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Paroxysmal dyskinesias are episodic movement disorders that can be inherited or are sporadic in nature. The pathophysiology underlying these disorders remains largely unknown but may involve disrupted ion homeostasis due to defects in cell-surface channels or nutrient transporters. In this study, we describe a family with paroxysmal exertion-induced dyskinesia (PED) over 3 generations. Their PED was accompanied by epilepsy, mild developmental delay, reduced CSF glucose levels, hemolytic anemia with echinocytosis, and altered erythrocyte ion concentrations. Using a candidate gene approach, we identified a causative deletion of 4 highly conserved amino acids (Q282_S285del) in the pore region of the glucose transporter 1 (GLUT1). Functional studies in Xenopus oocytes and human erythrocytes revealed that this mutation decreased glucose transport and caused a cation leak that alters intracellular concentrations of sodium, potassium, and calcium. We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability. Combining these data with brain imaging studies, we propose that the dyskinesias result from an exertion-induced energy deficit that may cause episodic dysfunction of the basal ganglia, and that the hemolysis with echinocytosis may result from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1., Introduction Paroxysmal dyskinesias (PDs) are characterized by involuntary movements triggered by certain stimuli such as sudden movement or prolonged exercise. They are classified into paroxysmal kinesigenic dyskinesia (PKD or PKC [...]

Objective: Energy drinks (EDs) target young and active individuals and they are being marketed as enhancers of energy, concentration, and physical and cognitive performance. Their long-term consumption raises serious health concerns related to cardiovascular events. Here we investigate the effects of long-term Red Bull® consumption and its combination with alcohol on certain biochemical parameters and the ultrastructure of the myocardium. Methods: Male Wistar rats were categorized into four groups and given different treatments via oral administration. The Control (C) group received tap water, the Red Bull (RB) group received 1.5 ml/100 g body weight of Red Bull, the ethanol group (E) received 0.486 mg/100 g body weight of ethanol, and the Red Bull and ethanol (RBE) received a combination of the two beverages for 30 days. In the last 6 days of the experiment, the animals were tested for their physical performance by conducting a weight-loaded forced swim test. Immediately after swimming exhaustion, the animals were sacrificed under anesthesia and samples of the heart muscle were harvested for ultrastructural and biochemical analyses. Results: Our results showed a significant increase in the heart glucose and glycogen concentrations in the RB and RBE groups. Total cholesterol concentration significantly decreased in the RBE and RB groups. Total protein concentration and ALT and AST activities increased in all groups. The biochemical changes were accompanied by ultrastructural alterations. Conclusion: Based on these results, we recommend that athletes and active persons should avoid the long-term consumption of the Red Bull ED and, particularly, its combination with alcohol. [ABSTRACT FROM AUTHOR]

In the past few years, Red Bull rapidly became a popular energy drink and this increase in popularity is the result of targeted advertising. The effects of short term consumption of Red Bull are known and they are beneficial, however the effects of chronic consumption may lead to serious health conditions. The purpose of the study presented in this work is to investigate if long term consumption of Red Bull affects the physiological and functional integrity of the skeletal muscles. The study was conducted on 28 albino male Wistar rats, weighing 182.11±4.7 g, divided into four groups. The Control (C) group received a standard diet and tap water. The Red Bull/Ethanol (RB+E) group were orally administrated 1.5 ml/100 g b.wt. of Red Bull and 0.6 ml/100 g b.wt. of ethanol daily, for 30 days. The same concentrations were administered to the groups that received the individual drinks. In the last six days of the experiment the animals were tested for physical performance using a weight-loaded forced swim test. After 30 days of treatment, immediately after exhaustion, the animals were killed under anesthesia and samples from the gastrocnemius muscle were harvested for biochemical parameters analysis and enzymatic activity assays. A significant decrease in glucose and glycogen concentration was registered in E and RB+E groups. Total protein concentration as well as AST and LDH activities remained unchanged in all groups. According to these results we can say that long term consumption of Red Bull energy drink, especially when combined with alcohol, may lead to significant changes in biochemical parameters strictly related to the carbohydrate metabolism. Red Bull and ethanol did not affect the physiological integrity of the skeletal muscle, although a transition probably occurred from type 2 (glycolytic, fast twitch) to type 1 (oxidative, slow-twitch) muscle fibers. [ABSTRACT FROM AUTHOR]

The worldwide consumption of energy drinks has grown globally during the last few decades among athletes and youth, because of their stimulant properties. Although these beverages are consumed in order to improve concentration, physical and cognitive performance, there is insufficient evidence or studies to confirm these claims. The aim of our study was to investigate if acute administration of Red Bull energy drink influences certain biochemical parameters of the blood as well as blood pressure and heart rate, under physical activity in trained and untrained healthy males. Thirteen healthy voluntary males between the ages 20-25 years participated in this study. They were organized in two groups: trained and untrained. Blood samples were drawn and certain hemodynamic parameters were measured before and after physical activity/Red Bull administration. Anthropometrical measurements were also determined. A significant increase of blood pressure and heart rate were noticed after Red Bull administration in all subjects, while the glucose concentration decreased. The concentration of total protein increased significantly after Red Bull administration, as did the activities of serum LDH, AST and ALT. These results indicate that acute consumption of energy drinks can affect biochemical blood parameters as well as the hemodynamic parameters. [ABSTRACT FROM AUTHOR]

Energy drinks are commercial drinks conceived in order to improve physical and intellectual performance. Short term effects of energy drinks are known and do not seem to affect the state of health, but long term effects are less known and raise serious health questions. In this work we investigated if Red Bull affects morphologic and some of the biochemical parameters of the blood. Twenty adult Wistar rats, weighing 186.6±3.15 g were organized into two groups. The Control (C) group received a standard diet and tap water. The animals in the energy drink (ED) group were orally administrated 1.5 ml/100 g b.wt. of Red Bull daily, for 4 weeks. After 4 weeks of treatment, the rats were killed by exsanguination and blood samples were collected for morphologic and biochemical parameter analysis. A significant reduction in red blood cell count was noticed in the ED group, while the hemoglobin concentration and the hematocrit slightly increased in the experimental group, as compared to the control. The concentrations of glucose and total cholesterol increased significantly after Red Bull administration, as did the activities of serum LDH, AST and ALT. These results indicate that a long-term consumption of energy drinks can affect certain morphological and biochemical blood parameters. Furthermore, these drinks may be risk factors for the development of a metabolic disease. [ABSTRACT FROM AUTHOR]

Osteoporosis is a condition resulting in an increased risk of skeletal fractures due to a reduction of bone-mass and micro-architectural deterioration of the tissue. Aside from postmenopausal osteoporosis, the most common secondary cause of this disease is that due to the long-term use of oral glucocorticoids. The present study was designed to illustrate the benefit of physical activity, an inexpensive and accessible treatment, in the amelioration of osteoporosis symptoms. Adult female Wistar rats received a daily dose of methylprednisone for 30 days. One of the glucocorticoidtreated groups, and one of the control groups, were subjected to physical training (1 hour swimming) on a daily base. Haematological parameters related to bone marrow function, Ca and P content in serum and cortical thigh-bone were assessed. The results confirmed the beneficial role of physical exercise in preventing the onset of osteoporosis, and/or in ameliorating its symptoms. [ABSTRACT FROM AUTHOR]

Trigonella foenum-graecum (fenugreek) seeds are widely used as a flavour in the oriental cuisine, and also as a nutritional supplement with hypoglycemiant action, of a high interest in the treatment of type II diabetes. Ganoderma lucidum (the lingzhi or reishi mushroom) has been used for centuries in the oriental herbal medicine, because of its anti-tumor, immunomodulatory, cholesterol- and blood sugarlowering properties. We report here certain preliminary data of a comparative ultrastructural study in which rats were made diabetic with alloxan or streptozotocin, and subsequently treated with fenugreek or ganoderma flour. Adult male Wistar rats, weighing 200±20 g, were made diabetic with i.p. injection of a single dose of alloxan (200 mg/kg body weight, in PBS) or streptozotocin (170 mg/kg body weight, in sodium citrate 10 mM). 30 min. after the diabetogenic agent, the animals received i.p. 1 ml of a 33% glucose saline solution, to avoid hypoglycemic shock. Animals were checked for blood glucose concentration in the third and fifth day after injection. Only rats with a glycemia > 200 mg/dL were considered diabetic and were included in the experiment. Animals were organized in six groups; the control (C), untreated group, the alloxan-diabetic (AD) group, and the streptozotocin-diabetic group (SD) received a standard diet and water ad libitum. Other three groups received the standard diet supplemented with fenugreek or ganoderma flour, as follows: AD-T5 and AD-T10 groups had 5% and 10%, respectively fenugreek seed flour in the fodder, while AD-G group had 1‰ ganoderma flour in the fodder. After 30 days, the animals were sacrificed and pancreas samples were taken for ultrastructural examination. In the beta cells of alloxan-diabetic rats, we noticed only few secretory granules, most of which were empty, as the synthesis of proinsulin and insulin was inhibited. Other cells had numerous vacuolization areas in the cytoplasm, with almost no insulin granules; the nuclei were irregular in shape and had a dilated perinuclear space. Some cells showed electrondense cytoplasm and a hyperchromatic nucleus, which suggest a low metabolic activity. Streptozotocin-induced diabetes produced severe alteration of beta cells, with vacuolization and lysis of the entire cytoplasm and the absence of insulin granules. Pancreatic islets showed advanced fibrosis which originated in the surrounding capsule, with collagen fascicles that intruded among cells, isolating and, in some areas, destroying them. There was a massive lipid droplets proliferation, probably due to the progressive transformation in fat cells of some fibroblasts that migrated inside the islets. In the AD-T5 group, we noted a more than moderate protection of fenugreek against the alloxan-induced beta cell destruction. Active Golgi complexes were noticed. However, some cells were entirely electrondense and had hyperchromatic nuclei. The protective action of fenugreek was even more evident in the pancreas of AD-T10 rats. Numerous granules, both mature and immature, were seen in the cytoplasm of beta cells. The destructive effect of alloxan was still present, as dilations of GER and of the perinuclear space, and some nuclei with irregular outline or abnormal shape. In the pancreatic islets of ganoderma-treated AD rats, most of the cells had an ultrastructure close to the one in the control animals. Cells had numerous insulin granules in the cytoplasm; GER, mitochondria and the Golgi complex were active and with a normal shape. There were no collagen infiltrations or lipid droplet proliferation. Alloxan was less efficient than expected in inducing experimental diabetes, while streptozotocin destroyed most of the beta cells and stopped insulin secretion. The highest protective effect against structural alteration of cells in AD rats was produced by treatments with 10% fenugreek and ganoderma. [ABSTRACT FROM AUTHOR]