Interfamilial phenotypic heterogeneity in SMARD1
Department of Neurology, Evelina Children's Hospital, Lambeth Palace Road, London SE1 7EH, UK.Neuromuscular Disorders (Impact Factor: 2.64). 02/2009; 19(3):193-5. DOI: 10.1016/j.nmd.2008.11.013
Spinal muscular atrophy with respiratory distress (SMARD1: mu-binding protein 2 gene mutation) is characterised by low birth weight, progressive distal limb weakness, diaphragmatic paralysis and subsequent respiratory failure manifesting before 13 months of age. Our case report illustrates marked phenotype variability in two siblings with an identical genetic mutation of SMARD1, one of whom died of fulminant respiratory failure aged 6 months, whereas the other shows limb weakness but, only mild sleep hypoventilation aged 12 years. This suggests other compensatory mechanisms may play a role in modifying SMARD1; broadening our perception of phenotype. Therefore, SMARD1 phenotype should be considered in cases of atypical spinal muscular atrophy even in the absence of overt diaphragmatic weakness.
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- "A few reports describe survival into the second decade, but after infancy, all cases required long term ventilatory support. "
ABSTRACT: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically heterogeneous disorder linked to mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene on chromosome 11q13-q21. Most infants with SMARD1 present between six weeks and six months of age with respiratory distress secondary to diaphragmatic weakness and progressive distal weakness. Sensory and autonomic dysfunctions sometimes accompany the motor weakness. This report describes a male infant with genetically confirmed SMARD1 presenting with onset of disease in the first two weeks of life with respiratory compromise and urinary retention, which has not been reported before and adds to the phenotypic variability of SMARD 1.Journal of Pediatric Neurosciences 09/2012; 7(3):197-9. DOI:10.4103/1817-1745.106478
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ABSTRACT: Hardware for automatic measurement of blood pressure is combined with a set of software modules for the computation of tolerance intervals and blood pressure elevations in the design of a computer-based system for diagnosis of hypertension. This software system may serve to help in prognosis and diagnosis, to initiate treatment if needed, to time treatment when it is more desirable and least harmful in terms of undesired effects, and to gauge the subject's response to treatmentEngineering in Medicine and Biology Society, 1994. Engineering Advances: New Opportunities for Biomedical Engineers. Proceedings of the 16th Annual International Conference of the IEEE; 02/1994
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ABSTRACT: The phenomenon of multiquantum downconversion is of great interest in quantum optics. In the limit of a classical driving field it can be described by an interaction Hamiltonian (in the interaction picture). For k=2 an interaction of this type is of interest in the context of squeezing. For multiquantum processes of higher order (k>2), however, the Hamiltonian is known to lead to a divergent dynamics. This problem is resolved by taking into account the quantization of the pump mode. More recently, the realization of similar interactions also became possible in the quantized motion of a trapped atom, where the operator it represents the annihilation of a motional quantum of the center-of-mass motion. For k=2 such a dynamic has been used to generate motional squeezing, and other interactions of that type have been considered
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