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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

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Sleep-related hypermotor epilepsy (SHE)

Feb 26, 2025 Posted by admin Neurology 0 comments

Overview

Epilepsy is the fourth most common neurological disorder in the world. If you have epilepsy, surges of electrical activity in your brain can cause recurring seizures. coming to Sleep-related hypermotor epilepsy (SHE), formerly known as nocturnal frontal lobe epilepsy, is a form of focal epilepsy characterized by seizures which arise during sleep. The seizures are most typically characterized by complex motor behaviors. This disorder is associated with cognitive impairment in at least half of patients as well as excessive daytime sleepiness due to poor sleep quality. This disorder is sometimes misdiagnosed as a non-epileptic sleep disorder. There are many potential causes of SHE including genetic, acquired injuries and structural abnormalities. In 1981, Lugaresi and Cirignotta described a group of 5 patients with paroxysmal attacks of violent movements of the extremities and dystonic-tonic posturing. It was initially uncertain whether these events constituted seizures or something else. However, the patients had a good clinical response to the anti-seizure medication carbamazepine. Ultimately, the epileptic nature of this condition was confirmed with EEG and suggested that they were coming from the frontal lobe. The term “nocturnal frontal lobe epilepsy” was suggested as a name for this condition. Later in 2014, a consensus conference recommended that the name be changed to sleep-related hypermotor epilepsy. There were three main justifications for this change: (1) not all seizures arise from the frontal lobe; (2) seizures do not necessarily occur during the night but rather from sleep; (3) hypermotor describes the most common visible clinical manifestation of the seizures. Although there is no known cure for epilepsy, developments in treatment have made it possible for most people to achieve seizure control. The first treatment step is usually to find the right medicine or Anti-Epileptic Drug (AED). If seizures continue to happen, other treatments like devices, dietary therapies, or surgery can help control seizures.

Symptoms

Seizures in SHE are brief and usually have an abrupt onset and offset.The observable clinical manifestations may consist of rapid, hyperkinetic movements as well as tonic/dystonic posturing of the limbs.Other potential manifestations include brief arousals from sleep or wandering ambulatory behavior. Non-motor manifestations (such as sensory or emotional phenomenon) are common and retained awareness during seizures may occur. Seizures usually occur during non-REM sleep. The frequency of seizures can be very high and as many as dozens may occur every night which results in poor sleep quality. In addition, many patients with SHE suffer from cognitive impairment and have behavioral/psychological problems. There are many risks associated with nocturnal seizures including concussion, suffocation and sudden unexpected death (SUDEP).

Causes

Approximately 86% of SHE cases are sporadic, 14% of patients have a family history of epilepsy and 5% are inherited in an autosomal dominant manner (i.e. autosomal dominant sleep-related hypermotor epilepsy). Both genetic, structural and multifactorial etiologies can occur. In structural cases, the most common pathology is focal cortical dysplasia.[10]

The first described mutation in SHE was found in genes coding for the neuronal nicotinic acetylcholine receptor.Since then multiple other genes have been identified including KCNT1, DEPDC5, NPRL2, NPRL3, PRIMA1, CABP4, CRH and others. In some cases, structural and genetic etiologies can coexist such as with mutations in DEPDC5.

Diagnosis

Criteria for diagnostic certainty of SHE were developed based on consensus expert opinions and studies of Class III level.

•Diagnosis of SHE is primarily based on clinical history. The absence of clear interictal and ictal EEG correlates, both during wakefulness and sleep, does not exclude the diagnosis of SHE.13
•Certainty of diagnosis can be categorized into 3 levels: witnessed (possible) SHE, video-documented (clinical) SHE, and video-EEG-documented (confirmed) SHE.

Witnessed (possible) SHE.

The main prerequisite to suspect the diagnosis of SHE is the presence of seizures consisting of obvious and disruptive hypermotor events, as described above. The semiologic aspects of such events, as provided by an eyewitness, are generally concordant with those documented by video analysis.16 Hence, data from a good clinical history are sufficient to make the diagnosis of witnessed (possible) SHE.

Video-documented (clinical) SHE.

Clinically diagnosed SHE requires audio-video documentation of hypermotor events. In such a video recording, at least 1 event but preferably 2 entire events should be documented (confirmed to be typical by witness), including the onset and with clear visualization of the entire events, showing the evolution and offset of the attacks. If the captured episodes are minor motor events or paroxysmal arousals, and if few episodes are captured, the clinical diagnosis may be unreliable.16,38,39

Video-EEG-documented (confirmed) SHE.

A confirmed diagnosis of SHE requires video-EEG documentation of the events during a daytime sleep recording after sleep deprivation, or during a full night sleep recording, with at least 19 EEG channels (10–20 International System), ECG, oculogram, and chin EMG. SHE is confirmed when hypermotor seizures are recorded during sleep, associated with a clear-cut epileptic discharge or with interictal epileptiform abnormalities.

ETIOLOGY/GENETICS

Statements about etiology were formulated based on core literature consisting of clinical studies of Class III level and Class IV level or genetic molecular studies of Class 1 level, Class 2 level, or Class 3 level.

•In a majority of patients, the etiology is unknown.
•Identified etiologies are heterogeneous and include structural anomalies such as focal cortical dysplasia, acquired injuries, and genetic causes.
•No specific clinical features distinguish etiologies.5,17,19
A majority of individuals with SHE do not have a family history or other identified etiologies. In some patients with drug-resistant SHE, the etiology may involve a surgically treatable lesion, in particular type II focal cortical dysplasia.
Therefore diagnosis is based on clinical history but often EEG and/or polysomnography is required. In many patients the EEG can also be unhelpful as seizures may originate from deep in the brain. Polysomnography can be helpful distinguishing SHE from parasomnias as they often arise from different stages of sleep.

Treatment

Like other forms of epilepsy, SHE can be treated with anti-seizure medications. Adequate control of seizures occur in approximately two-thirds of patients with anti-seizure medications while approximately one-third of patients do not appropriately respond. The relative efficacy of different medications has not been systematically investigated. Historically, low-dose carbamazepine has been the preferred medication for SHE and is often considered to be first-line. Other anti-seizure medications which have been studied for the treatment of SHE and found to have efficacy include: oxcarbazepine, topiramate, lacosamide and perampanel. Epilepsy surgery can be efficacious in refractory patients. In addition, there have been reports of successfully treating SHE due to mutations in CHRNA4 with nicotine patches.

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Myasthenia Gravis

Feb 22, 2025 Posted by admin Neurology 0 comments

Overview

Myasthenia gravis is a disease-causing fluctuating weakness of muscles like that of the limbs, swallowing and eye movement muscles. Myasthenia gravis (autoimmune type) happens when your body’s immune system mistakenly attacks itself. Myasthenia gravis affects how your nerves communicate with your muscles. It leads to muscle weakness that worsens throughout the day and with activity. Drooping eyelids and/or double vision are often the first sign Researchers aren’t sure why this happens. Studies suggest that certain immune system cells in your thymus gland have trouble identifying what’s a threat to your body (like bacteria or viruses) versus healthy components. A genetic changes causes congenital myasthenia. Antibodies passed from a birthing parent to a fetus during pregnancy cause neonatal myasthenia. Medications and surgery can help relieve the symptoms of this lifelong illness. Treatment includes medications  that can reduce your symptoms. Monoclonal antibodies: Doctor will give intravenous (IV) or subcutaneous (SQ) infusions of biologically engineered proteins. These proteins suppress an overactive immune system, Plasma exchange (plasmapheresis): An IV connected to a machine removes harmful antibodies from your blood plasma and replaces them with donor plasma or a plasma solution.  Last option is  thymectomy surgery is done to remove the thymus gland.

Causes

Myasthenia gravis (autoimmune type) happens when your body’s immune system mistakenly attacks itself. Researchers aren’t sure why this happens. Studies suggest that certain immune system cells in your thymus gland have trouble identifying what’s a threat to your body (like bacteria or viruses) versus healthy components.

A genetic change causes congenital myasthenia. Antibodies passed from a birth mother to a fetus during pregnancy cause neonatal myasthenia.

Symptoms

Symptoms of myasthenia gravis may include:

  • Muscle weakness in your arms, hands, fingers, legs and neck.
  • Fatigue.
  • Droopy eyelids (ptosis).
  • Blurry or double vision.
  • Limited facial expressions.
  • Difficulty speaking, swallowing or chewing.
  • Trouble walking.

Initial symptoms of myasthenia gravis happen suddenly. Your muscles usually get weaker when you’re active. Muscle strength returns when you rest. The intensity of muscle weakness often changes from day to day. Most people feel strongest at the start of the day and weakest at the end of the day.

In rare instances, myasthenia gravis affects muscles in your respiratory system. You may have shortness of breath or more serious breathing problems. Contact 911 or your local emergency services number if you have trouble breathing. In general, this doesn’t occur suddenly.

Types of myasthenia gravis

The types of myasthenia gravis include:

  • Autoimmune myasthenia: It’s an autoimmune condition where the cause isn’t well understood but the likely cause is the production of certain types of antibodies (immune system proteins). This is the most common type.
  • Neonatal myasthenia: A fetus gets certain antibodies from their birth mother who has myasthenia gravis. An infant may have a weak cry or sucking reflex at birth. These temporary symptoms usually go away after three months.
  • Congenital myasthenia: It isn’t an autoimmune condition, and a genetic change causes this type.

There are two subtypes of autoimmune myasthenia:

  • Ocular: The muscles that move your eyes and eyelids weaken. Your eyelids may droop, or you may not be able to keep your eyes open. Some people have double vision. Eye weakness is often the first sign of myasthenia. Ocular myasthenia gravis may evolve into the generalized form for nearly half of all people diagnosed with this type.
  • Generalized: Muscle weakness affects your eye muscles and others in your face, neck, arms, legs and throat. You may find it difficult to speak or swallow, lift your arms over your head, stand up from a seated position, walk long distances and climb stairs.

Risk factors for myasthenia gravis include:

Myasthenia gravis is most common among females around age 40 and males after age 60. The condition can affect anyone at any age.

You may be more at risk of developing myasthenia gravis if you:

  • Have a history of other autoimmune conditions, such as rheumatoid arthritis and lupus.
  • Have thyroid disease.

If you have myasthenia gravis, your symptoms could trigger (start) if you:

  • Take medications for malaria and heart arrhythmias.
  • Underwent surgery.
  • Had an infection.

Diagnosis and Tests

Testing confirms a diagnosis. It may include:

  • Blood antibody tests: About 85% of people with myasthenia gravis have unusually high levels of acetylcholine receptor antibodies in their blood. Approximately 6% of people diagnosed have muscle-specific kinase (MuSK) antibodies.
  • Imaging scans: An MRI or CT scan can check for thymus gland problems like tumors.
  • Electromyography (EMG): An EMG measures the electrical activity of muscles and nerves. This test detects communication problems between nerves and muscles.

Myasthenia gravis stages

There are five main classifications of myasthenia gravis that your healthcare provider may use during a diagnosis:

  • Class I: Muscle weakness only affects your eyes (ocular muscle).
  • Class II: Muscle weakness is mild.
  • Class III: Muscle weakness is moderate.
  • Class IV: Muscle weakness is severe.
  • Class V: Severe muscle weakness affects how you breathe. You may need intubation or mechanical ventilation.

Management and Treatment

There’s no cure for myasthenia gravis. But effective treatment is available to help manage your symptoms. Treatments may include:

  • Medications: Certain medications can reduce your symptoms.
  • Monoclonal antibodies: You’ll receive intravenous (IV) or subcutaneous (SQ) infusions of biologically engineered proteins. These proteins suppress an overactive immune system.
  • Plasma exchange (plasmapheresis): An IV connected to a machine removes harmful antibodies from your blood plasma and replaces them with donor plasma or a plasma solution.
  • IV or SQ immunoglobulin (IVIG or SCIG): You’ll receive IV infusions of donor antibodies over two to five days. IVIG or SCIG can treat myasthenia crisis, as well as generalized myasthenia gravis.
  • Surgery: A thymectomy is surgery to remove the thymus gland.

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Porencephaly

Jan 30, 2025 Posted by admin Neurology 0 comments

Overview

Porencephaly is a structural abnormality of the brain. It may manifest before or after birth. It is a very rare disorder that affects your central nervous system, children with this condition develop fluid-filled cavities, or cysts, on their brain. These brain cysts can delay and impair your child’s growth and development. These cysts can interfere with normal brain growth and development. Children with porencephaly may experience speech difficulties. They may also have other neurological deficits (abnormal functioning in areas of their body).However, on rare occasions, it can be related to an inherited genetic condition. There is no clear cure for porencephaly. However, there are many ways to manage its effects. Treatments focus on improving neurological impairments. If hydrocephalus is present, excess fluid around your child’s brain can be drained.

SYMPTOMS

Possible symptoms include: 

  • Motor delay (differences in muscle tone, movement, posture, or developmental milestones) 
  • Speech and language delay 
  • Learning challenges 
  • Cognitive or intellectual differences 
  • Slow overall growth 
  • Developmental delays in multiple areas (global delays) 
  • Seizures 
  • Spastic hemiplegia (stiffness and weakness in limbs)  
  • Hypotonia (low muscle tone) 
  • Macrocephaly (large head) 
  • Microcephaly (small head) 
  • Hydrocephalus (increased pressure in the brain) 

Causes

With a lack of oxygen or bleeding in your child’s brain, fluid-filled cysts can replace normal brain tissue. This is more likely to happen if the following risk factors are present:

  • Alcohol or drug use during pregnancy.
  • Gestational diabetes.
  • Infection during pregnancy.
  • Infection shortly after birth.
  • Trauma during birth.
  • Other causes of stroke or lack of oxygen to their brain (like blood disorders and metabolic diseases). Sometimes, healthcare providers can find clues about the underlying cause based on the location, size and distribution of the cysts.
  • Some types of porencephaly are genetic and can be inherited. This means that a person only needs one abnormal gene copy to show symptoms. The abnormal gene can be inherited from a mother or father. A person with a COL4A1 or COL4A2 gene mutation has a 50 percent chance of passing on condition. Two people with the same mutation may have very different symptom severity.  

Diagnosis

To confirm a diagnosis of porencephaly, your healthcare provider needs to see detailed images of your child’s brain. You or your child may have imaging tests like:

  • Prenatal ultrasound or ultrasound.
  • CT scan.
  • MRI.

Management and Treatment

There is no clear cure for porencephaly. This structural abnormality cannot be reversed. However, there are treatments that can help with symptoms arising in the aftermath of porencephaly. 

Symptoms and Available Treatments 

  • Cognitive, speech, language, or motor delays. Physical therapy, occupational therapy, special instruction, and speech therapy can be very effective. 
  • Learning challenges. Working closely with school systems to generate individualized educational plans and support can be helpful. Special education programs can also help. 
  • Seizures. Various medications can be used to treat seizures. There may be dietary and surgical options as well 
  • Spasticity. Medications can manage high tone or stiffness in muscles. For instance, injections of botulinum toxin can help loosen muscles or medications such as baclofen are commonly used.  
  • Adaptive equipment. Braces and adaptive equipment can significantly improve a child’s functioning and quality of life. 
  • Hydrocephalus. This is increased pressure in the brain. Depending on the specific location of the porencephaly, a resection or surgical shunt can relieve this pressure. 

Outlook

Outcomes can vary widely depending on the size and location of the fluid-filled cysts. Some children have mild or no symptoms. They may not even be diagnosed.  Others may have some mild learning challenges. They may have treatable seizures or motor tone abnormalities. Children in this moderate category do very well with supportive treatment.   

Still others may have more severe secondary symptoms. They may have larger cysts. Their cysts may be in problematic brain locations. These children may have been diagnosed soon after birth. Supportive care, therapies, and special education programs can go a long way. They can improve the long-term outcomes of these children. 

Further, if you come across with this type of condition nearby in your country or with your friends or relatives you can share us the latest reports available via, email (query@gtsmeditour.com) or you can whatsapp the reports on +919880149003 and get free medical opinion from our panel of doctors and further support for the right treatment.

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Gynecomastia – Enlarged breast in men

Jan 26, 2025 Posted by admin Plastic surgery 0 comments

Overview

Gynecomastia basically is the non-cancerous enlargement of one or both breasts in men due to the growth of breast tissue as a result of a hormone imbalance between estrogens and androgens. it occurs usually in new born males, boys going through puberty and older male, may develop gynecomastia due to natural changes in hormone levels. Gynecomastia can affect one or both breasts, sometimes unevenly. This is commonly associated with obesity and can be ruled out by physical exam. Gynecomastia isn’t harmful to your physical health, but it may make you self-conscious and affect your self-esteem. Your mental health is just as important as your physical health. this is commonly associated with obesity and can be ruled out by physical exam. Gynecomastia may go away on its own. If it doesn’t, medicine or surgery may help.

Symptoms

Gynecomastia symptoms can include:

  • Pain, especially in teenagers.
  • Swollen breast tissue.
  • Tender breasts.
  • Sensitive nipples when they rub against clothes.

Possible Causes

Gynecomastia is more likely to happen during periods of hormonal fluctuations, especially at or during:

  • Birth: More than half of newborns AMAB have enlarged breasts, or breast buds. It typically happens due to exposure to the birthing parent’s estrogen levels. Gynecomastia in newborns usually goes away within a few weeks.
  • Puberty: More than half of adolescents AMAB have some degree of breast enlargement during puberty. It likely happens due to a faster rise in estrogen than in testosterone. But this imbalance usually regulates with time — about six months to two years.
  • Late adulthood: Gynecomastia is common in people AMAB over 50. With age, your body produces less testosterone. People over 50 are also more likely to be taking medications that can cause gynecomastia.

These causes of gynecomastia are natural and to be expected — they’re not physically harmful. But gynecomastia can also be a symptom of certain medical conditions that require treatment.

Conditions that cause gynecomastia

Gynecomastia may be a symptom or result of the following health conditions:

  • Adrenal tumors.
  • Hyperthyroidism (overactive thyroid).
  • Kidney disease or kidney failure.
  • Klinefelter syndrome (an inherited condition).
  • Liver disease and cirrhosis.
  • Male hypogonadism (low testosterone).
  • Pituitary gland tumors (pituitary adenomas), especially prolactinomas.
  • Testicular tumors.

Diagnosis

To diagnose gynecomastia, a thorough history and physical examination are obtained by a physician. Important aspects of the physical examination include evaluation of the male breast tissue with palpation to evaluate for breast cancer and pseudogynecomastia (male breast tissue enlargement solely due to excess fatty tissue), evaluation of penile size and development, evaluation of testicular development and an assessment for masses that raise suspicion for testicular cancer, and proper development of secondary sex characteristics such as the amount and distribution of pubic and underarm hair. Mammography is the method of choice for radiologic examination of male breast tissue in the diagnosis of gynecomastia when breast cancer is suspected on physical examination.

Care and Treatment

What is the treatment for gynecomastia?

Some people don’t want or need treatment for gynecomastia. But if you do, your healthcare provider may recommend a few different strategies depending on your situation:

  • Stopping or switching a medication: If a medication or other substance is causing gynecomastia, your provider may recommend that you switch to a different one or stop using it. Make sure your provider is aware of any nonprescription medications — like dietary and herbal supplements — you’re taking. Never stop taking a prescription medication without your provider’s guidance.
  • Underlying condition treatment: If an underlying condition is the cause, like a tumor or hypogonadism, treatment for the condition may also treat gynecomastia.
  • Gynecomastia surgery: Some people choose to get surgery for gynecomastia (male breast reduction) to remove excess breast tissue. This is an elective cosmetic surgery.

To Conclude:

Gynecomastia itself is a benign finding. It does not confer a poor prognosis, for some patients with underlying pathologies such as testicular cancer the prognosis may be worse. The glandular tissue typically grows under the influence of hormonal stimulation and is often tender or painful. Furthermore, gynecomastia frequently presents social and psychological difficulties such as low self-esteem, depression or shame.

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HMPV (Human metapneumovirus ) Is just a cold?

Jan 17, 2025 Posted by admin Pulmonology 0 comments

Overview

Human metapneumovirus (HMPV) is a virus that usually causes symptoms similar to a cold. You might cough or wheeze, have a runny nose or a sore throat. Most cases are mild, but young children, adults over 65 and people with weakened immune systems are at a higher risk for serious illness. It often causes upper respiratory infections, but it can sometimes cause lower respiratory infections like pneumonia, asthma flare-ups or make chronic obstructive pulmonary disease (COPD) worse. HMPV infections are more common in the winter and early spring. Hmpv  virus is diagnosed via, RTPCR/ Swab Test like we do in Covid 19 so, everyone knows what RTPCR – reverse transcript test polymerised chain reaction  to look at the viral particles the RNA part of this virus and RTPCR is the gold standard. If one is severely ill, you might need to be admitted to the hospital. There, healthcare providers can monitor your condition and help prevent you from getting sicker. They might treat you with:

  • Oxygen therapy
  •  IV fluids.
  • Corticosteroids

Symptoms and Causes

Generally, people infected with hMPV will have cold or flu-like symptoms:

  • cough
  • fever
  • sore throat
  • runny or stuffy nose
  • body ache
  • headache.

It can make a few people quite sick, causing infection of the lung (pneumonia) or inflammation of the airways to the lungs (bronchiolitis, bronchitis). Symptoms of more severe disease include wheezing, difficulty breathing, chest pain, dizziness, severe fatigue, dehydration, or a persistent fever that does not improve. If someone is experiencing any of these severe symptoms, they should seek medical advice.

A virus — a small germ that uses your cells to make more copies of itself — causes HMPV. It’s part of the same group of viruses that cause RSV, measles and mumps.

HMPV spreads through direct contact with someone who has it or from touching things contaminated with the virus. For instance:

  • Coughing and sneezing.
  • Shaking hands, hugging or kissing.
  • Touching surfaces or objects like phones, door handles, keyboards or toys.

Risk factors for human metapneumovirus?

Anyone can get HMPV, but you’re at a higher risk for severe illness if you:

  • Are younger than 5 (especially premature infants) or older than 65.
  • Have a weakened immune system (from conditions like HIV, cancer or autoimmune disorders, or from medications that suppress your immune system).
  • Have asthma or COPD.

Diagnosis and Tests

HMPV based on your symptoms and health history. They might use a soft-tipped stick (swab) to get a sample from your nose or throat. A lab tests the sample for viruses and other infections. Keep in mind that you probably won’t be tested for HMPV unless you have serious symptoms.

Sometimes, your provider may also do a bronchoscopy or chest X-rays to look for changes in the airways of your lungs.

Treatment

As hMPV is a cold virus, people can treat their symptoms with over-the-counter medicines to treat pain, fever, stuffy nose and cough. Getting plenty of rest and staying hydrated also helps.

Currently, there is no approved antiviral medicine for hMPV. Most people feel better in a few days. If symptoms get worse, they should contact their health care provider. Those who are at higher risk should also consult their doctor, even if their symptoms are not too bad.

In a small number of cases, when people need to be hospitalized, doctors may give them extra oxygen to help them recover.

Prevention

You can reduce your risk of getting HMPV and other infectious diseases by:

  • Washing your hands often with soap and water. If you aren’t able to use soap and water, use an alcohol-based hand sanitizer.
  • Cover your nose and mouth — with your elbow, not your bare hand — when you sneeze or cough.
  • Avoid being around other people when you or they are sick with a cold or other contagious diseases.
  • Consider wearing a mask if you’re sick and can’t avoid being around others.
  • Avoid touching your face, eyes, nose and mouth.
  • Don’t share food or eating utensils (forks, spoons, cups) with others.

Takeaway

There is no need to panic, Human metapneumovirus (HMPV) is a common virus that usually causes symptoms similar to a cold. If you’re older than 5, you’ve probably already had it at least once. Most of the time, you’ll get better at home in a few days. But sometimes HMPV can cause serious complications. Young children, adults over 65 and people with weakened immune systems are at a higher risk for severe illness. Talk to your healthcare provider if you have any concerns about HMPV. Seek medical care right away if you or your child is having trouble breathing or if you have other signs of serious illness.

Further to add we also provide many other major diagnoses treatment abroad such as cardiac surgery, Neurospine surgery, Transplants etc , if you or your loved ones looking for this kind of treatment please do share the latest reports to us via email – query@gtsmeditour.com or  you can whatsapp the reports, images etc on +91 9880149003 and get the free medical opinion.

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Cerebellar Ataxia – All you need to be aware..!

Jan 12, 2025 Posted by admin Neurology 0 comments

Overview

Ataxia describes poor muscle control that causes clumsy movements. It can affect walking and balance, hand coordination, speech and swallowing, and eye movements.

Ataxia usually results from damage to the part of the brain called the cerebellum or its connections. The cerebellum controls muscle coordination. Many conditions can cause ataxia, including genetic conditions, stroke, tumors, multiple sclerosis, degenerative diseases and alcohol misuse. Certain medicines also can cause ataxia. If ataxia is caused by a condition such as vitamin deficiency or celiac disease, treating the condition may help improve symptoms. Some studies have found that aerobic and strength exercises may be beneficial for some people with ataxia

Causes

Ataxia is caused by damage to the part of the brain called the cerebellum or its connections. The cerebellum is located at the base of the brain and connects to the brainstem. The cerebellum helps control balance, eye movements, swallowing and speech.

There are three major groups of ataxia causes: acquired, degenerative and hereditary.

Acquired causes

  • Ataxia is a potential side effect of certain medicines. It can be caused by sedatives such as phenobarbital and benzodiazepines. It also may be caused by anti-seizure medicines, especially phenytoin. Some types of chemotherapy also can cause ataxia.
  • Heavy metal poisoning, such as from lead or mercury, and solvent poisoning, such as from paint thinner, also can cause ataxia.
  • Too little or too much of certain vitamins.Ataxia may be caused by not getting enough vitamin E, vitamin B-12 or vitamin B-1, also known as thiamine. Too little or too much vitamin B-6 also may cause ataxia. Not getting enough of a certain vitamin is known as a vitamin deficiency. When a vitamin deficiency is the cause of ataxia, it often can be reversed.
  • Thyroid conditions.Hypothyroidism and hypoparathyroidism can cause ataxia.
  • Sudden onset of ataxia occurs with a stroke. This may be either due to a blood vessel blockage or bleeding on the brain.
  • Multiple sclerosis.This condition may cause ataxia.
  • Autoimmune diseases.Several diseases in which the immune system attacks healthy cells, known as autoimmune diseases, can cause ataxia. They can include a disease that causes inflammatory cells to collect in parts of the body, known as sarcoidosis. Or they may include an illness caused by an immune reaction to eating gluten, known as celiac disease. Ataxia also can be caused by certain types of a condition that results in swelling in the brain and spinal cord, called encephalomyelitis.
  • Rarely, ataxia may be a symptom of chickenpox in childhood and other viral infections such as HIV and Lyme disease. It might appear in the healing stages of the infection and last for days or weeks. The symptom usually gets better over time.
  • COVID-19.Ataxia can result from a serious infection with the virus that causes COVID-19.
  • Paraneoplastic syndromes.These are rare degenerative conditions triggered by an immune system response to a cancerous tumor, known as a neoplasm. Paraneoplastic syndromes most often occur from lung, ovarian or breast cancer or lymphoma. Ataxia can appear months or years before the cancer is diagnosed.
  • Changes in the brain.An infected area in the brain, known as an abscess, may cause ataxia. And a growth on the brain, such as a cancerous or noncancerous tumor, can damage the cerebellum.
  • Head trauma.Brain damage may cause ataxia.
  • Cerebral palsy.This is a general term for a group of conditions caused by damage to a child’s brain. The damage may happen before, during or shortly after birth. It affects the child’s ability to coordinate body movements.

Degenerative causes

  • Multiple system atrophy.This rare condition affects movements and functions such as blood pressure. It can cause ataxia and other symptoms, including lack of bladder control, fainting after standing up and a sleep behavior condition in which a person acts out dreams.

Hereditary causes

Some types of ataxia and some conditions that cause ataxia are passed down in families. These conditions also are called hereditary. If you have one of these conditions, you may have been born with a genetic change that causes the body to make irregular proteins.

 

 

Symptoms

Ataxia symptoms can develop over time or start suddenly. Ataxia can be a symptom of several nervous system conditions. Symptoms may include:

  • Poor coordination.
  • Walking unsteadily or with the feet set wide apart.
  • Poor balance.
  • Trouble with fine motor tasks such as eating, writing or buttoning a shirt.
  • Changes in speech.
  • Back-and-forth eye movements that can’t be controlled.
  • Trouble swallowing.

Treatments

Ataxia treatment depends on the cause. If ataxia is caused by a condition such as vitamin deficiency or celiac disease, treating the condition may help improve symptoms. If ataxia results from chickenpox or other viral infections, it is likely to resolve on its own.

People with Friedreich ataxia can be treated with an oral medicine called omaveloxolone (Skyclarys). The U.S. Food and Drug Association approved the medicine for adults and teenagers 16 and older. In clinical trials, taking the medicine improved symptoms. People who take this medicine need regular blood tests because omaveloxolone can affect liver enzyme and cholesterol levels. Potential side effects of omaveloxolone include headache, nausea, stomach pain, fatigue, diarrhea, and muscle and joint pain.

Symptoms such as stiffness, tremor and dizziness might improve with other medicines. Your healthcare professional also might recommend adaptive devices or therapies.

Adaptive devices

Ataxia caused by conditions such as multiple sclerosis or cerebral palsy might not be treatable. But adaptive devices may help. They include:

  • Hiking sticks or walkers for walking.
  • Modified utensils for eating.
  • Communication aids for speaking.

Therapies

You might benefit from certain therapies, including:

  • Physical therapy to help with coordination and enhance mobility.
  • Occupational therapy to help with daily living tasks, such as feeding yourself.
  • Speech therapy to improve speech and aid swallowing.

Some studies have found that aerobic and strength exercises may be beneficial for some people with ataxia.

Further if  you come across any one with neurological disorder or any kind of disease sufferer you can share us the latest reports of the patient to our email address – query@gtsmeditour.com or you can whatsapp   +91 9880149003 all the reports and MRI clips and get  free second medical opinion from the highly experienced doctors  connected with us from Major hospitals.

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Intussusception – children

Dec 31, 2024 Posted by admin Paediatrics 0 comments

Overview

Intussusception is a rare, serious disorder  the sliding of one part of the intestine into another. This telescoping action often blocks food or fluid from passing through. Intussusception is the most common cause of intestinal obstruction in children younger than 3 years old. The cause of most cases of intussusception in children is unknown. Though intussusception is rare in adults, most cases of adult intussusception are the result of an underlying medical condition, such as a tumor. Intussusception also cuts off the blood supply to the part of the intestine that’s affected. This can lead to infection, death of bowel tissue or a tear in the bowel, called perforation. In children, the intestines can usually be pushed back into position with a minor procedure. In adults, surgery is often required to correct the problem.

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Causes

Intussusception is caused by part of the intestine being pulled inward into itself.

The pressure created by the walls of the intestine pressing together causes:

  • Decreased blood flow
  • Irritation
  • Swelling

Intussusception can block the passage of food through the intestine. If the blood supply is cut off, the segment of intestine pulled inside can die. Heavy bleeding may also occur. If a hole develops, infection, shock, and dehydration can take place very rapidly.

The cause of intussusception is not known. Conditions that may lead to the problem include:

  • Viral infection
  • Enlarged lymph node in the intestine
  • Polyp or tumor in the bowel

Intussusception can affect both children and adults. It is more common in boys. It usually affects children ages 5 months to 3 years.

Symptoms

Children

The first sign of intussusception in an otherwise healthy infant may be sudden, loud crying caused by belly pain. Infants who have belly pain may pull their knees to their chests when they cry.

The pain of intussusception comes and goes, usually every 15 to 20 minutes at first. These painful episodes last longer and happen more often as time passes.

Other symptoms of intussusception include:

  • Stool mixed with blood and mucus — sometimes referred to as currant jelly stool because of its appearance.
  • Vomiting.
  • A lump in the belly.
  • Weakness or lack of energy.
  • Diarrhea.

Not everyone has all of the symptoms. Some infants have no obvious pain. Some children don’t pass blood or have a lump in the belly. And some older children have pain but no other symptoms.

 Diagnosis

The health care provider will perform a thorough exam, which may reveal a mass in the abdomen. There may also be signs of dehydration or shock.

Tests may include:

Risk factors

Risk factors for intussusception include:

  • Age. Children — especially young children — are much more likely to develop intussusception than adults are. It’s the most common cause of bowel obstruction in children between the ages of 6 months and 3 years.
  • Sex. Intussusception more often affects boys.
  • Irregular intestinal formation at birth. Intestinal malrotation is a condition in which the intestine doesn’t develop or rotate correctly. This increases the risk of intussusception.
  • Certain conditions. Some disorders can increase the risk of intussusception, including:
    • Cystic fibrosis.
    • Henoch-Schonlein purpura, also known as IgA vasculitis.
    • Crohn’s disease.
    • Celiac disease.

Treatment

Treatment options for intussusception may include:

  • A water soluble contrast or air enema. This is both a diagnostic procedure and a treatment. If an enema works, further treatment is usually not necessary. This treatment can actually fix intussusception 90% of the time in children, and no further treatment is needed. If the intestine is torn (perforated), this procedure can’t be used.

    Intussusception recurs up to 20% of the time, and the treatment will have to be repeated. It is important that a surgeon be consulted even if treatment with enema is planned. This is because of the small risk of a tear or rupture of the bowel with this therapy.

  • Surgery. If the intestine is torn, if an enema is unsuccessful in correcting the problem or if a lead point is the cause, surgery is necessary. The surgeon will free the portion of the intestine that is trapped, clear the obstruction and, if necessary, remove any of the intestinal tissue that has died. Surgery is the main treatment for adults and for people who are acutely ill.

In some cases, intussusception may be temporary and go away without treatment.

Further, if you come across any of your friend or closed one looking for any kind of disease treatment you can share  us the latest available reports via, email – query@gtsmeditour.com or you can whatsapp the reports to us +91 9880149003 and get the second medical opinion which can help you decide to take right treatment.

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Living with Sheehan’s syndrome..

Dec 25, 2024 Posted by admin Gynaecology 0 comments

Overview

Sheehan syndrome is also called postpartum hypopituitarism or postpartum pituitary necrosis. Sheehan’s syndrome occurs as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage i.e, severe blood loss during childbirth causes long-term damage to your pituitary gland. A damaged pituitary gland can’t produce enough of the hormones your body needs to function. Sheehan syndrome is rare but treatable with medication.

If you have Sheehan syndrome, severe blood loss deprives your pituitary gland of the oxygen it needs to work properly. As a result, some of the tissue in your pituitary gland dies.

Your pituitary gland sits at the base of your brain. It grows during pregnancy, making it susceptible to injury. Damage to your pituitary gland can have widespread effects on your body because it’s a “master gland.” Not only does your pituitary gland secrete hormones that spur important processes in your body, but it also tells other glands to secrete hormones. Your pituitary gland helps regulate processes that impact your brain, reproductive system, muscles, skin, energy and mood.

Sheehan syndrome is unfortunately most common in developing nations like India. Sheehan syndrome can be life-threatening if you don’t get treated. With long-term hormone therapy, you should be able to live a healthy, normal life. Due to advances in medical care, Sheehan syndrome is very rare but treatable with medications.

Causes

Severe blood loss during childbirth causes Sheehan syndrome. Your pituitary gland grows during pregnancy and can even double in size. The size increase makes it especially vulnerable to injury if it doesn’t get enough oxygen. Losing too much blood or experiencing a severe drop in blood pressure during childbirth deprives your pituitary gland of the oxygen it needs to stay healthy.

As a result of this damage, your pituitary gland can’t produce enough of the hormones you need to regulate certain body functions. Insufficient hormones can negatively impact several of your body’s common functions. Hormone deficiencies resulting from a pituitary gland injury can slow or stop processes related to your reproductive system, nervous system and more.

Symptoms

The symptoms of Sheehan syndrome sometimes start right after childbirth. Or, they can come on gradually months or even years later. Women who have very little damage to their pituitary gland might not develop symptoms for several years.

Symptoms of Sheehan syndrome include:

  • difficulty breastfeeding or an inability to breastfeed
  • irregular menstrual periods (oligomenorrhea) or no periods (amenorrhea)
  • weight gain
  • intolerance to cold
  • slowed mental function
  • loss of pubic and underarm hair
  • fatigue or weakness
  • fine wrinkles around the eyes and lips
  • breast shrinkage
  • dry skin
  • joint pain
  • decreased sex drive
  • low blood sugar
  • low blood pressure
  • irregular heartbeat

Factors

Factors that make you more likely to have severe blood loss include:

  • placental abruption, when the placenta that nourishes the unborn baby detaches from the uterus
  • placenta previa, when the placenta partly or totally covers the cervix (the bottom part of the uterus that connects to the vagina)
  • giving birth to a large baby, who weighs more than 8.8 pounds (4,000 grams), or having multiples, like twins
  • preeclampsia, high blood pressure during pregnancy
  • assisted labor, a forceps or vacuum-assisted delivery

Diagnosis and Tests

  • Medical history. Tell your provider about any blood loss or other complications you experienced during previous childbirths. Let them know about any symptoms afterward (for instance, having trouble producing breast milk or not getting a menstrual period). Tell your provider about any symptoms you’re experiencing, including when they occur and what improves them.
  • Blood tests. Your provider will take a sample of your blood and check the hormone levels that relate to your pituitary gland’s functioning.
  • Imaging tests. An MRI  (magnetic resonance imaging) can allow your provider to rule out other causes of your symptoms, like a tumor on your pituitary gland. They may order a CT scan (computed tomography scan) if the MRI results are inconclusive.

Treatment & Management

Treatment for Sheehan syndrome is to take the hormones your body no longer produces. You’ll need to stay on most of these hormones for life:

  • Corticosteroids. Prednisone or hydrocortisone replaces adrenal hormones.
  • Levothyroxine (Levoxyl, Synthroid). This medication increases the levels of the hormones your thyroid gland makes.
  • Estrogen plus progesterone (or estrogen alone, if your uterus has been removed). These female hormones help normalize your menstrual cycle. You can stop taking them once you reach the age of menopause.
  • LH and FSH. These hormones stimulate ovulation and can help you get pregnant.
  • Growth hormone. This hormone helps maintain bone density, improves your body’s ratio of muscle to fat, and lowers cholesterol levels. A specialist called an endocrinologist will oversee your treatment. You’ll have regular blood tests to check your hormone levels.

Prognosis

With treatment, the prognosis for Sheehan syndrome is excellent. Most people don’t have serious complications. Many have successful pregnancies following their diagnosis, with careful observation from their care team. You’ll need to see your endocrinologist for regular checkups to ensure that you’re receiving the right amount of medication you need to make up for any hormone deficiencies. Part of your follow-up care will involve regular blood draws to check hormone levels.

Further if you come across with your colleagues, near ones and dear ones with any kind of diagnosis untreatable at your place due to non availability of advance machineries or technology , we are here to assist you the best way possible treatment available with us via major hospitals we are connected, you just need to share us the latest reports via, email – query@gtsmeditour.com or you can whatsapp the same on +91 9880149003 and avail free medical opinion .

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How rabies can lead to death if unvaccinated

Dec 10, 2024 Posted by admin General Health 0 comments

Overview

Rabies is a deadly virus spread to people from the saliva of infected animals. In India rabies virus is usually transmitted through a bite especially stray dog, once a person begins showing signs and symptoms of rabies, the disease nearly always causes death. For this reason, anyone who may have a risk of contracting rabies should receive rabies vaccinations for protection. It causes symptoms like seizures, hallucinations and paralysis. Rabies is preventable if you’re vaccinated quickly after exposure. Once symptoms start, rabies is fatal.

There’s no approved treatment for rabies once you have symptoms. If you’ve been exposed to rabies (were bitten by or been in contact with an infected animal), contact a healthcare provider as soon as possible.

Clean the wound gently but thoroughly with soap and water. Ask your provider for additional instructions on cleaning the wound. Your provider will give you a series of shots (vaccinations) to prevent the virus from causing rabies. They’ll also give you an antibody treatment directly to the wound if you’ve never been vaccinated before.

Symptoms

Prodromal symptoms of rabies

  • Fever.
  • Tiredness (fatigue).
  • Bite wound burning, itching, tingling, pain or numbness.
  • Cough.
  • Sore throat.
  • Muscle pain.
  • Nausea and vomiting.
  • Diarrhea.

Acute neurologic symptoms of rabies

Neurological symptoms of rabies are either furious or paralytic. Furious rabies symptoms may come and go with periods of calm in between (furious episodes).

Furious rabies symptoms
  • Agitation and aggression.
  • Restlessness.
  • Seizures.
  • Hallucinations.
  • Muscle twitching (fasciculations).
    • Fever.
    • Racing heart (tachycardia).
    • Fast breathing (hyperventilation).
    • Excessive salivation.
    • Two different-sized pupils (anisocoria).
    • Facial paralysis (facial palsy).
    • Fear of water/drinking (hydrophobia).
    • Fear of air being blown in your face/drafts (aerophobia).
    • Delirium.
    Paralytic rabies symptoms
    • Fever.
    • Headache.
    • Neck stiffness.
    • Weakness, especially starting from the body part that was bitten and progressing to other body parts.
    • Tingling, “pins and needles” or other strange sensations.
    • Paralysis.
    • Coma.

Causes

The rabies virus causes a rabies infection. The virus spreads through the saliva of infected animals. Infected animals can spread the virus by biting another animal or a person.

In rare cases, rabies can be spread when infected saliva gets into an open wound or the mucous membranes, such as the mouth or eyes. This could happen if an infected animal licked an open cut on your skin.

Animals that can transmit the rabies virus

Any mammal (an animal that suckles its young) can spread the rabies virus. The animals most likely to spread the rabies virus to people include:

Pets and farm animals
  • Cats
  • Cows
  • Dogs
  • Ferrets
  • Goats
  • Horses
Wild animals
  • Bats
  • Beavers
  • Coyotes
  • Foxes
  • Monkeys
  • Raccoons
  • Skunks
  • Woodchucks

In very rare cases, the virus has been spread to tissue and organ transplant recipients from an infected organ.

Diagnosis and Tests

Unlike most illnesses, you shouldn’t wait for symptoms to diagnose rabies. If you’ve been bitten or scratched by a wild animal or a pet that might have rabies, talk to your healthcare provider right away. They’ll examine your wound and ask questions to determine whether you need to be treated for rabies. You may also be tested for signs of rabies.

Your provider may ask you:

  • How you got hurt.
  • What kind of animal scratched or bit you.
  • Whether they can test or observe the animal.

If the animal could have rabies, it’ll be watched for signs or tested, if possible. Animals have to be euthanized (humanely killed) to test them.

What tests will be done to diagnose this condition?

Tests for rabies might include:

  • Saliva test. You’ll spit into a tube. It’ll be sent to a lab to look for signs of rabies.
  • Skin biopsy. Your provider will take a small sample of skin from the back of your neck. Your skin sample will be sent to a lab to look for signs of rabies.
  • Cerebrospinal fluid test (lumbar puncture). Your provider will use a needle to take a cerebrospinal fluid (CSF) from your lower back. Your CSF sample will be sent to a lab to look for signs of rabies.
  • Blood tests. Your provider will use a needle to take blood from your arm. Your blood will be sent to a lab to look for signs of rabies.
  • MRI. You’ll lie in a machine that takes pictures of your brain. Your provider will use the pictures to help determine what’s causing your symptoms.

Treatment

Once a rabies infection is established, there’s no effective treatment. Though a small number of people have survived rabies, the disease usually causes death. For that reason, if you think you’ve been exposed to rabies, you must get a series of shots to prevent the infection from taking hold.

Treatment for people bitten by animals with rabies

If you’ve been bitten by an animal that is known to have rabies, you’ll receive a series of shots to prevent the rabies virus from infecting you. If the animal that bit you can’t be found, it may be safest to assume that the animal has rabies. But this will depend on several factors, such as the type of animal and the situation in which the bite occurred.

Rabies shots include:

  • A fast-acting shot (rabies immune globulin) to prevent the virus from infecting you. This is given if you haven’t had the rabies vaccine. This injection is given near the area where the animal bit you if possible, as soon as possible after the bite.
  • A series of rabies vaccinations to help your body learn to identify and fight the rabies virus. Rabies vaccinations are given as injections in your arm. If you haven’t previously had the rabies vaccines, you’ll receive four injections over 14 days. If you have had the rabies vaccine, you’ll have two injections over the first three days.

Determining whether the animal that bit you has rabies

In some cases, it’s possible to determine whether the animal that bit you has rabies before beginning the series of rabies shots. That way, if it’s determined the animal is healthy, you won’t need the shots.

Procedures for determining whether an animal has rabies vary by situation. For instance:

  • Pets and farm animals. Cats, dogs and ferrets that bite can be observed for 10 days to see if they show signs and symptoms of rabies. If the animal that bit you remains healthy during the observation period, then it doesn’t have rabies and you won’t need rabies shots.

    Other pets and farm animals are considered on a case-by-case basis. Talk to your doctor and local public health officials to determine whether you should receive rabies shots.

  • Wild animals that can be caught. Wild animals that can be found and captured, such as a bat that came into your home, can be killed and tested for rabies. Tests on the animal’s brain may reveal the rabies virus. If the animal doesn’t have rabies, you won’t need the shots.
  • Animals that can’t be found. If the animal that bit you can’t be found, discuss the situation with your doctor and the local health department. In certain cases, it may be safest to assume that the animal had rabies and proceed with the rabies shots. In other cases, it may be unlikely that the animal that bit you had rabies and it may be determined that rabies shots aren’t necessary.

Conclusion

Bringing awareness is as important as preventing the rabies spread. so if you have pets at home ensure they are vaccinated timely, as said prevention is better than cure. also if you come accross your friends looking for any kind of neurological disease treatment  abroad you share  us the latest reports via email query@gtsmeditour.com or whatsapp on +919880149003.

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