Impact of TRREMS on symptoms of obstructed defecation due to rectocele: predictive factors and outcomes.

BACKGROUND: The aim of this study was to evaluate the impact of the transanal repair of rectocele and rectal mucosectomy with a single circular stapler (TRREMS) on the treatment of obstructed defecation due to rectocele and to identify the predictive factors for unsuccessful results. METHODS: Consecutive patients with obstructed defecation symptoms (ODS) associated with rectocele who had the TRREMS procedure were included. Each patient was assessed by echodefecography, manometry, and colonic transit time as well as the Cleveland Clinic constipation score (CCS) before therapy and at follow-up after 6 months. Reduction in the CCS score was calculated as a ratio. Factors correlated with a decrease in the CCS were analyzed in a univariate analysis. RESULTS: A total of 81 patients were included. Nineteen patients had postoperative complications that were not severe: 7 (8.6%) had tenesmus, 6 (7.4%) stenosis (4 treated with digital dilatation and 2 with endoscopic stricturectomy), 4 (4.9%) residual mucosal prolapse treated with rubber band ligation, 1 (1.2%) early bleeding, and 1(1.2%) thrombosis. Seventy-nine (97.5%) patients had a significant clinical response with significant reduction of the CCS constipation score from median 13 (range 17-10) to 4 (range, 8-2) (p = 0.0001); only 2 patients (2.5%) had an unsatisfactory response, complaining of straining and vaginal digitation during the evacuatory effort. Patients with anismus previously treated with biofeedback had a lower reduction ratio of the CCS score compared with patients without anismus (61.2 ± 2.8% versus 70.9% ± 1.5, p = 0.0006). There were no significant differences in the reduction of the CCS according to age, parity, type of delivery, previous hysterectomy, post-menopausal status, rectal mucosal prolapse and/or associated rectal intussusception, grade of rectocele and presence of complications. CONCLUSIONS: The TRREMS procedure significantly improved evacuation disorders in this study. Appropriate selection of patients is key for the success of this approach. Anismus even if previously treated with biofeedback, was the main predictive factor of unsuccessful treatment.

Pubovisceral muscle and anal sphincter defects in women with fecal or urinary incontinence after vaginal delivery.

BACKGROUND: Vaginal delivery is the most frequent cause of direct anal sphincter trauma as well as pelvic floor muscle defects in women with corresponding signs and symptoms. The aim of the present study was to identify anatomical and functional abnormalities of the anal canal and pelvic floor in women who had had a vaginal delivery and determine the relationship between such abnormalities and the symptoms and severity of fecal incontinence (FI). METHODS: Consecutive female patients with symptoms of fecal and/or urinary incontinence were recruited through the colorectal and gynecological outpatient clinics at two large university hospitals and were eligible if they had had at a vaginal delivery. All women were assessed for symptoms FI by means of the Cleveland Clinic Florida Incontinence Scale (CCFIS) and for urinary incontinence symptoms, including the presence of complaints of any involuntary leakage of urine, leakage on exertion, sneezing, or coughing, and/or leaking or losing urine associated with an urge to urinate. All women underwent anorectal and endovaginal three-dimensional ultrasonography and anal manometry. The extent of the anal sphincter and PVM defects identified by ultrasound was scored from 1 to 6 based on the longitudinal involvement of the external and internal anal sphincter, the radial angle of the anterior external anal sphincter defect and the longitudinal involvement of the PVM. RESULTS: There were 130 women and 89 (68%) had at least one defect of the anal sphincter or the pubovisceral muscle or both (42/32% had a pubovisceral muscle defect with or without sphincter defects, 47/36% women had an intact pubovisceral muscle but sphincter defect); and 41 (32%) had intact anal sphincter and pubovisceral muscles. The mean levator hiatus area at rest in women with anal sphincter and/or pubovisceral muscle defects was 18 (± 4 SD) which was significantly greater than in women with no defects (16 ± 3 SD; p = 0.01). Women with PVM defects had significantly higher ultrasound scores (median ultrasound score = 4/range 1-10 vs Intact = 2/range 2-5), indicating more extensive defects (p = 0.001). Bivariate analysis revealed a positive association (p < 0.05) between increasing FI symptom severity (CCFIS score) and women with PVM defects (ρ = 0.6913). Within the group of women with defects mean maximum anal squeeze pressure was significantly lower in women with PVM defect (mean 73 ± 34 SD mmHg vs mean 93 ± 38 SD; p = 0.04). Women with PVM defects had significantly higher median CCFIS scores (median score, 7/range 0-16) compared to women with intact PVM (4/range 0-10) (p < 0.001). There was a significant positive correlation between the CCFIS and ultrasound scores (ρ = 0.625; p < 0.001). Bivariate analysis revealed a negative correlations between the CCFIS score and the lengths of the anterior EAS (ρ = - 0.5621, p < 0.001), IAS (ρ = - 0.40, p < 0.001) and the area of the levator hiatus (ρ = 0.5211, p = 0.001). However, no significant correlations were observed between CCFIS scores and the gap measurement (ρ = 0.101; p = 0.253) or the resting (ρ = - 0.08, p = 0.54) or squeeze pressure (ρ = - 0.12; p = 0.34) values on anal manometry. The variables associated with worsening FI symptom severity (CCFIS score) that remained significant in multiple linear regression included the shorter lengths of the anterior EAS and/or the lengths of the anterior IAS and increased area of the levator hiatus. CONCLUSIONS: The study data demonstrate that half of the women had combined defects of PVM and sphincter. There were correlations between anatomical abnormalities including the anal sphincter and/or pubovisceral muscle defects with decrease in the anal pressures and increased severity of FI.

Dynamic translabial ultrasound versus echodefecography combined with the endovaginal approach to assess pelvic floor dysfunctions: How effective are these techniques?

BACKGROUND: The aim of this study was to evaluate the role of dynamic translabial ultrasound (TLUS) in the assessment of pelvic floor dysfunction and compare the results with echodefecography (EDF) combined with the endovaginal approach. METHODS: Consecutive female patients with pelvic floor dysfunction were eligible. Each patient was assessed with EDF combined with the endovaginal approach and TLUS. The diagnostic accuracy of the TLUS was evaluated using the results of EDF as the standard for comparison. RESULTS: A total of 42 women were included. Four sphincter defects were identified with both techniques, and EDF clearly showed if the defect was partial or total and additionally identified the pubovisceral muscle defect. There was substantial concordance regarding normal relaxation and anismus. Perfect concordance was found with rectocele and cystocele. The rectocele depth was measured with TLUS and quantified according to the EDF classification. Fair concordance was found for intussusception. There was no correlation between the displacement of the puborectal muscle at maximum straining on EDF with the displacement of the anorectal junction (ARJ), compared at rest with maximal straining on TLUS to determine perineal descent (PD). The mean ARJ displacement was similar in patients with normal and those with excessive PD on TLUS. CONCLUSIONS: Both modalities can be used as a method to assess pelvic floor dysfunction. The EDF using 3D anorectal and endovaginal approaches showed advantages in identification of the anal sphincters and pubodefects (partial or total). There was good correlation between the two techniques, and a TLUS rectocele classification based on size that corresponds to the established classification using EDF was established.

Ontogenetic and sexual differences in the venom of Bothrops moojeni: insights from a litter and its mother.

Variability in snake venom composition is well-documented and crucial for understanding snake ecology and predicting snakebites. In this study, we characterize the venom composition and biological activities of newborn female and male Bothrops moojeni and their mother. Our results reveal significant differences between the venom of newborn females and males, demonstrating a broad and diverse range of proteins. The venoms of newborn females showed higher serine protease effects, increased hemorrhagic activity, and greater lethality compared to the venom of newborn males. However, no differences were observed in phospholipase A2 and coagulant activity. The differences in protein composition and toxic activities between maternal and neonatal venom, as well as between the venoms of newborn females and males, contribute to understanding the diverse outcomes of snakebites. These results underscore the importance of considering sex and ontogeny in understanding venom composition in snakes.

[Cavernous malformation of the pineal region. Case report and review of the literature]. / Malformación cavernosa de la región pineal. Caso clínico y revisión de la literatura.

Cavernous malformations rarely occur in the pineal region with only 21 reported to date. Although its diagnosis is not easy because of the extreme rareness of this condition, the presence of this lesion can be suspected based on its typical radiological findings. We report the case of a 57-year-old woman presented with desorientation, somnolence and diplopy. The CT-scan showed an acute hemorrhage in the pineal region and triventricular hydrocephalus. An MRI suggested a cavernous malformation. The patient was operated with total en-bloc removal of the lesion. We conclude that surgical exploration and total resection is the treatment of choice when the diagnosis of cavernous angioma is suspected of the basis of neuroimaging.

Aerococcus viridans urinary tract infection in a pediatric patient with secondary pseudohypoaldosteronism.

Aerococcus viridans is a catalase-negative gram-positive bacterium rarely found as human pathogen. Some cases of urinary tract infection (UTI) have been described in immunocompromised adults. In this article we describe a UTI case caused by this agent in a child with severe obstructive uropathy, clinically presented with secondary pseudohypoaldosteronism (SPHA). Although A. viridans is rarely associated with child infection, it can be responsible for life threatening conditions/ situations. To our knowledge, A. viridans UTI has never been reported in pediatric patients.

Temporal giant cell reparative granuloma: a reappraisal of pathology and imaging features.

We report a case of large temporal giant cell reparative granuloma in a 72-year-old man. MR imaging depicted a right temporal expansile multiloculated lesion, with hyper- and hypointense signal areas on T2-weighted images, heterogeneously enhancing after gadolinium administration. Cortical thinning and bone remodeling of the temporal squamous portion were better seen on CT. The patient underwent surgery, and the diagnosis was achieved by the correlation of imaging, histologic, and laboratory findings.

Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function.

A newborn male with the characteristic phenotype of classic rhizomelic chondrodysplasia punctata (RCDP) and with the usual and severe radiographic skeletal abnormalities is described. The parents were young, healthy, and not consanguineous; the mother had not used licit or illicit drugs, alcohol, or tobacco during pregnancy and had not been exposed to radiation or teratogenic chemicals. The clinical phenotype led us to study peroxisomal function. Plasmalogen content in erythrocytes, membrane, and fibroblasts; dihydroxyacetone phosphate acyltransferase (DHAP-AT), alkyldehydroxyaceton phosphate synthetase (a gift from Professor Henk van der Boch, Utrech) in fibroblasts; and phytanic and pristanic acids in plasma showed normal values. Immunocytofluorescence study with antibodies against peroxisomal membrane showed normal organelles. We found no reference in the literature of a case of RCDP with normal peroxisomal functions, but non-CDP has been described with peroxisomal dysfunction. This phenotype (RCDP) may be due to other metabolic error.

[Endomyocardial fibrosis. Presentation of a clinical case]. / Fibrose endomiocárdica. Apresentação de um caso clínico.

The authors report a case of right ventricle endomyocardial fibrosis in a 6-year-old boy. Particular attention is paid to the discussion of the new methods for diagnosing and treating these conditions, namely echocardiography, endomyocardial biopsy and surgery.

[Occipital condyle fracture without neurological deficit: apropos of a case]. / Fractura de cóndilo occipital sin déficit neurológico: a propósito de un caso clínico.

Fracture of the occipital condyles is a rare pathology that can be easily undiagnosed. The bibliographic references on this theme are scarce and the majority are related to patients with palsy of the low cranial nerves and/or a high cervical subluxation with abnormal posture of the neck. The authors describe one case of the occipital condyle fracture without clinical manifestations other than persistent pain, and without alterations of the high cervical region. The patient was submitted to conservative treatment by means of a cervical collar due to the existence of minor symptoms. The clinical criteria that should lead to the study of this pathology are discussed, just as the use of a computerized tomography bone window as the fundamental instrument in its diagnosis and classification.

[How our pediatric services work]. / Como vão os nossos Serviços de Pediatria.

The results of a questionnaire sent by the College of Pediatrics of the Portuguese Doctors Association (Ordem dos Médicos) to the pediatric departments all over the country are presented. From the answers of fifty-one services, physical conditions, equipment, human resources, assistancial and scientific activities developed are characterized.

Regional variations in brain oxygenation during temporary clipping in aneurysm surgery.

OBJECTIVES: Brain tissue oxygen concentration (PbtO(2)) monitoring has been used in aneurysm surgery to detect decreased brain oxygenation during temporary clipping. The effects of circulatory interruption according to different aneurysm locations have not been established. In this work, variations in PbtO(2) during temporary clipping were studied in anterior communicating (AcomA), posterior communicating (PcomA) origin, and middle cerebral artery (MCA) aneurysm surgery. METHODS: PbtO(2) was monitored during surgery of 41 patients; aneurysms were located in the AcomA (10 cases), origin of PcomA (8 cases), and MCA bifurcation (23 cases). Temporary clips were used in all cases. Variations in PbtO(2) values obtained during application of temporary clips were evaluated and studied according to the duration and type of circulatory interruption for each aneurysm location. RESULTS: In AcomA aneurysm surgery, a significant decrease in PbtO(2) values was found in 31% of the periods of temporary clipping, whereas in PcomA and MCA aneurysm surgery, significant decreases were found in all temporary clip applications (100%). In MCA aneurysms, the amplitude of decrease in PbtO(2) was higher when the circulatory interruption lasted for 2 or more minutes, compared with shorter periods of temporary clipping. DISCUSSION: During temporary clipping, different variations in PbtO(2) values were obtained when comparing frontal and temporal regions of monitoring: in MCA and PcomA origin aneurysms, significant variations were registered in all periods of temporary regional circulatory interruption, but the same results were not found in frontal monitoring for AcomA aneurysm surgery.

Intraoperative brain oxygenation monitoring and vasospasm in aneurysmal subarachnoid hemorrhage.

BACKGROUND: Vasospasm is a frequent complication of subarachnoid hemorrhage (SAH), implicated in poor outcome, and prediction of its occurrence might be important on the therapeutic approach of this condition. Brain oxygenation in aneurysmal SAH was prospectively monitored during surgery in 28 patients, using brain tissue oxygen pressure (PbtO(2)), studying its association with the occurrence of post-operative vasospasm, detected by transcranial Doppler. METHODS: PbtO(2) monitoring was performed during surgery of 28 patients with aneurysmal SAH, using a polarographic microcatheter (Licox; GMS, Kiel, Germany), inserted into the cerebral tissue. The aneurysms were localized in the anterior communicating artery (AcoA) complex (eight cases), in the posterior communicating artery (Pcom) origin (seven cases), and in the middle cerebral artery (MCA) bifurcation (13 cases). Basal PbtO(2) values, obtained immediately before application of temporary or definitive clips, were studied according to age, clinical status and CT findings. The association between the basal values and the occurrence of increased blood flow velocity in the post-operative transcranial Doppler (TCD vasospasm) was investigated. RESULTS: Post-operative TCD vasospasm developed in 13 patients, all of them with basal values inferior to 10 mmHg. PbtO(2) basal value was significantly lower in cases that developed TCD vasospasm. This association was independent of age, clinical status, or CT findings. CONCLUSION: The finding of low intraoperative basal PbtO(2) values may be an indicator for a high risk of occurrence of post-operative TCD vasospasm in cases of aneurysmatic SAH.

Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency.

UNLABELLED: The authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease. CONCLUSION: Pyruvate kinase deficiency, as other erythrocyte enzymopathies, must be considered in the differential diagnosis of non-immune hydrops fetalis. This has important implications for clinical investigations, therapy and genetic counselling.

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.

RFLPs of 36 normal and 41 mutant alleles at the phenylalanine hydroxylase locus were determined in 31 Portuguese kindreds. A total of 14 haplotypes including 10 normal and 7 mutant alleles were observed. Almost 75% of all mutant alleles were confined within only two haplotypes, namely haplotype 9 (17.1%) and haplotype 1 (56.1%). This frequency of mutant haplotype 1 in Portugal is, to our knowledge, the highest for this mutant haplotype in all studies reported to date. Other mutant haplotypes were either rare (haplotype 2, 9.7%) or totally absent (haplotype 3, 0%). Only 24.5% of all mutant alleles were found to consistently carry identified mutations, particularly R261Q (9.8%), R252W (3.3%), R408W (1.6%) and delta I94 (3.3%). A new mutation, L249F, located in the seventh exon of the gene, accounted for 6.5% of all mutant alleles in our series. Interestingly, this mutant genotype was consistently associated with mutant haplotype 1 (P less than 0.01), as also observed for the R261Q mutation. It appears, therefore, that mutant haplotype 1 is genotypically heterogeneous in Portugal and that more than two mutations account for its prevalence in this country.