Background Tuberous Sclerosis Complex (TSC), and Spinal Muscular Atrophy (SMA) are two inherited disorders while they are genetically independent. TSC is characterized by the formation of multiple hamartomas in nearly all organs. SMA is a destructive neurological disorder leading to progressive muscular weakness and atrophy. Case Presentation</e...

spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disorder caused by the loss of α-motor neurons in the spinal cord. the survival motor neuron (smn) protein is encoded by 2 genes, smn1 and smn2. the most frequent mutation is the biallelic deletion of exon 7 of the smn1 gene. smn2 cannot compensate for the loss of smn1, due to the exclusion of exon 7. carrier frequency ...

BACKGROUND To realize atraumatic vessel occlusion, a new hemostatic clamp using superelastic shape memory alloy (SMA) as a pressure control limiter has been proposed. It was designed taking advantage of a unique mechanical property of SMA. The ability to control pressure with the newly designed SMA clamp was investigated. The traumatic effect on vessel walls was evaluated in order to confirm th...

OBJECTIVE To gain further insight into disease pathophysiologic process and potential adaptations through investigating whether cortical dysfunction or plasticity is a feature of spinal muscle atrophy (SMA). DESIGN Prospective, double-center study. SETTING Outpatient clinics and research institute. PARTICIPANTS Clinical assessments, combined with threshold-tracking transcranial magnetic s...

Proximal spinal muscular atrophy (SMA) is a common autosomal recessively inherited neuromuscular disorder determined by functional impairment of alpha-motor neurons within the spinal cord. SMA is caused by functional loss of the survival motor neuron gene 1 (SMN1), whereas disease severity is mainly influenced by the number of SMN2 copies. SMN2, which produces only low levels of full-length mRN...

superior mesenteric artery (sma) aneurysm is a rare disease. in this case report, we present a 32 years old woman who was admitted to our hospital with chronic abdominal pain. sma aneurysm was diagnosed after radiological evaluation. the patient underwent ligation of the superior mesenteric artery aneurysm and remained well 12 months after the surgery.

M. Kelemen, I. Virgala, E. Prada, T. Lipták Faculty of Mechanical Engineering, Technical University of Košice, Slovakia Th e paper deals with Shape memory alloy (SMA) spring analysis and its possibility for usage as actuator for in-pipe machine. In the paper the inner structure of SMA is introduced. Further, the experimental analysis of SMA contractor and expander was done. From the experiments...

OBJECTIVE To investigate the potential association of plastin 3 (PLS3) expression levels in the blood with disease severity in spinal muscular atrophy (SMA). DESIGN Measurement of PLS3 messenger RNA levels in the blood of patients with types I, II, and III SMA. SETTING Pediatric Neuromuscular Clinical Research Network SMA Natural History study. PARTICIPANTS A cohort of 88 patients of both...

INTRODUCTION Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by degeneration of spinal cord anterior horn cells, leading to muscular atrophy. It is the second most frequent autosomal recessive disease among Caucasian populations with a prevalence of between 1 in 6000 and 1 in 10,000 live births, and a carrier frequency of about 1 in 50. The Internati...

To evaluate the distribution of alpha-smooth muscle actin (alpha-SMA) positive cells in various liver diseases, we undertook an immunohistochemical study of liver diseases including chronic persistent hepatitis, chronic active hepatitis, liver cirrhosis, intrahepatic cholelithiasis and hepatocellular carcinoma. As a control, fetal livers (gestational age: 22-26 weeks) showed alpha-SMA positive ...