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.”

Holding urine occasionally, such as during a long meeting or traffic jam, is generally not harmful for most healthy adults. However, repeatedly delaying urination for extended periods may affect urinary health, particularly in people who are prone to urinary tract infections (UTIs) or have existing bladder problems.

What Happens When You Hold Urine for Too Long?

When urine remains in the bladder for too long, it can become uncomfortable and may contribute to bladder overdistension. In some individuals, particularly those with underlying urinary retention or bladder dysfunction, regularly postponing urination may worsen existing problems.

While holding urine does not directly cause a UTI in every case, incomplete bladder emptying can increase the risk of infection.

Also read: Are People With CKD At Higher Risk Of Dementia And Cognitive Problems?

Why You Should Not Reduce Water Intake to Avoid Bathroom Break

People who work long hours or commute frequently should try to respond to the urge to urinate rather than routinely suppressing it.

Maintaining adequate hydration is equally important, as deliberately drinking less water to avoid bathroom breaks can lead to concentrated urine and may increase the risk of certain urinary problems like concentrated urine leading to crystallization and stone formation.

When Should You Seek Medical Advice?

If you experience persistent urgency, burning during urination, lower abdominal discomfort, difficulty passing urine or blood in the urine, seek medical advice. Developing regular bathroom habits and ensuring convenient access to washrooms can help support long-term urinary health.

It is also important to recognise when urinary symptoms may indicate a more serious problem. Inability to pass urine despite a strong urge, particularly when accompanied by severe lower abdominal pain or swelling, requires urgent medical attention.

Fever, chills or pain in the back or side alongside urinary symptoms may indicate a kidney infection and should be assessed promptly. Avoid assuming that such symptoms are simply the result of holding urine for too long.

By Dr. Vikram Kalra, Principal Director - Nephrology and Kidney Transplant, Aakash Healthcare Multi Speciality Hospital, Dwarka

Menopause brings several changes to a woman’s body, and the breasts are no exception. As levels of oestrogen and other hormones decline, the glandular tissue in the breasts gradually decreases and is replaced by fatty tissue. This can change how the breasts look and feel.

For many women, breasts may become softer, less firm or change slightly in size and shape after menopause. Loss of skin elasticity with age can also contribute to changes in breast shape.

These changes can be a normal part of aging. But not every breast change after menopause should be attributed to hormones.

What breast changes can happen after menopause?

The hormonal changes associated with menopause can alter the composition of breast tissue. Some women may notice that their breasts feel softer or less dense than they did before menopause. Changes in skin elasticity can also lead to sagging or a gradual change in breast shape.

These changes, by themselves, are generally not a cause for alarm.

The concern arises when a new, unusual or persistent change appears, particularly if it is different from what a woman has experienced before.

Also read: Could A Daily Pill Help Prevent Breast Cancer Recurrence? Roche's Promising Experimental Drug Awaits FDA Approval

Which breast changes should not be ignored?

After menopause, women should speak to a doctor if they notice:

• A new change in the size or shape of one breast
• A new lump or area of thickening in the breast
• Persistent swelling in the breast
• Dimpling, puckering or thickening of the breast skin
• A newly inverted or retracted nipple
• Unusual nipple discharge, particularly if it contains blood
• A change in the appearance of the nipple or areola
• A new lump or swelling in the armpit or near the collarbone

These signs do not necessarily mean that cancer is present. Several benign breast conditions can cause similar changes. However, they should not be self-diagnosed or automatically dismissed as a consequence of menopause.

What about breast pain?

Breast pain is commonly caused by benign conditions and, before menopause, may also be associated with hormonal fluctuations. After menopause, persistent or unexplained breast pain should nevertheless be discussed with a doctor, particularly if it occurs alongside another breast change.

It is also important to remember that the absence of pain does not rule out breast cancer. Many breast cancers do not cause pain, and some may not produce a lump that can be felt.

This is one reason women should not wait for pain or a clearly palpable lump before seeking medical advice when they notice something unusual.

Is breast cancer screening necessary after menopause?

Screening remains an important part of breast health after menopause, but the appropriate approach depends on factors such as age, family history, personal medical history and individual risk.

Women should discuss screening with their healthcare provider and follow recommendations appropriate to their age and risk profile. Every woman should also learn how to perform a self-breast examination and become familiar with the normal look and feel of her breasts. Regular self-examination can help women notice new or unusual changes early and seek medical advice promptly.

Self-breast examination should complement, rather than replace, recommended screening and clinical evaluation. If a woman notices a new lump, skin change, nipple change or any other unusual finding, she should consult a doctor even if her routine screening is due later.

Those with a strong family history of breast or ovarian cancer, or a known genetic predisposition to breast cancer, may require a different or more intensive screening strategy.

Importantly, screening is intended for women who do not have symptoms. If a woman notices a new breast change, she should not simply wait for her next routine screening appointment; she should discuss the change with a doctor.

Also read: Breast Cancer: Are Women in India Being Diagnosed Too Late?

Don't blame every change on menopause

Menopause is a natural stage of life, but it should not become an explanation for every new symptom.

Most breast changes are not cancerous. However, the only way to determine the cause of a persistent or suspicious change is through appropriate medical evaluation.

Women should become familiar with how their breasts normally look and feel and pay attention to changes that are new or unusual for them.

Breast health does not become less important after menopause. In fact, continuing to pay attention to changes, practising regular self-breast examination and staying up to date with appropriate screening can help detect problems early.

The message is not to fear every change, but to avoid ignoring one simply because menopause has begun. When something feels or looks different, getting it checked is always better than assuming it is “just menopause.”

By Dr. Tapti Sen, Sr. Consultant ,Breast Surgery, RG Stone Urology & Laparoscopy Hospital, Kolkata

Many women notice changes in their breasts, such as localised tenderness, an itchy nipple or a slight pulling of the skin. These changes are often caused by benign conditions, including hormonal changes, irritation or infection.

Breast cancer does not always present as a painless lump, however. It can sometimes appear in less typical ways, and recognising persistent or unexplained changes can help people seek timely assessment.

India’s breast cancer burden

GLOBOCAN 2022 estimates recorded 192,020 new breast cancer cases and 98,337 deaths in India in 2022. These estimates placed India third globally for the number of new cases and first for the absolute number of deaths. These are estimates for 2022, not current annual counts.

Changes in skin, shape and nipple

A tumour can involve the breast’s supporting fibrous structures and surrounding tissues, causing skin tethering, dimpling or a new change in breast shape or symmetry. Any new, unexplained change deserves clinical assessment.

Changes in the nipple also deserve attention. A nipple that newly flattens, turns inward or deviates to one side should be assessed. Spontaneous discharge from one nipple—particularly bloody or clear discharge—can be a warning sign, although it is not always caused by cancer. Persistent itching, burning, flaking or eczema-like crusting of the nipple may be associated with Paget’s disease of the breast, a rare malignancy involving the nipple–areola complex that is often associated with an underlying breast carcinoma.

Unexplained swelling or persistent lumps in the armpit or above the collarbone can sometimes be an early sign of breast cancer. These findings also have non-cancerous causes and need assessment rather than self-diagnosis.

Also read: Why Peak Incidence For Breast Cancer In India Occurs Between Ages 40–50, Compared To 60–70 In The US & Europe

Pain, redness and swelling

Breast cancer can be painful, even though pain alone is not a reliable way to tell whether a change is cancerous. A painful lump should not be ignored, and a painless lump should not be assumed to be harmless.

Inflammatory breast cancer can be particularly difficult to recognise. It may cause rapid breast enlargement, heaviness, redness, warmth and swelling, sometimes without a distinct lump. The skin may develop a pitted appearance resembling orange peel. Because these symptoms can resemble mastitis or other skin conditions, infection may initially be suspected. However, persistent or worsening redness and swelling, especially when symptoms do not improve as expected with treatment, require prompt reassessment and investigation for an underlying malignancy.

How the diagnosis is confirmed

Any persistent or suspicious breast change warrants clinical assessment. Depending on the person’s age and symptoms, evaluation may include diagnostic mammography and targeted ultrasound. Further imaging or biopsy may be needed when indicated. A suspicious finding should not be dismissed solely because initial imaging is reassuring.

Persistent or suspicious nipple and skin changes require timely specialist assessment. If Paget’s disease or another malignancy is suspected, biopsy may be necessary without a trial of topical treatment. Suspected inflammatory breast cancer requires prompt imaging and tissue diagnosis; a skin punch biopsy may also be indicated.

Also read: Breast Cancer in Young Women: What You Should Know

Common causes of delay

People may delay seeking help because they expect a symptom to become painful, hope it will go away, or assume that redness or itching is due to irritation. Breast symptoms other than a lump can also be associated with longer diagnostic journeys. The length of delay varies between individuals and healthcare settings, so precise comparisons should be interpreted in the context of the study and the interval it measures.

Repeatedly treating persistent skin redness or nipple crusting with antibiotics, moisturisers or steroid ointments without reassessment can delay appropriate investigation. Treatment may be reasonable when infection or a skin condition is suspected, but symptoms that persist, recur or worsen need further evaluation.

When to seek medical advice

A new breast lump, unexplained skin dimpling, new nipple inversion, spontaneous bloody discharge, or persistent redness and swelling warrants prompt medical assessment. Unexplained fullness or swelling in the armpit or above the collarbone should also be checked. Most breast changes are benign, but symptoms should not be ignored or self-treated indefinitely. A healthcare professional can decide whether imaging, biopsy or other investigations are needed.

Early assessment can improve the chance of diagnosing breast cancer at a treatable stage. In general, breast cancer diagnosed while localised has a better prognosis than disease that has spread to distant parts of the body, although outcomes also depend on tumour biology, treatment, and other clinical factors.

By Dr. Arun Kumar Sharma, Consultant, Surgical Oncology, Fortis Hospital Jalandhar