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.

Air quality has long been linked to lung and heart diseases, but its role in infertility among both women and men often goes unnoticed. In recent years, researchers have begun to better understand how long-term exposure to high levels of air pollution, especially in Indian cities, may harm fertility and reproductive health. Prolonged exposure can damage reproductive cells, interfere with hormone balance, and increase the risk of pregnancy-related complications. While pollution is not the sole cause of infertility, it adds to existing reproductive challenges and can worsen underlying problems.

We got in touch with Dr. Suchithra Reddy, Senior Consultant - Infertility Specialist, Rainbow Children’s Hospital, Sarjapur Road who helped us know more about the same.

Impact of Air Pollution on Male Reproductive Health

Male reproductive health appears to be particularly affected by sustained exposure to polluted air. Fine particulate matter, especially PM2.5, has been closely associated with lower sperm count, reduced motility, abnormal sperm shape, and increased DNA damage in sperm cells. Dr Reddy said, “These changes are largely driven by oxidative stress and chronic inflammation, which directly affect the seminiferous tubules where sperm are produced. In addition, heavy metals present in polluted air may disrupt testosterone levels, a hormone essential for proper sperm development and maturation.”

Effects of Air Pollution on Female Fertility

Air pollution can also negatively influence female fertility. A broad review of existing studies shows that exposure to common air pollutants around the time of conception can reduce the chances of successful pregnancy and raise the risk of miscarriage. Dr Reddy said, “Pollutants frequently found in urban environments, such as PM2.5, nitrogen dioxide, and polycyclic aromatic hydrocarbons, have been shown to impair ovarian function and interfere with embryo implantation.”

Beyond conception, polluted air is linked to a higher likelihood of pregnancy complications, including preterm birth and low birth weight. This is thought to occur because pollutants can limit the supply of oxygen and nutrients to the developing fetus, leading to adverse outcomes.

Hormonal Disruption Caused by Air Pollution

Studies have shown that air pollution exposure can disturb estrogen and progesterone levels and alter hormones involved in ovulation, such as FSH and LH. These changes may result in reduced ovarian function, poorer egg quality, irregular menstrual cycles, and a higher risk of miscarriage. Together, these disruptions directly affect ovulation, implantation, and early pregnancy health.

A significant portion of pollution-related fertility issues is driven by chronic inflammation and oxidative stress. Breathing in polluted air triggers widespread inflammatory responses that can damage hormone-producing organs like the ovaries, testes, and thyroid. It can also interfere with hormone receptors and disrupt communication between the brain and the endocrine system. These internal changes contribute to hormonal imbalance and impaired reproductive function. The severity of these effects varies, and not everyone exposed to pollution will experience fertility or hormonal problems.

Understanding PM2.5 and PM10 Exposure

Not all particulate matter carries the same level of risk. PM10 consists of larger particles that are often trapped in the upper respiratory tract, making them relatively less harmful. PM2.5 particles are much finer and more dangerous, as they can travel deep into the lungs, enter the bloodstream, and reach hormone-producing organs such as the ovaries, testes, and thyroid. Because of this ability to spread throughout the body, PM2.5 poses a greater threat to reproductive health than larger particles that mainly affect breathing.

Early Pregnancy Risks

There is also evidence suggesting that fetal growth and lung development may be affected, with risks becoming more noticeable at the population level rather than in individual cases.

Air pollution is one of several factors influencing fertility in India, particularly in urban areas. Although it is rarely the sole cause of infertility, reducing exposure to polluted air can improve reproductive outcomes. This is especially relevant for couples undergoing IVF and during the early stages of pregnancy, highlighting the need to view clean air not just as an environmental issue, but as an important aspect of reproductive health.

Norovirus appears to be increasing after a 57 percent jump in hospital admissions linked to the sickness bug last week. Figures from the NHS show that an average of 567 hospital beds were occupied each day by patients suffering from diarrhoea and vomiting. Although this number remains well below last winter’s peak, the sudden rise over just one week has raised concerns that norovirus infections could soon climb further.

Experts believe the return of children to school and more indoor contact following the Christmas break may be helping the virus spread.

Why Does Norovirus Spread So Easily?

Jason Murphy, head of pharmacy at Chemist4U, as per The Mirror, said the virus is often underestimated. “Norovirus spreads far more easily than people realise. Even a very small amount can make you ill, and it can stay on surfaces for several days. As cases continue to climb, it’s important to move beyond basic hygiene and take more focused steps to protect yourself and others. Many people think norovirus is a short-lived illness, but it’s very persistent and passes on easily.”

Murphy added that pharmacists tend to approach norovirus from two angles. “We focus on stopping it from spreading and on helping the body cope while the infection passes. There’s no treatment that kills the virus itself, but there are ways to ease symptoms and lower the risk of problems like dehydration.”

Advice To Prevent The Spread Of Norovirus

Treat it as a hard-to-kill infection – Norovirus is classed as a non-enveloped virus, which means alcohol hand gels and many everyday cleaners do not work against it. Washing hands with soap and warm water removes the virus physically, while bleach can neutralise it on surfaces.

Use the right cleaning products – Choose disinfectants that clearly state they are virucidal or effective against non-enveloped viruses. If this is not mentioned, the product is unlikely to kill norovirus.

Get bleach dilution right – Bleach needs to be mixed correctly. If it is too diluted, it will not kill the virus. If it is too strong, it can irritate the skin and lungs. Always ventilate the room well and follow the instructions on the label.

Treat vomiting as contamination – In healthcare settings, vomiting is handled as a form of airborne exposure. Clean beyond the visible mess, air out the space properly, and assume nearby soft furnishings may also be contaminated.

Create isolation at home – If possible, give the unwell person their own bathroom, towels, and bin. This mirrors hospital infection control measures and helps limit the spread to others.

How To Ease Norovirus Symptoms?

Focus on rehydration – Dehydration is the most serious risk linked to norovirus. Electrolyte drinks are more effective than water alone because they replace lost salts as well as fluids.

Take fluids slowly – Sip small amounts every five to ten minutes instead of drinking large volumes at once. This helps reduce vomiting and allows the body to absorb fluids better.

Pain relief – Once fluids are staying down, paracetamol is the safest option for fever, headaches, and muscle aches. Ibuprofen should be avoided if you are dehydrated or vomiting frequently, as it can irritate the stomach and strain the kidneys.

Be careful with anti-diarrhoea medicines – Drugs such as loperamide can slow diarrhoea, but this is not always advised because diarrhoea helps flush the virus out. These medicines may be used briefly in specific situations, such as essential travel, but should not be given to children or used if there is a fever or blood in the stool.

Help with nausea – For severe sickness, a pharmacist can recommend anti-nausea treatments. If vomiting continues, a GP may prescribe medication to help control symptoms so fluids can be kept down.

Eat gently when ready – Once your appetite comes back, start with plain foods like toast, crackers, bananas, or rice. Avoid rich, spicy, or dairy-heavy foods until you feel better.

Rest as part of recovery – The immune system clears norovirus on its own. Getting enough rest supports recovery and helps prevent further complications.

The takeaway coffee cup in your hand may be releasing a sea of microplastics into your body every time you take a sip, a new study reveals.

Microplastics are essentially fragments of plastic that are between 1 nanometer and 5 millimetres wide and can found in water, soil and the air. Experts estimate that about 2.7 million tonnes of microplastics seeped into the environment in 2020, an estimate expected to double by 2040.

These fragments carry toxic chemicals and can disrupt internal biological processes, leading to inflammation, cell death, organ dysfunction, heart attacks and reproductive issues in humans. Scientists have also found links between microplastics and cancer.

While researchers have long claimed that microplastics can enter the human body through contaminated food and water, a new Australian study suggests it can also enter through hot coffee cups.

Why Are Plastic Coffee Cups Dangerous?

Xiangyu Liu, study co-author and research fellow at School of Environment and Science and Australian Rivers Institute, Griffith University, Nathan, said this was due to heat.

The team conducted a a meta-analysis on existing research and analyzed data from 30 peer-reviewed studies. During this time, they focused on how common plastics such as polyethylene and polypropylene behave under different conditions, primarily temperature.

As the temperature of the liquid inside a container increased they noticed that the release of microplastics generally increases too. In the studies reviewed, reported releases ranged from a few hundred particles to more than 8 million particles per litre, depending on the material and study design.

Interestingly, 'soaking time' or the amount of time the drink sits in the cup was not a consistent driver, suggesting that leaving a hot drink in a plastic cup for a long time is not as important as the initial temperature of the liquid when it first hits the plastic.

After testing nearly 400 different cups, they found that if someone drinks '300 millilitres of coffee in a cup made of polyethylene per day, they could ingest 363,000 pieces of microplastic particles every year', according to Liu

What Can Be Done To Reduce Risks?

The team recommends using a reusable cup made of stainless steel, ceramic, or glass, as these materials do not shed microplastics for hot drinks. If you must use a disposable cup, its is better to drink out of a plastic-lined paper cup as they shed fewer particles than pure plastic cups, though neither is microplastic free.

They also advise not pouring putting boiling liquids directly into plastic-lined containers. Telling the barista to make your morning coffee slightly cooler before it hits the cup can reduce the physical stress on the plastic lining and lower overall exposure.