Ebstein's anomaly with imperforate tricuspid valve. Prenatal diagnosis

Ebstein's anomaly is an uncommon congenital heart defect, with a prevalence of 0.3-0.5%. Its association with an imperforate tricuspid valve is an even more rare situation (less than 10% of cases). Prenatal diagnosis of this association by means of fetal echocardiography has not been reported. We describe here this association diagnosed before birth and confirmed after birth. The diagnostic potential and importance of fetal echocardiography during prenatal evaluation of cardiac malformations allows for adequate perinatal planning and management, with an obvious impact on morbidity and mortality.

Atrioventricular septal defect with coexisting tricuspid atresia

We describe two infants having an atrioventricular septal defect in the setting of a double inlet atrioventricular connection, but with patency of the left-sided valvar orifice and an imperforate right-sided valvar component, and a further case with atrioventricular septal defect and an imperforate Ebstein`s malformation, all producing the haemodynamic effect of tricuspid atresia. We make comparisons with the arrangement in trisomy 16 mice, in whom deficient atrioventricular septation is seen at times with the common atrioventricular junction exclusively connected to the left ventricle, a situation similar to that seen in two of our infants. We also review previous reports emphasising the important theoretical implication of the findings despite their rarity.

Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe.

The prevalence of anal anomalies among 4,618,840 births recorded in 33 EUROCAT registries between 1980 and 1994 was 4.05 per 10,000 births. Of the 1,846 recorded cases, 672 (36.4%) were isolated anal anomalies while 1,174 (63.6%) occurred together with other anomalies. Only isolated anal anomalies were analyzed in this study: 75.5% were atresias, 10.1% of which were above and 89.9% were below the level of the levator ani muscle. Fistula occurred in 53% of supralevator and 37% of infralevator atresia. Other anal anomalies were ectopic anus (3.4%), congenital anal fistula (14.7%), and persistent cloaca (0.9%). There was a predominance of males in anal atresia without fistula (male to female (M:F) ratio was 6.7 for supralevator and 2.3 for infralevator atresia), but no significant sex difference in atresias with fistula. There was a predominance of females in ectopic anus and congenital anal fistula (M:F = 0.11 and 0.36 respectively). High frequencies of fetal deaths were recorded in supralevator atresia without fistula (8.3%) and in persistent cloaca (11.1%). Mean gestational length and mean birth weights were reduced for persistent cloaca but were within normal limits for other isolated anal anomalies. Odds ratios (ORs) for mothers above 35 years were increased for supralevator atresia without fistula, supralevator atresia with fistula, and congenital anal fistula. ORs for mothers below 30 years were slightly increased for supralevator atresia without fistula and decreased for persistent cloaca. There were marked differences in prevalence and distribution of anal anomalies among the EUROCAT registries. The results indicated that there are epidemiological differences among the various types of anal anomalies which might reflect different embryological origins.

Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?

We report a male with imperforate anus, pedunculated triphalangeal thumbs, hemifacial microsomia, microtia, preauricular tags and cardiac anomalies. This is the first individual with Townes-Brocks syndrome to have hydrocephalus.

Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?

We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed. © 2003 Wiley-Liss, Inc.

Rectovaginal fistula with anal atresia in 5 dogs

Five dogs with rectovaginal fistula and atresia ani that had been treated by surgical correction of the malformations were studied retrospectively. Ages at presentation varied from 1 to 3 months and weight from 350 g to 7.5 kg. The histories included voiding of feces through the vulva, with or without tenesmus, usually observed after weaning. Artesia ani, presence of feces in the vaginal canal, abdominal distention, and discomfort on abdominal palpation were observed during clinical examination. Also, 3 dogs had partial tail agenesis. In all dogs, the rectovaginal fistula was isolated and transected, the vulvar and rectal defects were closed separately, and the atresia ani was repaired. Normal defecation was restored, but 1 dog had fecal incontinence that subsequently resolved. One dog died 2.5 months postoperatively, and follow-up was done on the others for periods ranging from 1.6 year to 7.7 years. Surgical correction in dogs with rectovaginal fistula and atresia ani may result in a favorable outcome, if it is done early.

Hematometra presenting as an acute abdomen in a 13-year-old postmenarchal girl: a case report

Introduction Most underlying diseases for abdominal pain in children are not dangerous. However some require rapid diagnosis and treatment, such as acute ovarian torsion or appendicitis. Since reaching a diagnosis can be difficult, and delayed treatment of potentially dangerous diseases might have significant consequences, exploratory laparoscopy is a diagnostic and therapeutic option for patients who have unclear and potentially hazardous abdominal diseases. Here we describe a case where the anomaly could not be identified using a laparoscopy in an adolescent girl with acute abdomen. Case presentation A 13-year old postmenarchal caucasian female presented with an acute abdomen. Emergency sonography could not exclude ovarian torsion. Accurate diagnosis and treatment were achieved only after an initial laparoscopy followed by a laparotomy and after a magnetic resonance imaging scan a further laparotomy. The underlying disease was hematometra of the right uterine horn in a uterus didelphys in conjunction with an imperforate right cervix. Conclusion This report demonstrates that the usual approach for patients with acute abdominal pain may not be sufficient in emergency situations.

Composition of the sand fraction of sediment cores from the West-African continental margin

Seven cores from the West African continental margin in 12-18° N have been investigated by means of a coarse fraction analysis. Four of the seven cores contain allochthonous material: turbidites and debris flow deposits. The source of the allochthonous material is in about 300-600 m water depth. The age of the slide induced debris flow deposits is at the end of oxygen isotope stage 2. One debris flow deposit is covered by a turbidite (core GIK13211-1). The turbidites in the deep-sea core GIK13207-3 originate from river-influenced sediments from the West-African continental margin, whereas the autochthonous sequences are influenced by volcanic material from the Cape Verde Islands. Particle by particle supply from upper slope areas has been found in all four cores from the continental slope. Current sorting occurs on the submarine diapir (core GIK13289-3), whereas core GIK13291-1 on the NW-flanc, 200 m below core GIK13289-3, has no current sorting, except for stage 1 and parts of stage 5. The current sorting is reflected by parallel variations of median diameters of whole tests and of fragments of planktonic foraminifers, by higher median diameters of foraminifers on top of the diapir, by reduced accumulation rates and increased sand fraction percentages in core GIK13289-3 compared to core GIK13291-1. The Late Quarternary climatic history of the West-African near coastal area (12-18° N) has been redrawn: - in oxygen isotope stage 1 a humid climate is found in 12-18° N (This "humid impression" in 18° N, which is actually an arid area, is due to the poleward directed undercurrent, which transports Senegal river material to the north). - in oxygen isotope stage 2 an arid climate existed in 14-18° N, whereas in 12° N river discharfe persisted. But within stage 2 dune formation occured in 12° N on the (dry) shelf, additionally to fluviatile sediment input. - Older periods are preserved in autochthonous sediments of core GIK13289-3 and GIK13291-1, where oxygen stage 3,5 and 7 (the latter only in core GIK13289-3 present) show a humid climate (as well as in stage 5 of core GIK13255-3), interrupted by short arid intervals in core GIK12389-3, and stage 4 and 6 show an arid climate, interrupted by short humid periods The allochthonous stage 5 sediment in core GIK13211-1 also reflects a humid climate. The dissolution of planktonic foraminifers is strongest in th eLate Holocene and shows a minimum in the early Holocene, where also pteropods are preserved. The degree of carbonate dissolution is related mainly to the fine matter content (< 63 µm) whereas water depth is a less decisvive factor.

MMTV-trBrca 1 mice display strain-dependent abnormalities in vaginal development

The breast cancer susceptibility gene Brca1 encodes a large multi-functional protein which is implicated as a caretaker of the genome, through its role in regulation of DNA damage response pathways, including apoptosis. Here we show that in mice expressing a dominant-negative Brca1 transgene on a BALB/c background, vaginal entrance remodeling is inhibited, and that the incidence of this phenotype is increased on a p53 +/- genotype. Given that this developmental process is mediated primarily by apoptosis, we hypothesized that disruption of BRCA1 may confer a resistance to apoptosis in normal epithelial cells. Consistent with this, we show that expression of this transgene in vitro leads to resistance to ionizing radiation induced cell killing in mammary epithelial cells. This is the first time that BRCA1 has been implicated in an apoptosis-mediated normal developmental process.