Is Genetic Testing for Alzheimer’s Disease Right for You?By Amy Brenner-FrickePublished March 02, 2023Chris Hemsworth, the Australian actor perhaps best known for his role as Marvel Comics superhero Thor, recently made the news for a more personal reason: his DNA results. While filming a new docuseries about health and aging, the 39-year-old actor discovered that he has two copies of a gene variant (APOEe4) that is linked to an increased risk of developing Alzheimer’s disease after the age of 65. His story has many people asking themselves, “Should I have my genes tested, too?”
According to experts at Yale New Haven Health, the answer is: It depends – but that’s probably not the first thing you should do.
“Alzheimer’s disease is just one type of the conditions that present with dementia,” said Anna Szekely, MD, a neurologist and geneticist at Yale New Haven Hospital who leads the Yale Neurogenetics Clinic in the Department of Neurology at Yale School of Medicine.
Read more about genetic testing for Alzheimer's
Heartburn might seem a small price to pay after a heavy meal of fried foods or decadent desserts. But that burning sensation in the chest could be a sign of a more serious condition.
Despite the name, heartburn has nothing to do with the heart. Heartburn is a symptom of acid reflux, which is when some of the contents of the stomach flow back up into the esophagus. This can cause a burning sensation in your chest or neck. The pain may be worse at night or when you are lying down.
Many people experience acid reflux from time to time. However, when acid reflux happens repeatedly, it can cause a condition known as gastroesophageal reflux disease (GERD). Other symptoms of GERD can include a sour taste in the mouth, difficulty swallowing, the sensation of a lump in your throat or a chronic cough.
According to William Ravich, MD, a gastroenterologist with Yale Medicine who specializes in swallowing disorders and esophageal disease, reflux is usually caused by one of two things. The first is a hiatal hernia, which occurs when the upper part of the stomach extends into the chest. This is what promotes reflux.
“If you eat a lot but the stomach is in a normal place, the pressure that builds up in the stomach is actually applied to the lower end of the esophagus and helps prevent reflux. But if the lower end of the esophagus is in the chest, it’s like a tube of toothpaste. That same pressure is forcing stomach contents up into the esophagus,” Dr. Ravich said.
The second cause of reflux is related to the lower esophageal sphincter, a circular muscle that is located where the esophagus meets the stomach. It stays closed most of the time. When you swallow, it opens to allow food and liquid to flow into your stomach and then closes again. However, when this muscle is weak and doesn’t close correctly, stomach acid can flow back up into your esophagus.
Certain lifestyle factors increase the risk of GERD or acid reflux. These include smoking, obesity and pregnancy. Specific dietary habits may also trigger heartburn, including the consumption of spicy or fatty foods, tomatoes and tomato sauces, caffeine, alcohol, chocolate and carbonated drinks.
For most people, occasional reflux is nothing to worry about. Diet and lifestyle changes can help control symptoms. For others, additional treatments may be required. If you have frequent or severe heartburn multiple times a week that does not improve with over-the-counter medication, you should tell your doctor.
Excessive amounts of reflux can cause esophageal inflammation, called esophagitis. This may cause the esophagus to become narrow due to scarring, referred to as a stricture. Esophageal inflammation may also lead to esophageal cancer in some people, according to Dr. Ravich.
An evaluation to determine the severity of esophageal damage from reflux may include endoscopy, a procedure during which a gastroenterologist looks at the lining of the esophagus using a flexible telescope.
Treatment options for reflux may include prescription medications such as acid blockers and suppressants, proton pump-inhibiters and H2 blockers that decrease stomach acid.
Patients with severe reflux may be candidates for surgical interventions such as fundoplication, a procedure that reduces a hiatal hernia and creates an artificial barrier against reflux. Surgery is usually considered only when medical management fails.
The good news, according to Dr. Ravich, is patients who make lifestyle modifications such as eating a healthy diet, exercising and sleeping in an elevated position often find relief.
“Changing the way you eat and your daily habits can go a long way in making symptoms better. And if you do need medication, those changes make it possible to be on less medication,” he said.
Learn more about how Yale New Haven Health’s Digestive Health team provides care for patients with swallowing and esophageal disorders.
While the world followed the development and impact of the COVID-19 vaccines over the past few years, a different vaccine was quietly providing levels of immunity that continue to keep pediatricians buzzing.
Elizabeth Dieckman, MD, a pediatrician with Northeast Medical Group who is affiliated with Yale New Haven Children’s Hospital, said the human papillomavirus (HPV) vaccine is exciting because it is one of the very few things that can prevent cancer. "We know this is a safe and effective vaccine," Dr. Dieckman said. “It’s been around in some form since 2006. It had years of study before its approval and has been monitored in the years since.”
The Centers for Disease Control (CDC) states that HPV is the most common sexually transmitted infection in the United States. More than 42 million people are currently infected in the country and 13 million more become infected each year. It is estimated that nearly everyone will become infected at some point.
While most HPV infections do not lead to serious health problems, Dr. Dieckman said some cause cancer in men and women. CDC reports indicate that 36,000 cases of cancer in the United States are caused by HPV every year.
“The vaccine can prevent over 90 percent of the cancers caused by HPV,” she added. “That’s why it’s such an important tool for us.”
The HPV vaccine is approved for use in children as young as 9, but Dr. Dieckman said it’s more common to begin talking about it with families of 11- and 12-year-olds. The current vaccine is administered via a two-dose series for children under the age of 15. The second shot is delivered six to 12 months after the initial dose. Dr. Dieckman explained that children who are 15 or older require a three-dose series to receive the same level of protection.
“The goal is to get kids vaccinated before they’re exposed to the virus,” she said. “Sometimes parents are concerned when we bring it up because we’re talking about a virus that is spread sexually. We’re clear that we’re not assuming their child is sexually active, and we’re not giving them permission to begin having sex. Because we know the vaccine only works if you have not been exposed to the virus, it’s important to administer it before adolescents become sexually active.”
Gregory Germain, MD, associate chief of pediatrics at Yale New Haven Children’s Hospital and associate clinical professor of pediatrics at Yale School of Medicine, explains that the HPV vaccine is often given at the same time as the first meningitis vaccine (sometimes referred to as the college meningitis vaccine), when kids are 11 or 12 years old.
“Many parents will hear about the HPV vaccine and ask to delay it saying, ‘My child is a long way off from being sexually active,’” he said. “But no parent ever has said to me, ‘Let's hold off on the college meningitis vaccine because my child is a long way off from going to college.’ Prevention is key, and that involves immunizing well ahead of college and, in the case of HPV, well ahead of sexual activity.”
Dr. Diekman’s advice is to speak with your child’s pediatrician if you have questions about HPV or the vaccine. If your child needs a pediatrician, find a doctor.
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The Yale New Haven Hospital Auxiliary is offering 10 scholarships in the amount of $2,500 each to area high school students planning to pursue a career in a health-related profession.
Scholarships are based on academic excellence; financial need; personal statement; and community service, including school and community activities and/or employment.
Applicants must be high school seniors who are residents of one of the following towns: Bethany, Branford, Cheshire, East Haven, Guilford, Hamden, Madison, Milford, New Haven, North Branford, North Haven, Orange, Wallingford, West Haven or Woodbridge.
Applications may be requested at [email protected] or 203-688-5717. Submission deadline is March 17.
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