软组织扩张中扩张囊内外的细菌学分析

目的研究软组织扩张术患者扩张囊内、外的细菌数量及种类，为临床上防治扩张术感染提供依据。方法连续采集33例扩张术患者的51枚扩张囊内、外的液体标本，进行常规细菌培养和药敏试验，并将其结果进行统计学处理，采用Y0检验和Kappa检验。结果扩张囊内、外的细菌检出率分别为3．92％（2枚）、17．65％（9枚），囊外阳性率显著高于囊内（P〈0．05），囊内、外细菌的检出结果一致性较差（Kappa〈0．4）。细菌种类为金黄色葡萄球菌和凝固酶阴性葡萄球菌，对庆大霉素、去甲万古霉素、环丙沙星均敏感。33例患者（51枚）中，有10例患者（10枚）检出细菌，仅有1例患者（1枚）出现临床感染症状，致病菌为金黄色葡萄球菌。结论严格消毒后进行穿刺注水导致感染的几率很低，而感染后的细菌培养和药敏试验是治疗的关键。     

输尿管镜气压弹道碎石治疗输尿管结石110例

目的总结输尿管镜气压弹道碎石治疗输尿管结石的临床效果。方法采用F8/9.8 Wolf硬性输尿管镜、JUN—AIR气压弹道碎石机治疗110例输尿管结石。结果输尿管镜直视下一次碎石成功105例，成功率95．5％（105／110），1～6周内结石全部排净。2例因置镜失败改开放手术，3例输尿管上段结石上移至肾脏行ESWL2例，口服排石药物治疗1例。术后泌尿系感染5例，轻度肉眼血尿1～3d。结论输尿管镜气压弹道碎石是治疗输尿管中、下段结石的有效方法之一，具有碎石率高、安全、并发症少、操作简单的优点。     

对耳轮过度前突畸形的整复

对耳轮过度前突为对耳轮的角度过锐，致使耳轮的位置相应后移，表现为与招风耳完全相反的畸形。畸形虽不十分明显，但影响美观。自１９９２年４月开始应用患侧耳廓软骨和耳后皮瓣对５例患者８只外耳进行治疗得到满意效果。认为文中所述方法是矫正对耳轮过度前突畸形的良好方法。     

乙酰胆碱受体抗体量与眼型重症肌无力病情关系的实验观察

目的　观察血清乙酰胆碱受体抗体 (Ach Rab)含量与眼型重症肌无力患者病情程度和发展为全身型重症肌无力的关系。方法　 2 0例眼型重症肌无力患者按受累程度分为轻、中、重三组 ,采用固相酶免疫吸附法测定血清 Ach Rab含量 (P/ N值 )。结果　对照组和病情轻、中、重三组血清 P/ N值分别为 :0 .6 7± 0 .45、0 .78± 0 .30、1.16± 0 .18和 1.5 1± 0 .13。轻度组与对照组比较无显著差异 (P >0 .0 5 ) ,中度组与轻度组比较差异显著 (P <0 .0 5 ) ,重度组与中度组比较有非常显著差异 (P <0 .0 1)。3例 P/ N值明显高患者 (中度组 1例、重度组 2例 ) 2年后发展成全身型。结论　 P/ N值可反映患者病情程度和提供眼型重症肌无力发展为全身型重症肌无力的预兆信息。     

Differential Effect of Diarrhea on FK506 Versus Cyclosporine A Trough Levels and Resultant Prevention of Allograft Rejection in Renal Transplant Recipients

Diarrhea is the most frequently reported adverse event in patients treated with mycophenolate mofetil. Twenty-six renal transplant patients on a mycophenolate mofetil-based immunosuppressive regime with persistent afebrile diarrhea were examined. Diarrhea caused a significant rise in FK-506 trough levels despite intake of stable doses, necessitating FK-506 dose reductions of 30% to obtain pre-diarrhea trough levels. In contrast, trough levels of cyclosporine A remained stable without dose adjustments. This suggests that absorption and/or metabolism is differentially altered for FK506 compared with cyclosporine A in patients with diarrhea. In nine patients mycophenolate mofetil was reduced or stopped because of persistent diarrhea without identifiable cause. This resulted in end-stage renal disease because of chronic rejection in two patients, and in acute rejection in two patients, all taking FK506 and steroids. Therefore, dose adjustments of FK506 in patients with diarrhea must be carefully monitored, especially when doses of mycophenolate mofetil are also reduced.     

The Effect of Acupuncture on Bone Mineral Density in Postmenopausal Women

According to the TCM theory that the kidney is in charge of the bone, the authors carried out a study on the effect of acupuncture on bone mineral density in 40 postmenopausal women with osteoporosis treated by the method of reinforcing the kidney to strengthen the bone, with satisfactory therapeutic results reported as follows.     

EFFECTS OF ANGIOTENSINS II AND III ON GLOMERULOTUBULAR BALANCE IN RATS

1. The role of angiotensin as a modulator of proximal glomerulotubular (GT) balance was investigated in anaesthetized rats by examining the relationship between glomerular filtration rate (GFR) and absolute proximal reabsorption (APR) during removal of endogenous angiotensin II (AII) and III (AIII) with enalaprilat (CEI) and then during their subsequent replacement by intravenous infusions. 2. Enalaprilat lowered mean arterial blood pressure (MABP) and increased renal blood flow (RBF), GFR, urine flow rate and sodium excretion. Filtration fraction (FF) was not altered. Absolute proximal reabsorption, derived from fractional lithium clearance, increased by only 48% of the change expected for 'perfect' GT balance. 3. Angiotensin II replacement corrected MABP, GFR and plasma renin level, but reduced RBF and increased FF; APR was decreased and GT balance was restored. Urine flow and sodium excretion remained above control values with AII. 4. Replacement with AIII did not correct the hypotension but completely reversed the renal and renin responses to enalaprilat and restored GT balance without affecting FF. 5. It was concluded that the relation between proximal reabsorption and GFR is considerably modified by the intrarenal angiotensin concentration. The findings are best explained by a direct stimulation of proximal tubular sodium transport by angiotensin at the concentrations existing in anaesthetized rats.     

Aneuploidy induction by water extract from Tripterygium hypoglaucum (Level) Hutch in mouse bone marrow cells

Hie aneuploidy-inducing activity of a Chinese medicinal herb,Tripterygium hypoglaucum (level) Hutch (THH), was investigatedby means of three cytogenetic end-points, i.e. C-mitotic (CM)effects, micronuclei (MN) and parallel chromosome structuralaberration (CA) analyses in vivo. The CA analysis was expectedto reflect the origins of MN induced by clastogens or aneugens.The experiments were performed on mouse bone marrow cells. Theanimals were treated with the crude water extracts of THH (singlei.p. injection) in the dose range 120–686 mg/kg. Colchicine(COL) was taken as a positive control for its known aneuploidy-inducingeffects. THH showed similar genotoxic effects to COL in CM,MN and CA analyses: positive CM effects were observed accompaniedwith increases of mitotic index and frequencies of CM cellsas well as decreased frequencies of anaphase in all of the THH-treatedgroups. The compound showed a positive MN response in bone marrowpolychromatic erythrocytes but was negative in CA analyses.No sex differences were found in any treated group. The preliminaryresults suggested that THH is an aneuploidy inducer in mousebone marrow cells under the present experimental conditions.     

Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability

X-linked spinal and bulbar muscular atrophy (SBMA) is caused by a CAG repeat expansion in the first exon of the androgen receptor (AR) gene. Disease-associated alleles (37-66 CAGs) change in length when transmitted from parents to offspring, with a significantly greater tendency to shift size when inherited paternally. As transgenic mice carrying human AR cDNAs with 45 and 66 CAG repeats do not display repeat instability, we attempted to model trinucleotide repeat instability by generating transgenic mice with yeast artificial chromosomes (YACs) carrying AR CAG repeat expansions in their genomic context. Studies of independent lines of AR YAC transgenic mice with CAG 45 alleles reveal intergenerational instability at an overall rate of approximately 10%. We also find that the 45 CAG repeat tracts are significantly more unstable with maternal transmission and as the transmitting mother ages. Of all the CAG/CTG repeat transgenic mice produced to date the AR YAC CAG 45 mice are unstable with the smallest trinucleotide repeat mutations, suggesting that the length threshold for repeat instability in the mouse may be lowered by including the appropriate flanking human DNA sequences. By sequence-tagged site content analysis and long range mapping we determined that one unstable transgenic line has integrated an approximately 70 kb segment of the AR locus due to fragmentation of the AR YAC. Identification of the cis - acting elements that permit CAG tract instability and the trans -acting factors that modulate repeat instability in the AR YAC CAG 45 mice may provide insights into the molecular basis of trinucleotide repeat instability in humans.      

Prenatal presentation and diagnosis of Baraitser‐Winter syndrome using exome sequencing

Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mutations in the genes ACTB or ACTG1. The classic presentation of BWCFF is discerned by the combination of unique craniofacial characteristics including ocular coloboma, intellectual disability, and hypertelorism. Congenital contractures and organ malformations are often present, including structural defects in the brain, heart, renal, and musculoskeletal system. However, there is limited documentation regarding its prenatal presentation that may encourage healthcare providers to be aware of this disorder when presented throughout pregnancy. Herein we describe a case of a pregnancy with large cystic hygroma and omphalocele. Whole exome sequencing (WES) was performed and a de novo, heterozygous, likely pathogenic mutation in ACTB was detected, c.1004G>A (p.Arg335His), conferring a diagnosis of BWCFF.