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What do you know about" triple x syndrome?

Triple x syndrome, which may also be referred to as trisomy x, is a genetic condition that mainly affects females and is caused by the presence of an extra x chromosome. Typically, females have two x chromosomes, but in this disorder, there are three x chromosomes instead of two, leading to an overabundance of genetic material.

The exact cause of this extra x chromosome is not well known or understood, but it is believed to be a random event that occurs during the formation of the egg or sperm cells. It is not the result of any specific environmental factor or behavior of the parents.

There are two main forms of triple x syndrome: mosaic and non-mosaic. Mosaic occurs when only some of a person's cells have the extra x chromosome, whereas non-mosaic occurs when all of a person's cells have the extra x chromosome.

What are its signs and symptoms?

The manifestation (or signs and symptoms) of triple x syndrome varies widely among individuals and can be either mild or severe. Common symptoms include tall stature, weak muscle tone, and delays in reaching developmental milestones such as crawling, walking, and talking. ;

Other physical characteristics that may be present include a small head, a flat face, droopy eyelids, and a high-arched palate. Some individuals with triple x syndrome may also have difficulty with coordination and balance.

Intellectually, individuals with triple x syndrome may experience learning difficulties and may have a lower iq compared to those without the condition. However, many individuals with triple x syndrome have normal intellectual development and go on to lead productive lives.

What are the causes of this condition?

Triple x syndrome is caused by the presence of an additional x chromosome in female cells. Normally, females have two x chromosomes (one from each parent), but in triple x syndrome, there is a third x chromosome, leading to extra genetic material.

The cause of this extra x chromosome is not well understood, but it is believed to occur randomly as the egg or sperm cells form. It is said not to be caused by any particular environmental factor or due to any behavior or action of the parents.

There are two main types of triple x syndrome: mosaic and non-mosaic. Mosaic occurs when only some of a person's cells have the extra x chromosome, whereas non-mosaic occurs when all of a person's cells have the extra x chromosome.

Triple x syndrome, in a nutshell, stems from the presence of an extra x chromosome in a female's cells. It is believed to occur randomly and is not caused by any specific environmental factor or behavior of the parents. There are two main types of triple x syndrome: mosaic and non-mosaic.

What are the risks associated with triple x syndrome?

In terms of medical concerns, women with triple x syndrome have a higher risk of developing certain health problems, including bladder control issues, infertility, and cardiovascular disease. Moreover, they may have an increased susceptibility to anxiety, depression, or other mental health issues like those.

Some other health risks or complications associated with triple x syndrome may include:



Delays in physical and intellectual development: individuals with triple x syndrome may experience delays in reaching developmental milestones such as crawling, walking, and talking. They may also have a lower iq compared to individuals not affected by the condition.



Weak muscle tone: weak muscle tone is a common issue for individuals with triple x syndrome and can lead to difficulty with coordination and balance.



Bladder control problems: women with triple x syndrome may be more susceptible to bladder control issues.



Infertility: infertility is a common issue among women with triple x syndrome.



Cardiovascular disease: women with triple x syndrome may be more susceptible to developing cardiovascular disease.



Mental health concerns: anxiety, hypertension, depression, and other mental health problems are more common among individuals with triple x syndrome.




It is important for individuals with triple x syndrome to receive regular medical care and monitoring to help manage any health problems and to receive the support they need to live healthy and productive lives. While triple x syndrome can be associated with several health risks, with proper medical care and support, affected individuals can lead fulfilling lives.

How is it diagnosed?

Triple x can be diagnosed through various medical procedures. These include:



Prenatal testing: prenatal diagnosis of triple x syndrome can be achieved through tests like chorionic villus sampling (cvs) or amniocentesis during pregnancy. These procedures involve removing a sample of the placenta or amniotic fluid to test for genetic abnormalities.



Cytogenetic analysis: this test examines an individual's chromosomes to look for any genetic abnormalities.



Fluorescence in situ hybridization (fish): fish is a test that uses fluorescent probes to detect the presence of specific genes or chromosomes. This test is commonly used to diagnose triple x syndrome.



Chromosomal microarray analysis (cma): this test uses a computer to analyze a person's dna to detect any genetic abnormalities.



Karyotyping: karyotyping is a test that creates a picture of an individual's chromosomes to look for any genetic abnormalities.



It is important to note that these tests are not always 100% accurate and may not detect all cases of triple x syndrome. Thus, seeking a medical evaluation is crucial to determining the optimal approach to deal with this condition.

All in all, triple x syndrome can be diagnosed through various medical procedures, including prenatal testing, cytogenetic analysis, fish, cma, and karyotyping. A doctor should be consulted for a complete evaluation to determine the best course of action.

What is the cure for this condition?

Unfortunately, there is currently no cure for triple x syndrome, also known as trisomy x. This is a genetic condition that affects individuals for their entire lives. However, with proper medical care and support, individuals with triple x syndrome can lead healthy and fulfilling lives.

The management of triple x syndrome focuses on addressing the various symptoms and health risks associated with the condition. This may include physical therapy to help with weak muscle tone and coordination, speech therapy to address any speech delays, and counseling to address any mental health concerns.

It is important for individuals with triple x syndrome to receive regular medical care and monitoring to help manage any health problems and to receive the support they need to live healthy and productive lives. This may involve seeing a specialist, such as a geneticist, endocrinologist, or psychologist, to address specific health concerns.

On the whole, while there is no cure for triple x syndrome, with proper medical care and support, affected individuals can lead fulfilling lives. It is important for individuals with triple x syndrome to receive regular medical care and monitoring to help manage any health problems and to receive the support they need to live healthy and productive lives.

Conclusion:

Triple x syndrome is a genetic disorder primarily affecting females, characterized by the presence of an additional x chromosome. The symptoms and health problems associated with the condition can vary greatly, but with proper medical care and support, individuals with triple x syndrome can lead fulfilling lives.

It is important for women with triple x syndrome to receive regular medical care and monitoring to help manage any health problems and to receive the support they need to live healthy and productive lives. Additionally, we hope this article was informative and answered all your questions about triple x syndrome. That said, if you have further questions, don't hesitate to reach out.

Lipid myopathies (lm) are a group of muscular diseases with onset in all ages, due in most cases to enzymatic errors of lipid metabolism. Lm often, but not always, are characterized by lipid storage in muscle biopsy. Immunomodulatory/immunosuppressant drugs such as methotrexate, cyclosporine, tacrolimus, azathioprine, mycophenolate, rituximab and intravenous (ivig) or subcutaneous (subqig) immunoglobulin. Corticosteroids such as prednisone or methylprednisolone.

Dear user, there is no study that shows the covid vaccine is a contraindication for g6pd deficiency. The vaccines are safe and should not have any side effects. However the strict diet and medication to be avoided have to be continues. You can consult me for more doubts regarding this online by clicking on my photo and booking an appointment however, if you found my answer helpful, please leave a positive feedback as it helps me with my practice. Thank you.

If a child is suffering from a congenital heart defect, it means that the child is born with a heart defect. Some of the heart problems are simple and don t need treatment, while some are very complex and may need multiple surgeries depending on the prevailing heart condition.

Symptoms of Heart Defects-

The symptoms in children with serious heart defects depend on the type of congenital heart disease. Symptoms that a child can show are:

Breathing problem while feeding the baby

Frequent cough and cold

Poor weight gain/weight loss

Sweating over forehead during feeding

Pale grey or bluish skin especially on crying

Swelling in some areas like legs etc. in heart failure like situations


To mention a few the symptoms in children with less serious heart defects are not identified until childhood as in some cases, the child might not have the symptoms shown so early.

Feeling short of breath during an activity

Tiredness

Faintness

Swelling in some body parts


Causes of Heart Defects-

The heart of the foetus begins to take shape during the first six weeks of pregnancy. The heart also starts beating. During this time, the major blood vessels of the heart that carry blood back and forth also start developing.

At this point, the problem starts to occur and defects start developing in the heart of the child. Still, the doctors are not sure about the cause of the defects, but they believe its genetic.



Types of Heart Defects-

Some of the common heart defects include:

1. Holes in the Heart (ASD/VSD/PDA/AVSD)-

Holes can be formed between the chambers or major blood vessels.

Holes allow rich oxygen blood to mix up with poor oxygen blood.


2. Cyanotic heart diseases (TOF, TGA, Ebstein s, etc)-

In these heart diseases, child generally has bluish-blackish discoloration of fingers or lips


3. Obstructed Blood Flow (AS/PS/COA)-

In this type of problem, the heart valves/heart vessels are narrow because of the defect; this causes the heart to pump harder.

This can lead to enlargement of the heart. How to diagnose child heart diseases?

Even in pregnancy, these heart diseases can be easily diagnosed by doing Fetal Echocardiogram . This test is like a routing ultrasound but focuses only on the fetal heart in detail. Fetal echo is generally done between 18-24 weeks but can be done in late pregnancy as well.

After birth of the child, we need to do Pediatric Echocardiogram (just like an ultrasound). This is a non-invasive test with no pain to the child.

By doing an echocardiogram, we can diagnose almost every child heart diseases.

Sometimes, Cardiac cath study or CT angio of heart needs to be done for confirming the diagnosis.



Treatment-

1. Some heart defects do not need any treatment as they get cured itself within a span of time.

2. However, some are serious which need to be taken care of

3. Treatment can be done either by medicines or by doing angiographic procedure or by doing open heart surgeries

4. Now a day, majority of child heart diseases like ASD, VSD, PDA, Aortic or pulmonary stenosis or coarctation of aorta, excess fluid collection around heart can be managed in cath lab by doing angiography.

5. Other cardiac diseases like large VSD/PDA/ASD, TOF, TGA, Truncus, HLHS/Tricuspid Atresia needs open heart surgery.

6. Pediatric cardiac surgery or cath lab procedures are very safe now a day.


Precautions-

As the reason is still unknown for the defects in the heart, it is not possible to prevent these conditions. But there are some ways that can reduce the overall risk that builds heart disease. Some of them are:

Get a Rubella Vaccine: A rubella infection at the time of the pregnancy can affect the child s heart development. Women should get the vaccination before they try to conceive.

Control Chronic Medical Conditions: If someone is suffering from diabetes, regular check-up of the blood sugar may reduce heart defects. If a person is suffering from any other disease, consult it with the doctor.

Take Multivitamin with Folic Acid

If you are carrier or one copy of defective gene and your husband is also carrier or one copy of defective gene then your baby has chance of glutaric acidemia type 1. if you husband is normal then baby will be normal

It is autosomal dominant meaning 50 % of children have chance to get same. Evidence shows that the syndrome is associated with an increased risk of extraintestinal malignancy, especially carcinomas of the pancreas, breast, and reproductive organs.

Delusional disorder refers to the condition in which an individual experiences non-bizarre delusions that are beliefs in things that aren't actually true. The delusions involve situations that take place in real life like being deceived or stalked, conspired against, etc but in actuality, these situations may be highly exaggerated or not true at all as they involve the misinterpretation of experiences or observations. This health problem tends to take place during the middle or later part of your life and is said to affect women more than men.

What are the symptoms associated with this condition?

There are certain signs that you can look out for to easily identify this condition and there are:



Delusional thoughts lasting one month and above
Lack of schizophrenia symptoms except delusions associated with the olfactory and tactile systems
One's behavior and normal functioning doesn't witness any kind of impairment
Duration of mood symptoms is short compared to the length of the delusions
Disorder is not brought on by the use of substances or any medical condition
Commencement of the disorder can vary from teenage years to later part of adulthood
What causes it to happen?
The root cause of the disorder is still not known, but experts are of the opinion that a variety of biological, genetic, environmental and psychological factors can cause it to occur.

Some of these causes include:

Genetics: It's said that this disorder can be passed on from parents to children. Additionally, it's more common in individuals whose family members suffer from schizophrenia or one of its types.
Psychological/ environmental: In addition to drug and alcohol abuse, delusional disorder can also be set off by stress.
Biological: Abnormalities in certain parts of the brain can lead to this problem. Areas of brain associated with thinking and perception have been found to be connected to delusional symptoms.

Ever wondered why you needed to share your family s health history at a doctor s clinic? Specific questions regarding health issues of your immediate family or close blood relatives give your doctor an insight into various health risks you might have now or in future. Those are medical conditions inherited by parents or grandparents through genes. Genes are passed from parents to children in DNA of eggs or sperms. Even a single mutation (fault) in gene can influence body systems and may lead to disorders. If any of the parents have a faulty gene, there are 50:50 chances of the child inheriting it.

Hereditary heart diseases are also a result of mutation in one or more genes and tend to run in families. Genes control almost all aspects of cardiovascular system including strengthening blood vessels, pumping capacity or communication of cells in the heart. A single genetic variation is enough to alter cardiovascular processes increasing the risk of developing a heart disease, attack or a stroke. Some of the most common hereditary cardiac disorders include; Arrhythmias, congenital heart diseases and cardiomyopathy. A family history of heart attack or stroke is also an established high-risk factor for the family members. High blood cholesterol, medically known as familial hypercholesterolemia also tends to run in families.

Unfortunately, many of these conditions cannot be prevented since they are acquired through genes. But there are many ways in which these could be managed before they become complicated or fatal.

Let s look at some ways by which we can deal with hereditary heart diseases and increase a patient s chances of survival:

Early Diagnosis And Treatment: When one person in the family is diagnosed with a heart disease, it is strongly advisable for other family members to go in for screening. An early diagnosis can help in better treatment and management of the disease and impacts positively on patients life. Medical screening of siblings is highly recommended in case a person suffers a sudden cardiac death especially at a young age.

Watch out for these symptoms at a young age: Abnormal heart rhythm, asthma that does not get better with inhaler, seizures that do not improve with medication, extreme fatigue or shortness of breath are warning signals and need immediate medical attention.

Genetic Testing: Family members may opt for genetic testing to check if they carried genes of an inherited disorder.

Genetic Counselling: Genetic counselling deals with problems like anxieties and fear of attacks, confusion over disease and emotional difficulties in accepting the situation.

We may not be able to change the family history but we can surely change our environment, lifestyle and habits. Eating healthy and following an active lifestyle does help in prevention and management of such diseases.

Prenatal Diagnosis is the diagnosis of the fetus or unborn baby. By prenatal diagnosis, doctors examine the developing baby. There are two main methods for prenatal diagnosis, Chorionic Villus Sampling (CVS), and Amniocentesis. However, the prenatal diagnosis consists of several tests which help doctors to find out the genetic disorder of the fetus.

According to many studies, some parents are at higher risk of having a baby with a genetic problem or disorder. Due to this reason, it is advisable to diagnose a baby before birth so that parents can be aware of the problem and manage it efficiently. These diagnostic tests will help parents to take better decisions for the health of their baby.

Prenatal diagnosis is also necessary as there are problems which can be treated before the birth of the baby. However, other problems need immediate attention after the delivery.

Benefits of Prenatal Diagnosis -

Prenatal Diagnosis is beneficial for:

Managing the duration of the pregnancy

Preparing for possible difficulties during pregnancy or with the birth process

Determining the consequence of the difficult pregnancy

Planning for diseases/problems/disorders that may occur in the infant

Detecting conditions that may influence future pregnancies

Determining whether to continue the pregnancy

Test for Prenatal Diagnosis -

Amniocentesis

Chorionic villus sampling

Ultrasonography

Maternal serum beta-HCG

Fetal blood cells in maternal blood

Pregnancy-associated plasma protein A

Maternal serum unconjugated estriol

Inhibin A

Maternal serum alpha-fetoprotein

What is Amniocentesis?

Amniocentesis is an invasive method and usually performed during 14 and 20 weeks of the pregnancy. In this procedure, a needle is inserted into the amniotic cavity of the uterus through the lower abdomen. Before performing Amniocentesis, an ultrasound is done to determine the gestational age, see if there is sufficient amniotic fluid present, and check the location of the placenta and fetus. With the help of injection, doctors withdraw a small amount of amniotic fluid and send it in the laboratory to test:

Infection

Genetic abnormalities

Signs for lung development

Chorionic Villus Sampling (CVS) -

Chorionic Villus Sampling or CVS is one of the methods in the Prenatal diagnosis process in which a catheter is inserted into the uterus through the vagina and cervix. It is done to withdraw the placental chorionic villi cells. After that, the cells examined and analyzed by different techniques. CVS usually performed during the 9.5 to 12.5 weeks of pregnancy. Generally, the cells withdraw in CVS is for chromosome analysis to find out the karyotype of the fetus.

Techniques Used for Pathologic Examination

These are some of the techniques used in the pathology to determine the problems and issues of the fetus:

Gross Examination

Microscopic Examination

Radiography

Microbiologic Culture

Karyotyping

Fluorescence in Situ Hybridization (FISH)

DNA Probes

Flow Cytometry

Biochemical Analysis

Electron Microscopy (EM)

Take Away -

Prenatal diagnosis is very important as it gives an idea about the pregnancy complications and future complication that a child may suffer. This also helps in curing and treating the problems during fetal development.

Medical genetics is a branch of medicine that involves identifying the cause of human biological variation. Medical genetics help to determine the health and disease of a person which are hereditary in nature. It involves the study and counseling about the pathogenesis, etiology, and natural history of disorders and diseases that originate genetically.

Medical genetics is different from human genetics in the way that human genetics involves the research and scientific study of the genome structure that may or may not suggest medicine practice. However, medical genetics is related to the application of genetic studies to medical care.

Both human genetics and medical genetics consider the analysis of the causes and inheritance of genetic disease. However, the diagnosis, treatment, management of the genetic disease is considered only in medical genetics.

Genetic Study and Genetic Medicine -

The term genetic medicine is new in medical genetics that includes areas such as personalized medicine, gene therapy, and predictive medicine. This personalized medical care is attained by the genetic study of the individual. Medical genetics incorporates different fields such as genetic counselors, clinical physicians, and nutritionists. The clinical laboratory activities involved in the diagnosis, analysis, and research about the genetic structure help to determine the causes of genetic diseases.

Genetic Disorders Related to Medical Genetics -

There are certain conditions generally relates to the issues or abnormalities of the genetic structure in an individual which are called genetic disorders. Some common genetic disorders that are studied within the scope of medical genetics include:

Dysmorphology

Birth defects

Mental retardation

Mitochondrial disorders

Autism

Skeletal dysplasia

Cancer genetics

Connective tissue disorders

Prenatal diagnosis

Teratogens

Genetic Counselling -

Medical genetics also includes a process in which information about the conditions related to genetic structure, diagnostics, and the potential threat to other members of the family. This process is called Genetic Counselling. This is performed by experts who are a non-physical member in the team of medical genetics. These experts provide a family risk assessment and counsel about potential dangers to the members of the family who has genetic disorders. They provide counseling personalized on the basis of the genetic disorder.

Take Away -

Medical Genetics is a medicinal branch that deals with the diagnosis, treatment, and of the conditions related to hereditary disorders. The hereditary disorders are generally the abnormalities in the genome structure that run in a family. Some common genetic disorders that are diagnosed and treated with the help of medical genetics are mental retardation, autism, skeletal dysplasia, cancer genetics and such others. Apart from genetic disorders, medical genetics is now becoming increasingly common in dealing with various common diseases such as endocrine, neurologic, cardiovascular, ophthalmologic, pulmonary, dermatologic, and psychiatric conditions.

Medical genetics involves the clinical diagnosis and treatment of genetic disorders. Not only the physical treatment, but medical genetics also involves the treatment of such genetic disorders by the non-physical team of medical genetics called genetic counselors.