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.”

Many women do not consider persistent bloating to be a serious issue because they tend to correlate their symptoms with acidity, excessive gas, overeating, or other temporary issues caused by their digestive system. Many women tend to treat their symptoms on their own by changing their diet or taking over-the-counter medications without looking into what the underlying problem may be. Many women do this because their symptoms initially seem mild. However, it is important to pay attention to any persistent bloating, especially if the bloating occurs on a regular basis, has lasted for at least one month, or is associated with symptoms such as pelvic discomfort, loss of appetite, an increased feeling of fullness, or irregular bowel habits (diarrhoea, constipation, etc.).

Is persistent bloating a sign of ovarian cancer?

In an interaction with Health and Me, Dr Parnamita Bhattacharya, Gynaecologist at CK Birla Hospitals, CMRI, spoke about the concerns surrounding persistent bloating and whether it is associated with the risk of ovarian cancer.

One of the most significant concerns surrounding persistent bloating is that women can develop ovarian cancer, especially in the early stages, without knowing or having any obvious signs that they have the disease. Because there are no routine screening tests to detect ovarian cancer in the general population, it is critical for women to be on the lookout for any symptoms of persistent bloating and report them immediately to their doctor. Unfortunately, because women often ignore their symptoms and fail to seek medical attention, by the time they do see a doctor, ovarian cancer has progressed to a later stage of development.

How to know if it is digestion-related bloating?

Not all bloating is related to ovarian cancer. Other common contributing factors to bloating include irritable bowel syndrome, food intolerance, hormonal changes, and lifestyle factors. The significant difference between "normal" bloating and "abnormal" bloating is how long each type of bloating lasts and how quickly the symptoms progress. If your bloating continues despite dietary changes, or if it increases in frequency, you should not ignore the symptoms. You should have them evaluated by a medical professional.

It is important for women to understand the signals sent by their bodies. If you frequently experience bloating, this issue needs to be investigated and not just accepted as normal. If you seek timely evaluation, doctors can determine the source of your problem early on, which greatly increases your chances of a good outcome from a serious diagnosis such as ovarian cancer.

What are the symptoms of ovarian cancer?

Ovarian cancer symptoms can be vague and may develop as the disease progresses. Therefore, timely detection is a challenge. Some of the signs of ovarian cancer include:

1. Pain in the pelvic region
2. Swollen belly
3. Loss of appetite
4. Feeling full after small meals
5. Nausea
6. Diarrhoea
7. Constipation
8. Unexpected weight loss
9. Painful sex
10. Extreme fatigue
11. Abnormal vaginal bleeding between periods

Former New York City Mayor Rudy Giuliani has been discharged from the ICU but will remain in the hospital for “some time” as he recovers from pneumonia, according to his spokesperson.

In a post on social media platform X, spokesperson Ted Goodman said Giuliani, 81, was hospitalized earlier this week in critical but stable condition.

Giuliani, who served as New York City's mayor from 1994 to 2001, was previously diagnosed with restrictive airway disease following the infamous 9/11 terrorist incident, where he “took down the mafia, saved New York City, and ran toward the towers on September 11th".

However, the incident left Giuliani with lasting health complications, Goodman said, adding that the former NYC Mayor "is recovering from pneumonia”.

“The virus quickly overwhelmed his body, requiring mechanical ventilation to maintain adequate oxygen and stabilize his condition,” Goodman said.

Calling him the "same fighter he's always been, and he's winning this fight,” Goodman said that the "mayor and his family appreciate the outpouring of love and prayers sent his way”.

Notably, Giuliani is a longtime ally of President Donald Trump. In 2025, Trump also announced awarding Giuliani with the Presidential Medal of Freedom, the country's highest civilian honor.

What Is Pneumonia?

Pneumonia is an inflammatory condition of the lung tissue, most often caused by infections. It can affect one or both lungs and can range from mild to life-threatening, especially in vulnerable populations like the elderly, young children, or those with underlying health conditions.

There are several types of pneumonia, classified based on their causes—bacterial, viral, and fungal—and each has distinct patterns of transmission and severity.

What Causes Pneumonia?

Pneumonia is not a single disease but a syndrome resulting from various infectious agents:

Bacterial Pneumonia: This is the most common type, often developing as a secondary infection after a cold or flu. Streptococcus pneumoniae is the most frequent culprit.

Viral Pneumonia: Caused by viruses like influenza, respiratory syncytial virus (RSV), and SARS-CoV-2 (COVID-19), this type often starts in the upper respiratory tract and spreads to the lungs.

Fungal Pneumonia: This type is less common and usually affects individuals with weakened immune systems. It's typically contracted through environmental exposure, such as to soil or bird droppings.

Early Warning Signs You Shouldn’t Ignore

Pneumonia can be insidious. It often begins with symptoms that mimic the flu: headache, fatigue, and fever. But as the infection progresses, signs become more serious:

• Persistent cough with green, yellow, or even bloody mucus
• Shortness of breath
• Chest pain, especially when breathing or coughing
• High fever, chills, and night sweats
• Confusion, especially in the elderly
• Nausea or loss of appetite

In a shocking case, a 68-year-old woman in the US who took antibiotics for inflammation developed an alarming skin reaction, leaving her skin black and blue.

The unusual case, reported in the New England Journal of Medicine (NEJM), noted that the woman developed dark patches on her skin very quickly, within two weeks of starting the drug — a course of minocycline, an oral antibiotic.

Two weeks before the onset of the skin changes, she had started taking 100 mg daily of oral minocycline to treat rosacea, which causes chronic inflammation and redness of the face.

Over the course of six weeks, dark patches appeared on the woman's arms and legs. It ranged from a bruise-like dark blue and purple to jet-black.

Her doctors also noticed blue-gray "hyperpigmentation" on the woman's forearms and shins, as well as on the sides of her tongue. The woman noted that the patches had first appeared on her legs before cropping up elsewhere.

Rosacea is a common skin condition that leads to the formation of small, red bumps and pus-filled pimples on the skin, and evidence suggests that antibiotics like minocycline can help eliminate those bumps.

Writing in the paper, Aarti Maharaj, from the University of Florida, shared that hyperpigmentation is a well-established side effect of minocycline, in which patches of skin become darker than the skin surrounding them.

While the condition typically develops after months of treatment, it may rarely occur with shorter courses, the expert said.

In this case, the woman was diagnosed with type II minocycline-induced hyperpigmentation, which is "defined by blue-gray discoloration of normal skin on the extensor surfaces of the arms and legs," according to Maharaj.

Doctors advised the patient to stop taking minocycline and to avoid sun exposure, as ultraviolet light is thought to worsen hyperpigmentation in these cases. Six months later, the hyperpigmentation in her limbs had "abated somewhat" but was still visible.

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Minocycline And Hyperpigmentation

According to Mayo Clinic, minocycline belongs to the class of medicines known as tetracycline antibiotics. It works by killing bacteria or preventing their growth. However, this medicine will not work for colds, flu, or other virus infections.

It causes hyperpigmentation:

• Type I shows up as blue-black discoloration on scarred or inflamed skin on the face, rather than on healthy skin on the limbs.
• Type II leads to blue-gray discoloration of normal skin on the extensor surfaces of the arms and legs.
• Type III appears as muddy-brown pigmentation on sun-exposed areas of the body.

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According to a frequently cited study, the side effect shows up in about 28 per cent of people in this population, although that research included only a small number of patients. The true incidence of the side effect is unclear, Live Science reported.

Once a person stops taking minocycline, the pigmentation can take months to years to dissipate, reports suggest. In type III cases, it sometimes never goes away.