DOC MY CHILD HAS TURNER'S SYNDROME
Turner's Syndrome is an inherited disorder of the sex chromosone in which one of the X chromosone is missing(XO)
It occurs in females and is associated with amenorrhea and infertility.
The Causes of Turner's Syndrome:
It is an inherited disease caused by a missing X sex chromosone(XO) during cell division.
It occurs in 1 :2000 females births.
Normal females have two of the X sex chromosomes (XX)
Variations include mosaicism(XX/XO)
The ovary formation is affected result in streak ovaries and low estrogen production.
The symptoms of Turner's Syndrome are:
In infants there may signs of :
1.wide and webbed neck
2.swelling of feet and hands
Symptoms in older females:
1.short stature females
2.distinct facial features with small jaws, ptosis, low set ears, short neck
3.broad shield like chest with small nipples
4.amenorrhea
5.infertility
6.sparse pubic hairs
7.Vaginal dryness
8.short fourth metacarpals
9.wide carrying angle of arm
10.autoimmune thyroid disease
11.abnormal urograms -horseshoe kidneys
12.heart problems like coarctation of aorta and bicuspid aortic valves
The diagnosis of Turner's Syndrome:
Diagnosis of Turner's Syndrome is often based on
1. medical examination and appearance
2. buccal smear for cells to test for chromosones
3.karyotyping
4.blood test for estrogen (low), follicle stimulating hormone(raised), luteinizing hormones (raised or normal)
5.Thyroid level may be low
TSH high
6.X-rays for cardiac and urinary abnormalities
7.ECG
8.MRI of the chest
9.Ultrasound of the kidneys
10.Pelvic examination
The complications of Turner's Syndrome are:
1. infertility
2. Arthritis
3. Cataracts
4. Diabetes
5. Hashimoto's thyroiditis
6. Heart defects and coarctation of aorta
7. High blood pressure
8. Kidney problems
9. Middle ear infections
10. Obesity
The treatment of Turner's Syndrome:
1.female hormone treatment from the age of puberty
This may help to trigger the growth of breasts, pubic hair, and other sexual characteristics of a female giving her confidence.
Thyroxine may be given for low thyroid hormones.
2.therapeutic support from:
a.physical
b.psychological
c.speech
d.occupational
e.behavioral therapists
3.Educational treatments:
a.Special services by special needs teachers to build up confidence in the child
b.Making tasks simpler by breaking up big tasks into smaller simpler tasks
Women with Turner syndrome may consider using a donor egg if they wish to be pregnant.
The prognosis of Turner's Syndrome:
1.Short stature may not be changed
2.infertility even with treatment
3.Can lead normal life with treatment
Prevention of Turner's Syndrome:
Genetic counseling and testing for Turner's Syndrome
Thursday, August 11, 2011
Wednesday, August 10, 2011
A Simple Guide to Amblyopia
A Simple Guide to Amblyopia
------------------------------
What is Amblyopia?
---------------------
Amblyopia, commonly known as ‘lazy eye’, is reduced visual acuity in one eye that appears normal on examination.
It usually develop during early childhood.
If left untreated, amblyopia will usually continue into adulthood.
What are the Causes of Amblyopia?
----------------------------------
1. Squint
Squint or misalignment of the eyes occurs when one eye is looking straight and the other is looking in another direction.
The vision from the deviating eye is suppressed.
The part of the brain that receives the vision from the deviating eye does not develop normally.
Therefore there is a severe reduction of vision in the deviating eye.
2. Different refractive powers of the eyes
A significant difference in the degree of short-sightedness, long-sightedness or astigmatism between the two eyes may result in failure to form clear image in the eye with the greater refractive error resulting in Amblyopia.
3. Blurred vision in one eye
This occurs with:
1.An opaque cornea
2.Cataract
3.Drooping upper eyelids due to weakness of the muscles that lift the eyelids
4.Eye trauma or eye surgery
5.Toxic causes such as arsenic, lead, smoking,vitamin B1 and B12 deficiency
6.Neurological causes are chiasmal lesions in the brain
7.Amaurosis: complete loss of vision in one eye occurs in uremia, nephritis and eclampsia
8.Psychological causes like hysteria
Symptoms may include:
1.decreased vision in one eye
2.squint
3.drooping eyelid
Diagnosis and Early detection
1.Amblyopia in young children can only be discovered if vision in each eye is tested separately.
Treatment is usually more successful if amblyopia is detected early especially before the age of four.
2.regular eye and vision tests should be done by the family doctor, paediatrician or ophthalmologist.
Treatment
1.underlying conditions causing the ‘lazy eye’ such as refractive errors, drooping eye lid or squint should be treated.
2.The main purpose of treatment is to cause the part of the brain that reads images from the ‘lazy eye’ to work more harder to read images than the better eye.
The earlier the treatment is started, the better is the results.
Once the child is over 8 years of age, he/she may not respond well to treatment, resulting in permanently impaired vision.
Treatment can be given in two ways:
1.Eye Patch
An opaque, adhesive patch is worn over the better eye for weeks to months. This treatment forces the child to use the weaker eye and stimulate the brain to read the images in the weaker eye.
The main problem with the eye patch is that no child likes to have his eye patched. Parents need to ensure that the eye patch is worn properly as advised by the eye doctor.
2.Atropine eye drops
In some cases where the child cannot tolerate eye patches, a drop of atropine is instilled in the stronger eye once a day to blur the vision temporarily in order that the child will prefer to use the ‘lazy eye’.
Prognosis:
Amblyopia if left untreated can lead to loss of vision in the ‘lazy eye’.
Even with treatment 1% - 2% of the population will remain amblyopic. This occurs especially if:
1.the amblyopic stimuli is excessive
2.detection of amblyopia is too late;
3.the child responds poorly to treatment.
Even with one good eye the child can go about his life provided he/she takes good care of the good eye and protect it from harm.
------------------------------
What is Amblyopia?
---------------------
Amblyopia, commonly known as ‘lazy eye’, is reduced visual acuity in one eye that appears normal on examination.
It usually develop during early childhood.
If left untreated, amblyopia will usually continue into adulthood.
What are the Causes of Amblyopia?
----------------------------------
1. Squint
Squint or misalignment of the eyes occurs when one eye is looking straight and the other is looking in another direction.
The vision from the deviating eye is suppressed.
The part of the brain that receives the vision from the deviating eye does not develop normally.
Therefore there is a severe reduction of vision in the deviating eye.
2. Different refractive powers of the eyes
A significant difference in the degree of short-sightedness, long-sightedness or astigmatism between the two eyes may result in failure to form clear image in the eye with the greater refractive error resulting in Amblyopia.
3. Blurred vision in one eye
This occurs with:
1.An opaque cornea
2.Cataract
3.Drooping upper eyelids due to weakness of the muscles that lift the eyelids
4.Eye trauma or eye surgery
5.Toxic causes such as arsenic, lead, smoking,vitamin B1 and B12 deficiency
6.Neurological causes are chiasmal lesions in the brain
7.Amaurosis: complete loss of vision in one eye occurs in uremia, nephritis and eclampsia
8.Psychological causes like hysteria
Symptoms may include:
1.decreased vision in one eye
2.squint
3.drooping eyelid
Diagnosis and Early detection
1.Amblyopia in young children can only be discovered if vision in each eye is tested separately.
Treatment is usually more successful if amblyopia is detected early especially before the age of four.
2.regular eye and vision tests should be done by the family doctor, paediatrician or ophthalmologist.
Treatment
1.underlying conditions causing the ‘lazy eye’ such as refractive errors, drooping eye lid or squint should be treated.
2.The main purpose of treatment is to cause the part of the brain that reads images from the ‘lazy eye’ to work more harder to read images than the better eye.
The earlier the treatment is started, the better is the results.
Once the child is over 8 years of age, he/she may not respond well to treatment, resulting in permanently impaired vision.
Treatment can be given in two ways:
1.Eye Patch
An opaque, adhesive patch is worn over the better eye for weeks to months. This treatment forces the child to use the weaker eye and stimulate the brain to read the images in the weaker eye.
The main problem with the eye patch is that no child likes to have his eye patched. Parents need to ensure that the eye patch is worn properly as advised by the eye doctor.
2.Atropine eye drops
In some cases where the child cannot tolerate eye patches, a drop of atropine is instilled in the stronger eye once a day to blur the vision temporarily in order that the child will prefer to use the ‘lazy eye’.
Prognosis:
Amblyopia if left untreated can lead to loss of vision in the ‘lazy eye’.
Even with treatment 1% - 2% of the population will remain amblyopic. This occurs especially if:
1.the amblyopic stimuli is excessive
2.detection of amblyopia is too late;
3.the child responds poorly to treatment.
Even with one good eye the child can go about his life provided he/she takes good care of the good eye and protect it from harm.
Tuesday, August 9, 2011
A Family Doctor's Tale - KLINEFELTER'S SYNDROME
DOC MY CHILD HAVE KLINEFELTER'S SYNDROME
Klinefelter's Syndrome is an inherited disorder of the sex chromosone in which an extra X chromosone is present(XXY).
It is named after Dr. Henry Klinefelter.
It occurs in males 1:500 and is associated with hypogonads and infertility.
The Cause of Klinefelter's Syndrome are:
It is an inherited disease caused by an extra X sex chromosone(XXY).
Variations include XXXY and mosaicism(XY/XXY)
The testis formation is affected result in hypogonadism and low testosterone production.
The symptoms of Klinefelter's Syndrome are:
Symptoms:
A.Physical Development:
As babies, they have weak muscles and reduced strength resulting in later development in walking and crawling.
After 4 years of age, they are usually:
1.taller with long legs
2.less muscular body
3.testes are small,insensitive and firmer than usual
4.Penis is small
5.gynecomastia in 50 per cent
6.less facial and body hair
7.Sexual desire and ability to have erections impaired
8.infertility
B.Language Development:
About 25- 75 per cent of the boys has some language problem:
1.difficulty in speech
2.difficulty in expression
3.difficulty in reading
4.difficulty in comprehension
C.Social Development:
1.quiet and unassuming
2.helpful
3.obedient
4.less assertive
5.less self confidence
In spite of these, they have very often normal social relationships
Diagnosis of Klinefelter's Syndrome is often based on
1. medical examination and appearance of the boy
2. buccal smear for cells to test for chromosones
3.karyotyping
4.blood test for testosterone (low), follicle stimulating hormone(raised), luteinizing hormones (raised or normal)
The complications of Klinefelter's Syndrome are:
1. infertility
2. erectile dysfunction
3.autoimmune disorders,
4.breast cancer,
5.vein diseases,
6.osteoporosis
The treatment of Klinefelter's Syndrome is:
There is no way the chromosomes can be changed however there are treatments to relieve the symptoms and improve the lives of these males.
A.Medical treatments:
1.Male hormone replacement treatment can increase the testosterone hormones to normal level for the males starting from puberty.
There may be improvement in muscle mass and more facial and body hairs.
2.mastectomy may be needed for obvious gynecomastia
3.therapeutic support from:
a.physical
b.psychological
c.speech
d.occupational
e.behavioral therapists
C.Educational treatments:
1.Special services by special needs teachers to build up confidence in the child
2.Making tasks simpler by breaking up big tasks into smaller simpler tasks
The prognosis of Klinefelter's Syndrome is:
1.infertility may occur even with male hormone treatment.
2.However there may be improved self confidence and more muscular body.
Prevention of Klinefelter's Syndrome :
Genetic counseling and testing for Klinefelter's Syndrome
Klinefelter's Syndrome is an inherited disorder of the sex chromosone in which an extra X chromosone is present(XXY).
It is named after Dr. Henry Klinefelter.
It occurs in males 1:500 and is associated with hypogonads and infertility.
The Cause of Klinefelter's Syndrome are:
It is an inherited disease caused by an extra X sex chromosone(XXY).
Variations include XXXY and mosaicism(XY/XXY)
The testis formation is affected result in hypogonadism and low testosterone production.
The symptoms of Klinefelter's Syndrome are:
Symptoms:
A.Physical Development:
As babies, they have weak muscles and reduced strength resulting in later development in walking and crawling.
After 4 years of age, they are usually:
1.taller with long legs
2.less muscular body
3.testes are small,insensitive and firmer than usual
4.Penis is small
5.gynecomastia in 50 per cent
6.less facial and body hair
7.Sexual desire and ability to have erections impaired
8.infertility
B.Language Development:
About 25- 75 per cent of the boys has some language problem:
1.difficulty in speech
2.difficulty in expression
3.difficulty in reading
4.difficulty in comprehension
C.Social Development:
1.quiet and unassuming
2.helpful
3.obedient
4.less assertive
5.less self confidence
In spite of these, they have very often normal social relationships
Diagnosis of Klinefelter's Syndrome is often based on
1. medical examination and appearance of the boy
2. buccal smear for cells to test for chromosones
3.karyotyping
4.blood test for testosterone (low), follicle stimulating hormone(raised), luteinizing hormones (raised or normal)
The complications of Klinefelter's Syndrome are:
1. infertility
2. erectile dysfunction
3.autoimmune disorders,
4.breast cancer,
5.vein diseases,
6.osteoporosis
The treatment of Klinefelter's Syndrome is:
There is no way the chromosomes can be changed however there are treatments to relieve the symptoms and improve the lives of these males.
A.Medical treatments:
1.Male hormone replacement treatment can increase the testosterone hormones to normal level for the males starting from puberty.
There may be improvement in muscle mass and more facial and body hairs.
2.mastectomy may be needed for obvious gynecomastia
3.therapeutic support from:
a.physical
b.psychological
c.speech
d.occupational
e.behavioral therapists
C.Educational treatments:
1.Special services by special needs teachers to build up confidence in the child
2.Making tasks simpler by breaking up big tasks into smaller simpler tasks
The prognosis of Klinefelter's Syndrome is:
1.infertility may occur even with male hormone treatment.
2.However there may be improved self confidence and more muscular body.
Prevention of Klinefelter's Syndrome :
Genetic counseling and testing for Klinefelter's Syndrome
Sunday, August 7, 2011
A Family Doctor's Tale - VINCENT'S ANGINA
DOC I HAVE VINCENT'S ANGINA
Vincent's Angina is the non contagious infection affecting the interdental papillae named after Dr. Henri Vincent .
It extends to the gums causing necrotizing ulcerative gingivitis .
It is also known as Trench Mouth because of the smell from the mouth.
The cause of Vincent's Angina:
Vincent's Angina is caused by bacteria which are anaerobes such as fusiform bacteria as well as spirochete such as treponema.
Vincent's Angina can occur in the mouth as a result of:
1.poor oral hygiene
2.nutritional deficiency
3.blood dyscrasias
4.debilitating diseases
5.heavy smoking
The Symptoms of Vincent's Angina are:
1.malaise, loss of appetite and weight loss
2.Painful bleeding gums
3.unpleasant breath or halitosis
4.increased saliva production
5.ulcers on the mucosa of mouth have
a.punched out appearance,
b.covered by greyish membrane
c.bleed easily
d.affects neighboring gums
6.local lymph node enlargement
Diagnosis of Vincent's Angina:
Vincent's Angina is diagnosed by:
1.Dental examination .
2.buccal smear for culture and sensitivity of micro-organisms to antibiotics
Complications of Vincent's Angina:
If untreated, Vincent's Angina can lead to the following complications:
1.Destruction of the periodontium
2.necrotizing stomatitis
3.destruction of cheek tissues, lip mucosa and underlying jaw bone
Treatment of Vincent's Angina:
1.good oral hygiene
a.Brushing teeth twice a day with fluoride toothpaste.
b.Cleaning between teeth daily with floss.
2.dental debridement (cleaning and removal of debris)
3.mouth washes especially after eating food
4.Antibiotics -penicillin or erythromycin may be necessary to clear infection
5.avoid smoking
6.treatment of underlying diseases
Prognosis of Vincent's Angina:
good with proper dental treatment
Prevention of Vincent's Angina:
1.proper nutrition
2.good oral hygiene
3.avoid smoking
Vincent's Angina is the non contagious infection affecting the interdental papillae named after Dr. Henri Vincent .
It extends to the gums causing necrotizing ulcerative gingivitis .
It is also known as Trench Mouth because of the smell from the mouth.
The cause of Vincent's Angina:
Vincent's Angina is caused by bacteria which are anaerobes such as fusiform bacteria as well as spirochete such as treponema.
Vincent's Angina can occur in the mouth as a result of:
1.poor oral hygiene
2.nutritional deficiency
3.blood dyscrasias
4.debilitating diseases
5.heavy smoking
The Symptoms of Vincent's Angina are:
1.malaise, loss of appetite and weight loss
2.Painful bleeding gums
3.unpleasant breath or halitosis
4.increased saliva production
5.ulcers on the mucosa of mouth have
a.punched out appearance,
b.covered by greyish membrane
c.bleed easily
d.affects neighboring gums
6.local lymph node enlargement
Diagnosis of Vincent's Angina:
Vincent's Angina is diagnosed by:
1.Dental examination .
2.buccal smear for culture and sensitivity of micro-organisms to antibiotics
Complications of Vincent's Angina:
If untreated, Vincent's Angina can lead to the following complications:
1.Destruction of the periodontium
2.necrotizing stomatitis
3.destruction of cheek tissues, lip mucosa and underlying jaw bone
Treatment of Vincent's Angina:
1.good oral hygiene
a.Brushing teeth twice a day with fluoride toothpaste.
b.Cleaning between teeth daily with floss.
2.dental debridement (cleaning and removal of debris)
3.mouth washes especially after eating food
4.Antibiotics -penicillin or erythromycin may be necessary to clear infection
5.avoid smoking
6.treatment of underlying diseases
Prognosis of Vincent's Angina:
good with proper dental treatment
Prevention of Vincent's Angina:
1.proper nutrition
2.good oral hygiene
3.avoid smoking
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