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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.
Credit: Cleveland Clinic
Blood pressure is routinely measured in the arms, but checking it in your ankles can also offer important clues about vascular health. An ankle-brachial index (ABI) test compares blood pressure readings in the arms and ankles to detect poor circulation and signs of peripheral artery disease (PAD).
Pain or cramping in the calves, thighs, hips or buttocks while walking, climbing stairs or exercising, which subsides with rest, could indicate PAD. The condition occurs when narrowed arteries restrict blood flow to the legs.
PAD can remain undetected for years, particularly in people without obvious symptoms. Early detection matters because the underlying atherosclerosis can also affect arteries supplying the heart and brain, increasing cardiovascular risks.
The ABI test is a simple, non-invasive procedure that measures blood pressure in the arms and ankles using inflatable cuffs and a Doppler ultrasound device. The readings are compared to calculate the ankle-brachial index.
Dr. Samir Kubba, Director and Unit Head, Cardiology, Dharamshila Narayana Superspeciality Hospital, Delhi, explained to HealthandMe that the test assesses blood circulation in the lower limbs and can also indicate an increased risk of cardiovascular disease.
Dr. Anshul Kumar Jain, Director – Cardiology, CK Birla Hospital, Delhi, told HealthandMe that an abnormal ABI reading should not be viewed in isolation but as a potential warning sign requiring further cardiovascular assessment.
"What makes the ABI test particularly important is that PAD may remain undiagnosed for years, as some individuals experience no obvious symptoms," Dr. Samir said.
Others may experience leg pain while walking, cramps, numbness, cold feet or wounds that take longer to heal.
Dr. Anshul highlighted the wider implications of detecting PAD. "From a neurological perspective, identifying PAD is particularly important because underlying atherosclerosis can affect blood vessels supplying the brain as well as the heart. Reduced circulation may indicate an increased risk of cardiovascular events, including stroke," he said.
The test may be useful for people at an increased risk of PAD, including:
ABI is not a direct test for heart disease. It is a vascular assessment tool that helps identify PAD and may indicate wider cardiovascular risks. Abnormal results require further evaluation by a specialist.
How to Prepare for an ABI Test and What Happens During It?
No special preparation is required. You will be asked to lie on your back and rest for five to 10 minutes before the test.
A healthcare professional will place inflatable cuffs around your arms and ankles and measure blood pressure using a handheld Doppler ultrasound device. The procedure takes only a few minutes, and you can resume normal activities afterwards.
The ABI is calculated by dividing the higher ankle systolic blood pressure reading by the higher arm reading. The resulting ratio indicates blood flow to the legs.
According to the Cleveland Clinic, ABI readings are interpreted as follows:
An ABI above 1.4 may indicate stiff or calcified arteries, often associated with ageing or diabetes. Such readings may require further testing.
People with diabetes or non-compressible arteries may also need a toe-brachial index (TBI) test, which measures blood pressure at the big toe.
Treatment depends on the severity of arterial narrowing, symptoms and overall cardiovascular risk. Options may include:
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Psoriasis is a long-term inflammatory skin disorder that impacts the immune system. It can cause itchy and unsightly areas of thick, flaky skin that can impact your confidence, relationships and everyday activities.
Symptoms can be erratic. Differ among individuals. Although a cure does not exist there are treatments that're effective. It is non-infectious.
There is overactivity in the system causing an overproduction of skin cells. This causes a build-up of scaly patches known as plaques. The common form of psoriasis is plaque psoriasis. This type of psoriasis often appears on the scalp. It also often appears on the elbows. It also often appears on the knees. It also often appears on the back. This can cause itching, pain, breaking and bleeding. Nails can become pitted, with holes and can become thickened and lifted off the nail bed. Other forms can cause spots, shiny patches in areas of skin fold and pustules.
Depending on your skin colour, you may see /red patches on lighter skin or dark patches with less pink tones on darker skin. Sometimes your skin colour can become temporarily different when the inflammation has subsided.
Whilst we do not fully understand the cause of psoriasis, it is caused by a combination of immune and environmental factors. If you have a family history, then you are more likely to develop psoriasis. Common triggers can vary between individuals, but infection, trauma, stress, smoking, excessive alcohol intake and certain medications can cause psoriasis or make symptoms worse.
Strep throat infections are commonly linked to guttate psoriasis (spot-like patches). Knowing your triggers can help; however, there may not always be a trigger.
Unfortunately, there is no way to prevent psoriasis; however, keeping skin clean, taking medication and knowing your triggers can help reduce symptoms.
Have a shower using a cleanser and warm water. Apply a fragrance-free moisturiser to damp skin. Try not to scratch or rub your plaques. Try to avoid causing trauma to your skin and sunburn.
Keeping active, maintaining a weight if needed, quitting smoking and reducing alcohol can all improve your general health. Some people find keeping stress to a minimum helps; however, this cannot replace treatment. If your symptoms get worse when starting medication, let your doctor know. Do not stop taking your medication.
This will depend on the type of psoriasis where it's how bad it is and how it is affecting your daily life. Your dermatologist will also take into consideration any medical conditions and if you have any joint symptoms.
Mild psoriasis can often be treated using various treatments. These can include steroids, vitamin D analogues and other medications. Steroids should be used at the correct strength and for the correct length of time depending on the area. Long-term steroids should be monitored.
Phototherapy uses specialist UV light, narrow-band UVB. This may be suggested if you have widespread psoriasis or topical treatments have not worked well enough. This should be monitored. Monitored. More severe or hard-to-treat psoriasis may need medication or biologicals. This can include Methotrexate, Ciclosporin, acitretin, or Apremilast. Biologicals work by targeting inflammatory pathways such as TNF, IL-17 and IL-23. This should be discussed individually with monitoring.
Talk to your doctor about any concerns you have regarding your treatment. This can include side effects, cost and difficulty sticking to a regimen. This will allow your doctor to put together a treatment plan.
Some people with psoriasis can develop arthritis. If you have any pain, swelling, stiffness when waking up or heel pain, this should be assessed quickly. If left untreated, the inflammation can cause damage to your joints.
Psoriasis can put you at increased risk of developing disease, diabetes and other metabolic issues. This does not mean everyone with psoriasis will develop these conditions, but your doctor can advise what checks you need to do and how to keep your health in check. If your psoriasis is affecting your sleep, confidence, relationships or mood, let your doctor know. Counselling and other mental health support can be an addition to your treatment.
If you have scaling changes to your nails or symptoms that are affecting your daily life, you should see a dermatologist. This will usually be diagnosed by looking at your skin and nails. Occasionally a skin biopsy may be needed.
If you have inflammation, scaling, pustules and are unwell or have a fever, you should seek urgent medical attention. This can indicate psoriasis and needs treating quickly. Whilst psoriasis can be unpredictable, there are treatments available. You deserve a treatment plan to help your symptoms.
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The menstrual cycle is more than a monthly reproductive event. It is a complex physiological process involving fluctuations in hormones such as oestrogen and progesterone, which can influence appetite, energy balance, mood and digestion, raising the question: does a woman need to eat differently during different phases of her menstrual cycle?
Current research suggests that nutritional needs do not dramatically change from one week of the cycle to another for most healthy women. However, appetite, food intake and certain symptoms can change across the cycle. Understanding these changes can help women make practical dietary choices without turning nutrition into a complicated four-phase diet.
The menstrual cycle can broadly be divided into the menstrual, follicular, ovulatory and luteal phases.
During menstruation, oestrogen and progesterone levels are relatively low, and the uterine lining is shed. The follicular phase begins with menstruation and continues until ovulation. Oestrogen generally rises during this period and reaches a peak around ovulation.
After ovulation, the body enters the luteal phase. Progesterone rises, along with another increase in oestrogen, before both hormones decline if pregnancy does not occur. These hormonal changes can influence appetite and food preferences.
Research has found that energy intake tends to be somewhat higher during the luteal phase than during the follicular phase.
Some studies suggest that resting metabolic rate may increase slightly during the luteal phase, although the estimated change is relatively small and varies between individuals and studies.
This is important because it means that feeling hungrier before a period is not necessarily a failure of willpower. It may partly reflect normal biological changes.
The goal should not be to follow a completely different diet every week. Instead, nutrition should provide the body with adequate energy, protein, fibre, vitamins, minerals and fluids throughout the entire cycle.
For women who experience premenstrual syndrome (PMS), dietary habits may be particularly relevant. PMS can include bloating, breast tenderness, headaches, fatigue, appetite changes, food cravings and mood changes.
Calcium is one nutrient that has attracted considerable attention. The American College of Obstetricians and Gynecologists recommends including calcium-rich foods such as yoghurt and leafy green vegetables as part of dietary strategies for PMS.
Iron is another important consideration, particularly for women with heavy menstrual bleeding. The recommended dietary allowance for iron is 18 mg per day for women aged 19–50 years. Good sources include lentils, beans, spinach, meat, poultry, seafood, fortified cereals and nuts. Vitamin C-rich foods can improve absorption of plant-based non-haem iron.
1. During menstruation: focus on iron, protein and hydration
If menstrual bleeding is moderate to heavy, prioritising iron-containing foods is sensible.
Include:
· Lentils, rajma, chickpeas and soy
· Green leafy vegetables
· Eggs, poultry or lean meat
· Sesame and pumpkin seeds
· Iron-fortified cereals
· Vitamin C-rich fruits such as oranges, guava, amla and kiwi
Pairing plant-based iron sources with vitamin C can improve iron absorption.
Adequate fluid intake can help maintain hydration, particularly if you experience symptoms such as bloating or headaches.
2. During the follicular phase: maintain a balanced eating pattern
There is no need for a special “follicular-phase diet”. This can be a good time to establish consistent meals containing whole grains, vegetables, fruits, pulses, dairy or alternatives, nuts and seeds.
Protein should be distributed throughout the day rather than concentrated in one meal.
For example, breakfast could include eggs or paneer with whole-grain toast; lunch could contain dal, vegetables and roti; and dinner could include tofu, paneer, fish or another protein source.
3. Around ovulation: focus on overall dietary quality
Focus on a diet rich in colourful vegetables and fruits, whole grains, legumes, nuts, seeds and adequate protein. These foods provide fibre and a broad range of micronutrients and plant compounds.
4. During the luteal phase: plan for appetite and cravings
This is perhaps where nutrition can be adapted most practically.
Since appetite may increase during the luteal phase, trying to rigidly maintain the same food intake every day may backfire for some women. A better approach is to choose satisfying foods.
Combine protein + fibre + healthy fats in meals and snacks. For example:
ACOG also recommends complex carbohydrate-rich foods and reducing excessive intake of salt, sugar and high-fat foods when managing PMS symptoms.
Keep a symptom and food diary. Tracking your cycle for two or three months can help identify personal patterns in appetite, cravings, bloating, bowel habits, headaches and mood.
Do not compensate for increased appetite through extreme dietary restriction. A modest increase in hunger during the luteal phase can be a normal physiological response.
Build meals around protein and fibre. These can improve satiety and help make meals more filling.
Stay consistent with calcium-rich foods. Milk, yoghurt, paneer, ragi, sesame and calcium-fortified alternatives can contribute to calcium intake.
Be cautious with supplements. More is not necessarily better. Evidence for nutrients such as magnesium and vitamin B6 in PMS is mixed, and supplementation should be individualised. High-dose vitamin B6 taken for prolonged periods can cause neurological problems.
Myth: Every woman needs a different diet for each menstrual phase.
Fact: There is currently no strong evidence that healthy women require four completely different diets. A nutrient-dense dietary pattern should remain the foundation throughout the cycle.
Myth: Eating certain seeds during each phase can balance hormones.
Fact: Seeds such as flax, sesame, pumpkin and sunflower seeds are nutritious foods, but there is insufficient clinical evidence that consuming particular seeds at specific cycle phases “balances” reproductive hormones.
Myth: Weight gain before a period always means fat gain.
Fact: Changes in body weight around menstruation can reflect fluid retention, gastrointestinal changes and altered food intake. These changes should not automatically be interpreted as an increase in body fat.
Myth: Increased premenstrual hunger means a lack of self-control.
Fact: Research indicates that energy intake can increase during the luteal phase. Individual responses vary, but increased appetite can have a physiological component.
Myth: Supplements are necessary to manage PMS.
Fact: Some nutrients, particularly calcium, have evidence supporting a role in symptom management, but dietary supplements are not automatically necessary for everyone. ACOG recommends discussing PMS products and supplements with a healthcare professional because some products have limited evidence or may interact with medications.
So, does the body need different foods at different times of the menstrual cycle? Not in the way social media often suggests.
The evidence does indicate that hormonal fluctuations can influence appetite, energy intake and possibly energy expenditure. For some women, these changes are noticeable, particularly during the luteal phase. Nutritional priorities such as iron, calcium, protein, fibre, hydration and overall dietary quality remain important throughout the month.
The most useful approach is therefore not strict “cycle syncing”, but cycle-aware nutrition: understand your own symptoms, respond to changes in hunger, maintain adequate nutrient intake and avoid unnecessary dietary restrictions.
Nutrition should work with the menstrual cycle, not become another source of stress.
(By Neha Kanodia, Senior Executive Nutritionist, Cloudnine Hospital,Faridabad)
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