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.

For years, PCOS was often diagnosed through the most visible disruptions: irregular periods, acne, facial hair, weight gain, or difficulty conceiving. That made many patients enter the healthcare system through gynecology, usually when menstrual, reproductive, or visible hormonal symptoms became hard to ignore.

The shift from Polycystic Ovary Syndrome to Polyendocrine Metabolic Ovarian Syndrome encourages clinicians to look earlier, wider, and more systematically at the condition.

A Wider Starting Point

The old name placed the ovary at the center of the condition. PMOS keeps ovarian function in the picture, but it widens the diagnostic lens to include the hormone and metabolic systems that are often involved from the start. This distinction matters because the condition is not defined by harmful ovarian cysts. In fact, ovarian cysts are not required for diagnosis, and some women with PCOS may not show polycystic ovaries on ultrasound at all. The newer name, therefore, helps move diagnosis beyond a scan-based or ovary-only understanding, and closer to how the condition actually presents and manifests itself in the body.

From Period Problem To Whole-body Assessment

With PMOS, diagnosis should become less dependent on ultrasound and more attentive to the full clinical pattern. Doctors will still look at irregular or absent periods and signs of high androgen levels, such as acne, excess facial or body hair, hair thinning, and raised testosterone levels, where tested. But the newer framing should also make metabolic screening routine, especially for insulin resistance, type 2 diabetes risk, blood pressure, cholesterol, obesity, sleep apnea, and fatty liver-related concerns. WHO describes PCOS as a chronic metabolic condition that can persist beyond the reproductive years, with symptoms and risks varying from person to person.

PMOS: Why This Change Could Reduce Missed Diagnosis

The scale of underdiagnosis is large. It is estimated that PCOS affects 10–13% of reproductive-aged women, while up to 70% of affected women worldwide may not know they have the condition. A name that leads with “polyendocrine” and “metabolic” may help clinicians connect symptoms that were previously treated separately: a dermatologist sees acne, a gynecologist sees irregular periods, an endocrinologist sees insulin resistance, and a mental-health professional sees anxiety or poor quality of life.

What Needs To Change Now

The diagnosis is not changing into a different disease. The condition remains the same, but the way it is understood may become broader and more accurate. The real opportunity lies in better recognition: fewer patients being told their symptoms are only about cysts, weight, periods or fertility, and more patients being assessed for the long-term hormonal and metabolic risks that can come with the condition.

For this shift to matter, awareness must grow across the medical fraternity and among patients, so PMOS is approached as a multi-system condition; symptoms are recognized earlier, and care becomes more connected from the beginning.

(Written by Dr. Rashmi Dharaskar, Sr. Consultant Obstetrics and Gynaecologist at Surya Mother & Child Super Specialty Hospital).

When Indian summers touch 48 degrees, it’s no longer just uncomfortably hot—it’s a serious public health challenge. Extreme heat affects everything from hydration levels in the body to digestion, the health of your skin, heart, and even mental well-being. Surviving (and staying healthy) through such brutal temperatures requires 360-degree body care, not just an extra glass of water or switching on the AC.

Dr P. Venkata Krishnan, Senior Consultant & Director—Internal Medicine, Narayana Hospital, Gurugram, in an interview with Health and Me, shared a complete and practical survival plan to help your body cope with the extreme Indian summer—inside and out.

Hydration: Go Beyond Plain Water

In intense heat conditions, your body loses water and electrolytes very quickly through sweat. Electrolytes help carry water to the blood and tissues. Hence, drinking only plain water in summer may not suffice. Try sipping water consistently at regular intervals instead of gulping large quantities at once. Electrolyte-rich fluids like coconut water, lemon water with a pinch of salt, or buttermilk are healthy, affordable options to soothe parched throats. Avoid excess caffeine, colas, and alcohol, as they increase dehydration; if you must indulge, have a glass of water before your coffee or alcoholic drink.

Pro tip: Check your urine colour—dark yellow is a warning sign of dehydration.

Eat Light, Cool, and Smart

Our digestive systems are also tired in extreme summers. Spicy, heavy, and oily foods generate more internal heat, which puts an additional burden on digestion. Opt for seasonal fruits like watermelon, muskmelon, papaya, and berries instead of chips and snacks.

To ease digestion, add items like curd, rice, cucumber, and bottle gourd to your meals. Avoid red meat and fried foods during peak summer days. Smaller, lighter meals are easier for the body to process in extreme heat. Find ways to increase hydration through fruits and vegetables in your food too, apart from water intake.

Protect Your Skin from Heat Damage

Heat doesn’t just tan your skin—it accelerates ageing, causes pigmentation, and triggers rashes. Incorporating a summer skincare regimen can help prevent damage to your skin.

1. Use a broad-spectrum sunscreen daily, even if you’re indoors.
2. Wear loose, breathable cotton or linen clothing.
3. Take cool (not ice-cold) showers to soothe overheated skin.
4. Seek medical advice for prickly heat, fungal infections, or sudden rashes—they thrive in sweaty conditions.

Mind Your Heart and Blood Pressure

Extreme temperatures put additional stress on the cardiovascular system, especially in people with hypertension, diabetes, or heart conditions. There are just a few things to bear in mind. When the temperature outside sizzles, avoid stepping outdoors for prolonged periods, especially between 12 pm and 4 pm, when the sun beats down mercilessly.

Take all prescribed medications exactly as advised—don’t skip doses even if you experience heat-induced nausea. If you feel dizzy or experience palpitations or severe fatigue, consult your doctor as soon as possible. Heat exhaustion can silently progress to heatstroke, which is a medical emergency.

Smart Cooling at Home and Work

Air conditioning is helpful, but overexposure can lead to dry skin, headaches, and respiratory discomfort. However, since the emphasis is more on cooler environments in summer, there are a few ways to avoid overexposure to AC.

Once every two or three hours, step away from your desk for a few minutes. Walk or stand, and sip some water. Open windows, if possible, to avoid thermal shock. Set AC temperatures between 24 and 26 degrees, despite the urge to cool the surroundings further. Use fans and cross-ventilation whenever possible, relying a little less on air conditioning in the process. Never move directly from extreme heat into freezing AC environments, or vice versa, as it can impact your body suddenly.

Sleep & Mental Well-being Do Matter

Poor sleep due to heat can increase irritability, anxiety, and fatigue. Include some calming activity before bedtime. Put away screens, as they radiate heat too. Some tips to help you sleep better:

1. A lukewarm shower before bed.
2. Well-ventilated bedrooms.
3. No heavy dinners or eating late at night; ideally, finish dinner before 9 pm, leaving a gap of a couple of hours afterwards before going to sleep.
4. Mindful slow breathing or short meditation helps control heat-related restlessness.

Special Care for Vulnerable Groups

Children, elderly individuals, pregnant women, and outdoor workers are at higher risk of heat-related health concerns. They should particularly ensure that they hydrate more frequently.

1. Watch for signs like dry mouth, lethargy, confusion, or reduced urination. Seek a doctor’s advice if needed.
2. Include cooling foods to prevent dehydration and encourage lighter, frequent meals instead of full, heavy meals.
3. Never leave children or pets inside parked vehicles or in spaces without ventilation—even for a few minutes.

A holistic approach covering hydration, nutrition, skincare, heart health, and mental well-being can help your body adapt and stay resilient. Extreme heat is not “just a bad summer." Treat it seriously, listen to your body, and make smart daily choices, because protecting yourself from the heat today prevents long-term health problems tomorrow.

Cancer is one of the most dreaded diseases. It is characterised by a malignant tumor that obstructs the normal functioning of organs. According to a recent analysis from the World Health Organisation (WHO), more than a third of cancer cases in the world are preventable. Cervical, stomach, and lung cancers make up half of the cases. This implies that millions of such deadly cases in the world can be prevented with behavioural changes, timely medical intervention, reduced occupational risks, and an ability to tackle environmental pollutants. It turns out that most preventable cancers can be avoided by making two simple lifestyle changes.

Preventable cancers in the world

Researchers say that addressing preventable causes represents one of the most powerful opportunities to reduce the global cancer burden. The analysis also noted that, in 2022, there were approximately 19 million new cases of cancer, and 38 per cent were related to 30 modifiable risk factors. The most common modifiable risk factors are:

1. High BMI
2. Smoking
3. Insufficient physical activity
4. Alcohol intake
5. Smokeless tobacco
6. Air pollution
7. Exposure to infectious agents
8. Suboptimal breastfeeding
9. Occupational exposures

What are the preventable risk factors for cancer?

The most common preventable risk factor, however, was smoking tobacco. It is associated with 15 per cent of all cancer cases in a year. In men, the risk was significantly higher. Smoking contributed to 23 per cent of the new cancer cases globally in men that year. However, smoking alone was not the only cause; air pollution, depending upon the region, played a huge role. In East Asia itself, 15 per cent of lung cancer cases in women were attributed to air pollution. In Western Asia and Northern Africa, 20 per cent of lung cancer cases in men were due to air pollution.

After smoking tobacco, the next key lifestyle risk factor was drinking alcohol. It accounted for 3.2 per cent of all cancer cases—approximately 7 lakh. As per researchers’ estimates, drinking alcohol and smoking tobacco account for about 48 per cent of all preventable cancer cases. Infections, however, were associated with 10 per cent of new cancer cases. Among women, the largest share of these cases was attributed to high-risk human papillomavirus (HPV), which contributes to cervical cancer cases. However, with the HPV vaccine being more accessible, cervical cancer cases have reduced.

Can smoking give you stomach cancer?

Stomach cancer cases are higher among men and are mostly associated with inadequate sanitation, smoking, infections, and poor access to clean water. A first-of-its-kind analysis, this study helps show how much cancer risk comes from preventable causes. By examining these patterns, countries can be alerted to work towards preventing cancers in the first place by taking appropriate steps.

Researchers also mentioned in their paper that 4 in 10 cancer cases in the world in 2022 could have been prevented by eliminating the risk factors considered in the study. The study was published in the Nature Medicine journal.