For over 15 years, Dr Anthony Shum, a pulmonologist at the University of California, San Francisco has been studying a rare genetic disorder called the COPA Syndrome. It stands for coatomer subunit alpha and is a rare, inherited disorder that affects the lungs, joint, and kidney. The National Organization for Rare Disorder also notes that it is a genetic autoimmune disorder that is caused by mutations in the COPA gene. This disease affects families unpredictably—some individuals with the mutation develop severe lung damage early in life, while others remain completely healthy. Now, Shum’s team has discovered a protective genetic variant that may offer new hope for treatment.

A Breakthrough

Researchers found that some relatives of COPA Syndrome patients stayed healthy despite carrying the same COPA gene mutation that causes the disease. The key difference? These unaffected individuals had a protective version of another gene called HAQ-STING.

When scientists introduced HAQ-STING into diseased lung cells from COPA patients, the cells returned to a balanced state, suggesting that this gene could be used as a therapy.

“We really think HAQ-STING could be a gene therapy tool and a step toward a cure,” said Shum, whose findings were published in the Journal of Experimental Medicine.

Families Who Solved The Mystery

Shum’s journey into COPA Syndrome research began in 2011 when he treated a young woman, Letasha, who had severe lung bleeding. Her mother, Betty Towe, mentioned that Letasha’s sister, Kristina, had suffered from similar symptoms. Over the years, Betty had taken both daughters on a four-hour trip to UCSF for treatment. After tracing their family history, Shum discovered that their distant relatives in Texas and Oakland also had lung problems and arthritis. In 2015, Shum, along with scientists from Baylor College of Medicine and Texas Children’s Hospital identified the COPA gene mutation. They realized that it was the common factor behind the illness. However, only some of the 30 individuals with the mutation actually developed symptoms, leaving a major question unanswered.

The Domino Effect

It was established that it occurs when a mutated COPA gene causes another gene STING to go overdrive. The STING that helps fight infections in COPA patients, remain permanently active, which leads to chronic inflammation that damages the lungs, kidneys, and joints. In 2020, while studying STING’s role in the disease, researchers discovered a key variation: HAQ-STING. This version of STING, present in about one-third of the population, appeared to neutralize the harmful effects of the COPA mutation.

To confirm their theory, the scientists needed both affected and unaffected family members to participate in the testing. Letasha, Kristina and Betty immediately volunteered. The researchers then analyzed DNA samples from 26 COPA patients and their healthy relatives. They also conducted CT scans and blood tests to ensure that unaffected members did not have any hidden symptoms. When the findings were all clear, it was revealed that all the healthy individuals had HAQ-STING, while none of the COPA patients did. This was the first known case of a common gene variant completely protecting against a severe genetic disease.

Encouraged by this discovery, researchers tested HAQ-STING’s effects in a lab setting. They introduced it into diseased lung cells from COPA patients, and the cells returned to normal function.

Way Ahead

Shum believes HAQ-STING could lead to game-changing treatments, including:

• Prenatal gene therapy for babies diagnosed with COPA Syndrome before birth
• Aerosol delivery of HAQ-STING for adults, directly targeting the lungs

Before publishing their findings, Shum called Betty with the news—her own HAQ-STING gene had protected her from the disease. He also informed Letasha and Kristina, who were overwhelmed with relief and joy.

“We always believed Dr. Shum would get to the bottom of it,” said Letasha. “This discovery is going to change lives.”

For someone who has been hospitalized with heart failure, going home from the hospital can feel like a turning point. The breathlessness may have eased, the swelling may have reduced, and normalcy returns slowly. But feeling better does not mean that the condition has been cured. However, heart failure is a chronic and progressive condition in which the heart is unable to pump blood effectively enough to meet the body's needs.

The course of heart failure can include periods when patients feel stable and periods when their condition worsens. A worsening episode may require hospitalization or additional treatment, but even after the immediate episode has been stabilized and the patient is discharged, the underlying heart failure remains. The months following discharge from the hospital are a crucial period, when continued treatment, follow-up and attention to changes in symptoms can make a meaningful difference.

Why The Risk Remains After Discharge

People who have recently experienced a heart failure episode are at higher risk of their condition worsening again. The period after discharge should therefore not be viewed simply as a return to normal life, but as a phase when continued monitoring, follow-up and treatment remain important.

The risk is reflected in the outcomes after discharge. Within one year, studies have reported a heart failure readmission rate of nearly 30%, while all-cause mortality was 37%. This highlights why the months following hospitalization require particular attention, even when symptoms have improved.

A heart failure hospitalisation is also an important marker of future outcomes. In patients with recurrent multiple heart failure hospitalizations, the risk of cardiovascular death and all-cause mortality is six times higher in patients with four or more heart failure hospitalisations compared with patients with no heart failure hospitalizations.

This makes preventing another worsening episode an important part of long-term heart failure management.

For example, a patient may return home after treatment feeling less breathless and able to resume a daily routine. If, after some time, the same person begins to struggle with a regular walk, develops increasing ankle swelling, or takes longer to recover from everyday activity, these changes should not be ignored. They may indicate that heart failure is worsening again and should prompt a timely conversation with the doctor.

Continued Care Can Help Reduce Future Risk

Recognizing this period of increased vulnerability is not intended to create fear, but to encourage timely care. Patients should take their medicines exactly as prescribed and keep their follow-up appointments. Patients and their families should also be aware of the warning signs that indicate the condition may be worsening. This includes symptoms such as breathlessness; swelling of the legs or ankles; reduced ability to exercise; lack of appetite; nausea; increased heart rate; weight gain from fluid build-up; dizziness; or lightheadedness.

If familiar symptoms return, become more frequent or severe, or begin to affect everyday activities, the doctor should be consulted promptly. Regular follow-ups also provide an opportunity to assess whether the condition remains stable and treatment continues to meet the patient's needs.

Even when patients are stable with current treatment, the risk of hospitalization or serious cardiovascular outcomes can remain. Timely and appropriate treatment, including newer therapeutic approaches where suitable, can help reduce this risk.

Hospitalization following heart failure should not be seen as an episode to recover from, but as a reminder of the need for continued care in the months to follow. Patients and families who understand the warning signs, stay consistent with treatment and follow-up, and consult with the doctor regularly are better placed to manage the risk.

By Dr KV Srikanth, Consultant Interventional Cardiologist, KIMS Hospital, Electronic City, Bengaluru

Chronic pelvic pain in adulthood may have warning signs that appear much earlier in life. A new study suggested that reproductive and gynecological health problems during adolescence could identify people at higher risk years before chronic pain develops.

The study, carried by The Lancet Regional Health – Americas, analysed health data of nearly half a million people in Ontario, Canada, following them from adolescence into adulthood.

The researchers found that after 10 years into adulthood, chronic pelvic pain affected 28% of people who had sought healthcare for gynecological or reproductive health problems during their teenage years, compared to about 15% among those without such health issues during adolescence.

In a nutshell, the rate of chronic pelvic pain was 41% higher among people who had earlier gynecological or clinical visits due to reproductive issues.

Findings Just Not Restricted To Pelvic Pain

Also read: High BP in Pregnancy Linked to 42,000 Maternal Deaths, 500,000+ Stillbirths, Newborn Deaths: WHO

The researchers used population-based health data held by ICES and followed people from adolescence into adulthood. The analysis also considered other health problems and healthcare use during adolescence.

The findings also indicated that teenagers who had sought care for gynecological or reproductive problems were also more likely to have gastrointestinal problems, mental health conditions and chronic pain in other parts of the body.

“We asked a simple question: Were there signs, years earlier, that someone was on a path toward chronic pelvic pain? This study shows that indeed, the gap between those affected by CPP was already visible early in adulthood and grew over time,” said lead author Shay Freger, a PhD candidate in McMaster University's Department of Obstetrics and Gynecology.

What Is Chronic Pelvic Pain?

Also read: Childhood Fitness Linked To Lower Risk Of Depression In Adulthood: 30-Year Study

Chronic pelvic pain refers to persistent pain in the lower abdomen or pelvic region that can continue for months or years.

It can affect everyday life, education, work, relationships and mental health. Researchers also identified that pelvic and menstrual symptoms during adolescence can sometimes be dismissed as a normal part of growing up, even when the pain is severe or persistent. This could discourage a person to seek medical help.

The findings suggest that these symptoms could offer doctors and healthcare experts a key opportunity to identify patterns of certain health conditions earlier in life.

“What is important about this study is that the warning signs were not limited to reproductive health alone,” said Mathew Leonardi, senior author and associate professor in McMaster’s Department of Obstetrics and Gynecology.

“It suggests that adolescent menstrual and pelvic health may be part of a broader health picture that deserves earlier attention and more integrated care.”

Not A Cause-And-Effect Relationship

The study just noticed an association, but it does not establish that adolescent gynecological or reproductive problems are the direct reasons behind chronic pelvic pain decades later in life.

Instead, the researchers say the findings indicate that healthcare providers may already be seeing patterns during adolescence that could be linked with greater vulnerability to chronic pain and other disorders in adulthood.

The researchers also said that recognising these patterns earlier could help shift pelvic pain care from treating to identifying and addressing problems before they become persistent.

As pollution season creeps back in Delhi, N95 masks outdoors and air purifiers are once again most likely to become the primary go-to protective measures for the public.

Both are known to lower exposure to harmful particles significantly, but neither can completely nullify the health risks of polluted air. So before you invest in an air purifier or buy a dozen N95 masks, understand how much you will be protected as you step out during smog everyday.

How Much Protection Does An N95 Mask Offer?

Also read: Delhi Pollution: What Are The Different Types Of Anti-Pollution Masks?

A properly fitted N95 respirator can filter at least 95% of airborne particles under standard environment. That makes it substantially more protective against fine particulate matter like PM2.5 than regular surgical or cloth masks.

But just wearing an N95 does not mean you are breathing toxins-free air. Its effectiveness depends heavily on fit. Gaps around the nose, cheeks or chin can let polluted air to bypass the filter.

An N95 also does not protect equally against every pollutant. It is designed primarily to filter particles, not gases like nitrogen dioxide or ozone. So if you spend most of your time outdoors during severe pollution, wear a well-fitted, certified respirator to reduce exposure.

Protection from PM2.5 is key as these particles are small enough to seep deep into your lungs and, in some circumstances, even cross over to enter the bloodstream. Long-term exposure to PM2.5 has been associated with cardiovascular disease, respiratory disease and other serious health problems.

Is An Indoor Air Purifier Enough To Tackle Outdoor Pollution?

The effectiveness of an air purifier depends significantly on the purifier, the size of the room and how it is used. A purifier equipped with a HEPA filter can remove fine particles from indoor air. When outdoor PM2.5 levels are high and polluted air enters homes through windows, doors and ventilation systems, this could be one of the best ways to protect yourself.

However, simply switching on a purifier in a large room does not guarantee clean air. The purifier needs to have sufficient clean air delivery rate (CADR) for the size of the room.

Keeping doors and windows closed during periods of extreme outdoor pollution can also help reduce the amount of polluted air entering. Filters need to be replaced according to the manufacturer's recommendations because a heavily loaded filter can reduce performance.

Also read: Delhi Air Pollution Is Back: What Days Of Poor AQI Can Do to Your Lungs

One of the limitations is that HEPA filtration primarily addresses particles. A purifier needs additional technologies, like an activated-carbon filter, to reduce some gaseous pollutants, and even then it cannot remove every pollutant completely.

For Delhi's pollution season, these two measures address different exposure issues. N95 masks help reduce inhalation of polluted particles while outdoors. Air purifiers help lower indoor concentrations of particulate matter. Using both can therefore provide greater protection than relying on either measure alone.

People with asthma, COPD, heart disease or other respiratory and cardiovascular conditions, as well as children and older adults, can be more vulnerable to the effects of air pollution.

Even healthy people can experience symptoms like coughing, throat irritation, wheezing, eye irritation and breathing discomfort when pollution levels rise.