Sharing a Precision Medicine Story with the Kansas City Community
Founder and President of the Turner Syndrome Global Alliance Kelly Ranallo shared her family’s story and discussed the importance of making precision medicine available to everyone at the Kansas City launch of the All of Us Research Program. Ranallo emphasized how precision medicine can help improve the health for all by taking into account each person’s genetic makeup.
Go to the video of her talk to hear more about her family’s journey. (Source: MCR News)
Source: MCR News - September 6, 2018 Category: Databases & Libraries Authors: liaison Tags: #Health Interest List #Health Sciences List #Public/K-12 List All of Us Precision medicine Source Type: news
Teacher, 40, is mistaken for her nephew ’s 13-year-old cousin due to rare syndrome
Pinky Bahroos,40, from Badodra in Gujarat, suffers from Turner's Syndrome- a rare chromosome disorder which has stunted her development, and is often mistaken for her nephew's 13-year-old cousin. (Source: the Mail online | Health)
Source: the Mail online | Health - September 5, 2018 Category: Consumer Health News Source Type: news
Following FDA nod, Ferring plans launch for needle-free drug-delivery system
Ferring Pharmaceuticals said last week that the FDA approved its injectable somatropin product for four additional pediatric indications: idiopathic short stature, short stature associated with Turner syndrome, short stature born small for gestational age with no catch-up growth by 2 – 4 years and growth failure in short stature homeobox-containing gene deficiency.
In connection with the new approvals, Ferring plans to launch a needle-free drug-delivery system for its somatropin product in September this year.
Get the full story at our sister site, Drug Delivery Business News.
The post Following FDA nod, Ferring plans ...
Source: Mass Device - July 23, 2018 Category: Medical Devices Authors: Sarah Faulkner Tags: Drug-Device Combinations Food & Drug Administration (FDA) Pediatrics Pharmaceuticals Regulatory/Compliance ferringpharmaceuticals Source Type: news
No increased risk of bone fracture in Turner syndrome
According to a 6-year prospective study, published in theJournal of Clinical Endocrinology& Metabolism, girls with Turner syndrome, given growth hormone and oestrogen therapy, do not have an increased risk of bone fractures.Healio (Source: Society for Endocrinology)
Source: Society for Endocrinology - January 8, 2018 Category: Endocrinology Source Type: news
International collaboration release revised guideline for improved management of Turner syndrome
A comprehensive, international guideline that incorporates the most up-to-date knowledge on diagnosis, treatment and patient impact of Turner syndrome (TS) has been published in theEuropean Journal of Endocrinology (EJE). The guidelines incorporate the latest evidence-based advice for diagnosis and treatment of girls and women with TS.This project was initiated by theEuropean Society for Endocrinology (ESE) and thePediatric Endocrine Society (PES), in collaboration with the Society for Endocrinology, the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Emb...
Source: Society for Endocrinology - July 24, 2017 Category: Endocrinology Source Type: news
Societies release updated guideline for Turner syndrome
The European Society for Endocrinology and the Paediatric Endocrine Society, in collaboration with six other learned societies, have incorporated the latest evidence-based advice for diagnosis and treatment of TS.European Pharmaceutical Review (Source: Society for Endocrinology)
Source: Society for Endocrinology - July 18, 2017 Category: Endocrinology Source Type: news
No Increased Risk of Early Death With GH Therapy for Most Diagnostic Groups No Increased Risk of Early Death With GH Therapy for Most Diagnostic Groups
There doesn ' t appear to be an elevated risk of early death in children treated with growth hormone (GH) for idiopathic growth hormone deficiency (GHD), idiopathic short stature, small-for-gestational age (SGA), Turner syndrome, SHOX deficiency or history of benign neoplasia, compared with children in the general population.Reuters Health Information (Source: Medscape Pathology Headlines)
Source: Medscape Pathology Headlines - June 5, 2017 Category: Pathology Tags: Diabetes & Endocrinology News Source Type: news
Autism Causes
By Drs. David Niesel and Norbert Herzog
A diagnosis of autism spectrum disorder or ASD in a child can be devastating for parents. Scientists have been seeking the cause of ASD for decades but it still remains elusive. ASD is a group of neurodevelopmental disorders that result in a wide range of symptoms, disabilities and skills. The official categorization of ASD includes three primary diagnoses: Autistic Disorder, Pervasive Developmental Delays - Not Otherwise Specified (PDD-NOS) and Asperger syndrome. The diagnosis of Autistic Disorder must include impairments in three cardinal domains: communication abnormalities, im...
Source: Science - The Huffington Post - September 6, 2016 Category: Science Source Type: news
In Klinefelter Syndrome Patients, What are the Common Behavioral Problems?
Discussion
Klinefelter syndrome (KS) is a common genetic abnormaly with a prevalence of 1 in ~650 male births. It was first described in 1942 by Dr. Harry Klinefelter. It is associated with at least one extra X chromosome with the most common karyotype (~80% of patients) being 47 XXY. Other karyotypes are seen along with mosaicism. It is believed that although it is very prevalent, only about 25-33% of people with KS are identified. About 10% are identified before puberty with the rest usually identified because of hypogonadism and tall stature especially in teenage years or due to infertility in adulthood. KS is diagnosed...
Source: PediatricEducation.org - August 29, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
What Medical Problems Can Patients with Turner Syndrome Have?
Discussion
Turner Syndrome (TS) is one of the most common genetic disorders in females. It was first described by Dr. Henry H. Turner in 1938. It affects 1 in 2000-2500 births and ~70,000 girls and women have TS in the United States. It is caused by the absence of all or part of the second X chromosome. The most common variation is 45X which affects about 50% of TS patients and usually has the most complications, but there are other variations. Phenotypes vary and therefore the age of diagnosis varies. Mean age of diagnosis unfortunately is 15 years. Diagnosis is made by chromosomal analysis. Haploinsufficiency of the SHOX...
Source: PediatricEducation.org - August 15, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
Early estrogen likely prevents bone fractures in Turner syndrome
BOSTON – The longer that estrogen therapy is delayed in girls with Turner syndrome, the lower their bone density will be in subsequent years, based on results of a retrospective, cross-sectional <a... (Source: Pediatric News)
Source: Pediatric News - April 2, 2016 Category: Journals (General) Source Type: news
Early estrogen likely prevents bone fractures in Turner syndrome
BOSTON – The longer that estrogen therapy is delayed in girls with Turner syndrome, the lower their bone density will be in subsequent years, based on results of a retrospective, cross-sectional <a... (Source: Clinical Endocrinology News)
Source: Clinical Endocrinology News - April 2, 2016 Category: Endocrinology Source Type: news
Look At Me: Why Genetic Test Results Don't Tell the Full Story
I sometimes wonder what difference it would have made if my mom knew that I had Turner syndrome while she was pregnant with me. She is adamant she never would have aborted me. But today, pre-natal genetic screenings and other fetal tests for Turner syndrome are widely used, and I worry that too many are making irreversible decisions without understanding the disorder. Studies around the world have shown parents abort an average of 76 percent of fetuses found to have TS. Like Down syndrome or autism, Turner is a spectrum disorder with symptoms that range in severity, and a diagnosis is no indication of what an individual'...
Source: Science - The Huffington Post - March 7, 2016 Category: Science Source Type: news
Celiac Disease More Common in Patients With Turner SyndromeCeliac Disease More Common in Patients With Turner Syndrome
Girls and women with Turner syndrome have a threefold higher risk for celiac disease than the general population, according to a large case-control study. Medscape Medical News (Source: Medscape Allergy Headlines)
Source: Medscape Allergy Headlines - January 14, 2016 Category: Allergy & Immunology Tags: Pediatrics News Source Type: news
