ABSTRACT
Primary hyperoxaluria (PH) is a rare autosomal recessive hereditary disease, characterized by calcium oxalate kidney stone and nephrocalcinosis caused by defects in enzymes of liver glyoxylate metabolism. Up to now, treatment options for PH are limited. Although medication treatment and liver transplantation can slow down the progression and mitigate the symptoms, the evidence for them turned out to be weak. In recent years, breakthroughs in biotechnology provide novel promising directions for drug development. Small interfering RNA drugs, such as lumasiran and nedosiran, selectively reduce hepatic expression of glycolate oxidase and lactate dehydrogenase respectively, reducing hepatic oxalate production and urinary oxalate levels in PH patients. Gene-editing, such as CRISPR/Cas9, will be a potential treatment method of PH. This review encompasses recent developments in the gene therapy of PH.
ABSTRACT
Some kidney stones are caused by single gene mutations, and monogenic kidney stone diseases associated with purine metabolic disorder mainly including adenine phosphoribosyltransferase(APRT) deficiency, hypoxanthine-guanine phosphoribosyltransferase(HPRT)deficiency, hereditary xanthinuria(HX), and some diseases caused by gene mutations such as PRS1, SLC22A12, SLC2A9 and ABCG2. Such diseases can lead to abnormal metabolism of purine and uric acid, and then form 2, 8-dihydroxyadenine stones, uric acid stones or xanthine stones. This kind of diseases are rare, the genotype and phenotype of different types of monogenic diseases related to purine metabolism have their own characteristics and are not widely recognized. At present, the main treatment is medical therapy. Gene sequencing will make the diagnosis and find more disease-related genes or mutations. Gene editing, such as CRISPR/Cas9 technology, makes it possible to cure monogenic kidney stone diseases associated with purine metabolism disorder in the future.
ABSTRACT
Objective@#To investigate the morphology and structure of the perpendicular plate of ethmoid and measure its anatomical parameters among Chinese population. To discuss the safety range of harvesting perpendicular plate of ethmoid in rhinoplasty.@*Methods@#Sixty-four healthy Chinese were included in accordance with certain requirements and their paranasal sinus was examined using 64 slices computed tomography (CT). The three-dimensional (3D) structure of their perpendicular plate of ethmoid was reconstructed, and the area, length, height and thickness were measured by Mimics 17.0 software. Statistical analysis was completed by SPSS 22.0 software and was checked out by t-test.@*Results@#According to the result from 3D anatomical analysis, the length of the anterior border of perpendicular plate of ethmoid was (28.58±2.91) mm, the inferior border was (26.17±5.76) mm and the posterior border was (19.84±3.17) mm. The thickness of the anterior border three sections were (3.07±0.72) mm, (3.09±0.73) mm and (1.75±0.55) mm respectively. The thickness of the inferior border in three sections were (1.96±0.62) mm, (1.94±0.73) mm and (1.87±0.67) mm, respectively. The length of the middle and lower third of the perpendicular plate of ethmoid anterior border was (10.04±2.39) mm. As to the superior border, the length was (35.31±6.52) mm. The total area of the perpendicular plate of ethmoid was (1 057.85±184.38) mm2, the lower section area was (474.09±109.60) mm2, and the ratio of middle and lower third to the total area was 0.45±0.07.@*Conclusions@#The thickness of the lower 1/3 segment of the vertical plate of the ethmoid bone is thinner than that of the upper segment, and it is far away from the skull base, which is easily to harvest and meet the application in surgery.
ABSTRACT
Objective To explore the effect of cyclogest and femotroneinthreatened abortion treatment and summerize key points of nursing. Methods Forty-two cases of first trimester threatened abortion women were selected from department of gynecology and obstetrics, which were randomly divided into the control group (n=21) and experiment group (n=21)using random digit table. The control group was given femotrone 40mg intramuscular injection each day while the experiment group was given 90 mg of vaginal progesterone suppository (Cyclogest) each day. Compare the improvement of symptoms, the success rate of pregnancy, changes in serum human chorionic gonadotropin (HCG) and progesterone. Results The improvement of symptoms, curative effects and change of HCG of both groups were no significantly difference. But elevatorconcentration of serum progesterone in femotrone group was higher than that of the cyclogest groupwith statistically difference. Conclusions Although cyclogest cannot appear significantly in increasing serum progesterone levels, it has the same effect as femotrone. Recommendations and notes about the use and side effects of cyclogest and femotrone should be provided for education to alleviate concerns of patients.
ABSTRACT
Objective To observe and compare the variation of insulin resistance and pancreatic β-cell function in pregnant women with abnormal and normal glucose metabolism during the first,second,and third trimesters,and to explore the feasibility of early diagnosis of gestational diabetes mellitus(GDM).Methods This is a prospective study.507 pregnant women with regular antenatal care from February 2009 to March 2010 were included in the study.Based on the results of oral glucose tolerance test,the patients with GDM consisted of 58,86,and 66 subjects respectively in the first,second,and third trimesters.The control group included 72,164,and 66 subjects respectively in the first,second,and third trimesters.Homeostasis model assessment insulin resistance index( HOMA-IR),homeostasis model assessment β-cell function (HOMA-β),area under curve of glucose (AUCG),area under curve of insulin ( AUCI ),30-minute insulin increase to 30-minute glucose increase ( △I30/△G30 ),and insulin sensitivity index composite(ISIcomp) were calculated for the evaluation of insulin resistance and pancreatic β-cell function.Results ( 1 ) AUCG and AUCI in the GDM group were statistically higher than those in control group while △I30/△G30and ISlcomp in the GDM group were statistically lower than those in the control group during the first trimester(P＜0.05),but HOMA-IR showed no statistically significant difference between two groups.In the GDM groups HOMA-IR,AUCG,and AUCI were statistically higher,whereas △I30/△G30 and ISIcomp were statistically lower than those in the control groups during the second and third trimesters (P ＜ 0.05 ). HOMA-β showed no statistically significant differences between the GDM groups and control groups during 3 trimesters.( 2 ) During thefirst,second,and third trimesters,blood glucose reached its peak by 0.5 h in the oral glucose tolerance test,and insulin reached its peak by 0.5-1 h in the control groups; while in the GDM groups the respective figures were 1 h and 2 h.Conclusions The insulin resistance in GDM patients diagnosed during the first,second,and third trimesters was higher than in pregnant women with normal glucose metabolism,and the peaks of blood glucose and insulin reached in oral glucose tolerance test were respectively delayed.The impaired pancreatic β-cell insulin secretion in GDM patients was present from early pregnancy.Thus for high-risk groups,oral glucose tolerance test during early pregnancy will be helpful for screening abnormal glucose metabolism.
ABSTRACT
Clinical pharmacological study of cefuroxime was carried out in 8 normal volunteers. The drug obeyed two-compartment model kinetics in serum. The mean peak serum concentrations were 32.14, 89.06 and 63.11 (.is/ml respectively after IM, IV injection and IV infusion of 0.75g cefuroxime. Serum concentrations after IV administration dec re- ased rapidly, the elimination half lives ranged from 1.05-1.48 hours Absorption after IM injection was rapid and complete, the bioava-ilability being 98.89%,The apparent volume of distribution. ranged from 0.34 L/kg to 0.37 L/kg after IM and IV administration which showed that cefuroxime distributed mainly in extracellular fluid.The mean urinary recovery of cefuroxime was more than 90% within 24 hours after the administration of the drug.Based on its pha.rmacokinetic characteristics and antimicrobial activity, a therapeutic regimen is suggested for use in the treatment of various infections.