Presentation
This grant will include an additional travel grant of up to 1,000 which must be used to attend a professional meeting to present results of the funded research. [apfed.org]
This may be a somewhat atypical presentation of Grant syndrome or perhaps the inflammation had run its course. We have not yet seen the patient back for follow-up to assess for any recurrences. [webeye.ophth.uiowa.edu]
[Epub ahead of print] (PubMed - Open Access)* Associated Presentations To Date: Yeast genome-wide screens to assess the genetic landscape for Barth syndrome (PDF Presentation) Audio File 2009 Grant Hatch, PhD, Professor, University of Manitoba, Winnipeg [barthsyndrome.ca]
ORPHA:2097 Synonym(s): - Prevalence: Inheritance: Unknown Age of onset: Neonatal ICD-10: Q87.5 OMIM: 138930 UMLS: C1841835 MeSH: C537293 GARD: 2559 MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]
Eyes
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Dry Eyes
Sjogren’s syndrome is a debilitating, chronic autoimmune disorder causing persistent dry mouth and dry eyes symptoms, as well as fatigue and joint pain. [ucl.ac.uk]
Musculoskeletal
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Decrease in Height
[…] body height Small stature [ more ] 0004322 Skin dimple over apex of long bone angulation 0001024 Sprengel anomaly High shoulder blade 0000912 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 [rarediseases.info.nih.gov]
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Muscle Weakness
Background Barth syndrome (BTHS) is a serious X-linked genetic condition associated with cardiomyopathy, neutropenia, skeletal muscle weakness, exercise intolerance, growth delay, and diverse biochemical abnormalities (including defects in mitochondrial [barthsyndrome.org]
Face, Head & Neck
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Large Fontanel
fontanelles Micrognathia Wormian bones Abnormality of pelvic girdle bone morphology Abnormality of the glenoid fossa Abnormality of the palate Abnormality of the ribs Brachycephaly Depressed nasal bridge Facial asymmetry Flat face Large face Muscular [dovemed.com]
fontanelles Wide fontanelles 0000239 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Wormian bones Extra bones within cranial sutures 0002645 30%-79% of people have these symptoms Abnormal palate morphology Abnormality of the [rarediseases.info.nih.gov]
Neurologic
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Neonatal Hypotonia
Initially, there is severe neonatal hypotonia with decreased appetite and impaired suck necessitating assisted feeding (nutritional phase 1a) (Miller et al, 2011). Nutritional phase 1a is characterized by the need for assisted feeding. [pwsausa.org]
Treatment
“Our study will provide important data for improving the treatment of Twin-to-Twin Transfusion Syndrome, which is the number one problem for multiple fetus pregnancies. [fetalhealthfoundation.org]
It will recruit 130 participants with primary Sjogren’s syndrome who will use the experimental treatment or placebo for 12 months. [ucl.ac.uk]
The grant will support development of Azitra’s skin microbiome therapeutic, AZT-02, a Live Biotherapeutic Product (LBP) for treatment of Netherton Syndrome (NS), a severely disabling orphan skin disease. [synbiobeta.com]
MPS IIIC is a devastating neurodegenerative lysosomal storage disorder of childhood for which there is no cure or effective treatment available. Dr. [phoenixnestbiotech.com]
“The results of their search will also enhance our pursuit of biomarkers that can be used to target and monitor treatment. [biovista.com]
Prognosis
(Outcomes/Resolutions) The prognosis of Grant Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms and complications [dovemed.com]
In the future, the results of this study may inform the prognosis and choice of treatment for MDS patients, and drive development of better therapies. The third grant was awarded to Dana Farber Cancer Institute for established researcher Dr. [dresnerfoundation.org]
“Being awarded an NIH ME/CFS Center means we have taken on a huge responsibility to the more than one million people affected by this life-limiting disease that has no FDA-approved drugs and a poor prognosis for recovery,” said Maureen Hanson, the Liberty [news.cornell.edu]
Etiology
Research Award #1 Charles Schwartz, PhD Greenwood Genetic Center Snyder-Robinson Syndrome pilot for 53,000 Title: Role of Mitochondria and ROS in Etiology of SRS Dr. [snyder-robinson.org]
Cardiolipin metabolism and its causal role in the etiology of the inherited cardiomyopathy Barth syndrome. Chem Phys Lipids. 2015 Sep 25. pii: S0009-3084(15)30054-2. doi:10.1016/j.chemphyslip.2018.09.005.[Epub ahead of print] Review. [barthsyndrome.ca]
The etiology was infection in 33% and migraine and head trauma in 6% each. No cause was found in 52%. [neurology.org]
Epidemiology
In this important new book leaders in the various fields of glaucoma review our current understanding of glaucoma from epidemiology and genetics through molecular, cellular and tissue responses to the mechanisms of the glaucomas and the mechanisms by [books.google.com]
Ian Lipkin, director of CII and John Snow Professor of Epidemiology at the Mailman School and is one of the NIH’s CRCs for ME/CFS research. [mailman.columbia.edu]
Ian Lipkin, director of CII and John Snow Professor of Epidemiology at the Mailman School and is one of the NIH's ME/CFS CRCs for ME/CFS research. [eurekalert.org]
Her group has used variation in the virus to study the epidemiology of P. destructans, which has very little variation, making it hard to track fungal movement. [news.psu.edu]
ISN Fellows receive hands-on training in advanced host institutions, allowing them to acquire state-of-the-art knowledge in basic and clinical nephrology, dialysis, transplantation, and epidemiology. For more information, click here. [asn-online.org]
Pathophysiology
“Current treatment options for many skin diseases fail to address the underlying causative pathophysiologies, and AZT-02 provides a refreshing new approach to addressing such problems and improving care for NS patients.” [synbiobeta.com]
It actually appears structurally designed (probably inadvertently) to make it difficult for controversial diseases – particularly with diseases like ME/CFS, which lack a clear pathophysiology – to get a leg up. This isn’t easy for them either. [healthrising.org]
Página 79 - Ischaemic nerve injury: experimental studies on intraneural microvascular pathophysiology and nerve function in a limb, subjected to temporary circulatory arrest. [books.google.es]
"Remarkably little research funding has been made available to study the etiology, pathophysiology, and effective treatment of this disease, especially given the number of people affected," the authors noted. [sciencemag.org]
[…] hypomethylation in the chromosome 11p15 imprinting center 1 (IC1); some patients have maternal uniparental disomy of chromosome 7, with the possibility of imprinting (eg, inheriting two copies of maternal chromosome 7, with no paternal contribution). [3, 4, 5] Pathophysiology [emedicine.medscape.com]
Prevention
According to the National Center for Shaken Baby Syndrome, the No. 1 trigger is frustration with a baby’s crying, and a violent overreaction to a child’s wails is 100 percent preventable. [hometownsource.com]
Senate Appropriations Committee, has championed research and prevention of WNS, adding 1 million to this year's FWS science support budget, for a total of 3.5 million. [benningtonbanner.com]
The Conference has the theme of Translating research for the prevention of chronic disease. The 2-day conference is being held at the QT Hotel, Surfers Paradise. [app.secure.griffith.edu.au]
Foundation Fighting Blindness homepage The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa, age-related macular degeneration, [blindness.org]