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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two first cousins, the offspring of consanguineous marriages, had features suggestive of Marden-Walker syndrome. Phenotypic similarities and differences for Schwartz-Jampel syndrome have been discussed. Main features of the Marden-Walker syndrome are failure to thrive, marked motor and mental retardation, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly. Peculiar facies is due to blepharophimosis, congenital ptosis, hypoplastic mandible and low-set and malformed ears. Posterior median cleft of the palate as well as cardiac and renal anomalies were noted in the case reported by Marden and Walker. Our Case 2 had dextrocardia. The present report suggests autosomal recessive inheritance of this syndrome.
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PMID:Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. 122 20

We report two brothers from nonconsanguineous parents who share hypotonia, ptosis, high arched palate, camptodactyly, fifth fingers clinodactyly, 2/3 toes syndactyly and psychomotor retardation. Differential diagnosis, such as the Ohdo syndrome, the Morillo-Cucci syndrome, the Marden-Walker-like syndrome, and the Frydman syndrome and discussed.
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PMID:Unknown syndrome in two male sibs with hypotonia, ptosis, hand malformations, 2/3 toes syndactyly, and mental retardation. 1042 13

At least six different forms of congenital muscular dystrophy are associated with structural changes of the central nervous system, and three of these have been mapped: merosin-deficient congenital muscular dystrophy on chromosome 6q2, Fukuyama congenital muscular dystrophy on chromosome 9q31, and muscle eye brain disease on chromosome 1p32. Walker-Warburg syndrome, congenital muscular dystrophy with calf hypertrophy, pontocerebellar hypoplasia, and normal eyes, and congenital muscular dystrophy with severe mental retardation and cerebellar cysts are nosologically distinct and have been excluded from the known congenital muscular dystrophy loci with structural changes of the central nervous system. Here, we describe a novel congenital muscular dystrophy syndrome which is phenotypically distinct from the recognized forms of congenital muscular dystrophy with brain involvement. Two siblings, a boy and a girl, were born to consanguineous parents from Sicily. Both children were born with adducted thumbs and toe contractures. They were floppy from birth, walked late, showed profound generalized muscle weakness including facial muscles, elevated creatine kinase levels of 200-700U/l, and histological changes compatible with muscular dystrophy. In addition, both showed ptosis, external ophthalmoplegia, mild mental retardation, and mild cerebellar hypoplasia on MRI. Immunocytochemistry showed normal expression of muscle membrane proteins including laminin alpha 2, laminin beta 2, and alpha-dystroglycan. Linkage analysis excluded the candidate loci on chromosomes 6q2, 9q31, and 1q32. The gene locus for congenital muscular dystrophy 1B, MDC 1B, on chromosome 1q42 was also excluded. Adducted thumbs are a distinct clinical sign that has not been reported in congenital muscular dystrophy before and should facilitate recognition of further patients with this disorder.
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PMID:Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. 1220 29

The aim of this study was to test a surgical technique for the treatment of stress urinary incontinence associated with genital prolapse through a transvaginal suspension anchored to the pubic bone. Thirty-seven patients with severe genital prolapse and urodynamically proven stress incontinence were operated on with this procedure from February 1998 to May 2000. Preoperatively a detailed history, pelvic examination and urodynamic studies were carried out. The degree of prolapse was assessed pre- and postoperatively in the lithotomy position in accordance with the classification proposed by Baden and Walker [8]. Two titanium bone screws with no. 1 polypropylene sutures attached to them and a battery-operated screw inserter are used to fix the vaginal sutures to the pubic bone bilaterally. The procedure is performed transvaginally with no abdominal or suprapubic incisions. Objective outcomes were assessed by symptom assessment, clinical examination and a full urodynamic evaluation at 6 months postoperatively, and annually by clinical evaluation. Subjective outcomes were assessed by directly interviewing the patients about their postoperative urinary symptoms and asking them to classify their level of satisfaction. An objective cure rate (no objective loss of urine during coughing in the absence of a simultaneous detrusor contraction) at the 6-month postoperative urodynamic evaluation was observed in 23 of 37 patients (62%). Recurrent anterior vaginal wall prolapse (grade 2) had developed in 7 of 37 patients (27%). Subjectively, 73% of the patients expressed satisfaction with the procedure. Early results using two bone screws into the pubis to fix the periurethral and perivesical tissues and vagina to the posterior surface of the pubic bone were disappointing. Based on our results we have abandoned the use of this procedure to correct stress incontinence associated with severe genital prolapse.
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PMID:Pubic bone anchoring devices for the surgical treatment of urinary stress incontinence in patients with severe genital prolapse. 1235 92

The objective of our study was to describe the surgical technique of laparoscopic vaginal vault suspension using the uterosacral ligaments. In addition, we performed a retrospective analysis of this laparoscopic technique on 133 patients with advanced symptomatic vaginal vault prolapse to evaluate the efficacy and durability of this laparoscopic technique. Efficacy and anatomic outcome were assessed by the Baden-Walker halfway scoring system before and after the surgical procedure. Preoperatively, all patients showed evidence of grade 2 or greater prolapse (descent to the level of the hymen). Fifty-one patients (38.4%) had uterovaginal prolapse, and 82 patients (61.6%) had vaginal vault prolapse. The patients were reevaluated at 1, 6, and 12 months postoperatively and yearly thereafter. The postoperative follow-up ranged from 2.0 to 7.3 years. Postoperatively, 116 patients (87.2%) had no recurrence of prolapse, and 17 patients (12.8%) had recurrence of prolapse. The major complication rate was 2.25%. We conclude that laparoscopic vaginal vault suspension is a safe, efficacious, and durable alternative for the management of vaginal vault prolapse.
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PMID:Laparoscopic vaginal vault suspension using uterosacral ligaments: a review of 133 cases. 1592 78

Baden-Walker classification grade III-IV (pelvic organ prolapse quantification [POP-Q] system stage III-IV) cystocele is associated with a constellation of abnormalities including urethral hypermobility, lateral defect, central defect, and concomitant vault and posterior wall prolapse. We describe a new transvaginal paravaginal technique to correct this group of abnormalities and report on our early results. We prospectively evaluated patients with high-grade cystocele who underwent repair with the new transvaginal paravaginal repair. Preoperative evaluation included history and physical examination, dynamic pelvic magnetic resonance imaging, urodynamics, and symptom questionnaire. All patients first underwent a distal urethral polypropylene sling surgery. After repair of the central defect of the cystocele, a paravaginal repair of the lateral defect was performed by using a circular 5 cm x 5 cm soft polypropylene mesh attached proximally to the sacrouterine/cardinal ligament, distally to the bladder neck, and laterally to the infralevator obturator fascia. Postoperative evaluation at 3-month intervals included history and physical examination using the POP-Q system, a voiding dysfunction and incontinence symptom questionnaire, the validated short form of the Urogenital Distress Inventory (UDI-6), a validated global quality-of-life question, and a postvoid residual. We performed the repair in 98 patients with a mean age of 65 years (range, 40 to 86 years). Of these, 26% underwent concomitant vaginal hysterectomy, 45% had enterocele repair, and 94% had rectocele repair. There were 2 complications, including transient ureteral obstruction due to bladder wall hematoma and 1 patient who presented with a recurrent enterocele requiring surgical repair. No patient experienced urinary retention. De novo stress urinary incontinence was seen in 3 patients; de novo urge incontinence was seen in 2 patients. Postoperative POP-Q scores showed 85% of patients with stage 0-I, 13% with stage II, and 2% with stage III anterior vaginal wall prolapse. Of patients with preoperative stress urinary incontinence, 70% reported never experiencing symptoms under any circumstances. Quality of life improved from 4.7 to 1 (P < 0.005). Transvaginal paravaginal repair of grade III-IV cystocele using soft polypropylene mesh fixed to the obturator fascia, sacrouterine ligaments, and bladder neck area provides excellent support of the central defect repair as well as repair of the lateral defect. The operation is safe, simple, and outpatient based, and provides excellent anatomic results with minimal complications. Concomitant distal polypropylene sling did not increase the rate of complications and did not compromise results of stress urinary incontinence surgery.
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PMID:Transvaginal paravaginal repair of high-grade cystocele central and lateral defects with concomitant suburethral sling: report of early results, outcomes, and patient satisfaction with a new technique. 1619 9

The objective of this study is to determine the efficacy and safety of vaginal approach to repair paravaginal defects in patients with symptomatic cystocele. This was a retrospective study of 66 women with a diagnosis of symptomatic cystocele grade 2 to 4, referred to our unit between January 2002 and March 2005. A clinical evaluation was carried out using the Baden-Walker classification before and after the surgery. The same surgical team performed every surgery. The repair of paravaginal fascial defects was carried out through a vaginal approach, exposing the arcus tendineus. The paravaginal fascial defects were corrected through suspension of vesicovaginal fascia to the arcus tendineus with nonreabsorbable Ethibond 0 sutures. Women were seen for follow-up at 3, 6, and 12 months. The presence of well-demarcated vaginal lateral sulci at grade 0, firmly apposed to the lateral pelvic sidewalls and no anterior relaxation with Valsalva maneuver, were used as criteria for cure. Grade 2 cystocele was diagnosed preoperatively in most women. The mean duration of complaints due to prolapse was 64.6 months. There were no major intraoperative complications. Mean time of inpatient stay was of 4.9 days. The cure rate at 12 months was 91.6%. There were five cases of recurrence of cystocele 6 months after surgery. Surgical repair of symptomatic cystocele through a paravaginal approach is a safe and efficacious technique. Vaginal approach to repair paravaginal fascia defects had a low postoperative morbidity and high cure rate at 12 months (91.6%).
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PMID:Cystocele - vaginal approach to repairing paravaginal fascial defects. 1652 54

For many years, researchers on this field have suffered from the lack of an efficient method for describing pelvic organ prolapse. Struggling to solve this problem, the International Continence Society has proposed a pelvic organ prolapse quantification (POP-Q) system [Bump RC, Mattiasson A, Bo K, Brubaker LP, DeLancey JO, Klarskov P, Shull B, Smith ARB, Am J Obstet Gynecol, 175(1):1956-1962, 1996], which was validated as a precise and reproducible technique for describing pelvic organ position. However, even though very precise at describing pelvic organ position, our critic to this system is its limited ability to quantify the prolapse itself, since it still classifies prolapse into four grades, almost the same way as Baden and Walker did in 1972. As a result, the same grade can include a wide prolapse intensity range. The objective of this paper is to propose a method that makes POP research more efficient by directly measuring prolapse as a continuous variable that requires lesser number of subjects in order to achieve statistical significance.
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PMID:Optimizing pelvic organ prolapse research. 1700 55

Even though very precise at describing pelvic organ position, our criticism to the Pelvic Organ Prolapse Quantification (POP-Q) system is its limited ability to quantify the prolapse itself, since it still classifies prolapse into four stages, almost the same way as Baden and Walker (Clin Obstet Gynecol 15(4):1070-1072, 1972) did in 1972. As a result, the same grade can include a wide prolapse intensity range. The objective of this study was to assess inter-observer reliability in the Pelvic Organ Prolapse Quantification Index (POP-Q-I; Lemos et al., Int Urogynecol J 18(6):609-611, 2007) on a prospective randomized trial. Fifty consecutive women were prospectively examined by two members of the urogynecology staff, blinded to each other's results. Spearman's rank correlation was used to assess inter-observer reliability. Excellent correlation coefficients were observed, with an overall coefficient of 96.5% (CI: 0.889-1.042; p < 0.0001). The POP-Q-I is a method that makes POP research more efficient by directly measuring prolapse as a continuous variable, which is statistically more powerful than the categorical variables proposed by the POP-Q system. This study suggests that the POP-Q-I is applicable to clinical POP research.
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PMID:Validation of the Pelvic Organ Prolapse Quantification Index (POP-Q-I): a novel interpretation of the POP-Q system for optimization of POP research. 1821 76

Classical bladder exstrophy is a rare congenital anomaly with male predominance. When occurring in women, the accompanying anatomical and functional abnormalities, including pelvic organ prolapse (POP), may cause significant problems in both pediatric and adult patients. The robotic surgical approach to POP has not been described for bladder exstrophy as it has been in otherwise normal women. We report our technique with the first robot-assisted laparoscopic sacrouteropexy for Baden-Walker grade-four POP in an 18-year-old classical bladder exstrophy patient. At 12 months of follow-up, there were no issues or symptoms/evidence of recurrence of POP. To our knowledge, this is the first reported robot-assisted laparoscopic sacrouteropexy for POP in a previously repaired bladder exstrophy case. This procedure may be a viable option in selected patients.
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PMID:Robot-assisted laparoscopic sacrouteropexy for pelvic organ prolapse in classical bladder exstrophy. 2042 88


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