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 study of more than 700 individuals found distinct differences in the mix of bacteria in the mouths and lungs of those with severe long COVID.

Published in the European Respiratory Journal, the study found that differences in the lung microbiome were linked to respiratory problems, cognitive difficulties and digestive symptoms associated with long COVID.

The findings may help researchers understand why some people develop long COVID and identify potential treatments, according to the team from the University of Dundee, UK.

"The microbiome is important to maintain health throughout the body, so it is a strong candidate for something that may contribute to long COVID,” said lead author Dr. Daniela Alferes de Lima Headley.

What Did The Study Find?

Also read: XFG COVID Variant: What India Should Watch As Cases Rise In UK And France

The observational study included 771 adults who had been hospitalized for COVID-19 between February 2020 and March 2021. Researchers grouped participants according to the severity of their ongoing health problems and symptoms.

The participants had an average age of 57.5 years, and 38.5% were women.

Six months after hospital discharge, researchers collected saliva samples to examine microbes in the mouth and sputum samples to study the lung microbiome. They used DNA sequencing to identify the microbes and analyze their diversity. Participants also completed questionnaires about their symptoms.

The results showed that people with very severe long COVID had distinct differences in their oral and lung microbiomes compared with those who had fewer ongoing symptoms.

Microbiome differences were also associated with:

• • Respiratory problems: Reduced lung function.
  • Cognitive symptoms: Brain fog, memory problems, and difficulty with attention and concentration.
  • Digestive issues: Abdominal pain, nausea, diarrhea and loss of appetite.

Bacterial Changes Linked To Inflammation

Further, the changes associated with long COVID symptoms also included an increased abundance of bacteria that produce lactic acid. These changes were also linked to signs of inflammation in participants' blood samples.

James Chalmers, chair of respiratory research at the University of Dundee, said the greatest microbiome changes were found in people with the most severe symptoms five to six months after COVID-19.

"We also found that changes in the airway microbiome were linked not just to lung problems, but also to symptoms like brain fog and gut symptoms, suggesting the lung microbiome could have effects on health more broadly," he added.

However, the researchers do not yet know whether these microbiome differences existed before COVID-19 or developed after infection. The long-term effects of these changes also remain unknown.

Read More: COVID-19 May Raise Risk of 6 Allergic Conditions, Study Finds

Could The Findings Lead To New Treatments?

Chalmers said more research is needed to understand what causes long COVID, which continues to affect many people worldwide.

Because the microbiome can be altered through interventions such as antibiotics and probiotics, understanding its role could help researchers explore potential treatment options.

What Is Long COVID?

Long COVID refers to new, returning or ongoing health problems that persist four or more weeks after the initial COVID-19 infection. Symptoms can last for months or even years.

Common symptoms include fatigue, brain fog, memory problems, difficulty concentrating and slowed thinking.

Research has also suggested that brain inflammation may persist even after the virus is no longer detectable.

For some women with endometriosis, getting a diagnosis is only the beginning of a long struggle to access treatment and navigate management.

In Canada, long waitlists for specialist appointments are pushing patients to consider expensive surgery abroad, highlighting how delays in care can prolong pain and disrupt everyday life.

Noelle Menu, 37, from Calgary, said her symptoms intensified after she stopped taking birth control while trying to conceive at 26.

Years of pain, emergency room visits, surgery and delays in specialist care eventually led her and her husband to seek private treatment in Tijuana, Mexico.

After being told that waiting several years to see a specialist in Canada was possible, Menu said: “We can’t deal with it in Canada.”

The couple used their savings and went into debt to pay for treatment at EndoGlobal in Mexico. The total cost was approximately $35,000, including travel, accommodation and other expenses, according to CBC News.

Her experience highlights the delay in addressing endometriosis that can intensify debilitating symptoms.

What Is Endometriosis And Why Can It Be Difficult To Diagnose?

Endometriosis is a chronic condition in which tissue similar to the lining of the uterus grows outside it, potentially affecting the ovaries, bowel, bladder and other areas. The resulting inflammation and scar tissue can cause severe menstrual cramps, persistent pelvic pain, painful sex, bowel or urinary symptoms and difficulties conceiving.

The World Health Organization estimates that endometriosis affects around 10% of reproductive-age women worldwide, or approximately 190 million people.

Diagnosis can be challenging because symptoms vary and may overlap with other conditions. There is no single definitive test that identifies every case. Doctors may use a detailed medical history, pelvic examination, ultrasound or MRI, with surgery sometimes needed to investigate or treat suspected disease.

The WHO estimates that diagnosis commonly takes between four and 12 years, leaving many patients managing symptoms without a clear explanation for prolonged periods.

Also read: Endometriosis: Repurposed Anti-Parasite Drug Shows Promise In Mouse Study

How Do Delays Affect Patients?

For patients with severe disease, waiting for specialist care can mean continuing to live with pain that interferes with work, relationships, sleep and fertility plans.

Another Canadian patient, identified in CBC's report as Papiernik, described discovering that endometriosis had infiltrated her colon after a colonoscopy detected a mass. She was referred for specialist care but faced further waits for an appointment and surgery.

“Living like this for two years was just not an option for me,” she said.

Canada's House of Commons health committee has identified gaps in endometriosis care, while the condition's economic impact includes lost productivity and healthcare costs. The issue is not simply whether treatment exists, but whether patients can access appropriate care before symptoms and complications become harder to manage.

Also read: Urine & Vaginal Samples May Help Detect Womb Cancer: Lancet Study Suggests Less Invasive Way To Triage Patients

Does Surgery Cure Endometriosis?

Surgery can remove endometriosis lesions, adhesions and scar tissue, reducing pain and treating complications. However, it is not a guaranteed cure. Symptoms may persist or return, and treatment decisions depend on disease severity, the organs involved, fertility goals and previous treatment.

Hormonal medicines and pain management can also help control symptoms. Some patients benefit from a combination of medical treatment, surgery and ongoing follow-up.

Travelling abroad may offer faster access to specialist treatment, but it comes with financial costs and other challenges. Patients should consider the surgeon's experience, the facility's standards, the possibility of complications and arrangements for follow-up after returning home.

A routine heart scan helped doctors detect pancreatic cancer in a 72-year-old US woman before it was too late. Vicky Titcomb, a Cape Cod bookstore owner and great-grandmother, underwent the scan at Mass General Brigham in March 2025, before traveling to New York City to visit her son.

Although she felt healthy, the scan revealed an abnormality on her pancreas. Further testing confirmed pancreatic cancer, one of the deadliest forms of cancer, CBS News reported.

“I felt like my life just switched in that moment,” Titcomb said. “It was a very weird feeling.”

Titcomb had undergone treatment for breast cancer in 2012.

In 2025, she was diagnosed with stage 1 breast cancer as well as pancreatic cancer. Doctors also found a mass on her ovary, which proved benign after the ovary was removed.

Why Early Detection Matters In Pancreatic Cancer

Also read: Daraxonrasib: US FDA Approves Once-Daily Pill for Metastatic Pancreatic Cancer

Pancreatic cancer is often diagnosed after it has spread to other organs. Its five-year overall survival rate is 13%.

The American Association for Cancer Research noted in its 2026 Cancer Progress Report that pancreatic cancer survival rates have shown little improvement despite advances in cancer care.

Doctors at Mass General Brigham planned chemotherapy and radiation to shrink Titcomb’s pancreatic tumor before surgery.

“I was told the size of the (pancreatic) cancer was about the size of a grape. The goal, to me, was trying to make this cancer a raisin,” she said. “That's the way I visualized it.”

The plan was to perform a Whipple procedure, a complex operation that removes the head of the pancreas, part of the small intestine, the gallbladder and the bile duct. Only about one in five pancreatic cancer patients is eligible for this surgery.

Titcomb’s early diagnosis made the operation possible.

“If I had not had that scan when I did, the outcome would have been bad,” she said.

Chemotherapy, Radiation And Surgery

Read More: Moderna-Merck’s Personalized mRNA Vaccine: Ushering In A New Era In Cancer Care?

Titcomb began chemotherapy in June 2025, receiving eight doses over four months. She then underwent three weeks of radiation and additional chemotherapy.

Surgical oncologist Dr. Thomas Clancy said she tolerated the treatment “very well.” The therapy shrank the pancreatic tumor enough for surgery.

On November 4, Titcomb underwent surgery to treat her breast cancer. Just over two weeks later, Clancy performed a robotic Whipple procedure to remove the affected part of her pancreas and other structures.

The operation was successful, and Titcomb said she was walking that night. She returned home after several days in the hospital.

Although she was recovering well, Clancy recommended two more months of chemotherapy because pancreatic cancer can be aggressive.

“There was a lot going on,” Titcomb said. “I just tried to cope with the day-to-day.”

No Evidence Of Cancer After Treatment

In March 2026, after further treatment, Clancy told Titcomb she had no evidence of cancer. She will continue to undergo scans every three months.

“She’s living her life. I generally tell patients at this point, ‘You’re done with therapy ... you go about your days,’” Clancy said. “The goal is to not be thinking about it all the time.”

Titcomb is returning to running her bookstore, which family members helped manage during her treatment. She is also spending time with her children, grandchildren and great-grandchildren, keeping in touch with those who live far away through photos, videos and phone calls.