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Pei G.,PLA Fourth Military Medical University | Xiang D.,Southern Medical University | Gu L.,Sun Yat Sen University | Wang G.,Southern Medical University | And 8 more authors.
Transplantation | Year: 2012

Background: Limb allotransplantation is emerging as a promising solution to the loss of a limb with the development of advanced surgical techniques and new, highly effective immunosuppressive agents. Methods: We retrospectively reviewed the records of 15 hand allotransplantations in 12 patients in China which were performed from September 1999 to May 2008. Results: In total, there were 1 bilateral and 5 unilateral hand transplantations, 3 unilateral and 2 bilateral forearm transplantations, and 1 palm and 1 thumb transplantation. The average age of recipients was 34 ± 11.3 years (range, 19-52 years). At 1-year follow-up, all grafts were viable and with good function. Of the 15 hands transplanted, 8 are currently viable (mean follow-up, 52 ± 36.3 months; range, 16-112 months), including all 3 bilateral cases. Reasons for graft failure were rejection and failure of compliance with immunosuppressive therapy. Conclusions: Long-term survival of hand transplantation with appropriate immunosuppression is feasible, and satisfactory functional Results have been achieved. Careful pretransplant psychologic and social evaluation, consideration of the financial burden of long-term immunosuppressive medications, and close multispecialty collaboration is critical for good outcomes. Limb rejection was related with immunosuppression use. Further study and experience is required before hand allotransplantation can become a generally recommended treatment. © 2012 Lippincott Williams & Wilkins. Source


Huang Y.,First Hospital of Yunnan Province
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery | Year: 2010

To explore a method for locating the area of lacrimal sac in dacryocystorhinostomy under endoscopy. Sixty-eight patients were performed dacryocystorhinostomy under endoscopy. Take light spot of ocular optic fiber as the lacrimal sac projection to the lateral wall of the nasal cavity position. With the guiding of ocular optic fiber, lacrimal sac can be located accurately. The operating time of dacryocystorhinostomy under endoscopy was shortened significantly, and the operation procedure was simplified. All patients were followed up for 2 years, only 2 recurrent cases were found. The success rate reach to 97.06% (66/68). Ocular optical fiber used in locating the lacrimal sac in dacryocystorhinostomy under endoscopy is simple and feasible, and can be widely used. Source


Zhao Y.,Kunming University of Science and Technology | Feng Y.,Kunming University of Science and Technology | Zhang Y.-M.,First Hospital of Yunnan Province | Ding X.-X.,First Hospital of Yunnan Province | And 6 more authors.
BioMed Research International | Year: 2015

As a common cardiac disease mainly caused by gene mutations in sarcomeric cytoskeletal, calcium-handling, nuclear envelope, desmosomal, and transcription factor genes, inherited cardiomyopathy is becoming one of the major etiological factors of sudden cardiac death (SCD) and heart failure (HF). This disease is characterized by remarkable genetic heterogeneity, which makes it difficult to screen for pathogenic mutations using Sanger sequencing. In the present study, three probands, one with familial hypertrophic cardiomyopathy (FHCM) and two with familial dilated cardiomyopathy (FDCM), were recruited together with their respective family members. Using next-generation sequencing technology (NGS), 24 genes frequently known to be related to inherited cardiomyopathy were screened. Two hot spots (TNNI3-p.Arg145Gly, and LMNA-p.Arg190Trp) and double (LMNA-p.Arg190Trp plus MYH7-p.Arg1045His) heterozygous mutations were found to be highly correlated with familial cardiomyopathy. FDCM patients with doubly heterozygous mutations show a notably severe phenotype as we could confirm in our study; this indicates that the double mutations had a dose effect. In addition, it is proposed that genetic testing using NGS technology can be used as a cost-effective screening tool and help guide the treatment of patients with familial cardiomyopathy particularly regarding the risk of family members who are clinically asymptomatic. © 2015 Yue Zhao et al. Source


Zhao Y.,Kunming University of Science and Technology | Feng Y.,Kunming University of Science and Technology | Zhang Y.-M.,First Hospital of Yunnan Province | Ding X.-X.,First Hospital of Yunnan Province | And 6 more authors.
International Journal of Molecular Medicine | Year: 2015

Dilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure, and it is characterized by genetic and clinical heterogeneity, even for some patients with a very poor clinical prognosis; in the majority of cases, DCM necessitates a heart transplant. Genetic mutations have long been considered to be associated with this disease. At present, mutations in over 50 genes related to DCM have been documented. This study was carried out to elucidate the characteristics of gene mutations in patients with DCM. The candidate genes that may cause DCM include MYBPC3, MYH6, MYH7, LMNA, TNNT2, TNNI3, MYPN, MYL3, TPM1, SCN5A, DES, ACTC1 and RBM20. Using next-generation sequencing (NGS) and subsequent mutation confirmation with traditional capillary Sanger sequencing analysis, possible causative non-synonymous mutations were identified in ~57% (12/21) of patients with DCM. As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM. The mutations were most frequently found in the sarcomere (MYH6, MYBPC3, MYH7, TNNC1, TNNT2 and MYL3) and cytoskeletal (MYPN, DES and VCL) genes. As genetic testing is a useful tool in the clinical management of disease, testing for pathogenic mutations is beneficial to the treatment of patients with DCM and may assist in predicting disease risk for their family members before the onset of symptoms. © Spandidos Publications 2015. Source


Zhao Y.,Kunming University of Science and Technology | Cao H.,First Hospital of Yunnan Province | Song Y.,First Hospital of Yunnan Province | Feng Y.,Kunming University of Science and Technology | And 6 more authors.
International Journal of Molecular Medicine | Year: 2016

Inherited cardiomyopathy is the major cause of sudden cardiac death (SCD) and heart failure (HF). The disease is associated with extensive genetic heterogeneity; pathogenic mutations in cardiac sarcomere protein genes, cytoskeletal protein genes and nuclear envelope protein genes have been linked to its etiology. Early diagnosis is conducive to clinical monitoring and allows for presymptomatic interventions as needed. In the present study, the entire coding sequences and flanking regions of 12 major disease (cardiomyopathy)-related genes [namely myosin, heavy chain 7, cardiac muscle, (MYH7); myosin binding protein C, cardiac (MYBPC3); lamin A/C (LMNA); troponin I type 3 (cardiac) (TNNI3); troponin T type 2 (cardiac) (TNNT2); actin, cardiac muscle 1 (ACTC1); tropomyosin 1 () (TPM1); sodium channel, voltage gated, type V alpha subunit (SCN5A); myosin, light chain 2, regulatory, cardiac, slow (MYL2); myosin, heavy chain 6, cardiac muscle, (MYH6); myosin, light chain 3, alkali, ventricular, skeletal, slow (MYL3); and protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2)] in 8 patients with dilated cardiomyopathy (DCM) and in 8 patients with hypertrophic cardiomyopathy (HCM) were amplified and then sequenced using the Ion Torrent Personal Genome Machine (PGM) system. As a result, a novel heterozygous mutation (MYH7, p.Asn885Thr) and a variant of uncertain significance (TNNT2, p.Arg296His) were identified in 2 patients with HCM. These 2 missense mutations, which were absent in the samples obtained from the 200 healthy control subjects, altered the amino acid that was evolutionarily conserved among a number of vertebrate species; this illustrates that these 2 non-synonymous mutations play a role in the pathogenesis of HCM. Moreover, a double heterozygous mutation (PRKAG2, p.Gly100Ser plus MYH7, p.Arg719Trp) was identified in a patient with severe familial HCM, for the first time to the best of our knowledge. This patient provided us with more information regarding the genotype-phenotype correlation between mutations of MYH7 and PRKAG2. Taken together, these findings provide insight into the molecular mechanisms underlying inherited cardiomyopathy. The mutations identified in this study may be further investigated in the future in order to improve the diagnosis and treatment of patients with inherited cardiomyopathy. Furthermore, our findings indicated that sequencing using the Ion Torrent PGM system is a useful approach for the identification of pathogenic mutations associated with inherited cardiomyopathy, and it may be used for the risk evaluation of individuals with a possible susceptibility to inherited cardiomyopathy. Source

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