How can people living with PNH improve their lives?

Introduction to PNH.

PNH stands for Paroxysmal Nocturnal Hemoglobinuria. It is a rare blood disease that impacts the bone marrow and blood cells. PNH is a complex illness, but we'll explain its causes, symptoms, testing, and diagnosis in simple terms.

Red blood cells in PNH patients

What does PNH mean?

Red blood cells in PNH patients are more easily broken and less stable. In PNH, the bone marrow fails to produce red blood cells that contain a protein that protects them from the immune system. When the body doesn't have this protein, its defense system attacks these red blood cells and breaks them apart. This procedure is known as hemolysis.
PNH patients experience issues with their bone marrow, leading to the destruction of their red blood cells. There is a link between it and aplastic anaemia, a rare disease in which bone marrow loss makes it difficult for the body to produce enough new blood cells.

What effects does PNH have on the body?

Too many red blood cells are lost too quickly, resulting in a shortage of these cells in the body. Many of the signs of PNH are caused by this lack of new blood cells. One of the most obvious signs is hemoglobinuria, which means that the urine looks dark or red because of haemoglobin from the dead red blood cells, especially in the morning. Hemoglobinuria is a very scary sign that can help doctors figure out if someone has paroxysmal nocturnal hemoglobinuria.
Due to PNH anemia, other signs include feeling worn out, short of breath, and pale. Some people may also experience stomach pain, difficulty eating, and blood clots, all of which can lead to more serious health issues.

Problems with the bone marrow and PNH

Aplastic anemia is a bone marrow disease that cannot produce enough new blood cells. PNH is closely linked to this disorder. Individuals with PNH may have previously experienced aplastic anemia, or they may develop it in the future. Because of this link, understanding and diagnosing PNH is important for better management and treatment of these related diseases.

Why does PNH happen?

A change in a gene called PIGA leads to paroxysmal nocturnal hemoglobinuria. This gene is necessary to make the protective protein that stops hemolysis. This abnormality is not passed down from parent to child; it happens on its own in some people. This mutation renders the affected blood cells easy targets for the body's immune system. This gene mutation is what causes the signs and complications of PNH blood disease.

How to Diagnose and Treat PNH

People with PNH are often given blood tests to look for signs of hemolysis and other problems with their blood cells.
There is a test called flow cytometry that can find the missing protective proteins on the surface of blood cells. Click here to find out more about how to test for PNH.
Managing symptoms and avoiding problems are the main goals of treatment for PNH blood disease.
This can include medicines that stop bleeding, blood transfusions for people with serious PNH anemia, and even bone marrow transplants in some cases.
You should always talk to your doctor about your treatment choices.

How PNH Can Cause Thrombosis

When blood thickens and sticks together, it is referred to as a clot. It's a normal process that helps stop bleeding, but it can be dangerous when clots form in the veins or arteries. This type of condition is called thrombosis. Several things can cause this unwanted bleeding to happen in PNH.

Red Blood Cells Being Killed

Red blood cells are always being killed in PNH. When these cells split, they release chemicals into the bloodstream that cause it to clot. One of these is hemoglobin, which can hurt the walls of blood vessels and make them sticky, which makes clots more likely.

Activation of Platelets

Platelets are small cellular fragments that aid in blood clotting. IIn PNH, platelets can become overly active and easily adhere to one another. Since PNH is associated with bone marrow issues, clots are more likely to form.

Add to System Activation

Complement is a component of the immune system that helps eliminate germs and damaged cells. When someone suffers from PNH, their immune system attacks red blood cells, which causes swelling in the body. This swelling can also lead to blood clots.

Getting rid of nitric oxide

NIO is a molecule that helps keep blood vessels open and stops blood clots from forming. Red blood cells die in PNH and release haemoglobin. Haemoglobin binds to nitric oxide and makes it less available. This condition makes blood vessels thin and raises the risk of clotting.

Also, read https://www.icliniq.com/articles/blood-health/paroxysmal-nocturnal-hemoglobinuria.

Why does paroxysmal nocturnal hemoglobinuria happen at night?

The "nocturnal" aspect of paroxysmal nocturnal hemoglobinuria (PNH) refers to the increased presence of hemoglobin in the urine that occurs while a person sleeps, making this condition most noticeable in the morning. This happens because hemoglobin is released when red blood cells are killed in PNH. Because people do not urinate at night, their urine becomes more concentrated by morning when they first use the restroom. This makes the dark colour from the hemoglobin build-up easier to see. TThe destruction of red blood cells that causes this sign to appear most prominently at night also occurs during the day.

The amount of hemoglobin increases because red blood cells are destroyed while people with PNH sleep, causing hemoglobin to accumulate in the bladder. When a person doesn't go to the bathroom for a long time, the urine containing this hemoglobin becomes more concentrated.

Changes that can be seen include a level of hemoglobin that causes the urine to appear red, brown, or dark, indicating hemoglobinuria, which is most noticeable upon waking.

Hemolysis, the breakdown of red blood cells, is not limited to occurring at night, despite the term "nocturnal" in its name referring to when the symptoms can be observed. The term "nocturnal" in the name indicates when the sign is visible, rather than when the underlying process occurs.

Thrombosis in PNH: Signs and Treatment

When you have thrombosis, the affected area will hurt, swell, turn red, and feel warm. Between 15% and 30% of individuals with PNH experience blood clots. Recognising these symptoms early is critical for getting help and managing them on time. Managing thrombosis in PNH involves both preventing clots from forming and treating them when they occur.

Treatments

The video about Advances in Science and Treatment of PNH

To treat PNH, most doctors try to ease the symptoms and prevent problems from happening. How you are treated will depend on how severe your symptoms and illness are.

If you only have a few signs of anemia, you may need to take certain actions:

Folic acid can help your bone marrow, make more healthy blood cells

Extra iron to help the body make more red blood cells

Soliris contains eculizumab. This medicine stops red blood cells from breaking down. Blood clots can be avoided, anemia can get better, and people may not need blood donations at all. It may make you more likely to get meningitis, so you might need to get protection against it.

Empadelli, or pegcetacoplan, is a targeted therapy that can be given to people who have never been treated before or who are moving from eculizumab or revulizumab.

Ravulizumab (Ultomiris). Ravulizumab is very much the same as eculizumab, but it has been shown to last longer. Patients no longer need treatments every two weeks; they only need six or seven a year.

These are some other treatments:

These treatments include blood transfusions. These treatments help manage anemia, the most common issue associated with PNH.

These treatments aim to reduce blood levels. These drugs lower the risk of blood clotting.

Stem cell transplant from bone marrow. This is the only way to treat PNH. You can get one if you can get a healthy person, like a brother or sister, to give you stem cells to replace the ones that are dying in your bone marrow. These aren't "embryonic" stem cells.

Doctors usually only give bone marrow transplants to young people with severe PNH because they are very dangerous to their health. If your doctor says it might help you, talk to them about the pros and cons.

If your PNH doesn't get better with the normal care, you might want to ask your doctor if you can join a clinical trial. New ways to treat PNH are being tried out in these tests before they become available to everyone. Before you sign up, talk to your doctor about what's involved and what you should think about.

Living with PNH

People who have PNH need to see a doctor regularly and be monitored to keep their symptoms under control and avoid complications. Getting help from medical professionals and talking to other people who have PNH can make a big difference in how well you handle this situation.

Conclusion

Rare and dangerous, Paroxysmal Nocturnal Hemoglobinuria is caused by a single genetic mistake in a stem cell. Things have changed in the world today. Complement-inhibiting therapies have transformed PNH into a chronic illness that many people can manage. These therapies have greatly reduced the most dangerous complications of the disease and improved the quality of life.

How Older Women Can Regain Energy

Overview

Women may feel less energetic as they age. That emotion is not necessarily a sign of ageing for many women. People often fatigue more with age. It's because they're not sleeping enough, eating well, or exercising—not because they're older. Many lifestyle and health variables can induce weariness and poor energy in women, especially as they age. Talk to your doctor about treating weariness that worries you or affects your daily life.

As my next paragraph will show, a simple daily habit will boost your energy.

What are the symptoms of low energy?

Fatigue causes energy and motivation deficits. While sleep-related disorders may cause fatigue, this is different. Fatigue can cause lethargy in the body and mind. Hormonal imbalances can cause it.

Other low-energy and weariness symptoms:

Stress or burnout
Boredom or mental inactivity
Overstimulation
Change in diet
Dehydration
Loneliness
Depression, anxiety, and mental illness

Reasons Older Women Lack Energy

Lifestyle changes can lower energy. It can sometimes indicate more significant health difficulties, especially as you age.

Unequal hormones
Fatigue can result from endocrine system or hormone disorders.
Hypothyroidism, which disrupts TSH, causes weariness.
Women over 60 who are pregnant are most likely to have hypothyroidism.
Rapid progesterone changes might also cause weariness.
Adrenal insufficiency and Addison's disease can cause fatigue. This condition may be because your adrenal glands produce insufficient cortisol or aldosterone.
Low estrogen and testosterone levels can induce exhaustion, mood swings, and poor sleep.

Sleep Problems

Chronic sleep deprivation also hinders the release of growth hormone, which is essential for your body to rebuild itself at night. For example, not getting enough sleep can lead to fatigue.
Adults still need 7–9 hours of sleep most nights. Only after the age of 65 does the average sleep duration drop to 7–8 hours.
Your sleeping needs differ, though.
Young adults have expanding brains and bodies, increased physical activity, and faster metabolisms, which require more sleep.

Sleep improvement suggestion

Sleep quality, as well as sleep quantity, can have an impact on energy levels. Adjusting your sleep habits may help you get enough sleep if you have difficulties falling asleep, wake up frequently, or wake up weary.
Poor energy may be the cause of sleep disorders, including sleep apnea or restless leg syndrome. Ask your doctor about sleep studies and treatments if you snore, experience leg movements, or have other sleep disorders.

Menstruation, menopause

Days before your period, your energy usually drops. This frequently causes women to feel weary. Some women have heavy periods, which can reduce iron levels and make them tired.
As your monthly cycle ends, your energy levels may alter during perimenopause and menopause. Body hormone fluctuations may cause this. Other menopausal symptoms also drain vitality.
Perimenopause and menopausal symptoms like hot flashes can impair sleep, making women weary.

Exercise

Romm says she sees it in her 30- and 40-year-old patients: lack of activity makes you sleepy.
Regular exercise boosts energy because muscle maintenance produces mitochondria, which affect energy. Exercise increases brain oxygen flow, which boosts energy.
Most individuals need 150 minutes of moderate exercise and two muscle-building days each week. Walking and doing housework are moderate physical exertions.
Ask your doctor for an activity plan if you're worried about your capacity.

Also, read https://www.griswoldcare.com/blog/fatigue-in-elderly-adults/.

Diet

If your diet lacks minerals and protein, you may feel tired. Anaemia, dizziness, heart palpitations, and shortness of breath can result from low iron.
A diet high in fats, sweets, and simple carbs may lower your energy. Simple carbs momentarily improve energy but lower it when blood sugar drops.

These foods to be avoided

White pasta and bread are processed grains.
Candy
Yogurt sweetened with fruit
Sugary cereals
Cakes and cookies
Both alcohol and coffee can boost or lower energy. They can also influence sleep schedule and quality, causing exhaustion.
Complex carbs, such as those in fruits, vegetables, and whole grains, stay in your body longer and give more energy.
Consult your doctor and a registered nutritionist before making major diet changes. Remember: No diet works for everyone. There are probably hundreds of healthy diets and cultural eating styles.

Stress

Stress affects many elements of mental and physical health, including energy. Stress and fatigue feed each other and intensify their consequences.
Stress, sleep disorders, depression, worry, and lack of exercise can all create fatigue. It can also disrupt hormones.
Stress can come from home, work, and everything in between for many women. Not all sources are related to aging.
In addition to psychological concerns, intestinal issues, nutritional shortages, and hormone imbalances can cause stress.

Boost Your Energy

You may consume sugary energy drinks or coffee to boost your short-term energy levels. These options may cause additional weariness later.
When trying to enhance your energy, evaluate the sources of your exhaustion.

You might want to:

Adjust your sleep schedule or nap. Even short sleeps can boost alertness, especially for shift workers, according to research.
Get a brief workout to increase blood flow.
Eat eggs, almonds, and skinless, lean chicken to counteract weariness.
Daily activities should be healthy for your body and mind.

Gentle recommendation

Go outside for some sun.
Socialize.
Do enjoyable or meaningful tasks.
Reduce stress.
Mindful breathing exercises.

When to Call the Doctor

You may be more weary than usual for more than just your age. If lifestyle adjustments don't work and fatigue persists, other causes may be involved.
After trying these simple procedures and failing, see a doctor. You either haven't done enough of those things and need expert help, or there's a greater issue.
Your doctor may inquire about your daily schedule and emotions. They may also test for thyroid disorders.
Myalgic encephalomyelitis, also known as chronic fatigue syndrome, can make it difficult to carry out daily tasks. 3.3 million US adults may have ME/CFS, although over 90% are undiagnosed. You should see a doctor if you can't boost your energy. Chronic problems are tougher to treat.

Practicing pranayama and meditation can effectively alleviate low energy levels. A daily 30-minute commitment works wonders.

Conclusion

Lifestyle and health issues can cause weariness, especially in older women. Low energy may be caused by hormone imbalances or menopause. Lack of exercise, diet, and stress may contribute. Fixing the cause of your exhaustion is better than drinking more coffee or energy drinks, which might worsen it. Discuss treatment with your doctor if lifestyle changes worsen your fatigue or impair your daily life.

Myelofibrosis Explained: From Bone Marrow to Everyday Life

Myelofibrosis: Definition

Myelofibrosis is a rare form of blood cancer that makes the bone marrow, which is the soft, spongy tissue in the middle of most bones, scarred. People consider myelofibrosis to be a type of chronic leukemia that affects tissues that make blood. Myeloproliferative neoplasms are a group of blood cancers that are linked to this one.

Melanofibrosis signs

Anemia-related symptoms:
Fatigue and weakness
Shortness of breath
Pale skin
Abdominal pain or fullness.
Quick satiety after eating
Easy bruising
Constant nosebleeds or gum bleeding

Systemic and bone symptoms:

Bone ache
Night sweats
Fever
Unusual weight loss
Abnormal white blood cells increase the risk of infection.

Rare yet Important Symptoms

Discomfort and digestive issues.
Rapid cell turnover raises uric acid.
Chronic weariness affects daily living.

Symptom Variability

Symptomless people are diagnosed with standard blood tests.
Others may deteriorate as bone marrow scarring increases.
Marrow fibrosis and organ involvement determine severity.

Methods of Treatment

Medication to reduce spleen size, improve anemia, or control abnormal blood levels.
JAK inhibitors like ruxolitinib can control symptoms.
Stem cell transplant: The only solution, but risky and reserved for younger, healthier individuals.
Support: Transfusions, growth factors, lifestyle changes.

Internal Body Events

Scar tissue replaces healthy stem cells, limiting the marrow's ability to create red blood cells, white blood cells, and platelets.
The body produces too many faulty blood cells, crowding out normal ones.
As the marrow fails, the liver and spleen try to generate blood cells, causing them to expand.

Impacts on Different Systems

Blood and Circulation:
Severe anemia causes weariness, weakness, and breathlessness.
Low platelets cause easy bruising and bleeding.
Abnormal white cells increase infection risk.
Liver and Spleen: Splenomegaly: Causes abdominal pain, fullness, and early satiety.
Hepatomegaly: Can cause stomach difficulties and pain.
Immune System: Abnormal white blood cells can reduce infection resistance.
Marrow alterations can cause bone and joint pain in the skeletal system.
Systemic symptoms include night sweats, fever, weight loss, and energy reduction.

Long-term impact

As marrow scarring increases, myelofibrosis worsens.
It may become acute myeloid leukemia (AML), a more aggressive blood malignancy.
Life quality: Chronic weariness, discomfort, and organ enlargement impair daily life.

Types of MF

Myelofibrosis can be primary (develops on its own) or secondary (arises from other blood malignancies such as polycythemia vera or essential thrombocythemia).

M. fibrosis types

De novo Primary Myelofibrosis (PMF) occurs without a preexisting blood condition.
Usually caused by JAK2, CALR, or MPL mutations that cause aberrant blood cell proliferation.
Scarring in bone marrow reduces blood cell generation.
Post-Essential Thrombocythemia Myelofibrosis after polycythemia vera

Complications of other myeloproliferative neoplasms:

Polycythemia vera (PV): Excess red blood cells.
The disease of excessive platelet production is essential thrombocythemia (ET).
These disorders can progress to myelofibrosis with marrow scarring and systemic symptoms.

Clinical Differences

Feature Primary MF Development of secondary myelofibrosis is independent. From PV/ET evolves
Gene mutations. JAK2, CALR, MPL. Similar mutations after progression
Onset typically occurs later in life. Symptoms after years of PV or ET. Systemic symptoms, anemia, splenomegaly Similar but frequently after a long PV/ET history.

Why Classification Matters

Diagnosis: Determines main or secondary disease, which affects prognosis.
Treatment: Secondary patients have a longer disease history and may require JAK inhibitors, transfusions, or stem cell transplants.
Prognosis: PV or ET duration affects secondary myelofibrosis chances.

Main causes

Mutations in genes:

The JAK2 mutation, which is observed in half of the cases, leads to abnormal blood cell proliferation.
CALR mutation: Found in 25–30% of cases; related to platelet problems.
The PL mutation is rare, but it plays a crucial role in regulating blood cells.
Mutations in bone marrow stem cells cause them to proliferate uncontrollably, leading to fibrosis.
First vs. second myelofibrosis
Mutations cause spontaneous primary myelofibrosis.
Conditions such as polycythemia vera or essential thrombocythemia can lead to secondary myelofibrosis.

Possible Risks

Adults over 50 years old are most commonly diagnosed with myeloproliferative neoplasms.
The risk of other blood cancers increases for individuals with a history of Polycythemia Vera (PV) or Essential Thrombocythemia (ET).
Environmental factors: While genetic mutations are the primary cause, chemicals and radiation can also occasionally contribute.

How it causes disease

Mutated stem cells cause the synthesis of abnormal blood cells.
The overproduction of damaged cells leads to scarring in the bone marrow.
Scarred marrow may hinder the production of healthy red blood cells, white blood cells, and platelets.
The body produces blood cells in the spleen and liver to compensate for the impaired production in the bone marrow, which leads to organ enlargement and systemic symptoms.

Myelofibrosis diagnosis

Myelofibrosis is diagnosed through blood tests, imaging studies, bone marrow biopsies, and genetic research to confirm the presence of scarring and mutations.

Steps in Diagnosis:

Medical History & Physical Exam
Doctors look for symptoms such as exhaustion, nocturnal sweats, weight loss, and abdominal fullness.
Physical exams may detect an enlarged spleen or liver.

Blood tests

Anaemia, aberrant white blood cells, and low platelets are common in CBCs.
A peripheral blood smear shows leukoerythroblastosis and aberrant blood cell morphologies.
Marrow Tests
Biopsy with bone marrow aspiration:
Presents fibrosis.
Platelet-producing megakaryocytes are aberrant.
This method is considered the gold standard for the confirmation of myelofibrosis.
Gene & Molecular Testing
It identifies JAK2, CALR, or MPL mutations that cause aberrant cell growth.
It distinguishes myelofibrosis from other myeloproliferative neoplasms.

Imaging Exams

Imaging exams, such as RI or ultrasound, measure the size of the spleen and liver.
Tracks illness development.
Additional Tests
Analyzes chromosomes for abnormalities.
IPSS, DIPSS, and MIPSS risk scoring: A prognostic and therapeutic tool.

Diagnostic Challenges

Early signs of myeloproliferative neoplasms may resemble those of other blood diseases.
Some asymptomatic patients require routine blood tests for diagnosis.
Clinical, laboratory, and genetic findings must be integrated.

Treating MCF

The video about the latest advancement in treating Myelofibrosis

Treating myelofibrosis involves managing symptoms, improving quality of life, and slowing disease progression. In some situations, stem cell transplantation is the only solution; however, JAK inhibitors like ruxolitinib are standard treatment.

Current Treatment Options:
JAK Inhibitors (Standard of Care):
Ruxolitinib lowers spleen size and systemic symptoms but may aggravate anaemia.
Rutolitinib-intolerant patients can take Fedratinib.
Momelotinib can boost haemoglobin, which is beneficial for anaemia sufferers.
Patients with low platelet counts benefit from pacritinib.

Risk in treatment

Interferons that are pegylated provide long-lasting molecular reactions.
This treatment is particularly beneficial for younger driver mutant patients (JAK2, CALR, MPL).
Stem cell transplantation is the only curative treatment available, but it carries significant risks.
This condition can affect younger, healthier patients as well as those who are aggressively ill.
Blood transfusions for anemia are considered supportive care.
Erythropoietin and G-CSF are used to stimulate the growth of blood cells.
Rarely, spleen enlargement requires splenectomy or radiotherapy.

New therapies and trials

New drugs under study include combinations of JAK inhibitors.
These diseases primarily target fibrosis and inflammation.

ASCO & SOHO clinical trials:

Promise to extend therapy options, especially for anaemic or thrombocytopenic patients.

Treatment Goals

Spleen pain and size reduction.
Improve blood levels and anemia.
Manage systemic symptoms such as fatigue, night sweats, and weight loss.
AML progression can be delayed.
Boost life quality.

Also read https://www.health.com/myelofibrosis-8405280.

Cure for Myelofibrosis?

Stem cell (bone marrow) transplantation may cure myelofibrosis. Most treatments aim to reduce symptoms, improve quality of life, and limit disease progression.

Curative Choice

Allogeneic stem cell transplant (bone marrow transplant) is the only treatment that may cure myelofibrosis.
It replaces damaged bone marrow with healthy donor stem cells.
Complex surgery with risks includes infection and graft-versus-host disease.
Ideal for younger, healthier, aggressive illness patients.

Effective Non-Curative Treatments

JAK inhibitors (ruxolitinib, fedratinib, momelotinib, and pacritinib): Improve quality of life, lower spleen size, and control symptoms.
Transfusions, growth factors, and anemia/platelet medicines are supportive therapy.
Splenectomy or radiation is rarely performed to treat significant spleen enlargement.
Clinical trials are currently testing new fibrosis medications aimed at increasing patient survival.

Facts of Cure

Most myelofibrosis patients experience a chronic, progressive illness that is managed with medications and support.
The cure, a stem cell transplant, is not for everyone owing to hazards.
Some patients experience a long-term moderate condition, whereas others may develop acute leukaemia.

Myelofibrosis complications

Myelofibrosis can cause severe anemia, enlarged spleen, bleeding risk, bone discomfort, and acute myeloid leukemia.

The main complications of myelofibrosis include severe anemia.
Scarred bone marrow cannot produce enough red blood cells.
Causes weariness, weakness, and breathlessness.
Splenomegaly (Enlarged Spleen) When the marrow fails, the spleen produces blood cells.
Causes stomach pain, fullness, and early satiety.
Can strain on adjacent organs, causing back or belly pain.

Blood Issues

Low platelet counts can cause nosebleeds, easy bruising, and persistent bleeding.
Painful bones and joints
Chronic pain can result from fibrosis and abnormal marrow activity.
Extramedullary Hemopoiesis
Non-marrow blood cell production (liver, spleen, lymph nodes).
Noncancerous tumors can impair organ function.

Portal hypertension

An enlarged spleen and irregular blood flow might increase portal vein pressure, causing digestive issues.

Gout

Rapid blood cell turnover raises uric acid levels, causing joint pain.

Infections

Abnormal white blood cells reduce immunity, making patients more susceptible to infections.
Progress to AML
Myelofibrosis can become aggressive AML in 10–20% of patients.

Conclusion

Myelofibrosis, a rare and persistent blood cancer, leads to scarring of the bone marrow that impacts blood cell production. Myelofibrosis can develop independently or from other myeloproliferative diseases.

Progressive myelofibrosis disrupts blood cell production and organ involvement, affecting the entire body. Most treatments try to manage symptoms and enhance quality of life, but stem cell transplantation is the sole cure. Patients can better manage this complex disease with early diagnosis, thorough monitoring, and individualized treatment.

A Guide to Gonorrhoea Awareness and Treatment

What is Gonorrhoea?

Gonorrhea is a common STI that is spread through sexual contact. It is caused by the bacteria Neisseria gonorrhoeae. It usually affects the groin area, but it can also happen in the throat or anus (rectum).

Gonorrhea can be transmitted through oral, anal, or vaginal sex.

Babies who come into contact with an infected mother's birth canal during labour can get gonococcal conjunctivitis, which means their eyes will be red and sore. If you don't treat it quickly and correctly, it could lead to vision loss.

Important Gonorrhoea Facts:

Cause: Neisseria gonorrhoeae.

Sexual contact can occur through vaginal, anal, or oral routes. The mother can pass the infection to the baby during childbirth.
The infection can spread to the urethra, cervix, rectum, throat, mouth, and eyes, among other areas.
It is commonly known as "the clap" or "the drip."
Untreated complications can lead to infertility in both men and women due to damage to reproductive organs.
Women may experience pelvic inflammatory disease.
Male epididymitis.
Increased HIV risk.
This condition has the potential to spread to joints or the bloodstream, leading to serious disease.

Treatment & Obstacles

Antibiotics can treat some strains of Neisseria gonorrhoeae, but antimicrobial resistance is spreading worldwide.
Premediating problems requires prompt medical attention.

Prevention

Use condoms regularly.
Regular STI screening is crucial, particularly for sexually active individuals.
It is important to practice monogamy with a partner who is not infected.
Avoid sexual contact with symptoms.

The Global Burden

Globally, 82.4 million people contracted new infections in 2020.
STIs like gonorrhoea are common worldwide, and resistance is a worry.

Who is at risk?

Gonorrhoea can affect any sexually active person; however, particular groups and activities are more likely.

High-risk groups and situations

Young persons under 25: Teens and young adults have more gonorrhoea.
New or more sexual partners: Sex with new partners without barriers is risky.
Vaginal, anal, or oral intercourse without condoms or dental dams is risky.
MSM: Especially unprotected anal intercourse.

Susceptibility increases with STI history.

Geographic exposure: Sexual activity with partners from gonorrhoea-endemic areas.
Babies born to women with untreated gonorrhoea can contract it during childbirth.

The Vulnerability of These Groups

Women may be asymptomatic, making detection and transmission tougher.
Inconsistent condom use, several relationships, and delayed STI screening.
Social factors: Stigma, healthcare access, and STI preventive ignorance.

Gonorrhoea symptoms?

Many people, especially women, experience no symptoms of gonorrhoea, which depends on the site of infection. The presence usually occurs within 2 weeks after exposure.

Symptoms in Women

Urinating hurts
Yellow or green vaginal discharge increases
Between-period bleeding
Pelvic or abdominal pain (potential pelvic inflammatory illness)
Intercourse pain

Symptoms in Men

Urinating burn
White, yellow, or green penis discharge
Rarely, painful or enlarged testicles

Other Site Symptoms

Anal irritation, discharge, discomfort, or bleeding.
Sore throat, enlarged lymph nodes (often minor or undetectable).
Eyes: Pain, light sensitivity, pus-like discharge, swelling.
Joints (rare spread infection): Pain, edema, fever.

How is gonorrhoea diagnosed?

Lab tests on urine or swabs from the afflicted area detect Neisseria gonorrhoeae, confirming gonorrhoea.

The Main Diagnostic Methods

Urine test: A non-invasive, basic test.
Urine bacterial DNA detection is useful for men with urethral infections.
Swab tests involve sampling from the urethra, cervix, vagina, rectum, or throat based on symptoms and exposure.
Lab tests verify infection with swabs.
Under a microscope, a Gram stain of urethral discharge can reveal Gram-negative diplococci.
In women, this process is faster but less sensitive.
In culture testing, bacteria are grown in the lab to confirm the diagnosis.
With drug resistance rising, antibiotic susceptibility testing is essential.
The most sensitive and widely used approach is NAAT (Nucleic Acid Amplification Test).
The test detects bacterial genetic material from urine or swabs.
It can identify infections even in the absence of symptoms.

Extra Considerations

Screening: Recommended for high-risk sexually active people (under 25, numerous partners, MSM).
Co-testing: Often done with chlamydia testing because they often occur concurrently.
Some locations offer at-home tests, but positive results must be confirmed by a doctor.

Why Diagnosis Matters

Early identification reduces pelvic inflammatory disease, infertility, and systemic infection.

The global surge in antibiotic-resistant gonorrhea strains makes accurate testing crucial for treatment. NAAT is most accurate, although culture is essential for antibiotic resistance monitoring. Chlamydia screening and co-testing are common.

Gonorrhoea treatment?

The video about the treatment of Gonorrhea

For gonorrhoea, a single intramuscular injection of ceftriaxone is given, occasionally with oral doxycycline if chlamydia is suspected. Growing antibiotic resistance necessitates culture and sensitivity testing for therapy.

Standard Treatment

First-line treatment: Ceftriaxone 1 g IM, single dose.
If chlamydia remains, take 100 mg of Doxycycline twice daily for 7 days.

Alternative regimens:

Used when ceftriaxone is contraindicated or unavailable.
Gentamicin plus azithromycin is less effective and only suggested in certain circumstances.

Culture & Sensitivity Testing is Important

Neisseria gonorrhoeae antimicrobial resistance is a global issue.
Culture testing lets medics determine which drugs work for resistant bacteria.
WHO and BASHH (UK) recommend surveillance and individualized treatment for resistance.

Additional Management Steps

Test and treat sexual partners to prevent reinfection.
Abstain from sexual activity until treatment is complete and symptoms subside.
Culture test: Recommended for resistant cases, chronic symptoms, or pharyngeal infection.
Besides gonorrhoea, patients are often tested for chlamydia, syphilis, and HIV.

Key Takeaway

Ceftriaxone IM injection is still the best, although resistance is rising.

Preventing reinfection and consequences requires partner therapy, abstinence, and follow-up testing.

Global health bodies emphasize antibiotic stewardship and surveillance to maintain treatment efficacy.

Reduce gonorrhoea transmission

Safe sexual practices, screening, timely treatment, and public health interventions reduce gonorrhoea transmission.

Key Transmission Reduction Strategies

Consistent condom use
Use condoms or dental dams for vaginal, anal, and oral intercourse.
This is the best gonorrhoea prevention.

A regular STI screening

Especially necessary for sexually active under-25s, MSM, and multi-partners.
Early detection prevents unknowingly spreading illness.

Fast therapy

Seek medical attention promptly if symptoms arise.
Finish the prescribed antibiotics.
Stop sexual activity until treatment is complete and symptoms improve.
Partner notification/treatment
Tell sexual partners to get tested and treated.
Stops reinfection and spread.
Restrict sexual partners
Partner reduction reduces exposure risk.
Monogamy with an uninfected partner protects.
Avoid symptomatic sex.
Treatment should be given for discharge, discomfort, or burning urination before sexual activity.
Public health measures
Antibiotic resistance monitoring.
Symptom, risk, and prevention education initiatives.

Special Considerations

Screening is necessary for pregnant women to prevent transmission.
MSM, sex workers, and young adults benefit most from testing and education.
Antibiotic resistance: Highlights culture testing and treatment protocols.

How often should I undergo gonorrhoea screenings?

Most sexually active adults should have gonorrhoea testing annually, although high-risk individuals may need more frequent screening.

General Screening Advice

We recommend annual testing for all sexually active persons, especially those under 25 years old.
More tests every 3–6 months:
People with several or new sexual partners.
guys who sex guys.
Unprotected sexers.
Screening is recommended for pregnant women during early pregnancy and in the third trimester if at risk.
Post-treatment: Retesting is advised 3 months post-treatment to confirm cure and detect reinfection.

Regular testing matters

Asymptomatic gonorrhea can spread without detection.
Avoids problems: Early identification lowers pelvic inflammatory disease, infertility, and systemic infection.
Transmission stops: Early infection detection protects partners and babies.
Tracks antibiotic-resistant microorganisms.

Conclusion

Neisseria gonorrhoeae causes gonorrhoea, a common yet dangerous STI. Antibiotics can treat it, but antimicrobial resistance makes prevention and early detection crucial.
Thus, gonorrhoea can be prevented, detected, and treated if people and communities practice safety, test regularly, and treat responsibly.

Comprehensive Approach to Huntington’s Disease Care

Describe Huntington's Disease

Huntington's disease, a rare, inherited brain ailment, causes nerve cell disintegration and mobility, cognition, and behaviour issues. It usually starts between 30 and 50, but juvenile cases can start earlier, and symptoms intensify.

What Is Huntington's?

Origin: Genetic mutations in the HTT gene create an aberrant huntingtin protein. The faulty protein produced by the disease affects neurons, particularly in areas related to memory and motor control.
Autosomal dominant inheritance provides each child a 50% chance of inheriting the gene from one parent.
Progression: This neurological condition worsens over time.

Symptoms

Over time, Huntington's disease symptoms impair mobility, cognition, and behavior. Juvenile Huntington's disease can begin before the age of 20 and tends to progress rapidly.

Motion Symptoms

Chorea refers to jerky, dance-like movements of the face, arms, and legs.
Poor coordination: Problems with balance, gait, and fine motor skills
Muscle issues: Stiffness, dystonia, and trouble moving
Swallowing and speech issues: Choking, slurred speech, and weight loss from swallowing difficulties

Psychological and behavioural symptoms

Depression, anxiety
Impulsivity, aggressiveness, or irritability
OCD (repetitive thoughts or acts)
Social isolation and indifference

Child Huntington's (under 20)

Instead of chorea, stiffness and slowness
Seizures
Rapid school performance decline
Faster disease progression

Mind Symptoms

Decline in executive function: Trouble planning, organizing, and prioritizing
Memory issues: Short-term memory loss and learning difficulties
Lack of focus: Concentration and processing issues
Impaired judgment: Neglecting one's abilities and making poor decisions

Prognosis:

Symptoms typically start in mid-adulthood and progress over 10-25 years.
Huntington's disease progresses faster in children, leading to seizures and stiffness.
Deaths often result from pneumonia, heart disease, or falls.

Also, read https://patient.info/doctor/mental-health/huntingtons-disease-pro.

Causes

Huntington's disease is caused by an HTT gene mutation that produces an aberrant huntingtin protein that damages brain cells. Autosomal dominant disorders give children a 50% chance of acquiring the ailment if one parent has the faulty gene.

Genes Cause

A mutation in the HTT gene on chromosome 4 involves a CAG trinucleotide repeat DNA sequence.
This pattern repeats 10–35 times in healthy people.
Huntington's illness produces an aberrant huntingtin protein by repeating 36 or more times.
The toxic protein impact occurs when defective huntingtin protein accumulates in neurons, compromising normal cell function, particularly in the basal ganglia and cerebral cortex.
This degenerates brain cells that control movement, cognition, and behaviour.

Genealogy

A single copy of the mutant gene from each parent causes an autosomal dominant illness.
All children of a parent affected by Huntington's disease have a 50% chance of inheriting the mutation.
New mutations can cause Huntington's disease in families that do not have a prior history of the condition.

Child Huntington's

Due to high CAG repeat levels (>60).
Before 20, symptoms arise.
Stiffness, convulsions, and cognitive deterioration accelerate.

Diagnose and treat

Since there is no cure, Huntington's disease is diagnosed through clinical evaluation, family history, and genetic testing and treated by managing symptoms.

Diagnosis

In clinical evaluation, doctors evaluate motor symptoms (reflexes, muscle strength, balance), sensory function (vision, hearing, touch), and psychiatric condition (mood, mental state).
Standardised neuropsychological examinations assess memory, reasoning, language, and spatial skills to detect cognitive impairments.
A psychiatrist can assess mental health, including depression, anxiety, and behavioural changes.
Genetic testing:
Detects aberrant HTT gene CAG repeat expansion to confirm diagnosis.
Imaging (MRI/CT scans) may reveal brain abnormalities, particularly in the basal ganglia and cortex, but they are not conclusive.

Treatment

The video explains the treatment for Huntington's

Although there is no disease-modifying medication, an interdisciplinary management approach aims to improve the quality of life for patients.

1. Medications

Motion symptoms:

Chorea is reduced with tetrabenazine and deutetrabenazine.
Antipsychotics like risperidone and olanzapine may help mobility and mental health.
Psychiatric symptoms: Antidepressants (SSRIs, SNRIs) for depression and anxiety.
Mood stabilizers or antipsychotics for agitation, aggressiveness, or psychosis.

2. Treatments

Physical therapy boosts strength, balance, and mobility.
Occupational therapy: Maintains independence and adapts daily activities.
Speech therapy: Aids swallowing and communication.

3. Support

Weight loss from chorea and swallowing problems may require high-calorie meals.
Counselling and social support: For patients and caregivers' emotional and practical needs.
Genetic counselling: Families must understand hereditary hazards and testing alternatives.

Risk factors

The key risk factor for Huntington's disease is the mutant HTT gene inherited from a parent. Being autosomal dominant, the presence of just one copy of the faulty gene is sufficient to cause the disease.

Main risk factor

Parents with a mutant HTT gene have a 50% chance of passing the gene on to their children.

This makes family history the primary risk factor.

Genetic Info

The AG repeat expansion refers to the HTT gene, which contains a three-nucleotide (CAG) DNA sequence.
Normal: 10–26 times.
36 or more produce aberrant huntingtin protein, increasing risk.

Huntington's disease in kids:

Because of massive expansions (>60 repetitions).
Causes early onset and rapid development before 20.
Age of Onset Symptoms often emerge between 30-50 years.
Repeat counts increase with earlier onset.

Others to Consider

Environmental and lifestyle factors will not cause Huntington's disease.
Mutations alone dictate risk, unlike many illnesses. Diet, exercise, and exposures do not cause it.
Once the condition develops, lifestyle and supportive care can affect symptom severity and quality of life.

Living with Huntington's

A degenerative disease that impairs movement, thinking, and emotions, Huntington's disease requires adaptation. Early management, supportive therapy, and caregiver involvement can enhance quality of life, but there is no cure.

Challenges of Daily Life

Chorea, balance concerns, and muscle stiffness make walking, eating, and speaking tougher.
Cognitive decline: Memory, planning, and decision-making issues affect independence.
Psychological effects: Depression, anger, and anxiety are prevalent and require mental health treatment.
Social changes: Stigma and communication issues may isolate patients.

Strategies for Coping

Medical treatment: Regular checkups, mobility and psychological drugs, and illness monitoring.

Therapies:

Physical therapy for mobility and strength
Occupational therapy for daily chores adaptation
Communicative and swallowing speech therapy
Weight loss from chorea and swallowing problems can be offset by high-calorie diets.
Mental health: Counselling, support groups, and medications reduce stress.

A caregiver's role

Assist with food, mobility, and personal care.
Supporting patients through sorrow, frustration, and identity changes.
Plan ahead: Managing financial and legal decisions when independence declines.

Adjustments to lifestyle

Regular gentle exercise improves mood and mobility.
Home modifications: Safety rails, adaptable utensils, and communication aids promote independence and reduce dangers.
Manage cognitive deterioration with structured daily schedules.
Community support: Patient and caregiver networks alleviate isolation and provide services.

Outlook

Huntington's disease advances over 10–25 years, but early management and assistance can enhance independence and well-being.
Gene-silencing and neuroprotective medication research gives hope for future treatments.

When should I call my doctor?

Contacting your doctor early helps manage Huntington's disease symptoms and prevent complications.

When to Call a Doctor

Symptoms Change
Increased chorea or stiffness suddenly
New walking, balance, or coordination issues
Speech or swallowing problems that cause choking or weight loss

Mental Health & Behavior

Depressive, anxious, or suicidal symptoms
Extreme irritation, aggressiveness, or impulsivity
Sudden mood or personality changes affecting daily life

Cognitive Decline

Impaired memory, judgment, or decision-making Difficulty managing daily chores or finances safely

Medical Emergencies/Complications

Food/liquid aspiration or choking
Epilepsy (particularly in juvenile Huntington's)
Poor balance causes frequent falls and injuries.
Fever, cough, elevated pneumonia risk

Concerns for family and caregivers

When considering genetic counselling for family planning, caregivers may feel overwhelmed or unable to adequately manage symptoms.

Conclusion

HTT gene mutations cause progressive neurological Huntington's disease. The symptoms intensify with time and impact movement, cognition, and behaviour. Early diagnosis, genetic counselling, and comprehensive care can help patients and families manage the illness, which has no cure.

No one can prevent Huntington's disease, but information empowers families. Understanding its genetics, recognising early signs, and getting medical and emotional assistance can enhance quality of life. Gene-silencing and neuroprotective therapy research encourages optimism for advances.

Trypophobia: How to overcome fear of holes.

What does "trypophobia" mean?

Trypophobia is a strong dislike or discomfort caused by groups of small holes, bumps, or patterns that appear over and over again. Some fruits, honeycombs, lotus seed pods, and even some sponges make people with this condition feel sick, uneasy, or even scared.

Important Facts About Trypophobia: The term "trypophobia" is derived from the Greek words "trypta," meaning "hole," and "phobos," meaning "fear." It means a strong dislike of seeing patterns of holes or bumps.

What are triggers for fear?

Pods of lotus seeds
The honeycomb
Sponge or coral
Fruits with a lot of seeds at once, like pomegranates and strawberries
Some pictures of the skin or diseases (which might look like sores or holes)

Feelings of disgust or loathing may indicate an underlying issue.

In some cases, worry or fear
Symptoms in the body like chills, feeling sick, or sweating

Label:

The condition is not officially recognized as a distinct mental disorder.
If the symptoms are severe enough to get in the way of daily life, it may be called a specific phobia.

Possible Causes:

Theories about evolution say that people may think of groups of holes as signs of danger, illness, or bugs.
This reaction might be less about fear and more about disgust, which makes it different from typical phobias.

Possible Treatments:

As part of exposure treatment, triggers are slowly and carefully introduced to lessen sensitivity.
Cognitive behavioral therapy, or CBT, can help you change your negative attitudes toward triggers.
Relaxation methods can help you deal with stress.

Why it's important

Trypophobia shows how trends in the visual world can have a big effect on people's minds, even when they aren't actually dangerous. For some, it's just a little pain, but for others, it can be so bad that they avoid normal things.

Common Symptoms and Signs of Trypophobia:

Extreme disgust (the most usual reaction)
Some people feel fear or worry
Repulsion or a sense of being "creeped out"

Symptoms in the body

Having goosebumps or chills
Feeling sick or vomiting
Skin that sweats or feels cold
Heartbeats or a fast heartbeat
Moving or shaking
Skin that itches or feels like it's crawling

Responses in Behavior

Fear of triggers (for example, not looking at certain things or pictures)
Having trouble focusing when seeing shapes that look like holes
Need to get away or cover your eyes

Level of Severity

Mild cases: Irritation or dislike that doesn't have a big effect.
Moderate cases: strong disgust with bodily signs like feeling sick or getting goosebumps.
Cases that are very bad include anxiety or panic-like reactions, avoidance behaviors, and problems with daily life.

Important Notes

Diagnostic manuals don't list trypophobia as a real mental disease, but if the symptoms are very bad, it might be called a specific phobia.
According to research, the reaction is more about disgust than fear. This may have something to do with how humans have evolved to avoid sickness or parasites.

Also, read https://www.popsci.com/trypophobia/.

Things that usually cause trypophobia

Things like lotus seed pods, honeycombs, sponges, coral, and some fruits that have groups of small holes, bumps, or repeating patterns are common things that set off trypophobia. People who are impacted by these visual patterns often feel disgusted, uneasy, or anxious.

Any Triggers, Man-Made or Everyday

Aerated chocolate, such as that containing bubble-like holes, is a common trigger.
Holes in surfaces, such as showerheads, can trigger trypophobia.
People use pumice stones for skincare purposes.
People often use large foam pieces or Styrofoam for skin care purposes.
There are some themes in architecture or design that feature recurring gaps.

Set off Reactions

According to evolutionary theory, groups of holes may look like signs of sickness, parasites, or decay, which makes people avoid them.
Disgust response: A study shows that trypophobia is linked to disgust more than fear, which makes it different from other phobias.
Sensitivity to visual processing: some people may be more sensitive to high-contrast patterns that repeat.

The main ideas behind trypophobia

The Evolutionary Response to Survival
Groups of holes or bumps might look like warning signs for sickness, danger, or parasites.
For instance, sores on the skin, bug populations, or organic matter breaking down.
This dislike may have developed over time to help people stay healthy and avoid getting sick.

Sickness Instead of Fear

Trypophobia is different from other phobias because it is often linked to disgust instead of pure fear.
In addition to panic, people often describe feelings of disgust, sickness, or skin-crawling sensations.

Sensitivity to Visual Processing

Some studies indicate that people who have trypophobia may be more sensitive to patterns with a lot of difference.
These patterns can overstimulate the brain's visual system, potentially causing pain.

Link Between Skin and Illness Picturery

People may subconsciously associate clusters of holes with skin conditions such as rashes, infections, or diseases, which can lead them to avoid these triggers.

Things that affect the mind

Trypophobia may be more common in people who have anxiety problems or who are very sensitive to disgust.
Cultural exposure, like seeing upsetting pictures online, can make the rejection stronger or even worsen it.

Important Risks

Vulnerability in the mind
People who have depression, anxiety problems, or other phobias may be more likely to get trypophobia.
High sensitivity to disgust, which involves strong reactions to signs of contamination or disease, is a significant predictor.

Genetic and family traits

Anxiety or fears that are present in your family may increase your likelihood of developing similar issues yourself.
Some researchers believe it may be related to genetics, but more evidence is still required.

Exposure to the environment and culture

Repeatedly viewing upsetting images online, such as popular "trypophobia" pictures, can exacerbate symptoms or prolong their duration.
Cultural associations between clusters of holes and concepts like sickness, bugs, or decay may increase people's aversion to them.
Sensitivity to Visual Processing
High-contrast repetitive designs may increase discomfort in individuals who are already sensitive to such stimuli.
This syndrome is similar to situations in which the brain overreacts to certain things it sees.

Age and Gender

Some studies, though not all of them, show that women may report trypophobia more often than men. Symptoms can show up in teens or early adults.

Why risk factors are important

Knowing the risk factors helps doctors and teachers identify those at risk for trypophobia and treat it properly. For instance, people who are very sensitive to disgust might benefit from gradual exposure therapy, while individuals who have anxiety problems might need cognitive behavioral therapy (CBT) help.

Treatment Options Based on Evidence

The video about the treatment to Trypophobia

Treatment by exposure

Trypophobia cues (like pictures of holes grouped together) should be exposed to slowly and safely.
Over time, it helps the brain become less sensitive.
Usually with the help of a mental health professional to make sure they stay safe and make improvements.

Cognitive behavioral therapy (CBT) focuses on finding bad thoughts that are linked to triggers and changing the way you think about them. It teaches strategies for managing stress and modifying avoidance habits to reduce anxiety.

Techniques for relaxing and lowering stress

Mindfulness, meditation, and breathing routines can help you deal with physical symptoms like feeling sick or having a rapid heartbeat.
Progressive muscle relaxation might help ease stress during exposure to triggers.

Medicines (for serious cases)

If the symptoms resemble generalized anxiety or depression, antidepressants or anxiety drugs may be prescribed.
These medications are usually considered only when treatment alone is insufficient.

Approaches to self-help and lifestyle

Avoiding exposure to distressing images on the internet can be beneficial.
Practicing grounding methods, such as focusing on the present moment when feeling upset, can be beneficial.
Sleep, exercise, and a well-balanced diet are all beneficial habits that can help you become more resilient.

Notes That Are Important

Trypophobia is not officially listed as a separate disease in diagnostic manuals, but if symptoms are severe, it can be treated like a specific phobia.
Reservations don't always work. Some people do well in therapy, while others deal with their problems by avoiding things that make them feel negative and relaxing.
If trypophobia interferes with your daily life, you should consult a professional.

Conclusion

Trypophobia is a dislike for groups of small holes, bumps, or patterns that show up over and over again. They can make you feel very sick, uncomfortable, or anxious. Even though trypophobia is not officially classified as a mental illness, it can significantly impact the lives of those who experience it.

More Comprehensive View

Trypophobia demonstrates how visual patterns can significantly impact people's minds, even when they do not pose a real threat. Patients and doctors can better manage symptoms if they know their triggers, causes, and treatments.

Awareness of Urticaria: Handling the Itching and Beyond

Overview of Urticaria

Red, itchy welts that can occur quickly and linger anywhere from minutes to weeks are the hallmark of urticaria, often known as hives. It can be triggered by allergies, infections, or certain medications, but sometimes the cause remains unknown. It can be acute (short-term) or chronic (lasting more than six weeks).

What is Urticaria?

Definition: Urticaria, often known as hives, are elevated, itchy skin welts that are frequently encircled by redness.

The term's origin: derived from the stinging nettle, Urtica dioica, which is reflected in the nettle-like rash.

Types of Urticaria

Acute urticaria resolves in less than six weeks.
Chronic urticaria: lasts more than six weeks.
Spontaneous: happens without an obvious cause.
Physical stressors, such as pressure, cold, heat, or exercise, can cause induction.

Signs and symptoms

Red or skin-colored pimples that have the potential to combine into larger patches are known as itchy welts.
Lesion durations can range from a few minutes to an entire day, although new lesions may continue to appear.
These lesions may be accompanied by deeper swelling of the throat, eyelids, or lips.
Rash frequently migrates; new welts form elsewhere, and old ones diminish.

Making a diagnosis

Clinical assessment: Predicated on history and look.
Tests include blood work, allergy testing, and, in chronic situations, the exclusion of thyroid and autoimmune diseases.

Therapy

Non-sedating antihistamines (loratadine, cetirizine) are the first line.
In extreme situations, corticosteroids or adrenaline (epinephrine) if anaphylaxis is suspected.
Lifestyle: Wear loose clothing, stay away from recognized triggers, and control your tension.
Chronic management: Under specialized care, immunomodulators (such as omalizumab) may be necessary.

Prevention

Acute hives typically go away in a few days to a few weeks.
Chronic hives are not communicable but can last for months or years.
Prevention strategies include keeping a symptom journal, identifying and avoiding triggers, and getting medical help for severe or recurring episodes.

Important Information on Urticaria (Hives):

Up to 20% of individuals will get urticaria at some point in their lives. It normally appears as itchy welts that go away in a day, but it might return for weeks or months. While chronic urticaria lasts longer and frequently necessitates medical assessment, acute instances last fewer than six weeks.

Urticaria Causes

Although there is frequently no known cause for chronic urticaria (hives), the most common causes include allergic reactions, infections, drugs, or physical triggers.

1. Reactions to Allergies

Foods include milk, eggs, seafood, nuts, and some additives.
Medication: NSAIDs (aspirin, ibuprofen), antibiotics (penicillin, sulfa medicines).
Insect bites or stings: Wasps, bees, and mosquitoes.
Animal dander or latex: Hives can be triggered by contact allergies.

2. Infections

Viral illnesses (hepatitis, common cold).
Bacterial illnesses (strep throat, urinary tract infections).
Infections caused by parasites. References:

3. Inducible Urticaria and Other Physical Triggers

Temperature variations: hives brought on by heat and cold urticaria.
Wearing tight clothes, experiencing itching, or feeling vibrations are examples of pressure and friction.
Solar urticaria is caused by sunlight.
Work out or perspire. References:

4. Medical and Internal Conditions

Autoimmune diseases and thyroid conditions.
Hormonal shifts (pregnancy, menstruation).
Emotions and stressors can exacerbate outbreaks.

5. Idiopathic (cause unknown)

Up to 50% of instances of chronic urticaria have no known cause.
When there is no obvious allergen, the immune system may become overactive.

How to Treat Urticaria at Home

The goals of home treatment for urticaria (hives) are to minimize flare-ups, reduce itching, and stay away from triggers. The best methods are cool compresses, antihistamines, and lifestyle changes.

Useful Advice for Home Care

Reduction of Symptoms

Chilly compresses or baths: To relieve itching and minimize swelling, apply a cold, moist cloth or take a chilly shower.
Soft, loose clothing helps delicate skin avoid discomfort and friction.
Moisturizers: Mild, odourless lotions support the preservation of the epidermis.

Support Over-the-Counter

Non-sedating antihistamines: fexofenadine, cetirizine, or loratadine help lessen rash and itching.
Steer clear of aspirin and NSAIDs, as they can exacerbate hives in certain individuals.

Prevention & Lifestyle

Determine triggers: Record foods, drugs, stress, and environmental exposures in a symptom diary.
Steer clear of recognized allergens: Nuts, eggs, seafood, and several medications are common offenders.
Stress management: Yoga and meditation are examples of relaxation strategies that can help lessen flare-ups.
Controlling the temperature: Steer clear of hot showers, unexpected cold exposure, and overheating if these cause hives.

Natural Treatments (helpful)

Aloe vera gel has a calming and cooling impact on skin that is inflamed.
Green tea or turmeric's anti-inflammatory qualities may lessen flare-ups.
Indian folk remedies have long employed neem or sandalwood paste to soothe the skin.

Also, read https://www.allergyclinic.co.za/urticaria/.

When to Get Medical Assistance

Chronic urticaria, or persistent hives that linger longer than six weeks.
Lips, eyelids, or throat swelling is known as angioedema.
Dizziness or trouble breathing could be signs of anaphylaxis; seek emergency medical attention.

Alternative Urticaria Treatments

Herbal remedies, acupuncture, homeopathy, stress reduction, and dietary strategies are some alternative treatments for urticaria (hives). These techniques are frequently combined with traditional antihistamine therapy to enhance quality of life and symptom management.

Alternative & Complementary Methods

1. Herbal Treatments

Aloe vera gel has a calming and cooling impact on skin that is irritated.
The anti-inflammatory and antioxidant qualities of turmeric (curcumin) may lessen flare-ups.
Extracts of neem, sandalwood, and basil have long been utilized in Ayurvedic medicine to soothe the skin.
Polyphenols included in green tea have the potential to alter immunological responses.

2. The use of acupuncture

Shown in certain tests to lessen hive frequency and itching.
Works by adjusting the activity of the neural and immune systems.

3. Homeopathy

Sometimes, remedies like Urtica urens (nettle) or Apis mellifica (bee venom) are utilized.
Although there is little data, several people claim that their symptoms have improved.

4. Stress-Reduction Methods

Breathing techniques, yoga, and meditation might lessen flare-ups brought on by stress.
Psychological stress frequently makes chronic urticaria worse.

5. Modifications to Diet and Lifestyle

Identifying and avoiding food triggers, such as shellfish, nuts, and eggs, is the goal of elimination diets.
Low-histamine diet: Cutting back on fermented foods, aged cheese, and alcohol.
Probiotics may lessen immunological hyperactivity and assist in balancing the gut bacteria.

Important Information

Evidence base: Alternative therapies complement medical care rather than taking its place.
Safety: To prevent drug interactions, herbal and homeopathic medicines should only be used under a doctor's supervision.
The best method: For best results, take prescription antihistamines in conjunction with stress reduction techniques and lifestyle modifications.

To Visit a Specialist

The kind, intensity, and duration of your urticaria (hives) symptoms will determine which specialist is best for you. Here is a detailed guide:

Urticaria specialists

1. Primary Care Physician (General Practitioner/Family Physician)

Initial contact for severe hives.
Able to assess potential triggers and provide antihistamines.
Aids in determining whether a specialist referral is required.

2. Dermatologist

Knowledgeable about skin disorders.
Ideal for recurring hives or chronic urticaria.
Can exclude other skin conditions that resemble hives.
Offers cutting-edge systemic and topical therapy solutions.

3. Immunologist/Allergist

Vital if hives are thought to be caused by allergies to foods, drugs, or insect bites.
Identifies allergens by conducting patch, blood, or skin prick testing.
Handles instances involving angioedema or anaphylaxis risk.
Able to recommend cutting-edge treatments (omalizumab for persistent urticaria, for example).

4. Emergency Medical Professional

Required if anaphylactic symptoms, including dizziness, throat swelling, or trouble breathing, accompany hives.
Administering epinephrine right away could save a life.

5. Additional Experts (if there is a suspected underlying problem)

Endocrinologist: If there is a connection between autoimmune disorders and thyroid illness.
Regarding autoimmune urticaria, consult a rheumatologist.
Psychiatrist or psychologist: If anxiety or stress is a significant trigger.

Conclusion

Itchy welts and occasionally deeper swelling (angioedema) are the hallmarks of urticaria, or hives, a common skin illness that frequently resolves on its own. Acute urticaria typically goes away in a few days or weeks, but chronic urticaria can linger for months or years and have a major negative impact on quality of life.

Antihistamines and lifestyle modifications can typically help control urticaria. Finding triggers and keeping an eye on symptoms are crucial, as is getting medical attention for severe, systemic, or chronic reactions. Most patients can retain their quality of life and attain good control with the right therapy.

Dravet Syndrome Explained: From Seizures to Support

What is Dravet Syndrome?

Dravet Syndrome, a rare, severe epilepsy that originates in infancy and is commonly connected to genetic abnormalities, causes drug-resistant seizures and developmental impairments.

Definition: Dravet Syndrome, formerly SMEI, is a developmental and epileptic encephalopathy. It resists normal treatments, making it one of the hardest childhood epilepsies.

It affects approximately 1 in 15,700 people, making it a rare condition.

Genetic Basis: Mutations in the SCN1A gene, which encodes a brain signalling sodium channel, cause most cases.

Symptoms

Seizures: Usually start between 6-12 months of age, often due to fever.
Greater than 5 minutes (status epilepticus risk).
Tonic-clonic, myoclonic, absence, and focal seizures.

Impact on Development:

Delays in speech, language, and motor skills.
Poor balance, coordination, and walking.
Behavioral issues include hyperactivity or autism.
Sleep difficulties, sudden unexpected death in epilepsy (SUDEP), and temperature sensitivity are other issues.

Management & Treatment

The video explains the new approach to treatment.

Seizures often resist typical anti-seizure medicines. Valproate, clobazam, stiripentol, CBD, and fenfluramine are options.
Avoiding drugs: Sodium channel blockers like carbamazepine and lamotrigine exacerbate seizures.
Assistance: Physical, verbal, and behavioural therapy.
Rescue drugs for protracted seizures.

Prognosis:

Lifelong condition with increasing symptoms.
While seizures may reduce with age, developmental and cognitive problems remain.
Early diagnosis and customised treatment can increase life expectancy.

Who is affected by Dravet Syndrome?

Most typically caused by SCN1A gene abnormalities, Dravet Syndrome affects newborns and young children between 6–12 months.

Those Affected

Seizures usually start in the first year of life due to fever or illness.
Genetics: Mutations in the SCN1A gene affect brain sodium channel function in 80–90% of patients.
Most SCN1A mutations are de novo (new mutations), not inherited.
Dravet Syndrome affects boys and girls equally.
It is rare, occurring in 1 in 15,700–40,000 live births.

Possible Risks

Family history: Epilepsy or SCN1A mutation in a parent may raise risk; however, most instances are spontaneous.
Fever sensitivity: Dravet Syndrome children are susceptible to fever, heat, and vaccination-induced seizures.
Uncertain environmental cause: Not connected to lifestyle, diet, or prenatal exposures.

Causes of Dravet Syndrome?

A genetic mutation, usually in the SCN1A gene, affects the function of sodium channels in the brain and causes aberrant electrical signalling in Dravet Syndrome.

A genetic cause

The SCN1A gene mutation is seen in 70-90% of cases.
This gene produces a sodium channel protein needed for neuronal signalling.
Mutations damage inhibitory neurons, increasing brain excitability and seizure risk.
Mutations in genes, including SCN2A, SCN1B, GABRA1, STXBP1, and PCDH19 are less prevalent and have been associated with Dravet Syndrome.
These genes regulate neuronal signalling and synaptic function.

Mutations Lead to Symptoms

Sodium channel disruptions: Impair neuron firing.
Imbalance of excitation and inhibition: Causes brain hyperexcitability and seizures.
Development: Abnormal signalling causes cognitive delays, motor issues, and behavioural issues.

Family Lineage

Most de novo mutations: Most SCN1A mutations are spontaneous.
Rare familial cases: Rarely, mutations are passed down in families.

Nongenetic Factors

No environmental cause: Dravet Syndrome is unrelated to nutrition, lifestyle, pregnancy, or infections.
Triggers vs. causes Although fever, vaccines, and heat can cause seizures, they do not cause the condition.

Diagnostics of Dravet Syndrome

Dravet Syndrome is diagnosed by clinical observation, genetic testing, and exclusion of other epilepsy causes.

To diagnose, review the clinical history and seizure pattern.
Beginning of seizures at 6–12 months, often caused by fever.
Seizures last longer than 5 minutes and resist typical anti-seizure drugs.
Generalised tonic-clonic, myoclonic, and focal seizures.

Neurological and Developmental Signs

Slow motor, verbal, and cognitive development.
Gait and coordination issues.
Behavioral issues (hyperactivity, autism).The

Genetic Testing

SCN1A gene mutation occurs in 70–90% of cases.
Other rare gene mutations (SCN2A, SCN1B, GABRA1, STXBP1, PCDH19) may be involved.
Genetic confirmation is the diagnostic gold standard.

The EEG

Early EEG may look normal.
Polyspike or spike-and-wave activity appears later in the EEG.
MRI is often normal in early stages.
Rule out brain structural problems.
Not including other epilepsies
Unlike febrile seizures, Lennox-Gastaut syndrome, and other epileptic encephalopathies.

Key Diagnostic Criteria

Early-onset protracted febrile seizures.
Multiple seizure kinds.
Regression or delayed development.
SCN1A mutation confirmed.

Dravet syndrome complications

Dravet Syndrome causes life-threatening seizures (status epilepticus), developmental delays, behavioural issues, and a higher risk of sudden unexpected death in epilepsy.

Major seizure complications

Status Epilepticus (SE): Seizures lasting over 5 minutes or repeated without recovery.
Common in Dravet Syndrome and a medical emergency.

Acute Encephalopathy (AE): Severe brain impairment from persistent seizures.

It can cause permanent neurological damage.
Sudden Unexpected Epilepsy Death (SUDEP):
Accounts for ~50% of Dravet patient mortality.
Around 73% of SUDEP cases occur before age 11.

Cognitive and developmental issues

Learning issues: Progressive cognitive impairment, especially following seizures.
Language and speech delays: Communication issues require therapy.
Motor problems: Deficient coordination, balance, and gait
Behaviour: Hyperactivity, autism-like traits, and sleep abnormalities.

Medical and Physical Problems

Frequent infections: Fever and illness often cause seizures.
Seizures can result from fever or heat.
The adverse effects of medication Anti-seizure medicines often induce drowsiness, hunger changes, and behavioral difficulties.
Orthopedic concerns: Chronic gait disorders might cause musculoskeletal issues.

Mental Health Issues

Stress: Frequent emergencies and developmental delays strain families.
Many children need physical, occupational, and speech therapy.
Social isolation: Limited resources may challenge families.

Can Dravet Syndrome be prevented?

Due to spontaneous (de novo) genetic changes, most typically in the SCN1A gene, Dravet Syndrome cannot be prevented.

Prevention is not possible due to genetic origin.
New mutations are responsible for most cases.
Lifestyle, diet, and pregnancy do not cause the syndrome because these mutations arise randomly throughout early development.

Environmentally without cause:

Infections, poisons, and maternal health problems do not cause Dravet Syndrome.
Not avoidable by vaccines or drugs:
Vaccinations and fevers can produce seizures in Dravet Syndrome children, but they do not cause the disorder.

Also, read https://www.dovemed.com/diseases-conditions/dravet-syndrome.

What Families Can

Although the syndrome cannot be prevented, comorbidities and seizure triggers can be addressed to improve quality of life:

Genetic testing promptly diagnoses Dravet Syndrome, enabling customized treatment.
Not taking seizure-inducing drugs: Avoid sodium channel blockers including carbamazepine, lamotrigine, and phenytoin.
Management of fever: Early antipyretic medication and monitoring can lower seizure risk.
Temperature safety: Stay cool, avoid hot baths, and limit sun exposure.
Emergency preparedness: Teach caregivers to utilize rescue drugs during extended seizures.
Multidisciplinary support: Physical, linguistic, and behavioral therapies address developmental issues.

Conclusion

Most SCN1A gene mutations cause Dravet Syndrome, a rare, severe, lifelong epileptic condition that occurs in infancy. It causes chronic, drug-resistant seizures, developmental delays, and many cognitive, behavioral, and physical health issues.

Dravet Syndrome is a complex neurological disorder that requires lifelong awareness, caregiver preparedness, and holistic support. While it cannot be prevented, education, awareness, and targeted care measures help families and physicians improve outcomes and quality of life for affected children.