ABSTRACT
Objective@#Microtia is a relatively common birth defect, and its etiology is still unclear. In this paper, Phenolyzer, a kind of phenotype-based gene analyzer, was used to prioritize candidate genes involved in microtia.@*Methods@#The search term " Microtia" was entered in the Phenolyzer interface. Through the steps of disease matching, gene query, gene scoring, seed gene expansion, the genetic information results of microtia were finally generated. This article traced 10 candidate genes in detail.@*Results@#There were 13485 genes associated with microtia or related syndromes, of which 130 were seed genes. Each gene had a corresponding score, and the higher the score, the greater the correlation with the microtia. Among them, the top 10 genes included HOXA2, CHD7, CDT1, CDC6, ORC1, ORC4, ORC6, SMAD4, GLI3 and MED12.@*Conclusions@#Phenolyzer provides a detailed summary of candidate genes for microtia, providing accurate research directions for screening high-throughput sequencing results and subsequent studies.
ABSTRACT
OBJECTIVE To analyze and compare the clinical efficacy of subtotal-parathyroidectomy and totalparathyroidectomy with forearm autotransplantation in the treatment of hyperparathyroidism secondary to uremia. METHODS The clinical data of 31 cases of secondary hyperparathyroidism(SHPT) who were operated in Dalian Friendship Hospital from January 2012 to June 2018 were retrospectively analyzed. The cases were divided into two groups. Subtotal parathyroidectomy was performed in group one(20 cases) and total parathyroidectomy with forearm autotransplantation were performed in group two(11 cases). Preoperative, postoperative one week, 1 month, 3 months, 6 months of patients with the levels of blood calcium, blood phosphorus and blood iPTH, clinical symptom improvement degree and other data were analyzed. RESULTS Postoperative, the levels of blood calcium, blood phosphorus and blood iPTH all decreased significantly compared with that before operation, and the difference was statistically significant(P ＜0.05). There was no significant difference in preoperative and postoperative levels of blood calcium, blood phosphorus and blood iPTH at 6 months after surgery between the two groups(P ＞0.05). Postoperative bone pain, skin itching and restless leg syndrome were significantly reduced in both groups. There was no significant difference in symptom relief between the two groups(P ＞0.05). CONCLUSION Both of the surgical methods can effectively manage the hyperparathyroidism secondary to uremia, they have high surgical safety, there was no significant difference in the effects of serum calcium and phosphorus between the two groups, and the parathyroid hormone decreased more significantly in the parathyroid total excision and forearm autologous transplantation group in the short term. Both of them have the possibility of recurrence. The second operation in total parathyroidectomy and forearm autotransplantation group is simple and easy, which has certain advantages.
ABSTRACT
1000 ml per day had to be cured by operation.