FAQ - dyskeratosis congenita
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Do guys with arthrogryposis normally have a smaller than average penis?


Do guys with arthrogryposis multiplex congenita usually have a smaller than average penis or a micropenis?
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I don't know about normally, but a microphallus is one of the symptoms.  (+ info)

Could Epilespy be the cause of my daughter's Arthrogryposis?


From the time I was 6 to the time I was 16 I had Epilepsy. I am 19 years old almost 20, and 9 months ago I had a beautiful baby girl. (Please don't judge: I am happily married to a wonderful husband, so there was no wedlock birth) Anyways she was born with Arthrgryposis Multiplex Congenita, and I was wondering if my Epilepsy- even if I did out grow it- could have caused my daughter's Arthrogryposis.
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Do you have any other health problems or symptoms? Do any other health problems run in your family?

The reason I ask is that sometimes there are other underlying conditions that can cause both epilepsy and birth defects in your children. I wouldn't think that epilepsy would cause this if you weren't having seizures when you were pregnant and you weren't on medication for it, but if there was something else that was causing your epilepsy it can affect your child. I have a similar experience. My daughter was born with congenital birth defects (although she's fine now, and smart and beautiful and amazing!), and it wasn't until a a couple years after she was born that I found out I have celiac disease which is an autoimmune disease. I had had some random symptoms that I didn't pay much attention to, and then when I got the diagnosis, I found out that people with untreated celiac disease are more likely to have children with birth defects. Definitely make sure you are looking at possible underlying causes of your seizures if you plan on having more children. It may be random, but it's definitely worth looking into. :-)  (+ info)

Would you live in pain if you couldn't afford to go to the doctor?


Here is the situation: I have serious health problems (birth defects arthrogryposis multiplex congenita and mosaic turners syndrome) and no insurance. I have scoliosis, degenerative disc disease, bilateral hip dislocation among several other problems. The back problems have me currently suffering from pinched nerves. I am working part-time because I can't physically handle more than 25 hours a week. I make $7.50 an hour. My meger pay check barely pays my essential living expenses. I can not afford to see an orthopedic doctor, because without insurance they want payments made before the visit (at least the doctors in my town). So I know what's wrong and I know I can't afford the surgery to get better. Here is the best part.... I went to social services and tried to sign up for medicaid and I'm not eligible because I can - work even though the doctors have no idea how I am physically able to do so. I can't afford another emergency room bill... what do I do?
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i would go back to social services and apply again, the old saying goes,"the squeaky wheel gets the grease", keep telling them that you can't work much longer in pain and if that doesn't work, quit your job then they have to help you, i know it's a drastic step but you do need help, anyone can see that, good luck to you and God Bless!!!!  (+ info)

what is the cause of my absolute eosinophilia?


. I am 37 years old, single , female, , non smoker,physician.
These days I have cough, haemoptysis, with little dyspnea, I did a CBC and found marked eosinophillia 28%(1.83 x 10'9/L) . PT 12.9 sec, prothrombin conc 80% , PTT 30.3sec with some petechae on my skin.I had recurrent or nearly persistent cough for about 3.5 months with sometimes yellowish sputum . I took repeated intermittent courses of azithromycin 500mg for 3 dayswith improvement of sputum colour and re infection mostly with recurrent courses of common cold. During this week I srated to express bloody sputum which started as orange colour to be changed within 3-3 hours into bright red colour, and it is persistent now for 5 days ,but started to improve , it is not of the massive type
This is not my first time of haemoptysis.it is recurrent esp. during last 2 years frequently, last attack was about 2 months ago.
My history is some what complicated as it started 14 years ago( I was 22 years old) when I had persistent cough and localized wheezes on one side of my chest for 3 months so I sought medical advice and had a chest x ray that showed a parahilar shadow on the left side then I developed fever, and sudden haemoptysis for the first time


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I had a CBC that showed eosinophillia and
I had stool analysis showing Ascaris at that time,
I had fiberoptic bronchoscopy done and it showed normal RT side and Lt side was normal till Lt main bronchus while the LvL showed white cheesy material coming from the orifice of the basal segment of LLL with haemorrhagic very congested mucosa that bleeds on touch, biopsy and bronchial lavage were taken
Cytology revealed numerous RBCS, scattered lymphocytes and neutrophils and benign bronchial mucousal lining cells , no remarkable dyskeratosis or specific organism were detected
Histology:the bronchoscopic biopsy showed bronchial mucousa with prominent submucousal mixed inflammatory infiltrate with focal poorly defined granulomatous reaction, mild bronchial epithelial hyperplasia was noted , no malignancy was detected in the examined sections ,so the histopathologic diagnosis was: infected granulomatous lesion with abcess formation possible mycobaterial infection

I had at that time culture and direct smear investigations for TB that were negative
Culture and sensitivity test of the sputum showed staph and pneumococci.
My treating professor said: you have asthmatic pulmonary eosinophillia and I received parentral antibiotic and systemic steroid therapy low dose, levamisol for treatment of ascaris till stool analysis was negative , I improved and remined good for 5 years
After these 5 years (it was year 2000, january) I started to have dyspnea , cough , and haemoptysis, I went to my treating physician and he asked me to do chest CT with contrast , high resolution mode which showed normal density of both lungs parynchema with an illdefined small left hilar soft tissue lesion seen at the level of bifurcation of the left main bronchus with secondary partial collapse of medial part of upper segment of the lingual showing air bronchogram, the
impression was: small left hilar lesion mostly of benign nature with secondary partial collapse for bronchoscopy, my doctor did not see that there is a need for bronchosopy again. I received antibiotic and systemic steroid again and I was ok

Another CT was done after 6 months and the mass disappeared, it was normal CT, at that time CBC showed esinophillia 20% that decresed to 7% after steroid therapy(after one month)(2 x rays were done as shown below with one month interval) as I can remember,
this time stool analysis showed only entamoeba histolytica,
Urine analysis showed granular cast + , pus cells 10-12, ca oxalate +++
During the following years when I felt dyspnoea I did CBC mostly to find eosinophillia then I took systemic steroid courses up to 40 mg /day for 1 week to decrease gradually every 5 days WITHOUT CONSULTALTION OF CHEST DOCTOR , WITHOUT DOING FURTHER X RAY.
2 years ago I had acute tracheitis? Bronchitis that followed by haemoptysis at that time I had chest x ray that was normal as a chest doctor said, but I still have blood esinophillia 22% but I did not take steroid that time but only antibiotics and I was improved.
During these last 2 years I had many attacks of haeomptysis sometimes with chest infection but other times with exposure to dust e.g : during travel in a car. Also I noticed that it is too easy to have nasal secretion tinged with blood and once I had a a mild eye inflammation that showed small area of subconjunctival haemorrhage, I easily have petichae or haematoma after traumas.
I am generally good. My chest is more or less good with some ronchi but sometimes I feel that my breathing is heavy as if there is resistance, sometimes I expectorate one sputum that feel necrotic , I mean not mucoid as usual but feel friable, this is occasional and sometimes precedes the
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main reason for eosinophillia
•Lung diseases
•Due to inflammation of blood vessels
•Certain malignant tumors
•Due to certain types of antibody deficiencies
•Certain types of skin diseases
Eosinophilia in children is more difficult to diagnose as the range of probable causes is much wider in this case compared to adults.
Treatment
•Diet history and details of medication in order to detect any specific allergic reactions
•Information pertaining to travel history to identify if infection occurred due to travel to any infection endemic area.
•Detailed history of symptoms

you really really need to see a Dr. and take medicine. I know you are doing it, but you need a full test for all the items.
you need to do further rest and see what is the main reason for it and take medicine.
Oh my God, you wrote this much and spend time on net about your problem.
My be the place, or the seasonal flower or even carpet or anything, or even the room that you stay. Do you know, eosinophilia count is not treated as a dieses for employment. What I can do is to pray for you. Take care and Jesus may touch and heal you and you could lead a normal life. God bless you.  (+ info)

need information on thompsens dissease & treatment of.?


It is also myotonio congenita type two [2]
for humans not dogs. thanks anyway
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http://amsc.us/myo-symp.html

amazing what you can find out if you spell it right. see the above link.  (+ info)

why can,t I feel happy anymore?will I ever again?


My eldest of 5 daughters whom was 12yrs died a year ago on Tuesday that means that for a whole year I,ve been totally miserable and I just can,t seem to shake it off, it,s dreadful & it,s affecting not just me but everyone who,s close to me I,ve tryed counselling and antidepressants neither worked, I,ve aslo tryed going to a spiritulist church where I got a message telling me to stop going in circles and that I,m in charge of my own destiny from a little girl with long ginger hair holding her chest & her left leg which was a very good description of her from a complete stranger, as she had a rare physical disability called Arthrogryposis Multiplex Congenita which affects 1 in 10,000 people every year it affects muscles around jionts of limbs replacing them with extra tissue instead of course she had it as bad as anyone possibly could but she was pretty,bright,confident,stubborn & bossy, she attended a 'normal' high school and was very popular, I still have 4 daughters.
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You WILL feel normal again I promise - but you have to let time take its course. One year is not long to grieve over a child and when you lose a loved one the first year is the hardest one. You come up against the first things without them - birthdays, christmas, holidays etc etc. but once the first events are past it does get easier until in time you'll learn to smile at her memory instead of crying and being sad. Just give it time and you will start to celebrate her life instead of mourning her death. xxxxxx  (+ info)

My hip and leg hurts everytime the weather starts to change, whats the deal?


Sometimes even my wrist hurts. Its usually about two days before it starts to rain or something like that. I was in a car wreck a few years ago but I wasn't hurt badly, just scratched and bruised. I'm 16 and this has been going on for a few years. My mom has it the same prob but she has athritis. I have paramiotonia congenita but I don't think that that could do anything could it? Anyody know how to make it stop or at least help to make occur less often? Any advice would be helpful.
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Apologies if this is duplicated....
I too have paramyotonia congenita Thr1313met.
I know its exasperated by temp swings and if the muscles are overused they can be painful (in my experience).  (+ info)

Can a vitamin change a man's sexual orientation by correcting a hormone imbalance?


The following is provided for information purposes only. If you believe you have a medical condition requiring treatment, please consult a qualified physician.

Two years ago, my doctor ordered routine blood tests as a part of my yearly check-up, and the lab mistakenly measured 17-alpha hydroxyprogesterone (17-OHP). Although I am an adult male, my 17-OHP level is in the prepubertal range without evidence of a clinical disease.

17-OHP is considered to be a precursor of both testosterone (T) and cortisol. It is rarely, if ever, measured in men, and is primarily evaluated during pregnancy, or during the diagnostic workup for female infertility and congenital adrenal hyperplasia in children. If a man’s T level is normal, 17-OHP is assumed to be normal. Although my testosterone (T) level is normal, 17-OHP is abnormal and my ratio of 17-OHP to T is 0.02. For men with normal testicular function the ratio is 0.24 +/- 0.08 (J Clin Endocrinol Metab. 1978 Nov;47(5):1144-7; Basal and human chorionic gonadotropin-stimulated 17 alpha-hydroxyprogesterone and testosterone levels in Klinefelter's syndrome).

Low 17-OHP levels are associated with combat stress, old age, steroid abuse; disorders such as Addison’s disease, adrenal hypoplasia congenita, adrenal exhaustion, hypogonadism; and various intersex disorders such 17-beta hydroxysteroid dehydrogenase deficiency and Klinefelter’s syndrome, a genetic condition characterized by an XXY chromosome pattern.

Both T and 17-OHP dramatically increase in males before and after birth. During the first 1-2 months of life, these hormones surge to adult levels during a period know as the “mini puberty” of infancy. Research suggests that exposure to prenatal stress can disrupted the surge in these hormones during critical phases of brain development.

Studies show that exogenous T increases a man’s sex drive without changing his sexual orientation. Although it is well established that T is necessary for the development of male secondary sex characteristics, low, high or normal T levels alone do not determine a man's sexual orientation.

Again, it is interesting to note that both T AND 17-OHP surge simultaneously during the prenatal, postnatal, and adolescent periods of male sexual development. This seems to suggest that T may work together with either 17-OHP or some other hormone for which 17-OHP is a precursor, perhaps epitestosterone (EpiT). Too much or too little T in the absence of corresponding levels 17-OHP or EpiT in the blood may result in a homosexual orientation. It is possible that an imbalance between 17-OHP and T or T and EpiT may distinguish homosexual from heterosexual men. Currently, EpiT is only measured in urine for the purpose of detect illicit anabolic steroid use by athletes.

I worked with my doctor for a year before finding that the vitamin that balances my hormones is pyridoxine or vitamin B6, often referred to as the “anti-stress vitamin.” Although my vitamin B6 level is normal, B6 at 150-200 mg per day for one month normalizes my 17-OHP level, while raising the ratio of 17-OHP to T from a baseline of 0.02 to 0.17. However, after a month without therapy my levels return to baseline.

It is well established that steroid hormones, such as estrogen and testosterone, exert their effects in the body by binding to steroid hormone receptors in the nucleus of the cell and altering gene transcription. Interestingly, the bioactive form of vitamin B6, pyridoxal-5-phosphate (PLP) binds to steroid receptors in a manner that inhibits the binding of steroid hormones, thus decreasing their effects. Consequently, increased binding of PLP to steroid receptors for estrogen, progesterone, testosterone, and other steroid hormones may explain why mega doses vitamin B6 correct my hormone imbalance.

I encourage anyone who believes there is a biological basis for his same-sex attraction to have his T, progesterone and 17-OHP levels measured. If you are unable to find a doctor to do so, or privacy is an issue, order the tests yourself through a direct access laboratory such as EconoLabs or Health Tests Direct.

My doctor always obtained both baseline and post-therapy early morning (8:00 AM), fasting blood samples. Recent vitamin, mineral, and prescription drug intake may compromise the accuracy of results. I eliminated them from my diet for at least two weeks prior to any blood test.

The Postnatal Gonadotropin and Sex Steroid Surge—Insights from the Androgen Insensitivity Syndrome The Journal of Clinical Endocrinology & Metabolism Vol. 87, No. 1 24-28

http://jcem.endojournals.org/cgi/content/short/87/1/24
Homosexuality is not a disease. Many heterosexuals also experience same-sex attraction. There are three questions here:

1) Does vitamin B6 influence hormone levels?

2) Do 17-OHP levels and/or 17-OHP to T ratios distinguish homosexual from heterosexual males?

3) If such a difference exists, does vitamin B6 influence hormone levels and/or brain regions associated with sexual orientation?
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No, it cannot.  (+ info)

What's the treatment of Type 2 pachyonachya congenita involving lateral border of tongue with steatocystomas?


Are you certain you're dealing with a TONGUE? This condition is more likely to affect the nails or skin. I've not heard of it affecting the tongue.

Quite interesting!!  (+ info)

Can a vitamin change a man's sexual orientation by correcting a hormone imbalance?


The following is provided for information purposes only. If you believe you have a medical condition requiring treatment, please consult a qualified physician.

Two years ago, my doctor ordered routine blood tests as a part of my yearly check-up, and the lab mistakenly measured 17-alpha hydroxyprogesterone (17-OHP). Although I am an adult male, my 17-OHP level is in the prepubertal range without evidence of a clinical disease.

17-OHP is considered to be a precursor of both testosterone (T) and cortisol. It is rarely, if ever, measured in men, and is primarily evaluated during pregnancy, or during the diagnostic workup for female infertility and congenital adrenal hyperplasia in children. If a man’s T level is normal, 17-OHP is assumed to be normal. Although my testosterone (T) level is normal, 17-OHP is abnormal and my ratio of 17-OHP to T is 0.02. For men with normal testicular function the ratio is 0.24 +/- 0.08 (J Clin Endocrinol Metab. 1978 Nov;47(5):1144-7; Basal and human chorionic gonadotropin-stimulated 17 alpha-hydroxyprogesterone and testosterone levels in Klinefelter's syndrome).

Low 17-OHP levels are associated with combat stress, old age, steroid abuse; disorders such as Addison’s disease, adrenal hypoplasia congenita, adrenal exhaustion, hypogonadism; and various intersex disorders such 17-beta hydroxysteroid dehydrogenase deficiency and Klinefelter’s syndrome, a genetic condition characterized by XXY chromosome pattern.

Both T and 17-OHP dramatically increase in males before and after birth. During the first 1-2 months of life, these hormones surge to adult levels during a period know as the “mini puberty” of infancy. Research suggests that exposure to prenatal stress can disrupted the surge in these hormones during critical phases of brain development.

Studies show that exogenous T increases a man’s sex drive without changing his sexual orientation. Although it is well established that T is necessary for the development of male secondary sex characteristics, low, high or normal T levels alone do not determine a man's sexual orientation.

Again, it is interesting to note that both T AND 17-OHP surge simultaneously during the prenatal, postnatal, and adolescent periods of male sexual development. This seems to suggest that T may work together with either 17-OHP or some other hormone for which 17-OHP is a precursor, perhaps epitestosterone (EpiT). Too much or too little T in the absence of corresponding levels 17-OHP or EpiT in the blood may result in a homosexual orientation. It is possible that an imbalance between 17-OHP and T or T and EpiT may distinguish homosexual from heterosexual men. Currently, EpiT is only measured in urine for the purpose of detect illicit anabolic steroid use by athletes.

I worked with my doctor for a year before finding that the vitamin that balances my hormones is pyridoxine or vitamin B6, often referred to as the “anti-stress vitamin.” Although my vitamin B6 level is normal, B6 at 150-200 mg per day for one month normalizes my 17-OHP level, while raising the ratio of 17-OHP to T from a baseline of 0.02 to 0.17. However, after a month without therapy my levels return to baseline.

It is well established that steroid hormones, such as estrogen and testosterone, exert their effects in the body by binding to steroid hormone receptors in the nucleus of the cell and altering gene transcription. Interestingly, the bioactive form of vitamin B6, pyridoxal-5-phosphate (PLP) binds to steroid receptors in a manner that inhibits the binding of steroid hormones, thus decreasing their effects. Consequently, increased binding of PLP to steroid receptors for estrogen, progesterone, testosterone, and other steroid hormones may explain why mega doses vitamin B6 correct my hormone imbalance.

I encourage anyone who believes there is a biological basis for his same-sex attraction to have his T, progesterone and 17-OHP levels measured. If you are unable to find a doctor to do so, or privacy is an issue, order the tests yourself through a direct access laboratory such as EconoLabs or Health Tests Direct.

My doctor always obtained both baseline and post-therapy early morning (8:00 AM), fasting blood samples. Recent vitamin, mineral, and prescription drug intake may compromise the accuracy of results. I eliminated them from my diet for at least two weeks prior to any blood test.

The Postnatal Gonadotropin and Sex Steroid Surge—Insights from the Androgen Insensitivity Syndrome The Journal of Clinical Endocrinology & Metabolism Vol. 87, No. 1 24-28

http://jcem.endojournals.org/cgi/content/short/87/1/24
To date, there are no published, peer-reviewed studies of 17-OHP levels and 17-OHP to T ratios in homosexual males.
Homosexuality is not a disease. Many heterosexuals also experience same-sex attraction. There are three questions here:

1) Does vitamin B6 influence hormone levels?

2) Do 17-OHP levels and/or 17-OHP to T ratios distinguish homosexual from heterosexual males?

3) If such a difference exists, does vitamin B6 influence hormone levels and/or brain regions associated with sexual orientation?
There are no published studies on the effect of vitamins on sexual orientation.
Androsterone/Etiocholanolone Ratios in Male Homosexuals
http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1586258&blobtype=pdf
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no...  (+ info)

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