Paula is currently director of physical therapy at Canton Physical Therapy‚ is a member of the American Physical Therapy Association (APTA)‚ the International Society on Scoliosis Orthopaedic and Rehabilitation Treatment (SOSORT)‚ the National Scoliosis Foundation (NSF) and is Vice President of Statistical Patient Input (SPI)‚ a non-profit research foundation. Physical therapist for Earl Mosely’s Institute of the Arts summer program in Kent‚ CT 2010 to present
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Osteogenesis Imperfecta: Brittle Bone Disease Sami Gizara Lakeland High School Honors Biology Block 6 March 10‚ 2013 Current Applications in Science Abstract (Summary and Background) Osteogenesis Imperfecta was a severe‚ congenital genetic disorder which can cause the human bones to be extremely delicate. This disease is caused by a mutation(whether it be deletion or duplication) in chromosome 17q21‚ 31-q22‚ 7q22.1‚ which are the chromosomes that help the body produce the proteins
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The Use of Ways of Knowing in a Clinical Scenario Fabiola Benoit Saint Joseph’s College Abstract The use of ways of knowing is assumed to be a valid and necessary strategy in providing adequate care in the nursing field. Carper has developed four ways of knowing that has become essential in a nurses every day practice. Carper’s four fundamental patterns of knowing are defined as empirical‚ ethical‚ personal and aesthetic. Empirical knowledge is defined as the science of nursing. Aesthetic knowledge
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Sotos Syndrome‚ Pediatric Sotos syndrome is a disorder that results in increased growth during childhood‚ clumsiness‚ and delay in mental development. Over time‚ many children with Sotos syndrome catch up in mental development. Physical growth eventually slows down. By puberty‚ most children with Sotos syndrome are similar in size to other children their age. Most children with this disorder grow up and lead normal lives. CAUSES The cause of Sotos syndrome is a mutation in a gene. The gene
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skeletal muscles and hardens their ability to contract with ease. Signs and symptoms • poor muscle tone (hypotonia) • weakness in muscles (often in facial muscles) • Muscle cramps • skeletal deformities such as joint dislocations and scoliosis • Delayed physical development • Delay in walking and climbing • Mild muscle wasting Causes/Transmission/Prevention • Central Core Disease is often caused by defects in a gene called ryanodine receptor‚ which carries the directions to
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(1) Spondylocarpotarsal synostosis syndrome (SCT‚ OMIM 272460) Spondylocarpotarsal synostosis syndrome was characterized by the following features: fused vertebrae malformation including scoliosis and lordosis‚ and fused carpal and tarsal joints. Two brothers with recessively inherited scoliosis with unilateral unsegmented bar were first reported by Langer et al. in 1975 (Langer and Moe‚
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All About My Scoliosis: A few years ago I had a checkup with the Doctor. And I had to do those bending and she would check my spine to make sure it was ok and straight. But when she did‚ she noticed that my spine was curvy and I needed an x-Ray to make sure if I had to go see a specialist or not. So I took an x-ray and believe I either had to wait at the doctors for the results or I’ll get news back soon. As soon as I did get the results‚ they announced me of having Scoliosis. Scoliosis is an abnormal
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just another hurdle they have to get over. A muscle disease is Central Core Disease (CDC). CDC is a rare genetic disease from birth where the infant has weak muscles. Weak muscles cause the infant to have skeletal problems later in life such as scoliosis. If the CDC symptoms are mild‚ it may go unnoticed‚ but patients with severe CDC have symptoms such as “floppiness” in infants. The “floppiness” in infants is because the muscle tone is very small and almost nonexistent. Near 50% of all pregnancies
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skills‚ loss of strength in a muslce/group of muscles‚ loss in muscle size‚ difficulty of using more than one muscle group‚ and possible mental retardation(only present in some cases of muscular dystrophy). In some cases‚ it is even known to cause scoliosis. Muscular dystrophy is connected to genetics in many ways. One being in Duchenne muscular dystrophy; for the mutation occurs in the DMD gene‚ responsible for making the Dystopihin protein‚ which can be found on the X-Chromosome. The mutation
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in the formation or segmentation of the spine. Klippel–Feil syndrome can be identified by shortness of the neck. Those with the syndrome have a very low hairline and the ability of the neck to move is limited or none. Some symptoms include: Scoliosis‚ which is a side-to-side curve of the spine‚ which is abnormal. The spine sometimes appears as a “C” or an “S”. Spina bifida is when the spinal canal and the back bone do not close completely during birth. Cleft Palate‚ which is a hole in the
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