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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.
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.
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.
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.
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.
Credit: Jessie J/ Instagram
British pop star Jessie J has shared an update on her recovery after undergoing a second breast reconstruction surgery.
The 38-year-old singer-songwriter took to Instagram to share a series of photos, including one taken after her latest surgery. In the picture, she is seen wearing a hospital gown and giving a thumbs-up, with the caption, “to healing.”
The post marks Jessie’s first update since September, when she announced she would be taking a break from social media ahead of her surgery.
Jessie was diagnosed with early-stage breast cancer in 2025 and underwent a mastectomy. She announced in May 2026 that she was cancer-free.
Sharing the emotional news on Instagram, she admitted she "sobbed for hours and then exhaled for the first time in a year."
Also read: World Breast Cancer Day 2026: Life After Breast Cancer, The Fear No One Sees
Jessie announced her diagnosis in June 2025, shortly after performing at Capital’s Summertime Ball at London’s Wembley Stadium. She spoke candidly about her diagnosis and the surgery she would undergo.
In a video message, she shared that she had been “in and out of tests” before receiving a diagnosis of early breast cancer.
“Cancer sucks in any form,” she said, adding that she was holding on to the word “early.”
Using her characteristic dark humor, she described the surgery as “a very dramatic way to get a boob job” and told her followers, “I will come back with massive boobs and more music.”
However, she also spoke openly about the emotional toll of the diagnosis, saying, “I need to process it and talk about it” and “I need a hug.”
Breast reconstruction surgery aims to restore the shape and contour of the breast after a mastectomy, which involves removing the entire breast. Depending on the cancer and the treatment plan, nearby skin and lymph nodes may also be removed.
Following a mastectomy, patients may choose breast reconstruction to restore breast shape and symmetry. The procedure can be performed at the same time as the mastectomy or at a later date, depending on the patient's circumstances and treatment plan.
Read More: Experts Explain Most Overlooked Breast Changes That Can Delay Diagnosis In Men
According to the American Cancer Society, breast reconstruction often involves more than one operation. The number and type of procedures depend on the reconstruction method, the patient's needs and the desired outcome.
There are two main types of breast reconstruction:
In some cases, surgeons combine the two approaches.
Reconstruction may be immediate, taking place during breast cancer surgery, or delayed until a later date. Both implant-based and tissue flap reconstruction can be performed using either approach.
After the initial reconstruction, some patients may undergo additional procedures to refine the breast's appearance or feel. These may include fat grafting, scar revision or procedures to recreate the nipple and areola, sometimes using medical tattooing.
Breast reconstruction can help restore breast shape and symmetry after a mastectomy. For some patients, it may also improve body image, confidence and emotional well-being. However, the benefits vary from person to person.
As with other surgical procedures, breast reconstruction carries potential risks and complications, including:
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Low-dose naltrexone has received plenty of attention as a strong candidate for treating people with chronic fatigue after COVID-19. But a new randomised clinical trial has found no significant improvement in fatigue, pain or any other symptoms when compared to a placebo.
The study, posted on medRxiv, examined low-dose naltrexone (LDN) in adults with post-COVID fatigue syndrome. The findings challenge hopes that an existing repurposed drug could provide relief for people whose symptoms have not subsided months after infection.
The paper has not yet undergone peer review, which means its findings have not been independently evaluated in a formal manner.
160 adults aged 19 to 69 from British Columbia and Ontario, Canada participated in the trial. Participants had developed symptoms that resembled myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) after a SARS-CoV-2 infection.
Researchers randomly assigned participants either low-dose naltrexone or a placebo for 16 weeks. The naltrexone dose began at 1 milligram daily and increased to a maximum of 4.5 milligrams, depending on how participants tolerated the treatment.
The main outcome was fatigue severity, which was measured using the Fatigue Severity Scale. At the end of the study, the average fatigue score was 4.2 in the LDN group and 4.4 in the placebo group.
The difference between the groups was not statistically significant, meaning the trial proved that the drug did not improve fatigue.
Researchers also found no significant differences between the groups in pain, overall ME/CFS symptoms, daily step counts or any other health aspects related to quality of life.
These results suggest that LDN did not provide any measurable benefit for the participants. The study also found that LDN was generally well tolerated over the 16-week period.
However, adverse events classified as grade 3 or higher were reported in five participants in the LDN group, or 6.2%, compared with three participants in the placebo group or 3.8%.
Also read: 'I Never Recovered From That Crash': US Physicist Recalls Her Years-Long Battle With Long COVID
Naltrexone is an established medicine used at standard doses to treat alcohol use disorder and opioid use disorder. At much lower doses, it has been tested for conditions involving chronic pain, inflammation and fatigue.
LDN’s effects on immune signalling and inflammatory conditions have sparked interest in its potential use for long COVID, a condition that can involve fatigue, cognitive difficulties, pain, breathlessness and symptoms affecting several biological functions.
The findings apply specifically to adults with post-COVID fatigue syndrome who met the study’s criteria for ME/CFS-like symptoms.
Long COVID refers to symptoms that occur after a SARS-CoV-2 infection and cannot be explained by another diagnosis. Symptoms vary widely and may include fatigue, cognitive difficulties, breathlessness, sleep disturbances and problems with everyday activities.
Some people improve over time, while others experience prolonged illness that affects their ability to lead routine lives.
The results do not mean that long COVID symptoms are untreatable. Instead, they highlight how difficult it can be to identify effective treatments for a condition with varied symptoms.
There are currently no FDA-approved medicines specifically for long COVID, and care often focuses on managing individual symptoms.
People taking or considering naltrexone should discuss its benefits and risks with a healthcare professional rather than starting or changing treatment on their own.
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Low-dose aspirin could play a key role in lowering the risk of dementia significantly in some older adults, according to a new genetic analysis. However, the benefit does not come without a complication: major bleeding.
The study, led by researchers at Monash University in Australia, is based on data from more than 13,500 participants in the ASPREE trial, which investigated the effects of low-dose aspirin in older adults. The study was published in Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association.
Researchers found that the benefit was mostly seen among people with a specific genetic trait linked with platelet count.
Platelets are small blood components that help form clots and stop bleeding. Researchers have previously examined how aggregation of platelets might contribute to dementia, but the role of genetically influenced platelet counts still remains unclear.
The researchers examined genetic scores related to platelet count and compared dementia results among participants who were either assigned aspirin or placebo.
Among people in the highest 20% of platelet count genetic scores, dementia developed in 1% of those taking aspirin, compared with 3.3% of those receiving a placebo. This represented approximately a 70% lower risk.
Lead author Dr Peter Fransquet, a research fellow at Monash University's School of Public Health and Preventive Medicine, said, “Previous trials found aspirin didn't prevent dementia when everyone was considered together.”
“Our findings suggest there may be more to the story,” he said.
Also read: Trump Says He ‘Psychologically’ Needs To Pop Aspirin Every Day: But Is It Actually Safe?
The benefit was accompanied by a safety concern. Among participants in the same genetic subgroup, major bleeding occurred in 4.4% of those assigned to aspirin, compared to 2.1% of those given a placebo. That is a difference of 2.3 percentage points in both dementia cases and major bleeding events. In other words, the lower dementia rate cannot be considered in isolation from the increased bleeding risk.
Aspirin reduces the ability of platelets to form clots. This can be useful for certain people who need to take precaution against cardiovascular events, but it can also increase the risk of serious bleeding, including bleeding in the gastrointestinal tract or brain.
The study therefore does not prove that aspirin offers a favourable overall balance of benefits and harms for people with this genetic profile.
The researchers found that the genetic signal was not linked to established genetic risk factors for Alzheimer's disease and dementia. Instead, it pointed towards platelet factor as a possible direction for further research.
“What's particularly interesting is that the signal wasn't linked to the established genetic risk factors for Alzheimer's disease and dementia,” Fransquet said. “Instead, it's pointing us towards platelet biology and gives us a new avenue to investigate.”
The findings could contribute to more personalised approaches to dementia prevention, in which treatments are tailored to characteristics that influence how individuals respond. But the results need to be replicated in other populations and tested in a clinical trial specifically designed for people with the identified genetic profile.
Fransquet said, “People shouldn’t start taking aspirin to prevent dementia on the basis of this study without consulting with their doctor, particularly given the increased risk of serious bleeding,” he said.
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