Diagnosed in toddlers, X-linked hypophosphatemia (XLH) is the most common form of heritable rickets, in which soft bones bend and deform, and tooth abscesses develop because infections penetrate soft teeth that are not properly calcified. Researchers at McGill University and the Federal University of Sao Paulo have identified that osteopontin, a major bone and tooth […]
New findings by Columbia researchers suggest that along with amyloid deposits, white matter hyperintensities (WMHs) may be a second necessary factor for the development of Alzheimer’s disease. Most current approaches to Alzheimer’s disease focus on the accumulation of amyloid plaque in the brain. The researchers at the Taub Institute for Research on Alzheimer’s Disease and […]
Researchers at the University of Wisconsin-Madison have found a new way to accelerate a workhorse instrument that identifies proteins. The high-speed technique could help diagnose cancer sooner and point to new drugs for treating a wide range of conditions. Proteins are essential building blocks of biology, used in muscle, brain, blood and hormones. If the […]
Psychogenic diseases, formerly known as ‘hysterical’ illnesses, can have many severe symptoms such as painful cramps or paralysis but without any physical explanation. However, new research from the University of Cambridge and UCL (University College London) suggests that individuals with psychogenic disease, that is to say physical illness that stems from emotional or mental stresses, […]
Researchers at Karolinska Institutet in Sweden have identified a new so-called pseudogene that regulates the tumour-suppressing PTEN gene. They hope that this pseudogene will be able to control PTEN to reverse the tumour process, make the cancer tumour more sensitive to chemotherapy and to prevent the development of resistance. The development of tumours coincides with […]
Foetal alcohol syndrome is the leading preventable cause of developmental disorders in developed countries. And foetal alcohol spectrum disorder (FASD), a range of alcohol-related birth defects that includes foetal alcohol syndrome, is thought to affect as many as 1 in 100 children born in the United States. Any amount of alcohol consumed by the mother […]
Unusually high calcium levels in the blood can almost always be traced to primary hyperparathyroidism, an under-treated, underreported condition that affects mainly women and the elderly, according to a new study by UCLA researchers. The condition, which results from overactive parathyroid glands and includes symptoms of bone loss, depression and fatigue that may go undetected […]
A JDRF-funded study out of Switzerland has shown that a single gene called SIRT1 may be involved in the development of type 1 diabetes (T1D) and other autoimmune diseases. The study represents the first demonstration of a mono-genetic defect leading to the onset of T1D. The research began when Marc Donath, M.D., endocrinologist and researcher […]
Researchers at Columbia University Medical Center (CUMC), with collaborators at the Albert Einstein College of Medicine of Yeshiva University, have discovered how the most common genetic mutations in familial Parkinson’s disease damage brain cells. The mutations block an intracellular system that normally prevents a protein called alpha-synuclein from reaching toxic levels in dopamine-producing neurons. The […]
Some of the dramatic differences seen among patients with schizophrenia may be explained by a single gene that regulates a group of other schizophrenia risk genes. The study revealed that people with schizophrenia who had a particular version of the microRNA-137 gene (or MIR137), tended to develop the illness at a younger age and had […]
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