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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.
Chronic stress can take a toll on sperm count. (Photo credit: iStock)
Many men believe that as long as they feel healthy, active, and free from major illness, their fertility remains intact. While men do not have a sudden fertility cut-off like women, age still plays an important role when it comes to male fertility. Currently, a large number of men wish to start families later in life, often thinking their good health guarantees easy conception and fatherhood. They often neglect the age factor, even though it is linked to hormonal imbalance, stress, and genetic issues. A large number of men are unaware of their fertility health and continue to suffer. However, even in the absence of visible health problems, older men may face unexpected fertility challenges. Dr Madhukar J Shinde, Fertility Specialist at Nova IVF Fertility, PCMC, Pune, answered this for Health and Me.
Read more: The Overlooked Role of Men in IVF: Why Their Silent Strength Is Key to Fertility Success
Decline in sperm quality: Various studies have confirmed that as men age, sperm count, movement, and shape can slowly decline. Even if the numbers appear normal, DNA damage in sperm increases with age, which can reduce the chances of successful fertilisation.
Men must stay in touch with a fertility consultant who can design an appropriate treatment plan. The expert will evaluate them thoroughly and suggest lifestyle modifications such as a well-balanced diet, exercise, stress management through meditation, and medication for conditions such as diabetes, hypertension, and cholesterol. Awareness helps men take informed steps towards parenthood, even later in life. Certain pre-medications, including antioxidants advised by a fertility consultant, may significantly help in reducing DNA fragmentation, which contributes to poor sperm function. Therefore, men should prioritise their reproductive health, stay informed, and not suffer in silence.
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High blood pressure (BP) has become a public health problem that is driving cardiovascular diseases like heart attacks and strokes globally. While medications are important to keep hypertension under control, lifestyle changes and healthy practices are also crucial.
Several global health guidelines recommend regular physical activity, but adhering to exercise programs daily becomes a challenge for many people. But in the overtly busy schedules, sparing 10 minutes for an exercise regimen can be easier than travelling to the gym.
A large randomized clinical trial, published in the Journal of the American College of Cardiology (JACC), has proved that a traditional Chinese mind-body practice — baduanjin — may help lower blood pressure, that too, without any equipment.
Baduanjin is a slow, structured movement, focused on deep breathing and meditation.
Importantly, the clinical trial proved that the ancient Chinese technique could lower BP as effectively as brisk walking.
In people practicing baduanjin, BP reductions were seen after three months and were sustained for one year.
"Given its simplicity, safety, and ease with which one can maintain long-term adherence, baduanjin can be implemented as an effective, accessible, and scalable lifestyle intervention for individuals trying to reduce their blood pressure," said Jing Li, Director, National Center for Cardiovascular Diseases in Beijing, China.
Baduanjin is a standardized eight-movement sequence that integrates aerobic, isometric, flexibility, and mind-body components.
It has been in practice for centuries and commonly performed in community settings across China. The routine typically takes 10–15 minutes and requires no equipment and only minimal initial instruction.
Because it is low- to moderate-intensity, it is considered safe and accessible for many adults.
Also read: Cardiovascular Diseases Lead As India’s Top Killer: US Cardiologist Points Out Risk Factors
A team of Chinese researchers led the first large, multicenter randomized trial to look at the impact of baduanjin on blood pressure.
They followed 216 participants, aged 40 years or older, across seven communities to determine changes in 24-hour systolic BP from baseline to 12 and 52 weeks.
Compared to people indulging in self-directed exercise, practicing baduanjin five days a week reduced
Notably, the benefits were sustained even without ongoing monitoring, a key challenge for many lifestyle interventions that struggle to maintain long-term adherence outside structured programs.
"Baduanjin has been practiced in China for over 800 years, and this study demonstrates how ancient, accessible, low-cost
approaches can be validated through high-quality randomized research," said Harlan M. Krumholz, Editor-in-Chief of JACC and the Harold H. Hines, Jr Professor at the Yale School of Medicine.
"The blood pressure effect size is similar to that seen in landmark drug trials, but achieved without medication, cost, or side effects. This makes it highly scalable for community-based prevention, including in resource-limited settings," they added.
Also read: AHA Cholesterol Guidelines 2026: How Indians Can Improve Heart Health
How To Practice Baduanjin
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Back pain is a common problem seen among middle-aged men and women, especially those sitting for prolonged hours. The pain experienced is mainly due to poor posture, lack of physical activity, obesity, and stress.
However, for some, the pain occurs in the mid-back, indicating a far more serious problem. While it may appear like chronic back pain, it may actually signal the risk of spinal tuberculosis, which can creep in silently, according to doctors.
If left untreated, the dangerous infectious disease can lead to paralysis and spinal deformity.
“If your back pain persists for months, it is localized, or if it worsens with cough/breathing, don’t ignore it; seek expert evaluation,” said Dr. Sudhir Kumar, a neurologist from Apollo Hospitals Hyderabad, in a post on social media platform X.
Dr. Kumar also shared the case of a 55-year-old man suffering from back pain for four months.
The man’s blood tests, nerve conduction studies, and MRI (neck and lower back) appeared normal. Yet his pain did not go away. He found no relief with painkillers, muscle relaxants, and rest.
Notably, his pain increased while coughing and taking deep breaths.
“That is not a random symptom. Pain that increases with coughing is suggestive of spinal nerve root irritation or compression. This immediately shifts thinking from “muscle pain” to spine pathology,” said Dr. Kumar. The expert advised an MRI of the dorsal (thoracic) spine, which suggested spinal TB.
The “MRI dorsal spine showed involvement of D8–D9 vertebrae, disc edema and paravertebral collection. These findings were suggestive of Spinal Tuberculosis,” said the neurologist, popularly known as the Hyderabad doctor.
Unlike lung TB, where prolonged fever or coughs are a key risk factor, Dr. Kumar just had persistent back pain and no fever, weight loss, or any such “typical TB symptoms”.
“This is why Spinal Tuberculosis is dangerous. It can be silent and slow, and the diagnosis can be easily missed, until it causes paralysis and spinal deformity,” Dr. Kumar said.
Tuberculosis of the spine is also known as Pott’s disease, and is named after Sir Percival Pott, who described it in 1779.
Also called tuberculous spondylitis, it is a severe form of skeletal tuberculosis where the Mycobacterium tuberculosis bacteria infect the vertebrae — typically spreading from the lungs to the spine via the blood.
Unlike routine back pain, pain due to spinal TB is persistent, progressive, and does not respond to usual rest or medication.
Early identification is crucial to prevent complications such as spinal deformity or neurological damage, Dr. Manisha Mendiratta, Director & Head – Pulmonology, at Sarvodaya Hospital, Faridabad, told HealthandMe.
The common symptoms to watch out for include:
Early evaluation is key. If symptoms persist, a detailed clinical assessment should be done. Doctors may recommend:
Dr. Mendiratta urged the need for ensuring early diagnosis and complete treatment of any TB infection. Further, maintaining good immunity through balanced nutrition and rest, as well as avoiding ignoring persistent or unusual back pain, is crucial to preventing spinal TB.
The doctor also stressed the need for regular follow-ups in people with a history of TB exposure, and to never stop TB treatment midway.
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