Epidemiological,clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus

Objectives. To define the incidence and prevalence of familial amyloidotic polyneuropathy (FAP) TTRVal30Met on the island of Cyprus. To study the clinical phenotype and genetic features of FAP TTRVal30Met in the Cypriot population.

Methods. The clinical and neurogenetic databases were used to identify probands with FAP TTRVal30Met and detailed family trees were constructed. Potential carriers of the mutation were identified from the family trees and assessed clinically and genetically. Transthyretin was completely sequenced in patients and potential carriers.

Results. Thirty-six patients carrying the TTRVal30Met mutation (one homozygote) from 22 families were identified. On 1 December 2003 the prevalence of FAP was 3.72/100,000 while the incidence is estimated to be 0.69/100,000 per year. The phenotype observed was characteristic for a length dependent sensorimotor and autonomic neuropathy with neuropathic pain. Mean age of onset was 46 years. Penetrance is estimated to be 28% and positive anticipation in the age of onset is found.

Conclusion. FAP is relatively prevalent in Cyprus which may be considered as another endemic focus of the disease in Europe. The mean age of onset and penetrance is different from the Portuguese and Swedish populations. Understanding the biological factors that determine these differences could potentially lead to therapeutic advances.     

Androgen receptor (CAG)n polymorphism and androgen levels in women with systemic lupus erythematosus and healthy controls

Systemic lupus erythematosus (SLE) is an autoimmune disorder that affects mainly females. Therefore, interrelations between the reproductive and immune system have been assumed. Considering the complex influence of hormones and receptors, we aimed to investigate the influence of androgens and androgen receptor (AR) polymorphism in women with SLE. One hundred and sixteen patients and 44 healthy women were investigated. Testosterone, sex hormone-binding globulin (SHBG), dehydroepiandrosterone-sulphate (DHEAS) concentrations and AR (CAG)n polymorphism were determined. SLE patients had significantly lower levels of total and free testosterone and DHEAS in comparison with the controls. No differences in the CAG repeat length between the groups were established. Women with two alleles carrying more than 22 CAG repeats had significantly higher levels of SHBG (101.51 ± 61.81 vs. 69.22 ± 45.93 nmol/l, p = 0.015) and DHEAS (3.11 ± 2.65 vs. 2.11 ± 3.06 μmol/l, p = 0.007) and a tendency to higher testosterone concentrations (2.35 ± 2.10 vs. 1.71 ± 1.70 nmol/l, p = 0.056) in comparison with other women. The CAG repeat length in the relatively longer (CAG)n allele was inversely related to the Systemic Lupus International Collaborating Clinics/ACR index (r = ?0.258, p = 0.009). In conclusion, the androgen receptor (CAG)n polymorphism is not related to the development of SLE, but it could modulate the severity of the lupus chronic damages as well as the androgen levels in women.     

Treatment of postdiscectomy low back pain by percutaneous posterior lumbar interbody fusion versus open posterior lumbar fusion with pedicle screws

BACKGROUND CONTEXT: Up to a fifth of the patients who had discectomy undergo spinal fusion because of disabling low back pain. PURPOSE: To compare the clinical outcome of percutaneous posterior lumbar interbody fusion (PPLIF) to that of open posterior lumbar fusion (PLF). STUDY DESIGN/SETTING: Two surgical methods that were tried in sequence at a university affiliated hospital. PATIENT SAMPLE: Sixty patients with disabling postdiscectomy low back pain. OUTCOME MEASURES: Pain intensity was scored on a visual analog scale (VAS) and the degree of disability was scored by the Oswestry disability index (ODI). METHODS: Thirty patients were treated by PPLIF. The outcome, after 24 months or more, was compared retrospectively with that of 30 consecutive suitable subjects who had been treated by PLF with pedicle screw fixation by the same surgeons for the same indication. RESULTS: In the PPLIF group, as compared with PLF group, mean operating time was shorter, blood loss was negligible, and mean hospital time was halved. By the last follow-up visit (greater than or equal to 2 years), pain and disability in PLF group had diminished by 31.9% and 20.1%, respectively. The corresponding figures in PPLIF group were 55.4% and 42.7%, respectively. CONCLUSIONS: In the context of postdiscectomy low back pain, PPLIF has proven, thus far, to be a safe procedure with improved clinical results.     

小隐静脉-腓肠神经营养血管逆行岛状皮瓣修复儿童足部软组织缺损

目的 探讨小隐静脉-腓肠神经营养血管逆行岛状皮瓣在修复儿童足部软组织缺损中的应用特点.方法 2006年7月至2008年6月,应用小隐静脉一腓肠神经营养血管逆行岛状皮瓣修复儿童足背、足跟及足踝部软组织缺损8例,皮瓣切取范围6 cm×5 cm～9 cm×7 cm,除2例足踝部外,6例修复足背、足跟,皮瓣上界超过小腿中上1/3交界处,其中1例接近胭窝横纹.结果 8例皮瓣全部成活良好.经1-17个月的随访,皮瓣外观满意,感觉功能有部分恢复,足跟处亦未出现溃烂,供区无功能障碍,双小腿发育未见明显差异,外观稍受影响.皮瓣上界可超过小腿中上1/3交界处达胭窝横纹,皮瓣旋转点位于外踝尖后上方4～6 cm.结论 儿童小隐静脉一腓肠神经营养血管逆行岛状皮瓣存活的范围与成人相比差异不大,操作简单,对小腿发育未见明显影响.是修复足部软组织缺损的较好方法.     

Intravenous lidocaine does not reduce length of hospital stay following abdominal hysterectomy

Purpose

Intravenous lidocaine given both intraoperatively and postoperatively decreases pain scores, reduces opioid consumption, and promotes faster return of bowel function following abdominal surgery. The purpose of this trial was to determine if intravenous lidocaine limited to the intraoperative period reduces length of hospital stay and improves functional recovery following abdominal hysterectomy.

Methods

Following Research Ethics Board approval and informed consent, women of American Society of Anesthesiologists’ class I and II undergoing abdominal hysterectomy were assigned randomly to lidocaine and control groups. Lidocaine subjects received an intravenous bolus of 1.5 mg·kg^?1 followed by an infusion of 3 mg·kg^?1·hr^?1, while control subjects received matching placebo. Patients, anesthesiologists, and study personnel were blinded, and anesthesia and multimodal perioperative analgesia were standardized. The primary outcome of this trial was discharge from hospital on or before the second postoperative day (POD2). Additional criteria were assessed for secondary outcomes, i.e., discharge fitness on POD2, length of hospital stay, opioid use, numeric rating scores for pain, quality of recovery, and recovery of bowel function.

Results

Ninety of the 93 women who were recruited completed the study protocol. The characteristics of the patients in both groups were similar—lidocaine group (n = 44) and control group (n = 46)—and no difference was noted between groups in the numbers of women discharged from hospital on POD2 (10 lidocaine, 15 control; P = 0.295). Days to discharge fitness (P = 0.666) and length of hospital stay (P = 0.456) were also similar. Differences in opioid consumption, pain scores, and recovery were neither clinically nor statistically significant.

Conclusion

Intraoperative administration of intravenous lidocaine did not reduce hospital stay or improve objective measures of analgesia and recovery following abdominal hysterectomy. This trial was registered at ClinicalTrials.gov (NCT00382499).