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.”

Although monsoon rains provide relief from the unbearable summer heat, they also increase the risk of infections, dehydration, and diseases that are transmitted through water and that can affect the functioning of your kidneys. Since kidneys play a crucial role in eliminating toxins from your body and maintaining fluid balance, kidney care during the monsoon season becomes necessary.

Stay Hydrated

Though it is cooler during monsoon rains, your body needs enough water to help the kidneys filter the toxins efficiently. Try drinking 2-3 liters of clean water daily, or according to the requirement advised by your doctor. Avoid drinking contaminated water, as it increases the risk of infections in the kidneys.

Eat Healthy and Fresh Food

Eat fresh and cooked food at home instead of junk food that might get contaminated during the monsoon rains. Include seasonal fruits, vegetables, whole grains, and healthy protein sources in your diet. Restrict the intake of excess salt, canned products, and sugar drinks.

Prevent Infections

The monsoon season is prone to UTIs that may eventually reach the kidneys if not treated on time. Keep your body clean, wear dry clothes, and never keep urine in your bladder for a prolonged period. In case you have burning sensations while passing urine, fever, or pain in your lower abdomen, do see a doctor.

Control Health Problems

Individuals suffering from diabetes, hypertension, or pre-existing kidney problems should take special care of themselves throughout the monsoon. They should be taking their medications, measuring their sugar and blood pressure levels, and undergoing regular medical examinations to avoid kidney diseases.

No Self-medication

Analgesics and other OTC medications can cause damage to the kidneys when consumed frequently and without consulting a doctor.

Conclusion

It does not take much effort to maintain the health of your kidneys during the monsoon season. Simple things such as staying well-hydrated, consuming hygienic food, preventing any infection, keeping control of existing illnesses, and taking no medicines unnecessarily will ensure that your kidneys continue to perform at their best. In case of any swelling, change in urine output, fever, or back pain, you must see a doctor right away. The importance of the kidneys is undeniable for your well-being.

(By Dr. Bhanu Mishra, a Consultant- Nephrologist at Fortis Hospital, Shalimar Bagh)

When one hears about plastic surgery, he or she usually associates it with beauty operations designed to improve one's appearance.

Reconstructive plastic surgery is a very particular field of medicine that addresses problems with the restoration of patients' form and functions who suffer from trauma, cancer, birth defects, burns, and complicated wounds. For many people, reconstructive surgery is far from beautification. It is all about getting back to an independent life.

Reconstructive Surgery After Trauma and Cancer

Injuries that can occur following accidents on the road, incidents at industries, electric burns, and animal bites often lead to severe destruction to the skin, muscles, tendons, nerves, blood vessels, and bones. In addition, cancers of the breast, head and neck, mouth, skin, and limb regions are often treated with extensive surgical excisions to provide complete clearance from the disease.

Though these operations are necessary to save lives, they might lead to considerable impairment and deformities in the patients. Reconstructive plastic surgery helps solve these problems.

Advanced Techniques in Modern Reconstruction

Today's reconstruction surgery uses sophisticated methods, including microsurgical free tissue transfer, perforator flaps, local and regional flap reconstruction, split-thickness and full-thickness skin grafting, nerve grafting, tendon reconstruction, and vascular anastomosis.

The application of microsurgery, in particular, has greatly improved the possibilities for performing reconstruction surgeries through transferring viable tissue from one region of the body to another with the re-establishment of blood supply from blood vessels of just one to three millimeters in diameter using a surgical microscope.

Restoring Function After Cancer Surgery

One of the biggest breakthroughs in the field of reconstructive surgery has been in the area of post-cancer treatment. Women who have undergone surgery due to breast cancer have the option to undergo either immediate or delayed breast reconstruction surgery through implants or through autologous tissues to help restore their self-image and mental well-being.

Similarly, patients who have undergone surgery due to oral, jaw, or facial cancer can improve their functionality and social standing through microvascular surgery.

Burn Reconstruction and Functional Recovery

The other significant factor to consider is the importance of reconstructive surgery in the treatment of burns. Severe burns typically lead to contracture scars and limited movement of joints.

Excision, skin grafting, flaps, and scar revision surgeries are key in improving function, aesthetics, and reducing disability. Reconstruction of hands following injuries or burns allows people to carry out their daily tasks and work.

Restoring Hope Beyond Surgery

Reconstruction is not limited to the surgical theater but is best done using a multi-disciplinary team comprising plastic surgeons, oncologists, trauma surgeons, physiotherapists, occupational therapists, psychologists, dietitians, and rehabilitators. Rehabilitation, scar management, physiotherapy, and follow-up are just as important after surgery as the surgery itself.

Reconstructive plastic surgery is thus much more than a field of surgery; it is a specialty whose goal is to restore hope. Through a blend of surgical skills and compassion, it gives people an opportunity to transcend the physical and psychological effects of injuries or cancers. For many people, it changes the experience of survival into that of recovery.

With the onset of the monsoon, the risk of several water-borne, mosquito-borne, and bacterial infections increases significantly due to stagnant water, flooding, poor sanitation, and contaminated food and water.

Many of these diseases can start with mild symptoms similar to the flu, but if they're diagnosed early, you can get the appropriate medical care in time, avoiding serious complications.

Early Symptoms Of Various Monsoon Diseases

One of the important ways to prevent monsoon infections and diseases is to identify warning signs early, Dr. Amit Saraf, Director, Department of Internal Medicine, Jupiter Hospital, told HealthandMe.

Leptospirosis

Leptospirosis gained attention after its cases surged in Kerala recently. The infection has also been reported in Maharashtra, Gujarat, Tamil Nadu, and Karnataka. The bacterial infection typically spreads via contact with water or soil that has been contaminated by the urine of animals infected with leptospirosis, especially during floods.

Initial signs and symptoms include:

• High fever

• Chills

• Intense muscle pain (especially in calves)

• Headache

• Red eyes

• Nausea

• Vomiting

“Wearing protective footwear, avoiding wading in floodwaters, and covering any open wounds will help minimize the risk of infection,” Dr Saraf recommended.

Typhoid

• High fever

• Headache

• Weakness

• Loss of appetite,

• Abdominal pain

• Constipation or diarrhea

• Body aches

Dr. Saraf said: “It can cause serious gastrointestinal issues if not treated. Safe drinking water, good hand hygiene, and freshly cooked food are important preventive measures.”

Cholera

Cholera is a water-borne bacterial disease that commonly occurs during monsoons. It often begins with excessive watery stools, vomiting, leg cramps, and rapid dehydration. Dehydration can quickly become an immediate danger of cholera.

The doctor said: “Prevention includes drinking clean water, eating hygienically prepared food, and practicing proper sanitation and handwashing.”

Dengue

Dengue is one of the most common viral diseases spread by Aedes mosquitoes. Often reported in various Indian states during the monsoon, dengue presents with flu-like symptoms. Dengue usually begins with high fever, severe headache, pain behind the eyes, extreme muscle and joint pain, nausea, skin rash, and fatigue.

Malaria

Malaria, a common monsoon disease, is spread by infected mosquitoes and characterized by the following symptoms:

• Recurrent fever

• Shivering or sweats

• Headache

• Muscle pain

• Weakness

• Nausea

• Vomiting

Dr Saraf said, “Early diagnosis is important to prevent severe diseases. The best ways of preventing mosquito bites are by using mosquito repellents, mosquito nets, and the elimination of breeding sites.”

Chikungunya

Mosquito-borne viral diseases are reported to be the highest during the rainy season. One of them is Chikungunya. The infection is usually marked by sudden high fever and severe joint pain in the limbs. Other early symptoms may include headache, muscle pain, fatigue, and skin rash.

“The infection is usually not deadly but can cause joint pain for weeks or months. Preventive measures include mosquito control and avoidance of mosquito bites,” the expert advises.

Gastrointestinal Infections

During the monsoon period, gastrointestinal infections are also more common as food and water sources are more likely to get contaminated. Early signs of gut infections may include diarrhea, vomiting, cramps, nausea, bloating, fever, and dehydration.

The majority are due to bacteria, viruses, or parasites. The expert said that the risks can be minimized by maintaining food hygiene, drinking boiled or purified water, washing fruit and vegetables before cooking and consuming, and refraining from eating street foods and drinks.