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The girls underwent a six-week period for physical therapy and recovery. Maria and Teresa are now able to walk independently and are starting to form their own individual personalities. The girls were able to return to the Dominican Republic and often return to the United States for follow-up care.
The World Anti-Doping Agency (WADA) is the main regulatory organization looking into the issue of the detection of gene doping. Both direct and indirect testing methods are being researched by the organization. Directly detecting the use of gene therapy usually requires the discovery of recombinant proteins or gene insertion vectors, while most indirect methods involve examining the athlete in an attempt to detect bodily changes or structural differences between endogenous and recombinant proteins.
Indirect methods are by nature more subjective, as it becomes very difficult to determine which anomalies are proof of gene doping, and which are simply natural, though unusual, biological properties. For example, Eero Mäntyranta, an Olympic cross country skier, had a mutation which made his body produce abnormally high amounts of red blood cells. It would be very difficult to determine whether or not Mäntyranta's red blood cell levels were due to an innate genetic advantage, or an artificial one.
Cheating at the Paralympic Games has caused scandals that have significantly changed the way in which the International Paralympic Committee (IPC) manages the events.
Testing for performance-enhancing drugs has become increasingly strict and more widespread throughout the Games, with powerlifting seeing the most positive results. Competitors without disabilities have also competed in some Paralympic Games, with the Spanish entry in the intellectually disabled basketball tournament at the 2000 Summer Paralympics being the most controversial.
With a team of 45 surgeons, the separation surgery took approximately 20-hours. The separation process started on November 7, 2011 at 6 am. This was the first time that a surgery of the type was performed at the Children’s Hospital of Richmond. The surgical team divided the pancreas, the liver, as well the organ systems that the twin girls shared. Lastly, the surgical team rebuilt the abdominal walls of the twins.
Doping in Russian sports has a systemic nature. Russia has had 51 Olympic medals stripped for doping violations – the most of any country, four times the number of the runner-up, and more than a third of the global total. From 2011 to 2015, more than a thousand Russian competitors in various sports, including summer, winter, and Paralympic sports, benefited from a cover-up.
Because the black cherry tree is the preferred host tree for the eastern tent caterpillar, one approach to prevention is to simply remove the trees from the vicinity of horse farms, which was one of the very first recommendations made concerning MRLS. Next, because the brief time for which the full-grown ETCs are on the ground in the vicinity of pregnant mares, simply keeping pregnant mares out of contact with them is also an effective preventative mechanism. In this regard, one Kentucky horse farm took the approach of simply muzzling mares during an ETC exposure period, an approach which was reportedly effective.
No effective treatment for MRLS is apparent. Mares which aborted are treated with broad-spectrum antibiotics to avoid bacterial infections. The foals born from mares infected with MRLS are given supportive care and supplied with medication to reduce inflammatory response and improve blood flow, but none of the treatments appears to be effective, as the majority of the foals do not survive. Unilateral uveitis is treated symptomatically with antibiotics and anti-inflammatory drugs.
Modulating the levels of proteins that affect psychology are also potential goals for gene doping; for example pain perception depends on endorphins and enkephalins, response to stress depends on BDNF, and an increase in synthesis of monamines could improve the mood of athletes. Preproenkephalin has been administered via gene therapy using a replication-deficient herpes simplex virus, which targets nerves, to mice with results good enough to justify a Phase I clinical trial in people with terminal cancer with uncontrolled pain. Adopting that approach for athletes would be problematic since the pain deadening would likely be permanent.
VEGF has been tested in clinical trials to increase blood flow and has been considered as a potential gene doping agent; however long term follow up of the clinical trial subjects showed poor results. The same is true of fibroblast growth factor. Glucagon-like peptide-1 increases the amount of glucose in the liver and has been administered via gene therapy to the livers of mouse models of diabetes and was shown to increase gluconeogenesis' for athletes this would make more energy available and reduce the buildup of lactic acid.
Joseph Banda and Luka Banda (born January 23, 1997, in Lusaka, Zambia) are twin brothers who used to be conjoined. They were born joined at the back of the skull and faced in opposite directions. In 1997, Dr. Ben Carson led a team of 50 Zambian and South African specialists to separate the 11-month-old twins in a 22-hour operation. They did not share any organs, but shared intricate blood vessels that flowed into each other's brains. In 2001, the twins were fitted with artificial skulls to permanently close their heads, and are neurologically normal. In an interview, Dr. Carson stated about the operation:
They are residing in a low-cost/high-density area of Lusaka called Chilenje South.
The 2007 Tour de France was affected by a series of scandals and speculations related to doping. By the end of the Tour, two cyclists were dismissed for failing tests and the wearer of the yellow jersey was voluntarily retired by his team for lying about his whereabouts and missing doping tests. A fourth rider was confirmed to having used doping while in a training session prior to the 2007 Tour and a fifth rider failed tests late in the race, with his result being officially announced just after the end of the Tour. During the competition, two teams were asked to withdraw after at least one member was found to have doped.
The events generated criticism and a general distrustful attitude toward the sport of professional cycling from media and public opinion. The doping allegations also resulted in several team sponsors threatening to retire their support if events advanced further. Some media such as German TV channels ARD and ZDF left the Tour once the first scandals broke. Following the Tour's conclusion, the sport's governing bodies spoke out about ways to combat the prevalence of doping in cycling and key team sponsors elected to withdraw their support due to the reputational damage caused by the scandals. The 2007 Tour de France has been referred to as one of the most controversial Tours. After the end of the Tour, "The Times" of London ranked it 4th in its list of the top 50 sporting scandals.
The Lance Armstrong doping case was a doping investigation that led to American former professional road racing cyclist Lance Armstrong being stripped of his seven Tour de France titles and his eventual admission to the doping.
In sports where physical strength is favored, athletes have used anabolic steroids, known for their ability to increase physical strength and muscle mass. The drug mimics the effect of testosterone and dihydrotestosterone in the body. They were developed after Eastern Bloc countries demonstrated success in weightlifting during the 1940s. At the time they were using testosterone, which carried with it negative effects, anabolic steroids were developed as a solution. The drug has been used across a wide range of sports from football and basketball to weightlifting and track and field. While not as life-threatening as the drugs used in endurance sports, anabolic steroids have negative side effects, including:
For much of the second phase of his career, Cyclist Lance Armstrong faced constant allegations of doping. Armstrong consistently denied allegations of doping until a partial confession during a broadcast interview with Oprah Winfrey in January 2013.
Side effects in women include:
- hair loss
- male pattern baldness
- hypertrophy of the clitoris
- increased sex drive
- irregularities of the menstrual cycle
- development of masculine facial traits
- increased coarseness of the skin
- premature closure of the epiphysis
In countries where the use of these drugs is controlled, there is often a black market trade of smuggled or counterfeit drugs. The quality of these drugs may be poor and can cause health risks. In countries where anabolic steroids are strictly regulated, some have called for a regulatory relief. Steroids are available over-the-counter in some countries such as Thailand and Mexico.
States that agree to the Convention align their domestic rules with the World Anti-Doping Code, which is promulgated by the World Anti-Doping Agency. This includes facilitating doping controls and supporting national testing programmes; encouraging the establishment of "best practice" in the labelling, marketing, and distribution of products that might contain prohibited substances; withholding financial support from those who engage in or support doping; taking measures against manufacturing and trafficking; encouraging the establishment of codes of conduct for professions relating to sport and anti-doping; and funding education and research on drugs in sport.
Timed light exposure can be effective to help people match their circadian rhythms with the expected cycle at their destination; it requires strict adherence to timing. Light therapy is a popular method used by professional athletes to reduce jet lag. Special glasses, usually battery-driven, provide light to the eyes, thus inhibiting the production of melatonin in the brain. Timed correctly, the light may contribute to an advance or delay of the circadian phase to that which will be needed at the destination. The glasses may be used on the plane or even before users leave their departure city.
Timed melatonin administration may be effective in reducing jet lag symptoms. The benefit of using melatonin is likely to be greater for eastward flights than for westward ones because for most people it is easier to delay than to advance the circadian rhythm. There remain issues regarding the appropriate timing of melatonin use in addition to the legality of the substance in certain countries. How effective it may actually be is also questionable. For athletes, anti-doping agencies may prohibit or limit its use.
Timing of exercise and food consumption have also been suggested as remedies, though their applicability in humans and practicality for most travellers are not certain, and no firm guidelines exist. There are very little data supporting the use of diet to adjust to jet lag. While there are data supporting the use of exercise, the intensity of exercise that may be required is significant, and possibly difficult to maintain for non-athletes. These strategies may be used both before departure and after landing. Individuals may differ in their susceptibility to jet lag and in how quickly they can adjust to new sleep-wake schedules.
Short-acting sleep medications can be used to improve sleep quality and timing, and stimulating substances such as caffeine can be used to promote wakefulness, though research results on their success at adapting to jet lag are inconsistent.
For time changes of fewer than three hours, jet lag is unlikely to be a concern, and if travel is for short periods (three days or fewer) retaining a "home schedule" may be better for most people. Sleeping on the plane is only advised if it is within the destination's normal sleep time.
There have been allegations of doping in the Tour de France since the race began in 1903. Early Tour riders consumed alcohol and used ether, among other substances, as a means of dulling the pain of competing in endurance cycling. Riders began using substances as a means of increasing performance rather than dulling the senses, and organizing bodies such as the "Tour" and the International Cycling Union (UCI), as well as government bodies, enacted policies to combat the practice.
Use of performance-enhancing drugs in cycling predates the Tour de France. Cycling, having been from the start a sport of extremes, whether of speed by being paced by tandems, motorcycles and even cars, or of distance, the suffering involved encouraged the means to alleviate it. Not until after World War II were sporting or even particularly health issues raised. Those came shortly before the death of Tom Simpson in the Tour de France of 1967. Max Novich referred to the Tour de France in a 1973 issue of "New York State Journal of Medicine" as "a cycling nightmare". In the eyes of a 1998 German observer:
The International Convention against Doping in Sport is a multilateral UNESCO treaty by which states agree to adopt national measures to prevent and eliminate drug doping in sport.
Travelling west causes fewer problems than travelling east, and it is usually sufficient to seek exposure to light during the day and avoid it at night.
A subsistence allowance is provided to the patients by the Government of Karnataka from the fund reserved for the physically challenged. Assistance has also been provided to construct houses for them. A special treatment unit has been set up in the Government Hospital at Sagar with an ambulance provided to shift the affected patients to the hospital.
The fear of spiders can be treated by any of the general techniques suggested for specific phobias. The first line of treatment is systematic desensitization – also known as exposure therapy – which was first described by South African psychiatrist Joseph Wolpe. Before engaging in systematic desensitization it is common to train the individual with arachnophobia in relaxation techniques, which will help keep the patient calm. Systematic desensitization can be done in vivo (with live spiders) or by getting the individual to imagine situations involving spiders, then modelling interaction with spiders for the person affected and eventually interacting with real spiders. This technique can be effective in just one session.
Recent advances in technology have enabled the use of virtual or augmented reality spiders for use in therapy. These techniques have proven to be effective.
Many non-operative treatments have been advocated, including rest; oral administration of non-steroidal anti-inflammatory drugs; physical therapy; chiropractic; and local modalities such as cryotherapy, ultrasound, electromagnetic radiation, and subacromial injection of corticosteroids.
Shoulder bursitis rarely requires surgical intervention and generally responds favorably to conservative treatment. Surgery is reserved for patients who fail to respond to non-operative measures. Minimally invasive surgical procedures such as arthroscopic removal of the bursa allows for direct inspection of the shoulder structures and provides the opportunity for removal of bone spurs and repair of any rotator cuff tears that may be found.
Although the FD-causing gene has been identified and it seems to have tissue specific expression, there is no definitive treatment at present.
Treatment of FD remains preventative, symptomatic and supportive. FD does not express itself in a consistent manner. The type and severity of symptoms displayed vary among patients and even at different ages on the same patients. So patients should have specialized individual treatment plans. Medications are used to control vomiting, eye dryness, and blood pressure. There are some commonly needed treatments including:
1. Artificial tears: using eye drops containing artificial tear solutions (methylcellulose)
2. Feeding: Maintenance of adequate nutrition, avoidance of aspiration; thickened formula and different shaped nipples are used for baby.
3. Daily chest physiotherapy (nebulization, bronchodilators, and postural drainage): for Chronic lung disease from recurrent aspiration pneumonia
4. Special drug management of autonomic manifestations such as vomiting: intravenous or rectal diazepam (0.2 mg/kg q3h) and rectal chloral hydrate (30 mg/kg q6h)
5. Protecting the child from injury (coping with decreased taste, temperature and pain perception)
6. Combating orthostatic hypotension: hydration, leg exercise, frequent small meals, a high-salt diet, and drugs such as fludrocortisone.
7. Treatment of orthopedic problems (tibial torsion and spinal curvature)
8. Compensating for labile blood pressures
There is no cure for Familial Dysautonomia.
There is currently no cure for FD and death occurs in 50% of the affected individuals by age 30. There are only two treatment centers, one at New York University Hospital and one at the Sheba Medical Center in Israel. One is being planned for the San Francisco area.
The survival rate and quality of life have increased since the mid-1980s mostly due to a greater understanding of the most dangerous symptoms. At present, FD patients can be expected to function independently if treatment is begun early and major disabilities avoided.
A major issue has been aspiration pneumonia, where food or regurgitated stomach content would be aspirated into the lungs causing infections. Fundoplications (by preventing regurgitation) and gastrostomy tubes (to provide nonoral nutrition) have reduced the frequency of hospitalization.
Other issues which can be treated include FD crises, scoliosis, and various eye conditions due to limited or no tears.
An FD crisis is the body's loss of control of various autonomic nervous system functions including blood pressure, heart rate, and body temperature. Both short-term and chronic periodic high or low blood pressure have consequences and medication is used to stabilize blood pressure.
Treatment is usually confined to such surgical intervention as may be necessary to help the child to develop e.g. jaw distraction/bone grafts, ocular dermoid debulking (see below), repairing cleft palate/lip, repairing heart malformations or spinal surgery. Some patients with Goldenhar syndrome will require assistance as they grow by means of hearing aids or glasses.
Stem cell grafting (womb tissue grafting) has been successfully used to "reprogram" eye dermoids, effectively halting the regrowth of eye dermoids.
These tissues that grow on the eye are "mis-programmed" cells (sometimes tooth or nail cells instead of eye cells).
Cardiac and respiratory complications are treated symptomatically. Physical and occupational therapy may be beneficial for some patients. Alterations in diet may provide temporary improvement but will not alter the course of the disease. Genetic counseling can provide families with information regarding risk in future pregnancies.
On April 28, 2006 the US Food and Drug Administration approved a Biologic License Application (BLA) for Myozyme (alglucosidase alfa, rhGAA), the first treatment for patients with Pompe disease, developed by a team of Duke University researchers. This was based on enzyme replacement therapy using biologically active recombinant human alglucosidase alfa produced in Chinese Hamster Ovary cells. Myozyme falls under the FDA Orphan Drug designation and was approved under a priority review.
The FDA has approved Myozyme for administration by intravenous infusion of the solution. The safety and efficacy of Myozyme were assessed in two separate clinical trials in 39 infantile-onset patients with Pompe disease ranging in age from 1 month to 3.5 years at the time of the first infusion. Myozyme treatment clearly prolongs ventilator-free survival and overall survival. Early diagnosis and early treatment leads to much better outcomes. The treatment is not without side effects which include fever, flushing, skin rash, increased heart rate and even shock; these conditions, however, are usually manageable.
Myozyme costs an average of US$300,000 a year and must be taken for the patients' entire life, so some American insurers have refused to pay for it. On August 14, 2006, Health Canada approved Myozyme for the treatment of Pompe disease. On June 14, 2007 the Canadian Common Drug Review issued their recommendations regarding public funding for Myozyme therapy. Their recommendation was to provide funding to treat a very small subset of Pompe patients (Infants less one year of age with cardiomyopathy). Genzyme received broad approval in the European Union. On May 26, 2010 FDA approved Lumizyme, a similar version of Myozyme, for the treament of late-onset Pompe disease.
A new treatment option for this disease is called Lumizyme. Lumizyme and Myozyme have the same generic ingredient (Alglucosidase Alfa) and manufacturer (Genzyme Corporation). The difference between these two products is in the manufacturing process. Today, the Myozyme is made using a 160-L bioreactor, while the Lumizyme uses a 4000-L bioreactor. Because of the difference in the manufacturing process, the FDA claims that the two products are biologically different. Moreover, Lumizyme is FDA approved as replacement therapy for late-onset (noninfantile) Pompe disease without evidence of cardiac hypertrophy in patients 8 years and older. Myozyme is FDA approved for replacement therapy for infantile-onset Pompe disease.
Recent studies on chaperone molecules to be used with myozyme are starting to show promising results on animal models.