Enzyme that triggers muscle wasting could be key to REVERSING signs of ageing | Daily Mail Online

Posted on May 21, 2015 by MaryO

Drawing on expertise from both the University of Birmingham and Queen Elizabeth Hospitals Birmingham, they applied their knowledge of Cushing’s syndrome to the new problem (sarcopenia).

Cushing’s is hormonal disorder caused by high levels of cortisol. Patients suffer from the syndrome see marked changes in their body composition.

The effects can be devastating for patients who can develop features such as muscle wasting and weakness, weight gain, thinning of the bones, diabetes, high blood pressure and heart disease.

Dr Hassan-Smith said: ‘Looking at this particular enzyme seemed like an intriguing way forward.

‘We knew how it works in relation to Cushing’s Syndrome, which is characterised by similar symptoms, and thought it would be worthwhile applying what we knew to the ageing population.’

Currently there are no treatments for sarcopenia, the team explained.

But pharmaceutical companies are developing and testing ways to block or switch off the enzyme, with a focus on treatments for conditions including diabetes.

The team is excited about taking the results of their study forward into future research, with one eye on adapting the inhibitors already in development to combat muscle ageing.

Dr Hassan Smith added: ‘The next stage is a “proof of concept” study to look at the effects of these inhibitive pharmaceuticals on muscle function, before opening it up into a clinical trial.

‘It’s an as yet unexplored area that could yield beneficial results for a problem that is becoming more prevalent as our lifespans increase.’

The study was published in the journal of Clinical Endocrinology and Metabolism.

 

via Enzyme that triggers muscle wasting could be key to REVERSING signs of ageing | Daily Mail Online.

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RARE Webinar: Leveraging a Rare Disease Center of Excellence

Posted on May 13, 2015 by MaryO

Screenshot 2015-05-13 19.36.00

 

 

 

As many patient advocates continue on their journey to become empowered activists, some may learn and want to consider starting a rare disease center of excellence.

This webinar covers how this can be done, what the obstacles and challenges are, and whether there are other options viewers should consider (like utilizing other centers that already exist).

If you cannot attend this, please register anyway, so we can send you details on the slides and archived event afterwards.

If you have any questions or technically issues during the event, please reach out to Katiem@globalgenes.org.

Filed under: Meetings and Conferences, Rare Diseases | Tagged: , , , | 1 Comment »

If One Partner Has Cushing’s Syndrome, Can The Couple Still Get Pregnant?

Posted on May 12, 2015 by MaryO

Cushing’s syndrome can affect fertility in both men and women.

Women

The high levels of cortisol in Cushing’s syndrome disrupt a woman’s ovaries. Her menstrual periods may stop completely or become irregular. As a result, women with Cushing’s syndrome almost always have difficulty becoming pregnant.5,6,7 For those who do become pregnant, the risk of miscarriage is high.5,6,7

In rare cases, usually when a woman’s Cushing’s syndrome is caused by a benign adrenal tumor, pregnancy can occur, but it brings high risk for the mother and fetus.5,6,7

After a woman is treated for Cushing’s syndrome, her ovaries often recover from the effects of too much cortisol. Her regular menstrual cycles will return, and she can become pregnant.8

In some women, regular periods do not return after they are treated for Cushing’s syndrome. This occurs if surgery removes the part of the pituitary gland involved in reproduction.4 An infertility specialist can prescribe hormone therapy to bring back regular periods, ovulation, and fertility.8

Men

A man diagnosed with Cushing’s syndrome may have a decline in sperm production and could have reduced fertility.9 He also might experience a lowered sex drive as well as impotence (pronounced IM-puh-tuhns). In addition, some medications used to treat Cushing’s syndrome can reduce fertility.10 However, fertility usually recovers after Cushing’s syndrome is cured and treatment has stopped.9

Does Cushing’s syndrome affect pregnancy?

Cushing’s syndrome can cause serious and potentially life-threatening effects for the mother and the fetus during pregnancy.11,12 For example, Cushing’s syndrome raises a woman’s risk of developing pregnancy-related high blood pressure (called preeclampsia, pronounced pree-i-KLAMP-see-uh, or eclampsia) and/or pregnancy diabetes, which also is called gestational (pronounced je-STEY-shuhn-ul) diabetes). Infection and slow healing of any wounds are more likely, as is heart failure. When the syndrome is caused by a tumor, it will be surgically removed as early as possible to reduce any threat.13

  1. Margulies, P. (n.d.). Adrenal diseases—Cushing’s syndrome: The facts you need to know. Retrieved May 21, 2012, from National Adrenal Diseases Foundation website http://www.nadf.us/adrenal-diseases/cushings-syndrome/ External Web Site Policy
  2. Nieman, L. K., & Ilias, I. (2005). Evaluation and treatment of Cushing’s syndrome. Journal of American Medicine, 118(12), 1340-1346. PMID 16378774.
  3. American Cancer Society. (n.d.). Fact sheet on pituitary tumors. Retrieved May 19, 2012, fromhttp://documents.cancer.org/acs/groups/cid/documents/webcontent/003133-pdf.pdf (PDF – 171 KB). External Web Site Policy
  4. Biddie, S. C., Conway-Campbell, B. L, & Lightman, S. L. (2012). Dynamic regulation of glucocorticoid signalling in health and disease. Rheumatology, 51(3), 4034-4112. Retrieved May 19, 2012, from PMID: 3281495.
  5. Abraham, M. R., & Smith, C. V. (n.d.). Adrenal disease and pregnancy.Retrieved April 8, 2012, fromhttp://emedicine.medscape.com/article/127772-overview – aw2aab6b6. External Web Site Policy
  6. Pickard, J., Jochen, A. L., Sadur, C. N., & Hofeldt, F. D. (1990). Cushing’s syndrome in pregnancy. Obstetrical & Gynecological Survey, 45(2), 87-93.PMID 2405312.
  7. Lindsay, J. R., Jonklaas, J., Oldfield, E. H., & Nieman, L. K. (2005). Cushing’s syndrome during pregnancy: Personal experience and review of the literature. Journal of Clinical Endocrinology and Metabolism, 90(5), 3077.PMID 15705919.
  8. Klibansky, A. (n.d.). Pregnancy after cure of Cushing’s disease. Retrieved April 27, 2012, fromhttp://03342db.netsolhost.com/page/pregnancy_after_cure_of_cushings_disease.php. External Web Site Policy
  9. Jequier, A.M. Endocrine infertility. In Male infertility: A clinical guide (2nd ed.). Cambridge University Press, 2011: chap 20, pages 187-188. Retrieved May 19, 2012, from http://books.google.com/books?id=DQL0YC79uCMC&pg=PA188&lpg=PA188&dq=male+infertility+causes+and+treatment+Cushing&source=bl&ots=k1Ah5tVJC7&sig=WJR4N0wUawlh0Rant31QMPq6ufs&hl=en&sa=X&ei=hGe5T-LrHYSX6AHgrvmzCw&ved=0CGoQ6AEwAQ#v=onepage&q=male%20infertility%20causes%20and%20treatment%20Cushing&f=false. External Web Site Policy
  10. Stewart, P. M., & Krone, N. P. (2011). The adrenal cortex. In Kronenberg, H. M., Shlomo, M., Polonsky, K. S., Larsen P. R. (Eds.). Williams textbook of endocrinology (12th ed.). (chap. 15). Philadelphia, PA: Saunders Elsevier.
  11. Abraham, M. R., & Smith, C. V. Adrenal disease and pregnancy. Retrieved April 8, 2012, from http://emedicine.medscape.com/article/127772-overview – aw2aab6b6. External Web Site Policy
  12. Buescher, M. A. (1996). Cushing’s syndrome in pregnancy. Endocrinologist, 6, 357-361.
  13. Ezzat, S., Asa, S. L., Couldwell, W. T., Barr, C. E., Dodge, W. E., Vance M. L., et al. (2004). The prevalence of pituitary adenomas: A systematic review.Cancer, 101(3), 613-619. PMID 15274075.

From https://www.nichd.nih.gov/health/topics/cushing/conditioninfo/pages/faqs.aspx

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Severe psychosis due to Cushing’s syndrome in a patient with a carcinoid tumour in the lung

Posted on April 30, 2015 by MaryO

Severe psychosis in patients with Cushing’s syndrome is a rare occurrence and can be extremely resistant to medical therapy. We describe a case of a 51-year-old Afro-Caribbean female patient, with refractory severe hypertension (initially resistant to polypharmacy) and gradual development of severe psychosis secondary to ectopic Cushing’s syndrome, who was subsequently diagnosed to have a carcinoid tumour in her lung.

Her psychotic episodes – secondary to hypercortisolism and initially refractory to the medical therapy – subsided only after the resection of the carcinoid tumour in her right lower pulmonary lobe. Early localization and appropriate surgical resection of the ectopic ACTH-secreting tumour can be of immense value to the successful alleviation of the psychotic episodes of the patients with ectopic Cushing’s syndrome.

Author: Mohamad BabaDebamalya Ray
Credits/Source: World Journal of Surgical Oncology 2015, 13:165

From http://7thspace.com/headlines/507616/severe_psychosis_due_to_cushings_syndrome_in_a_patient_with_a_carcinoid_tumour_in_the_lung_a_case_report_and_review_of_the_current_management.html

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Congenital adrenal hyperplasia: Current surgical management at academic medical centers in the United States

Posted on April 29, 2015 by MaryO

J Urol. 2015 May;193(5 Suppl):1796-801. doi: 10.1016/j.juro.2014.11.008. Epub 2015 Mar 25.

Congenital adrenal hyperplasia: current surgical management at academic medical centers in the United States.

Sturm RM1, Durbin-Johnson B1, Kurzrock EA1.

Author information

Abstract

PURPOSE:

Controversy exists on the necessity for and timing of genitoplasty in girls with congenital adrenal hyperplasia. Our knowledge of surgical preferences is limited to retrospective series from single institutions and physician surveys, which suggest a high rate of early reconstruction. We evaluated current surgical treatment for congenital adrenal hyperplasia at academic centers.

MATERIALS AND METHODS:

We queried the Faculty Practice Solutions Center database to identify all female patients younger than 18 years with a diagnosis of congenital adrenal hyperplasia between 2009 and 2012. Procedures were identified by CPT codes for vaginoplasty, clitoroplasty and other genital procedures. Reconstruction type, age at surgery and surgeon volume were analyzed.

RESULTS:

We identified 2,614 females in the database with a diagnosis of congenital adrenal hyperplasia who were seen at a total of 60 institutions. Of infants younger than 12 months between 2009 and 2011 as few as 18% proceeded to surgery within a 1 to 4-year followup. Of those referred to a pediatric urologist 46% proceeded to surgery. Of patients who underwent surgery before age 2 years clitoroplasty and vaginoplasty were performed in 73% and 89%, respectively, while 68% were treated with a combined procedure. A medium or high volume surgeon was involved in 63% of cases.

CONCLUSIONS:

Many patients with congenital adrenal hyperplasia in the database did not proceed to early reconstructive surgery. Of those referred to surgeons, who were possibly the most virilized patients, about half proceeded to early surgery and almost all underwent vaginoplasty as a component of surgery. About two-thirds of the procedures were performed by medium or high volume surgeons, indicative of the surgical centralization of disorders of sexual development.

Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

KEYWORDS:

adrenal glands; adrenal hyperplasia; congenital; disorders of sex development; reconstructive surgical procedures; virilism

PMID:
25817160
[PubMed – in process]

from http://www.ncbi.nlm.nih.gov/pubmed/25817160

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