Comparison of two different anesthesia methods for the procedure for prolapse and hemorrhoids in elderly patients with anorectal diseases / 中华老年医学杂志

Objective@#To compare the anesthetic effects of subarachnoid anesthesia(SA)and epidural anesthesia(EA)for the procedure for prolapse and hemorrhoids(PPH)in elderly patients with benign anorectal diseases.@*Methods@#A retrospective analysis was conducted in 60 patients with benign anorectal diseases admitted to Peking University Third Hospital from March to August 2018 and undergoing PPH.According to anesthesia methods, patients were divided into the SA group and the EA group (n=30 each). The level of sensory block was tested by acupuncture, and the degree of motor block was assessed by revised Bromage score.The anesthesia effect, operation time, blood loss, adverse events and hospitalization time were compared between the two groups.@*Results@#The highest level of sensory block was similar between the two groups without significant difference(P>0.05). The median onset time of sensory block was longer in the EA group [270.0 s(interquartile range, 66.3 s)] than in the SA group [25.5 s(interquartile range, 14.3 s)]. The revised Bromage score was lower in the EA group than in the SA group [1.0(interquartile range, 1.0)vs.2.0 (interquartile range, 1.0), Z=6.657, -1.685, both P=0.000]. The risks of hypotension, nausea and vomiting, and urinary retention were lower in the EA group than in the SA group (χ2=6.405, 4.286 and 4.403, P=0.011, 0.038 and 0.044). There were no significant differences in anesthetic effect, operation time, blood loss and hospitalization time between the two groups(all P>0.05).@*Conclusions@#EA can provide a perfect anesthesia and analgesic effect for elderly patients receiving PPH, with the advantages of rapid recovery of limb movement and low adverse events.As a substitute for SA, EA is a suitable anesthesia method for promoting the enhanced recovery after surgery(ERAS)in patients with benign anorectal diseases.

Comparison of two different anesthesia methods for the procedure for prolapse and hemorrhoids in elderly patients with anorectal diseases / 中华老年医学杂志

Objective To compare the anesthetic effects of subarachnoid anesthesia(SA)and epidural anesthesia(EA)for the procedure for prolapse and hemorrhoids(PPH)in elderly patients with benign anorectal diseases.Methods A retrospective analysis was conducted in 60 patients with benign anorectal diseases admitted to Peking University Third Hospital from March to August 2018 and undergoing PPH.According to anesthesia methods,patients were divided into the SA group and the EA group (n=30 each).The level of sensory block was tested by acupuncture,and the degree of motor block was assessed by revised Bromage score.The anesthesia effect,operation time,blood loss,adverse events and hospitalization time were compared between the two groups.Results The highest level of sensory block was similar between the two groups without significant difference(P ＞0.05).The median onset time of sensory block was longer in the EA group [270.0 s(interquartile range,66.3 s)] than in the SA group [25.5 s(interquartile range,14.3 s)].The revised Bromage score was lower in the EA group than in the SA group [1.0(interquartile range,1.0)vs.2.0 (interquartile range,1.0),Z =6.657,-1.685,both P =0.000].The risks of hypotension,nausea and vomiting,and urinary retention were lower in the EA group than in the SA group (x2 =6.405,4.286 and 4.403,P=0.011,0.038 and 0.044).There were no significant differences in anesthetic effect,operation time,blood loss and hospitalization time between the two groups (all P ＞ 0.05).Conclusions EA can provide a perfect anesthesia and analgesic effect for elderly patients receiving PPH,with the advantages of rapid recovery of limb movement and low adverse events.As a substitute for SA,EA is a suitable anesthesia method for promoting the enhanced recovery after surgery(ERAS) in patients with benign anorectal diseases.

Progress in molecular genetics of hyperphenylalanemia / 国际儿科学杂志

Hyperphenylalaninemia is a common group of inherited metabolic diseases.It is characterized by the increased concentration of plasma phenylalanine.The metabolism of phenylalanine requires phenylalanine hydroxylase and coenzyme tetrahydrobiopterin.These enzymes cannot function normally if there is any mutation in their encoding genes.Children suffering from hyperphenylalaninemia without promptly treatment may present mental development delay and other serious nervous system sequelae.With the technical improvement of molecular genetics,there have been many progresses in the study of genetic diagnosis,genotype-phenotype correlation and gene therapy of hyperphenylalaninemia.This article reviews the history and classification of hyperphenylalaninemia,the characteristics of gene mutation,the methods of genetic diagnosis,the genotype-phenotype correlation,and the progress of new therapy.

Male pseudohermaphroditism and gene mutation analysis:one case report / 中华内分泌代谢杂志

[Summary] The clinical and genetic characteristics of a patient with male pseudohermaphroditism, being considered as an isolated 17, 20-lyase deficiency case, were analyzed. The social gender of the patient aged 30-year-old was female. The patient presented with 46, XY karyotype, unclosed epiphysis, after perineal block resection, hypergonadotropic hypogonadism, while the production of mineralocorticoids and glucocorticoids hormone was intact. A503V heterozygous mutation in exon 13 and a deletion in intron 11 of POR gene were detected. The gene mutations may lead to the occurrence of the isolated 17,20-lyase deficiency.

Research progress in the third-generation genomic editing technology - CRISPR/Cas9 / 中华医学遗传学杂志

CRISPR/Cas9 technology originated from type II CRISPR/Cas system, which is widely found in bacteria and equips them with acquired immunity against viruses and plasmids. CRISPR-associated protein Cas9 is a RNA-guided endonuclease, which can efficiently introduce double-strand breaks at specific sites and activate homologous recombination and/or non-homologous end joining mechanism for the repair of impaired DNA. Features such as easy-to-use, cost-effectiveness, multiple targeting ability have made it the third-generation genomic engineering tool following ZFNs and TALENs. Here the history of discovery and molecular mechanism of the CRISPR/Cas9 technology are reviewed. The rapid advance in its various applications, especially for the treatment of human genetic disorders, as well as some concomitant problems are discussed.

Mutation analysis of 35 Wilson's disease pedigrees / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the features of genetic mutations underlying Wilson's disease and provide prenatal and presymptomatic diagnosis.</p><p><b>METHODS</b>For 35 pedigrees affected with the disease, the exons and exon-intron boundaries of the ATP7B gene were amplified with polymerase chain reaction and subjected to Sanger sequencing. After the genotypes of parents of the probands were determined, prenatal diagnosis were performed through chorionic villus sampling.</p><p><b>RESULTS</b>The overall rate for mutation detection was 92.9%. A total of 24 distinct mutations were detected, which included 7 novel mutations, i.e., c.3871G>A(p.A1291T), c.2593_2594insGTCA, c.2790_2792delCAT, c.3661_3663delGGG, c.3700delG, c.4094_4097delCTGT, and IVS6+1G>A. Three mutations, including R778L (c.2333G>T)(45.7%), A874V (c.2621C>T)(7.1%) and P992L (c.2975C>T)(7.1%), were relatively common. Two presymptomatic patients were detected through familial screening, for whom treatment was initiated. Prenatal genetic diagnosis has verified three healthy fetuses and one carrier.</p><p><b>CONCLUSION</b>In this study the most popular mutation ofATP7B gene is R778L and 7 novel mutations have been identified in this gene. For pedigrees of Wilson's disease, genetic counseling in addition with prenatal and presymptomatic diagnosis should be provided through Sanger sequencing and haplotype analysis.</p>

Rocuronium anesthesia induced anaphylactic shock:a case report / 北京大学学报(医学版)

SUMMARY Anaphylaxis is an acute and fatal systemic allergic reaction to an allergen , and it could be an unpre-dictable and life-threatening cause during anesthesia .The main purpose of this paper is to report a case of anaphy-lactic shock during the anesthesia induction and to review the prophylaxis and treatment of anaphylactic reactions and anaphylactoid reactions during the anesthesia period .A 63-year-old man, with a mass on his adrenal , was scheduled to a laparoscopic adrenal tumor excision .During the anesthesia induction period , after administrated sul-fentanil, propofol and rocuronium , the blood pressure was decreased and the heart rate was increased .Then, the patient had rash on his whole body and developed an anaphylactic shock .After being treated with the anti-allergic agents and norepinephrine , the rash disappeared and the vital sign become stable .The patient felt nothing uncom-fortable during the two weeks ’ follow-up.Anaphylactic reactions and anaphylactoid reactions are not rare during the anesthesia period .The most common inducements are muscle relaxant , latex and antibiotics .Anaphylactic reac-tions in the perioperative period are often serious and potentially life-threatening conditions , involving multiple or-gan systems in which the clinical manifestations are the consequence of the release of preformed mediators from mast cells and basophils .Before anesthesia , we should acquire the allergic history .During the anesthesia period , the vi-tal sign and the skin should be observed carefully .