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.”

A small lump in the neck is easy to overlook. In many cases, such swellings are linked to minor infections and settle on their own. But not every neck lump is harmless. The neck houses numerous vital structures, including lymph nodes, glands, blood vessels, and nerves, all within a compact area.

As a result, a seemingly minor swelling can sometimes be an early sign of an underlying condition that requires timely medical attention.

Why Neck Lumps Often Go Unnoticed

The neck houses important organs and tissues, including the thyroid gland, lymph nodes, salivary glands, major blood vessels, and nerves.

This area can be deceptive for two reasons:

• We rarely examine our neck as closely as we do our face or hands, allowing lumps to grow unnoticed.
• The neck acts as a drainage pathway for infections affecting the throat, teeth, scalp, and nearby regions, making swollen lymph nodes relatively common.

Adding to the challenge, many serious neck conditions, including certain cancers may not cause pain in their early stages.

What Causes Most Neck Lumps?

It’s been observed that the majority of neck swellings are benign.

Common non-cancerous causes include:

Reactive lymph nodes: Often develop after a cold, sore throat, dental problem, or skin infection. They are usually tender and tend to resolve within a few weeks.

Thyroid nodules: Quite common in adults and often harmless. These lumps typically move when swallowing.

Cysts: Such as branchial cleft cysts or sebaceous cysts, which are generally smooth, rounded, and slow-growing.

Lipomas: Soft fatty growths that can move easily beneath the skin.

Tubercular lymph node enlargement: Still frequently seen in India, presenting as gradually enlarging, usually painless neck nodes.

Also read: 'X-Men' Star Tyler Mane Shares Male Breast Cancer Treatment Journey, Urges Men To Prioritize Health

Warning Signs That Need Medical Evaluation

While many neck lumps are harmless, certain features warrant a consultation with a doctor within one to two weeks:

• A lump that persists for more than three to four weeks
• Progressive enlargement over time
• A hard, irregular, or fixed swelling
• A painless lump that does not go away
• Swellings larger than 2.5 cm (about one inch)
• Lumps located above the collarbone

Associated symptoms such as unexplained weight loss, mouth ulcer, persistent fever, night sweats, hoarseness, difficulty swallowing, chronic cough, or unexplained ear pain

Individuals with a history of tobacco use, alcohol consumption, previous radiation exposure, HPV-related disease, or a family history of thyroid cancer or lymphoma should be especially vigilant.

Also read: R&B Singer Nivea Reveals Leukemia Diagnosis

How Doctors Investigate Neck Swellings

Early diagnosis is key to ensuring the most effective treatment.

Evaluation typically begins with a detailed clinical examination, as the location of the lump often provides important clues.

Common investigations include:

• Ultrasound, which helps determine whether a swelling is solid or fluid-filled
• Fine Needle Aspiration Cytology (FNAC), a simple outpatient procedure that collects cells for analysis
• Core or excision biopsy, when further tissue assessment is required
• CT or MRI scans, which help assess the extent of deeper lesions
• Blood tests, including thyroid function tests and other relevant investigations

When cancer is detected early, treatment is often less extensive and outcomes are significantly better.

Also read: Cervical Cancer Cases In India Drop 37% Over A Decade, Highlighting Impact Of Screening & HPV Vaccination

Delays That Can Lead to Problems

Several common mistakes contribute to delayed diagnosis:

• Repeated courses of antibiotics without proper follow-up
• Assuming a painless lump is harmless
• Self-treating with massages, heat applications, or home remedies
• Delaying specialist evaluation despite persistent swelling

Seeking expert assessment early can prevent complications and improve treatment options.

A Simple Monthly Neck Self-Check

A quick self-examination can help identify changes early.

1. Look in the mirror for any visible swelling.
2. Swallow water and observe whether any lump moves.
3. Gently feel beneath the jaw, along both sides of the neck, behind the ears, and above the collarbones.
4. Monitor any new lump for changes in size, firmness, or mobility.
5. Seek medical advice if a swelling persists, enlarges, or remains unexplained beyond a few weeks.

The Takeaway

A neck lump is often nothing more than a temporary response to infection or inflammation. However, some conditions, including cancers of the thyroid, lymph nodes, and head and neck region can present as painless swellings long before other symptoms appear.

The key is not to panic, but not to ignore it either. When it comes to neck swellings, early evaluation can make the difference between a straightforward treatment and a much more complex journey later on.

By Dr Akshay Kudpaje, HOD/Senior Consultant - Head & Neck Oncology at HCG Cancer Hospital, Hebbal, North Bangalore

For decades, melasma treatment began and ended with a tube of cream. The typical first treatment for those stubborn brown-grey patches on the forehead, upper lip and cheeks that are typically caused by sun exposure, hormones or pregnancy was once hydroquinone, retinoid and steroid combinations.

Patients would put some cream on for months, and get some improvement, and then when they stopped, the pigmentation would reappear. Today, these creams have still got a role but dermatology has come a long way and now, patients have so much more to work with, acting on the melasma from different angles at the same time.

The New Generation Of Topical Ingredients

There are more choices available within the realm of creams. Gentler brightening agents like thiamidol and 2-MNG have been developed to do the same job as hydroquinone, but they do it in a different way in the body.

Initial studies indicate that these ingredients can be as effective as older favourites, irritating less than older ingredients that are already doing their job of irritating sensitive skin prone to developing melasma in the first place.

Another compound, malassezin, has shown promising early results in that it has been found to inhibit the process of pigment production itself. Due to the chronic and relapsing nature of melasma, dermatologists are more inclined to use these less aggressive, but more tolerated long term maintenance treatments as opposed to short term treatments alone.

Also read: Secret To Glowing Skin: How Face Acids Can Revolutionize Your Skincare Routine

Laser & Light-Based Therapies

The most obvious change in how the skin is treated for melasma is the way of lasers and light-based treatments. A side advantage of the low-fluence picosecond lasers is that they break up excess pigment with very short, gentle energy pulses, meaning that there's less skin damage as a side effect, which is a drawback of older, more aggressive laser settings.

Fractional lasers are now also employed in conjunction with topical treatments to enhance drug delivery into the skin, essentially combining the two treatments. They are regarded as non-invasive technologies since they do not involve any incisions or extended downtime and most patients are able to return to their pre surgery routine within a day or two.

Newer-Generation Peels

Chemical Peels are also available in a re-optimized formulation for the skin that tends to melasma. Newer types of combination peels use lesser amounts of various active ingredients and less of a single strong acid, reducing the chances for additional pigmentation, which is a common worry in dark skin tones.

They are now more frequently prescribed with topicals and lasers as part of a multi-pronged approach, rather than as a treatment on their own, as they are done in a series of milder sessions.

Also read: Scientists Find Rare Contagious Skin Cancer In Fish From US, Canada: Should Humans Worry?

Microneedling & Regenerative Approaches Are The Two Options To Consider

The technology of microneedling has also come a long way. This once again basic but now formulated with serums and even exosome-based formulations is an area that calms inflammation and helps to regulate the pigments of the skin as it recovers.

This "angle" is called "regenerative" because newer treatments aren't just intended to lighten or fade existing skin melanin, but seek to address the skin's environment that is causing melasma to reappear.

Both Oral & Systemic Options Are Available

Non-invasive is more than just procedures performed in the clinic. In recent years, low doses of tranexamic acid taken orally under medical supervision has been added to the melasma tool box.

It is internally active, in that it slows blood flow in the blood vessels, which is now known to help trigger the production of pigment in the skin, and is therefore a valuable addition to the treatment of melasma, particularly when other topical treatments are not effective.

Also read: Could Skin Changes Signal More Than Just Pregnancy Glow? Expert Shares What Every Mom-to-Be Needs To Know

Why Combination Care Is the New Standard?

There's one thing that sets the tone for the ever-changing landscape of melasma treatment: there's no single answer. It is now known that melasma is a real multi-faceted skin problem that is influenced by multiple factors such as genetics, hormones, sun exposure, heat and inflammation.

Many dermatologists prefer to use a multi-layered approach to skin care for treatment, such as a topical therapy, an in-office procedure and, if applicable, oral skin care therapy, depending on the skin type and pigmentation of the patient. That's not only for quicker results, it also helps to reduce the likelihood of the skin darkening more after treatment, which is more common in patients with darker skin tones.

Today, instead of a one-and-done, dermatologists are more apt to craft a gradual approach that involves calming active pigmentation, then moving to a maintenance regimen that is lighter to avoid pigment re-flash.

“As it is a multi-factorial disease, using any one modality is always going to be limited and a multi-modal approach that combines topical, procedural and sometimes systemic treatment, is what is helping us achieve more lasting results and reduced relapse rates,” says Dr. Ajay Rana.

What Hasn't Changed

Despite such innovation, one thing is true: sun protection is a must. If they're going to hold up, it's going to be because of the broad-spectrum sunscreen and the consistent application of it, along with physical protection such as sun hats.

If not, the most sophisticated of the procedures will eventually be replaced by renewed pigmentation.

Patient Advisory: Key Points To Consider

Although it's a challenging condition to treat, melasma is not a quick fix. However, today there are more ways for patients to visibly improve, and even more of them are not invasive, and have less side effects than five years ago.

If you've used a cream before and stopped using it, it might be worth talking to a dermatologist again; the treatment options are quite different now.

Fatty liver and liver damage are not identical. While fatty liver refers to a buildup of excess fat inside the liver cells, liver damage describes harm caused to the liver due to inflammation, scarring, toxins, infections, or any long-term disease.

What Is Fatty Liver?

The liver turns fatty, when the body stores too much fat in the liver. This can be caused due to obesity, insulin resistance, type 2 diabetes, high cholesterol- referred to as MASLD (Metabolic dysfunction associated Liver Disease). High consumption of alcohol or chronic hepatitis infection can also lead to fatty liver.

In many cases, fatty liver causes no obvious symptoms, especially in the early stages. Some people may feel tired or notice discomfort in the upper right side of the abdomen, but many often know about it incidentally- either during blood tests or through an ultrasound scan.

What Is Liver Damage?

Liver damage, on the other hand, can range from mild irritation to severe and permanent injury. The damage may be caused by viral hepatitis, alcohol misuse, certain types of medicines, autoimmune diseases, inherited conditions, or fatty liver that has turned serious.

Liver damage may be referred to inflammation, liver-cell injury, fibrosis, cirrhosis, or a reduction in the function of the liver. In short, fatty liver is one condition, while liver damage points to a wider range of liver diseases.

Also read: Healthcare In India No Longer A Privilege, Becoming A Right: PM Modi

How Are They Related?

The relationship between the two is important. Fatty liver does not always mean that the liver is badly damaged. Certain people have a simple fatty liver, where fat is present but there are little or no inflammation or scarring in the liver. This stage often improve with weight loss, a healthy diet, exercise, and a reduction in alcohol intake, if alcohol is a factor. However, in some people, fatty liver can progress.

When this fat buildup causes liver swelling and cell damage, it is called MASH (Metabolic Dysfunction-Associated Steatohepatitis) which can lead to an injury and the formation of scar tissue in the liver. Over a period of time, this can progress to fibrosis and, in advanced cases, cirrhosis. At this stage, the liver is damaged and may not be in a position to function properly.

Symptoms and Warning Signs

Symptoms also differ. Early fatty liver is often silent. More serious liver damage may cause jaundice, swelling in the legs or abdomen, easy bruising, severe fatigue, confusion, itching, or dark urine. These symptoms suggest the liver is under undue stress and needs proper medical management.

Also read: Novo Nordisk Sues Eli Lilly Over Weight-Loss Drug Ads: Should GLP-1 Users Be Concerned?

Diagnosis

Doctors diagnose these conditions by taking note of the medical history, getting blood tests done, scans, and sometimes specialized tests or even a liver biopsy. Blood tests will show any signs of liver inflammation or liver dysfunction, whereas scans will reveal the presence of fat or scars on the liver.

Key Takeaway

The key message is this: fatty liver is not always severe liver damage, but it can damage the liver if left ignored. The earlier it is diagnosed, the better is the chance of stopping or reversing the problem. Healthy weight management, regular exercise, balanced nutrition, control of diabetes and cholesterol, and abstinence of alcohol are the important protective steps.

When to Seek Medical Advice

If someone has ongoing fatigue, yellowing of the skin, abdominal swelling, or abnormal liver tests, they consult a doctor at the earliest. Early attention can make a major difference in protecting long-term liver health.

***