Anal sphincter trauma and anal incontinence in urogynecological patients.

OBJECTIVES: To determine the prevalence of evidence of residual obstetric anal sphincter injury, to evaluate its association with anal incontinence (AI) and to establish minimal diagnostic criteria for significant (residual) external anal sphincter (EAS) trauma. METHODS: This was a retrospective analysis of ultrasound volume datasets of 501 patients attending a tertiary urogynecological unit. All patients underwent a standardized interview including determination of St Mark's score for those presenting with AI. Tomographic ultrasound imaging (TUI) was used to evaluate the EAS and the internal anal sphincter (IAS). RESULTS: Among a total of 501 women, significant EAS and IAS defects were found in 88 and 59, respectively, and AI was reported by 69 (14%). Optimal prediction of AI was achieved using a model that included four abnormal slices of the EAS on TUI. IAS defects were found to be less likely to be associated with AI. In a multivariable model controlling for age and IAS trauma, the presence of at least four abnormal slices gave an 18-fold (95% CI, 9-36; P < 0.0001) increase in the likelihood of AI, compared with those with fewer than four abnormal slices. Using receiver-operating characteristics curve statistics, this model yielded an area under the curve of 0.86 (95% CI, 0.80-0.92). CONCLUSIONS: Both AI and significant EAS trauma are common in patients attending urogynecological units, and are strongly associated with each other. Abnormalities of the IAS seem to be less important in predicting AI. Our data support the practice of using, as a minimal criterion, defects present in four of the six slices on TUI for the diagnosis of significant EAS trauma.

Prevalence of anal sphincter injury in primiparous women.

OBJECTIVE: To determine the prevalence of obstetric anal sphincter injuries (OASIS) in a cohort of primiparous women and to evaluate their association with demographic, obstetric and ultrasound parameters. METHODS: This was a retrospective analysis of the ultrasound volume datasets of 320 primiparous women, acquired at 5 months postpartum. Tomographic ultrasound imaging (TUI) was used to evaluate the external anal sphincter (EAS). A significant EAS defect was diagnosed if a defect of > 30° was seen in four or more of six TUI slices bracketing the EAS. RESULTS: Significant EAS defects were found in 69 women (27.9% of those delivered vaginally). In nine of those a third-degree tear was diagnosed intrapartum and was sutured. In 60 women with significant defects there was no documentation of sphincter damage at birth, implying unidentified or occult defects (60/69, 87.0%). Among them, 29 had had a second-degree tear, two a first-degree tear and three an intact perineum. In 31 cases an episiotomy had been performed, with five extensions to a third-degree tear. On multivariate analysis only forceps delivery was significantly associated with OASIS. CONCLUSIONS: In this cohort of primiparous women we found OASIS in 27.9% of vaginally parous women, most of which had not been diagnosed in the delivery suite. There seems to be a need for better education of labor-ward staff in the recognition of OASIS. On the other hand, it is conceivable that some defects may be masked by intact tissue. The significance of such defects remains doubtful. Forceps delivery was the only identifiable risk factor.

Linkage of the locus for cerebral cavernous hemangiomas to human chromosome 7q in four families of Mexican-American descent.

OBJECTIVE: To determine with greater precision the map location of the locus associated with familial cavernous hemangiomas. BACKGROUND: Cavernous malformations of the brain are a significant cause of seizures, progressive or apoplectic neurologic deficit, and headache. Prevalence estimates from autopsy series vary from 0.39 to 0.9%. This disorder (OMIM #116860) can be inherited as an autosomal dominant trait with variable penetrance. Linkage to markers on the long arm of chromosome 7 was recently reported in separate reports in three apparently unrelated Hispanic kindreds as well as in two kindreds of non-Hispanic descent. DESIGN/METHODS: We examined clinically, by MRI scanning, and by pathologic examination of surgical specimens, members of four large Mexican-American families segregating cavernous hemangiomas of the brain. Linkage analysis was performed with use of blood specimens from morphologically proven cases. Two-point linkage analysis was performed with the MLINK program of the LINKAGE package. Multipoint analysis was performed between two markers and the disease locus with LINKMAP in the FASTLINKAGE package. Allele frequencies were set as described by the Genome Database (GDB). Maximum penetrance for the disease allele was set to 0.75. RESULTS: The highest lod score was observed for marker D7S652 with Zmax = 6.66 at theta(max) = 0.00. Multipoint LOD score analysis placed the disease locus in the 11 cM interval between markers D7S630 and D7S527 with Zmax = 9.19. Haplotype analysis is in agreement with the placement of the disease gene between D7S630 and D7S527 and further shows a minimal shared region within this interval, indicating a founder effect in the establishment of the mutation in these families. CONCLUSIONS: We confirmed the linkage of cavernous hemangioma to markers on the long arm of chromosome 7q, and the estimate of the map location has been refined to a region of shared haplotype between markers D7S630 and D7S527 in four Mexican-American families who may be descended from a common ancestor in Sonora County, Mexico.

Evaluation of inhA gene and catalase-peroxidase gene among isoniazid-sensitive and resistant Mycobacterium tuberculosis isolates.

The katG gene and the inhA gene of 30 INH-resistant (INH-R) and 28 INH-sensitive (INH-S) isolates of M. tuberculosis from Haiti and Maryland were analysed by PCR to establish the presence and frequency of two postulated mechanisms of INH-resistance, total katG gene deletion and inhA Ser94 to Ala94 amino acid substitution. Only two of 30 INH-R isolates (3%) appear to have total katG gene deletions. All 28 INH-S isolates (100%) produced a PCR product at both the 5' and the 3' ends of the katG gene. Gene deletion of katG is a rare mechanism of INH resistance. Allele specific oligonucleotide hybridisation analysis of the inhA PCR products from the same 58 isolates revealed no mutation at amino acid 94 or directly surrounding it. Other inhA gene mutations may be responsible for INH resistance in M. tuberculosis. Diagnostic strategies using katG gene deletion or inhA Ser94 mutations would fail to detect almost all INH-R isolates.