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Semithin toluidine blue stained cross-section shows marked depletion of myelinated nerve fibers. Many remaining fibers have thin myelin sheaths. x 660. (Contributed by Dr. Florian Thomas.)
Jun. 20, 2021
Charcot-Marie-Tooth disease type 1A is characterized by childhood onset and progressive peripheral nerve manifestations with distal dominant weakness, sensory loss, and limb deformities. Demyelinating changes are also characteristic. Mutations in the peripheral myelin protein 22 gene are the cause.
Jul. 19, 2021
Childhood Degenerative & Metabolic Disorders
Phenylketonuria is caused by deficient activity of phenylalanine hydroxylase, an enzyme in the intermediary metabolism of the amino acid, phenylalanine, and is one of the most common inborn errors of metabolism. Untreated phenylketonuria produces the gradual onset of profound developmental disability in most, but not all, individuals. Neonatal screening allows for the early detection and treatment of infants with the disorder.
Apr. 01, 2021
Measuring severity of disease and changes in disease state over time is critical for evaluating treatments and providing prognosis. When evaluating
Jun. 04, 2018
Neuromuscular conditions that affect women during pregnancy are diverse. Disorders that initially present during pregnancy include Bell palsy, carpal tunnel syndrome, radiculopathy, and lower extremity mononeuropathies. Additionally, there are important considerations to be aware of in pregnant women with neuromuscular disorders such as hereditary neuropathies, myasthenia gravis, myopathy, and motor neuron disease.
Jul. 10, 2020
Oct. 13, 2020
Neuropharmacology & Neurotherapeutics
There is no satisfactory method for treating glioblastoma. Gene therapy is one of the promising innovative approaches. Some gene therapy strategies such as RNA interference may enhance the effect of concomitant chemotherapy. Innovative strategies for glioblastoma that are promising include targeted gene therapy delivered by nanoparticles.
Aug. 24, 2021
Patients with new spinal cord injuries have unique challenges that are best addressed in an inpatient rehabilitation setting. The patient’s functional goals should be based on their level of injury. There are multiple medical issues the physician should evaluate and patients should familiarize themselves with, including pain, spasticity, neurogenic bowel or bladder, pressure injuries, autonomic dysreflexia, and pulmonary compromise.
Jun. 14, 2021