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, doctors believed that menopause was the big trigger for heart-related changes in women. Turns out, that might not be the full story.

A new study, published in the journal Hypertension, found that something called pulse pressure starts rising in women as early as their late 30s. That's way earlier than the time most women hit menopause.

What Is Pulse Pressure?

Pulse pressure is just the gap between the two numbers you see in a blood pressure reading. The top one and the bottom one. As we age, this gap tends to widen. And when it widens too much, it's usually a sign that the aorta, the body's biggest blood vessel, is getting stiffer.

A stiffer aorta means your heart has to work harder to pump blood around your body. Over time, that extra strain adds up.

What Did The Study Find

Researchers looked at data from more than 9,500 people, over 6,500 women and around 3,000 men, all part of the Framingham Heart Study. This is one of the longest-running heart health studies in the world, and the participants were tracked across three health checkups over 14 years.

What they found was interesting. Pulse pressure hits its lowest point and then starts climbing about ten years earlier in women than in men. For women, this shift happens in the late 30s. For men, it's usually the late 40s. And by the time women reach around 60, their pulse pressure is consistently higher than men's.

This pattern showed up even when a woman went through menopause. Early, late, right on time, didn't matter. The rise in pulse pressure followed the same timeline regardless.

Gary F Mitchell, one of the researchers on the Framingham Heart Study, said the team was genuinely caught off guard by this. Menopause timing, it seems, wasn't the main thing driving the change; something else was clearly at play too.

"To our huge surprise, our results suggest that factors other than the timing of the final menstrual period were likely involved in the accelerated increase in pulse pressure in women after midlife," he noted.

Why This Actually Matters

Elevated pulse pressure isn't just a random number on a report. It's linked to a higher risk of heart disease, dementia, and even kidney disease. It can also make managing high blood pressure trickier, since some medications don't work as well once arteries get stiffer.

The bigger takeaway from this study is pretty simple. Women's heart health might need attention way earlier than we've been taught to think. Instead of waiting until menopause to start paying attention to cardiovascular health, doctors might need to start the conversation years earlier, around the late 30s.

So, if you're a woman in your 30s reading this, this isn't meant to scare you. It's just a reminder that heart health isn't something to put off until your 40s or 50s. A basic check on your pulse pressure now might tell you more than you'd expect.

Urine leakage when you cough, sneeze or exercise is often dismissed as something women simply have to live with after pregnancy or childbirth. But pelvic floor problems can affect both women and men and may interfere with daily activities, confidence, relationships and sexual health.

Many people quietly live with symptoms such as urine leakage, urgency, pelvic pressure or pain, while even those who seek medical help may not know the underlying cause. Speaking to HealthandMe, doctors said these can be signs of pelvic floor dysfunction — a treatable condition that should not be ignored.

Early identification and appropriate treatment can help prevent symptoms from disrupting everyday life.

What Is Pelvic Floor Dysfunction?

Pelvic floor dysfunction occurs when the muscles in the pelvis do not relax, contract or coordinate properly. These muscles support the bladder, bowel and reproductive organs.

According to the Cleveland Clinic, the pelvic floor muscles act like a supportive hammock. When they are too tight, weak or poorly coordinated, normal bladder, bowel and sexual functions can be affected.

Pregnancy and childbirth are important risk factors, but pelvic floor problems can also affect men. Symptoms may include urinary urgency or leakage, pelvic pain or pressure and bowel problems.

Other factors such as sedentary lifestyles, stress, obesity and constipation may be contributing to pelvic floor dysfunction.

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What Can Increase The Risk Of Pelvic Floor Problems?

Dr Nirmala M, Consultant, Obstetrician, Gynaecologist & Fertility Specialist, Motherhood Hospitals, Bengaluru, told HealthandMe that sedentary office work, stress, obesity and constipation can contribute to pelvic floor problems. Poor water intake and regularly holding urine can also play a role.

“It is seen that almost four of every five cases of incontinence observed in hospitals have been identified among young women aged 25 to 35 years old,” she said.

Pelvic floor dysfunction can affect men too, particularly in association with urinary, bowel or prostate-related problems.

Dr Meghana Reddy Jetty, Senior Consultant - Obstetrics, Gynecology, Laparoscopy and Aesthetic Gynecology, Aster Women and Children, Bengaluru, said men may also experience urinary leakage and bowel control problems, including in association with pelvic operations and prostatic procedures.

“Men have pelvic floor muscles too, which are responsible for bladder and bowel control and proper functioning of the pelvis,” she said.

What Are The Early Signs?

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Symptoms can vary depending on whether the pelvic floor muscles are weak, too tight or poorly coordinated.

Common signs include:

• Urine leakage while coughing, sneezing or exercising
• A sudden or uncontrollable urge to urinate
• Difficulty emptying the bladder or bowel
• Pelvic heaviness or pressure
• Pelvic discomfort
• Pain during intercourse

Dr Nirmala said urinary leakage during physical strain and a sudden, uncontrollable urge to urinate are among the early symptoms.

Dr Meghana said occasional urine leakage, difficulty emptying the bladder or bowel, pelvic heaviness, discomfort and pain during sexual intercourse can indicate that the pelvic floor is not functioning properly.

How Can Pelvic Floor Dysfunction Affect Daily Life?

The condition can affect more than bladder or bowel control. Fear of leakage, urgency or pain may cause people to avoid exercise, travel and social activities.

Dr Nirmala said some women avoid parties and long-distance travel because of difficulty finding a nearby bathroom. In serious cases, they may rely on diapers or sanitary pads, affecting confidence and increasing stress.

Pelvic floor dysfunction can also affect sexual health. Pain and difficulty relaxing the pelvic muscles may lead women to avoid sexual activity.

“It can hurt sexual health if pain and difficulty in relaxing pelvic muscles cause one to avoid sexual activity. This kind of problem that seemingly just involves the physical aspect can slowly but surely have a great effect on one's confidence, relationships and behavior in general,” said Dr Meghana.

Can Exercise Make Pelvic Floor Symptoms Worse?

Exercise can support pelvic health, but the type, intensity and technique matter.

Dr Swati Rai, Senior Consultant-Obstetrician and Gynecologist at Cloudnine Group of Hospitals, Noida, said exercises such as Kegels, diaphragmatic breathing, pelvic tilts, glute bridges and gentle core strengthening can help support the pelvic floor during and after pregnancy, depending on the individual.

“Kegels involve gently contracting the muscles used to control urine, holding briefly and then completely relaxing; they should not be routinely practized while urinating,” she told HealthandMe.

However, excessive or improperly performed high-impact exercise, intense interval training, repeated jumping and weightlifting can place additional pressure on the pelvic floor, particularly when breathing and core control are inadequate.

Dr Meghana said pelvic-floor training should focus on muscle control rather than simply increasing repetitions.

“So, training of pelvic muscles should be more about learning muscle control - knowing when to contract and when to relax - rather than just doing more and more repetitions,” she said.

Dr Swati said excessive straining, breath-holding or incorrectly performed high-impact exercises may aggravate symptoms.

Is Pelvic Floor Dysfunction Treatable?

Pelvic floor dysfunction can improve significantly with appropriate, personalized treatment. However, treatment depends on whether the muscles are weak, overly tight or poorly coordinated.

Treatment may include:

• Pelvic floor retraining
• Physical therapy
• Core strengthening
• Relaxation and breathing exercises
• Biofeedback

Noncommunicable diseases such as heart disease, cancer, diabetes and chronic respiratory diseases affect billions of people worldwide and cause around 43 million deaths every year, with most deaths occurring in low- and middle-income countries.

These conditions often require lifelong care. From diagnosis and medication to monitoring and follow-up, each stage can carry safety risks, making timely, coordinated and patient-centered care essential.

World Patient Safety Day is observed every year on September 17 to raise awareness about patient safety and accelerate action to reduce avoidable harm in healthcare. Around the world, one in 10 patients experience harm while receiving health care, and approximately half of these incidents are preventable.

In 2026, the campaign focuses on safe care for noncommunicable diseases (NCDs), with the slogan “Safe care for life!”

“World Patient Safety Day is an annual reminder that if it's not safe, it's not care. This year, we're shining a light on safe care for non-communicable diseases. People with heart disease, cancer, diabetes, and chronic respiratory disease need care throughout their lives,” Dr Tedros shared in a post on X.

He noted that every interaction with the health system comes with benefits and risks.

“A delayed diagnosis, the wrong medicine, an unsafe procedure, or poor communication can have deadly consequences. Safe care must be built into every stage of the care journey, from prevention and early diagnosis to treatment, long-term management, and self-care,” the chief added.

Also read: World Patient Safety Day: With 2800% Margin, Costly Hospital Consumables Can Threaten Patient Safety; Here’s How

Why Do Chronic Conditions Raise The Risk Of Harm?

People with chronic diseases often need medicines, tests, consultations and other healthcare services over many years, increasing safety risks, particularly when care is fragmented or healthcare providers are not well coordinated.

Patient safety risks can occur at different stages of care. Common sources include:

• Missed prevention opportunities

• Delayed or incorrect diagnosis

• Medication errors

• Healthcare-associated infections

• Unsafe use of medical devices

• Poor communication and coordination

How Can Patients With Chronic Diseases Stay Safe?

Understanding your diagnosis and treatment can help you take an active role in your care.

• Know your diagnosis, treatment plan and why tests or medicines are needed.

• Use trusted health sources and ask questions when something is unclear.

• Confirm instructions and follow up on test results.

• Speak up if something feels wrong.

• Keep an updated list of your diagnoses, medicines and treatment plan, especially when seeing multiple doctors.

• Attend regular appointments and know the warning signs that need medical attention.

• Plan how you will access essential medicines, tests and follow-up care during disruptions.

Continuity of care is particularly important for people with NCDs. Poorly coordinated referrals, handovers and discharge processes can create safety gaps, especially for those managing multiple conditions or medicines.

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Safer Care Also Depends On The Health System

Patient safety cannot be addressed by patients alone. Strong policies, coordinated healthcare services and well-supported health workers are essential to reducing avoidable harm.

Fragmented care can put people managing complex chronic conditions at greater risk. Better communication between multidisciplinary teams can help identify problems earlier and reduce gaps in care.

Delayed referrals can also cost valuable time. Well-coordinated referral pathways can help patients receive the right care at the right time.

What Should Healthcare Systems Do?

The WHO called on healthcare facility managers, health leaders and policymakers to strengthen patient safety as part of everyday NCD care. This includes building resilient facilities, strengthening risk management, supporting health workers and establishing reliable systems for continuous care before, during and after emergencies, according to the WHO.

Healthcare systems should also ensure uninterrupted access to essential medicines, diagnostics and medical devices while strengthening referral pathways and communication between healthcare providers.

Investing in preparedness, continuous learning and quality improvement can further help reduce avoidable harm and improve the safety and quality of chronic disease care.