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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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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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Ever since the Trump administration has come to power, sentiments against vaccines have gone up. Many vaccine critiques have been handpicked by the anti-vaxxer HHS Secretary RFK Jr. as health officials. So it is no surprise that now the Centers for Disease Control and Prevention's Advisory Committee on Immunization Practices (ACIP) is now recommending that mothers who test negative for hepatitis B should discuss the need for the vaccine with their doctors. If parents choose to delay the birth dose, the first shot should be given at no earlier than two months of age. This is dropping the longstanding hepatitis B vaccine guideline that stated that every newborn receive the first dose of the hepatitis B vaccine shortly after birth. This recommendation, in place since 1991, was reversed on December 5 after a key CDC advisory committee voted to change the policy.
This committee was appointed by Health and Human Services Secretary Robert F. Kennedy Jr., who dismissed all 17 previous members earlier this year. The shift in policy has triggered wide debate, especially in the medical community, because it overturns one of the longest standing infant vaccination guidelines in the United States.
Below are some of the claims made by the panel, both sides, who debated the vaccine's need or unimportance for all infants.
Claim: Several ACIP members questioned whether babies considered “low risk” truly need a hepatitis B shot at birth. But hepatitis B is not always easy to detect or trace.
The virus spreads through bodily fluids such as blood, semen and vaginal fluids. It is also extremely resilient and can survive on surfaces for up to a week. Even tiny amounts of dried blood from everyday items like razors, toothbrushes or nail clippers can carry the virus.
Hepatitis B often has no symptoms for years. The CDC estimates that 640,000 adults in the United States live with chronic hepatitis B, and half do not know they are infected. This means that even if a mother tests negative during pregnancy, her newborn can still be exposed through family members or other caretakers. Before universal birth-dose vaccination began, only half of infected children under age ten had contracted the virus from their mothers at birth.
Because so many people are unaware of their infections, determining true risk is complicated.
Claim: Some committee members suggested that vaccinating all newborns mainly protects adults or others at higher risk.
That claim is misleading. The primary purpose of giving the shot at birth is to protect infants, who face the most severe long-term consequences of infection.
Hepatitis B attacks the liver. If an infant becomes infected, there is a very high chance the disease will progress into a chronic lifelong condition. About a quarter of those children eventually die prematurely from liver failure or liver cancer. While treatments exist to reduce complications, there is no cure.
Dr. James Campbell, a pediatric infectious disease specialist at the University of Maryland, reminded the committee that the vaccine strategy transformed public health outcomes. “We used to have 18,000 or 20,000 kids born with this every year, and a quarter of them would go on to develop liver cancer. We now have almost none,” he said.
Claim: Hepatitis B infections fell sharply after the birth-dose recommendation took effect. Before vaccination became routine, up to 300,000 Americans were infected annually. About 20,000 of those were children.
Today, total annual cases have dropped to around 14,000. Among people under 19, chronic infections have reached extremely low levels. In 2022, the CDC documented only 252 new cases in this age group.
ACIP member Dr. H. Cody Meissner, who voted against changing the policy, argued that declining numbers do not justify easing precautions. “It is a mistake to say that because we are not seeing much disease, we can change the schedule,” he said. “If we do, hepatitis B infections will come back.”
Claim: Some committee members compared U.S. policy to countries such as Denmark, which does not vaccinate all newborns.
However, the United States is far from alone in recommending a universal birth-dose. According to CDC data from September 2025, 116 out of 194 World Health Organization member countries recommend hepatitis B vaccination at birth.
Denmark does not include hepatitis B in its standard childhood schedule, but it has a centralized national health system, higher prenatal screening rates and less fragmented medical records. The United States lacks these structural advantages, which makes relying solely on maternal testing more challenging.
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A senior British cardiologist has shared a clear two-word tip that he says can make a real difference to your blood pressure. Dr Amir Khan recently explained this advice while outlining five simple habits that can naturally bring hypertension under control, particularly during the winter months when heart risks tend to rise.
India continues to struggle with a heavy hypertension burden. Roughly one in three adults is estimated to have high blood pressure, yet many remain unaware of their condition, and even fewer manage it well. Doctors often warn that this lack of awareness, combined with poor control and gaps in long-term care, leads to serious complications such as heart attacks, strokes, and kidney disease. Since hypertension usually comes without symptoms, it has long been known as a silent killer.
Dr Khan highlights that a few lifestyle tweaks can go a long way, and his biggest message is built around a simple two-word mantra: “get moving”. He explained on Instagram that regular physical activity keeps blood vessels flexible and supports healthy blood flow. His advice is to pick any form of movement you genuinely enjoy and make it part of your routine.
Exercise reduces blood pressure by strengthening the heart, improving circulation, and reducing the strain on arteries. A stronger heart pumps blood more efficiently, which lowers the force exerted on blood vessel walls. Physical activity also opens up small blood vessels, helps manage weight, and reduces inflammation and stress hormones. All of these support healthier vascular function and better overall pressure control.
Doctors recommend a mix of aerobic activity, such as brisk walking, swimming, or cycling, along with strength training to support long-term heart and metabolic health.
While movement is his main message, Dr Khan also lists four additional habits that support healthier blood pressure levels.
He explains that those with high blood pressure need to be especially mindful of hidden salt. Adults should ideally stay around six grams a day, which is about a teaspoon. Much of this is already present in packaged or restaurant foods. Using herbs, spices, and fresh ingredients can help bring the total down.
Dr Khan encourages increasing potassium intake because it helps the kidneys flush out excess sodium. Foods rich in potassium include bananas, tomatoes, spinach, carrots, and kiwi. Adding these regularly can make a noticeable difference.
He stresses that avoiding cigarettes and limiting alcohol is key for heart health. Smoking damages blood vessels and raises blood pressure, while alcohol can worsen both pressure and weight control.
Keeping weight in a healthy range reduces strain on the heart and helps blood vessels function more efficiently. It also improves circulation and reduces the substances that cause vessels to tighten.
Dr Khan’s message is simple. Small and consistent lifestyle choices can noticeably lower blood pressure, and starting early makes a significant difference.
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