A condition, known commonly as "black urine disease" or Alkaptonuria is a rare genetic disorder involving protein metabolism, and it has its root in the mutation of the homogentisate 1,2-dioxygenase gene, which in turn causes homogentisic acid accumulation in the body. The appearance of dark urine after exposure to air is due to this kind of accumulation; however, a variety of symptoms can be expected, such as joint stiffness, changes in pigmentation, and other long-term health complications. Although the prevalence has been estimated to be between 1 in 250,000 and 1 in 1 million people in the United States, its effects are indeed high on those affected.

Alkaptonuria is an autosomal recessive disease, meaning that the child must inherit a defective copy of the HGD gene from both parents. If both parents are carriers, their offspring have a 25% chance of inheriting two faulty genes and developing alkaptonuria. The condition is genetic but is often not diagnosed for years because it progresses slowly and its early symptoms appear to be harmless.

Symptoms of Alkaptonuria

The most characteristic and common initial symptom of alkaptonuria is dark urine. The reason for this is due to the fact that excess HGA is excreted in the urine and upon oxidation in the presence of air, it gives the urine a brown or black color. Though it is often considered cosmetic, the long-term accumulation of HGA within the connective tissues produces more complicated health problems.

Progressive joint pain and stiffness: The accumulation of HGA in cartilage leads to early-onset osteoarthritis, making movement increasingly difficult over time.

Skin and eye pigmentation changes: Affected individuals may develop bluish or grayish discoloration of the sclera (white part of the eye) and the skin, particularly in areas exposed to friction.

Cardiovascular and respiratory problems: With age, HGA accumulation can lead to valve calcifications in the heart and stiffening of connective tissues in the respiratory tract, which can cause problems in middle and old age.

Decreased mobility and spinal problems: The spine may become stiff and painful due to chronic cartilage degeneration.

These symptoms usually begin to manifest during adulthood, leading to severe complications in a person's 40s or 50s and significantly affecting the quality of their life.

How is Alkaptonuria Diagnosed?

Because of its rarity, alkaptonuria is often mistaken or overlooked early in life. However, there are several ways to confirm the condition:

Urine Testing: The gold standard in the diagnosis is the testing of urine samples for high levels of homogentisic acid via gas chromatography. In case of oxidation, which changes the color of urine to black, it is indicative of alkaptonuria.

Genetic Testing: Confirmatory genetic testing reveals mutations of the HGD gene to diagnose the condition conclusively.

Blood Tests: High levels of HGA in the blood can be used as further evidence.

Imaging Studies: X-rays and MRIs will expose cartilage and joint damage characteristic of alkaptonuria.

Management of Alkaptonuria: Is There A Cure?

At present, there is no cure for alkaptonuria; however, various treatment approaches can reduce its symptoms and slow the disease's progress:

Nitisinone Therapy: Nitisinone is a drug that inhibits the production of HGA. It has been shown to reduce HGA levels and slow tissue damage. However, it needs to be taken under close medical supervision because of potential side effects.

Low-Protein Diet: Since HGA is a byproduct of protein metabolism, reducing protein intake—especially foods rich in tyrosine and phenylalanine—may help decrease HGA production.

Pain Management: OTC pain relievers and anti-inflammatory medications can be used to relieve joint pain and stiffness.

Physical Therapy: Exercise regularly, as it may improve mobility and strengthen muscles, thus reducing strain on affected joints.

Surgical Interventions: Most people with alkaptonuria develop severe osteoarthritis necessitating joint replacement in their old age. Also, some may require heart valve replacement surgery if cardiovascular complications develop.

Life with Alkaptonuria

Although alkaptonuria is not fatal, it severely affects the quality of life. The progressive deterioration of the joints and associated symptoms can make everyday activities difficult, requiring lifestyle changes and medical interventions. The disease may cause premature aging of the joints, requiring walking aids and mobility assistance earlier than expected.

Ongoing research will continue to work on improving the treatment options by focusing on gene therapy and alternative enzyme replacement therapies. However, because of its rarity, the clinical trials and research remain sparse.

As genetic research advances, more hope for better management and possible curative approaches for alkaptonuria exists. Scientists are searching extensively for enzyme replacement therapies and innovative drugs that can target the root cause of the disorder. Being aware and being diagnosed early helps individuals better their condition and ultimately have better long-term health outcomes.

Alkaptonuria is a striking example of how one gene mutation can have widespread effects on the body. Though still a rare and often misunderstood condition, growing awareness and advances in treatment are paving the way for better care. If you or a loved one suspect symptoms of alkaptonuria, it is essential to seek early diagnosis and medical guidance to manage the disease effectively and preserve quality of life.

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.

Glutamate May Influence How The Brain Responds

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.

How Immersive Viewing Affects Brain

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.

Why Excessive Short-Video Maybe Harmful?

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:

• Reward-seeking behavior
• Reduced attention span
• Mental fatigue
• Sleep disruption
• Emotional reactivity

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.

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.

Moving Beyond One-Size-Fits-All Radiation Therapy

As cancer care evolves towards more personalised treatment, brachytherapy is emerging as a targeted alternative that delivers radiation with greater precision.

Also read: Why Flight Attendants, Pilots Face Higher Risk Of Radiation-Linked Cancer Deaths Than Other Occupations?

How Brachytherapy Delivers Radiation Where It Matters Most

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

A More Personalised Approach to Breast Cancer Treatment

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?

Shorter Treatment Duration, Greater Convenience

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.

Preserving Quality of Life After Cancer

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

Longevity expert and multi-billionaire Bryan Johnson has revealed another health condition affecting him. This time, it is meibomian gland dysfunction (MGD).

Johnson also said that the largely asymptomatic condition affects nearly 90 percent of adults over 40. The condition can "lead to permanent eye damage" and also affects younger people because of increased exposure to screens.

“I just learned that I have meaningful meibomian gland dropout. This is why my eyes are irritated,” Johnson said in a post on social media platform X.

“The dropout leads to evaporative dry eye disease, which triggers vision degradation such as blurred text, glare at night, light sensitivity, and neuropathic ocular pain. Left long enough, it can scar the cornea and permanently damage vision,” he added.

What Is Meibomian Gland Dysfunction?

Meibomian gland dysfunction happens when the tiny oil glands in the eyelids become blocked or produce poor-quality oil. This prevents enough oil from reaching the tears, causing them to dry up too quickly.

Major triggers include aging, hormonal shifts, screen use, and skin or eye inflammation, according to Cleveland Clinic.

Johnson explained that there are about “60 meibomian glands per eye, split across the upper and lower lid. They are like pores, secreting nourishing oil (meibum) onto your tear film to prevent rapid evaporation.”

He noted that the glands can become dysfunctional due to conditions or factors including "age, androgen deficiency, menopause, hormone replacement, oral contraceptives, isotretinoin, antihistamines, SSRIs, tricyclics, beta blockers, diuretics, anticholinergics, preserved eye drops, incomplete blinking, reduced blink rate, screen use, contact lens wear, and ocular rosacea".

When these glands become clogged, the meibocytes can die, and the gland can eventually drop out. Johnson said conventional medicine considers total gland dropout irreversible.

Why Can MGD Go Unnoticed?

Importantly, Johnson said that MGD can remain asymptomatic during its initial stages. When symptoms appear, the condition can resemble ordinary dry eye, allowing it to worsen and lead to permanent gland dropout.

Advanced MGD can also numb the cornea, further masking subjective symptoms as the disease progresses.

How Did Bryan Johnson Detect MGD?

Johnson's MGD was detected after he went to the doctor for a chalazion or stye, a painful, red bump on the edge of the eyelid.

He also mentioned undergoing diagnostic tests, including the Schirmer test and infrared meibography.

How Is Johnson Treating MGD?

Johnson began treatment with in-office intense pulsed light (IPL), radiofrequency (RF), and an experimental intraductal probing, known as the Maskin protocol, to address inflammation and physically reopen clogged glands.

The eye-light device combines IPL with 630-nm red low-level light. The proposed mechanism involves stimulating mitochondrial ATP production in meibocytes and reducing inflammation around the eyes.

The probing therapy involved using 1-mm, 2-mm, and 4-mm probes, which were inserted into each gland orifice.

“My doctor then expressed my glands, using a roller device to expel any buildup and kickstart the gland’s natural expression. This is really painful. Brings you to tears,” Johnson said.

Along with IPL, RF, and probing, he was also using warm eye compresses twice a day, in the morning and at night.

“With this protocol, we’ve seen a 30% improvement in meibomian gland function (using imaging). My glands look healthier, eye irritation has lessened, my subjective symptoms have subsided, and when we probe now, we encounter minimal fibrotic resistance (popping),” he said.

Signs of MGD to Watch For

Johnson listed several symptoms and warning signs to watch for, including:

• Burning or a gritty sensation in the eyes
• Vision that blurs and then clears when you blink
• Watery eyes, as dryness can trigger reflex tears
• Red, crusty or bumpy eyelid margins
• Recurring styes
• Contact lenses becoming uncomfortable
• Symptoms worsening when using screens, travelling on planes or staying in air-conditioned environments

Any of these symptoms, particularly after age 40, may warrant a gland examination, Johnson said.