Searching for candidate genes for male infertility

Aim: We describe an approach to search for candidate genes for male infertility using the two human genome databases: the public University of California at Santa Cruz (UCSC) and private Celera databases which list known and predicted gene sequences and provide related information such as gene function, tissue expression,known mutations and single nucleotide polymorphisms (SNPs). Methods and Results: To demonstrate this in silico research, the following male infertility candidate genes were selected: (1) human BOULE, mutations of which may lead to germ cell arrest at the primary spermatocyte stage, (2) mutations of casein kinase 2 alpha genes which may cause globozoospermia, (3) DMR-N9 which is possibly involved in the spermatogenic defect of myotonic dystrophy and (4) several testes expressed genes at or near the breakpoints of a balanced translocation associated with hypospermatogenesis. We indicate how information derived from the human genome databases can be used to confirm these candidate genes may be pathogenic by studying RNA expression in tissue arrays using in situ hybridization and gene sequencing. Conclusion: The paper explains the new approach to discovering genetic causes of male infertility using information about the human genome. ( Asian J Andro1 2003 Jun; 5:137-147 )     

Challenges for surveillance for injury prevention

Injury surveillance has, and will continue to have, a critical role to play in reducing injury. If injury surveillance is going to realise its full potential in reducing injury, however, there are a number of challenges we need to address. These include: (1) agreeing on what is an injury, (2) focusing on important injuries, (3) improving surveillance of important injury events, and (4) improving surveillance of risk and protective factors.     

The Combitube for failed intubation--instructions for use

The Combitube is easy to use, but it might be years between occasions for use, and most likely the situation is stressful. Then, normal routines might be forgotten. We illustrate that the Combitube instructions would be improved by including a recommendation of cuff pressure monitoring.     

神经调节治疗神经源性排便功能障碍

目的 探讨神经调节技术治疗脊髓损伤后神经源性排便障碍的临床疗效.方法 2006年1月至2008年4月,我们应用神经调节技术治疗脊髓损伤后便秘9例,其中应用S3骶神经调节治疗1例,阴茎或阴蒂背神经调节治疗8例,通过Wexner便秘评分评价疗效.结果 1例患者接受骶神经调节治疗后,便秘症状明显改善,Wexner便秘评分从术前平均22分降低到术后平均9分.4例患者接受阴茎或阴蒂背神经调节治疗后有效,调节前Weber便秘评分平均19分,接受12周的阴茎或阴蒂背神经调节后Weber评分降低到平均11分.随访期问患者便秘症状及生活质量持续改善.结论 神经调节技术可以改善部分神经源性排便障碍患者的便秘症状,但目前尚无有效指标能够预测神经调节治疗神经源性排便障碍的效果,此项技术仍需要高质量的大样本随机对照研究来确证其治疗神经源性排便障碍的有效性.     

Indications for peritoneo-jugular shunt for ascites

In the past, refractory ascites was considered to be the only indication for insertion of an ascites valve with a peritoneo-jugular shunt. Such patients required a prolonged hospital stay prior to surgery and often succumbed to acute renal failure. In the present study, every patient entering with massive ascites was placed on a low-salt diet for 2 weeks. Eleven patients did not respond in a 2-week period and were placed on a regimen of continued medical therapy starting with aldactone. Although most of these patients lost weight, onehalf of them died within 6 months. Only 1 patient in the entire group survived more than a year.Sodium clearance is a simple measurement which differentiates hepatorenal syndrome from acute tubular necrosis. The absence of natriuresis on diuretic therapy is an indication that surgery is required. Sodium and water retention are no longer problems in postshunt patients.In the absence of contraindications, failure of a patient to lose weight on a salt-restricted diet would appear to be a useful guide for the shunt operation.

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Résumé L'ascite résistant aux thérapeutiques était jadis considérée comme la seule indication de mise en place d'un shunt péritonéo-jugulaire avec valve. Ces malades devaient être hospitalisés pendant longtemps avant l'opération et ils mouraient souvent d'insuffisance rénale aiguë. Dans la présente étude, chaque malade admis avec une ascite importante a été mis pendant deux semaines à un régime pauvre en sel. Onze malades qui n'avaient pas répondu à cet essai thérapeutique on été mis à un traitement médical, débutant par de l'aldactone. Tous ont perdu du poids. Mais la moitié sont morts en 6 mois et un seul a survécu plus d'un an. La perte de poids ne peut être considérée comme un bon critère de succès de la thérapeutique médicale. L'urée sanguine est un meilleur témoin.La clearance de sodium est une mesure simple qui différencie le syndrome hépatorénal de la nécrose tubulaire aiguë. L'absence de natriurèse sous diurétique constitue une indication opératoire. La rétention d'eau et de sel ne pose plus de problème après shunt péritonéo-jugulaire.La meilleure indication opératoire dans l'ascite importante est l'absence de perte pondérale sous régime pauvre en sel.

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Presented at the XXVIIth Congress of the Société Internationale de Chirurgie, Kyoto, Japan, September 3–8, 1977.     

Ambulatory surgery for PTFE grafts for dialysis

All prosthetic vascular accesses for hemodialysis performed in an ambulatory surgical setting between January 1992 and December 1996 were reviewed retrospectively. During this period, 400 out of the 450 vascular accesses with PTFE grafts (88.9%) were performed as outpatient cases. All operations were under local aesthesia without premedication. There were no postoperative deaths. Early complications were as follows: mild postoperative bleeding (readily controlled by local pressure): three (0.75%); surgical site infection: three (0.75%); early thrombosis (successfully treated with rescue surgery within the first 48 h, also in an ambulatory setting): four (1%). Four patients needed hospital admission (1%), one due to threatening arrhythmia, another because of anaphylactic reaction to cephazoline and two because of severe metabolic disorders. There was no increase in morbidity when the patients travelled long distances from the hospital to their homes immediately after the operation. These results show that prosthetic vascular accesses can be constructed and repaired in patients under local aesthesia and in an ambulatory surgical setting without an increase in morbidity. Delays due to waiting lists can be avoided, less resources are required, and complications associated with the prolonged use of central vein catheters for temporary hemodialysis can be reduced.     

Preferences for antimuscarinic therapy for overactive bladder

Study Type – Preference (discrete choice experiment) Level of Evidence 2a What’s known on the subject? and What does the study add? Whilst antimuscarinic treatments are widely used little work has been done to understand how patients consider the relative benefits and costs associated with their use. This study provides data which demonstrates both the perceived value of symptom reduction and burden associated with common antimuscarinic AEs. These findings may prove useful in informing prescribing decisions. OBJECTIVE ? To examine patient preferences and strength of preferences for treatment for the various symptoms of overactive bladder and adverse events associated with the use of antimuscarinic treatments. PATIENTS AND METHODS ? A discrete choice experiment (DCE) survey was developed that detailed treatment choices in terms of attributes relating to their efficacy in reducing symptoms and the likelihood of experiencing typical adverse events. Levels for each attribute were based on a literature review, qualitative interviews and a meta‐analysis of clinical trial data. ? Attributes were combined into choice sets using a fractional orthogonal design that had been folded over. Pairs of choice sets were presented to overactive bladder (OAB) patients (n= 332), who indicated which treatment alternative they preferred. Data were analysed using the conditional logit model. RESULTS ? Participants expressed the strongest preference for the avoidance of urgency incontinence episodes, followed by preference for a reduction in the experience of urinary urgency and the number of micturition episodes. The influence of the likelihood of experiencing an adverse event on treatment preference was also estimated. ? Finally, marginal rates of substitution were calculated to demonstrate the relative value of trade‐offs between the various attributes. ? Treatment preferences were found to be broadly similar across two patient age groups (i.e. under 45 s and 45 and over). CONCLUSION ? The study demonstrates that individuals with OAB place significant emphasis on the prospect of reduction in symptoms. Avoidance of incontinence episodes is particularly valued and equivalent to a much greater reduction in the frequency of micturition or experience of urgency. However, even a modest increase in the likelihood of experiencing an adverse event could easily motivate a change in treatment preference.     

Strategies for prophylaxis and treatment for aspiration

The absolute incidence of aspiration is difficult to define because of its relatively low occurrence and difficulty in diagnosis. The gastric volume predisposing to aspiration is larger than 30 ml. Fasting times for fluids have reduced; however, a large meal may require 9 hours of preoperative fasting. Preoperative carbohydrate-enriched beverages may attenuate postoperative catabolism. Aspiration occurs most frequently during induction and laryngoscopy. Awake fibre-optic intubation may be a suitable alternative in high-risk cases for aspiration. The role of cricoid pressure in anaesthesia needs re-evaluation as radiological and clinical evidence suggest that it may be ineffective and may impede intubation and ventilation. Chemoprophylaxis does not reduce the severity of aspiration pneumonitis as gastric bile is unaffected by these agents and induces a worse pneumonitis than gastric acid. Patients may be discharged home 2 hours after aspirating provided they are clinically unaffected and have postoperative surveillance.     

Reoperation for dysphagia after cardiomyotomy for achalasia

BACKGROUND: Although laparoscopic cardiomyotomy is considered to be the treatment of choice for achalasia, there is no consensus about how persistent or recurrent dysphagia after myotomy should be treated. In the current study we evaluated our experience with reoperation following previous cardiomyotomy. METHODS: Between 1992 and 2006, 19 patients underwent re-myotomy: 7 for persistent dysphagia, 12 for recurrent dysphagia. Different operative approaches were used, depending on surgeon's preference and the technique used for the first operation. RESULTS: The mean interval between the cardiomyotomies was 81 months. In 12 patients, the alternative body cavity to that used for the first operation was used for access in the revision operation. This was associated with a shorter operation time. Mean follow-up after the revision operation was 3.6 years. Mean satisfaction score was 7 (out of 10), and 89% of patients had an improvement in symptoms. CONCLUSION: Reoperation for persistent or recurrent achalasia achieves a satisfactory outcome in most patients. Using the alternative body cavity to that used in the original procedure facilitates minimal access techniques, and gives easier access to the operative field.