The Scan by 2 Minute Medicine®: Genetics of Alzheimer’s, the Silent Killer, a Holiday Blizzard and an HIV Vaccine on the Horizon

The Scan by 2 Minute Medicine® is a popular culture medical newsletter and feature exclusive to For 2 Minute Medicine Plus subscribers.

Genetics of Alzheimer’s disease

the story: Chris Hemsworth recently took to Instagram to inform fans that he will be taking a break from his career following the results of a Genetic test. The actor, best known for his role as Thor in the Marvel Universe, has undergone genetic testing for a new documentary series. no limits And it was discovered that he had a genetic predisposition to Alzheimer’s disease. Although the results of the genetic test stunned the actor, he said it wasn’t a complete shock, since he has a family history with Alzheimer’s disease. Recent news sheds light on Alzheimer’s disease and the importance of understanding the risks and implications of genetic testing.

So what is Alzheimer’s disease?

Alzheimer’s disease is the most common form mental illness, They make up 40-45% of dementia cases. Alzheimer’s disease The disease is characterized by deterioration of brain function over time symptoms Including memory loss, personality changes, poor judgment, and more. Alzheimer’s disease is not uncommon, with more than 6,000,000 Americans with the disease. The incidence of Alzheimer’s disease increases with age, but those who develop symptoms before the age of 65 are considered An early start Alzheimer’s disease. Although Alzheimer’s disease cannot be cured, there are medications that can help manage symptoms. Cholinesterase inhibitors They inhibit the breakdown of acetylcholine, an important neurotransmitter implicated in disease, and help improve symptoms. New therapies are also being developed for and within 2021 The US Food and Drug Administration has approved aducanumab for the treatment of mild Alzheimer’s disease. The drug works by binding to amyloid- b tangles in the brain, which are thought to be responsible for disease pathology. lately Phase 3 randomized clinical trialOne study found a statistically significant increase in cognition and function in those treated with a high dose of aducanumab compared to a placebo, but the other study did not. More research will be needed to determine whether newer medications can be more effective in treating symptoms of the disease.

What is the deal with this genetic mutation?

Chris Hemsworth’s genetic test results indicated that he has two copies of a gene called APOE-e4. APOE-e4 is known to be the strongest genetic predictor of Alzheimer’s disease, and although scientists aren’t entirely sure what role the gene plays in the pathology of the disease, recent studies have indicated that it likely plays a role in altering Alzheimer’s disease. Fat metabolism in the brain. It is important to note that carrying the APOE-e4 gene does not automatically lead to Alzheimer’s disease. In fact, about a quarter of the population carries one copy of the gene 2-3% of the population Who carries two copies, not everyone goes on to develop the disease. In fact, many experts are taking the Chris Hemsworth news as an opportunity educate people about the polygenic nature of the disease and reminding the public that certain genetic markers are not determinants of Alzheimer’s disease, only risk factors. In fact, many specialists advise against Testing for genetic variants such as APOE-e4 because the consequences and implications of those findings can be very difficult to determine.

What’s Next?

The recent news shared by Chris Hemsworth sheds light on the disease and some of its symptoms struggles faced by dementia sufferers. Although there is no telling what the future holds for a known carrier of APOE-e4, stay activeAnd healthy foodAnd Reduce alcohol consumption are some well-documented ways to reduce risk.

the silent killer

The World Cup was not without its epic moments: the heroic underdog stories for victorious starsThere was no shortage of entertainment. Unfortunately, the excitement also coincided with the tragedy, when it was announced that Grant Wahl, an American football journalist, had died. A recent autopsy concluded that the sudden cause of death in a previously healthy 49-year-old was Aortic aneurysm. The tragedy now draws attention to the case known as “silent killer. “

the aorta; It is the largest artery in the body, and is responsible for transporting oxygenated blood from your heart to the rest of your tissues. that Aortic aneurysm It occurs when the walls of the aorta weaken, causing a bulge in the aorta that gets worse over time. Aortic aneurysms can occur anywhere along the aorta. However, they are more common in the part of the aorta that passes through abdomen. Aortic aneurysms develop slowly over time, usually at a rate 1-2 mm annually and the size of the aneurysm is associated with the risk of complications. There are two possible risks associated with aneurysms: dissection and rupture. that Aortic dissection It occurs when an aneurysm tears part of the lining of the arteries, dissecting the wall of the aorta. Aortic rupture, which is what happened in Grant Wahl, occurs when an aneurysm ruptures, allowing blood to leak out of the aorta. When lacerations occur, they are fatal 80% of the time.

Many people don’t realize they have an aneurysm, however symptoms Chest pain, lower back pain, feelings of pulsation in the abdominal area, and a sudden drop in blood pressure can indicate a rupture and the need for immediate medical attention. Aortic aneurysms occur most commonly in men, and Factors Such as aging, smoking, high blood pressure and some genetic conditions It can increase your risk of developing one. In fact, given the role smoking plays in the development of aneurysms, US Preventive Task Force It recommends screening for aortic aneurysms for males with a history of smoking and between the ages of 65 and 75. Although aortic aneurysms are known as the “silent killer,” eating healthy, controlling your blood pressure, quitting smoking, and knowing the warning signs of a rupture can all help keep you safe.

Blizzard holiday

over the past few weeks, Blizzards broke out Across North America, with snow, cold temperatures and many canceled vacation plans. Besides arctic-like temperatures, holiday blizzards are accompanied by a plethora of blizzards Health risks. Frostbite and hypothermia are among the most obvious risks when temperatures drop. Frostbite It occurs when the temperature drops below 28 degrees Fahrenheit, and with colder temperatures, frostbite occurs more quickly. When this happens, the vessels in your extremities constrict to conserve heat, resulting in tissue damage from the combination of reduced blood flow and cold temperatures. Although frostbite is often treatable and has a good prognosis, many people have it Long term effects From frostbite, such as nerve pain and skeletal damage. Hypothermia It differs from frostbite, in that instead of specific tissues being affected as in frostbite, hypothermia is the result of a low core body temperature (below 35°C). symptoms Hypothermia can include shivering, confusion, weak pulse, and more. When these symptoms occur, medical attention is necessary.

While anyone exposed to cold temperatures for an extended period of time can develop hypothermia, some residentsThose, such as the elderly, infants, and those under the influence of alcohol or drugs, are at greater risk. Although cold weather injuries are largely preventable, A study Looking at these injuries in the United States over a 10-year period, there were more than 15,000 ED visits attributable to hypothermia and other cold-related injuries. In addition, more of these visits require transfer to critical care than other emergency department visits. In other words, cold weather injuries are resource intensive, yet preventable, in hospitals. The reason for this is that although dressing for the weather and avoiding prolonged exposure to the cold can help prevent frostbite and hypothermia, it is not possible for everyone, especially those who are not habitable. In fact, one study found that deaths from hypothermia are Thirteen times higher in uninhabited individuals compared to the general population. So did the winter storms To be noticed For more open case warming centers and making more resources available to unhoused individuals, especially during severe weather conditions.

HIV vaccine on the horizon?

The results of a recent study indicate an important step towards developing a vaccine against HIV. Immunity deficiency Virus (Immunity deficiency Virus) destroys T cells, a type of immune cell in the body, weakening the immune system and often leading to acquired immunodeficiency syndrome (AIDS)help). appreciate 38 million People all over the world are currently living with HIV, and HIV/AIDS has been responsible for more than 40 million deaths since its discovery. While many efforts have been made to reduce the spread of HIV, many believe that ending the epidemic will require development Serum.

newly First stage study found that an experimental HIV vaccine can induce broadly neutralizing antibodies in humans. Broadly neutralizing antibodies It can target several strains of HIV at once, knocking down a problem It is constantly changing virus. In the study, 97% of the participants It produced broadly neutralizing antibodies after vaccine administration and the vaccine also showed a favorable safety profile. Up to this point, efforts to stimulate these “super antibodies” had been in place not serious So the results of this study represent a major step forward in the development of an HIV vaccine. Although a vaccine against HIV is still a long way off, new technologies show hopeful advances towards United nationsThe goal of ending the AIDS epidemic.

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