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OBJECTIVE@#To explore the genetic basis for a juvenile with maturity-onset diabetes of the young type 12(MODY12).@*METHODS@#High-throughput sequencing was carried out to screen for the variants. Candidate variant was verified by Sanger sequencing. Pathogenity of the variant was predicted by searching the genetic databases and analysis by using bioinformatic software.@*RESULTS@#Genetic testing indicated that the patient and his mother have both carried a heterozygous c.3976G>A variant (p.Glu1326Lys) in exon 32 of the ABCC8 gene. Prediction of the protein structure suggested the variant to be deleterious. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be uncertain significance.@*CONCLUSION@#Whether the c.3976G>A variant of the ABCC8 gene is the cause of the disease in this patient or not depends on the functional studies and more case data. Above finding has enriched the spectrum of ABCC8 gene variants.
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Humanos , Diabetes Mellitus Tipo 2/genética , Pruebas Genéticas , Genómica , Secuenciación de Nucleótidos de Alto Rendimiento , MutaciónRESUMEN
Objective To investigate the causes, prevention and treatment of recurrent laryngeal nerve (RLN) injury during operation in patients with thyroid cancer. Methods Clinical data of 192 patients undergone thyroidectomy operation were reviewed. Results RLN was exposed during operation in 192 patients. There were 3 cases of RLN injury, then RLN anastomosis was happened immediately during operation. It was significantiy improved in pronunciation after operation. 2 ～ 3 d after surgery, transitory hoarseness was observed in 3 patients. Unilateral RLN resection performed in 1 case with cancer involving RLN. Conclusions There were some causes of RLN injury. Exposure of RLN selectively,delicate operation and thyroid gland surgery specialist were the key point for prevention of the injury of RLN. Once RLN injury occured ,repairing should be performed as soon as possible.
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Objective To investigate the expression of suppressor gene Runt-related transcription factor 3(Runx3)in gastric carcinoma and its relationship with clinicopathologic parameters.Methods RT-PCR and Western blot were used to determine the mRNA expression and protein expression of Runx3 gene in primary tumor and corresponding normal tissues respectively in 52 patients with gastric carcinoma.The relationship between Runx3 expression and clinicopathologic parameters was analyzed.Results RT-PCR and Western blot analysis in 52 patients with gastric carcinoma showed down-regulation of Runx3 mRNA and Runx3 protein in 59.6%(31/52)and 48.1%(25/52)of the primary tumors tested,and in none of the normal tissues(P