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Full-Text Articles in Medicine and Health Sciences
Genomic Variability In The Survival Motor Neuron Genes (Smn1 And Smn2): Implications For Spinal Muscular Atrophy Phenotype And Therapeutics Development, Matthew E R Butchbach
Genomic Variability In The Survival Motor Neuron Genes (Smn1 And Smn2): Implications For Spinal Muscular Atrophy Phenotype And Therapeutics Development, Matthew E R Butchbach
Department of Pediatrics Faculty Papers
Spinal muscular atrophy (SMA) is a leading genetic cause of infant death worldwide that is characterized by loss of spinal motor neurons leading to muscle weakness and atrophy. SMA results from the loss of survival motor neuron 1 (SMN1) gene but retention of its paralog SMN2. The copy numbers of SMN1 and SMN2 are variable within the human population with SMN2 copy number inversely correlating with SMA severity. Current therapeutic options for SMA focus on increasing SMN2 expression and alternative splicing so as to increase the amount of SMN protein. Recent work has demonstrated that not all …
Automated Assessment Of Thoracic-Abdominal Asynchrony In Patients With Morquio Syndrome., Madhavi V Ratnagiri, Yan Zhu, Tariq Rahman, Mary Theroux, Shunji Tomatsu, Thomas H Shaffer
Automated Assessment Of Thoracic-Abdominal Asynchrony In Patients With Morquio Syndrome., Madhavi V Ratnagiri, Yan Zhu, Tariq Rahman, Mary Theroux, Shunji Tomatsu, Thomas H Shaffer
Department of Pediatrics Faculty Papers
Morquio syndrome is a rare disease caused by a disorder in the storage of mucopolysaccharides that affects multiple organs, including musculoskeletal, respiratory, cardiovascular, and digestive systems. Respiratory failure is one of the leading causes of mortality in Morquio patients; thus, respiratory function testing is vital to the management of the disease. An automated respiratory assessment methodology using the pneuRIP device and a machine-learning algorithm was developed. pneuRIP is a noninvasive approach that uses differences between thoracic and abdominal movements (thoracic-abdominal asynchrony) during respiration to assess respiratory status. The technique was evaluated on 17 patients with Morquio (9 females and 8 …
A Diagnostic Dilemma Of Antiglutamic Acid Decarboxylase 65 (Anti-Gad 65) And Mycoplasma Pneumoniae Antibodies In A Girl Presenting With Acute-Onset Obsessive-Compulsive Disorder., Cecilia Freeman, Antanoid J Langeveldt, Robyn R Miller
A Diagnostic Dilemma Of Antiglutamic Acid Decarboxylase 65 (Anti-Gad 65) And Mycoplasma Pneumoniae Antibodies In A Girl Presenting With Acute-Onset Obsessive-Compulsive Disorder., Cecilia Freeman, Antanoid J Langeveldt, Robyn R Miller
Department of Pediatrics Faculty Papers
Acute-onset obsessive-compulsive disorder can be challenging, especially when triggered by an underlying disease process. Clinicians often turn to Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS), but it is important to consider a broad differential in these patients. We present a case of a 9-year-old girl with acute-onset obsessive-compulsive behavior likely triggered by a post-infectious phenomenon that ultimately resolved following treatment with plasmapheresis.