Comparison of three anti-aquaporin 4 antibody detection methods in neuromylitis optica / 中华内科杂志

ObjectiveTo evaluate three methods of detecting anti-aquaporin 4 (AQP4) antibody in neuromylitis optica (NMO),including indirect immunofluorescence assay organization(IIF),cell immunofluorescence method (CBA) and ELISA.MethodsThe patients were divided into NMO group (n =29), multiple sclerosis (MS) group (n = 23),and healthy controls group (n = 50).IIF, CBA and ELISA were used in 3 groups to detect serum anti-AQP4 antibody.The sensitivity and specificity as well as the consistency of positive results were compared.ResultsIn the aspect of the sensitivity of the three antiAQP4 antibody to diagnosis NMO, CBA (72.4％) ＞ IIF (62.1％) ＞ ELISA (51.7％) ; in the aspect of specificity, CBA (100.0％) ＞ ELISA (98.6％) ＞ IIF (97.3％).Kappa testing and evaluation method showed that the three detection methods were all in good consistency, particular in CBA and ELISA (P ＜0.01).ConclusionsCBA method showed a highest specificity and sensitivity in all these three anti-AQP4 antibody detection methods.CBA and ELISA are in better consistency of positive results.

The clinical and magnetic resonance imaging studies of brain damages in neuromyelitis optica / 中华内科杂志

Objective To investigate the feature brain damage and clinical manifestations in neuromyelitis optica (NMO) patients; To investigate the relationship between serum NMO-IgG antibody and NMO brain damage. Methods Clinical data of 37 NMO patients and their head and spinal cord MRI by 1.5T superconducting MR scanner, were analyzed; serum NMO-IgG antibody were measured by immunofluorescence. Results 17 cases were found to have abnormal signals on MRI, which were mainly in the white matter, pons, medulla, ventricle, aqueduct, and around the corpus callosum; According to pathological changes, brain damage can be divided into scattered irregularity (13 cases), fusion (3 cases),multiple sclerosis-like (1 case) ,with scattered irregularity more common,5 cases had clinical manifestations of brain damage: somnolence, vomiting, diplopia, visual rotation, 11 cases patients with brainstem damage show positive serum NMO-IgG antibodies. Conclusions Brain damage can be seen in half of NMO patients, they often located in the high expression area of AQP4: brain white matter, periventricular,brainstem and so on. Clinical symptoms has nothing to do with the size of lesions but the location, they often occur when brainstem was involved. Serum NMO-IgG is helpful in differentiating NMO with brain damage and MS.

Clinical Phenotype of Peripheral Myelin Protein 22 Gene Duplication Abnormality in Charcot-Marie-Tooth Disease / 中国康复理论与实践

@#: Objective To analyse the characteristics of symptoms, signs and electrophysiology in Charcot-Marie-Tooth disease (CMT) with peripheral myelin protein 22 (PMP22) gene duplication abnormality.Methods 61 patients with CMT, 14 patients with family history and 47 sporadic patients were included. PMP22 gene duplication fragment was detected with PCR-double enzyme cutting assay. Medical history, signs were collected. Some of them received lumbar puncture and sural nerve pathological examination. Results The main clinical manifestation of the patients with PMP22 gene duplication abnormlity were asthenia of both lower extremities, especially dorsiflexion of foot, accompanied with distal atrophy (especially bilateral legs), some with upper extremity distal atrophy, ankle hyporeflexia or vanished and sensory disturbance. Protein in cerebrospinal fluid may increase, giant potential and conduction velocity of sensory and motor nerve decreased. Sural nerve biopsies revealed demyelination accompanied with axonal degeneration.Conclusion The main clinical manifestation of patients with PMP22 gene duplication abnormlity is charactered as the distal atrophy and asthenia of lower limbs, accompanied with sensory abnormlity. Myelin sheath and axonal alteration were found in electromyogram and peripheral nerve pathology.