ABSTRACT
OBJECTIVE@#To determine GJB2 allelic mutant and estimate probability of hereditary hearing loss in newborn with GJB2 heterozygous mutation in Beijing.@*METHOD@#We performed genetic testing for sequencing of GJB2 gene for searching GJB2 allelic mutant in 915 newborn who received newborn deafness gene screening (GJB2 c. 235delC, GJB2 c. 299_300delAT, GJB2 c. 176191del16, GJB2 c. 35delG) in Beijing Tongren hospital, and the mutation were classified to pathogenic mutation,undefined variant and polymorphism.@*RESULT@#Four hundred (43.72%, 400/915) newborn were detected to carry at least one mutation allele in GJB2. 3 (0.33%, 3/915) newborn had pathogenic mutations (c. 94C>T, c. 380G>T, c. 344T>G); 62 (6.76%, 62/915) newborn carried 14 undefined variant, 36 newborn had c. 109G>A (58.06%, 36/62),13 newborn had c. 368C>A (20.97%,13/62), six (c. 268C>G, c. 282C>T, c. 294G>C, 456C>T, c. 501G>A, c. 587T>C) are novel; 335 (36.61%, 335/915) newborn were polymorphism.@*CONCLUSION@#The probability of hereditary hearing loss is 7.09% in newborn with GJB2 heterozygous mutation in Beijing. It is noteworthy that c. 109G>A, c. 368C>A occupy a high proportion.
Subject(s)
Humans , Infant, Newborn , Alleles , Beijing , Connexin 26 , Connexins , Genetics , DNA Mutational Analysis , Deafness , Genetics , Genetic Testing , Heterozygote , Mutation , Neonatal Screening , Polymorphism, GeneticABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical application of the vacuum-sealing drainage (VSD) in the prevention of lymph leakage after inguinal lymphadenectomy.</p><p><b>METHODS</b>From September 2003 to September 2013, 60 cases who underwent inguinal lymph nodes dissection received VSD (n = 30), or traditional pressure dressing and drainage( control group, n = 30) after operation. The flap blood supply, healing process and incidence rate of lymph leakage were observed.</p><p><b>RESULTS</b>Twenty-eight cases in VSD group were effective. Eleven cases were cured, ten cases were effective, and nine cases were invalid in control group. The cure rate, effective rate and healing period were significantly different between the two groups (P < 0.01).</p><p><b>CONCLUSIONS</b>The incidence of lymph leakage after inguinal lymphadenectomy can markedly decrease with VSD application. VSD could be an ideal preventive method for post-operative lymph leakage.</p>
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Groin , General Surgery , Lymph Node Excision , Lymph Nodes , Negative-Pressure Wound Therapy , Postoperative Complications , Surgical FlapsABSTRACT
The mechanisms of exercise-induced fatigue have not been investigated using proteomic techniques, an approach that could improve our understanding and generate novel information regarding the effects of exercise. In this study, the proteom alterations of rat skeletal muscle were investigated during exercise-induced fatigue. The proteins were extracted from the skeletal muscle of SD rat thigh, and then analyzed by two-dimensional electrophoresis and PDQuest software. Compared to control samples, 10 significantly altered proteins were found in exercise samples, two of them were upregulated and eight of them were downregulated. These proteins were identified by MALDI TOF-MS. The two upregulated proteins were identified as MLC1 and myosin L2 (DTNB) regulatory light-chain precursors. The eight decreased proteins are Glyceraldehyde-3-phosphate Dehydrogenas (GAPDH); Beta enolase; Creatine kinase M chain (M-CK); ATP-AMP Transphosphorylase (AK1); myosin heavy chain (MHC); actin; Troponin I, fast-skeletal muscle (Troponin I fast-twitch isoform), fsTnI; Troponin T, fast-skeletal muscle isoforms (TnTF). In these proteins, four of the eight decreased proteins are related directly or indirectly to exercise induced fatigue. The other proteins represent diverse sets of proteins including enzymyes related to energy metabolism, skeletal muscle fabric protein and protein with unknown functions. They did not exhibit evident relationship with exercise-induced fatigue. Whereas the two identified increased proteins exhibit evident relationship with fatigue. These findings will help in understanding the mechanisms involved in exercise-induced fatigue.