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.

A new Ontario study revealed that there has been a 157 percent increase in the prescriptions for stimulant medications used to treat attention-deficit hyperactivity disorder (ADHD). The study noted that the prescriptions skyrocketed between 2015 to 2023. This means the prescriptions have increased four times each year from 2020 to 2023, as compared to 2015 to 2019, linked pandemic and mental health conditions to be a reason for the same. The study is published in JAMA Network Open. Researchers at ICES, the non-profit group formally known as the Institute for Clinical Evaluative Sciences in Toronto, along with North York General Hospital and the Hospital for Sick Children.

Growth Accelerates After the Pandemic

According to the study, prescription rates began climbing steadily before the pandemic but accelerated sharply from 2020 onward. Between 2020 and 2023, stimulant prescriptions rose nearly four times faster each year compared with the period between 2015 and 2019. This shift suggests that life disruptions during lockdowns may have pushed many people to seek help for long-standing attention and focus struggles.

Using data from Ontario’s Narcotics Monitoring System, the researchers tracked prescriptions for stimulant medications, the primary treatment for ADHD. These drugs increase dopamine and other chemicals in the brain, helping people concentrate, regulate emotions and think more clearly.

The overall result was a 157 percent rise in new stimulant prescriptions over eight years.

Women See the Largest Increase

The most striking finding is how dramatically rates have increased among women. Women between 25 and 44 saw a surge of more than 420 percent. For men in the same age group, the increase was nearly 220 percent. Younger women also experienced a major rise, with prescriptions up almost 370 percent among those aged 18 to 24.

By 2023, women over the age of 18 were receiving stimulant prescriptions at higher rates than men, reversing long-standing patterns in ADHD diagnosis and treatment. Historically, boys and men have been diagnosed more often because the condition has been viewed through a male-focused lens.

Experts say this makeover in the data reflects a deeper shift in understanding ADHD in females. Girls often present with symptoms of quiet inattention rather than the hyperactivity commonly seen in boys. Because they tend not to disrupt classrooms, they are frequently overlooked and reach adulthood without a diagnosis.

Pandemic, Social Media and Online Clinics Play a Role

Heidi Bernhardt, founder of the Centre for ADHD Awareness Canada, says the pandemic played a major role in changing how people experienced and recognized ADHD symptoms. With routines disrupted and support systems diminished, many adults began to notice difficulties that had been manageable before.

At the same time, TikTok, Instagram and other social platforms created a surge in conversations about neurodiversity. Online mental health services also became more accessible, making it easier for adults to pursue an assessment, sometimes for the first time in their lives.

Awareness Helps, But Misdiagnosis Is a Concern

Specialists welcome the fact that more women are now being correctly diagnosed. Dr. Anita Parhar of the ADHD Centre for Women says the rising prescription rates show that women are finally being acknowledged and treated for symptoms they may have lived with for years.

But researchers also caution that the rapid increase raises the possibility of misdiagnosis. Some symptoms linked to ADHD can overlap with anxiety disorders or other mental health issues. When ADHD is diagnosed incorrectly, the underlying condition may go untreated.

Pediatrician and ADHD specialist Jane Liddle notes that failure to treat true ADHD carries its own risks. Untreated ADHD is associated with higher rates of anxiety, depression, academic problems and addiction.

As prescriptions continue to rise, experts say the priority should be ensuring accurate diagnosis and access to appropriate care, especially as awareness of ADHD continues to evolve.

As 2025 comes to an end, one thing is clear, this year has been a year of remarkable shifts in how we understand health. This year, there have been breakthroughs, redesigns, and achievements in the healthcare sector, which has changed many lives. Scientists and doctors have pushed their boundaries in ways to save lives, make patients more comfortable and Health and Me lists down 5 such breakthroughs that defined the year 2025.

Reinventing Speculum: The Flower That May Transform Pelvic Exams

Few medical tools have stayed as frozen in time as the vaginal speculum. Cold, metallic, and intimidating, its origin traces back to Dr. James Marion Sims in the mid-19th century, during experiments carried out unethically on enslaved women. Beyond its history, patients have long reported pain, anxiety, and emotional distress linked to it. But this year, a young design team dared to ask what would happen if pelvic exams could feel safe.

Enter Lilium, a flower-inspired speculum created by Delft University engineers Tamara Hoveling and Ariadna Izcara Gual. Made with soft plastic and shaped to bloom like a lily, it opens gently, eliminates the harsh clicking sound, and uses a tampon-like applicator for insertion. Designed to feel familiar and symbolically comforting, Lilium represents a shift toward trauma-informed, patient-first gynecological care—something long overdue.

Zaynich: India Launches Its First New Antibiotic in 30+ Years

For 28-year-old Sahil Mehra from Mumbai, a severe, drug-resistant Pseudomonas infection left his kidneys failing and his doctors nearly out of options. Even last-resort antibiotics couldn’t stop the superbug.

Then came Zaynich, India’s first new antibiotic in more than three decades. Developed by Wockhardt, it combines cefepime, a fourth-generation cephalosporin, with zidebactam, a novel β-lactam enhancer that boosts the drug’s power against tough bacteria. Early reports and trials suggest a 97% effectiveness against drug-resistant Gram-negative bacteria and even a 20% higher cure rate than meropenem in Phase 3 studies. Within four days of receiving Zaynich, Mehra’s condition stabilized—a reminder of why antibiotic innovation is essential in the age of superbugs.

A Powerful Cholesterol-Lowering Pill Could Change Heart Care

High LDL cholesterol remains one of the biggest drivers of cardiovascular disease. While statins help, many people never reach target levels. Injectable PCSK9 inhibitors work well but remain expensive and less accessible.

This year, an experimental daily pill—enlicitide—showed promise of changing that equation. In the Phase 3 CORALreef Lipids trial involving 2,912 adults, enlicitide reduced LDL-C levels by 55.8% at 24 weeks, with post-hoc analysis suggesting reductions up to 59.7%. With a safety profile similar to placebo, enlicitide could become the first oral PCSK9 inhibitor to make potent cholesterol control easier and more widely available.

Zombie Cell: A Longevity Pill From China Claims Life Up to 150 Years

A Shenzhen-based biotech company sparked global debate by claiming it has developed a pill that targets ageing at the cellular level. The pill focuses on clearing “zombie cells”—old cells that refuse to die and trigger inflammation. Made with compounds derived from grape seeds, early animal lab work suggests potential lifespan extension. While far from proven in humans, the idea that such a pill could stretch life to 120–150 years captured the world’s imagination and intensified conversations around longevity science.

The World’s First Single-Dose Dengue Vaccine Gets Approved

With dengue cases hitting record levels globally, Brazil approved the world’s first single-dose dengue vaccine, called Butantan-DV. Developed by the Butantan Institute in collaboration with Wu Xi, it uses a live attenuated virus and is currently approved for ages 12 to 59. Until now, the only dengue vaccine required two doses months apart. This single-shot version could transform dengue prevention, especially in tropical countries facing surges linked to rising temperatures.

Recently the news of Norovirus outbreak in an AIDA cruise that has infected more than 100 guests and crew on board made news. This is the 21st outbreak, as confirmed by the Centers for Disease Control and Prevention (CDC). This case has brought back memories from the Royal Caribbean Cruise outbreak, where 94 out of 1,874 and 4 crew members also were infected by Norovirus.

This virus is also known as the 'rib-cracking' winter virus, which sets it apart from rest of the winter viruses. People who have been sickened by this contagious virus are vomiting explosively, which may make the sufferers to experience a cracking in their ribs, which is where it gets its name 'rib-cracking' winter virus.

What Is Norovirus? What Makes It So Unique?

The virus typically spikes after the holidays, when families gather indoors. However, new data from the Centers for CDC shows this year’s surge has arrived weeks ahead of schedule, and experts say there’s no obvious explanation yet.

According to the CDC, 12.5 percent of norovirus tests came back positive during the week of November 22, nearly identical to the 13 percent positivity rate the week before. Compared to two weeks earlier, infections have jumped by about 25 percent. But the real number of cases is likely far higher, as most people with norovirus never get tested.

Between August 1 and November 13, health officials recorded 153 norovirus outbreaks, more than double last year’s 69 during the same period, and far above the 65 reported in 2023.

The CDC estimates the U.S. sees around 2,500 outbreaks every year. An outbreak is recorded when two or more people fall ill from a suspected or confirmed shared source.

On cruise ships, which are closely monitored by federal agencies, outbreaks have also been climbing. The AIDAdiva, a German vessel currently on a long global route, recently reported a spike in cases. In a statement to USA TODAY, AIDA Cruises said it has increased hygiene measures on board and that infections are already declining.

“Seasonal illness peaks between November and April, and the AIDAdiva report reflects what we’re seeing on land,” the cruise line said.

Why Norovirus Hits So Hard

Norovirus infects roughly 21 million Americans every year and sends about 2 million to hospitals or clinics. It spreads easily through contaminated food, surfaces, shared utensils, or direct contact with an infected person. Even a tiny amount of virus can trigger illness.

Symptoms usually appear within 12 to 48 hours and include nausea, vomiting, diarrhea, stomach cramps, and sometimes fever and chills. The biggest danger is dehydration, which can set in quickly. Severe fluid loss can lead to low blood pressure, reduced organ perfusion, electrolyte imbalances, and in extreme cases, seizures or fainting.

The virus contributes to about 900 deaths in the U.S. annually, mostly among older adults.

Doctors emphasize that hand sanitizers don’t reliably kill norovirus. Frequent handwashing with soap and water is the best protection.

The season’s lowest positivity rate was recorded in early August at 6.5 percent. But with holiday travel and gatherings underway, health officials warn infections are likely to rise.

What Are The Symptoms Of Norovirus And How Long Do They Last?

• Nausea
• Vomiting
• Stomach pain or cramps
• Watery or loose diarrhea
• Feeling ill
• Low-grade fever
• Muscle pain

The symptoms usually begin 12 to 48 hours after your first exposure to the virus and could last from 1 to 3 days. You can, however, continue to shed virus in your stool for several week after your recovery. The shedding could go up for months if you have another medical condition.