ABSTRACT
BACKGROUND: Anal pressure vectography is an anorectal physiology study that evaluates the radial pressures in the anal canal from which a symmetry index that indicates the anatomical integrity of the anal sphincter can be calculated. However, there are conflicting opinions of its validity. Since endoanal ultrasonography (EAUS) has been recognized as the gold standard for detecting anal sphincter disruption, the aim of this pilot study was to observe whether a vector symmetry index (VSI) determined at the level of injury shown in EAUS has a better sensitivity than the overall VSI in detecting anal sphincter disruption. METHODS: A group of 11 women in whom EAUS had shown defects in both the internal and the external anal sphincters underwent anorectal manometry using a water-perfused vector manometry catheter, and the overall VSI and the VSI at the level of sphincter disruption (shown on EAUS) were calculated. RESULTS: Overall VSI at rest indicated internal sphincter injury in 7 women (64%) but the VSI at the level of disruption indicated internal sphincter injury in all 11 women (100%, p=0.0137). Similarly, the overall VSI at squeeze indicated external sphincter injury in 6 women (55%), but the VSI at the level of disruption indicated external sphincter injury in 10 women (91%, p=0.0049). CONCLUSIONS: Our pilot study showed that EAUS and VSI are equally sensitive in diagnosing a localized anal sphincter defect, provided a segment-for-segment comparison is carried out.
Subject(s)
Anal Canal/diagnostic imaging , Anal Canal/injuries , Endosonography , Manometry/methods , Fecal Incontinence/etiology , Female , Humans , Obstetric Labor Complications/diagnostic imaging , Pilot Projects , Pregnancy , Sensitivity and SpecificityABSTRACT
OBJECTIVE: Anal incontinence occurs as a result of damage to pelvic floor and the anal sphincter. In women, vaginal delivery has been recognized as the primary cause. To date, figures quoted for overt third degree anal sphincter tear vary between 0% and 26.9% of all vaginal deliveries and the prevalence of anal incontinence following primary repair vary between 15% and 61%. Our aim was to analyse the long-term (minimum 10 years post primary repair) anorectal function and quality of life in a cohort of women who suffered a third degree tear (Group 1) and compare the results with a cohort of women who underwent an uncomplicated vaginal delivery (Group 2) or an elective caesarean delivery (Group 3). METHOD: In all, 107 patients who suffered a third degree tear between 1981 and 1993 were contacted with a validated questionnaire. The two control groups comprised of 125 patients in each category. Those who responded to the questionnaire were invited for anorectal physiology studies and endoanal ultrasound. RESULTS: Of the total number contacted, 54, 71 and 54 women from the three groups returned the completed questionnaire. In the three groups, a total of 28 (53%), 13 (19%) and six (11%) complained of anal incontinence (P < 0.0001) respectively. Comparison of quality of life scores between the groups showed a poorer quality of life in those who suffered a tear (P < 0.0001). In addition, in spite of primary repair, 13 (59%) patients in group 1 showed a persistent sphincter defect compared to one (4%) occult defect in Group 2 and none in Group 3. CONCLUSION: Our study indicates that long-term results of primary repair are not encouraging. It therefore emphasizes the importance of primary prevention and preventing further sphincter damage in those who have already suffered an injury (during subsequent deliveries).
Subject(s)
Anal Canal/injuries , Anus Diseases/etiology , Delivery, Obstetric/adverse effects , Fecal Incontinence/etiology , Quality of Life , Adult , Anal Canal/surgery , Analysis of Variance , Anus Diseases/epidemiology , Anus Diseases/prevention & control , Case-Control Studies , Cesarean Section/methods , Delivery, Obstetric/methods , Endosonography , Fecal Incontinence/diagnosis , Fecal Incontinence/epidemiology , Female , Follow-Up Studies , Humans , Injury Severity Score , Lacerations/etiology , Lacerations/surgery , Manometry , Pelvic Floor/injuries , Perineum/injuries , Pregnancy , Prevalence , Probability , Risk Assessment , Severity of Illness Index , Surveys and Questionnaires , Young AdultABSTRACT
We report a stillborn female infant with multiple internal and external anatomic abnormalities and mosaicism for isochromosome 12p. These abnormalities included webbed neck, low-set ears, lower jaw tooth bud, left simian crease, shield chest, focal aplasia cutis, diaphragmatic hernia, hypoplastic lungs, agenesis of pericardium, and Meckel's diverticulum. Karyotypic analysis on cord blood lymphocytes showed 10% mosaicism of 46,XX/47,XX, + i(12p), and analysis of skin fibroblasts showed 50% mosaicism for the same karyotype. The parental karyotypes were normal. There are many reported cases describing the anomalies seen in isochromosome 12p. None of these cases, however, have displayed pericardial agenesis or aplasia cutis. The clinical and cytogenetic features of Pallister-Killian syndrome are reviewed.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations/genetics , Chromosomes, Human, Pair 12/ultrastructure , Pericardium/abnormalities , Skin Abnormalities , Chromosome Disorders , Female , Humans , Infant, Newborn , Mosaicism/genetics , SyndromeABSTRACT
A phenotypic female infant with Smith-Lemli-Opitz (SLO) syndrome was found to have a 46,XY karyotype. Autopsy showed normal tests for age and normal Wolffian duct structures. The serum testosterone level was unusually high, suggesting that the failure of virilization of the external genitalia in the child might be due to a defect in testosterone conversion to dihydrotestosterone or a lack of end-organ receptors for the same. An additional feature not previously described in association with SLO syndrome was present, which was clinical hypoglycemia with nesidioblastosis.