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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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A recent paper in The Journal of Nutrition reports that there is promising, although still developing, scientific evidence linking regular yogurt intake with a lower chance of developing type 2 diabetes (T2D). These findings supported the Food and Drug Administration’s 2024 decision to permit a qualified health claim for yogurt.
The agency stated that steady yogurt consumption appears to be tied to reduced T2D risk and that the new claim can help guide public messaging to encourage people to eat more yogurt, which also raises intake of nutrients many people lack, such as calcium. To understand this connection more clearly, we spoke with Prof. (Dr.) Supriya Awasthi, Dean and Professor at the School of Allied Health Sciences, Noida International University.
Type 2 diabetes is a long-term condition in which the body does not make enough insulin or does not respond to it properly. This leads to high blood sugar levels that gradually damage nerves, blood vessels, and several organs. It is the most widespread form of diabetes. According to the Mayo Clinic, it can often be delayed or prevented by staying active and maintaining a healthy weight.
Yogurt, a simple and widely consumed dairy food, has attracted attention for its possible protective effect. Fermented foods like yogurt contain helpful bacteria known as probiotics. These bacteria support gut health. Research on the gut is still progressing, but scientists now believe the balance of gut bacteria may affect many health concerns, including obesity and diabetes.
Since type 2 diabetes is one of the most common lifestyle-related disorders worldwide, experts continue to study how daily food choices shape its risk. But can a weekly serving of yogurt truly matter? Dr Supriya said that it can, especially when yogurt is part of an overall balanced eating pattern.
Yogurt offers probiotics that help keep the gut microbiome in good condition. A healthy gut environment supports better metabolism, lowers inflammation, and improves how the body handles glucose. Ongoing inflammation and poor gut balance are well-known contributors to insulin resistance, which is the driving factor behind type 2 diabetes. According to Dr Supriya, regular yogurt intake may ease these problems and help the body manage blood sugar more effectively.
She also explained that yogurt’s protein content and naturally low glycemic index offer added advantages. She said, “Protein keeps you satisfied longer and helps curb sudden cravings. Foods with a low glycemic index do not raise blood sugar quickly. This can help prevent spikes in insulin and reduce the chances of developing insulin resistance over time.”
Several studies show that people who include plain or low-fat yogurt in their weekly meals tend to manage their weight better, which is an important part of lowering diabetes risk.
Yogurt is not harmful for people with diabetes, but choosing the right kind is essential. Many flavored or sweetened yogurts contain large amounts of added sugar, which can raise the risk of diabetes complications. The best choices are plain, unsweetened, low-fat, or Greek yogurt. These provide strong nutritional value without unnecessary sugar. Adding fruits, nuts, or seeds can improve taste in a healthy way.
Dr Supriya said, “While yogurt can support better metabolic health, it should not be viewed as a cure on its own. Its benefits are strongest when combined with a healthy routine that includes regular physical activity, weight control, fiber-rich meals, and limited sweets.” Even so, having yogurt two to four times a week may help maintain steadier blood sugar and lower long-term risk for type 2 diabetes.
Eating yogurt each week can be a simple and useful step in a diabetes-prevention plan. Its probiotics, protein, and gentle effect on blood sugar make it a valuable food for metabolic wellbeing. By choosing plain, low-sugar varieties and pairing them with healthy lifestyle habits, people can take a small but meaningful step toward lowering their chances of developing type 2 diabetes.
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A low-dose of a cheap drug widely used to treat gout could reduce the risk of heart attack and stroke in people already living with heart disease, finds a to a new analysis. The findings are based on a major Cochrane review, which suggests that colchicine, a long-established medication for treating inflammation and pain could have a powerful role beyond its traditional use.
Colchicine is one of the first-line treatments for gout on the NHS, commonly prescribed to ease the sudden and severe joint pain associated with the condition. But researchers have long suspected that its anti-inflammatory properties may benefit people with cardiovascular disease as well. The new Cochrane review strengthens that theory.
The review analyzed 12 clinical trials involving 22,983 participants with a history of heart disease, previous heart attacks, or stroke. Out of these, 11,524 individuals were assigned a low daily dose of colchicine, typically 0.5 mg taken once or twice a day, and were monitored for cardiovascular outcomes over several months.
According to the findings, people with existing cardiovascular disease who took colchicine for at least six months were less likely to experience major cardiovascular events such as heart attacks or strokes. Researchers noted that inflammation plays a key role in plaque buildup and instability in the arteries, and colchicine’s ability to dampen inflammation may help reduce these risks.
The review’s authors highlighted that the protective effect was clear and consistent across the trials. For every 1,000 people treated with low-dose colchicine, there were nine fewer heart attacks and eight fewer strokes compared with those who did not take the medication. While these numbers may appear modest, experts point out that at a population level, such reductions can translate into thousands of prevented events.
“Reductions like this can make a real difference for patients who live with ongoing, lifelong cardiovascular risk,” said Dr Ramin Ebrahimi, co-lead author from University Medicine Greifswald in Germany. The findings suggest that colchicine could become an accessible addition to current heart-disease prevention strategies, especially given its low cost and widespread availability.
Despite its potential benefits, colchicine is not risk-free. Participants taking the drug reported a higher incidence of gastrointestinal side effects, such as stomach discomfort or mild digestive issues. These reactions, however, were generally not severe enough to require discontinuing the medication.
Dr Lars Hemkens, senior author from the University of Bern in Switzerland, emphasized the importance of the findings, noting: “These results come from publicly funded trials repurposing a very old, low-cost drug for an entirely new use. It shows the power of academic research to reveal treatment opportunities that traditional drug development often overlooks,” as reported by Independent.
According to the NHS, colchicine works by reducing inflammation triggered by the buildup of uric acid crystals in the joints, a hallmark of gout. Its anti-inflammatory action helps ease pain flare-ups. The medication is typically supplied in 500-microgram tablets, although the exact dosage varies depending on the individual's condition and treatment plan.
With growing evidence pointing toward its cardiovascular benefits, researchers say colchicine may soon be considered not just a gout medication, but a valuable tool in heart-disease prevention.
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World Diabetes Day is observed on November 14 each year to raise awareness about diabetes, its prevention, and its management. The day aims to support individuals living with diabetes and encourage collective actions to reduce the overall burden of the disease. According to the World Health Organisation, the number of people living with diabetes increased from 200 million in 1990 to 830 million in 2022.
India is often referred to as the diabetes capital of the world due to its high number of people diagnosed with the condition. One interesting aspect about blood sugars, especially in women, is that they continue to shift through the month because of hormonal activity.
To understand this pattern better, we spoke with Dr Monika Sharma, Senior Consultant, Endocrinology, Aakash Healthcare who explained the link.
As per the Ministry of Health and Family Welfare, hormones do play a strong role in shaping blood sugar levels. Some, such as insulin and glucagon, work directly on glucose regulation, while others, including stress hormones, estrogen, progesterone and aldosterone, influence how the body responds to insulin and how steady blood sugar remains. Hormonal swings at different stages of life such as menstruation or menopause can push blood sugar higher or lower.
Estrogen and progesterone rise and fall throughout a woman’s monthly cycle and these shifts can change how the body reacts to insulin. When estrogen is higher and progesterone is lower in the follicular phase, the body tends to handle glucose better and stays more insulin sensitive.
Dr Monika said, “The opposite applies in the luteal phase, where progesterone levels go up and this may cause insulin partialization and even mild blood sugar increases, sugar cravings or fatigue prior to menstruation.”
Menopause alters the body’s natural glucose regulation because estrogen levels drop. With less estrogen the body becomes less sensitive to insulin and fat may gather around the abdomen which makes it harder to keep blood sugar within a normal range.
“Consequently, women in or after menopause are more vulnerable to the development of insulin resistance as well as type 2 diabetes despite the fact that their blood sugar levels had been maintained to normal levels previously,” as per Dr Monika.
There are several small but meaningful signs to watch for. These may include sudden weight gain around the stomach area constant desire for sweets ongoing tiredness changes in mood poor sleep or irregular periods. Hormonal shifts can cause unpredictable sugar levels in women with diabetes or prediabetes. It is important to keep track of these changes and reach out to a doctor early because adjustments in lifestyle or medicines can help prevent worsening of glucose control.
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