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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.
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.
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.
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.
Shum believes HAQ-STING could lead to game-changing treatments, including:
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.”
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World Mosquito Day, observed on August 20, raises awareness about mosquito-borne diseases such as dengue, malaria, Zika, yellow fever, and chikungunya and the health risks they pose.
Among these diseases, dengue remains a major public health concern, affecting people across regions worldwide throughout the year.
Also read: India’s First Approved Dengue Vaccine: Takeda’s QDENGA Protects Against All Four Virus Serotypes
Dengue is typically associated with high fever, joint pain, and low platelet counts. However, severe dengue can affect the kidneys and lead to acute kidney injury (AKI).
Speaking to HealthandMe, nephrologists said kidney problems may not always cause symptoms early on, making monitoring particularly important in severe dengue.
Dr. Anupam Roy, Additional Director - Nephrology and Kidney Transplant, Aakash Healthcare Multi-Speciality Hospital, Dwarka, said that recovering from dengue requires careful fluid management, particularly in severe cases.
It is because the kidneys regulate fluids and electrolytes, and changes in circulation caused by dengue can temporarily disrupt their function.
Fever, vomiting, and poor fluid intake can cause dehydration, while severe dengue can cause plasma leakage. Both too little and too much fluid can create problems, making medical supervision important. In hospital, healthcare professionals monitor urine output and signs of dehydration, particularly in patients with complications or underlying health conditions.
After the acute phase, patients should gradually resume eating and drinking according to medical advice. Excessive fluid intake and self-medication should be avoided, particularly when medicines could place additional stress on the kidneys.
“So, it is the quantity issue that must be tackled,” Dr. Roy said.
According to Dr. Manoj Arora, Consultant Nephrologist, NephroPlus, a network of dialysis centers, warning signs include:
Some symptoms can overlap with severe dengue, including continuous vomiting, severe stomach pain, and bleeding.
Kidney injury is more likely in people with severe dengue or shock. Older people and those with diabetes, hypertension, obesity, or existing kidney problems may also face higher risk.
Seek medical attention for a drastic reduction in urine, new swelling, blood in the urine, worsening breathlessness, confusion, or continuous vomiting.
In hospitalized patients, monitoring is important when creatinine rises, electrolyte levels fluctuate — particularly potassium — or urine output continues to change.
Early recognition and appropriate management are key. Doctors may monitor:
Do not self-medicate or increase fluid intake without medical advice, particularly during severe dengue.
Reducing mosquito exposure and preventing mosquito breeding can help lower the risk of dengue.
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Are you someone who can spend hours scrolling through short videos on Instagram, YouTube or TikTok? A new study suggests that watching preferred short videos may temporarily quiet brain regions involved in self-control and monitoring, offering a possible clue to why it can be so hard to stop.
Short Videos May Quiet Brain’s Self-Control Network
The research, published in the journal NeuroImage, found that watching preferred short videos may temporarily suppress activity in parts of the brain involved in cognitive control. This effect may also be linked to levels of the brain chemical glutamate.
The study focused on the dorsal anterior cingulate cortex (dACC) and dorsolateral prefrontal cortex (dlPFC). Both are key regions of the cognitive control network, which becomes active during tasks that require mental effort, attention and self-regulation.
Researchers from Zhejiang University in China found that both the dACC and dlPFC showed significant deactivation when participants watched preferred videos to completion, compared with less-preferred videos that were stopped early.
The liked videos significantly reduced activity in both brain regions linked to cognitive control. When participants watched videos they chose to continue, activity in the dACC and dlPFC fell below normal resting levels.
However, disliked videos showed a different pattern. Activity in the dACC remained close to normal, while the dlPFC was still suppressed. Meanwhile, the visual cortex remained active during both types of videos, suggesting the changes were linked to the viewing experience rather than simply looking at a screen.
The small study of 56 participants also examined whether resting levels of two important brain chemicals could help explain differences in how participants’ cognitive control networks responded during short-video viewing.
Glutamate is the brain’s main excitatory neurotransmitter, helping increase neural activity. Gamma-aminobutyric acid (GABA) is the brain’s main inhibitory neurotransmitter, helping reduce or regulate neural activity.
The researchers found that resting-state glutamate levels in the dACC were associated with the extent of brain deactivation. Higher glutamate concentrations were linked to less suppression of activity in both the dACC and dlPFC.
Functional connectivity between the dACC and dlPFC also increased during video viewing, particularly when participants watched their preferred videos.
The researchers said the findings provide new evidence that immersive viewing of preferred short videos can deactivate the cognitive control network and that individual differences in this response may be linked to glutamate metabolism.
They suggested that the findings could help improve understanding of how digital media consumption interacts with neurochemical processes involved in self-regulation and may offer insights into the neural mechanisms behind excessive short-video use.
The study, however. does not establish that short-video viewing directly causes a loss of self-control or addictive behavior.
Previous research has linked excessive short-video use with changes in attention, focus and mental well-being.
Studies in Nature Communications and research from the American Psychological Association suggest that highly stimulating, rapidly changing content may encourage constant novelty-seeking and make sustained attention more difficult.
Potential effects include:
Short videos are not inherently harmful, but excessive or compulsive scrolling can become a concern when it interferes with sleep, work, studies or daily life.
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Breast cancer is now the most commonly diagnosed cancer among women in India, representing a significant and growing public health concern. According to recent estimates, India recorded approximately 221,757 new breast cancer cases in 2022, making breast cancer the most common cancer among women and accounting for nearly one-fourth of all female cancers in several urban populations1.
Rising urbanisation, lifestyle changes, delayed childbirth, and increasing life expectancy have contributed to the growing incidence. Despite advances in awareness and screening, many women continue to be diagnosed at later stages, underscoring the need for effective, accessible, and patient-centric treatment approaches.
As cancer care evolves towards more personalised treatment, brachytherapy is emerging as a targeted alternative that delivers radiation with greater precision.
Unlike conventional radiation, which passes through normal tissues before reaching the target, brachytherapy focuses treatment directly on the tumour bed. This precision helps maximise treatment effectiveness while reducing potential side effects.
Also read: Groundbreaking Experimental Vaccine May Prevent Pancreatic Cancer From Spreading, Early Trial Finds
One of the most significant applications of breast brachytherapy is Accelerated Partial Breast Irradiation (APBI). In selected patients with early-stage breast cancer, the risk of recurrence is highest around the original tumour site. APBI targets only this region rather than treating the entire breast.
This focused approach helps protect healthy breast tissue and nearby organs such as the heart and lungs. Advanced imaging and treatment-planning technologies further enhance personalisation by allowing radiation doses to be tailored to the patient's anatomy and tumour characteristics.
Also read: UK Set To Implement Stricter Protocol For Prostate Cancer Testing; Who Is Eligible To Get Tested?
A major advantage of brachytherapy is the shorter treatment schedule it offers. Conventional radiation therapy may require daily sessions for three to six weeks, whereas brachytherapy-based APBI can often be completed within a few days.
For patients travelling long distances to access specialised cancer care, this can reduce both the logistical and financial burden of treatment while minimising disruptions to daily life.
As survival rates improve, quality of life has become a key consideration in breast cancer care. Brachytherapy's targeted approach reduces radiation exposure to healthy tissues and has been associated with favourable cosmetic outcomes.
By combining precision, convenience, and effectiveness, brachytherapy represents an important step towards personalised breast cancer treatment, offering appropriately selected patients an opportunity for effective care with potentially fewer side effects and improved overall treatment experience.
By Dr. Harjot Kaur Bajwa, Senior Consultant Radiation Oncologist and Brachytherapy specialist at the American Oncology Institute, Hyderabad
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