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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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While doctors across the world recommend ensuring that fluoride and other protective minerals make up your toothpaste, your body produces its very own amino acid that protect your entire dental cavity.
Arginine, an amino acid that is already present in saliva, can turn bacteria from damaging to protective in your mouth, a study has found.
When sugars from food are broken down by the many bacteria living in the mouth, acids are produced that gradually damage tooth enamel and lead to cavities. This is known as dental caries. Over time, this acid dissolves tooth enamel and causes cavities.
However, researchers at Aarhus University in Denmark have discovered that regular arginine treatment can significantly reduced the overall acidity levels in the mouth and prevent tooth decay.
Yumi Del Rey, microbiologist at Aarhus, said: ""Our results revealed differences in acidity of the biofilms, with the ones treated with arginine being significantly more protected against acidification caused by sugar metabolism."
Volunteers were then asked to instructed to dip the dentures in a sugar solution for 5 minutes, immediately followed by distilled water (as placebo) or arginine for 30 minutes, one on each side. This was to be repeated three times a day, with arginine treatment done on the same side each time.
Sebastian Schlafer, professor at the Department of Dentistry and Oral Health, explained: "The aim was to investigate the impact of arginine treatment on the acidity, type of bacteria, and the carbohydrate matrix of biofilms from patients with active caries."
After 4 days of this process, the biofilms were developed and the dentures were removed for detailed analysis. The researchers compared dental plaques grown on customized dentures on both sides of each participant's mouth using a special pH-sensitive dye called C-SNARF-4.
Additionally, the team also began to look into how arginine might be reducing acidity, by taking stock of which bacteria and sugars were present in each sample.
Biofilms treated with arginine showed lower levels of a sugar called fucose, while another sugar, galactose, was concentrated towards the outer surface of the biofilm, meaning both sugars were away from the tooth enamel.
After analyzing the DNA of bacteria present, the researchers found that arginine treatment significantly reduced a specific population of Streptococcus bacteria known to produce acid, while slightly increasing other bacterial strains that can metabolize arginine.
The scientists noted that while more research is needed into the arginine's effectiveness, the amino acid could be a promising new addition to oral hygiene products such as toothpaste or mouthwash.
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For decades, a cancer diagnosis often came with fear and uncertainty. Today, that narrative is slowly changing. New national data shows that more people diagnosed with cancer in the United States are living longer than ever before, reflecting steady progress in prevention, early detection, and treatment.
For the first time, the five-year survival rate across all cancers has reached 70 percent. That means seven out of ten people diagnosed with cancer now live at least five years after diagnosis, a significant improvement from the mid-1970s, when survival hovered around 50 percent. This shift marks one of the most encouraging milestones in modern cancer care.
Several factors are driving this improvement. Reduced tobacco use has played a major role, particularly in lowering deaths from lung and other smoking-related cancers. At the same time, better screening tools are catching cancers earlier, when treatment is more likely to work. Advances in therapies, including targeted drugs, immunotherapy, and improved chemotherapy regimens, have also transformed outcomes for many patients.
What stands out is that survival gains are not limited to less aggressive cancers. Even cancers once considered highly fatal, such as lung cancer, liver cancer, and certain blood cancers, are seeing meaningful improvements. In some advanced-stage cancers where survival was previously measured in months, people are now living years longer than expected.
One of the most striking trends is improved survival among people with metastatic cancer, where the disease has spread to other parts of the body. While these cancers remain difficult to treat, progress is undeniable. Survival rates for metastatic lung cancer, for example, have increased severalfold since the 1990s. Similar gains have been seen in metastatic colorectal cancers.
These improvements suggest that cancer is increasingly being managed as a long-term condition rather than an immediate terminal illness for many patients. Continued research has played a critical role in making this possible.
The steady rise in survival has not happened by chance. It reflects decades of scientific investment, clinical trials, and innovation. However, experts warn that recent cuts to health research funding could slow future progress. Breakthroughs in cancer care rely heavily on sustained support for research, and disruptions to that pipeline could affect outcomes years down the line.
While the current numbers are encouraging, they also serve as a reminder that progress must be protected and expanded.
Despite overall gains, cancer outcomes are not improving equally for everyone. The report highlights ongoing racial and ethnic disparities in both cancer incidence and survival. Certain populations continue to experience higher death rates and lower survival, often due to limited access to early screening, timely diagnosis, and high-quality treatment.
Lung cancer is expected to remain the leading cause of cancer-related deaths in the coming years. While smoking remains the biggest risk factor, an increasing number of people who have never smoked are also being diagnosed, raising new questions about environmental and genetic risks. Some experts argue that screening guidelines need to evolve to reflect these changes.
As survival improves, the number of people living with a history of cancer is rapidly growing. There are already over 18 million cancer survivors in the US, and that number is expected to cross 22 million within the next decade. This brings new challenges.
Survivors often face long-term physical, emotional, and financial effects, and the healthcare system is still catching up when it comes to consistent survivorship care. Many primary care providers are not trained to monitor cancer recurrence or manage late treatment effects, leaving gaps in follow-up care.
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Covid is returning, as the National Health Service, NHS UK warned that there has been a "bounce back" in respiratory viruses this winter, along with COVID too on the rise. While UK was already struggling with flu and norovirus on the rise, cases of COVID have also risen. The latest data from the UK Health and Security Agency (UKHSA) show that the number of patients in hospital beds with COVID per day has risen from 0.87 per 100,000, as compared with 0.77 per 100,000 the previous week.
NHS national medical director Professor Meghana Pandit said: “It’s clear that the worst is far from over for the NHS this winter, with hospitals again experiencing a rise in patients admitted with flu and other respiratory virus cases last week.”
Since the pandemic, there have been many variants of COVID. The virus has continued to evolve. Two new variants that caused the spike in cases in autumn were XFG, known as Stratus, and NB.1.1, known as Nimbus.
Stratus: It is a subvariant of Omicron variant and made of previous variants LF.7 and LP.8.1.2. It was first detected in a sample on January 27, 2025. Whereas, Nimbus was first detected on January 22, 2025. It also originated from the same omicron variant, which was the reason for spike in 2023.
The World Health Organization (WHO) describes stratus as a "variant under monitoring" after several countries in South East Asia reported a rise in new cases and hospitalizations with this variant being detected.
Among studies that focused on how symptoms appear together, fatigue stood out as the most consistently reported issue. It often occurred alone or alongside problems such as muscle and joint pain, brain fog, or breathlessness. Other symptom pairings that appeared frequently included loss of smell and taste, anxiety with depression, and various forms of musculoskeletal pain.
When researchers classified patients based on affected organ systems, respiratory problems were the most widespread, seen in about 47% of long COVID patients. Neurological symptoms followed at 31%, while gastrointestinal issues were reported by 28%. The authors stressed that these percentages reflect how often these clusters appeared within long COVID cases studied, not how common they are in the general population.
A smaller number of studies sorted patients by how severe their symptoms were, dividing them into mild, moderate, or severe categories using symptom scores, symptom counts, or quality-of-life measures. Three studies used clinical indicators for classification, including abnormal triglyceride levels and signs of restricted lung function on imaging.
As per the Centers for Disease Control and Prevention (CDC), here are the common COVID symptoms:
CDC says, look out for these signs:
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