Scientists have identified a gene underlying a disease that causes temporary paralysis of skeletal muscle. The finding, they say, illustrates how investigations of rare genetic diseases can drive insights into more common ones. The finding is reported in the January 8, 2010 issue of the journal Cell. The disease, known as thyrotoxic hypokalemic periodic paralysis, causes acute attacks of weakness in muscles that control movement. Symptoms range from difficulty grasping objects or rising from a lying position to incapacitating weakness of the body that prevents movement. The condition lasts from hours to days. Scientists have known that TPP occurs when certain people with an overactive thyroid are exposed to environmental stresses, such as resting of the muscles after exercise, stress, or low potassium levels in blood after eating a large carbohydrate meal.
'Potential Benefits of Intermittent Androgen Suppression Therapy in the Treatment of Prostate Cancer: A Systematic Review of the Literature' is the title of an article by P-A. Abrahamsson in the January issue of European Urology, the official journal of the European Association of Urology. The author evaluates available evidence regarding the efficacy and tolerability of intermittent androgen deprivation (IAD) and assess its value in the treatment of prostate cancer (PCa). Prostate cancer (PCa) is the second most common male cancer worldwide and the most frequently occurring in Europe (20.3% of the total in 2006). Androgen-deprivation therapy (ADT) has progressed since 1941 when surgical castration was shown to improve PCa outcomes.
European Medicines Agency's COMP Adopts Positive Opinion For The Orphan Drug Designation For Protalix's Taliglucerase Alfa
Protalix BioTherapeutics, Inc. (NYSE-Amex: PLX), announced that the Committee for Orphan Medicinal Products (COMP) of the European Medicines Agency (EMEA), after reviewing all relevant clinical data, has recommended that the European Commission grant orphan drug designation to taliglucerase alfa, the Company's proprietary plant cell expressed recombinant form of glucocerebrosidase for the treatment of Gaucher disease. The U.S. Food and Drug Administration (FDA) granted orphan drug designation and fast track designation to taliglucerase alfa in 2009. Orphan drug designation in Europe is granted to medicinal products intended for the diagnosis, prevention and treatment of life-threatening diseases and very serious conditions that affect not more than five in 10, 000 people in the European Union.
Turner syndrome, also known as Turners syndrome, Ullrich-Turner syndrome or Gonadal dysgenesis, is a chromosomal disorder that affects only females. It is characterized by the absence of part or all of a second sex chromosome in some or all cells. Approximately 1 in every 2, 500 to 3, 000 girls is born with the condition. People without Turner syndrome have 46 chromosomes, of which 2 are sex chromosomes. Females have two X chromosomes. In people with Turner syndrome, one of those sex chromosomes is either missing or has other abnormalities - the chromosome may be missing in some cells but not in others (mosaicism or Turner mosaicism).
Beginning in the year 2016, The Endocrine Society's Annual Meeting & Expo, will move from June to the month of March. This change, approved today by the Society's governing Council, was sparked by ongoing feedback from membership as well as a Society-wide survey. "Hosting the meeting in March will expand the amount of scientific and clinical content to be presented, " said Robert A. Vigersky, MD, president of The Endocrine Society. "It will also generate greater opportunity for endocrinologists and industry representatives from across the world to attend and participate." First held in 1916, ENDO continues to be the Society's premiere annual event offering attendees an unparalleled opportunity to learn about the latest advances in endocrine research and clinical care.
Scientists of Helmholtz Zentrum Munchen led by Professor Karsten Suhre have identified new gene variants associated with disturbances in the lipid metabolism. Some of these common human gene variants are already known to be risk factors for diabetes mellitus. The pathomechanisms of diabetes have intrigued physicians and been the subject of much debate for many decades. These new research results may contribute to a better understanding of the clinical picture of diabetes and its pathogenesis and could lead to new approaches in early diagnosis and therapy. The findings have been published in the current online issue of the renowned journal Nature Genetics.