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.”

While a hickey is generally harmless, in several shocking incidents, it has led to strokes and even death.

A hickey is typically a dark red or dark purple mark on your skin caused by intense suction.

According to health experts, the strong suction from the passionate love bite leads to blood clots that travel to the brain. It then blocks a vital artery and causes a embolic stroke.

Embolic stroke is a type of ischemic stroke caused by a blood clot or debris (embolus) that forms elsewhere in the body—often the heart—and travels through the bloodstream to block a blood vessel in the brain.

The Independent reported the case of 17-year-old Julio Macias Gonzalez, who suffered convulsions while eating dinner with his family after hanging out with his 24-year-old girlfriend and later died.

In a similar case reported from New Zealand, a 44-year-old woman suffered a stroke following a hickey.

While non-fatal, the 2010 study published in the New Zealand Medical Journal reported the medical condition “a rare phenomenon.”

In yet another case, the Danish Medical Journal reported the incident of a 35-year-old woman who experienced a sudden onset of right-sided weakness due to a left middle cerebral artery stroke 12 hours after she had obtained a love bite on the left side of her neck.

“Generally speaking, hickeys are simply superficial bruising, and there’s no scientific evidence available that could inform our thinking about this situation as it relates to stroke,” Teresa Roncon, spokeswoman for the Heart and Stroke Foundation of Canada, was quoted as saying Global News.

Is It Lethal?

While it's generally harmless, in some extreme cases, it can raise the risk of damaging the carotid or vertebral artery due to extreme pressure.

The carotid arteries, one on each side of the neck, are responsible for supplying blood to the head, including the brain. Vigorous manipulation of the neck, including the action of a hickey, can cause the inner wall of the carotid artery to rupture. (This process is medically termed as carotid artery dissection).

Such a dissection is a nidus, a place where bacteria can multiply, for the formation of a blood clot. The blood clot can then get dislodged and enter the brain circulation, eventually causing a stroke.

How Can A Hickey Go Wrong?

While there is nothing wrong with giving or receiving love bites, it is imperative to note that one should not dig their teeth too deeply into the other person's neck to avoid injury and damage to sensitive structures like the carotid artery or the jugular vein (a vein that carries deoxygenated blood from the skull to the body).

While there are practically no ways to cure a hickey, you can speed up the healing process. These processes can help you expedite the process:

• Alternate Cold and Warm Compresses
• Avoid Worsening The Hickey
• Massage The Area
• Use Topical Creams.

Ten-year-old Myla from the UK's North Yorkshire, with severe eye strain, was diagnosed with a severe brain tumor that led to her death.

The young girl had been suffering from headaches and dizziness, which were dismissed as mere eye strain due to playing on her iPad too much.

Thinking that she needed eyeglasses, her parents took her for an eye appointment, where she was diagnosed with an aggressive diffuse midline glioma — a type of brain tumor.

Myla was diagnosed with a 7-10cm tumor and was rushed to Sheffield Children's Hospital for an operation to remove 60 per cent of the mass. The youngster underwent a grueling 30 rounds of radiotherapy but tragically passed away on January 15, The Mirror.co.uk reported.

Can Eye Strains Lead To Brain Tumors?

Healthandme spoke to health experts to understand the role of eye strain and brain tumors.

The health experts noted that although prolonged exposure to digital screens can raise the risk of vision problems, they cannot cause brain tumors.

"Eye strain is most commonly linked to prolonged screen use, poor ergonomics, or uncorrected vision, and in the vast majority of cases, it is not a sign of brain cancer," Dr. Parul Maheshwari Sharma, Ophthalmologist and Principal Director & HOD - at Fortis Gurugram, told HealthandMe.

"The likelihood of experiencing eye strain being an indication of brain cancer is minimal," added Dr. Mahipal Singh Sachdev, Chairman & Medical Director, Centre For Sight Group of Eye Hospitals.

The doctors explained that brain tumors are rarely present as simple eye strain; they are usually associated with additional symptoms such as:

• persistent headaches,
• double vision,
• vision loss,
• vomiting,
• neurological deficits.
• convulsions,
• vision changes.

What Is Eye Strain?

Eye strain, also referred to as digital eye strain or computer vision syndrome, is caused by staring at screens for extended periods of time and decreased blinking.

It generally occurs due to benign factors such as excessive screen time, dry eye, or uncorrected vision.

While prolonged screen use can cause discomfort, dry eyes, and temporary blurred vision, it does not lead to the development of cancer.

"There is no evidence to suggest that screen-induced eye strain can cause brain tumors," Dr Sharma said.

"Although there may be visual changes due to a tumor that involves the optic nerve or hypothalamus, simple eye strain is not indicative of brain tumors and would not be considered an early warning of a brain tumor. There is an extremely low probability that eye strain will be due to a brain tumor," Dr. Sachdev told HealthandMe.

However, the experts agreed that long screen time can lead to severe eye strain.

Red Flags One Should Not Ignore For Brain Tumors

Brain tumors are generally attributed to genetics, exposure to radiation, or other unknown factors.

Numerous types of red flags could indicate the presence of a serious neurological disorder. Some examples include

• chronic or worsening headaches, especially if severe in the morning,
• recurrent unexplained vomiting,
• seizure activity,
• sudden changes in vision, such as double vision or complete loss of vision,
• trouble speaking clearly,
• weakness in the arms or legs,
• drastic personality changes.

Higher-risk patients include:

• those with a history of radiation exposure to the brain,
• specific genetic conditions,
• those with a family history of brain cancer.

Also read: 12-Year-Old Teen Dies From Rare Brain Tumor After Unusual Early Signs, Grieving Mother Urges Parents To Watch For Subtle Symptoms

Steps to Reduce Eye Strain

To help combat eye fatigue, individuals can adopt some simple habits, such as

• Following the 20-20-20 rule: every 20 minutes, look at something 20 feet away for 20 seconds.
• Place your computer monitor at or below eye level and keep a comfortable distance from the computer.
• Adjust your screen brightness and contrast to comfortable levels and use adequate room lighting.
• Remember to blink often or use artificial tears to keep your eyes moist.
• Take screen breaks, limit the duration of time you are using your computer, or limit the continuous use of your computer.
• Make sure you are using the correct prescription glasses and consider using an anti-glare screen, which can also help relieve discomfort and protect your eyes from long-term effects.

Ladies, does it ever happen to you that you are not on your period, not PMSing, and still feel moody and upset? Well, as it turns out, experts say that there could be a very simple reason for this. According to researchers at the University of Connecticut, even mild dehydration could be responsible for mood changes in women. Not only this, even 1.36 per cent dehydration can affect your mood, ability to think and energy levels. The Daily Mail notes that a loss of 1.5 per cent of normal water volume levels in the body can be classified as mild dehydration, and its adverse effects can linger for some time.

Read more: The Health Problems Women Normalise, But Gynaecologists Do Not

How does dehydration affect women?

In women, the adverse effects of dehydration can be serious. Experts say that the effects are more intense in women, and they came to this conclusion after analysing the results of tests, which revealed that it does not matter if a person walks for 40 minutes on a treadmill or is in a state of rest — if an individual is even slightly thirsty, the adverse effects will be the same.

Research shows that even 1.36 per cent dehydration is enough to cause the following problems:

1. 8 per cent rise in hostility and anger
2. 12 per cent dip in vigour
3. 17 per cent increase in fatigue
4. 45 per cent dip in concentration
5. 19 per cent worsening of mood
6. 58 per cent dip in understanding simple tasks
7. Headaches worsening two fold

Is thirst the same as dehydration?

Lead researcher of the study, Lawrence Armstrong, noted that a sensation of thirst does not appear until a person is one or two per cent dehydrated. By then, it starts to set in and act up, adversely impacting how the mind and body perform. Dehydration can affect everyone, which is why it is just as important for people in desk jobs to stay hydrated as it is for marathon runners.

Read more: Three Health Checks Every Woman Should Do Each Month, According To Experts

In this research, experts put participants through a series of tests evaluating their concentration, vigilance, reaction time, reasoning, memory and learning. The results were then compared with those of people who were not dehydrated. In younger women, mild dehydration resulted in fatigue, headaches and concentration difficulties. Women also found basic tasks more difficult to execute than usual. On the other hand, young men noted some difficulty in performing mental tasks — they experienced anxiety, fatigue and tension in the process. Mood changes were more prominent in women than in men.