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R82 Mustang Walking Aid: Case Study - Tommy with Tuberous Sclerosis Complex
R82 Mustang Walking Aid: Case Study - Tommy with Tuberous Sclerosis Complex administrator 1 Views • 2 years ago

Frances George, Specialist Physiotherapist, MSc, BSc, HPC, MCSP, talks us through Tommy's case study and how the Mustang walking aid is helping his walking progress.
http://bit.ly/1pX6otA

The Mustang is a walking aid for disabled children and youngsters, who need supplementary assistance with their daily walking.

The Mustang provides excellent and snug support for the upper body whilst also keeping the child’s pelvis gently supported. The upright, slightly forward leaning position stimulates the walking function and encourages the child to participate in daily activities.

The Mustang can be used by e.g. CP children and others with lack of balance and impairment of their motor function. The Mustang is developed as a basic anterior walker but can also be used as a posterior gait trainer, depending on the child’s level of ability.

The Mustang is available in four sizes and suitable for children and young people.

For further information please visit http://www.r82.co.uk/, email via http://www.r82.co.uk/contact/c....ontact-us/send-us-a- or call 0121 561 2222

Webinar: Understanding the genetics of Tuberous Sclerosis
Webinar: Understanding the genetics of Tuberous Sclerosis administrator 1 Views • 2 years ago

Recording of our webinar from August 2017.
Understanding the Genetics of TSC and the importance of lifelong surveillance
Presented by Dr Chirag Patel, Clinical Geneticist, Queensland Clinical Genetics.
Hear about the genetics of TSC, including what we know and what questions researchers are still exploring. Learn about genetic testing and how to access genetic services in your area. Find out about current and emerging technologies that can help people with TSC make decisions about planning their families.
Tuberous Sclerosis
Tuberous Sclerosis administrator 1 Views • 2 years ago

11-year-old male with chronic seizures. The axial T1-weighted images demonstrate nodular regions of isointense signal to deep white matter along the lateral ventricular margins at the level of the frontal horns. A sagittal off midline T1-weighted image redemonstrates the nodular regions of T1 isointense signal along the ventricular margins as well as a small focal region of encephalomalacia in the body of the corpus callosum. There are linear, bandlike, T2/FLAIR hyperintense regions in the subcortical and deep white matter of the cerebral hemispheres, right greater than left. Scattered regions of susceptibility are identified in the sub- and juxtacortical white matter of both the right and left cerebral hemispheres. Postcontrast images demonstrate nodular regions of enhancement in the subcortical white matter as well as enhancing nodules along the ependymal margins of the frontal horns of the lateral ventricles. The spectrum of findings are classic for tuberous sclerosis. Tuberous sclerosis falls in the category of phakomatosis or neuro-oculocutaneous syndromes which include neurofibromatosis, ataxia telengectasia, Sturge-Weber syndrome, von Hippel-Lindau disease and Nevoid basal cell carcinoma syndrome, among others. Clinical presentation typically includes seizures, mental retardation, and adenoma sebaceum. Tuberous sclerosis results from mutations in tumor suppressor genes, TSC1 which is on chromosome 9 and TSC2, chromosome 16. 15NMR261

For more, visit our website at http://ctisus.com

Tuberous Sclerosis and Dermatology
Tuberous Sclerosis and Dermatology administrator 1 Views • 2 years ago

Le Bonheur Dermatologist Teresa Wright, MD, discusses common dermatology concerns for children with tuberous sclerosis complex (TSC).
Tuberous sclerosis- Inside out
Tuberous sclerosis- Inside out administrator 1 Views • 2 years ago

The video explains the pathology of tuberous sclerosis and verious dermatological and radiological signs which are seen in tuberous sclerosis
Centers of Excellence for Tuberous Sclerosis Complex
Centers of Excellence for Tuberous Sclerosis Complex administrator 6 Views • 2 years ago

James Wheless, MD, of the University of Tennessee Health Science Center reminds patients with tuberous sclerosis complex (TSC) that revisiting a medical center focused on TSC can greatly improve a patient's quality of life due to the numerous advances that have been made in our understanding of this rare condition.
Tuberous Sclerosis and Development
Tuberous Sclerosis and Development administrator 1 Views • 2 years ago

Le Bonheur Neuropsychologist Billy Holcombe, PhD, discusses common questions and concerns around tuberous sclerosis complex and developmental function.
Competing Against the Odds: Ryan Groves, who has tuberous sclerosis complex
Competing Against the Odds: Ryan Groves, who has tuberous sclerosis complex administrator 1 Views • 2 years ago

Interviews with Special Olympics athlete Ryan Groves, who has tuberous sclerosis complex, and his family.
New Guidelines and Trials for Tuberous Sclerosis Complex
New Guidelines and Trials for Tuberous Sclerosis Complex administrator 3 Views • 2 years ago

Tuberous sclerosis complex (TSC) is a genetic disorder that causes non-malignant tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. Symptoms vary but the ones most commonly associated TSC are the central ones including, seizures, developmental delay, intellectual disability and autism.

At the 2013 DIA NORD Conference on Rare Diseases & Orphan Drugs, we had the privilege of talking to Kari Luther Rosbeck, President and CEO of the Tuberous Sclerosis Alliance. In this interview, Kari talks about the recent consensus guidelines on the diagnosis, surveillance, and treatment of TSC that were published in the October issue of Pediatric Neurology. These guidelines are available at http://[a]www.tsalliance.org%2Fconsensus[/a] . Kari also discussed the multicenter clinical research network that has begun two NIH funded clinical trials.
At present there is cure for TSC however Afinitor (everolimus) is approved to treat
1) Patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis who require therapeutic intervention but are not candidates for curative surgical resection
2) Treatment of adults with renal angiomyolipoma and TSC not requiring immediate surgery.
For more information about the Alliance, visit www.tsalliance.org

Dr. Bissler leads Tuberous Sclerosis Center of Excellence
Dr. Bissler leads Tuberous Sclerosis Center of Excellence administrator 1 Views • 2 years ago

Le Bonheur's Tuberous Sclerosis Center of Excellence provides the highest level of clinical care and research of Tuberous Sclerosis Complex (TSC), a genetic disorder that causes tumor growth in organs throughout the body.
Comprehensive clinic. Designated by the national Tuberous Sclerosis Alliance, Le Bonheur's multidisciplinary clinic gives patients access to pediatric experts in cardiology, neurology, pulmonology and urology in one setting -- from childhood into adulthood.
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