Tabor A, Alfirevic Z. Update on procedurerelated risks for prenatal diagnosis techniques. Fetal Diagn Ther. ... Small heatshock protein 22 mutated in autosomal dominant Charcot −Marie−Tooth disease type 2 L. Hum Genet.
Schaumburg HH, Wisniewski H, Spencer PS. Ultrastructural studies of the dyingback process I Peripheral nerve terminal and axon degeneration in systemic acrylamide intoxication. J Neuropathol Exp Neurol. 1974;33:260.
Grinspan JB, Marchionni MA, Reeves M, et al. Axonal interactions regulate Schwann cell apoptosis in developing peripheral nerve: neuregulin receptors and the role of neuregulins. J Neurosci. 1996;16:6107–6118. Guilbot A, Williams A, ...
Physiology and pathophysiology of myelinated nerve fibers Matthew C. Kiernan, Ryuji Kaji ... and the impedance mismatch at the demyelinated heminode must be corrected by insertion of short internodes (Waxman and Brill, 1978).
Due to the radiation exposure and limited sensitivity in soft tissue contrast, computed-tomography (CT) plays no significant role in the diagnostic work-up of PN disorders.
Peripheral neuropathies are the most common neurological manifestations occurring in HIV-infected individuals.
This chapter reviews the clinical, electrophysiological, and pathological features of these conditions and provides clinicians with approaches toward diagnosing and investigating ICUAW.
The identification of autoantibodies associated with dysimmune neuropathies was a major contribution to the characterization of peripheral nerve disorders, the understanding of their pathophysiology, and the clinical diagnosis of ...
Diabetes is the most common cause of peripheral neuropathy in the world. Both type 1 (insulin-dependent) and type 2 diabetes are commonly complicated by peripheral nerve disorders.
Advances in understanding the combined metabolic stressors and the novel study of epigenetics suggest new therapeutic targets to combat this morbid and intractable disease affecting millions of patients with type 1 or type 2 diabetes.
Surgical pathology of the peripheral nervous system includes traumatic injury, entrapment syndromes, and tumors.
Peripheral Nerve Disorders: Pathology and Genetics is a definitive, clinically-oriented guide to the pathology of peripheral nerve disorders.
Table 12.1 Continued Type Gene/locus Specific phenotype 1X-linked CMT Males CMT1 (þ/À patchy MCVs)/Females CMT2 ... GUIDE TO GENETIC TESTING Charcot–Marie–Tooth disease type 1 AUTOSOMAL DOMINANT CHARCOTÀMARIEÀTOOTH DISEASE TYPE 1 The ...
Recent progress in serological screening of paraneoplastic antibodies and in diagnostic imaging techniques to detect malignancies has enabled a broadening of the concept of paraneoplastic neurological syndromes by integrating nonclassic ...
Vasculitis is a primary phenomenon in autoimmune diseases such as polyarteritis nodosa, Wegener’s granulomatosis, Churg–Strauss syndrome, microscopic polyangiitis, and essential mixed cryoglobulinemia.
Chronic axonal polyneuropathies are very frequently encountered by physicians.