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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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Crossing 40 often brings subtle but noticeable changes in how your body feels and functions. Many people brush off early signs like morning stiffness, reduced flexibility, or frequent bathroom visits, not realizing these are part of natural age-related changes. These shifts primarily affect the bones, joints, and urinary system, areas that quietly define everyday comfort.
According to Dr. Aashish Chaudhry, Managing Director & Head, Orthopedics & Joint Replacement, Aakash Healthcare, these changes are expected but shouldn’t be ignored. “After 40, the body’s regenerative capacity slows down, particularly in bones and joints. Being aware of these changes helps in early prevention and better long-term outcomes,” he says.
Bone density gradually declines with age due to hormonal changes. Women experience a drop in estrogen, and men see reduced testosterone levels—both crucial for supporting bone formation.
“Lower hormone levels weaken the natural bone-building cycle,” explains Dr. Chaudhry. “This increases the risk of fractures and even slows down healing when injuries occur.”
To counter this, weight-bearing exercises and strength training are crucial. A diet rich in calcium, vitamin D, and protein supports bone metabolism and maintains strength.
Years of repetitive movements, combined with declining collagen production, make joints more vulnerable. Cartilage becomes less elastic, leading to stiffness, reduced mobility, and the early onset of osteoarthritis.
“Many people notice joint pain but assume it's just fatigue,” says Dr. Chaudhry. “In reality, early joint wear can be detected and managed much earlier with the right interventions.”
Flexibility-focused exercises like yoga or stretching, along with anti-inflammatory foods such as leafy greens, berries, nuts, and omega-3 sources, can ease stiffness and protect long-term mobility.
While both men and women experience changes in urinary patterns, men often notice symptoms more prominently due to prostate enlargement. A bigger prostate narrows the urinary passage, causing:
Women, on the other hand, may struggle with pelvic floor weakness, leading to leakage or urgency.
Dr. Chaudhry notes, “These symptoms are common after 40, but they shouldn’t be normalized. Early evaluation can prevent chronic discomfort.”
Hydration remains essential. Cutting back on caffeine, alcohol, and salty foods can also lighten urinary symptoms and prevent kidney irritation.
Shifting from reactive to preventive care is key after 40. The goal isn’t to stop ageing—it's to age comfortably and confidently.
“Think of this stage as preparing your body for the next decades,” says Dr. Chaudhry. “With the right lifestyle adjustments, most people can maintain excellent mobility and function well into older age.”
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After the Thanksgiving, on Friday, the Food and Drug Administration (FDA)'s top vaccine regulator, Vinay Prasad made a clam that shocked the public-health established. "For the first time, the US FDA will acknowledge that COVID-19 vaccines have killed American children," he wrote in a leaked email to his staff, as reported by The Atlantic and The Washington Post.

The agency has identified that at least 10 children died after getting COVID shots.
The email has been perceived by physicians as a "threat". A response from 12 former FDA commissioners, published in The New England Journal of Medicine on Wednesday, called Prasad's memo "a threat to evidence-based vaccine policy and public health security". All of the potential vaccine related deaths reported to government were already reviewed by the agency's staff, and had reached "different conclusions", wrote the former commissioners.
Elsewhere, doctors and scientists have declared that there are no evidence that links COVID-19 vaccines to deaths in children. The commissioners have claimed that in an attempt to deliberately bring evidence, Prasad and his colleagues had engaged in an "evidence-manufacturing mission", a "dumpster dive" for shoddy data, or worse, a campaign of lying.
Prasad is one of several public health officials who, under Robert F. Kennedy Jr.’s leadership, have been steadily chipping away at public trust in vaccines. So far, he has not provided evidence to back his claims, and his estimate of vaccine-related deaths may be exaggerated. The memo’s intense language and focus on political complaints also cast doubt on his assertions.
However, something that cannot be ignored is that fact that his memo may have provoked people to deny even the possibility of COVID-vaccine-related deaths. The Atlantic notes that "the idea that mRNA-based shots have, tragically, killed a very small number of children is not far-fetched." The article written by Benjamin Mazer, a physician who specializes in pathology and laboratory, notes that the this does not imply a "catastrophic threat to public health" as tens of millions of doses of the same vaccines have saved young people.
Public-health experts agree that COVID vaccines, like all medical treatments, can cause side effects. Myocarditis, a rare heart inflammation seen mostly in adolescent boys and young men after mRNA shots, remains the most discussed risk. Although usually mild and far less severe than virus-induced myocarditis, a few deaths have been documented worldwide, including isolated cases in the U.S., South Korea, and two American teenagers described in a peer-reviewed report.
These findings fuel ongoing debate about whether extremely rare vaccine-related deaths are being overlooked. Some scientists, including Paul Offit and Michael Osterholm, say the evidence does not prove the vaccines caused these deaths, noting that population-level studies show no rise in mortality after vaccination. Others argue that well-investigated autopsy-confirmed cases should be taken seriously rather than dismissed outright.
Experts such as Krutika Kuppalli, as cited by Mazer, emphasize that even if deaths occur, they are so uncommon they do not appear statistically, while the benefits, significantly reduced COVID mortality, are unmistakable. However, individual cases still raise questions on health authorities and the stricter standards of proofs they have applied when vaccines were involved to create a room for skepticism.
The concern is that rare side effects of vaccines could go undiscovered and not that vaccinations are inherently harmful.
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Are you down with fever? Are your symptoms also a little less common from an ordinary cold? Are you also confused between flu and COVID? Then knowing this one symptom could help you set flu apart from COVID. Dr Rupa Parmar, a GP and medical director at Midland Health tells The Mirror, that shortness of breath could be a key symptom that could differentiate between the two.
Dr Parmar highlights that it is a key indicator for COVID. "Shortness of breath is rare in both a cold and the flu, but as COVID more so affects the lungs due to inflammation, it is a common symptom."
The NHS website supports her advice, noting that breathlessness is a symptom more often tied to Covid, not the flu or a common cold. This kind of breathing difficulty is usually associated with infections like Covid or respiratory syncytial virus (RSV).
The nature of your cough could also help you understand different ailments. Dr Parmar said that a cold would produce a mild cough, whereas a flu cough could be more dry. However, with covid, "a cough will be dry and continuous, and many people will cough for more than an hour or have three or more coughing episodes within a day."
If one has lost their sense of smell or taste, then the chances are, this could be COVID. However, this symptom is also present in cold or in a flu.
For people who have Covid, the NHS advises staying home and avoiding contact with others if they or their children have symptoms and either develop a high temperature or feel too unwell to work, attend school, manage childcare, or carry out daily activities. If you are unsure about the cause, it is important to speak with a doctor.
Dr Parmar emphasized: "after all, it is always better to be safe than sorry when it comes to health."
The flu is a common respiratory illness that happen from the influenza virus. The common flu symptoms are:
As per the US Centers for Disease Control and Prevention (CDC), COVID-19 is a respiratory illness caused by the coronavirus. The common symptoms include:
COVID-19 could also have some long-lasting symptoms unlike flu or cold, that could seem unrelated to the original infection.
As per the Ohio State University, the most recent COVID variant is XFG or the Stratus variant. Another new variant that causes the 'razor blade' like sore throat is Nimbus.
NB.1.8.1 or the Nimbus variant is a subvariant of Omicron, which is a dominant COVID variant since late 2021. Omicron variants tend to cause more throat problems than the other variants seen earlier.
The COVID virus binds to ACE2 receptors. According to WebMD, the cells in your nose and throat contain more ACE2 receptors than those deeper in the lungs, which makes them easier targets for Omicron variants. Once the virus attaches to these receptors in the upper airway, your immune system begins to respond.
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