1.Clinical Phenotype of Peripheral Myelin Protein 22 Gene Duplication Abnormality in Charcot-Marie-Tooth Disease
Jing YE ; Hongzhen ZHAI ; Zhangyuan LIAO ; Cunjiang LI
Chinese Journal of Rehabilitation Theory and Practice 2009;15(1):17-18
: 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.
2.Comparison of three anti-aquaporin 4 antibody detection methods in neuromylitis optica
Jing YE ; Zhangyuan LIAO ; Hui SUN ; Xiaofan YOU ; Xiaoli WU ; Cunjiang LI
Chinese Journal of Internal Medicine 2011;50(10):848-850
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.
3.The clinical and magnetic resonance imaging studies of brain damages in neuromyelitis optica
Hui SUN ; Jing YE ; Zhangyuan LIAO ; Cunjiang LI ; Xiaofan YOU ; Kuncheng LI ; Yaou LIU ; Yunyun DUAN
Chinese Journal of Internal Medicine 2011;50(3):193-196
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.
4.Transplantation of perforator flaps: Systematic review of 108 case series
Juyu TANG ; Kanghua LI ; Qiande LIAO ; Hongbo HE ; Zhangyuan LIN ; Jieyu LIANG ; Lin LUO ; Panfeng WU ; Dajiang SONG
Chinese Journal of Microsurgery 2010;33(3):186-189,后插1
Objective To explore the clinical outcome of perforator flaps for reconstruction of limb soft tissue defects. Methods In this case series, from 2007 July to 2009 May, 108 cases of perforator flap to reconstruct the defects of the extremities were performed, of these, 98 were free perforator flaps, 10 were pedicled flaps. The perforator flaps included deep inferior epigastric artery perforator flap, anterolateral thigh perforator flap, thoracodorsal artery perforator flap, lateral thigh perforator flap, posterior interosseous artery perforator flap, collateral radial artery perforator flap, medial sural artery perforator flap, posterior tibial artery perforator flap, deep circumflex iliac artery perforator flap and peroneal artery perforator flap. The maximum size of the perforator flap was 44 cmx 9 cm, the minimum size of the perforator flap was 4 em x 2 cm.The donor defect was closed directly. Results Venous congestion occurred in 5 flaps, in 1 case venous congestion was overcomed after released the dressing, 4 flaps requiring reexploration for venous insufficiency,2 had a successful outcome, the other 2 flaps failed . The other 103 flaps were successful. The wounds healed without any infection complications. The follow-up ranges from 6-24 months( 10 months on average). The flaps were of good appearance and not bulky; there were only linear scars on the donor sites, the cosmesis and function of the donor sites were satisfying. Conclusion The muscle, deep fascia and motor nerve are not contained in the flap, the advantages of this type of flap is reducing morbidity of the donor site and its reliable blood supply and suitable thickness for resurfacing, no secondary debuiking is necessary. The perforator flaps can be chosen as the first option to deal with superficial extremity wounds.
5.Treatment of Tile B pelvic fracture by external fixator combined with limited internal fixation.
Kanghua LI ; Yusheng LI ; Renjie LI ; Zhangyuan LIN ; Guanghua LEI ; Qiande LIAO
Journal of Central South University(Medical Sciences) 2010;35(6):630-633
OBJECTIVE:
To determine the effectiveness of external fixator combined with limited internal fixation for Tile B pelvic fractures.
METHODS:
Fourteen patients with Tile B pelvic fracture were treated by external fixator combined with limited internal fixation between September 2004 and June 2009.
RESULTS:
All the patients were followed for 6-49 (20.2 +/- 10.2) months. According to the Matta standard, the outcome of 9 patients was excellent, 4 patients were good, while the other one patient was fair.
CONCLUSION
External fixator combined with limited internal fixation is effective for Tile B pelvic fracture. It can not only reduce the anatomic position of the pelvis, but also strengthen the stability of the pelvis as a whole. This method is less invasive and traumatic, which promotes the recovery of patients.
Adult
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External Fixators
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Female
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Fracture Fixation
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methods
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Fracture Fixation, Internal
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methods
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Fractures, Bone
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surgery
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Humans
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Male
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Middle Aged
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Pelvic Bones
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injuries
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surgery
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Young Adult