Spinal muscular atropy

Objectives: To determine whether children with neuromuscular disorders using long-term noninvasive ventilation (NIV), continuous or bilevel positive airway pressure, have improved health outcomes compared with alternative treatment strategies. Data Sources: This systematic review is an extension of a scoping review. The search strategy used Medical Subject Headings and free-text terms for "child" and "noninvasive ventilation." Studies of humans from 1990 onward were searched in MEDLINE (Ovid), Embase (Ovid), CINAHL (Ebsco), Cochrane Library (Wiley), and PubMed...

Intraneural hemangiomas are rare benign neoplasms. We report the case of a 53‑year‑old female with a hemangioma in a spinal nerve root. The patient presented with muscular atropy of the right arm wihout obvious predisposing factors one year ago. MRI demonstrated a heterogeneously enhanced lesion adjacent to the right C4/5 intervertebral foramen. The lesion was considered to be a schwannoma preoperatively. Histologically, the lesion was abundant with intervening malformed vascular mass lined by simple squamous epithelial cells, and CD31 was positively stained at these epithelial cells by immunohistochemistry...

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A spectral-multiplexed fluorescence contact imaging microsystem for DNA analysis is presented. The microsystem integrates a filterless CMOS Color PhotoGate (CPG) sensor that exploits the polysilicon gate as an optical filter, and therefore does not require an external color filter. The CPG is applied to fluorescence-based transduction in a spectrally multiplexed format by differentiating among multiple emission bands, hence replacing the functionality of a bank of emission filters. A microsystem has been quantitatively modeled and prototyped based on the CPG fabricated in a standard 0...

Spinal muscular atropy (SMA) is the major genetic disease leading to childhood mortality and is caused by mutations in or deletions of the smn1 gene. The human survival of motor neurons (SMN) protein encoded by this gene plays an important role in the assembly of snRNPs (small nuclear ribonucleoprotein complexes) via binding to the spliceosomal Sm proteins. The tails of these Sm proteins contain symmetrically dimethylated arginines that are recognized by the central SMN Tudor domain. To gain insight in the molecular basis of this specific interaction, the SMN Tudor domain has been crystallized...

Apoptosis is an essential physiological cell death for selective elimination of cells, involved in a variety of biological events including morphogenesis, cell turn over and removal of harmful cells. Disruption of the regulation of apoptosis may result in various diseases, including cancer and autoimmune diseases both associated with inhibition of apoptosis and various degenerative disorders associated with enhancement of apoptosis, and therefore, apoptosis is an important theme in the medical field. Apoptosis is driven by a family of cysteine proteases, called caspases and regulated by a Bcl-2 family of proteins, which is the best characterized apoptosis regulators...