Femoral attachment of the anterior cruciate ligament

Endoscopic anterior cruciate ligament (ACL) reconstruction is one of the most popular orthopaedic procedures. Correct tunnel positioning is a prerequisite to success. Current surgical techniques are unable to duplicate the complex anatomy and function of the native ACL. Surgery mainly aims at restoring anteroposterior laxity. The ACL is not isometric and only a few fibers are nearly isometric over the full range of motion. However, a nearly isometric behaviour of the ACL graft is desirable. Isometry is mainly influenced by femoral attachment; thus the femoral tunnel position has a greater effect than the tibial on graft length changes. The purpose of this article is to describe the anatomy of the femoral ACL insertion and to discuss the surgical techniques used to replicate it.     

Evolutionary aspects of “chloroplast-like” trnN and trnH expression in higher-plant mitochondria

Two identical “chloroplast-like” tRNA^Asn genes, trnN1 and trnN2, have been identified in the potato (Solanum tuberosum) mitochondrial genome. The flanking sequences of trnN1 are unrelated to the corresponding authentic potato chloroplast regions, whilst those of trnN2 are very similar to the chloroplast sequences. The trnN1 copy is present in the mitochondrial genome of various plants whereas the second copy, trnN2, is absent from all the other plant genomes studied so far. Interestingly, both trnN copies are expressed in potato mitochondria. Sequences flanking the chloroplast-like tRNA^His gene (trnH), present as a single copy in the potato mitochondrial DNA, are unrelated to the corresponding chloroplast sequences, whereas chloroplast-derived sequences have been maintained in the vicinity of the maize chloroplast-like mitochondrial trnH gene. However, both the potato and the maize trnH are expressed in mitochondria. Received: 10 April / 1 August 1997     

带塑料插入件栓式附着体义齿修复后满意度的调查

目的 通过问卷调查表对患者戴用附着体义齿后的主观感受进行研究.方法 选择上下牙列缺损患者42例,共制作带塑料插入件栓式附着体义齿47例,于戴牙后1个月,患者基本适应戴用义齿,通过问卷调查,了解患者戴用义齿后的适应情况、对义齿的满意程度及咀嚼功能的变化等.结果 患者对带塑料插入件栓式附着体义齿和传统可摘局部义齿两种修复方式比较,在总的满意度、美观、舒适、咀嚼、语言、适应期、食物结构改变等方面,前者明显优于后者,差异有统计学意义.结论 带塑料插入件栓式附着体义齿在美观及功能上不仅能满足患者的要求,而且远优于传统可摘局部义齿.     

Femoral and iliac vein stenoses after prolonged femoral vein catheter insertion.

BACKGROUND/AIMS: Catheterization of the femoral vein is a safe and recommended method of temporary access for haemodialysis. In some patients, however, because of the lack of other possibilities, it is necessary to maintain long-term femoral cannulation. The aim of the study was to evaluate the frequency of stenosis after prolonged femoral cannulation. METHODS: The 24 patients incorporated in the study were divided into two groups. Group 1 consisted of 10 end-stage kidney failure patients (four females and six males, aged 32-75 years, average 55.6+/-13.6 years) in whom femoral catheters were maintained for less than 2 weeks (5-14 days, average 9.3+/-3.6 days). Group 2 included 14 chronic haemodialysis patients (six females and eight males aged 23-65 years, average 49.5+/-13.27 years). The time of catheter maintenance ranged from 2 to 16 weeks (average 6.4+/-4.2 weeks). Femoral and iliac vein status was evaluated using magnetic resonance imaging. RESULTS: A feature of venous stenosis of both the femoral and iliac veins was disclosed in four patients in whom femoral cannulation lasted more than 4 weeks. There were no stenoses in group 1. CONCLUSION: Long-term femoral cannulation for more than 4 weeks may be associated with a significant risk of stenosis in the femoral and/or external iliac veins.     

Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage

Although gross insertions (>20 bp) comprise <1% of disease-causing mutations, they nevertheless represent an important category of pathological lesion. In an attempt to study these insertions in a systematic way, 158 gross insertions ranging in size between 21 bp and approximately 10 kb were identified using the Human Gene Mutation Database (www.hgmd.org). A careful meta-analytical study revealed extensive diversity in terms of the nature of the inserted DNA sequence and has provided new insights into the underlying mutational mechanisms. Some 70% of gross insertions were found to represent sequence duplications of different types (tandem, partial tandem, or complex). Although most of the tandem duplications were explicable by simple replication slippage, the three complex duplications appear to result from multiple slippage events. Some 11% of gross insertions were attributable to nonpolyglutamine repeat expansions (including octapeptide repeat expansions in the prion protein gene [PRNP] and polyalanine tract expansions) and evidence is presented to support the contention that these mutations are also caused by replication slippage rather than by unequal crossing over. Some 17% of gross insertions, all >or=276 bp in length, were found to be due to LINE-1 (L1) retrotransposition involving different types of element (L1 trans-driven Alu, L1 direct, and L1 trans-driven SVA). A second example of pathological mitochondrial-nuclear sequence transfer was identified in the USH1C gene but appears to arise via a novel mechanism, trans-replication slippage. Finally, evidence for another novel mechanism of human genetic disease, involving the possible capture of DNA oligonucleotides, is presented in the context of a 26-bp insertion into the ERCC6 gene.     

Cardiovascular risk factors in people with different genotypes in the insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme (ACE)

The deletion (D) allele of an insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme (ACE) has been reported to be an independent risk factor for myocardial infarction (MI), particularly in people lacking traditional risk factors. Furthermore, a borderline association between Lp(a) lipoprotein level and the I/D polymorphism at the ACE locus was reported in one study. We have searched for possible "level gene" or "variability gene" effects of ACE genes on Lp(a) lipoprotein, total cholesterol (TC), high density lipoprotein (HDL) cholesterol (HDLC), low density lipoprotein (LDL) cholesterol (LDLC), triglycerides (TG), apolipoprotein B (apoB), apolipoprotein A-I (apoA-I), and body mass index (BMI). None of these variables differed significantly between genotypes in the I/D polymorphism in any of three population samples. A single population sample created by combining the three series, exhibited an insignificant trend towards individuals carrying the D-allele having a higher level of Lp(a) lipoprotein than those lacking it, and DD homozygotes had a significantly higher Lp(a) lipoprotein level than the combined group of ID/II individuals (p = 0.03). These results may indicate that the D-allele of the I/D polymorphism at the ACE locus could influence the level of Lp(a) lipoprotein.     

Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients

The presence of Y chromosome sequences in Turner syndrome (TS) patients may predispose them to gonadoblastoma formation with an estimated risk of 15–25%. The aim of this study was to determine the presence and the incidence of cryptic Y chromosome material in the genome of TS patients. The methodology involved a combination of polymerase chain reaction (PCR) and nested PCR followed by Southern blot analysis of three genes—the sex determining region Y (SRY), testis specific protein Y encoded (TSPY) and RNA binding motif protein (RBM) (previously designated as YRRM) and nine additional STSs spanning all seven intervals of the Y chromosome. The methodology has a high sensitivity as it detects one 46, XY cell among 10⁵ 46, XX cells. Reliability was ensured by taking several precautions to avoid false positive results. We report the results of screening 50 TS patients and the identification of cryptic Y chromosome material in 12 (24%) of them. Karyotypes were divided in four groups: 5 (23.8%) patients out of the 21 TS patients which have the 45, X karyotype (group A) also have cryptic Y sequences; none (0%) of the 7 patients who have karyotypes with anomalies on one of the X chromosomes have Y mosaicism (group B); 1 (6.3%) of the 16 patients with a mosaic karyotype have Y material (group C); and 6 (100%) out of 6 patients with a supernumerary marker chromosome (SMC) have Y chromosome sequences (group D). Nine of the 12 patients positive for cryptic Y material were recalled for a repeat study. Following new DNA extraction, molecular analysis was repeated and, in conjunction with fluorescent in situ hybridization (FISH) analysis using the Y centromeric specific probe Yc-2, confirmed the initial positive DNA findings. This study used a reliable and sensitive methodology to identify the presence of Y chromosome material in TS patients thus providing not only a better estimate of a patient's risk in developing either gonadoblastoma or another form of gonadal tumor but also the overall incidence of cryptic Y mosaicism.     

Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1→q24 in different offspring

The use of elongated prophase and prometaphase chromosome preparations has allowed detection of an insertion of a small segment of 3q into 11q in a kindred with 4 balanced carriers and 8 unbalanced offspring. Those with partial 3q deletion have a true multiple congenital anomalies/mental retardation (MCA/MR) syndrome with an appearance suggestive of the Schwartz-Jampel syndrome.     

Experience sharing of conservative treatment after a 90-year-old male replacing the suprapubic bladder catheter enters the small intestine: A rare case report

IntroductionThe treatment of intestinal perforation caused by the SBC enters the small intestine in elderly patients is a challenge for urologists. The report is to share our experience of conservative treatment after a 90-year-old male with the suprapubic bladder catheter enters the small intestine.Presentation of caseBecause of the device was obstructed, a 90-year-old male went to our hospital with his family and requested to replace the SBC. When the fistula tube was replaced, it entered the intestine through the intestinal injury site instead of entering the bladder. During the hospitalization, the patient was given supportive treatments and the SBC was dynamically monitored daily and it was intermittently withdrawn out during this period. After the drainage volume was less than 10 mL for three consecutive days and the intestinal fistula was healing gradually, the catheter was taken out.DiscussionAccording to our experience, the common complications in the process include failure to pull out the SBC, abnormal position of the SBC, and poor drainage of the SBC. However, the drainage tube placing into the small intestine through the original hole of the suprapubic bladder fistula during the replacement process is quite rare. When elderly patients have traumatic small bowel perforation, the diagnosis and treatment of intestinal perforation in elderly patients was particularly important.ConclusionThe conservative treatment of intestinal perforation is suitable for elderly patients who are unsuitable or unwilling to undergo a surgical operation. Of course, it should be in accordance with the patient's condition to make the right choice of treatment.