European network for PHP and related disorders

This is an European network of people working on Inactivating PTH/PTHrP signaling disorders (iPPSDs) at clinics and research. Together we can help more patients

[European network for PHP and related disorders @Euro_iPPSDnet]

Do you present some alterations at your #calcium and #phosphate analytics? Are your #hands short?
Ask your clinician to read:
#Recommendations for #Diagnosis and #Treatment of #Pseudohypoparathyroidism and Related Disorders: An Updated Practical… https://t.co/FJO8iBp04Y

[European network for PHP and related disorders @Euro_iPPSDnet]

The #Euro-iPPSDnet "hard group" is growing, second generation has joint us.
Another fruitful and funny weekend in Madrid.
#papers and #projects are coming 🤗

[EURORDIS-Rare Diseases Europe @eurordis]

Have you signed yet? 🖋️

Over 600 people have already signed the #ECRD2024 Open Letter to the future leaders of Europe.

🔗 Sign now on behalf of yourself or your organisation: https://t.co/6Xjf4LRX4c

[EURORDIS-Rare Diseases Europe @eurordis]

The results of our #RareBarometer survey are available as a peer-reviewed article in the European Journal of Human Genetics!

Our largest yet, the survey provides insight into the diagnosis journey of people living with a rare disease.

➡️Read the article: https://t.co/HDxhbyUWUb

[RarasNoInvisibles @NoInvisibles]

Desde que nacimos, en #RRSS, Raras pero @NoInvisibles, siempre intentó ceñirse a estos criterios, no podemos estar mas de acuerdo👍
"Decálogo de recomendaciones para comunicar resultados de la investigación en #EnfermedadesRaras a pacientes y familiares"
Este documento, destaca la importancia de ser rigurosos, empáticos y claros en la comunicación👏👏👏👏
Gr. @CIBERER👇@SaludISCIII
https://t.co/kjBN9skeyz

[European network for PHP and related disorders @Euro_iPPSDnet]

Fortunately, GNAS-AS2 is a region that is analysed with the most frequently used kit for the molecular study of patients with suspected PHP1B/iPPSD3.

[European network for PHP and related disorders @Euro_iPPSDnet]

Do you remember this?
https://t.co/g1MN0HaXKs

[European network for PHP and related disorders @Euro_iPPSDnet]

We want to share with you this fantastic article that gives us some clues regarding #PHP1B/#iPPSD3 @associationk20 @asociacion_php

The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B … https://t.co/ijMrIPjNA6

[European network for PHP and related disorders @Euro_iPPSDnet]

In fact, if there is an alteration in GNAS-A/B associated with alteration in GNAS-AS2, it is most likely that there is a deletion in the STX16/NESP55 regulatory elements, whereas if GNAS-AS2 is not altered, that is not where we should be looking.

[European network for PHP and related disorders @Euro_iPPSDnet]

How can this be possible?

[Nadia Merchant, MD @nadiamerch]

Need a solution NOW for growth hormone shortage nationally and internationally… frustrated patients and parents, nurses and staff working overtime with risk of burnout, and pediatric endocrinologists hoping we don’t have another child who really needs it. #ghshortage #pedsendo

[European network for PHP and related disorders @Euro_iPPSDnet]

In patients with pseudohypoparathyroidism it is important to monitor calcium and phosphorus intake. This article gives some hints on what to eat. @associationk20 @asociacion_php
Nutrition recommendations for patients with pseudohypoparathyroidism https://t.co/J2vsmAzP43

[European network for PHP and related disorders @Euro_iPPSDnet]

Perturbation of this regulatory mechanism, either by genetic ICR deletions or by as-yet-undefined events may be the underlying cause of certain PHP1B cases".

[European network for PHP and related disorders @Euro_iPPSDnet]

We want to share with you this fantastic article that gives us some clues regarding #PHP1B/#iPPSD3 @associationk20 @asociacion_php

The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B … https://t.co/ijMrIPjNA6

[European network for PHP and related disorders @Euro_iPPSDnet]

In the authors' words: "the STX16-ICR enhanced NESP55 transcription from the NESP-ICR in a postzygotic stage–specific manner, which controls methylation at the A/B DMR in this critical period of GNAS imprinting.