Month: December 2021

Discovering the cause of a disease is not easy. One reason is that the vast majority of diseases do not have a single cause. Instead, most diseases occur because multiple factors combine to cause the disease.

One factor is genes. Some people are born with one or more genes that make them vulnerable to a disease. Other factors come from your environment and behavior: what you eat, the air you breathe, the amount of physical activity you engage in, and habits such as smoking. Recent research finds that certain viruses may also be important contributing factors in causing multiple sclerosis (MS).

Multiple sclerosis harms cells in the brain and spinal cord — but why?

Multiple sclerosis is a disease of the brain and spinal cord that can cause many neurological symptoms, including arm and leg weakness, loss of vision, and difficulty thinking, as well as severe fatigue. Over the past 50 years we’ve learned that MS is an autoimmune disease: in various ways, the immune system attacks the brain and/or the spinal cord, leading to the symptoms of the illness.

However, we haven’t figured out why: what causes the immune system to go on the attack? Over the years, several viruses have been proposed as causes of MS, only to have subsequent research show that they were not. That led some MS doctors and scientists to discount viruses as possible causes.

Yet growing evidence in recent years points to several viruses that may be triggers of MS. The strongest evidence is for Epstein-Barr virus (EBV). This virus infects most people in developed nations like the US in their teen or young adult years.

Once a person is infected, the virus quietly remains alive in the body for the rest of a person’s life. In most people, it causes no health problems. But, rarely, it can cause certain cancers. Now, it has been linked to multiple sclerosis.

Delving deeper into a link between Epstein-Barr virus and MS

A large, long-term study from Harvard, published in the prestigious journal Science, attracted a lot of attention. Blood samples were repeatedly collected from 10 million US military personnel over 20 years. The samples were tested for evidence of infection with EBV.

Over the 20 years, some people in the study developed MS. The researchers compared two groups: people who were not infected with EBV when they entered military service, but then became infected later on; and people who remained uninfected by the virus. Those in the first group were 32 times more likely to develop MS than those in the second group. On average, symptoms of MS began about five years after a person became infected with EBV.

What do these findings tell us? The study provides strong evidence that a new infection with EBV is one important factor — maybe even a necessary factor — in causing MS. But the story is more complicated than that. Think about this: About 95% of all humans become permanently infected with EBV by early adulthood, but fewer than 1% of people develop MS. So, just being infected with EBV doesn’t mean a person will get MS — far from it. Indeed, other factors besides EBV infection also must be involved in causing MS.

Those other factors almost certainly include being born with certain genes that make you vulnerable to getting MS. Being infected with other viruses, as well as EBV, also may be important factors.

But which viruses? In my opinion, growing evidence indicates that a “cousin” of EBV, called human herpesvirus-6A, also may be important in triggering MS. And the genes of endogenous retroviruses also may be factors.

What are endogenous retroviruses?

About 8% of the genes that we are born with come from ancient viruses called retroviruses. These viral organisms successfully inserted their genes into the genes of the animals that preceded, and led to, humans. Some of those genes can be turned on to make proteins that affect our immune systems. Finally, there is evidence that each of these viruses — EBV, human herpesvirus-6A, and endogenous retroviruses — can activate one another, and gang up to cause a disease.

Going forward: New research may offer new leads for prevention

If the Epstein-Barr virus is one important factor in causing multiple sclerosis, then it is possible that vaccines against EBV might lead to fewer cases of MS. Indeed, several scientific groups around the world are working on such vaccines.

One company that made the mRNA vaccine for COVID-19 is working on an mRNA EBV vaccine. The National Institutes of Health also is developing a vaccine. However, it is unlikely we will know if they are effective against EBV, or against the development of MS, for at least a decade. Still, the linkage with this virus may prove to be an important milestone in ultimately conquering multiple sclerosis.

When you think about progressive brain disorders that cause dementia, you usually think of memory problems. But sometimes language problems — also known as aphasia — are the first symptom.

What’s aphasia?

Aphasia is a disorder of language because of injury to the brain. Strokes (when a blood clot blocks off an artery and a part of the brain dies) are the most common cause, although aphasia may also be caused by traumatic brain injuries, brain tumors, encephalitis, and almost anything else that damages the brain, including neurodegenerative diseases.

How neurodegenerative diseases cause aphasia

Neurodegenerative diseases are disorders that slowly and relentlessly damage the brain. After ruling out a brain tumor with an MRI scan, you can usually tell when aphasia is from a neurodegenerative disease, rather than a stroke or other cause, by its time course: Strokes happen within seconds to minutes. Encephalitis presents over hours to days. Neurodegenerative diseases cause symptoms over months to years.

Alzheimer’s disease is the most common neurodegenerative disease, but there are other types as well, such as frontotemporal lobar degeneration. Different neurodegenerative diseases damage different parts of the brain and cause different symptoms. When a neurodegenerative disease causes problems with language first and foremost, it is called primary progressive aphasia.

How is primary progressive aphasia diagnosed?

Primary progressive aphasia is generally diagnosed by a cognitive behavioral neurologist and/or a neuropsychologist who specializes in late-life disorders. The evaluation should include a careful history of any language and other problems that are present; a neurological examination; pencil-and-paper testing of thinking, memory, and language; blood tests to rule out vitamin deficiencies, thyroid disorders, infections, and other medical problems; and an MRI scan to look for strokes, tumors, and other abnormalities that can affect the brain’s structure.

The general criteria for primary progressive aphasia include:

• difficulty with language is the most prominent clinical feature at the onset and initial phases of the neurodegenerative disease
• these language problems are severe enough to cause impaired day-to-day functioning
• other disorders that could cause the language problems have been looked for and are not present.

There are three major variants of primary progressive aphasia

Primary progressive aphasia is divided into different variants based on which aspect of language is disrupted.

Logopenic variant primary progressive aphasia causes word-finding difficulties. Individuals with this variant have trouble finding common, everyday words such as table, chair, blue, knee, celery, and honesty. They know what these words mean, however.

Semantic variant primary progressive aphasia causes difficulty in understanding what words mean. When given the word, individuals with this variant may not understand what a table or chair is, which color is blue, where to find their knee, what celery is good for, and what honesty means.

Nonfluent/agrammatic variant primary progressive aphasia causes effortful, halting speech in which individuals know what they want to say but cannot get the words out. When they can get words out, their sentences often have incorrect grammar. Although they know what the individual words mean, they may have trouble understanding a sentence with complex grammar, such as, “The lion was eaten by the tiger.”

Different primary progressive aphasia variants are caused by different diseases

These primary progressive aphasia variants are not diseases themselves. They are symptoms of brain problems. Not sure what I mean? Consider three other symptoms: fever, headache, and chest pain. As you know, each of these symptoms may be caused by different underlying diseases.

The logopenic variant of primary progressive aphasia is usually caused by Alzheimer’s disease. Does that surprise you? What this means is that although Alzheimer’s disease typically begins with memory loss, in some individuals it can start with trouble finding words. Memory problems typically begin a few years later. (Why do we call it Alzheimer’s disease if it doesn’t start with memory problems? Because Alzheimer’s disease is defined by the pathology that we see under the microscope when we examine the brain tissue, not by its symptoms.)

The semantic variant of primary progressive aphasia is usually caused by frontotemporal lobar degeneration, and specifically by accumulation of TDP-43. TDP-43 is an abnormal protein that accumulates in — and ultimately kills — brain cells.

The nonfluent/agrammatic variant of primary progressive is also usually caused by frontotemporal lobar degeneration, but this time it is most often due to tau pathology. Tau accumulation leads to tangles inside cells that damage and then destroy them.

Can primary progressive aphasia be treated?

The treatments available for primary progressive aphasia are generally strategies and systems to help individuals with these disorders communicate better.

• Thinking of information related to the word they are looking for can sometimes help individuals with logopenic variant primary progressive aphasia. For example, if they are searching for the word lion, thinking of yellow, Africa, big cat, mane, and similar words may help.
• Using your tone of voice, facial expression, and body language can be helpful to communicate with individuals with semantic variant primary progressive aphasia, as can pantomiming the message you are trying to convey.
• Using pictures, either on paper or in a tablet-based application, can be helpful to individuals with all variants of primary progressive aphasia.

Unfortunately, there are no cures for primary progressive aphasia, and no medications that have been shown to be effective. Most patients with primary progressive aphasia develop other cognitive problems over time, leading to a more general dementia.

If you suspect that you (or your loved one) may have primary progressive aphasia, start by meeting with your doctor. If your doctor is concerned, they will send you (or your loved one) to the right specialist.

Hospitals across the country are still scrambling to recover from the toll of an ever-shifting pandemic. What does that mean if you wind up in an emergency department (ED) due to an illness or accident? What should you know and what can you expect? As an emergency medicine doctor at a large teaching hospital, here are some key points to help you navigate a visit to the ED.

The starting line

In the chaos of an emergency department, odds are high that you will encounter a rotating crew of clinical and administrative staff. Their initial goal is to get each person registered for the visit, assess how urgently they need a clinician, and determine which treatment and diagnostic tests are needed. Usually, this is not a simple or quick process. Getting you the care you need hinges on first gathering the information you can provide, and then applying our skills and a range of tools to interpret it. Throughout this process you will be asked to repeat your story several times.

What brings you to the emergency room?

The opening question “What brings you to the emergency department?” is the portal of entry that allows emergency room clinicians to explore your ailment or concerns. The first time around, you’ll probably be eager to answer. The difficulty is the second, third, and fourth time the same question is asked. Yes, everyone is asking the same question, and you are telling the same story.

Good communication is key. We need correct, clear, and comprehensive information from you to guide your care in the emergency department. Seeking and getting accurate information reassures clinicians that informed and complete care is being delivered. Every discussion should welcome you into the conversation so that you may participate while clinicians make decisions.

Throughout your care, you should always be able to say, “Can you please explain what is happening?” or “Could you say that in a different way, because I’m not understanding you.” You can also ask “Is it possible to do this another way?” or “Can I take a break?” (In some instances, of course, that may not be possible.)

Who will you see?

Waiting in the emergency department is itself a journey, particularly at academic medical centers with deep health resources and personnel. At an academic ED like the one I work in, you might first speak with the triage nurse, who asks screening questions that will inform how quickly you need to be seen, then an assigned nurse, who might provide care for you for the entire visit, and later a resident or medical student.

The resident or student ultimately presents your case to me, an attending physician. Some EDs have physician assistants or nurse practitioners who work independently, or in collaboration with attendings. So you might see as many as five clinicians. Often when I ask people to repeat their story I hear, “I’m sorry, I’ve already told the story multiple times. Do we have to go through the process again?” I understand their preference to move the visit forward, not backward. But yes, I have them tell it again, even if it is a shorter version, hoping to glean details that help build a diagnosis.

Why will you wait?

There are many reasons for lengthy waits, which grew still longer at many EDs during the pandemic. First, uniting the team into one conversation is often difficult. Our patients arrive sporadically, procedures need to be performed, phone calls occur, family meetings arise, and so forth. Staggering the team is usually the most efficient way to function.

Teaching hospitals at academic medical centers train future doctors. By seeing you without supervision and discussing their medical decisions with experienced physicians like me, residents and students learn to form their own clinical judgment. Their independence during training helps keep our healthcare system afloat.

Equally important, spacing out interviews can help us find missed information to reach the correct diagnosis. In one case I vividly recall, a nurse initially thought a patient reporting pelvic pain had a urinary tract infection. Later, a junior resident and I asked clarifying questions, hoping to further uncover the root of her illness. We closely examined the location of pain and noticed extensive infection — a severe skin infection called necrotizing fasciitis. We immediately called the surgeons and radiology suite for an imaging scan to confirm the diagnosis and treat her as quickly as possible.

Why is teamwork so essential?

Often nurses, junior residents, or midlevel providers such as physician assistants catch details attending doctors miss during brief histories and physicals. No matter who identifies the diagnosis or orders the correct test, we work as a team. We gather information as a team and compare the data together. The benefit of repeating a history or exam is that gaps close and the best care becomes clear.

A part of the history that was previously skipped is covered. A part of the exam that wasn’t done can be performed. Perhaps you’ll remember enlightening details you had previously forgotten to tell us. Or, as time ticks by, initially mild abdominal pain that offered a hazy clue progresses during repeat exams to severe abdominal pain, and now an imaging study can help make a final diagnosis.

When you’re a patient, it’s hard to wait. It's hard to repeat your story. We know it; we’ve been patients, too. But the system, while not perfect, is built to protect you from the impact of missed information. And in some hospitals, the systems we rely on help train future clinicians — the highly skilled doctors, nurses, and specialized practitioners who will help care for you and many others throughout the years to come.

Before going any further, here’s the main thing parents should know about swimming lessons: all children should have them.

Every day, about 11 people die from drowning in the United States. Swimming lessons can’t prevent all of those deaths, but they can prevent a lot of them. A child doesn’t need to be able to swim butterfly or do flip turns, but the ability to get back to the surface, float, tread water, and swim to where they can stand or grab onto something can save a life.

10 things parents should know about swimming lessons

As you think about swimming lessons, it’s important to know:

1.  Children don’t really have the cognitive skills to learn to swim until they are around 4 years old. They need to be able to listen, follow directions, and retain what they’ve learned, and that’s usually around 4 years old, with some kids being ready a little earlier.

2.  That said, swim lessons between 1 and 4 years old can be useful. Not only are some kids simply ready earlier, younger children can learn some skills that can be useful if they fall into the water, like getting back to the side of a pool.

3.  The pool or beach where children learn must be safe. This sounds obvious, but safety isn’t something you can assume; you need to check it out for yourself. The area should be clean and well maintained. There should be lifeguards that aren’t involved in teaching (since teachers can’t be looking at everyone at all times). There should be something that marks off areas of deeper water, and something to prevent children from getting into those deeper areas. There should be lifesaving and first aid equipment handy, and posted safety rules.

4.  The teachers should be trained. Again, this sounds obvious — but it’s not always the case. Parents should ask about how teachers are trained and evaluated, and whether it’s under the guidelines of an agency such as the Red Cross or the YMCA.

5.  The ratio of kids to teachers should be appropriate. Preferably, it should be as low as possible, especially for young children and new swimmers. In those cases, the teacher should be able to have all children within arm’s reach and be able to watch the whole group. As children gain skills the group can get a bit bigger, but there should never be more than the teacher can safely supervise.

6.  There should be a curriculum and a progression — and children should be placed based on their ability. In general, swim lessons progress from getting used to the water all the way to becoming proficient at different strokes. There should be a clear way that children are assessed, and a clear plan for moving them ahead in their skills.

7.  Parents should be able to watch for at least some portion. You should be able to see for yourself what is going on in the class. It’s not always useful or helpful for parents to be right there the whole time, as it can be distracting for children, but you should be able to watch at least the beginning and end of a lesson. Many pools have an observation window or deck.

8.  Flotation devices should be used thoughtfully. There is a lot of debate about the use of “bubbles” or other flotation devices to help children learn to swim. They can be very helpful with keeping children safe at the beginning, and helping them learn proper positioning and stroke mechanics instead of swimming frantically to stay afloat, but if they are used, the lessons should be designed to gradually decrease any reliance on them.

9.  Being scared of the water isn’t a reason not to take, or to quit, swimming lessons. It’s common and normal to be afraid of the water, and some children are more afraid than others. While you don’t want to force a child to do something they are terrified of doing, giving up isn’t a good idea either. Start more gradually, with lots of positive reinforcement. The swim teacher should be willing to help.

10.  Just because a child can swim doesn’t mean he can’t drown. Children can get tired, hurt, trapped, snagged, or disoriented. Even strong swimmers can get into trouble. While swimming lessons help save lives, children should always, always be supervised around water, and should wear lifejackets for boating and other water sports.

The Centers for Disease Control and Prevention website has helpful information on preventing drowning.

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