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.

Selena Gomez recently opened up about being wrongly diagnosed for her mental health issues. The 33-year-old singer said that she was "misdiagnosed" before she ultimately received her bipolar disorder diagnosis.

She, along with her husband appeared on the podcast Friends Keep Secret, and said that she knew something was wrong with her. "I knew something was wrong, but I think I was misdiagnosed," Gomez said. "People were just assuming, and I would try multiple therapists. And that’s why it’s hard. It’s actually really hard when we’re talking about these things. And for me to go get a therapist, all of it is so f***ing complicated."

Going on to explain that finding the right diagnosis and treatments took going through "multiple different people," Gomez emphasized how important it was to remember that "you can’t just give up." Gomez also said she underwent therapies at four different rehabs, which helped her understand her diagnosis - a chronic mental health condition characterized by severe mood swings, alternating between extreme emotional highs and lows.

Therapy Should Not Be Shamed, Says Gomez

Gomez also slammed people who shame the idea of therapy. She said those people are hypocrites. "That's the problem with misconceptions," she said. "The whole hypocrisy of shaming people for therapy or people not understanding it is that it’s just not for you. That’s completely fine, but for me, it finally allowed me to go, ‘Oh, that’s why I handled things the way I handled them. That’s why all the other people were able to get over things so quickly, and I wasn’t.'”

“I would act out of fear, I would act out of love, I would act out of passion,” she added.

What Is Bipolar Disorder?

As per the American Psychiatric Association (APA), bipolar disorders are mental health conditions characterized by periodic, intense emotional states affecting a person's mood, energy and ability to function. APA notes that these periods, lasting from days to weeks, are called mood episodes.

Mood episodes are categorized as manic/hypomanic episodes when the predominant mood is intensely happy or irritable, or depressive episodes, when there is an intensely sad mood or the ability to experience joy or pleasure disappears. People with bipolar disorder generally have periods of neutral mood as well. When treated, people with bipolar disorder can lead full and productive lives.

But Don't Mood Fluctuations Happen To People Without The Disorder?

APA notes that while people without bipolar disorder could also experiences mood fluctuations, they are part of commonly lived experience and typically last hours rather than days. These mood fluctuations are also not accompanied by extreme changes in behavior or changes in functioning, such as difficulties with daily routines and social interactions. Bipolar disorder could also disrupt a person's relationships with loved ones and cause difficulty in working or going to school.

What Causes Bipolar Disorder?

Bipolar disorder usually runs in families, as 80 to 90 per cent of cases come from a relative with bipolar disorder or depression.

Environmental factors such as stress, sleep disruption, and drugs and alcohol may trigger mood episodes in vulnerable people. Though the specific causes of bipolar disorder are unclear, there are both biological factors, including a family history of mood disorders, psychotic disorders, and substance misuse, and environmental factors that increase the risk for bipolar disorder. The average age of onset is in the mid-20s.

This Is Endometriosis, a 2024 intimate, expressive film by Georgie Wileman and Matt Houghton won a BAFTA Award 2026 for Best British Short Film. This 19.27 minute long film shows how Georgie was robbed of her time due to endometriosis. The film sets in present-day narrative with memories from her past.

Endometriosis is a condition, that Georgie notes is often dismissed by many doctors as just "painful periods". However, her film portrays how truly disabling this medical condition. It is a condition in which cell similar to the lining of the uterus or the endometrium, grow outside the uterus. It affects 1 in 10 born with a uterus and could cause pain, often "worse than the last stages of child labour", notes thisiseno.com, the official website of the short film. Around 190 million people worldwide are impacted by the condition, however, what the film points out is how "dangerously underfunded, under researched and misinformed" doctors continue to remain despite the condition being so widespread.

Read: A Woman Lost Her Ovary To Endometriosis Surgery After Receiving An Ultimatum From Gynecologist

A Film That Documents Personal Struggle

Georgie, while accepting the award wore a symbolic blood-red gown. She said, "It was surreal and beautiful. Knowing how much this win would mean to the [endometriosis] community made it an emotional moment."

She points out that it is more than just a "painful period" and that "It is a full body disease. It important for people to understand the severity of the pain – it’s widely considered to be worse than childbirth." What is shocking is that it takes an average of eight to 10 years to be diagnosed.

She shares being "bed-bound for three months" when she was only 13. She said it first got "really bad" and she was not believed for long time. "It took me a long time to even believe myself. I was just so angry at my body for not working."

While she had been in and out of wheelchair, she was not formally diagnosed with endometriosis until she was 26, and then at 29, she was diagnosed with its 'sister disease' adenomyosis. She has undergone seven surgeries for her endometriosis and a hysterectomy for adenomyosis.

Read: Keltie Knight Was Gaslit By Doctors For Years Before Getting A Hysterectomy

In 2020, after years of feeling dismissed by doctors and watching her condition be misunderstood in the media, she decided she had had enough. That frustration pushed her to tell the story herself.

“It began as a photography project,” Wileman says. “And it meant a lot to people because, for the first time, they felt their experiences were being shown truthfully.”

But she soon realized that still images could only go so far. “There’s only so much a photograph can capture,” she adds.

Why Does It Take So Long For An Endometriosis Diagnosis?

A study published in Obstetrics and Gynecology journal looks at the factors of what leads to such a delay in endometriosis diagnosis. Researchers identified that factors include normalization of menstrual pain, the diversity of symptoms, and a lack of training and prompt referrals among healthcare professionals lead to this delay.

At an individual level, the researchers found that many women struggled to tell the difference between “normal” period pain and something more serious. A common belief was that painful periods were simply part of being a woman and had to be endured. As a result, many relied on self-care measures and delayed seeking medical help, which likely pushed back the timeline for an endometriosis diagnosis.

On an interpersonal level, stigma played a powerful role. Menstrual problems were often seen as too private or embarrassing to talk about. At the same time, society’s tendency to normalize period pain meant that symptoms were minimized, both by those experiencing them and by people around them. This silence and normalization further contributed to delayed diagnoses.

Barriers also existed within the healthcare system itself. Some participants said their general practitioners dismissed their concerns or appeared unfamiliar with endometriosis. Healthcare professionals involved in the study acknowledged gaps in their own training and pointed out the lack of clear clinical guidelines for diagnosing the condition.

Doctors also noted that endometriosis symptoms can overlap with other disorders, making it harder to identify. Diagnosis is particularly challenging because there is no simple, noninvasive test that can confirm the condition with certainty. Delays in referrals were common. One contributing factor was the widespread belief that laparoscopic surgery is the only definitive way to diagnose endometriosis. Some healthcare providers also questioned how useful a formal diagnosis would be, which further slowed the process.

Dr Sophie Davenport, a doctor in England who conducted the research as part of her Master of Public Health dissertation, emphasized that the problem is layered and requires solutions at multiple levels.

“The key highlights of the data are that delays to diagnosis exist throughout the journey,” she explained. “We need to address these at different levels — from society understanding what ‘normal’ menstruation looks like and being open about menstrual problems, to clinicians being well educated, up to date on how endometriosis presents and diagnosed, and truly listening when patients say their periods aren’t normal.”

Squirrels could be natural hosts of the mpox virus (MPXV) -- that causes monkeypox disease -- according to a recent study by German researchers.

The team from the Helmholtz Institute for One Health (HIOH) identified the fire-footed rope squirrel (Funisciurus pyrropus) as a likely natural reservoir of the MPXV.

The study published in the journal Nature revealed that sooty mangabeys – a primate found in West Africa -- can contract mpox by eating infected squirrels. The disease may present mild lesions, but it can also cause more severe skin lesions or even be fatal.

"Identifying the animal sources of the virus and the exposure routes that lead to inter-species transmission are key steps towards understanding spillover mechanisms and developing effective prevention measures to mitigate the risk of transmission to humans," said Livia V. Patrono, one of the senior authors at HIOH.

Squirrels Suspected MPXV Hosts

While squirrels have long been suspected as potential reservoirs for MPXV, their role was confirmed after an investigation of an mpox outbreak among wild sooty mangabeys (Cercocebus atys) in Côte d'Ivoire.

During the outbreak, reported in early 2023, nearly one-third of the primates showed clinical signs of disease, and four infants died.

The team conducted viral genome sequencing and found that the infected monkeys carried a virus that was nearly identical to an MPXV strain identified in a fire-footed rope squirrel found dead 12 weeks earlier nearby.

Further, the team analyzed fecal samples from the mangabeys. A sample collected eight weeks before the outbreak's onset contained DNA from both the virus and the rope squirrel. This provided strong evidence of interspecies transmission at that moment.

Sooty mangabeys have been previously observed catching and eating fire-footed rope squirrels, which provide a direct route for the transmission of viruses.

Mpox Continues To Spread Globally

Although mpox is no longer a public health emergency, outbreaks of clade I and clade II strains of the mpox virus are continuing in many countries around the world, especially in Africa.

Last week, Madagascar announced the country's first death from mpox, a 3-year-old girl from the island nation’s eastern city of Toamasina.

The WHO has also confirmed that two cases of the recombinant strain – combining genomic elements of clades Ib and IIb of the monkeypox virus (MPXV) – have been identified to date: one in the United Kingdom and one in India.

Mpox is an infectious disease caused by the monkeypox virus (MPXV), part of the Orthopoxvirus genus, which also includes the virus that causes smallpox.

It spreads through close physical contact, including sexual contact, and in some cases through contaminated materials or respiratory droplets.

Symptoms typically include fever, swollen lymph nodes, rash, and/or lesions.

The global health body has also urged all countries to “remain alert to the possibility of MPXV genetic recombination.” It has also urged for continued epidemiological surveillance, sequencing, vaccination of at-risk groups, and infection prevention and control measures.