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- Variable ptosis after botulinum toxin type a injection with positive ice test mimicking ocular myasthenia gravis. [Journal Article]
- J Neuroophthalmol 2013 Jun; 33(2):169-71.
: We describe a patient who received cosmetic botulinum toxin type A injections to the brow and subsequently developed unilateral ptosis that was variable during examination and was transiently improved after the ice pack test. Ptosis gradually resolved spontaneously over approximately 3 months. This is the third patient to have variable ptosis documented after botulinum toxin type A injection to the brow and the second to have a positive ice test. The ice test is not completely specific for myasthenia gravis but may, at times, improve ptosis resulting from other defects at the neuromuscular junction. Wound botulism now is much more common because of illicit drug use, and the ice test also might be positive in this setting.
- Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions. [JOURNAL ARTICLE]
- Orphanet J Rare Dis 2013 May 16; 8(1):75.
BACKGROUND:The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM.Methods and resultsUsing a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q.
CONCLUSIONS:Our data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS.
- Is rheumatic mitral valve repair still a feasible alternative?: indications, technique, and results. [Journal Article]
- Tex Heart Inst J 2013; 40(2):163-9.
Rheumatic heart disease is still a major cause of mitral valve dysfunction in developing countries. We present our early results of rheumatic mitral valve repair. From August 2009 through July 2011, 60 patients (24 male and 36 female) with rheumatic disease underwent mitral repair. The mean age was 51.1 ± 13.8 years (range, 16-77 yr). Forty-nine patients were in New York Heart Association functional class III or IV. Repair procedures included chordal and papillary muscle splitting, secondary chordal division, mitral ring annuloplasty (n=58), commissurotomy (n=36), chordal replacement (n=9), posterior leaflet extension (n=4), annular decalcification (n=2), and quadrangular resection (n=2). Secondary procedures included tricuspid ring annuloplasty, left atrial ablation, obliteration of left atrial appendage, aortic valve replacement, and left atrial reduction. The early (30-d) mortality rate was 1.7%. The mean follow-up time was 14.9 ± 5 months (range, 4-26 mo). Follow-up echocardiography revealed trivial or no mitral regurgitation (MR) in 35.5% and mild (1+) MR in 49.1% of patients. Only 1 patient presented with severe (3+) MR. The mean MR grade decreased from 3.2 ± 0.9 to 0.3 ± 0.4 postoperatively (P=0.001). Left ventricular end-diastolic diameter and left atrial diameter significantly decreased postoperatively (P=0.006 and P=0.001, respectively). The mean gradient over the mitral valve decreased significantly from 11 ± 5.9 mmHg to 3.5 ± 1.8 mmHg (P=0.001). Because current techniques of mitral repair can effectively correct valve dysfunction in most patients with rheumatic disease, the number of repair procedures should be increased in developing countries to prevent complications of mechanical valve placement.
- Pelvic organ prolapse surgery: long-term outcomes and implications for shared decision making. [Comment, Editorial]
- JAMA 2013 May 15; 309(19):2045-6.
- Long-term outcomes following abdominal sacrocolpopexy for pelvic organ prolapse. [Journal Article, Research Support, N.I.H., Extramural]
- JAMA 2013 May 15; 309(19):2016-24.
More than 225 000 surgeries are performed annually in the United States for pelvic organ prolapse (POP). Abdominal sacrocolpopexy is considered the most durable POP surgery, but little is known about safety and long-term effectiveness.To describe anatomic and symptomatic outcomes up to 7 years after abdominal sacrocolpopexy, and to determine whether these are affected by concomitant anti-incontinence surgery (Burch urethropexy).Long-term follow-up of the randomized, masked 2-year Colpopexy and Urinary Reduction Efforts (CARE) trial of women with stress continence who underwent abdominal sacrocolpopexy between 2002 and 2005 for symptomatic POP and also received either concomitant Burch urethropexy or no urethropexy. Ninety-two percent (215/233) of eligible 2-year CARE trial completers were enrolled in the extended CARE study; and 181 (84%) and 126 (59%) completed 5 and 7 years of follow-up, respectively. The median follow-up was 7 years. MAIN OUTCOMES AND MEASURES: Symptomatic POP failure requiring retreatment or self-reported bulge; or anatomic POP failure requiring retreatment or Pelvic Organ Prolapse Quantification evaluation demonstrating descent of the vaginal apex below the upper third of the vagina, or anterior or posterior vaginal wall prolapse beyond the hymen. Stress urinary incontinence (SUI) with more than 1 symptom or interval treatment; or overall UI score of 3 or greater on the Incontinence Severity Index.By year 7, the estimated probabilities of treatment failure (POP, SUI, UI) from parametric survival modeling for the urethropexy group and the no urethropexy group, respectively, were 0.27 and 0.22 for anatomic POP (treatment difference of 0.050; 95% CI, -0.161 to 0.271), 0.29 and 0.24 for symptomatic POP (treatment difference of 0.049; 95% CI, -0.060 to 0.162), 0.48 and 0.34 for composite POP (treatment difference of 0.134; 95% CI, -0.096 to 0.322), 0.62 and 0.77 for SUI (treatment difference of -0.153; 95% CI, -0.268 to 0.030), and 0.75 and 0.81 for overall UI (treatment difference of -0.064; 95% CI, -0.161 to 0.032). Mesh erosion probability at 7 years (estimated by the Kaplan-Meier method) was 10.5% (95% CI, 6.8% to 16.1%).During 7 years of follow-up, abdominal sacrocolpopexy failure rates increased in both groups. Urethropexy prevented SUI longer than no urethropexy. Abdominal sacrocolpopexy effectiveness should be balanced with long-term risks of mesh or suture erosion.clinicaltrials.gov Identifier: NCT00099372.
- Transanal haemorrhoidal dearterialisation with mucopexy versus stapler haemorrhoidopexy: a randomised trial with long-term follow-up. [Journal Article]
- Ann R Coll Surg Engl 2013 May; 95(4):246-51.
The present study aimed to compare the long-term results of transanal haemorrhoidal dearterialisation (THD) with mucopexy and stapler haemorrhoidopexy (SH) in treatment of grade III and IV haemorrhoids.One hundred and twenty-four patients with grade III and IV haemorrhoids were randomised to receive THD with mucopexy (n=63) or SH (n=61). A telephone interview with a structured questionnaire was performed at a median follow-up of 42 months. The primary outcome was the occurrence of recurrent prolapse. Patients, investigators and those assessing the outcomes were blinded to group assignment.Recurrence was present in 21 patients (16.9%). It occurred in 16 (25.4%) in the THD group and 5 (8.2%) in the SH group (p=0.021). A second surgical procedure was performed in eight patients (6.4%). Reoperation was open haemorrhoidectomy in seven cases and SH in one case. Five patients out of six in the THD group and both patients in the SH group requiring repeat surgery presented with grade IV haemorrhoids. No significant difference was found between the two groups with respect to symptom control. Patient satisfaction for the procedure was 73.0% after THD and 85.2% after SH (p=0.705). Postoperative pain, return to normal activities and complications were similar.The recurrence rate after THD with mucopexy is significantly higher than after SH at long-term follow-up although results are similar with respect to symptom control and patient satisfaction. A definite risk of repeat surgery is present when both procedures are performed, especially for grade IV haemorrhoids.
- Poor long term outcomes after prolapse surgery. [Journal Article]
- BMJ 2013.:f3091.
- History of pelvic prolapsus. [Journal Article]
- Tunis Med 2013 Apr; 91(4):227-9.
The history of pelvic prolapse back to the era of the pharaohs, about 1500 years before Christ. Hippocrates practiced succussion. Grenades, pieces of soaked linen were used as pessaries.Over the centuries, the eolution in understanding of this female pathology led to different treatment modalities, some of which we can currently seem strange.
- Abdominal approaches to pelvic prolapse repairs. [JOURNAL ARTICLE]
- Curr Opin Urol 2013 May 13.
PURPOSE OF REVIEW:Abdominal sacrocolpopexy has been considered the gold standard for vaginal vault prolapse repair for several decades. Although transvaginal approaches gained popularity as minimally invasive alternatives, complications related to the use of vaginal mesh have led surgeons to perform these repairs less frequently. By incorporating laparoscopic and robotic techniques into the traditional open abdominal sacrocolpopexy, surgeons can offer the benefits of minimally invasive surgery while avoiding risks of vaginal mesh. This review article aims to evaluate the efficacy and outcomes of abdominal sacrocolpopexy by comparing open, laparoscopic, and robotic assisted laparoscopic surgery.
RECENT FINDINGS:The excellent outcomes of open abdominal sacrocolpopexy have repeatedly been shown in published, randomized data. This has been further validated in minimally invasive techniques through randomized data evaluating the outcomes of laparoscopic sacrocolpopexy. Among the various sacrocolpopexy techniques, outcomes are similar among the open, laparoscopic, and robotic approaches. Minimally invasive surgeries have been shown to have advantages in terms of perioperative morbidity.
SUMMARY:The superior outcomes of abdominal sacrocolpopexy are available using minimally invasive techniques for pelvic organ prolapse repair. Further research with randomized data is required to establish how these approaches compare to each other. Given the inherent advantages of minimally invasive surgery, robotic or laparoscopic abdominal sacrocolpopexy may become the preferred approach to abdominal pelvic organ prolapse repair.
- Socioeconomic status and race as predictors of treatment-seeking behavior for pelvic organ prolapse. [JOURNAL ARTICLE]
- Am J Obstet Gynecol 2013 May 11.