Monday, February 26, 2024

Ben and me

Dr. Vivien Thomas is a legend of cardiac care — here’s the pulse-pounding tale of the high school-educated heart surgeon

With his dreams of medical school dashed by the Great Depression, Tennessee carpenter Vivien Thomas became one of the world’s most influential cardiac surgeons.

Dr. Vivien Thomas was born with the skill to mend broken hearts.

Armed with the brain of a scientist and the hands of a craft carpenter, he stands today as one of the world’s most influential cardiac surgeons.

Thomas never attended medical school. He couldn’t even afford college.

But in 1944, he directed one of the landmark procedures in the history of heart medicine.

Thomas guided his mentor, Dr. Alfred Blalock, in the first successful operation to repair the heart of a baby suffering Tetralogy of Fallot – better known as blue-baby syndrome.

"Blalock knew what he had, and what he had was a Michael Jordan of surgery in his lab," said Dr. Koco Eaton, Thomas’ nephew, in a telephone interview with Fox News Digital.

Eaton is the team physician for the Tampa Bay Rays of Major League Baseball.

Dr. Blalock was the chief of surgery at Johns Hopkins University School of Medicine, one of the nation’s most renowned doctors.

Yet he entrusted his career, the future of cardiac surgery and the life of the 18-month-old baby to the direction of a former carpenter with a high-school diploma.

"What he had was a Michael Jordan of surgery in his lab."

Eaton said his "humble" uncle never discussed his career at the forefront of cardiac surgery.

He only learned of Thomas’ prestige when his uncle volunteered to drive him to his medical school interview at Johns Hopkins in the early 1980s.

Thomas’ portrait hung on the wall. He was greeted warmly, even reverently, by school staff.

Eaton grew up attending July 4th family cookouts at Thomas’ Baltimore, Maryland home.

Only after walking in the shadow of his uncle did Eaton realize there was something special about the man sweating over the grill on Independence Day.

"The tongs he used to flip the hot dogs and hamburgers were modified surgical clamps he designed himself," said Eaton.

Thomas had the audacity to build a better spatula.

He also had the talent to teach the world's best surgeons how to stitch new life into the dying hearts of infants.

Vivien Theodore Thomas was born on Aug. 29, 1910 to Willard Maceo and Mary Alice (Eaton) Thomas in Lake Providence or New Iberia, Louisiana.

He was raised in Nashville, Tennessee, graduating with honors from Pearl High School in 1929.

He worked as a carpenter and harbored dreams of attending college and then medical school.

The world had different ideas. The stock market crash of 1929 wiped out his college savings, Thomas wrote in his autobiography.

He instead found work as a research assistant for Dr. Blalock at Vanderbilt University School of Medicine.

He proved an intuitive scientist and surgeon.

"Thomas rapidly mastered complex surgical techniques and research methodology," the school writes in an online biography.

Because of "institutional racism," the institution admits today, "Thomas was classified, and paid, as a janitor, despite the fact that by the mid-1930s he was doing the work of a postdoctoral researcher in Blalock’s lab."

Still, Thomas’ genius could not be contained by title or numbers on a paystub.

Because of his mechanical aptitude, said Eaton, "he could take Blalock’s ideas and make them a reality."

German bombing raids over the United Kingdom in the early days of World War II, meanwhile, amplified the need to address a phenomenon known as Crush syndrome.

Crushing injuries to limbs set off a chain reaction in the body that caused heart failure.

Thomas "and Blalock did groundbreaking research into the causes of hemorrhagic and traumatic shock," Vanderbilt reports.

"This work later evolved into research on Crush syndrome and saved the lives of thousands of soldiers on the battlefields of World War II."

Blalock was offered the position of chief of surgery at his alma mater, Johns Hopkins, in 1941.

He insisted his gifted research partner make the move with him.

"Blalock and Thomas began experimental work in vascular and cardiac surgery, defying medical taboos against operating upon the heart," Vanderbilt adds.

Ellen Saxon was just 18 months old, suffering from a fatal heart defect commonly known as blue baby syndrome, when she was presented on a surgery table before Dr. Blalock.

It was Nov. 29, 1944, a landmark day in the history of heart surgery.

"Up to that day, most infants and children with Tetralogy of Fallot had in fact no hope for cure," Johns Hopkins writes in its online account of the event.

But Thomas had "perfected" the technique to repair the defective hearts, Eaton said, during hundreds of demonstrations and experiments he performed on dogs.

The exercises revealed that new devices were needed to make the surgery successful. Thomas conceived, designed and crafted them.

Among his innovations was a clamp of exact precision that allowed two tiny blood vessels to be sewn together.

"It was the first time you were sewing blood vessels together that are the size of angel pasta."

"The clamp had to stop the flow of blood, but not damage the delicate tissue," said Eaton.

The plan was for Dr. Blalock to practice on the animals using Thomas' techniques before operating on a human infant.

Baby Ellen’s condition quickly worsened. She was rushed into the operating room — Blalock leading the surgical team, Thomas observing from a gallery.

Eaton describes the dramatic events that followed.

"It’s a very complex surgery. It was the first time you were sewing blood vessels together that are the size of angel-hair pasta," the doctor said.

Dr. Blalock needed help from the top expert in the field.

"Blalock saw Thomas in the balcony and told him to come down and stand next to him. So Thomas comes down and stands behind and basically tells him, ‘Flip your hand this way, do the stitch the other way, come back with it this way.’"

Thomas had the skills and the knowledge they had yet to learn.

The research assistant, said Eaton, "literally walked Dr. Blalock through the entire surgery."

A Hall of Fame cast of heart doctors witnessed the medical miracle.

Dr. Helen Brooke Taussig, a pioneer of cardiac medicine, had brought the baby to Dr. Blalock's attention and assisted the procedure directed by the lab researcher. Chief resident Dr. William Longmire later helped found the UCLA School of Medicine.

And resident Dr. Denton Cooley entered medical history in 1969 with the first successful implant of an artifical heart in a human.

Thomas did not have the title and the pedigree of the others in the operating room.

But he had the skills and the knowledge they had yet to learn.

"Even if you’d never seen surgery before, you could do it because Vivien made it look so simple," Cooley said 45 years later in an interview with Washingtonian magazine.

The surgery caused an immediate sensation in the medical world and in popular media. But Blalock and Taussig got all the credit. The procedure was actually named the Blalock-Taussig Shunt.

The best surgeon in the room was in danger of being forgotten.

"He had a great mind and great hands and that is a rare combination," said Dr. Eaton of his uncle. "He was a genius."

Thomas finally received an honorary doctorate from Johns Hopkins in 1976, and joined the faculty as a surgery instructor that same year, before retiring in 1979.

"Today, in operating rooms all over the world, there are great surgeons performing life-saving surgical procedures who received their training from Vivien Thomas," Morehouse School of Medicine writes in an online testament.

Vivien Thomas suffered from pancreatic cancer and died on Nov. 26, 1985 in Baltimore. He was 75 years old.

In his later years, Dr. Thomas worked on his autobiography. "Partners of the Heart: Vivien Thomas and His Work with Alfred Blalock" was published soon after his death.

The acclaim he deserved has since come his way.

His book and dramatic story inspired HBO’s Emmy Award-winning film "Something the Lord Made" and the PBS documentary "Partners of the Heart."

"A lot of people say with pride today, ‘I was taught surgery by Vivien Thomas.’"

The lifesaving procedure he demonstrated under lifesaving pressure in 1944 has since been renamed the Blalock-Taussig-Thomas Shunt.

The operation has saved the lives of thousands of babies from what was once a death-sentence heart defect.

Thomas missed his chance to go to medical school; but fate apparently planned something more profound for him.

"He probably wouldn't have done all this work if he had attended medical school," said Dr. Eaton.

"Things worked out for him and for the betterment of mankind. We all benefited from his work."

The beaming nephew added, "A lot of people say with pride today ‘I was taught surgery by Vivien Thomas.’"

Sunday, February 25, 2024

Trisomy 18

The story of Kate Cox, a Texas mother of two, made national headlines in December when she was unable to obtain an abortion in her state after learning the baby she was carrying was diagnosed with what doctors said was a fatal genetic condition known as Trisomy 18 that occurs when there is an extra copy of the 18th chromosome, resulting in a range of potential abnormalities and difficulties. Doctors advised her that if she carried the baby to term, it could leave her infertile.

Despite the fact that the Texas law includes exceptions for a "life-threatening physical condition… or a serious risk of substantial impairment of a major bodily function," it does not include fetal anomalies. Cox's request for an abortion was denied by the Texas Supreme Court and she was forced to leave the state to have an abortion elsewhere.

Nebraska's legislature held a hearing on Thursday about a new bill that would add an exception for abortions in the state after 12 weeks in the case of a fatal fetal anomaly, a term used for babies considered "incompatible with life" outside the womb. The diagnosis and abortion, according to the proposal, would need to happen before 20 weeks of pregnancy, which is in line with Nebraska's previous 20-week abortion limit. 

Nebraska Senator Merv Riepe, who introduced the bill to the state legislature, told Fox News Digital that the aim of the legislation is "to fix" the current 12-week limit on elective abortions in Nebraska. 

"The legislation is allowing women who want-to-be-mothers and it is only after the 12-week limit that they discover they do not have a viable fetus," he said. "The determination the fetus is not viable recognizes the opinion of two physicians; with the diagnosis of the nonviable fetus, the mother has two choices- carry the nonviable fetus to full term or seek a medical abortion to terminate the nonviable pregnancy."

"The loss of a much-wanted pregnancy is heart-wrenching but may be necessary to preserve the health and life of the want-to-be-mother," he added. 

Lawmakers in Tennessee, which currently has a life at conception law, are also working to create a similar exception to the one proposed in Nebraska's that would allow abortions when it is believed the mother could become "sterile and unable to bear children" in the future if she carried the baby to term. 

Critics argue such bills would remove protections for babies with disabilities and allow children with fetal anomalies to be discriminated against and aborted even in late-term pregnancies. 

Beverly Jacobson, the mother of a 7-year-old girl with Trisomy 18 and Founder and President of Verity's Village, a nonprofit aimed at providing practical support for families who receive a life-limiting prenatal diagnosis for their babies, told Fox News Digital that oftentimes terms to describe fatal fetal anomalies, such as "incompatible with life," can be misleading. 

"My daughter Verity is nearly seven-years-old and there are hundreds - maybe even thousands - of babies, children, teens and adults in the United States like her who are living with Trisomy 18," she said. "These sons and daughters are in no way ‘incompatible with life’ as the medical community often labels them, and families and communities are stronger and better because of these children." 

"It's the unfortunate truth that many doctors push abortion to parents whose unborn children are diagnosed with a life-limiting condition," she added. "I hope lawmakers will do the compassionate thing by taking a stand for Verity and those like her who have Trisomy 18 or other disabilities so they will not be targeted to an even greater extent for painful, late-term abortion."

Kelsey Pritchard, the director of state public affairs at SBA Pro-Life America, told Fox News Digital that they feel for any mother who receives a difficult diagnosis for her unborn child, but criticized what she called the "abortion industry’s spin doctors" who "manipulate these stories to justify unlimited abortion and attack babies with disabilities."

"The abortion lobby is zealously trying to confuse the issue by conflating fetal anomaly diagnoses with life-threatening emergencies experienced by pregnant women," she said. "The truth is that most fetal anomaly conditions do not put mothers at greater risk, and in the instances when a woman is in danger, every pro-life law in the country allows doctors to act."

Dr. Tara Sander Lee, the vice president and director of life sciences at the Charlotte Lozier Institute, echoed this sentiment, arguing that many babies with a prenatal diagnosis die not because of their medical condition, but because of the "discrimination and denial of treatment from the medical establishment."

"Before birth, as many as 60% of babies diagnosed with trisomy 13 or 18 are aborted," she said. "When given the proper care, survival rates are much higher. A Japanese study shows that when babies with trisomy 18 received appropriate care and surgical interventions, 81.5% survived until discharge."

"Some babies with T13 or T18 who receive surgery to treat their heart problem have an even longer median survival of 15 and 16 years," she added. "Too often in America, we fail to accept every child as a gift, regardless of ability. The obvious truth is that abortion is not a cure or treatment for the child’s condition."

Nebraska Family Alliance Policy Director Nate Grasz said discriminating against people with disabilities is wrong and that "those with different abilities are worthy of life and should always receive proper medical care."

"The Nebraska Pro-Life Coalition urges lawmakers to take a stand for babies in the womb who are believed to have a life-limiting condition and their families," he said. "We urge senators to stop LB 1109 to protect these precious children – the most vulnerable among us – from abortion at the point when they can feel pain."

Jacobson detailed the experience she had when she received the Trisomy 18 diagnosis for her daughter in an interview with Fox News Digital. 

"I remember the doctor saying that I had an elevated risk for this baby I was carrying, to have a condition known as Trisomy 18 and I was floored," she said.

As a military wife and mother to eight children, when Jacobson found out she was pregnant, she said she was just trying to get her mind wrapped around the fact that she was going to have a ninth child when she got a phone call she said she would never forget. 

"I had never heard of this before... so I was trying to process this information," she added. "I kept pressing her [the doctor], ‘Well, what does this mean? What if our baby does have this?’ And I just remember it getting quiet on the other end of the phone, and then she said, ‘Well, if your baby does have this condition, most likely, most babies will pass in utero and, if they do make it to birth, they live maybe 5 to 15 days with pretty severe defects and difficulties.’" 

"We just immediately said, 'Okay, whatever happens, we really don't know what's going on, but we do know that we love this baby, whether there are complications or not, for us, abortion is simply not an option, and we just want information to know how we can be prepared," she said. "We made that pretty clear when we spoke to professionals, so we did not experience something that many families do."

But, Jacobson said conversations with two different professionals stuck out to her and while they didn't tell her she needed to abort her baby, they did tell her that "if she survives to birth, she will live a futile life." 

The first words out of one of her doctor's mouth at a consultation were: "So you're here to talk about your retarded daughter," which Beverly said left her stunned. 

"The head of the department at the university hospital opened the conversation talking about my unborn daughter in this manner and went on to say that if she were to survive, she would live a futile life," she said. "That's a direct quote, a futile life. Those words still ring, I can still hear that, my body still reacts, I have a visceral reaction when I think about that meeting with him." 

"He said that she would be a drain on the family mentally, emotionally and financially," she added. "None of that has come to pass. I didn't know that was coming. I wasn't prepared to have to advocate for my daughter in that moment, because I was just not expecting a medical professional to speak to me in those terms when I was there to get information about what our daughter might need if she were to be born alive, if she were to overcome the statistics."

After receiving the diagnosis, Beverly said that for the first 4 to 6 weeks she and her husband were "actually preparing to bury" their daughter.  

"We were making plans for what we would do for a memorial service, where we would take her little body, just conversations that you do not expect to be having as parents when you are expecting a little baby," she said. "My heart was crushed, I was dealing with depression, severe anxiety, and I had these other children to care for," but "about a month and a half after receiving the diagnosis, when we started to get connected with online support groups, and I began to see that actually there are some babies living, not just babies, children, even teenagers, even some young adults," living with Trisomy 18. 

Beverly said the medical professionals she spoke with continually made insinuations that she and her family would not have a quality of life if they chose to go to term with their disabled child.  

"I've known many people with disabilities and I can't imagine not having known them and having had their influence in my life and just their perspective," she said. "So as much as it was a fearful experience and alarming to think that I would have a child with significant needs, I began to have hope that we could meet her alive."

Beverly and her husband have since started Verity's Village, named after their daughter, which serves hundreds of families with children who have Trisomy 18 and other similar genetic conditions.

"Now that we have a nonprofit serving families in our position, we know we hear from almost all of them that abortion is presented as the logical next step once you get a diagnosis, I'm very grateful that was not brought up," she said.

"It's a sensitive topic. I understand that," Beverly said. "I know it's so controversial."

"Obviously she was born alive, we did get to bring her home from the hospital," she said. "In a sense, we were a success story because she lived and people didn't expect her to live, but really, bringing her home was the beginning of a journey."

"When we realized how difficult that journey was and I was in the community talking to families, my heart was drawn to these mamas that were given a diagnosis and they were so scared and so overwhelmed, hearing nothing but dire predictions of what would happen to their baby," she said. "Would they live, would they not live, I was stunned. I even heard of a mom who, her doctor scheduled her abortion before she even knew about the diagnosis."

"For me, the pregnancy part was so hard," she added. "I'm a planner, I like to know what's coming ahead of time and not knowing whether she would be born alive, what our family dynamics would look like if we brought her home, that was a very anxious time for me. So I found myself wanting to support these moms."

Beverly said that for those reasons, Verity's Village was born and has been operating for almost three years, helping moms understand that they have other options besides terminating their pregnancy. 

She also said she would like to see the term "incompatible with life" erased altogether and instead replaced with "life limiting diagnosis because there are some limitations for these children, these babies, and yes, it is true that many do pass away in utero," but "we certainly didn't expect to have almost seven years with her."

"Verity has given us so much," Beverly said. "She is non-verbal. She's non-ambulatory. She doesn't do for the family like my other kids can cook and clean and help… But you know what? She doesn't have to do a thing. She is her own self and brings us joy and delight and my kids love her fiercely."

"They are growing hearts of compassion, they're learning to serve others in a way that I don't know how we would have given them that opportunity, to put others before self, and to look for others' needs if they hadn't lived it day in and day out with their little sister."

Coprolalia and job discrimination

 Courtesy of Dt. Louis Offen

Thursday, February 22, 2024

Alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease

Dornelles AD, Junges APP, Krug B, Gonçalves C, de Oliveira Junior HA and Schwartz IVD (2024) Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis. Front. Pediatr. 12:1310317. doi: 10.3389/fped.2024.1310317

Introduction: Pompe disease (PD) is a glycogen disorder caused by the deficient activity of acid alpha-glucosidase (GAA). We sought to review the latest available evidence on the safety and efficacy of recombinant human GAA enzyme replacement therapy (ERT) for infantile-onset PD (IOPD).

Methods: We systematically searched the MEDLINE (via PubMed) and Embase databases for prospective clinical studies evaluating ERT for IOPD on pre-specified outcomes. Meta-analysis was also performed.

Results: Of 1,722 articles identified, 16 were included, evaluating 316 patients. Studies were heterogeneous and with very low certainty of evidence for most outcomes. A moderate/high risk of bias was present for most included articles. The following outcomes showed improvements associated with alglucosidase alfa, over natural history of PD/placebo, for a mean follow-up of 48.3 months: left ventricular (LV) mass {mean change 131.3 g/m2 [95% confidence interval (CI) 81.02, 181.59]}, time to start ventilation (TSV) [HR 0.21 (95% CI: 0.12, 0.36)], and survival [HR 0.10 (95% CI: 0.05, 0.19)]. There were no differences between the pre- and post-ERT period for myocardial function and psychomotor development. Adverse events (AEs) after ERT were mild in most cases.

Conclusion: Our data suggest that alglucosidase alfa potentially improves LV mass, TSV, and survival in IOPD patients, with no important safety issues.

Wednesday, February 21, 2024


Deep brain stimulation for depression

Emily Hollenbeck lived with a deep, recurring depression she likened to a black hole, where gravity felt so strong and her limbs so heavy she could barely move. She knew the illness could kill her. Both of her parents had taken their lives.

She was willing to try something extreme: Having electrodes implanted in her brain as part of an experimental therapy.

Researchers say the treatment —- called deep brain stimulation, or DBS — could eventually help many of the nearly 3 million Americans like her with depression that resists other treatments. It’s approved for conditions such as Parkinson’s disease and epilepsy, and many doctors and patients hope it will become more widely available for depression soon.

The treatment gives patients targeted electrical impulses, much like a pacemaker for the brain. A growing body of recent research is promising, with more underway — although two large studies that showed no advantage to using DBS for depression temporarily halted progress, and some scientists continue to raise concerns.

Meanwhile, the Food and Drug Administration has agreed to speed up its review of Abbott Laboratories’ request to use its DBS devices for treatment-resistant depression.

“At first I was blown away because the concept of it seems so intense. Like, it’s brain surgery. You have wires embedded in your brain,” said Hollenbeck, who is part of ongoing research at Mount Sinai West. “But I also felt like at that point I tried everything, and I was desperate for an answer.”

Hollenbeck suffered from depression symptoms as a child growing up in poverty and occasional homelessness. But her first major bout happened in college, after her father’s suicide in 2009. Another hit during a Teach for America stint, leaving her almost immobilized and worried she’d lose her classroom job and sink into poverty again. She landed in the hospital.

“I ended up having sort of an on-and-off pattern,” she said. After responding to medication for a while, she’d relapse.

She managed to earn a doctorate in psychology, even after losing her mom in her last year of grad school. But the black hole always returned to pull her in. At times, she said, she thought about ending her life.

She said she’d exhausted all options, including electroconvulsive therapy, when a doctor told her about DBS three years ago.

“Nothing else was working,” she said.

She became one of only a few hundred treated with DBS for depression.

Hollenbeck had the brain surgery while sedated but awake. Dr. Brian Kopell, who directs Mount Sinai’s Center for Neuromodulation, placed thin metal electrodes in a region of her brain called the subcallosal cingulate cortex, which regulates emotional behavior and is involved in feelings of sadness.

The electrodes are connected by an internal wire to a device placed under the skin in her chest, which controls the amount of electrical stimulation and delivers constant low-voltage pulses. Hollenbeck calls it “continuous Prozac.”

Doctors say the stimulation helps because electricity speaks the brain’s language. Neurons communicate using electrical and chemical signals.

In normal brains, Kopell said, electrical activity reverberates unimpeded in all areas, in a sort of dance. In depression, the dancers get stuck within the brain’s emotional circuitry. DBS seems to “unstick the circuit,” he said, allowing the brain to do what it normally would.

Hollenbeck said the effect was almost immediate.

“The first day after surgery, she started feeling a lifting of that negative mood, of the heaviness,” said her psychiatrist, Dr. Martijn Figee. “I remember her telling me that she was able to enjoy Vietnamese takeout for the first time in years and really taste the food. She started to decorate her home, which had been completely empty since she moved to New York.”

For Hollenbeck, the most profound change was finding pleasure in music again.

“When I was depressed, I couldn’t listen to music. It sounded and felt like I was listening to radio static,” she said. “Then on a sunny day in the summer, I was walking down the street listening to a song. I just felt this buoyancy, this, ‘Oh, I want to walk more, I want to go and do things!’ And I realized I’m getting better.”

She only wishes the therapy had been there for her parents.

The road to this treatment stretches back two decades, when neurologist Dr. Helen Mayberg led promising early research.

But setbacks followed. Large studies launched more than a dozen years ago showed no significant difference in response rates for treated and untreated groups. Dr. Katherine Scangos, a psychiatrist at the University of California, San Francisco, also researching DBS and depression, cited a couple of reasons: The treatment wasn’t personalized, and researchers looked at outcomes over a matter of weeks.

Some later research showed depression patients had stable, long-term relief from DBS when observed over years. Overall, across different brain targets, DBS for depression is associated with average response rates of 60%, one 2022 study said.

Treatments being tested by various teams are much more tailored to individuals today. Mount Sinai’s team is one of the most prominent researching DBS for depression in the U.S. There, a neuroimaging expert uses brain images to locate the exact spot for Kopell to place electrodes.

“We have a template, a blueprint of exactly where we’re going to go,” said Mayberg, a pioneer in DBS research and founding director of The Nash Family Center for Advanced Circuit Therapeutics at Mount Sinai. “Everybody’s brain is a little different, just like people’s eyes are a little further apart or a nose is a little bigger or smaller.”

Other research teams also tailor treatment to patients, although their methods are slightly different. Scangos and her colleagues are studying various targets in the brain and delivering stimulation only when needed for severe symptoms. She said the best therapy may end up being a combination of approaches.

As teams keep working, Abbott is launching a big clinical trial this year, ahead of a potential FDA decision.

“The field is advancing quite quickly,” Scangos said. “I’m hoping we will have approval within a short time.”

But some doctors are skeptical, pointing to potential complications such as bleeding, stroke or infection after surgery.

Dr. Stanley Caroff, an emeritus professor of psychiatry at the University of Pennsylvania, said scientists still don’t know the exact pathways or mechanisms in the brain that produce depression, which is why it’s hard to pick a site to stimulate. It’s also tough to select the right patients for DBS, he said, and approved, successful treatments for depression are available.

“I believe from a psychiatric point of view, the science is not there,” he said of DBS for depression.

Hollenbeck acknowledges DBS hasn’t been a cure-all; she still takes medicines for depression and needs ongoing care.

She recently visited Mayberg in her office and discussed recovery. “It’s not about being happy all the time,” the doctor told her. “It’s about making progress.”

That’s what researchers are studying now — how to track progress.

Recent research by Mayberg and others in the journal Nature showed it’s possible to provide a “readout” of how someone is doing at any given time. Analyzing the brain activity of DBS patients, researchers found a unique pattern that reflects the recovery process. This gives them an objective way to observe how people get better and distinguish between impending depression and typical mood fluctuations.

Scientists are confirming those findings using newer DBS devices in a group of patients that includes Hollenbeck.

She and other participants do their part largely at home. She gives researchers regular brain recordings by logging onto a tablet, putting a remote above the pacemaker-like device in her chest and sending the data. She answers questions that pop up about how she feels. Then she records a video that will be analyzed for things such as facial expression and speech.

Occasionally, she goes into Mount Sinai’s “Q-Lab,” an immersive environment where scientists do quantitative research collecting all sorts of data, including how she moves in a virtual forest or makes circles in the air with her arms. Like many other patients, she moves her arms faster now that she’s doing better.

Data from recordings and visits are combined with other information, such as life events, to chart how she’s doing. This helps guide doctors’ decisions, such as whether to increase her dose of electricity – which they did once.

On a recent morning, Hollenbeck moved her collar and brushed her hair aside to reveal scars on her chest and head from her DBS surgery. To her, they’re signs of how far she’s come.

She makes her way around the city, taking walks in the park and going to libraries, which were a refuge in childhood. She no longer worries that normal life challenges will trigger a crushing depression.

“The stress is pretty extreme at times, but I’m able to see and remember, even on a bodily level, that I’m going to be OK,” she said.

“If I hadn’t had DBS, I’m pretty sure I would not be alive today.”

Monday, February 19, 2024

Sudden death syndrome

Sudden death syndrome (SDS) is a broad term that can describe any sudden, unexpected death from natural causes. It is not a formal condition or diagnosis and does not necessarily indicate a specific medical condition.

Sudden death syndrome (SDS) is an umbrella term for many biological scenarios leading to quick-onset and unforeseen mortality. The person involved often has little to no warning signs of illness. Even after death, an autopsy may not reveal obvious abnormalities.

This article explores what SDS is, its causes, and whether a person can prevent it. It also looks at commonly asked questions about SDS-related conditions.

How do doctors define SDS?

SDS is not a formal diagnosis: no set criteria universally define sudden death.

However, a 2023 article suggests that many experts have adopted the World Health Organization’s (WHO) definition.

It states that SDS is sudden, unexpected death from natural causes witnessed within one hour of symptom onset. If not witnessed, death occurring within 24 hours of someone seen alive and symptom-free is considered SDS.

Vs. sudden cardiac death (SCD)

People may use SDS interchangeably with sudden cardiac death (SCD), also known as sudden cardiac arrest (SCA).

SCD describes death caused by loss of heart function, occurring within one hour of any cardiovascular cause.

SDS and SCD have become synonymous. While many different diseases can result in a fatal chain reaction in the body, SCD is a common cause.

According to a 2022 comprehensive review, cardiovascular causes account for up to 73% of sudden deaths. This is compared with other conditions such as asthma, epilepsy, and intracerebral hemorrhage.

Are there symptoms or warning signs of SDS?

There is no standardized list of symptoms in SDS. Since SDS is not a single illness or disease, symptoms, if any, can vary significantly depending on the underlying cause.

For example, in the case of SCD, warning signs may be similar to any heart complication. Almost half of people report no symptoms of SCD. However, if symptoms are present, they may include:

chest discomfort
shortness of breath

Warning signs of other conditions that can lead to SDS may be subtle. For example, a person could mistake cerebral aneurysm symptoms for ordinary discomfort, such as a stiff neck or strong headache.

What causes SDS?

Numerous known and unknown processes in the body can contribute to SDS. However, cardiovascular disease plays a major role overall.

Sudden cardiac death (SCD) is the most common cause of SDS. It is a widely inclusive term that can describe a variety of cardiovascular events, such as:

sudden arrhythmia death syndromes (SADS), genetic heart conditions that alter the heart’s electrical activity, potentially causing sudden cardiac arrest
heart attack
coronary spasm
anomalous coronary origin, a coronary artery that has an abnormality
Brugada syndrome, a rare, inherited condition that can lead to irregular heartbeats
long or short QT syndrome, a condition that affects the heartbeat
myocarditis, inflammation of the heart
aortic stenosis, narrowed aortic valves

Coronary artery disease and SADS are among the most common underlying causes. Coronary artery disease may be responsible for as many as 80% of SCD deaths. According to a large-scale cohort study, SADS accounted for 53% of reviewed SCD cases.

SDS is not limited to cardiovascular events. Examples of non-cardiac conditions that can also lead to sudden death include:

pulmonary embolism, a blockage in the pulmonary arteries
brain hemorrhage
sudden infant death syndrome (SIDS)
brain aneurysm
anaphylaxis, a severe allergic reaction
hypertensive crisis, a sudden and severe increase in blood pressure
cerebral abscesses, an abscess in the brain
meningitis, inflammation of the lining that surrounds the brain and spinal cord

In many cases, the causes of SDS can never be explained. When this happens in adults, it may be referred to as sudden adult death syndrome. Similarly, unexplained infant mortality is referred to as sudden infant death syndrome.

What are the risk factors for SDS?

Due to the number of conditions that can lead to SDS, individual risk factors vary significantly.

Because SCD is the most common cause of SDS, its risk factors are among the most well-known. These include the general risk factors for adverse cardiac events, such as:

heavy alcohol consumption
tobacco use
physical inactivity
high blood pressure
living with a chronic disease, such as diabetes or kidney disease
a family history of SCD
substance misuse

Some causes of SDS can be heritable, or passed down through families. SADS, for example, are conditions passed down from parent to child. If a parent lives with a SADS condition, each child has a 50% chance of inheriting that condition.

Is prevention possible?

It may be possible to prevent SDS through chronic disease management and lifestyle changes.

For example, people at high risk of cardiovascular events can reduce their risk with lifestyle modifications and medical treatments.

Proactive disease management can also be important in preventing SDS.

For someone living with a life-threatening allergy, carrying an emergency epi-pen is one way to prevent sudden death. Similarly, for certain asthma conditions, an emergency inhaler may save a person’s life.

Not all sudden deaths can be prevented, however. Some conditions in SDS might not have modifiable risk factors, such as those influenced by genetics.

Frequently asked questions

Below are commonly asked questions about sudden death syndrome (SDS) and SCD.

How common is SDS?

Sudden deaths in the United States may account for between 150,000 and 450,000Trusted Source deaths annually.

Is SDC painful?

SDC may be accompanied by pain or discomfort immediately before heart function stops.

What is the most common underlying condition of SCD?

Coronary artery disease is one of the most common underlying conditions in SCD. It accounts for approximately 80%Trusted Source of sudden cardiac arrests.


SDS is not a formal diagnosis. It is an umbrella term that describes unexpected, sudden, natural causes of death.

SCD is the most common cause of SDS. However, other conditions can also cause SDS, such as epilepsy, cerebral hemorrhage, and asthma.

It may be possible to reduce a person’s chances of experiencing SDS with certain methods. These include making lifestyle modifications and treating underlying chronic diseases.