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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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Norovirus, often called the stomach bug, has returned. Between August 1 and December 11, health officials recorded 268 norovirus outbreaks, with numbers climbing steadily as winter travel increases and more people spend time indoors. The virus triggers stomach-related symptoms such as nausea, vomiting, diarrhea, and abdominal pain or cramping.
Some people also develop fever, headaches, and body aches. Although case numbers are not rising as sharply as flu, doctors remain concerned because norovirus spreads extremely easily. Making matters worse, norovirus is difficult to kill. Many of the common precautions used against flu and COVID offer little protection against this so-called winter vomiting bug.
Norovirus is among the most infectious viruses doctors deal with. “It can tear through a household and then circle back, with people repeatedly passing it to each other,” says Amy Edwards, MD, associate professor of pediatrics at Case Western Reserve University School of Medicine in Cleveland, Ohio, who specializes in infectious diseases. “It also spreads very quickly in crowded, closed settings like cruise ships.”
While contaminated surfaces can transmit norovirus, doctors say person-to-person spread is most common. An infected person can pass on the virus even before symptoms appear, throughout the illness, and after they start to feel better, Jennings warns.
For most people, norovirus symptoms ease within a few days, according to Jennings. However, the illness can be more serious for those with weaker immune systems, including young children, older adults, and people with certain health conditions.
If you think you have norovirus, focus on staying well hydrated. Ongoing vomiting can quickly lead to fluid loss and electrolyte imbalance. To prevent nausea from getting worse, Jennings recommends taking small sips of clear fluids like water, ginger ale, or coconut water.
Most importantly, seek medical care right away if you become dehydrated or if diarrhea lasts for weeks. Fischer explains that dehydration may cause sunken eyes, less frequent urination, dry skin and mouth, and extreme tiredness.
Norovirus symptoms often come on suddenly and may include:
Symptoms usually begin 12 to 48 hours after exposure and last for one to three days. Even after recovery, people can continue shedding the virus in their stool for weeks. In some cases, especially among those with other medical conditions, shedding can continue for months. Some people infected with norovirus never develop symptoms at all. Even so, they can still spread the virus to others.
Norovirus spreads very easily from one person to another. Because it is highly contagious, an infection can pass quickly through homes, schools, or other shared spaces. The virus is released through stool and vomit, and a person can spread it from the moment symptoms begin until several days after they feel better. Norovirus can also survive on surfaces and objects for days or even weeks.
You can catch norovirus by:
Norovirus is especially hard to get rid of because it can survive extreme hot and cold temperatures and is resistant to many common disinfectants.
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The NHS has issued fresh advice for people taking a widely prescribed medicine used to manage heart and circulation conditions. Across the UK, millions rely on beta-blockers to treat heart and blood vessel problems. Each year, more than 50 million prescriptions are written for these drugs, which help manage issues ranging from high blood pressure and abnormal heart rate to certain conditions affecting the brain and nervous system. Doctors most commonly prescribe bisoprolol, which NHS England lists as the seventh most prescribed medicine in the country.
Bisoprolol, sold under brand names such as Zebeta, Bisotab, and Concor, belongs to a group of medicines called beta-blockers. It is mainly used to treat various heart-related conditions by slowing the heart rate and relaxing blood vessels. This reduces strain on the heart and helps it pump blood more efficiently, according to the CDC. The NHS also explains that bisoprolol is used to prevent chest pain caused by angina and to manage atrial fibrillation and other irregular heart rhythms. By slowing the heart, it allows the heart muscle to work more effectively.
Data from 2024–25 shows that bisoprolol was dispensed around 32 million times in England alone. The NHS notes that for people with high blood pressure, taking bisoprolol can help lower the risk of future heart disease, heart attacks, and strokes.
Like most medicines, bisoprolol can cause side effects, and patients are advised to stay alert to them. People starting the medication are often told to take their first dose at night, as it can make some feel dizzy. There are several common side effects that affect more than one in 100 people. According to the NHS, these are usually mild and tend to settle over time. They include:
However, there are less common but more serious side effects that should not be ignored, as they may require urgent medical attention. The NHS advises contacting a doctor or calling 111 if:
The NHS also urges people to seek immediate help if certain symptoms appear. These include:
Emergency services should be contacted straight away if there are signs of a severe allergic reaction, known as anaphylaxis. The NHS says to call 999 immediately if:
The NHS stresses that while bisoprolol is effective and widely used, knowing when side effects are harmless and when they signal an emergency is key to staying safe.
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Rabies is a fatal viral disease that spreads to humans through the saliva of infected animals. It targets the central nervous system, and nearly 99 percent of human cases are linked to infected dogs. A recent *Lancet* study found that about 5,726 people still die from rabies each year, even though overall deaths have declined over time. This is why prompt medical care after a dog bite or scratch is critical. Most people believe the rabies vaccine taken after a bite is enough. What many do not realise is that a pre-exposure prophylaxis vaccine is also available and can be taken even before a bite occurs. So why does this vaccine matter, and how does it actually protect you?
A rabies pre-exposure prophylaxis, or PrEP, vaccine involves a set of shots given before any possible contact with the rabies virus. It is mainly recommended for people at higher risk, such as veterinarians, animal handlers, laboratory workers, and travellers visiting regions where rabies is common. While PrEP does not remove the need for treatment after a bite, it makes post-exposure care simpler. People who have received PrEP need fewer follow-up injections and do not require rabies immunoglobulin, which can be hard to access in emergencies and may save crucial time.
According to Dr Deepa Aggarwal, who shared insights on her Instagram account, the rabies pre-exposure prophylaxis vaccine prepares the immune system in advance. It helps the body develop antibodies before any exposure occurs. If a vaccinated person is bitten later, they need only two booster shots and no immunoglobulin. The immune response is quicker, lowering the risk of the virus spreading to the brain. This is especially important for people at high risk or in situations where medical treatment may be delayed.
The Advisory Committee on Immunization Practices, or ACIP, has updated its recommendations for rabies PrEP.
While the vaccine can benefit anyone, rabies pre-exposure prophylaxis is mainly advised for people with frequent or high risk of exposure. This includes veterinarians, animal handlers, wildlife workers, laboratory staff, and travellers to areas where rabies is widespread. The vaccine makes treatment after a bite easier by reducing the number of shots required. However, health authorities stress that while PrEP offers protection, it does not replace full post-exposure treatment after a confirmed bite, as advised by the CDC and WHO.
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