Mutations to the V-ATPase 'a4' or 'B1' isoforms result in distal renal tubular acidosis, a condition that leads to metabolic acidosis, in some cases with sensorineural deafness.
Alpers' disease is caused by an underlying mitochondrial metabolic defect of POLG,.
Together with his colleagues from the Department of Endocrinology, Diabetes, and Metabolic Disease at University Medical Centre Ljubljana, Janež co-authored the algorithm used in insulin pump treatment, as well as tutored virtually all Slovenian diabetologists in usage of both insulin pump and glucose sensor.
Metabolic changes of the crystalline lens fibers over time lead to the development of the cataract and loss of transparency, causing impairment or loss of vision.
Cellular respiration, metabolic reactions and processes that take place in the cells of organisms
Other common causes include metabolic bone diseases (e.g. Paget's disease of bone), post Perthes deformity, osteomyelitis, and post traumatic (due to improper healing of a fracture between the greater and lesser trochanter).
His first employment within Psychology was as a postdoc at the Yale University Graduate School in 1964-6, initiating work on metabolic biochemistry and neuropharmacology in the laboratories of Neal E. Miller on his funds from NIH.
Typical factors causing developmental toxicity are radiation, infections (e.g. rubella), maternal metabolic imbalances (e.g. alcoholism, diabetes, folic acid deficiency), drugs (e.g. anticancer drugs, tetracyclines, many hormones, thalidomide), and environmental chemicals (e.g. mercury, lead, dioxins, PBDEs, HBCD, tobacco smoke).
The concept that capillary blood, obtained from pricking the heel or finger and blotted onto filter paper, could be used to screen for metabolic diseases in large populations of neonates was introduced in Scotland by Robert Guthrie in 1963.
The smooth ER of theses specialized cells function in diverse metabolic processes, including synthesis of lipids, metabolism of carbohydrates, and detoxification of drugs and poisons.
Some metabolic and nutritional studies carried out on rats and mice at Hokkaido University indicate that fucoxanthin promotes fat burning within fat cells in white adipose tissue by increasing the expression of thermogenin.
Gap junctions are conduits that allow the direct cell-to-cell passage of small cytoplasmic molecules, including ions, metabolic intermediates, and second messengers, and thereby mediate intercellular metabolic and electrical communication.
In 1962, Italian geneticist Ferruccio Ritossa reported that heat and the metabolic uncoupler 2,4-dinitrophenol induced a characteristic pattern of puffing in the chromosomes of Drosophila.
She trained as a scientist and teacher in the 1960s (BSc, DipEd, University of New England and has a PhD in metabolic biochemistry (UNE, 1972).
Following a fellowship in biochemistry at the National Institute of Arthritis and Metabolic Diseases and a special research fellowship in biochemistry at the Max Planck Institute for Biochemistry in Munich, Dr. Bryant took a fellowship in hematology at Washington University in St. Louis.
The explosive diversification of the flowering plants in the Cretaceous was paralleled by a massive diversification of associated insects, and many of the morphological and metabolic characters that the flowering plants exhibit may have evolved as defenses against herbivorous insects.
Higher oxygen concentration (and accompanying higher atmospheric pressure) enabled energetic metabolic processes which encouraged evolution of large land-dwelling vertebrates and flight, with the dragonfly-like Meganeura, an aerial predator, with a wingspan of 60 to 75 cm.
Adolph Kussmaul, who introduced the term, referred to breathing when metabolic acidosis was sufficiently severe for the respiratory rate to be normal or reduced.
The acquired demyelinating disorders are classified according to their underlying causes into five groups: noninfectious–inflammatory, infectious–inflammatory, toxic–metabolic, hypoxic–ischemic (vascular problems like Binswanger's disease), and traumatic.
In 2006, Mario Crocco, a neurobiologist at the Neuropsychiatric Hospital Borda in Buenos Aires, Argentina, proposed the creation of a new nomenclatural rank that classified the Viking landers' results as 'metabolic' and therefore belonging to a form of life.
The oxidized metabolic products of linoleic acid, such as 9-hydroxyoctadecanoic acid and 13-hydroxyoctadecanoic acid, have also been shown to activate TRPV1, the capsaicin receptor, and through this might play a major role in hyperalgesia and allodynia.
The term "Organic Cause" also features in Obesity disorders, where for example "Regulatory Obesity" is a failure to regulate food intake but with no organic cause, whereas Metabolic Obesity involves an organic cause.
Dr. William B. Castle, discoverer of intrinsic factor, introduced him to Dr. Sidney H. Ingbar with whom Tishler began work on the metabolic actions of thyroid hormone.
He named the granules bioblasts, and explained them as the elementary living units, having metabolic and genetic autonomy, in his 1890 book Die Elementarorganismen (The Elementary Organism).
Dr. Brady and his colleagues identified the enzymatic defects in Gaucher disease (3.4), Niemann-Pick disease (5), Fabry disease (6) and the specific metabolic abnormality in Tay-Sachs disease (7,8).
A review in Nature Reviews Cardiology suggests that since illness or injury are associated with prolonged periods of enforced rest, such sedentariness has physiologically become linked to life-preserving metabolic and stress related responses such as inflammation that aid recovery during illness and injury but which due to being nonadaptive during health now lead to chronic diseases.
Henriksson, M. M. Chi, C. S. Hintz, D. A. Young, K. K. Kaiser, S. Salmons, and O. H. Lowry "Chronic stimulation of mammalian muscle: changes in enzymes of six metabolic pathways" American Journal of Physiology: Cell Physiology.
Fever, hyperventilation, diarrhea and severe infections can also cause tachycardia, primarily due to increase in metabolic demands.
She began her career as a nurse at Montefiore Hospital on its NIH-funded Metabolic Neoplastic Research Unit.