Familial isolated pituitary adenoma (AIP study)

Professor Márta Korbonits is the Chief Investigator for the NIHR Clinical Research Network supported familial pituitary adenomas study (AIP) which is investigating the cause, the clinical characteristics and family screening of this relatively recently established disease group.

Please tell us about the condition in layman’s terms?
Pituitary adenomas are benign tumours of the master gland of the body, the pituitary gland. It is found at the base of the brain. The most commonly identified adenoma type causing familial disease makes excess amounts of growth hormone, and if this starts in childhood the patient have accelerated growth leading them to become much taller than their peers. This condition is known as gigantism.

How rare is this condition?
Pituitary adenomas cause disease in 1 in a 1000 person of the general population. About five to seven percent of these cases are familial pituitary adenomas.

How it is normally diagnosed?
There are different types of pituitary adenomas causing quite varied diseases. Gigantism and its adult counterpart acromegaly is usually diagnosed due to rapid growth, headaches, joint pains, sweating, high blood pressure and visual problems. Pituitary adenomas grow slowly and it usually takes 2-10 years before they get diagnosed. The diagnosis finally is made by blood tests measuring hormones, such as growth hormone, and doing an MRI scan of the pituitary area.

What is the study aiming to find out?
The fact that pituitary adenomas can occur in families relatively commonly was not recognised until recently. Our study introduced testing for gene alterations in the AIP (Aryl Hydrocarbon Receptor Interacting Protein) gene in the UK, and identified until now 38 families with 160 gene carriers via screening. We also aim to identify the disease-causing genes in our other families as well.

How will it benefit patients?
The screening and early treatment of patients can have a huge benefit to patients as earlier treatment will lead to less complications and better chance to recovery. We hope we can stop the abnormal growth spurts therefore avoiding gigantism. Patients that are screened will find out if they carry the AIP gene and whether they are likely to pass on the gene to their families. For most patients, knowing they have a gene abnormality also helps them to understand and accept their condition.

How will it change practice?
As knowledge of the condition becomes more understood, genetic testing of patients to screen for AIP changes should be more commonplace. Patients can be treated knowing they have this condition, and family members who are carriers of the gene can benefit from MRI scans to monitor their pituitary gland and annual hormone tests.

How did the NIHR CRN support the study?
The familial pituitary adenoma study is on the NIHR CRN Portfolio. The study’s association with NIHR has allowed the widespread assessment of the patients, has incentivised referrals from clinicians and raised awareness of both our study and the familial pituitary adenoma condition itself.

For more information contact NIHR CRN Communications Officer, Damian Wilcock on 020 3328 6705  or email damian.wilcock@nihr.ac.uk

From https://www.crn.nihr.ac.uk/blog/case_study/national-rare-disease-day-2016-familial-isolated-pituitary-adenoma-aip-study/

Rare Disease Day, 2016!

rare-disease-day-robin

There are events all over the world today.  What are *You* doing to raise awareness for Cushing’s, Addison’s or other rare disease you have?

Many thanks to Robin for the great graphic!

 

The USA joined Rare Disease Day in 2009, making the campaign a truly international affair. Diverse events and campaigns have been organised since then, including educational programmes in schools and a collection of photographs entitled “Handprints across America” with the Rare Disease logo across the USA. In 2013 President Barack Obama sent a letter proclaiming his support of the day. In 2015, the day was a nation-wide affair, with events everywhere from California to New York to Texas. More than 35 states participated, holding conferences, artistic events, fundraising walks, and benefit dinners. In Chicago, a “Rock Rare Diseases” event created a playlist that was featured at many hospitals on the special day.

NORD, the National Organization for Rare Disorders, is committed to the identification, treatment, and cure of rare diseases through programmes of education, advocacy, research and patient services. They can be contacted directly to help you find a patient organisation locally which may have more information about a specific rare disease or disorder. Find their contact information on the bottom of this page.

You can also get involved! Do you know of any events not listed here? Email us at rarediseaseday@eurordis.org.

On Monday, February 29th, Rare Disease Week on Capitol Hill kicks off! Hundreds of advocates from around the country will be in Washington, D.C. for a full week of events. Space remains for the Caucus Briefing on Thursday March 3rd and the Rare Artist Reception. Can’t make it to Washington D.C.? NORD is helping coordinate State House Events across the U.S.

On Wednesday, March 2nd, the EveryLife Foundation for Rare Diseases is holding a Virtual Lobby Day for advocates who cannot attend the events in D.C. The event will ask advocates to contact Congress and ask that they co-sponsor the OPEN ACT, legislation to double the number of rare disease treatments. Please share widely on social media.

On Thursday, March 3rd, the first bicameral Congressional Rare Disease Caucus briefing will be held in the Auditorium of the U.S. Capitol Visitor Center at noon. Attendees will hear from the co-chairs of the Caucus and a panel discussion featuring key thought-leaders from the patient, regulatory, and industry communities who will discuss the Rare Disease Ecosystem.

On Wednesday, March 9th, the Senate Health, Education, Labor, and Pensions Committee (HELP) will hold its second hearing as part of its biomedical innovation initiative. To date, the Advancing Hope Act (Priority Review Voucher program at FDA) is scheduled for consideration. The final hearing is slated for April 6th, although no bills have been announced for consideration.

On Wednesday, March 16th, the EveryLife Foundation for Rare Diseases will hold a public webinar on newborn screening. The Foundation has just launched newborn screening legislation in California to expand and streamline screening for rare diseases.

On Wednesday, March 23rd, RDLA will hold its next monthly webinar. The agenda is OPEN! Please send suggestions for action items or policy issues to Vignesh Ganapathy at vganapathy@everylifefoundation.org.

Tiruchi surgeons treat Pakistan national for pituitary tumour

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The patient had discovered his condition by chance in Quetta last year.

A team of city-based surgeons has performed a sophisticated surgery on a young Pakistani national to remove a pituitary tumour.

Bakhtiyar Khan, a 30-year-old Pakistani national from the Talli village in Sibi, Balochistan, underwent the surgery here a few days ago.

The surgery was performed by Dr. T.N. Janakiraman, skull base surgeon and managing director, Royal Pearl Hospital and Research Institute, Dr. Uday Chanukya, Dr. Prayatna Kumar, skull base surgeons, and Dr. Balamurugan, anaesthesiologist.

The tumour, in the cavernous sinus — a large collection of thin-walled veins creating a cavity bordered by the temporal bone of the skull and the sphenoid bone in the head, was removed through endoscopic surgery.

“Normally surgeons go through the skull and brain to excise the tumour with the help of surgical microscopic glasses. But this doesn’t ensure the removal of the entire tumour, which is why radiation is recommended after the operation,” Dr. Janakiraman told The Hindu .

“In Bakhtiyar’s case, the tumour had gone into the cavernous sinus. We used his nasal cavity as the entry point, and brought the tumour out through the nose as well. This is a scar-less keyhole surgery that ensures complete excision and doesn’t require us to make a new opening in the skull,” he added.

Dr. Janakiraman, who was trained in the procedure by internationally renowned neurosurgeon Dr. Amin Kassam in the U.S. 10 years ago, has been doing the procedure for the past nine years in Tiruchi.

For the patient’s elder brother, Sardar Khan, the experience has been both exhausting yet exhilarating. A file clerk at the local health centre in Sibi, the Khan brothers had taken their father, who is paralysed, to a doctor in Quetta last year, when the physician there suggested that it was Mr. Bakhtiyar who needed medical attention urgently. “None of us knew that he was unwell,” recounted Mr. Sardar. “We were advised by neurosurgeon Dr. Asghar Khan to seek help in India immediately. I couldn’t believe that I, who had never left my village to see even Lahore or Karachi, had to go to India.”

In a process that took three to six months, Mr. Sardar convinced Mr. Bakhtiyar and his other siblings (they are eight brothers and two sisters) to get ready to meet Dr. Janakiraman, besides applying for passports and organising visas.

The brothers took the Samjhauta Express from Wagah to Delhi on January 31. The Tamil Nadu Sampark Kranti Express brought them to Tiruchi after a 46-hour journey. As a humanitarian gesture, the hospital has waived all fees (in the range of Rs. 1 to 3 lakhs), except the cost of medicines.

“I’m feeling much better now, and my eyesight has improved,” said Mr. Bakhtiyar Khan. After a few days of observation and a final MRI scan, he will be free to travel back home with his brother.

Said a gratified Mr. Sardar: “I haven’t seen much of India, or even of Tiruchi, but to me, Dr. Janakiraman and his team are India. I’d like to thank all my new friends in India for taking such good care of me and my brother.”

From http://www.thehindu.com/news/national/tamil-nadu/tiruchi-surgeons-treat-pakistan-national-for-pituitary-tumour/article8231567.ece

Medic Alert Bracelets

This was posted today on Facebook from Jeannie Middlebrooks, an EMS provider.  She says “Anyone can message me with questions too!”
I have seen alot of people recently asking for advice as to what to put on their Medic Alert Bracelets, What Kind to buy, etc.
The most common things I see are that bracelets are being bought that look like “normal jewelry” because they don’t want it to stick out.
The other thing is that they are putting the IMPORTANT information on the BACK of the bracelet
Guys I have been in EMS 16 years, and recently Diagnosed SAI this past april. so I have a few things to say on this subject. You can take it for what it’s worth, but please understand this is coming from someone who lives in the heat of the moment taking care of people like us when that moment counts.. When we find an unconscious patient we have several things that we are attempting to do to save that patient, granted looking for a medic alert tag is important, but it is not more important that keeping a compromised airway open, checking vitals, getting an IV, asking family for a history, etc. Looking for a medic alert is usually done en route to the hospital if it is not blatantly obvious upon arrival.
#1 Anything that looks pictures I have posted below, I can 100% promise you, will be looked over in the heat of the moment if you are unconscious. Your family will more than likely be on edge and forget to tell us, or you will be by yourself and no one will know to tell us to look. It looks like standard jewelry.. so I’m not going to look at it.. therefore missing your life threatening emergency.. and if I am one of MILLIONS of first responders that are unfamiliar with Adrenal Insufficiency, I will NOT recognize the signs and symptoms, and you will NOT get the care you need pre-hospital.. leaving your body without the necessary cortisol for that much longer.
#2- If you place your Pertinent information on the back of your bracelet, PLEASE make sure that the medic alert symbol is on the front of the bracelet, BIG AND RED… don’t make it small and pink, or the same color as the bracelet.. yet again. we will overlook it in the moment..
#3- Necklaces are a bad idea.. They almost always get tucked into a shirt, and we almost NEVER see them. they are easily moved.
#4- Your medic alert tag should have your name. What you Suffer From, That you are Steroid Dependant. Where your Injection Kit is location (if applicable), Instructions to give the meds or you will die.. (This alerts bystanders to give you the injection as well.. I can say this because I had a bystander do it based solely on my Medic Alert tag.. she found it, drew it up, and gave it to me), and an emergency contact who can give responders information they need. If you have more than one Critical condition. List the most life threatening in order.
Please Please Please don’t take this post the wrong way. I am saying all of this coming from someone who lives in these moments every day. I know how many first responders are not familiar with the disease that can so easily kill us, and if you are willing to risk your life for the sake of a “pretty” bracelet, then I can’t stop you.. nor can anyone here.. Just know that it is a HUGE risk…

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