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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.
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.
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.
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.
Shum believes HAQ-STING could lead to game-changing treatments, including:
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.”
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When was the last time you took the stairs without thinking twice, walked to the market without needing a break, or said yes to an outing without worrying about how tiring it might be?
Sometimes, the first sign that something has changed with your health is not a new symptom, but an activity you have quietly given up. A morning walk gets shorter, a flight of stairs calls for a pause, or a favourite weekend outing starts to feel like too much effort. It is easy to put these changes down to age, but they may be telling you something worth investigating.
A simple “activity audit” can help you connect the dots. Instead of asking only whether you feel unwell, compare what you could comfortably do a few years ago with what you can manage today.
Could you walk the same distance without stopping? Have stairs that once felt routine become difficult? Have you cut back on morning walks, stopped playing a favourite sport or become less inclined to leave the house? Do everyday activities such as grocery shopping, gardening or household chores require more effort than before?
These questions are particularly relevant after age 45, when declining stamina may be attributed entirely to ageing. However, a persistent change in exercise tolerance or everyday activity should not automatically be dismissed as a normal consequence of ageing.
Breathlessness during activity, unusual fatigue, dizziness or light-headedness, swelling in the feet or ankles, and palpitations can occur in people with heart valve disease. These symptoms can also have other causes, but if they are persistent, unexplained or worsening, they warrant discussion with a healthcare professional.
Heart valve disease can develop gradually, allowing people to adapt their routines without recognising the underlying problem. Someone who becomes breathless while walking may take shorter routes, while another person may avoid stairs or social activities that involve physical exertion. Eventually, these adjustments can become part of daily life, making it harder to recognise a change in health.
Looking back can help restore that perspective. A simple three-part comparison offers a useful starting point: What could I do before? What can I do now? What changed in between?
Family members can also help identify differences that an older relative may have overlooked. A parent who once travelled regularly may begin avoiding trips, while someone who enjoyed gardening, shopping or meeting friends may increasingly prefer to stay home. These observations cannot establish a diagnosis, but they can prompt a timely conversation about health.
If breathlessness, fatigue, dizziness, swelling, or palpitations are new, persistent, or interfering with everyday activities, consulting a doctor can help determine the cause. Depending on the symptoms and medical history, the evaluation may include a physical examination and an echocardiogram, commonly called a 2D echo. This ultrasound test helps assess the heart's structure and how its valves function.
An activity audit is not a diagnostic test. Its purpose is to help people recognise changes that might otherwise go unnoticed and decide when to seek medical advice.
Growing older does not necessarily mean giving up the activities that make everyday life enjoyable. Paying attention to changes in physical ability can help distinguish an expected adjustment from a potential health concern.
Start your activity audit today. Think about three activities you could comfortably do a few years ago but now find difficult, tiring or have stopped altogether. Note when these changes began and whether you have experienced symptoms such as breathlessness, unusual fatigue, dizziness or palpitations. If you notice a persistent or unexplained decline, schedule a consultation with your doctor and discuss whether further evaluation, including an echocardiogram, may be appropriate.
The question is simple: What have you stopped doing, and could your health be the reason? Taking that first step can help you understand the change and decide what to do next.
(By Dr. Sumanto Mukhopadhyay, a Senior Consultant Interventional and Structural Cardiologist, Apollo Hospital, Kolkata)
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In a shocking viral trend, women in Kenya are reportedly inserting cetirizine, an allergy medication, into their vaginas in an attempt to achieve vaginal tightening and enhance sexual pleasure.
The practice has prompted warnings from pharmacists and health authorities, who caution that the drug is not meant for vaginal use and could pose health risks.
The Pharmaceutical Society of Kenya (PSK) has warned against the practice, stating that the medicine is not intended for vaginal use.
"Cetirizine is an allergy medicine, taken by mouth. It is not approved or tested for any other purpose, and definitely not for vaginal use," the PSK said in a statement issued on Thursday.
It advised women who had tried the practice to stop and seek medical attention if they experienced pain, bleeding, burning, itching, unusual discharge or fever.
Posts circulating on Kenyan social media, particularly TikTok, claim that cetirizine can reduce vaginal moisture and create a sensation of tightness during sex, BBC reported.
The claims have sparked online debate, with some users endorsing the practice and others questioning its safety.
The trend has also reportedly increased demand for the drug, with local media reporting price rises and shortages at some pharmacies in Nairobi.
Cetirizine is an oral antihistamine used to relieve allergy symptoms such as sneezing, runny nose, itchy eyes and hives.
Kenya's Pharmacy and Poisons Board (PPB) clarified in a public safety alert issued on November 4 that cetirizine is used to treat allergic rhinitis and urticaria. It is intended for oral use and should be taken only as directed by a healthcare professional.
The Board stressed that "the drug is not approved for vaginal use or tightening and that no established scientific evidence supports such claims".
On the other hand, inserting the tablets may cause vaginal irritation, burning, soreness, pain and discomfort. It may also disrupt the vagina's natural protective environment and increase infection risk.
The PSK cautioned against confusing dryness with tightening.
"Dryness is not tightness... instead, it may increase friction, discomfort, and the risk of tissue injury," it said.
Taking more than the recommended cetirizine dose can also cause excessive sleepiness, dizziness, restlessness, confusion, shaking, a rapid heartbeat and difficulty passing urine, the PPB warned.
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Kenya's health ministry had also flagged the trend a day earlier. Ouma Oluga, a senior health official, expressed concern that social media users were dismissing medical warnings without considering the consequences, the BBC reported.
He suggested that authorities could introduce a system to monitor medicine distribution and purchases to identify potential misuse. No formal decision has been announced.
The PSK said it had received reports of increased cetirizine demand, rising prices and shortages at some pharmacies.
It urged retailers not to exploit the trend, warning that people who need the drug for allergies could struggle to access it. Pharmacists were also advised against knowingly dispensing medicines for misuse.
The PPB urged women not to insert cetirizine or other oral medicines into the vagina and to consult healthcare professionals about vaginal dryness or sexual health concerns rather than follow unverified online advice.
Credit: AI
Delhi's air quality remained in the Very Poor category on Thursday, with an AQI of 369 as pollution levels continued to rise across the Capital. With Diwali celebrations with firecracker fuel smoke to an already polluted city, concerns about respiratory health are mounting. The timing is alarming as it also coincides with the flu season, when respiratory infections are also circulating.
While air pollution and influenza both affect the respiratory system, it can put additional stress on the lungs. Pollutants can irritate the airways, trigger inflammation and weaken the lungs' natural defence mechanisms, while the influenza virus infects the respiratory tract.
Together, they can aggravate respiratory symptoms and make breathing more difficult, especially in people with pre-existing lung conditions.
According to Dr. Arup Halder, Consultant Pulmonologist at CK Birla Hospitals, CMRI Kolkata, prolonged exposure to air pollution can weaken the respiratory system's immunity.
“Exposure to air pollution, especially for long durations, can weaken the respiratory system's immunity. Fine particulates can become lodged in airways and damage the mechanisms the body has to protect itself. This makes respiratory infections much more likely, especially if viral in nature,” he told HealthandMe.
Dr. Suresh Sagadevan, Senior Interventional Pulmonologist at Gleneagles Hospital, Chennai, told HealthandMe that pollution can also interfere with the lungs' natural cleaning mechanisms.
He said that the respiratory tract contains tiny hair-like structures called cilia, which help remove dust and germs. Polluted air can affect their functioning, making it easier for respiratory viruses to infect the airways. However, pollution does not directly cause influenza nut it can compromise the respiratory system's ability to defend itself against such infections.
Particulate matter and influenza together can intensify inflammation in the respiratory system.
Fine particulate matter, like PM2.5, can penetrate deep into the lungs. It can cause inflammation and oxidative stress. At the same time, influenza viruses infect the cells lining the respiratory tract.
"When both exposures occur together, the existing inflammation can become more intense, potentially worsening coughing, breathing difficulty and airway irritation. In simple terms, the lungs are dealing with two different stresses at the same time," said Dr. Sagadevan.
Dr. Halder added that PM2.5 can also interfere with the body's ability to ward off irritants from the respiratory tract, while influenza can make breathing challenging.
Facing both together can be challenging for people whose respiratory or immune systems are already compromised.
Also read: Air Pollution In Delhi: Experts Warn Of Red Eyes, Itching, Watering In Children
Firecracker smoke can aggravate an already infected and overwhelmed respiratory system. People with flu may experience excessive coughing, wheezing, chest tightness and breathlessness when they get exposed to high levels of pollution.
"Increased Diwali-related pollution will definitely worsen respiratory symptoms for individuals with the flu, especially during this period. The gases and particulate matter from firecracker smoke can lead to chest congestion and difficulty in breathing. In some cases, the pollution can worsen existing asthma and other lung-related conditions and trigger respiratory issues," said Dr. Halder.
Dr. Sagadevan said that people with asthma, chronic obstructive pulmonary disease (COPD) and other pre-existing respiratory conditions need to be particularly careful by limiting exposure.
Certain groups of people may face a greater risk when respiratory infections coincide with elevated pollution levels. These include:
Dr. Halder explains that older adults and people with weak immunity may be more susceptible to more serious flu symptoms. Meanwhile, those with existing lung conditions may experience worsening respiratory symptoms even with short periods of pollution exposure.
Pollution-related respiratory irritation and influenza can lead to similar symptoms, making it difficult to distinguish between the two. However, their onset and symptoms can differ.
Pollution-related irritation develops shortly after exposure to polluted air. Common symptoms include:
Flu, on the other hand, is a viral infection that mostly causes a sudden onset of symptoms, including:
"However, both can occur together, and symptoms may overlap. Persistent fever, worsening breathlessness or significant weakness should prompt medical evaluation," says Dr. Sagadevan.
Dr. Halder also recommends consulting a medical professional when symptoms make it difficult to determine whether the problem is pollution-related irritation or an infection.
Reducing exposure to polluted air and taking precautions against respiratory infections can help protect lung health during the festive season.
Both doctors recommend the following measures:
1. Limit outdoor exposure: Avoid spending long periods outdoors, especially after firecracker bursting and during periods of heavy smoke.
2. Wear a well-fitting N95 mask: If you need to step outside when pollution levels are high, use a properly fitted N95 mask to reduce exposure to fine particulate matter.
3. Keep windows closed: Close doors and windows during periods of heavy smoke to limit the entry of outdoor pollutants. Ventilate indoor spaces when outdoor air quality improves.
4. Avoid outdoor exercise: Vigorous physical activity increases the amount of air you breathe in, increasing exposure. Avoid exercising outdoors when air quality is poor.
5. Avoid firecrackers and second-hand smoke: Staying away from firecracker smoke can reduce exposure to harmful pollutants.
6. Get vaccinated against influenza: Stay up to date with flu vaccinations to reduce the risk of influenza and its complications.
7. Maintain hand hygiene: Wash your hands regularly for infection prevention.
8. Seek medical attention: Do not ignore worsening fever, cough, wheezing or breathing difficulties, especially if you have an existing respiratory condition.
Dr. Sagadevan concludes, "Air pollution and influenza can independently affect respiratory health, but their coexistence can place additional stress on the lungs. During the festive season, protecting our lungs through pollution avoidance, vaccination and timely medical care should be a priority."
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