AlzheimersResearch UK (February 28, 2023) – In this video, Prof Nick Fox, Director of the Dementia Research Centre at UCL (and specialist in familial Alzheimer’s disease) answers frequently asked questions about getting a genetic test for dementia.
Video timeline:0:00 Start 0:01 #1.What is the difference between dementia risk genes and rare familial genes? 1:05 #2.Which genes are tested for? 1:45 #3.What happens in families with directly inherit dementia? 3:20 #4.What are the common misconceptions? 4:14 #5.Do I need to know which gene runs in my family? 9:50 #6.How do I get a genetic test for dementia? 11:09 #7.What if my doctor won’t refer me for the test? 11:56 #8.Will getting my results affect my life insurance or mortgage?
Having a test to look for a faulty gene that causes dementia is only appropriate for a very small number of people. This is because only around one in 100 cases of dementia are directly inherited. In these cases, there is an obvious pattern of a parent passing it on to their child (or children) throughout every generation of a family, often developing symptoms in their 40s and 50s.
Your “normal” body temperature changes throughout your life. It often rises from childhood into adulthood before dipping during the later years of life.
Cleveland Clinic (February 21, 2023) – But newer studies suggest the average person today actually runs a little cooler than that — somewhere between 97.5 F (36.4 C) and 97.9 F (36.6 C).
For younger children
The typical body temperature range for children between birth and 10 years old goes from 95.9 F (35.5 C) to 99.5 F (37.5 C). This would be a temperature measured through an oral reading.
For adults and older children
The typical body temperature range for people ages 11 to 65 is 97.6 F (36.4 C) to 99.6 F (37.6 C).
For older adults
The typical body temperature range for people older than 65 is 96.4 F (35.8 C) to 98.5 F (36.9 C).
A temperature that’s higher than 100.4 F (or 38 C) is considered a fever, and it’s usually something you should bring to your doctor’s attention — especially if it lingers for more than two days, Dr. Ford says.
Oftentimes, a fever is your body’s reaction to an infection or virus (like influenza). A fever itself doesn’t require any specific treatment, other than trying to bring the temperature down for your comfort.
Persistent low-grade or high-grade fevers could signal that something else is going on in your body. A number of medical conditions, including hyperthyroidism and other endocrine disorders, can raise your body’s core temperature.
Yale Medicine (February 11, 2023) – Robotic bronchoscopy, also known as robotic-assisted bronchoscopy, is a recent advancement in bronchoscopy, the procedure used to biopsy lung nodules to detect the presence of lung cancer and other lung diseases. Lung cancer is the third most common type of cancer and the leading cause of cancer-related death in the United States.
Early diagnosis and treatment often lead to better outcomes. A diagnosis of lung cancer often begins when a chest X-ray or computed tomography (CT) scan shows a nodule—an area of abnormal tissue—in the lungs. If the nodule is suspicious or grows over time, doctors will perform a biopsy to collect a tissue sample that can be tested for the presence of cancer cells. Bronchoscopy is a widely used procedure for biopsying lung nodules.
In traditional bronchoscopy, a doctor manually guides a thin tube, called a bronchoscope, into the patient’s mouth or nose, down the throat, past the vocal cords and windpipe, and into the passageways of the lungs. The bronchoscope is equipped with a light, camera, and biopsy tools that allow doctors to visually examine and biopsy nodules. But robotic bronchoscopy is different. Like traditional bronchoscopy, it’s a minimally invasive procedure that allows doctors to biopsy nodules in the lungs.
The difference is that in robotic bronchoscopy, the doctor uses a controller at a console to operate a robotic arm. The robotic arm guides a catheter—a thin, flexible, and maneuverable tube equipped with a camera, light, and shape-sensing technology—through the patient’s airways. The robotic arm’s precise movements enable doctors to accurately direct the catheter around tight turns in the airways and into the hard-to-reach areas of the lungs. This means doctors can examine and biopsy suspicious nodules—and potentially detect cancer—in parts of the lungs that may be inaccessible with traditional bronchoscopy.
What’s more, the procedure is safe—serious complications are rare—and recovery is usually quick. “As part of the comprehensive Thoracic Oncology Program, we are now able to offer patients the option of robotic bronchoscopy,” says Yale Medicine interventional pulmonologist Christopher Morton, MD. “This technology will allow us to biopsy lung nodules and masses with improved accuracy and fewer side effects, in addition to lymph node biopsies that we already do. This will get patients diagnosed and referred to the appropriate treating physician quicker.”
Research on sleep disorders and the importance of regular shut-eye has deepened our understanding of the link between sleep and brain health.
February 2023
Overall, there are more than 80 sleep disorders, ranging from the mildly annoying to the potentially deadly. The best known is probably insomnia; about 10 percent of the general population has chronic insomnia, an inability to fall asleep for multiple nights over a period of months.
Addressing sleep disorders “is paramount to not only protecting the brain down the road but also on a day-to-day basis,” says Daniel Barone, MD, associate medical director of the Weill Cornell Center for Sleep Medicine in New York City and co-author of The Story of Sleep: From A to Zzz (Rowman & Littlefied, 2023). “One of the best ways to take care of our brains is by getting quality sleep.”
Intriguing Clues
Research on sleep disorders has led to improvements in treatment for a variety of sleep and neurologic conditions. Case in point: Studies in the late 1990s on the causes of narcolepsy with cataplexy—the condition Connor was initially diagnosed with—led to the development of dual orexin receptor agonists, drugs now commonly prescribed to treat insomnia. The researchers discovered that people with narcolepsy with cataplexy often had low levels of hypocretins (orexins), brain chemicals that sustain alertness and prevent REM from happening at the wrong time.
“Once they found out, ‘If I take away your hypocretin, it makes you sleepy,’ there was a new idea of how to make a sleeping pill,” says Rafael Pelayo, MD, clinical professor of psychiatry and behavioral sciences at Stanford University School of Medicine in California and a sleep specialist at the university’s Sleep Medicine Center.
“Many health conditions have a genetic link,” says Breanna Mitchell, a genetic counselor at Mayo Clinic Health System in Eau Claire. “Genetic testing can help you and your health care team understand if you have an increased risk for developing certain conditions that are present in your family. If you are at risk, you may be able to take preventive measures to decrease your risk or undergo genetic testing to clarify your risk.”
Mayo Clinic (February 6, 2023) – Your genes play a role in nearly all areas of your health. A gene is like an instruction manual for your body that tells your body how to function, develop and stay healthy. People have about 20,000 genes in their bodies.
Here are nine common questions about genetic testing:
Do all types of cancers have a genetic component?
Most cancers are considered sporadic, meaning the cancer happens randomly or has environmental influences, such as smoking and lung cancer. About 25% of cancers are considered familial. This is when multiple members of a family are affected by cancer. These family members have some shared genetic factors in combination with shared environmental factors that lead to the development of these cancers.
“About 10% of cancers are considered hereditary or have a single specific genetic component that can be tested and increase a person’s risk for developing cancer,” Mitchell says. “Genetic counseling and genetic testing can help determine which category a person’s individual or family cancer falls into. It also can help estimate your risk for developing cancer.”
What types of genes are examined during genetic testing?
You may have an increased risk for some health conditions, including some types of cancer, based on your genes. A genetic test looks for specific harmful gene changes, called mutations or pathogenic variants, that can cause you to develop a genetic condition. Gene changes are like spelling errors within your body’s instruction manual.
Most genetic tests look for changes in a group of genes called a panel. However, testing may look for changes in a single gene when there is a known genetic mutation in your family. The most common genes typically thought of related to cancer risk are BRCA1 and BRAC2. These genes are associated with breast and ovarian cancer. It’s known that changes in other genes can increase risk for these cancers, as well.
There also are gene panels that assess risk for other cancers, such as colorectal, pancreatic, prostate, liver, uterine and endometrial cancers.
As levels of estrogen, a crucial chemical messenger, trend downward, women are at higher risk for severe depressive symptoms. Bone loss accelerates. In women who have a genetic risk for Alzheimer’s disease, the first plaques are thought to form in the brain during this period.
February 4, 2023
About 85 percent of women experience menopausal symptoms. Rebecca Thurston, a professor of psychiatry at the University of Pittsburgh who studies menopause, believes that, in general, menopausal women have been underserved — an oversight that she considers one of the great blind spots of medicine. “It suggests that we have a high cultural tolerance for women’s suffering,” Thurston says. “It’s not regarded as important.”
Even hormone therapy, the single best option that is available to women, has a history that reflects the medical culture’s challenges in keeping up with science; it also represents a lost opportunity to improve women’s lives.
The New York Times, Sunday magazine, posted an article by Susan Dominus entitled “the vicious cycle”, in which was a long discussion of the disease burden of menopause. It is well worth reading.
“Forever Feminine” was a book by Robert Wilson, in 1966, which promoted hormone treatment for “enjoyment of sex” in menopausal women. The use of estrogen skyrocketed.
Alarming research in 1975, which linked estrogen usage to endometrial cancer, halted the rise of the drug’s popularity.
Without hormonal treatment, the many symptoms of menopause were devalued and quietly suffered by women.
The medical profession has been slowly recovering from whiplash. New, better controlled research is being done and slowly a more nuanced approach is being taken. Women with a history of heart attack or stroke are still generally advised against hormonal therapy, but many others are being given birth control pills, which is a combination of estrogen and progesterone.
The average age of menopause is approximately 50 years of age, but symptoms can anticipate menopause by several years. An elevated FSH is the usual laboratory test to indicate perimenopause.
Early menopause can be associated with a decreased lifespan, increased likelihood of osteoporosis, cardiovascular disease and dementia, and is often treated with hormonal therapy. A delayed menopause is less likely to be treated with hormonal therapy, because of increased risk.
There are a lot of risk factors to be balanced against the symptoms involved, such as hot flashes and the entire panoplay of symptoms indicated in the infographic.
Some day, artificial intelligence will be used in order to make more explicit the benefits and risks involved. Until that time, the patient suffering from premenopausal or menopausal symptoms should find a Doctor Who would actually listen to her, a difficult task these days.
—Dr. C.
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