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.

Smoking has long been recognized as one of the most preventable causes of disease and early death worldwide. It plays a major role in heart attacks, strokes and several chronic illnesses. While public health messaging often focuses on how much a person smokes, new research suggests that when someone starts smoking may be just as important for long-term health.

A large nationwide study published in Scientific Reports analyzed health data from over nine million adults in South Korea. The findings were striking. People who began smoking before the age of 20 faced a significantly higher risk of stroke, heart attack and early death compared to those who started later, even if their total lifetime smoking exposure was similar.

Smoking Before 20: Why the age matters

Traditionally, doctors and researchers estimate smoking-related harm using pack-years, which combines the number of cigarettes smoked per day with the number of years a person has smoked. While this remains useful, the new study highlights an important gap. Two people with the same pack-years may not have the same health risks if one started smoking much earlier in life.

The researchers found that early starters had a much higher risk of stroke and heart attack than those who took up smoking after the age of 20. This suggests that the body may be especially vulnerable to tobacco damage during adolescence and early adulthood, making age of initiation an independent risk factor.

Smoking and stroke: what we already know

The link between smoking and stroke is well established. Long-term studies, including the famous Framingham Heart Study, have consistently shown that smokers are far more likely to experience a stroke than non-smokers. The risk increases with the number of cigarettes smoked and affects people across age groups.

Smoking damages blood vessels, speeds up plaque build-up in arteries, raises blood pressure and makes blood more likely to clot. All of these changes increase the chances of both ischaemic and haemorrhagic strokes. Younger adults who smoke are not protected simply because of their age, and in many cases, their relative risk is even higher.

Key findings from the Korean cohort

The study followed participants for nearly nine years using data from a mandatory national health screening programme. Researchers looked at stroke, heart attack, combined cardiovascular events and overall death rates.

Those who started smoking before 20 had about a 78 percent higher risk of stroke compared to non-smokers, especially when they also had high smoking exposure. Early starters also showed a much greater risk of heart attacks and combined cardiovascular events. Importantly, they had a higher risk of death from all causes, not just heart-related conditions. These patterns were consistent across men and women and across different metabolic health profiles.

Why early smoking causes greater harm

There are several reasons why smoking at a younger age may be more damaging. During adolescence, the heart, blood vessels and brain are still developing, which may make them more sensitive to toxins in tobacco smoke. Starting early is also linked to stronger nicotine dependence, making quitting harder and often leading to longer periods of smoking.

Early exposure may also trigger lasting inflammatory and metabolic changes in the body. These changes can increase stroke risk later in life, even when total cigarette exposure appears similar on paper.

What this means for public health

The findings send a clear message. Preventing smoking during adolescence could significantly reduce the future burden of stroke and heart disease. School-based education, strong warning messages and policies that limit youth access to tobacco remain critical.

Delaying smoking initiation, even by a few years, may have lifelong benefits. With cardiovascular diseases already among the leading causes of death globally, protecting young people from tobacco use is not just about avoiding addiction. It is about safeguarding their long-term health.

A simple tennis ball might be able to tell you whether you have dementia or not. While it sounds strange, experts explain that the strength of your hands is a major clue for how well your mind is aging.

In a recent video, Neurologist Dr. Baibing Chen explains that your grip strength is a "window" into your cognitive health. To squeeze your hand, your brain must coordinate nerves, muscles, and blood flow all at once. When this system weakens, it often suggests that the brain’s "resilience" or ability to bounce back is also lower.

While weak hands don't cause dementia, they can be an early warning sign. In some conditions, like vascular dementia, physical changes like slowing down or dropping things often happen before memory loss even begins.

How To Do The Tennis Ball Test At Home?

You don't need expensive equipment to check your strength. You can use a standard tennis ball or a stress ball to track your progress:

Get Ready: Sit up straight with your feet flat on the floor and your arm stretched out in front of you.

Squeeze: Grip the ball as hard as you possibly can.

Hold: Try to keep that strong squeeze for 15 to 30 seconds.

Repeat: Do this three times with each hand and note if you feel tired or if your strength fades quickly.

What the Numbers Mean

Researchers have found that people in the bottom 20% of grip strength have a much higher risk of developing memory problems.

For example, a massive study of nearly 200,000 adults showed that as grip strength drops, the risk of dementia goes up by about 12% to 20%.

Specifically, if a man’s grip strength is below 22 kg or a woman’s is below 14 kg, doctors consider that a "red flag" for future cognitive decline. These numbers are helpful because they show changes in the body years before memory loss actually starts.

What If You Fail The Tennis Ball Dementia Test?

It is very important to remember that a weak grip is not a guarantee of dementia. Many factors, such as arthritis, old injuries, or general lack of exercise, can cause your hands to feel weak.

The goal of this test is not to scare you, but to encourage you to be proactive. If you feel like your hands are getting "tired" faster during daily chores or you are dropping items more often, mention it to your doctor. They can help determine if it is just a muscle issue or something that needs more investigation.

How Is Dementia Diagnosed?

Dementia is one of the most common cognitive conditions in the world. According to the World Health Organization, there were 57 million people living with dementia in 2021, many of whom never had any treatment for it.

Early detection of dementia is an important part of the treatment. While it may not completely cure the disease, it can slow down the progress to help people retain as much of their abilities as possible.

Finding out if someone has Alzheimer’s is not as simple as taking one single test. Doctors act like detectives, gathering many different clues to figure out what is happening in the brain. To make an accurate diagnosis, healthcare providers use a combination of different tools and tests:

Brain Scans

Doctors may use imaging tests like MRI, CT, or PET scans to look at the physical structure of the brain and check for any unusual changes.

Cognitive Tests

There may be cognitive tests that check your recall skills. These are mental puzzles or questions that check your memory, problem-solving skills, and how well you can perform daily tasks.

Lab Work

This can also include blood tests or checking "spinal fluid" to look for specific markers that show up in people with certain types of dementia.

Physical Exams

A neurologist may also check your balance, your senses, and your reflexes to see how well your nerves are working.

Claire Danes recently revealed that she was shocked to learn that she was pregnant with her third child at 44. In an interview with Amy Poehler in an episode of Good Hang with Amy Poehler, the Beast In Me actress revealed that she burst into tears at her OB/GYN’s office, explaining that she didn’t know it was possible to be pregnant after 40.

Danes shared that she initially felt a strange sense of embarrassment about the pregnancy. Because she and her husband, Hugh Dancy, weren’t planning for a third, Danes felt like she had stepped outside of normal "parameters."

The debate surrounding pregnancies after 40 has always persisted. Many people like Claire believe that it is impossible to get pregnant after your biological clock runs out. However, in reality, things do not work like that. Dr Rohan Palshetkar, Consultant IVF specialist, at Bloom IVF explains a few factors one should know about.

Can You Get Pregnant After 40?

Yes, Dr Rohan explains that it is completely possible and safe with the current technological advancements. “Earlier we did have fetal medicine specialists, high resolution ultrasounds, better monitoring techniques and safter IVF options”

Screening tests are much more detailed, IVF options are more robust and egg freezing is also an empowering tool for women who wish to have pregnancies later in life, Dr Rohan explained.

However, he also pointed out that post 35 risks of having diabetes and hypertension increases, so consistent monitoring helps a lot.

What Are Some Risks Of Pregnancies After 40?

The chance of having a high-risk pregnancy increases for women above 40, according to the American College of Obstetricians & Gynecologists (ACOG). They explain that since women are born with all the eggs they will ever have, those eggs age right along with the body. As time goes on, the number of eggs decreases, and their quality can change.

While many women have healthy pregnancies in their 40s, here are some specific risks you should know about.

Chromosome Issues

Older eggs are more likely to have certain genetic changes. This means there is a higher chance for the baby to be born with a health condition like Down syndrome instead.

Miscarriage or Stillbirth

Women in their forties face a much higher statistical chance of losing a pregnancy. It is very important to stay in close contact with your doctor to monitor your baby's health.

Low Birth Weight

There is a greater risk that the baby will be born weighing less than what is considered healthy. Small babies often need extra medical care and stay in the hospital longer.

Blood Clots

Being pregnant naturally increases your risk of developing dangerous blood clots. However, this specific medical danger becomes even more likely for mothers who are over the age of thirty-five or forty.

Gestational Diabetes

This is a specific type of high blood sugar that some women develop only while they are pregnant. It requires careful diet management or medication to keep you and baby safe.

Preeclampsia

This is a very serious condition involving high blood pressure that can happen during pregnancy. It can be dangerous for the mother and the baby if it is not treated quickly.

Labor Challenges

Delivery can be more difficult for older mothers, often leading to longer labor times. Because of these complications, doctors are much more likely to recommend a surgical C-section birth instead.

How Doctors Support Pregnancies After 40

Being "high-risk" doesn’t mean something will go wrong; it just means your medical team will watch you more closely. Modern medicine has great tools to keep you and your baby safe, such as,

• Prenatal Screening
• Extra Ultrasounds
• Frequent Check-ups