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.

Colon cancer, medically known as colorectal cancer, was historically typical for people aged 50 or older. However, in recent years, the cancer that forms in the tissues of the large intestine has been increasing in prevalence in young adults. As many as one in five colorectal cancer patients today falls into this younger age group.

Now, a study published by the American Society of Clinical Oncology shows that marathons, which are one of the most celebrated physical activities, may be increasing the risk of the disease.

What Did The Study Find?

The team at Inova Schar Cancer Institute in Virginia, US, initiated the study after observing multiple “ultramarathoners” present to their cancer center with advanced colorectal cancer.

To probe the link, they recruited 100 runners to undergo colonoscopies — the gold standard for screening and preventing colorectal cancer. The team then looked at runners ages 35 to 50, who had either completed at least five marathons or two ultramarathons (any runs of 50 kilometers or more).

Presenting the findings at the 2025 American Society of Clinical Oncology (ASCO) annual meeting, Dr. Timothy Cannon, an oncologist at the Institute, stated that

• Nearly 50 per cent of the participants in the study had polyps, which can become cancerous,
• 15 per cent had advanced adenomas (noncancerous tumor) which are likely to become cancerous.

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Almost always, colon cancers start as small growths called polyps or precancerous lesions on the inner lining of the colon or rectum.

Moreover, the study found that the rate of advanced adenomas nearly tripled among the marathon runners, compared to the general population, at 4.5 -6 per cent.

How Does Ultra-running Spike Chance Of Developing Colon Cancer?

In general, running and other forms of exercise are known to reduce the risk of developing colon and other cancers. At the same time, exercise-induced gastrointestinal injury is also believed to be associated with reduced blood flow to the intestines during long-distance running.

Notably, to date there is no evidence that definitively shows running causes polyps.

The new study presents a correlation — an increasing relationship between long-distance running and advanced adenomas. It does not prove that running directly causes the adenomas.

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The new results suggest that “intensive long-distance running is a risk factor for advanced adenomas of the colon", said Dr. Timothy, in the paper. The team also called for "refining screening strategies" for marathon runners.

It is because runners put their bodies through a lot, which can raise the risk of chronic inflammation, enabling cancerous cells to grow.

Their high-caloric foods for immediate energy can slow down digestion and impact your overall colon health.

What is Colorectal Cancer

The American Cancer Society notes that colorectal cancer is a cancer that starts in the colon or the rectum. Colorectal cancer impacts around 1.9 million people every year, noted the World Health Organization (WHO) as per its 2022 data.

It is a disease of the large bowel and a type of cancer that originates from the rectum or colon. A person's colon, cecum, rectum, and anus make up the large intestine.

According to experts, if you are above 45 years of age or have high-risk factors, you need to take the initiative to be screened, as the symptoms appear late, impacting treatment outcomes.

The common red flags for colorectal cancer include:

• rectal bleeding,
• persistent abdominal discomfort,
• pain,
• a noticeable change in bowel habits.

From being a macho dude, Bruce Willis’ personality has changed to becoming more ‘tender’ even as the 71-year-old action hero continues to battle dementia, according to his daughter Rumer.

“I’m so grateful I get to go see him,” Rumer, 37, said during a podcast interview. “Even though it’s different now, I’m so grateful.”

“There’s a sweetness. He’s always been this kind of macho dude, and there’s like a — fragile is not the right word, but — just a tenderness that maybe being Bruce Willis might not have allowed him in a certain way,” she added.

Bruce Willis is continuing into his third year living with the condition.

In March 2022, Bruce Willis, the media legend who dominated Hollywood in his prime, was diagnosed with dementia, and since then, his family has been sharing their struggle with his diagnosis and how slowly it has been taking a toll on his health.

The following year, his diagnosis was confirmed as frontotemporal dementia (FTD), which is a degenerative disease that slowly chips away at your motor skills, communication skills, etc. His wife, Emma Heming Willis, noted early signs were subtle changes in his speech, initially mistaken for a resurgence of his childhood stutter.

Rumer is the eldest daughter of Bruce and The Substance star Demi Moore, who were married from 1987 to 2000. The former couple also had Scout Willis, 34, and Tallulah, 32, together.

Although FTD is considered to be one of the rarest forms of dementia, Rumer said the disease is more “prevalent” than she realized.

“It’s wild to me. So many people come up to me now, and they say, ‘My uncle had FTD. My dad had this,” she said.

Bruce Willis Is Alive

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Earlier this year, in March, a hoax news of Bruce Willis’ death circulated. However, his representatives confirmed that the news is fabricated and that the actor is alive.

"He joins the long list of celebrities who have been victimized by this hoax. He's still alive and well. Stop believing what you see on the Internet," his official representative stated.

What Is Frontotemporal Dementia?

Frontotemporal dementia is a less prevalent type of dementia that mainly occurs in the frontal and temporal lobes of the brain. It tends to affect behavior, personality, language, and movement more than memory, particularly in its initial stages.

In contrast to Alzheimer's, which generally strikes older individuals, FTD can hit at an earlier age—sometimes as young as 40. The symptoms can range from changes in personality, emotional flatness, or the inability to show empathy to impulsiveness, so it is especially hard for spouses and children to cope.

Frontotemporal Dementia: Symptoms

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The Mayo Clinic states that the symptoms of FTD vary depending on the most affected part of the brain. The progression is gradual but relentless.

Behavioral symptoms:

• Socially inappropriate behavior.
• Loss of empathy and sensitivity to others.
• Poor judgment and impulsivity.
• Apathy that can be mistaken for depression.
• Compulsive habits such as tapping, clapping, or repetitive lip-smacking.
• Decline in hygiene.
• Odd eating habits – from sudden sugar cravings to chewing on non-food items.

• Trouble understanding and producing speech.
• Difficulty finding the right words.
• Using vague terms like “it” instead of specific words.
• Simplified, telegraphic speech.
• Errors in building sentences.

• Tremors, stiffness, or muscle spasms.
• Difficulty swallowing or weakness.
• Poor balance leading to falls.
• Inappropriate emotional outbursts, such as laughing or crying.
• The “wide-based gait” noted by Dr. Gartner falls into this movement-related cluster, aligning with the suspicion of FTD.

Even as injectable aesthetic procedures are gaining popularity as "cosmetic" treatments in beauty clinics and wellness centers across the country, the Central Drugs Standard Control Organisation (CDSCO) has tightened rules around cosmetic use.

In a new public notice issued this week, the CDSCO stated that cosmetic products that come in injectable form do not fall under the definition of cosmetics under the law. It said that such products are not permitted for use by consumers, professionals, or aesthetic clinics.

"Cosmetic means any article intended to be rubbed, poured, sprinkled or sprayed on, or introduced into, or otherwise applied to, the human body," the notice said.

It added that cosmetics are for "cleansing, beautifying, promoting attractiveness, or altering the appearance."

Thus, "products supplied in the form of injectable preparation do not fall under the definition of cosmetics. No cosmetic is permitted to be used as injection by consumer/professionals/aesthetic clinics," the notice added.

What Can No Longer Be Done

The new rules bar professionals and stakeholders from using or manufacturing any cosmetic product intended for injection or medical purposes.

The move also seeks to curb misleading advertising and unauthorised cosmetic practices by clinics and individuals.

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The regulator also warned against misleading claims and the use of prohibited ingredients in cosmetic products, saying such violations attract action under the Drugs and Cosmetics Act and Cosmetics Rules, 2020.

"Use of prohibited ingredients in cosmetic products, misleading claims on label, use of cosmetics for treatment, and application of cosmetics through injection attracts violations of the said Act & Rules," the notice said.

The regulator stated that no person shall alter, obliterate, or deface any inscription made by the manufacturer on the container or label of the product intended for use as a cosmetic.

The notice added that the list of generally not recognised as safe (GNRAS) and restricted ingredients is published by the Bureau of Indian Standards (BIS).

It has also encouraged the public and users to report any instance of misleading claims or violations through email and state licensing authorities.

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Why Injectable Beauty Clinic Therapies Are Under Scanner

The move follows several incidents of sub-standard cosmetic products found to be sold in the market, ranging from Botox parties in upscale salons to glutathione “skin whitening” drips offered in local aesthetic clinics.

Social media trends, celebrity endorsements, and growing demand for “preventive anti-ageing” treatments among younger consumers have driven the market for injectable beauty products, especially Glutathione drips, as well as detoxifying therapies, in the country.

Medical experts have also been raising concerns over their long-term safety and efficacy. As per experts, unregulated injectable procedures carry risks ranging from allergic reactions and infections to liver and kidney complications in extreme cases.

The new norms, thus, are part of the government's plans to strengthen the regulatory mechanism for cosmetics.

The government is also reportedly planning to designate a Central Cosmetics Laboratory to test cosmetic samples and may also designate any laboratory under its control for testing, according to Mint.

In addition, manufacturers will have to keep details and records of each batch and raw materials. Records are to be maintained for three years after the expiry of each batch. Imported cosmetic products shall bear a code number as approved by the State Licensing Authority.