramp and facial paresis. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 is DNA2 (DNA Replication Helicase/Nuclease 2), and among its related pathways/superpathways is Cytosolic iron-sulfur cluster assembly. Related phenotypes are progressive external ophthalmoplegia and limb-girdle muscle weakness ...

Candida albicans rash treatment iyeastcure. Candida albicans rash treatment candida yeast contamination rash with inner ear contamination natural remedies and candida skin infection remedy discover data and.. Diaper dermatitis (candidiasis) in an little one or a infant. Diaper dermatitis (candidiasis) candida albicans is a type of fungus usually determined within the digestive treatments your doctor may prescribe.. Candida albicans treatments signs and symptoms of yeast infection in. Candida albicans remedies home remedy for candida oral yeast contamination with yeast infection in mouth symptoms remedy and candida therapy cookbook recipes find out.. Killed candida albicans hyphae natural treatment for throat. Killed candida albicans hyphae s www bing com search q yeast infection with will baking soda dispose of a yeast infection and doylestown health facility cafeteria.. Candida contamination of the pores and skin medlineplus clinical. The fungus that most customarily reasons cutaneous ...

NOTOC__ {{Infobox_Disease , Name = Purine nucleoside phosphorylase deficiency , Image = , Caption = , DiseasesDB = 11044 , ICD10 = {{ICD10,D,81,5,d,80}} , ICD9 = {{ICD9,277.2}} , ICDO = , OMIM = 164050 , MedlinePlus = , MeshID = , }} {{SI}} {{CMG}} {{SK}} PNP-deficiency ==Overview== '''Purine nucleoside phosphorylase deficiency''', often called '''PNP-deficiency''', is a rare congenital [[immunodeficiency]] of [[purine nucleoside phosphorylase]]. This enzyme is important in the purine degradation pathway. A deficiency of it causes [[T-cell]] immunodeficiency. It is also often associated with neurological disorders such as [[mental retardation]]. This [[autosomal recessive]] [[metabolic disorder]] results in [[severe combined immunodeficiency]]. ==Historical Perspective== ==Classification== ==Pathophysiology== The disorder is caused by a disruption of the [[purine nucleoside phosphorylase]], a key enzyme in the purine salvage pathway. This enzyme is required for [[purine]] degradation. ...

TY - JOUR. T1 - Microsporidia interact with host cell mitochondria via voltage-dependent anion channels using sporoplasm surface protein 1. AU - Han, Bing. AU - Ma, Yanfen. AU - Tu, Vincent. AU - Tomita, Tadakimi. AU - Mayoral, Joshua. AU - Williams, Tere. AU - Horta, Aline. AU - Huang, Huan. AU - Weissa, Louis M.. PY - 2019/1/1. Y1 - 2019/1/1. N2 - Microsporidia are opportunistic intracellular pathogens that can infect a wide variety of hosts ranging from invertebrates to vertebrates. During invasion, the microsporidian polar tube pushes into the host cell, creating a protective microenvironment, the invasion synapse, into which the sporoplasm extrudes. Within the synapse, the sporoplasm then invades the host cell, forming a parasitophorous vacuole (PV). Using a proteomic approach, we identified Encephalitozoon hellem sporoplasm surface protein 1 (EhSSP1), which localized to the surface of extruded sporoplasms. EhSSP1 was also found to interact with polar tube protein 4 (PTP4). Recombinant ...

A large Swedish family with members affected by progressive external ophthalmoplegia with hypogonadism were followed-up and reviewed. Hypogonadism included delayed sexual maturation, primary amenorrhea, early menopause, and testicular atrophy. Cataracts, cerebellar ataxia, neuropathy, hypoacusia, pes cavus, tremor, parkinsonism, depression, and mental retardation were other features observed in this family. Muscle biopsy samples of advanced cases showed ragged-red fibers, focal cytochrome c oxidase deficiency, and multiple mtDNA deletions by Southern blot analysis. An autosomal dominant mode of inheritance was evident with anticipation in successive generations. Linkage analysis excluded the chromosome 10q23.3-q24.3 region reported as being linked to the disease in a Finnish family with autosomal dominant progressive external ophthalmoplegia. We report for the first time clinical evidence for anticipation in a family with autosomal dominant progressive external ophthalmoplegia. We hypothesize ...

OBJECTIVE To observe the impairing effects of triptolide on liver mitochondria in isolated rat-liver mitochondria and human normal liver HL7702 cell line. METHODS Rat-liver mitochondria were isolated from adult female Sprague-Dawley (SD) rats. Liver mitochondria were incubated with 0, 1.25, 2.5, 5 and 10 μmol/L triptolide for detecting mitochondrial swelling and with 0, 2.5, 5 and 10 μmol/L triptolide for mitochondrial permeability transition pore (MPTP) activity. Mitochondrial swelling was estimated by measuring the apparent absorbance change during 600 s in the mitochondrial suspensions at 520 nm with a mitochondrial swelling examining kit. The effect of triptolide on MPTP was determined with a fluorescence detection kit by detecting the fluorescence intensity at an excitation wavelength of 488 nm emitted at 527 nm. Human normal liver HL7702 cells were treated without or with 0.02, 0.1 and 0.5 μmol/L triptolide for 24 h for analyzing mitochondrial transmembrane potential (Δψm) and reactive

For the past number of years, academic entrepreneurship has become one of the most widely studied topics in the entrepreneurship literature. Yet, despite all the research that has been conducted to date, there has not been a systematic attempt to analyze critically the factors which lie behind successful business spin-offs from university research. In this book, a group of academic thought-leaders in the field of technology transfer examine a number of areas critical to the promotion of start-ups on campus. Through a series of case studies, they examine current policies, structures, program initiatives and practices of fourteen international universities to develop a theory of successful academic entrepreneurship, with the aim of helping other universities to enhance the quality of their university transfer programs. This book is a valuable resource for university research administrators, technology transfer office professionals, academic entrepreneurs, incubator management officials, R&D ...

UniProtKB/Swiss-Prot : 73 Mitochondrial complex I deficiency, nuclear type 18: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN18 transmission pattern is consistent with autosomal recessive inheritance ...

Richard Frye, M.D., Ph.D. is the Director of Autism Research and Associate Professor of Pediatrics at The University of Arkansas for Medical Sciences. He specializes in pediatric neurology disorders, including learning disabilities and dyslexia, autism and developmental delay, speech and language delay, attention deficit, tics and Tourette's syndrome, sleep disorders, and epileptic encephalopathy. Dr. Frye is board certified in General Pediatrics and in Neurology with special competency in Child Neurology. He has also completed Fellowships in Behavioral Neurology and Psychology. Dr. Frye has been funded by the National Institutes of Health to study brain reorganization in individuals with neurodevelopmental disorders and currently has grants to study mitochondrial disease in autism and the metabolic effects of tetrahydrobiopterin treatment in children with neurodevelopmental disorders.. ...

TY - JOUR. T1 - Economic growth and the incidence of occupational injuries in Austria. AU - Barth, Alfred. AU - Winker, Robert. AU - Ponocny-Seliger, Elisabeth. AU - Sögner, Leopold. PY - 2007/4. Y1 - 2007/4. N2 - OBJECTIVES: The aim of this paper was to analyze the impact of economic growth measured by real gross domestic product (GDP) on the incidence of occupational injuries in Austria. METHODS: The relationship between GDP and the occupational injury rate of the wage-earning population between 1955 and 2004 was analyzed using an error correction model. The sample size increased from 1.568,371 persons in 1955 to 2.656,952 in 2004. Occupational injuries were divided into fatal and non-fatal injuries. RESULTS: Occupational injuries (fatal and non-fatal) decreased from 8.59% to 4.08%: non-fatal injuries decreased from 8.56% to 4.07%; fatal injuries decreased from 0.03% to 0.01%. Austrian GDP increased from EUR 37.7 billion to EUR 202.8 billion (base year 1995). Statistical analysis clearly ...

Mitochondrial Permeability Transition (MPT) is reported as the mechanism of acetaminophen induced hepatic damage, however, rat models are resistant to acetaminophen induced toxicity. The occurrence and degree of mitochondrial permeability transition after treatment with 400 mg kgG1 of acetaminophen in albino Wistar rats were assessed. Animals were randomly distributed into seven groups; control, 12, 24, 36, 48, 60 and 72 h based on varying time (in hour) post acetaminophen prior to sacrifice after treatment. Mitochondrial Membrane Permeability Transition (MMPT) pore opening and mitochondrial cytochrome c release were estimated. Opening of MMPT pore and cytochrome c release were observed in 12, 24, 36 and 72 h, when compared with the control group. Liver function and histological results indicated no liver damage. It is concluded that toxic dose of acetaminophen induced mitochondrial permeability transition in rat hepatic tissues without leading to necrotic damage suggesting that rat hepatic ...

Looking for online definition of adenine nucleotide translocator 1 in the Medical Dictionary? adenine nucleotide translocator 1 explanation free. What is adenine nucleotide translocator 1? Meaning of adenine nucleotide translocator 1 medical term. What does adenine nucleotide translocator 1 mean?

BackgroundThe mitochondrial DNA depletion syndrome is an autosomal recessive disorder of infancy or childhood characterized by decreased mitochondrial DNA copy

TY - JOUR. T1 - The peripheral benzodiazepine receptor modulates Ca2+ transport through the VDAC in rat heart mitochondria. AU - Tamse, C. T.. AU - Lu, X.. AU - Mortel, E. G.. AU - Cabrales, E.. AU - Feng, W.. AU - Schaefer, Saul. PY - 2008. Y1 - 2008. N2 - The voltage-dependent anion channel (VDAC) is a key mitochondrial protein involved in the transport of calcium. Its function is, in part, regulated by associated proteins such as the 18 kD peripheral benzodiazepine receptor (PBR). We tested the hypothesis that an endogenous ligand of the PBR, hemin, could modulate calcium transport by modifying VDAC conductance. In isolated rat cardiac mitochondria, hemin (0-10 μM) exhibited multiple, time-dependent effects. Initially, hemin reduced the calcium uptake rate in a dose-dependent manner, an effect independent of the mitochondrial permeability transition (MPT) as it was not altered by cyclosporine A (CsA). However, subsequent to this inhibitory effect on calcium influx, hemin facilitated MPT as ...

Issuu is a digital publishing platform that makes it simple to publish magazines, catalogs, newspapers, books, and more online. Easily share your publications and get them in front of Issuu's millions of monthly readers. Title: Complexity Science and Social Entrepreneurship - Adding Social Value through Systems Thinking, Author: Giorgio Bertini, Name: Complexity Science and Social Entrepreneurship - Adding Social Value through Systems Thinking, Length: 77 pages, Page: 1, Published: 2011-12-14

International Journal of Research Publication (IJRP) is a quality publication of peer reviewed and refereed international journals from diverse fields in sciences, engineering and technologies that emphasizes new research, development and their applications.International Journal of Research Publication (IJRP) is a quality publication of peer reviewed and refereed international journals from diverse fields in sciences, engineering and technologies that IJRP, International Journal of Research Publications publish monthly journal

Death and Dying Sourcebook: Basic Consumer Health Information for the Layperson About End-of-Life Care and Related Ethical and Legal Issues, Including Chief Causes of Death, Autopsies, Pain Management for the Terminally Ill, Life Support Systems, Insurance, Euthanasia, Assisted Suicide, Hospice Programs, Living Wills, Funeral Planning, Counseling, Mourning, Organ Donation, and Physician Training; Along With Statistical Data, a Glossary, and Listings of Sources for Further Help And ...

The principal objective of the study is to assess the extent to which agricultural productivity and climate change impact affect smallholder farmers' entrepreneurship in Western and Central Regions of Liberia. The specific objectives are: to determine the impact of agricultural inputs on production of major food crops:rice, cassava and vegetables (pepper, egg plants and bitter balls); to investigate the level of climate change impact on agricultural productivity for major food crops (rice, cassava, and vegetables); to determine agricultural produce, income and business activities of smallholder farmers (during and after harvest); to determine as to whether other competing sectors such as mining, informal business activities, rural-urban migration are hindering the growth of and affecting the progress of the farming population; and to analyze access to credit and the availability of modern post-harvest technology. In order to achieve the research objectives, the researcher worked with Government ...

Muscle disease: neuromuscular disorders and myopathies. The neuromuscular disease center of the Washington University School of Medicine, St. Louis, Missouri, USA is providing a lot of information about myopathies and neuromuscular disorders with a fascinating differential diagnosis index for myopathic and neuromuscular junction disorders like for example myasthenic syndromes, myopathies, malignant hyperthermia and a differential diagnosis of rhabdomyolysis and myoglobinuria.. The U.S. muscle dystrophy association has a web-page that may be very helpful for patients to obtain information on muscle disease and anesthesia. In addition, this site provides a lot of information for patients suffering from this disease.. Pedsanesthesia has information on the congenital myopathies and anesthesia.. Other useful links: mitochondrial disease and anesthesia (PDF), from the United Mitochondrial Disease Foundation, also great e-medicine paper on myopathies, .. ...

By Daniel Mpala. From gaining traction, publicity to getting new clients, the inaugural edition of South Africa's EDHE National Entrepreneurship Intervarsity competition finals have given some of the winners a boost with their respective businesses.. Last month, four student entrepreneurs Musa Maluleka, Penang Shirindza, Denislav Marinov and Mvelo Hlope emerged the winners of the inaugural edition of the national competition.. The competition is held by the Entrepreneurship Development in Higher Education (EDHE), an initiative of the Department of Higher Education and Training, and Universities South Africa (Usaf).. The competition, which is supported by Allan Gray Orbis Foundation, SAB Foundation and the Small Enterprise Development Agency (Seda), identifies, recognises and supports student entrepreneurship at public universities in South Africa.. In addition to identifying the top student entrepreneurs at each university, the competition also aims to showcase their businesses and invite ...

Chronic Progressive External Ophthalmoplegia(CPEO): A not so rare mitochondrial myopathy-PJMS-Print ISSN No:-2249-8176 Online ISSN No:-2348-7682Article DOI No:-10.18231,Panacea Journal of Medical Sciences-IP Innovative Publication Pvt Limited, Medical Journals Publication, Open Access Journals, Print Journals,Indian

Definition of chronic progressive external ophthalmoplegia. Provided by Stedman's medical dictionary and Drugs.com. Includes medical terms and definitions.

We characterized ED patients' pre-visit Internet search terms using a qualitative approach and looked at the relationship between these search terms and the patients' final diagnoses. We found the majority of patients searched online for symptoms rather than for specific diagnoses. Previous studies using web-analytics of Internet queries similarly noted that the majority of searches focused on symptoms.11 However, in contrast to studies in other settings, in this sample of ED patients very few searches focused on treatment. For example, in a sample of orthopedic patients 21% sought information about treatment, and in a sample of melanoma patients 96% sought information about treatment.12,13 The higher ratio of treatment-related searches in the outpatient clinic and specialty context contrasts with our ED data. However, our report is unique in illuminating the frequency and nature of Internet search strategies that may serve as the genesis of the decision to seek unscheduled ED care. ...