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Rubinstein-Taybi Syndrome Health Feed

Crest Syndrome!

Dr.Radhika A (Md) 89% (13ratings)
MD - Acupuncture, Diploma In Accupuncture, Advanced Diploma In Accupuncture
Acupuncturist, Delhi
Crest Syndrome!

Treatment of CREST syndrome

Homeopathic Treatment of CREST syndrome
Acupuncture & Acupressure Treatment of CREST syndrome
Psychotherapy Treatment of CREST syndrome
Conventional / Allopathic Treatment of CREST syndrome
Surgical Treatment of CREST syndrome
Dietary & Herbal Treatment of CREST syndrome
Other Treatment of CREST syndrome
What is CREST syndrome
Symptoms of CREST syndrome
Causes of CREST syndrome
Risk factors of CREST syndrome
Complications of CREST syndrome
Lab Investigations and Diagnosis of CREST syndrome
Precautions & Prevention of CREST syndrome
Treatment of CREST syndrome 

Homeopathic Treatment of CREST Syndrome

Homeopathy heals and helps in regaining healthy skin. It treats the person as a whole. Treatment is constitutional. It means that homeopathic treatment focuses on the patient as a person, as well as his pathological condition. It balances the energy system, improves immunity and body functions. It naturally cures the root cause of disorder. Some of the homeopathic medicines for treatment of CREST syndrome are:

Barc C
Grapg
Sepia
Ipecac
Sulph

Conventional / Allopathic Treatment of CREST syndrome

Allopathic Treatment of CREST syndrome involves the following medications:

Blood pressure lowering drugs
Drugs to suppress the immune system
Antacid drugs

Surgical Treatment of CREST syndrome

Surgical Treatment of CREST syndrome involves the following surgeries:

Large or painful calcium deposits are sometimes surgically removed.
Laser surgery can reduce the appearance of red spots or lines
Amputation of fingertips may be necessary if skin ulcers progress to gangrene.
 

Dietary & Herbal Treatment of CREST syndrome

Avoid sugar and white bread and other refined carbohydrates
Limit high-fat foods
Consume only unsaturated fats that are low in cholesterol
Eat whole grains
Eat lots of fruits and vegetables
Avoid spicy or fatty foods, chocolate, caffeine, and alcohol
What is CREST syndrome

CREST syndrome, is one subtype of scleroderma, a condition that literally means hardened skin.

Symptoms of CREST syndrome 

Tight, hardened skin
Red spots or lines on skin
Raynaud’s phenomenon
Bumps under the skin
Difficulty swallowing
Causes of CREST syndrome

The immune system appears to stimulate the production of too much collagen. This overproduction of collagen builds up in the skin and internal organs, impairing their function.

Risk factors of CREST syndrome

Being women women of African descent
Rheumatoid arthritis or Hashimoto’s disease
Exposure to toxins

Complications of CREST syndrome

Lung damage
Gastrointestinal problems
Heart problems
Dry eyes and mouth
Dental problems
Ulcers on fingers and toes

Diagnosis of CREST syndrome

Diagnosis of CREST syndrome involves the following tests:

Blood test for antibodies
Skin biopsy

Precautions & Prevention of CREST syndrome

There is no known prevention. You can take some precautions to avoid complications:

Do not smoke
Eat small, frequent meals
Don’t exercise immediately before or after eating
Avoid harsh soaps and detergents
Practice good oral hygiene
Apply sunscreen before you go outside

1 person found this helpful

Premenstrual syndrome

Dr.Kamaksha Prasad 91% (2242ratings)
MBBS
Sexologist, Howrah
Premenstrual syndrome

Nearly all women suffer some mood changes/breast pain/abdominal pain/hot flushes headache, fatigue, insomnia, bloating, uncontrollable food cravings, irritability, depression, feelings of loneliness, rejection … days just before their periods. sexual desires also change in those days. so, irritation/ feel of unsatisfaction wipes off the peace of mind...
it's due to sex hormone changes in your body during that time mainly estrogen & FSH. 
try to control your emotion by doing yoga- it acts as a miracle. eyes closed & deep breathing in & out in the early morning makes you calm & control your sex steroid releasing hormones through hypothalamus.slow body twisting improves your circulation in lower abdominal organs.
for abdominal/breast pain-try to use home remedies like cold compress/ cold cod oil massage.
diet- raw onion and pumpkin seeds. flaxseed oil, evening primrose oil lavender and tea in the evening. try to have vegetables and fish- avoid meats.
**do not let your hormones to control your mind** 
in severe cases, you may need medicines, consult your physician- we are always there to solve your problems.

184 people found this helpful

Know Everything About Asperger's Syndrome!

Ms.Parveen 92% (138ratings)
Bachelors In Psychology, Masters In Psychology, Post Graduate Diploma In Guidance & Counselling, Internship in clinical psychology
Psychologist, Jalandhar
Know Everything About Asperger's Syndrome!

Asperger's Syndrome has recently come under the umbrella of Autism Spectrum Disorder. This syndrome usually affects the social skills of the patient, most heavily. The patient may seem normal and even intelligent at first glance. But on closer interaction, several social skill problems will come to the fore including an obsessive focus on certain topics and issues. Repetitive behaviour is also a part of this disease.

Let us find out more about Asperger's Syndrome:

  • Symptoms: The symptoms usually begin to show up early on in one's childhood. The patient will not be able to make eye contact while speaking with others. Also, a perfectly normal person may seem inordinately shy and reserved during social interactions. This awkwardness may come to the fore in the form of looking for expression cues on other people's faces and even the body language. The patient may not be a very happy and lively soul, with hardly a smile to crack at the funniest of jokes. The lack of emotions or the emotionally numb state is also a major giveaway of the condition. Other symptoms may include a strong aversion towards change in food habits and routine.
  • Diagnosis: The diagnosis is usually done by mental health specialists like a developmental paediatrician, a psychiatrist, a psychologist or even a paediatric neurologist. These specialists can put the child through a variety of tests that will study the neurological health as well as the speech and emotional behaviour of the child.
  • Educating the Parent: Once the diagnosis has been done, the parents of the patient will have to appraised of the condition and its implications. The symptoms and treatment will have to be duly discussed even as the parents are put through training and therapy to learn techniques with which they can help the child in progressing along more normal lines. The therapy will also help the parents deal with the challenge of living with someone suffering from this condition.
  • Treatment: There are varied forms of treatment that aim at fixing the specific areas and symptoms that the patient is learning to live with. Social skills training, speech and language therapy, CBT or Cognitive Behavioural Therapy and other forms of treatment can help the child overcome many symptoms that come from this condition.

In the course of the treatment, it is important for the child, parent and therapist concerned to realise that there is no single approach that can be applied to all patients suffering from Asperger's Syndrome. Individual care and therapy will be required for individual cases. At the same time, most of the skills will need to be repeated at home so that the child takes them more seriously.

2 people found this helpful

All About Klinefelter's Syndrome

Dr.Viniita Jhuntrraa 93% (747ratings)
MBBS
Sexologist, Jaipur
All About Klinefelter's Syndrome

Klinefelter's syndrome is a medical condition, in which a boy is born with an extra copy of the 'X' chromosome. Klinefelter's syndrome has an adverse effect on testicular growth and results in the formation of smaller than normal testicles. This affects the production of the sex hormone testosterone. 

It can also cause lower retention of muscle mass, facial or body hair and enlarged breast tissues. It is difficult for people who are diagnosed with Klinefelter's syndrome to father children because they produce little, or   no sperm and often has to resort to take help from assisted reproductive procedures to procreate.

Symptoms
Generally Klinefelter's syndrome is not diagnosed before adulthood because of the fact that there are few noticeable symptoms, which might indicate Klinefelter's syndrome during infancy, childhood or adolescence period. 

The few characteristics, which might indicate the condition are listed below:

  1. Development of weak muscles
  2. Taking above average time to develop basic motor skills
  3. Delaying in speaking
  4. The testicles haven't descended into the scrotum

Boys and teenagers develop the following characteristics:

  1. They tend to have longer leg and broader hips than their peers
  2. Onset of puberty is delayed or in some cases absent or incomplete
  3. After puberty, less muscular bodies and less facial and body hair compared with other teens
  4. Smaller than average size of penis

Causes

  1. Klinefelter's syndrome occurs due to the occurrence of an extra 'X' chromosome in the cells instead of the normal combination on 'XY' chromosomes. 
  2. In some severe cases, there is the occurrence of more than one extra 'X' chromosome in each cell. 
  3. This is not inherited or a genetic condition. This occurs due to a random error during the formation of the egg , the sperm or post conception.  

Diagnoses and Treatment

  1. Chromosome analysis and hormone testing are the two main ways to diagnose this condition.
  2. Abnormal hormone levels present in blood and urine, might indicate Klinefelter's syndrome.

Early diagnosis and medication minimizes the effects of Klinefelter's syndrome. These include:

  1. Testosterone replacement therapy. In treatment, testosterone is injected at regular intervals from the onset of puberty to ensure normal growth.
  2. Patients also need educational support as well as speech therapy to overcome any barriers the patient is experiencing.
  3. Removal of excess breast tissue and fertility treatment. 
  4. With the help of Intracytoplasmic Sperm injection, it is possible for patients with low sperm production to father children.
3799 people found this helpful

Klinefelter Syndrome

Dr.Sharath Kumar C 94% (1410ratings)
MBBS, M.Sc, Ph.D, FPSM, DRM, DMRD, DGLS, C.Sc, DYN
Sexologist, Bangalore
Klinefelter Syndrome

Klinefelter syndrome, also known as the xxy condition, is a term used to describe males who have an extra x chromosome in most of their cells.

Klinefelter syndrome is named after Dr. Henry klinefelter, who first described a group of symptoms found in some men with the extra x chromosome. About one of every 500 males has an extra x chromosome, but many don't have any symptoms.

Symptoms:

  • Symptoms depend on how many xxy cells a man has, how much testosterone is in his body, and his age when the condition is diagnosed.
  • As xxy males enter puberty, they may have a taller, less muscular body, less facial and body hair, and broader hips than other boys. As teens, xxy males may have larger breasts, weaker bones, and a lower energy level than other boys.
  • Xxy adult males look similar to males without the condition, although they are often taller and may have autoimmune disorders, breast cancer, vein diseases, osteoporosis, and tooth decay.

Fertility:
Xxy males can have normal or subnormal sex lives, but they usually make little or no sperm and are infertile. Some times, they are impotent also.

Treatment:

  • The xxy chromosome pattern cannot be changed. Treatments involve physical, speech, occupational, behavioral, mental health, and family therapists, and testosterone replacement therapy.
  •  Even though all men with klinefelter syndrome have the extra x chromosome, not every xxy male has all of those symptoms. 
  • Because not every male with an xxy pattern has all the symptoms of klinefelter syndrome, it is common to use the term xxy male to describe these men, or xxy condition to describe the symptoms. 
     
2 people found this helpful

How To Avoid Down Syndrome?

Dr.Sanjeev Kumar Singh 92% (193ratings)
Bachelor of Ayurveda, Medicine and Surgery (BAMS)
Ayurvedic Doctor, Lakhimpur Kheri
How To Avoid Down Syndrome?

Down syndrome is a genetic disorder that develops when an error or abnormality in the cell divisions leads to an extra copy of Chromosome 21. The condition affects a person’s physical growth and cognitive abilities, causing moderate to mild developmental issues. Many of the developmental disabilities last for a lifetime and possibly reduce life expectancy. 

One out of every 700 pregnancies results in the birth of a child with Down syndrome. Children born with this condition have distinctive features – small head, short neck, flattened face, protruding tongue, and upward slanting eyelids. 

Most often, Down syndrome is not inherited – it is rather caused by an error in the cell division during the early development of the foetus. Some parents are at a higher risk of having a child with this genetic disorder. The risk factors include –

  • Old-age pregnancyThe chances of having a baby with Down syndrome increase as you grow older. This is because the more you age, the more risk the eggs have of improper chromosome division. Studies show that the risk of conceiving a baby with this condition goes up after age 35. Nevertheless, most children with genetic syndrome are born to people below 35 years of age since younger mothers are likely to give birth to more babies.

  • Genetic predisposition to Translocation Down syndrome – Both women and men may pass the genetic translocation for the condition on to their kids.

  • Having had a baby with Down syndrome – Parents, who themselves have a translocation or have had a baby with Down syndrome, have a greater risk of giving birth to a second child with the genetic condition. 

How to prevent Down syndrome?

Down syndrome cannot be prevented. However, parents can take certain steps to lower the risk of having a child with this condition. Here are some steps to follow –

  • Plan an early pregnancy – If you wish your baby to be born healthy, it is best to start planning ahead of conception. In the majority of cases, birth defects happen during the initial 3 months of pregnancy, when the organs of the foetus are developing. Being ready from the beginning of the process can improve the chances of your baby’s good health. 

  • Avoid toxic substances – Exposure to harmful substances, such as alcohol, tobacco, drugs, as well as substances found in the workplace, home, or environment may have severe consequences on the unborn child during pregnancy. These may also affect the mother’s health and ability to give birth. The best way to avoid risks is to stave off toxic substances. For example – quitting smoking can improve the likelihood of a mother giving birth to a healthy baby and avoiding certain birth defects, such as Down syndrome. 

  • Turn to a healthy lifestyle – The health of the mother during pregnancy directly affects the health of the unborn child. There are several things, which you can do to keep yourself and your baby in the best of health during this time and lower the risk of birth defects in the baby. The key to opting for a healthy lifestyle starts with regular exercising, maintaining ideal body weight, and following a healthy diet that mainly includes vegetables, fruits, whole grains, healthy fats, lean proteins, and low-fat dairy. 

Even if you cannot prevent Down syndrome, you can certainly ensure that your child is at the minimal risk of being born with the genetic disorder by following the above precautionary measures. 

Most importantly, consult and discuss with your doctor about planning your pregnancy while you are still in your late 20s or early 30s, as well as about avoiding toxic substances, and opting for a healthy lifestyle. 

3 people found this helpful

World Down Syndrome Day Know More About It!

Dr.Sanjeev Kumar Singh 92% (193ratings)
Bachelor of Ayurveda, Medicine and Surgery (BAMS)
Ayurvedic Doctor, Lakhimpur Kheri
World Down Syndrome Day   Know More About It!

21st March is observed as World Down Syndrome Day annually all across the globe. The day marks the importance of raising awareness about the genetic disorder, Down syndrome, among the public. The General Assembly summons all organizations and the Member States of the United Nations, as well as NGOs to celebrate World Down Syndrome Day in a proper manner. 

The prevailing low expectations, negative attitudes, exclusion and discrimination ensure that those born with Down syndrome fall behind and lack opportunities to take part fully in decision making about all matters in life. This happens in society, as also within the Down syndrome community and disability community. 

At the root of this exclusion and discrimination is a lack of knowledge of the challenges people face throughout their lifetimes and the failure to back them with the tools and opportunities required to participate in a meaningful way.

The 2020 theme of World Down Syndrome Day focuses on ‘We Decide’ – everyone with Down syndrome should have complete participation in decision making regarding the matters affecting, or relating to their lives. Meaningful and effective participation is the basic human rights principle backed by the UN Convention on the Rights of Persons with Disabilities. 

As we strive to make people at large wary of Down syndrome, let us know some more about the disorder.

What is Down syndrome?

Down syndrome occurs when a child is born with an extra copy of the 21st chromosome. This is a genetic condition, which alters the course of normal development of the child, causing developmental delays and affecting their cognitive abilities. 

Characteristics of Down syndrome

Children born with Down syndrome share some common distinctive physical characteristics. 

  • Upward slanting eyelids

  • Short neck and small stature

  • Flat nose

  • A protruding tongue

  • A wide gap between the second and large toe

These people also have moderate to mild intellectual disability, for instance – learning disabilities, or delay in fine motor skills. 

Unfortunately, Down syndrome cannot be cured or prevented. However, leading a healthy lifestyle during pregnancy can help reduce the risk of having a baby with a chromosomal condition. 

Screening and Diagnosis 

Early diagnosis and screening are recommended for people at an increased risk of giving birth to a child with Down syndrome. Screening tests can evaluate the propensity of the disease being present. A few diagnostic tests can also reveal if the child will be born with Down syndrome. 

Women aged between 30 and 35 years, or above, may receive genetic testing during pregnancy since the likelihood of having a baby with the disorder increases with age. 

Living with Down syndrome

An encouraging home environment, premium educational programs, support from family, friends, and community, and good healthcare can help people with Down syndrome lead productive and fulfilling lives.  

9 people found this helpful

Know More About Metabolic Syndrome!

Dt.Neha Suryawanshi 93% (20489ratings)
M.Sc. in Dietetics and Food Service Management , Post Graduate Diploma In Computer Application, P.G.Diploma in Clinical Nutrition & Dietetics , B.Sc.Clinical Nutrition & Dietetics
Dietitian/Nutritionist, Mumbai
Know More About Metabolic Syndrome!

Know More About Metabolic Syndrome!

How Can We Diagnose Down Syndrome?

Dr.Sanjeev Kumar Singh 92% (193ratings)
Bachelor of Ayurveda, Medicine and Surgery (BAMS)
Ayurvedic Doctor, Lakhimpur Kheri
How Can We Diagnose Down Syndrome?

Down Syndrome refers to a genetic condition, where a person is born with an extra copy of a chromosome. Usually, a child is born with 23 pairs of chromosomes but those with Down syndrome are born with an additional copy of one of the chromosomes – Chromosome 21. The genetic disorder causes mental and physical disabilities and developmental delays in the child. Here we check out some tests and methods to diagnose down syndrome problems.

Types of Down Syndrome

  • Trisomy 21 – This is the most common of all three types, with an extra copy of the 21st chromosome in each cell
  • Mosaicism – This happens when the baby is born with an additional chromosome is some but not all the cells
  • Translocation – This occurs when a child is born only with one extra part of the 21st chromosome

Some parents are more likely to have a child with Down syndrome. As per the Centres for Disease Control and Prevention, pregnant women above age 35 have a higher chance of having a child with this genetic disorder, as compared to those in their late 20s or early 30s. The chances of giving birth to a child with Down syndrome rise as the mother ages. Screening during pregnancy can help you understand if your child is likely to have Down syndrome or not.

Screening of Down Syndrome During Pregnancy

Screening for Down syndrome could be a part of your routine prenatal care. If the mother is over 35 years, the father is over 40 years, or if there is a family history of Down syndrome, then you should go for an evaluation.

  • First trimester – Blood tests and ultrasound can check for the down syndrome in your foetus. These tests have a greater positive-false rate than tests performed at later stages of pregnancy. If the results are not normal, the doctor will most likely follow up with an amniocentesis after the 15th week of pregnancy.
  • Second trimester – A QMS test and ultrasound can help recognize Down syndrome, as well as other abnormalities or defects in the spinal cord and brain. The test is performed between 15 and 20 weeks of pregnancy. If the test results show some abnormality, you could be at high risk for birth defects.

Additional Prenatal Test for Down Syndrome

The doctor may recommend a few additional tests to diagnose Down syndrome in the child. These may include –

  • Amniocentesis – The test, typically performed after 15 weeks of pregnancy, involves taking a sample of the amniotic fluid to check for the number of chromosomes the baby has. 

  • CVS (Chorionic villus sampling) – The doctor takes cells from the placenta to evaluate foetal chromosomes. The test is conducted between week 9 and week 14 of pregnancy. 

  • PUBS (Percutaneous umbilical blood sampling) – For this, the doctor draws blood from the umbilical cord to check for any chromosomal defects. The test is conducted after week 18 of pregnancy. 

However, some women hesitate to undergo these tests due to an increased risk of miscarriage

Tests to Diagnose Down Syndrome at Birth 

The doctor will most likely perform the following at birth –

  • A thorough physical examination of the child

  • A certain type of blood test, known as Karyotype, to confirm the diagnosis 

Although Down syndrome cannot be cured or prevented, the risks of having a child with this genetic disorder can be reduced with some lifestyle changes. Nevertheless, if you are giving birth to a child with Down syndrome, you will need to work closely with a medical professional to understand the unique challenges of the condition.

7 people found this helpful

What is the syndrome of dengue? What is the syndrome of dengue? What is the syndrome of dengue?

MBBS
General Physician, Mumbai
What is the syndrome of dengue?
What is the syndrome of dengue?
What is the syndrome of dengue?
Fever with body pain and joint pain are few initial symptoms of dengue and to be confirmed by a blood test
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