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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.
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Supreme Court on Friday declared the right to menstrual health as part of the right to life under Article 21 of the Constitution. The court issued a slew of directions to ensure that every school provides biodegradable sanitary napkins free of cost to adolescent girls. The guidelines also ensured that schools must be equipped with functional and hygienic gender-segregated toilets. The Court directed the pan-India implementation of the Union's national policy, 'Menstrual Hygiene Policy for School-going Girls' in schools for adolescent girl children from Classes 6-12.
Read: Menopause Clinics Explained: Latest Launch By Maharashtra And Kerala Government
A bench comprising Justice JB Pardiwala and Justice R Mahadevan passed the following directions:
The court also issued directions for the disposal of sanitary waste. Justice Pardiwala said, "This pronouncement is not just for stakeholders of the legal system. It is also meant for classrooms where girls hesitate to ask for help. It is for teachers who want to help but are restrained due to a lack of resources. And it is for parents who may not realise the impact of their silence and for society to establish its progress as a measure in how we protect the most vulnerable. We wish to communicate to every girlchild who may have become a victim of absenteeism because her body was perceived as a burden when the fault is not hers."
Read: Menstrual Cups To Replace Sanitary Napkins In Karnataka Government Schools
In India, menstruation is still seen as taboo. In fact, there is a lot of shame around it. Menstrual shame is the deeply internalized stigma, embarrassment, and negative perception surrounding menstruation, which causes individuals to feel unclean, or "less than" for a natural biological process. This judgment thus is an effort to do away with the shame rooted in cultural, social, and religious taboos, which is often the reason why many girls drop out, or due to lack of awareness, develop health adversities.
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Most health videos on YouTube, even those made by doctors are also not reliable medical information, found a new study, published in JAMA Network Open. The researchers reviewed 309 popular YouTube videos on cancer and diabetes and found that fewer than 1 in 5 were supported by high quality scientific evidence. About two-thirds of the view had low, very low or no evidence at all to back up their health claims.
What was more concerning is that weaker evidence often attracted more viewer than those backed with strong science. The study looked at videos which had at least 10,000 views. The lead author of the study Dr EunKyo Kang of South Korea's National Cancer Center, said, "This reveals a substantial credibility-evidence gap in medical content videos, where physician authority frequently legitimizes claims lacking robust empirical support."
"Our findings underscore the necessity for evidence-based content-creation guidelines, enhanced science communication training for health care professionals, and algorithmic reforms prioritizing scientific rigor alongside engagement metrics," Kang added in a news release.
The researchers reviewed videos from June 20 and 21, 2025, focusing on cancer and diabetes content. 75 per cent of them were made by physicians. The videos had a median count of 164,000 views and a median length of 19 minutes.
Researchers also developed a scoring system, called E-GRADE to rate the strength of science backed evidence in each video's claim.
The study also found that videos with the weakest evidence were 35% more likely to get higher views than videos with strong scientific evidence.
Richard Saver, a professor of law at the University of North Carolina at Chapel Hill noted that this issue is not just limited to YouTube. "Physician-spread misinformation is a long-standing problem, dating back well before the internet era," he wrote in an accompanying editorial.
Saver said some doctors continue to lean on personal experience rather than solid data, despite evidence-based medicine being regarded as the gold standard. He noted that EBM can feel like it downplays individual clinical judgment. Still, Saver stressed that more research is needed, adding that the study underscores the importance of examining the evidence behind health professionals’ claims on social media.
Health and Me has always stayed a step ahead from medical misinformation and ensured that its readers too consume correct information. Health and Me's Fact Check series have consistently ran checks on bizarre medical claims, whether it is about a magical potion for weight loss, fake health news, or un-scientific remedies.
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The World Health Organization (WHO) noted that menopause often goes unnoticed as a clinical priority, observing these unmet needs, the state governments in Maharashtra and Kerala will soon launch government-run menopause clinics. These clinics will have specialized support systems designed to offer holistic healthcare services for menopausal women within the public system.
These clinics will also have medical consultations, mental health counselling, targeted screening services and lifestyle guidance.
Menopause clinics are specialized healthcare units, usually housed in government hospitals, urban health centres or district hospitals, that focus on both the medical and emotional needs of women transitioning through menopause. Rather than brushing menopause aside as a “natural” phase that needs little attention, these clinics offer organized, evidence-based care that goes well beyond routine outpatient visits.
At the heart of a menopause clinic is a comprehensive, integrated approach that includes:
By bringing these services together under one roof, menopause clinics help women cope with day-to-day symptoms while also addressing long-term risks like osteoporosis, metabolic changes and a higher likelihood of cardiovascular disease.
This is the natural, permanent end of menstruation defined as 12 consecutive months without a period. This typically occurs between ages 45 to 55.
Including these foods in your diet could help ease symptoms and reduce your risk of certain menopause-related conditions.
A nutrient-packed, balanced diet is the foundation of good health at any age. Prioritize:
Earlier this January, the Maharashtra government rolled out the country’s first state-run menopause clinics across government hospitals and urban health facilities. The initiative was launched on Makar Sankranti, January 14, under the guidance of Minister of State for Health Meghna Bordikar.
As per official statements, these clinics are designed to offer end-to-end care in one place. Services include expert medical consultations to evaluate and manage menopausal symptoms, mental health support to address emotional and psychological concerns, and screenings for bone health, cardiovascular risk and hormonal balance. Medicines and follow-up advice are also provided during the same visit, cutting down the need for multiple referrals and repeat hospital trips.
A senior health official pointed out that while menopause is a natural life stage and not a disease, many women need consistent physical and emotional support during this transition. The strong response from women across Maharashtra highlights a long-standing gap in healthcare, where menopause-related concerns often went unaddressed due to the absence of dedicated services. With this move, Maharashtra has also set an example for other states looking to introduce gender-specific care within public health systems.
Read: Can Your Diet Affect Menopause?
Taking a cue from Maharashtra, the Kerala government has announced plans to set up specialized menopause clinics in district hospitals. An initial allocation of Rs 3 crore has been earmarked for the project in the 2026 state budget, presented by Finance Minister K N Balagopal.
The proposed clinics in Kerala will follow a similar model, offering medical consultations for menopausal symptoms, mental health counselling, and screenings for heart, bone and hormonal health. Women will also receive medicines along with lifestyle and dietary advice at a single facility.
The initiative acknowledges the wide-ranging impact of menopause, including hormonal changes, sleep disturbances, bone health issues and increased stress, and aims to create a one-stop support system within district hospitals. By bringing menopause care into mainstream public healthcare, Kerala hopes to improve access, reduce stigma and ensure that women receive timely, structured support during this phase of life.
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