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Duchenne muscular dystrophy – A rare genetic disorder

May 18, 2025 Posted by admin Neurology 0 comments

Overview

Duchenne muscular dystrophy (DMD) is a  rear genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. It predominantly affects males, Muscle weakness becomes increasingly noticeable between the ages of 3 and 5, and most patients use a wheelchair by the time they are 12. During adolescence, heart and breathing muscles weaken, leading to serious, life-threatening complications. Duchenne is caused by a change or mutation in the gene that encodes instructions for creating dystrophin, an essential protein for muscle strength. Dystrophin is a protein that plays a key structural role in muscle fiber function. In healthy muscle, dystrophin interacts with other proteins at the cell membrane to stabilize and protect the cell during regular activity involving muscle contraction and relaxation. Genetic testing can confirm the diagnosis and identify the disease-causing mutation in the dystrophin gene.

Individuals with Duchenne produce little or no dystrophin in their muscle.

Without dystrophin, normal activity causes excessive damage to muscle cells, and over time is replaced with fat and fibrotic tissue. DMD carriers are females who have a normal dystrophin gene on one X chromosome and an abnormal dystrophin gene on the other X chromosome. Most carriers of DMD do not themselves have signs and symptoms of the disease, but a minority do. Symptoms can range from mild skeletal muscle weakness or cardiac involvement to severe weakness or cardiac effects and can begin in childhood or adulthood. boys with DMD usually did not survive much beyond their teen years. Thanks to advances in cardiac and respiratory care, life expectancy is increasing and many young adults with DMD attend college, have careers, get married, and have children. Survival into the early 30s is becoming more common than before.DMD treatment requires multidisciplinary care to coordinate the multiple specialized assessments and interventions needed to maximize function and quality of life for patients. The use of available treatments can help to maintain comfort and function and prolong life. physicians can help create individualized care plans regarding all medical and assistive aspects DMD patients require.

Signs and Symptoms

DMD causes muscle weakness that worsens over time, so common symptoms include:

  • Progressive muscle weakness and atrophy (loss of muscle bulk) that begins in your child’s legs and pelvis. It occurs less severely in their arms, neck and other areas of their body.
  • Calf muscle hypertrophy (increase in muscle size).
  • Difficulty climbing up stairs.
  • Difficulty walking that gets worse over time.
  • Frequent falls.
  • Waddling gait (walk).
  • Toe walking.
  • Fatigue.

Other common symptoms of DMD include:

  • Cardiomyopathy.
  • Breathing difficulties and shortness of breath.
  • Cognitive impairment and learning differences.
  • Delayed speech and language development.
  • Developmental delay.
  • Scoliosis (spine curvature).
  • Short stature (height).

Cause

Duchenne muscular dystrophy (DMD) is caused by a change (mutation) in the gene that gives instructions for a protein called dystrophin. Dystrophin is a critical part of the dystrophin-glycoprotein complex (DGC), which plays an important role as a structural unit of muscle.

In DMD, both dystrophin and DGC proteins are missing, which ultimately leads to the death (necrosis) of muscle cells. People with DMD have less than 5% of the normal quantity of dystrophin needed for healthy muscles.

As people with DMD age, their muscles can’t replace the dead cells with new ones, and connective and adipose (fat) tissue gradually replaces muscle fibers.

Duchenne muscular dystrophy has X-linked recessive inheritance, but about 30% of cases happen spontaneously without a family history of the condition.

X-linked means the gene responsible for DMD is located on the X chromosome, one of two sex chromosomes. Males have an X and Y chromosome, and females have two X chromosomes.

Genes, like chromosomes, usually come in pairs. Recessive means that when there are two copies of the responsible gene, both copies must have a disease-causing change (pathogenic variant or mutation) for a person to have the condition. Since males only have one X chromosome, if that chromosome has the genetic variant that causes DMD, they’ll have DMD

Diagnosis

If your child is experiencing symptoms of Duchenne muscular dystrophy (DMD), your child’s healthcare provider will likely perform a physical exam, neurological exam and muscle exam. They’ll ask detailed questions about your child’s symptoms and medical history.

If your child’s provider suspects that your child may have DMD, they’ll likely order the following tests:

  • Creatine kinase blood test: Your muscles release creatine kinase when they’re damaged, so elevated levels may indicate DMD. Levels typically peak by age 2 and can be more than 10 to 20 times above the normal range.
  • Genetic blood test: A genetic blood test that looks for a complete or near-complete absence of the dystrophin gene can confirm the diagnosis of DMD.
  • Muscle biopsy: Your child’s provider may take a small sample of their muscle tissue from a muscle in their thigh or calf. A specialist will then look at the sample under a microscope to look for signs of DMD.
  • Electrocardiogram (EKG): As DMD almost always affects your heart, your child’s provider will likely perform an EKG to look for characteristic signs of DMD and to check the health of your child’s heart.

Management and Treatment

There’s no cure for Duchene muscular dystrophy (DMD), so the main goal of treatment is to manage symptoms and improve quality of life.

Supportive therapies for DMD include:

  • Corticosteroids: Corticosteroids, such as prednisolone and deflazacort, are beneficial for delaying muscle strength loss, improving lung function, delaying scoliosis, slowing the progression of cardiomyopathy (heart weakness) and prolonging survival.
  • Medication to treat cardiomyopathy: Early treatment with ACE inhibitors and/or beta-blockers may slow the progression of cardiomyopathy and prevent the onset of heart failure.
  • Physical therapy: The main goal of physical therapy for DMD is to prevent contractures (permanent tightening of your muscles, tendons and skin). This usually involves certain stretching exercises.
  • Surgery to help treat scoliosis and contractures: Surgery to release contractures may be necessary for severe cases. Surgery to correct scoliosis may improve lung and breathing function.
  • Exercise: Your child’s healthcare provider will likely recommend gentle exercise to avoid muscle atrophy due to a lack of use. This is usually a combination of swimming pool and recreation-based exercises.

Other supportive therapies for DMD include:

  • Mobility aids, such as braces, canes and wheelchairs.
  • Tracheostomy and assisted ventilation for respiratory failure.

With improvement in supportive care over the years, the life expectancy of DMD has significantly improved over the past few decades. so, If you’re concerned about the risk of passing on DMD or other genetic conditions before trying to have a biological child, talk to your healthcare provider about genetic counseling. In some situations, prenatal testing may be able to diagnose DMD in early pregnancy.

Conclusion:

Finally if your loved ones are planning for parenthood in late 30s we would suggest you genetic counselling , also you can connect us via email : query@gtsmeditour.com or whatsapp us +91 9880149003 and get complete health check package from our hospitals in India . early diagnosis and treatment can save life and bring quality of life to the patient.

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Hypochondriasis – An illness anxiety disorder

May 16, 2025 Posted by admin General Health, Mental health 0 comments

Overview

Illness anxiety disorder, sometimes called hypochondriasis or health anxiety, is worrying excessively that you are or may become seriously ill. You may have no physical symptoms. Or you may believe that normal body sensations or minor symptoms are signs of severe illness, even though a thorough medical exam doesn’t reveal a serious medical condition. Even after medical tests show no problems, people with hypochondriasis have trouble focusing on anything other than worrying about being very sick. Their persistent health worries can interfere with their relationships, careers and lives. You may be more familiar with the term hypochondria or health anxiety. Healthcare providers now use the term illness anxiety disorder.

Illness anxiety disorder (hypochondria) is extremely rare. It typically appears during early adulthood. Illness anxiety disorder is a chronic (ongoing) condition. You may go through periods where you have little or no health anxiety — and then it returns. You can take steps to keep illness anxiety disorder symptoms in check.

Symptoms

Symptoms of hypochondria include:

  • Avoiding people or places due to worry about catching an illness.
  • Constantly researching diseases and symptoms.
  • Exaggerating symptoms and their severity (for instance, a cough becomes a sign of lung cancer).
  • High level of anxiety about personal health.
  • Obsession with usual body functions, like your heart rate.
  • Oversharing your symptoms and health status with others.
  • Repeatedly checking for signs of illness, like taking your blood pressure or temperature.
  • Seeking reassurance from loved ones about your symptoms or health.
  • Uneasiness with healthy body functions, like gas or sweating.

Causes

The exact cause of illness anxiety disorder isn’t clear, but these factors may play a role:

  • Beliefs. You may have a difficult time tolerating uncertainty over uncomfortable or unusual body sensations. This could lead you to misinterpret that all body sensations are serious, so you search for evidence to confirm that you have a serious disease.
  • Family. You may be more likely to have health anxiety if you had parents who worried too much about their own health or your health.
  • Past experience. You may have had experience with serious illness in childhood, so physical sensations may be frightening to you.

Diagnosis

To determine a diagnosis, you’ll likely have a physical exam and any tests your primary care provider recommends. Your provider can help determine if you have any medical conditions that require treatment and set limits on lab testing, imaging and referrals to specialists.

Your primary care provider may also refer you to a mental health professional. He or she may:

  • Conduct a psychological evaluation to talk about your symptoms, stressful situations, family history, fears or concerns, and ways that your anxiety is negatively affecting your life
  • Have you fill out a psychological self-assessment or questionnaire
  • Ask you about alcohol, drug or other substance use
  • Determine whether your illness preoccupation is better explained by another mental disorder, such as somatic symptom disorder or generalized anxiety disorder.

Treatment

The goal of treatment is to help you manage anxiety about your health and improve your ability to function in daily life. Psychotherapy — also called talk therapy — can be helpful for illness anxiety disorder. Sometimes medications may be added.

Psychotherapy

Because physical sensations can be related to emotional distress and health anxiety, psychotherapy — particularly cognitive behavioral therapy (CBT) — can be an effective treatment. CBT helps you learn skills to manage illness anxiety disorder and find different ways to manage your worries other than excessive medical testing or avoidance of medical care.

CBT can help you:

  • Identify your fears and beliefs about having a serious medical disease
  • Learn alternate ways to view your body sensations by working to change unhelpful thoughts
  • Become more aware of how your worries affect you and your behavior
  • Change the way you respond to your body sensations and symptoms
  • Learn skills to cope with and tolerate anxiety and stress
  • Reduce avoidance of situations and activities due to physical sensations
  • Reduce behaviors of frequently checking your body for signs of illness and repeatedly seeking reassurance
  • Improve daily functioning at home, at work, in relationships and in social situations
  • Address other mental health disorders, such as depression

Other therapies such as behavioral stress management and exposure therapy also may be helpful.

Medications

Antidepressants, such as selective serotonin reuptake inhibitors (SSRIs), may help treat illness anxiety disorder. Medications to treat mood or anxiety disorders, if present, also may help.

Prevention

Unfortunately, there’s no known prevention against illness anxiety disorder. But getting support from medical and mental health professionals and loved ones (family, friends, etc.) may help reduce the severity of your symptoms and help you cope with the disorder.

Conclusion

If you come across your closed ones  or near ones with any such kind of disease  you can send us the latest reports via, email  – query@gtsmeditour.com or whatapp same on +91 9880149003 and get the best medical second opinion from our doctors and decided the further plan of action. we can support you the best way possible .

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Paranoid schizophrenia

Apr 29, 2025 Posted by admin Mental health, Neurology 0 comments

Overview

Schizophrenia is a mental disorder characterized by disruptions in thought processes, perceptions, emotional responsiveness, and social interactions. Although the course of schizophrenia varies among individuals, schizophrenia is typically persistent and can be both severe and disabling. The term “paranoid schizophrenia” is an outdated name for a subtype of schizophrenia. Experts no longer use or recognize this term. Instead, experts recognize schizophrenia as a specific disease, which is part of a spectrum of related conditions that involve psychosis. Schizophrenia usually happens at different ages depending on biological sex, but it doesn’t happen at different rates. It usually starts between ages 15 and 25 for males and between 25 and 35 for females. Schizophrenia in children is rare but possible, and these cases are usually much more severe. Experts estimate about 85 people out of every 10,000 will develop this condition at some point in their lifetime. Getting the proper treatment early is the best way to improve your chances of managing the illness. Some people can recover from schizophrenia entirely and never have it return. You may need to stay on medication for a long time, possibly even for life. People with schizophrenia also have a higher risk of dying by suicide, which means treatment can be life-saving, not just helpful.

Symptoms

The key symptoms of schizophrenia are:

  • Delusions.
  • Hallucinations.
  • Disorganized or incoherent speech.
  • Disorganized or unusual behavior.
  • Negative symptoms.

Delusions and hallucinations are the two symptoms that can involve paranoia.

  • Delusions. These are persistent false beliefs. A person who has a delusional belief usually won’t change their mind even if faced with strong evidence. Delusions involving paranoia are often “persecutory,” which means a person believes that someone is trying to harm them or negatively affect their life.
  • Hallucinations. These are events a person imagines (usually in the form of something that a person hears or sees). A person who has a hallucination typically can’t tell that what they’re experiencing isn’t real. These commonly feed into delusions by giving the person additional “evidence” to confirm that someone is trying to harm or upset them.

Causes

The three main reasons that schizophrenia happens include:

  • Chemical imbalances in your brain. The chemicals involved are those that your brain uses to communicate between brain cells.
  • Congenital brain problems. These are problems that affect your brain’s development before you’re born.
  • Communication disruptions between areas of the brain. Your brain relies on intricate networks of connections between its various areas. Experts suspect that schizophrenia happens because those connections deteriorate.

Experts believe several risk factors contribute to developing schizophrenia. Those risk factors include genetic mutations you inherit from one or both parents, exposure to certain chemicals or substances, complications during pregnancy and recreational drug use. However, experts have yet to uncover any confirmed triggers or causes for this condition.

Diagnosis and Tests

Usually a mental health specialist like a psychiatrist, diagnoses schizophrenia using a combination of tools and techniques. Some of the techniques involve analyzing your medical and personal history, asking you questions about your experiences and symptoms, and observing your behavior and actions.

Combining those methods is necessary because diagnosing schizophrenia requires the following:

  • At least two of the five main symptoms.
  • Main symptoms that have lasted at least one month, and overall effects that have lasted at least six months.
  • Disruption in your social or work life.

The possible tests include:

  • Imaging tests. These can include computerized tomography (CT) scans, magnetic resonance imaging (MRI) scans and other imaging tests.
  • Blood, urine and cerebrospinal fluid (spinal tap) tests. These tests look for chemical changes in bodily fluids, as well as heavy metal poisoning, infections and more.
  • Brain activity testing. An electroencephalogram (EEG) analyzes and records the electrical activity in your brain, which can rule out seizures or epilepsy.

Management and Treatment

Schizophrenia is almost always treatable, but it isn’t curable. Some people can recover from schizophrenia entirely and never have it return. However, experts consider people in that situation “in remission” because there’s no way to predict if it will or won’t return. Schizophrenia treatment will center on managing your symptoms. You may need to stay on medication for a long time, possibly even for life. Psychotherapy, a kind of talk therapy, will likely also be a big part of the plan to help you understand and manage your symptoms.

Many types of professionals can help you manage schizophrenia. Each is an expert in something different and is able to support you in different ways. When everyone works together, you can get well-rounded care.

Your care team might include:

  • Social workers
  • Community mental health nurses
  • Occupational therapists
  • Counselors, psychotherapists, or therapists
  • Psychiatrists or psychologists
  • Pharmacists
Schizophrenia is a lifelong, incurable condition. Some people may have only one episode of schizophrenia in their lifetime. However, healthcare providers consider these cases “in remission” instead of cured or resolved because the symptoms can return unpredictably.

Taking care of yourself and managing schizophrenia is possible, especially when people with this condition build a strong, trusting relationship with a healthcare provider and their loved ones. Some of the most important things you can do to take care of yourself include:

  • Take your medication as prescribed (and don’t stop taking it without first talking to your provider).
  • See your provider as recommended (these visits can help with adjusting medication or treatment plans to help you best).
  • Don’t ignore or avoid your symptoms.
  • Avoid alcohol and recreational drug use (these can worsen your symptoms or cause other problems).
  • Consider seeking support.
  • Build relationships with people you trust — especially loved ones and your healthcare provider — and don’t isolate yourself from them.

Conclusion

If you come across any of your known friend, neighbour or loved one suffering from any disease unaffordable or untreatable at your country please feel free to contact us via email query@gtsmeditour.com or you can whatsapp us  on +91 9880149003 and get second medical opinion from our professional healthcare providers abroad. further we shall assist in getting the appropriate treatment.

Happy to assist…

 

Hirschsprung’s disease

Apr 24, 2025 Posted by admin Gastroenterology 0 comments

Overview

Hirschsprung’s disease is a condition that affects the large intestine (colon) and causes problems with passing stool this disease is also known as congenital megacolon. This condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby’s colon. Without these nerve cells stimulating gut muscles to help move contents through the colon, the contents can back up and cause blockages in the bowel. If the baby has Hirschsprung’s disease, poop moves through their intestines until it reaches the section that’s missing nerve cells. Once the poop reaches that point, it moves slowly or stops (constipation). There’s no cure for Hirschsprung’s disease, but surgical treatment often results in a positive outcome. There are two types of surgeries to treat Hirschsprung’s disease: a pull-through procedure and an ostomy. Without treatment, Hirschsprung’s disease can cause serious complications. If everything goes well, your baby will feel much better a few days after surgery. No one can prevent Hirschsprung’s disease. If you have the disease or a family history of it, you may want to meet with genetic counselors before starting a family.

Symptoms

Some babies with Hirschsprung’s disease have blocked intestines at birth. There’s a chance your baby has Hirschsprung’s disease if they don’t poop within 48 hours after birth.

Other symptoms of Hirschsprung’s disease in babies may include:

  • Swollen belly.
  • Constipation.
  • Vomiting.
  • Diarrhea.
  • Lack of appetite (refusing to eat) and poor weight gain.
  • Delayed growth.

Causes

It’s not clear what causes Hirschsprung’s disease. It sometimes occurs in families and might, in some cases, be associated with a genetic mutation. During fetal development, neural crest cells typically grow from the top of the small intestine through the large intestine to the anus. In children with Hirschsprung disease, these nerve cells stop growing in the large intestine before reaching the anus.

Diagnosis and Tests

The physician  will check the baby belly to see if it’s swollen and painful. Then they’ll check your baby’s rectum for backed-up poop, also perform one or more of these tests:

  • X-ray: Abdominal X-rays can show a blockage in your baby’s intestine.
  • Contrast enema: A healthcare provider inserts a catheter (a thin tube) through your baby’s rectum. The catheter fills their intestine with contrast, a safe liquid. A technician takes X-rays as the contrast travels through your baby’s intestine. This exam shows if there are any blockages or narrowing in your child’s intestines.
  • Biopsy: Your baby’s healthcare provider uses a special device to remove a small amount of tissue (biopsy) from your baby’s rectum. A pathologist then looks at the tissue under a microscope to check for nerve cells. This procedure isn’t painful and doesn’t require anesthesia.

Treatment

There are two types of surgeries to treat Hirschsprung’s disease: a pull-through procedure and an ostomy.

Pull-through procedure

A surgeon removes the section of your baby’s large intestine that’s missing nerve cells. Then they connect the healthy part of your baby’s large intestine to their anus. The surgeon may use laparoscopic or traditional surgery to perform the pull-through procedure.

The pull-through procedure is the most common surgery for Hirschsprung’s disease and has the best outcome for recovery.

Ostomy surgery

Your baby may need a colostomy (large intestine) or ileostomy (small intestine) before, or at the same time as, a pull-through procedure.

During ostomy surgery, surgeons connect the large or small intestine to the skin outside your baby’s belly. Ostomy surgery allows poop to leave your baby’s body through an opening (stoma) outside of your baby’s anus, usually around their belly. The poop goes into an ostomy bag attached to your baby’s body.

Additional treatments

Some nonsurgical treatments work well in addition to surgery. They include:

  • Bowel management: A routine involving medicines and/or enemas to make sure your child’s pooping habits are healthy.
  • Sacral nerve stimulation: A surgeon inserts a tiny device near your lower spine to control when you pee and poop.
  • Biofeedback: Therapy that involves learning strategies to have more control over involuntary bodily functions — in this case, pooping.

After surgery, some babies with Hirschsprung’s disease may still have constipation, pooping accidents and colon infections. But with long-term follow-up care, most children can manage pooping without becoming severely constipated or developing fecal incontinence.

Conclusion

If you come across any of your known friend, neighbour or loved one suffering from any disease unaffordable or untreatable at your country please feel free to contact us via email query@gtsmeditour.com or you can whatsapp us  on +91 9880149003 and get second medical opinion from our professional healthcare providers abroad. further we shall assist in getting the appropriate treatment.

Happy to assist…

 

Hemifacial microsomia

Apr 23, 2025 Posted by admin Paediatrics, Plastic surgery 0 comments

Overview

Hemifacial microsomia is the second most common facial birth defect behind cleft lip and palate, affecting one in every 3,500 to 4,000 births. Hemifacial microsomia is a congenital condition in which the tissues on one side of the face are underdeveloped. It primarily affects the ear, mouth, and jaw areas, though it may also involve the eye, cheek, neck, and other parts of the skull, as well as nerves and soft tissue. In 10 to 15 percent of cases, both sides of the face are affected, oftentimes asymmetrically.

Children with hemifacial microsomia need ongoing medical care, including multiple surgeries. But once they reach early adulthood, they likely won’t need any more procedures. Long-term follow-up may be necessary to check for issues that come back or worsen over time. Hearing aids and implants may need adjusting.

Physical challenges and the psychological effects of looking different can impact your child’s emotional health. Seeking support through counseling is essential in helping your child develop coping strategies.

Causes

Symptoms can range from mild to severe and usually involve the underdevelopment of one or more facial features. Hemifacial microsomia affects everyone differently, and the degree of involvement can vary. One of the ways clinicians describe and assess the severity of hemifacial microsomia is the OMENS classification. The OMENS classification examines the function and appearance of each of the following, looking for characteristics commonly associated with hemifacial microsomia:

  • Orbit (eye socket): small and underdeveloped eyes with impaired vision; absent or unformed eye; growths on the eye; one eye appearing smaller than the other, but with normal vision
  • Mandible (the jaw bones): underdeveloped upper and lower jaw on one side; crooked jaw; missing, misaligned or overcrowded teeth; cleft lip and/or cleft palate; limited opening or closing of the mouth
  • Ear: small skin tags; misshapen or missing external ear; absent or abnormal development of the ear canal resulting in partial or total hearing loss
  • Nerves: ranging from mild weakness to partial or full facial paralysis
  • Soft tissues (skin, muscle, fat, tendons and ligaments): flattened forehead or cheekbone, unequal cheek fullness, asymmetrical mouth with lateral cleft

Most children with hemifacial microsomia have facial anomalies but no other major medical issues. In some cases, babies born with hemifacial microsomia may also have other health problems such as malformed vertebrae, heart defects or abnormally shaped kidneys.

Diagnosis and Tests

Healthcare providers typically start with a physical exam. They usually diagnose the condition shortly after birth. In some cases, they might detect it before birth using prenatal ultrasound or MRI (magnetic resonance imaging).

Your healthcare provider may need to run additional imaging tests to diagnose hemifacial microsomia, like:

  • X-rays
  • CT scans (computed tomography scans)

Management and Treatment

Treatment for this condition depends on the severity of involvement. Children with hemifacial microsomia usually need surgery to repair or reconstruct their facial features. The type and timing of these procedures depend on your child’s needs. In infancy, the focus of treatment is to make sure your baby is breathing and feeding well. In childhood and adolescence, the goal of treatment is to improve the function and appearance of the face. It’s often necessary to delay procedures or do them in multiple stages as your child grows.

Surgical treatments

Surgical treatments for hemifacial microsomia include:

  • Ear, nose and throat surgery
  • Facial plastic surgery
  • Eye surgery
  • Maxillofacial surgery
  • Oral surgery
  • Plastic surgery

Neonatal surgery

If your newborn has breathing difficulties or is unable to nurse, your healthcare provider may treat your baby’s hemifacial microsomia immediately after birth. The most common procedures done after delivery include:

  • Tracheostomy, an incision in your baby’s neck and windpipe to aid breathing
  • Tube feeding, which gives your baby nutrition if they’re unable to nurse

Nonsurgical treatments

In addition to surgical treatments, your healthcare provider may recommend these nonsurgical therapies:

  • Braces and other teeth-straightening devices
  • Hearing aids for mild hearing loss
  • Speech therapy to address challenges with swallowing and speaking

During follow-up visits, diagnostic testing may be done. The goal of continued monitoring is to help spot any irregularities in growth or development and to address health issues as they develop, optimizing long-term outcomes for your child.

Conclusion

Hope this article finds you with informative knowledge needed, further if you come across any of your family members friends  or your loved ones with anysuch kind of disease you can guide them to us or share their latest reports via email – query@gtsmeditour.com and get the  second best opinion from our experienced doctors and treatment plan for the same.

Thank you..!

 

 

lower lip hemangioma

Apr 13, 2025 Posted by admin Plastic surgery 0 comments

Overview

Hemangiomas are benign vascular tumors commonly occurring in infancy and childhood, affecting females more than males.  few may be present from birth or even develop in adults. Clinically, hemangioma presents as smooth or lobulated soft tissue mass, measuring few millimeters, which is hardly noticeable, to several centimeters causing physical disfigurement and functional disturbance. Sixty percent of the lesions occur in head and neck region with lip, tongue, and palate being the most preferred site. Detailed study of hemangioma and its growth pattern needs to be performed to hopefully yield targeted therapeutics to treat and reduce the unnecessary social embarrassment to the patient.

Most hemangiomas go through phases of growth, then go away on their own.

  • Phase 1 (first 2 to 3 months) – Appear during the first weeks of life and grow fast.
  • Phase 2 (next 3 to 4 months) – The growth slows down.
  • Phase 3 – No change.
  • Phase 4 (next 1 to 10 years) – At around 1 year of age, the hemangioma starts shrinking and fading in color slowly. Many go away during this time.
    • By age 5, most hemangiomas are flat and lighter in color.
    • By age 10, many are gone or very hard to see.

Some hemangiomas leave behind soft, wrinkly skin in areas that were stretched out by the growth. Others leave behind the look of surface blood vessels. If there are skin changes, your child may have a procedure when they’re older to correct the changes.

Diagnosis

The health care provider can usually look at their skin to see a hemangioma. If they can’t tell, your child may need an imaging test, like an ultrasound scan.

Types of Hemangiomas

Hemangiomas may happen anywhere on the body. Picture 1 shows the 3 main types:

Superficial (on the surface of the skin) – Look flat at first, then become bright red with a raised, uneven surface.

Deep (under the skin) – Appear as a bluish-purple swelling with a smooth surface.

Combined – Have both superficial and deep components.

the 3 types of hemangiomas on a baby's face

Treatment

If your child’s hemangioma needs to be treated, their doctor or health care provider will talk to you about options. Treatment depends on the size, location, and if it’s causing any problems for your child. Treatments may include:

  • Topical medicine (cream or lotion that is rubbed on the hemangioma):
    • Topical beta blockers may help lighten the hemangioma and slow its growth. This works best on small, superficial hemangiomas.
    • Topical antibiotics are used for open sores with concern for infection.
  • Oral medicine (taken by mouth) – Your child will be watched closely for side effects. They may need to have an exam before starting these medicines.
    • Propranolol is the first oral treatment option.
    • Prednisone may be used if propranolol doesn’t work or can’t be used on your child’s hemangioma.
  • Surgery – Your child may need surgery to remove the hemangioma. This is rare. It may be done when the hemangioma has stopped growing or other treatments have failed. Your child may also have surgery to remove markings left over from hemangiomas.
  • Laser – This may lighten the look of blood vessels left over from hemangiomas.

Conclusion

Hope this article finds you with informative knowledge needed, further if you come across any of your family members friends  or your loved ones with anysuch kind of disease you can guide them to us or share their latest reports via email – query@gtsmeditour.com and get the  second best opinion from our experienced doctors and treatment plan for the same.

Thank you..!

 

Dehydration and Oral Rehydration Solution(ORS)

Mar 22, 2025 Posted by admin General Health 0 comments

Overview

when your body loses more fluid than you consume primarily due to diarrhea, vomiting, excessive of sweat and urine you become to happen dehydrated and so is called dehydration. In order to combat dehydration ORS is given as a primary solution for mild to moderate condition of dehydration However, a person may need intravenous (IV) fluids if they become dangerously dehydrated. ORS – Oral Rehydration Salts is made of water, glucose, sodium, and potassium. The combination optimizes fluid absorption in the body, which then helps quickly replenish fluids and makes you feel better and recover fast. One can buy ORS over the counter or get a prescription.

 What is ORS?

Oral rehydration solution (ORS) is made of water, sugar, and electrolytes, specifically potassium and sodium. ORS helps in replenishing the body’s fluid levels. It’s generally used to treat moderate dehydration due to diarrhea, vomiting, or other conditions.

Causes of dehydration

It’s normal to lose water from the body every day through sweat, urine, stools and saliva. Usually, we replenish it by drinking fluids and eating water-rich foods. If someone loses too much water or doesn’t replace it, they can get dehydrated.

Following are other reasons you may lose more water than usual:

  • Diarrhea
  • A fever
  • Vomiting
  • Excessive sweating
  • Too much urination

Symptoms of dehydration

Signs of mild or moderate dehydration include:

  • Thirst
  • Less urination
  • Headache
  • Dry or sticky mouth
  • Muscle cramps
  • Dry, cool skin
  • Dark yellow urine

Signs of severe dehydration include:

  • Dehydrated skin
  • Rapid breathing
  • Rapid heartbeat
  • Sunken eyes
  • Not urinating or observing very dark yellow urine
  • Fainting
  • Feeling dizzy
  • Sleepiness, lack of energy, confusion, or irritability

Symptoms for young children and babies can be different than for adults. The symptoms include:

  • No tears when crying
  • Sleepiness, lack of energy, or irritability
  • Dry diapers for 3 hours
  • Dry mouth and tongue
  • Sunken eyes, cheeks, and soft spot on the top of the head

Treatment and Dosage recommendations

You can treat mild dehydration with fluids such as water and clear broth.

But in the case of moderate dehydration, an ORS is considered ideal. In addition to containing water, ORS also contains specific amounts of glucose and electrolytes. The electrolytes are potassium and sodium.

These components help in maximizing fluid absorption in the gastrointestinal tract. The gastrointestinal tract relies on sodium-glucose cotransporters (SGLTs), which are carriers of proteins in the intestinal cells of the body. Cotransporters help move substances across membranes in the body.

Specifically, SGLTs combine sodium and glucose transport in the small intestine. It then allows glucose to increase the absorption of fluids in the body. Additionally, sodium needs glucose to be adequately absorbed. Therefore, ORS contains both glucose and sodium.

Since 1975, the World Health Organization and UNICEF have used ORS to treat dehydration due to diarrhea. It’s commonly used in countries with limited access to clean water or other hydration options.

The success rate of oral rehydration therapy is high. According to 2018 researchTrusted Source, oral rehydration therapy has prevented 54 million deaths due to diarrhea since 2007. Since 1980, the therapy has also reduced diarrhea-related deaths in children by two-thirds.

Dosage

Compared to adults, children are more likely to experience dehydration due to diarrhea. They have a higher metabolic rate, meaning their bodies quickly use water. Children might unable to recognize thirst or hydrate themselves.

The correct dosage for children under the age of 2 is at least half a large glass of ORS after each watery stool and for children above the age of 2 is at least one large glass of ORS after each watery stool.

The appropriate amount of ORS depends on your age.

This is because your age determines how much fluid your body needs to function. Younger children are naturally smaller, so they need less. Adults will need more because they have larger bodies.

Here are the recommended doses by weight or age, according to the Nationwide Children’s Hospital:

Weight or age Dosage
7–10 pounds at least 2 ounces (4 tablespoons or 1/4 cup) per hour
11–15 pounds at least 2 1/2 ounces (5 tablespoons) per hour
16–20 pounds at least 3 1/2 ounces (1/2 cup) per hour
21–40 pounds at least 6 1/2 ounces (3/4 cup) per hour
41–60 pounds at least 10 ounces (1 1/4 cups) per hour
10 years or older up to 68 ounces (8 1/2 cups) per day

Potential risks and side effects of oral rehydration therapy

Oral rehydration therapy is designed to normalize electrolyte levels. However, if the solution isn’t prepared or used correctly, it can cause salt toxicity. This is also known as hypernatremia.

Possible side effects include:

  • nausea
  • vomiting
  • weakness
  • loss of appetite
  • confusion
  • severe thirst
  • kidney damage

Who should avoid oral hydration solutions

You should use oral rehydration solutions with caution if you:

  • have a kidney disorder
  • have diabetes
  • have heart failure
  • are taking heart disease or blood pressure medications

A doctor can determine if oral rehydration therapy is safe for you.

ORS preparation

It’s not recommended to treat dehydration with homemade ORS. Over-the-counter or prescription ORS is the safer choice.

Typically, ORS is available as powders in packets. The powders are designed to be dissolved in water.

The general steps for preparing an ORS are as follows:

  1. Wash your hands with soap and clean water.
  2. Next, wash a container and utensil with soap and clean water.
  3. Pour one liter of clean water into the container.
  4. Add the ORS powder to the water, then mix with the utensil.

Precautions to Consider

While ORS is generally safe and well-tolerated, certain precautions should be observed:

Underlying Health Conditions: Individuals with pre-existing kidney disorders, heart conditions, or electrolyte imbalances should consult a healthcare professional before using ORS.

Allergies: Those with known allergies to any of the ingredients in ORS should avoid its use and seek alternative hydration solutions.

Proper Dilution: Ensure proper dilution of ORS according to the instructions provided to avoid adverse effects due to excessive electrolyte intake.

Monitoring: In cases of severe dehydration or persistent symptoms, medical attention should be sought promptly to prevent complications.

Conclusion

An oral rehydration solution treats moderate dehydration. It’s made of water, glucose, sodium, and potassium. The combination optimizes fluid absorption in the body, which then helps quickly replenish fluids. The solution is often used to treat dehydration caused due to diarrhea or vomiting. One can buy it over the counter or get a prescription. If a person has had a lot of diarrhea or vomiting, they should speak with a doctor. They can determine if the person needs an oral rehydration solution or if they need intravenous fluids.

last but not the least if you come across any of your known friend, neighbour or loved one suffering from any disease unaffordable or untreatable at your country please feel free to contact us via email query@gtsmeditour.com or you can whatsapp us  on +91 9880149003 and get second medical opinion from our professional healthcare providers abroad. further we shall assist in getting the appropriate treatment.

Herpetic Whitlow

Mar 21, 2025 Posted by admin Dermatology 0 comments

Overview

A herpetic whitlow is a herpes lesion, typically on a finger or thumb, Although the presence of a blister is a common sign of this condition, your fingers may become red or swollen before a blister forms. caused by the herpes simplex virus. Occasionally infection occurs on the toes or on the nail cuticle. Herpes whitlow can be caused by infection by HSV-1 or HSV-2.Symptoms of herpetic whitlow can appear 1 to 2 weeks after exposure to the virus. You may develop one blister or a cluster of blisters. It can take up to 3 weeks for the blisters to heal. Eventually, the blister — or group of blisters — ruptures. This forms a shallow ulcer with a crust-like scab. You may experience a burning or tingling pain that’s worse than what you would expect from the blisters. Herpetic whitlow can also produce a fever and swollen lymph nodes. It’s possible to get recurrent outbreaks after an initial outbreak, but this is rare. Herpetic whitlow doesn’t require treatment.The condition usually heals within a few weeks without medication, but a prescription antiviral drug can shorten the duration of an outbreak. However, recurrent outbreaks of herpetic whitlow are usually less severe and heal faster because the body has developed antibodies to take measures against the virus.

Symptoms

Signs and symptoms of herpetic whitlow include:

  • Blisters or fluid-filled bumps on the skin near your fingernail.
  • Colour changes to the skin around your nail, usually darker than your normal skin tone, or red to purple.
  • Swollen finger.

Causes

The herpes simplex virus (type 1 or type 2) causes herpetic whitlow. You usually acquire it from contact with another person who has the virus, especially after contact with a cold sore or “fever” blister. The virus usually penetrates your skin if you have a cut.

Diagnosis and Tests

Your healthcare provider will diagnose herpetic whitlow based on the appearance of the signs and symptoms localized on your finger. The condition has a unique look on your skin. To confirm the diagnosis, your provider will provide a PCR test or a culture test.

Management and Treatment

Herpetic whitlow typically lasts about two weeks, sometimes longer if left untreated. Herpetic whitlow deserves good wound care. Use compresses and protection with bandages to prevent secondary infection. Covering your blisters also prevents the spread of the virus to others Treatment for herpetic whitlow focuses on the infection. It could include compresses two to three times per day, coupled with an oral or topical antiviral medication. An over-the-counter pain reliever (analgesic) treats pain.

Prevention

Prevention may be difficult, but the following measures can help:

  • Frequent hand washing with soap and water.
  • Wearing gloves in a healthcare setting, especially with close contact with people’s mouths.
  • Stopping your child from sucking their fingers, especially their thumb.

Conclusion

Herpetic whitlow is a temporary, painful condition that typically resolves in two to three weeks. Antiviral treatment may be necessary to help the condition go away faster. further to conclude if you come across your loved ones with anykind of major disease where treatment is unaffordable you can guide them to us and let them share the patient latest reports via, email – query@gtsmeditour.com or whatsapp the reports on +91 9880149003 and get the second medical opinion and treatment plan for better decision making and planning for the same.

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Kaposiform hemangioendothelioma (KHE)

Mar 10, 2025 Posted by admin Oncology 0 comments

Overview

Kaposiform hemangioendothelioma (KHE) may look like a birthmark, but is actually a rare benign tumor caused by the abnormal growth of blood vessels, diagnosed in infancy or early childhood   It can appear anywhere on the body, often on the head and neck but also on the stomach, back, arms, and legs — even inside the chest, abdomen, or bones. Although KHE can grow, it doesn’t spread to other locations in a child’s body. A mild form of KHE, called tufted angioma, is less likely to cause complications or require treatment. Researchers are still searching for the cause of KHE. It is not inherited, and while it typically occurs in infancy,  Magnetic resonance imaging (MRI) is generally first-line assessment because the deep infiltrating nature of KHE may not be apparent on physical exam or on ultrasound. MRI with and without gadolinium has the most value in the diagnosis of KHE as well as for clearly determining the extent of involvement and response to treatment. Some mild KHE tumors go away without treatment. For those that do not, doctors have multiple treatment options available to them, depending on the size, location, and behavior of the tumor. The goals of treatment are to relieve symptoms, shrink the tumor, and reverse Kasabach-Merritt, if it is present. Further clinical studies are also needed to refine the guidelines for the standard use of therapies and follow-up in patients with KHE.

Symptoms

The exact symptoms of KHE depend on where the lesion appears. The most common symptom of KHE is a growing lesion on the skin. This lesion:

  • Is usually a deep reddish-purple and has poorly defined edges
  • Is firm and warm to the touch
  • Often has shiny and tense skin
  • May be accompanied by a bruise-like discoloration nearby, or tiny red or purple spots (petechiae) anywhere on the body
  • Sometimes swells and becomes painful, or causes pain with movement or reduced range of motion

The exact symptoms of KHE depend on where the lesion appears. About 10 percent of children with KHE have no skin lesion, and some lesions penetrate deeper than the skin into other tissues.

Most children have few complications and may not need medical therapy. Some patients with KHE, however, develop what is called Kasabach-Merritt phenomenon (KMP), in which their tumor traps platelets and keeps them from circulating through the bloodstream. Because platelets help prevent bleeding, patients with KMP have a higher risk of bleeding.

KMP may develop in patients whose tumors are larger, invade into deeper tissues, or if there are sites of infection or inflammation nearby. Some children who develop KMP also lack other blood proteins that help control bleeding, such as fibrinogen.

Causes

Causes for Kaposiform hemangioendothelioma (KHE) is unknown, Researchers are still searching for the cause of KHE. It is not inherited, and while it typically occurs in infancy, KHE can arise prenatally or in adults after trauma.

Diagnosis

The first step in treating your child is forming an accurate and complete diagnosis. An experienced vascular anomalies specialist can help tell the difference between KHE and other vascular anomalies.

Most often, KHE is diagnosed through a complete medical history, a thorough physical exam and one or more of the following tests:

  • Complete blood count
  • Magnetic resonance imaging (MRI)
  • Ultrasound
  • Biopsy

Treatment

Some mild KHE tumors go away without treatment. For those that do not, doctors have multiple treatment options available to them, depending on the size, location, and behavior of the tumor. The goals of treatment are to relieve symptoms, shrink the tumor, and reverse Kasabach-Merritt, if it is present.

Treatment options include:

  • Watchful waiting: For superficial tumors without low platelets, your child’s doctor may want to observe the tumor for a few months before determining the most appropriate treatment.
  • Oral or topical steroids: In mild cases, oral or topical steroids may help other treatments work better and improve superficial lesions. However, only about 12 percent of KHE tumors respond to steroids.
  • Drug therapy: Considered the gold standard treatment for most tumors, medications slow the growth of the tumor and improve symptoms.
  • Surgery: Your doctor will only recommend surgery if your child’s tumor is very small or extremely aggressive and able to be completely removed.
  • Embolization: This minimally invasive procedure blocks the main artery feeding a KHE tumor to cut off the blood supply and shrink it. We do not attempt embolization in cases where several arteries feed into the tumor, which is often the case with KHE.

Medications

Medications used to treat KHE include:

  • Sirolimus: Also known as rapamycin, this oral medication suppresses the immune system and slows the growth of abnormal lymphatic vessels that form the tumor. It has been found to shrink KHE tumors and improve symptoms, including pain.
  • Vincristine: This chemotherapy drug targets all dividing cells within the body and is therefore used to treat many cancers. While KHE is not a cancer, there are dividing cells in the tumor. Vincristine has been used successfully for decades to treat KHE.

Many patients have an excellent long-term outlook through successful KHE treatment. In general, you child’s prognosis depends on:

  • How quickly the diagnosis is made and appropriate medical therapy is started
  • The size, location, and extent of disease
  • The tumor’s initial response to therapy

When KHE is suspected, it’s important to see a specialist quickly to allow early discussions about treatment. Specialists can then attempt to shrink the tumor before it affects muscles or other tissues nearby. Early treatment could also help reduce long-term complications by preventing further growth.

To Conclude if you come across any of you close ones with this type of disease or any such kind you can direct the patient to us or share us the latest medical history with reports via email : query@gtsmeditour.com or whatsapp the same on +91 9880149003 and get the genuine second opinion, which help you decide further and take firm decision.

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Harlequin ichthyosis

Feb 26, 2025 Posted by admin Cosmetic Surgeries, Dermatology 0 comments

Overview

Harlequin ichthyosis is the most severe type of ichthyosis and a rare genetic skin disease that affects newborns. It causes babies to be born with hard, thick plates of skin that crack and split apart. Babies born with harlequin ichthyosis need special care in the NICU. For them, the most dangerous time is the first few weeks of life, before the thick casing they’re born with falls off.  baby might also get support from physical and occupational therapists, skin doctors (dermatologists), nutritionists, or other professionals. Improved treatment options have given babies a better chance at survival than in the past. But many still die within the first few weeks of life due to complications of the disease.

You can’t prevent harlequin ichthyosis because it’s a genetic condition. If you have a biological family history of the condition, you may want to talk to your healthcare provider about genetic testing or genetic counseling.

Symptoms

Babies with harlequin ichthyosis are typically born prematurely. When they’re born, their bodies are covered in thick, platelike scales of skin. Skin tightness causes the scales to form deep cracks (fissures). The tightness also pulls the skin around your baby’s eyes and mouth, causing their eyelids and lips to turn inside out. It also pulls on the skin of your baby’s chest and abdomen, making it difficult to breathe and eat. Other symptoms may include:

  • Flat nose.
  • Ears fused to their head.
  • Small, swollen hands and feet.
  • Abnormal hearing.
  • Frequent respiratory infections.
  • Decreased joint mobility.
  • Low body temperature.

Causes

A genetic variant (genetic mutation) in the ABCA12 gene causes harlequin ichthyosis. The ABCA12 gene gives your body instructions for making a protein that’s vital for the development of healthy skin cells. This protein has an important role in transporting fats (lipids) to the outermost layer of your skin (epidermis), producing a barrier.

If you have harlequin ichthyosis, you have abnormally small amounts of the ABCA12 protein or none at all. This disrupts the normal development of your epidermis, which leads to the severe symptoms that the condition produces.

You inherit harlequin ichthyosis in an autosomal recessive manner, which means you receive both copies of the affected gene — one from each parent. The parents are both carriers of the mutated gene but typically don’t show symptoms of the condition.

Diagnosis and Tests

The diagnosis of harlequin ichthyosis relies on a physical examination of the patient and genetic laboratory investigations.

Genetic testing for a loss of function mutation in the ABCA12 gene is the most specific diagnostic test for harlequin ichthyosis.

  • Mutations in the gene may cause impaired transport of lipids in the skin and shrunken versions of proteins responsible for skin development.
  • Less severe mutations result in a collodion membrane and congenital ichthyosiform erythroderma-like presentation.

Skin biopsy shows a very thickened stratum corneum, parakeratosis, and hypergranulosis.

Treatment

There is no cure for harlequin ichthyosis, and treatment is centred around protecting the skin and preventing infection.

After birth, the thick plate-like outer layer of skin eventually splits and peels, leaving the vulnerable inner layers of the dermis exposed. Most harlequin infants will need one-on-one nursing care for the first several weeks of life. Antibiotic treatment may also be necessary to prevent or treat infection during this time.

Softening emollients, especially those containing urea, salicylic acid or alpha hydroxy acids, are particularly effective when applied after bathing while the skin is still moist. These products work to keep the skin moisturised and pliable while preventing the cracking and fissuring that can lead to secondary bacterial infection.

Early systemic treatment with oral retinoids (eg, acitretin or isotretinoin) has also been shown to heal skin fissures, soften or resolve plate-like scales, and improve overall survival

For further any such disease treatment abroad you can connect us via email query@gtsmeditour.com or whatsapp us the patient latest reports on +91 9880149003 and get a free second medical opinion and treatment plan, further which will help you make a right decision.
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