Spontaneous pneumomediastinum in two young women.

SUMMARY: Spontaneous pneumomediastinum (SPM) is a rare benign condition which must be differentiated from secondary pneumomediastinum due to chest trauma, abscess formation or Boerhaave's syndrome. We present two young women with SPM due to chronic self-induced vomiting and starvation associated with psychosis and pregnancy-associated vomiting respectively. This report highlights the exclusionary diagnostic pathway, the principles of conservative management and the need for a tailored multidisciplinary approach to enhance patient recovery and prevent future recurrence.

Three-dimensional evaluation of mid-facial hypoplasia in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation.

OBJECTIVE: To investigate the mid-facial hypoplasia of fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation, by three-dimensional (3D) evaluation of the maxilla and the nasal bones. METHODS: A 3D volume of the fetal head was obtained before fetal karyotyping at 11 + 0 to 13 + 6 (median 12) weeks of gestation in 80 fetuses that were subsequently found to have trisomy 21 and in 862 fetuses subsequently found to be chromosomally normal. The multiplanar mode was used to obtain a sequence of transverse views of the fetal face and to demonstrate the maxilla, the adjacent rami of the mandible and the nasal bones. The maxillary depth, defined as the distance between the alveolus of the maxilla in the midline anteriorly and the midpoint of the line joining the rami posteriorly, was measured. Ossification of the nasal bones was considered to be normal if both bones were more echogenic than the overlying skin. RESULTS: In the chromosomally normal group the maxillary depth increased linearly with crown-rump length (CRL) from 3.1 mm at a CRL of 45 mm to 4.8 mm at a CRL of 84 mm, and in the trisomy 21 fetuses the depth was significantly smaller than normal (mean difference = - 0.3 mm, P < 0.001). There was no significant association between the delta maxillary depth and delta nuchal translucency thickness in either the trisomy 21 or the chromosomally normal fetuses. Impaired ossification of the nasal bones was observed in 3.1% of the chromosomally normal fetuses and in 60.0% of those with trisomy 21. The mean maxillary depth was significantly smaller in fetuses demonstrating impaired ossification than in those with normal ossification of the nasal bones (mean difference = -0.2 mm; 95% CI, -0.3 to -0.1, P = 0.001). CONCLUSIONS: In a high proportion of fetuses with trisomy 21 there is sonographic evidence of mid-facial hypoplasia at 11 + 0 to 13 + 6 weeks of gestation.

Metopic suture in fetuses with Apert syndrome at 22-27 weeks of gestation.

OBJECTIVES: To examine the possible association of skull deformity and the development of the cranial sutures in fetuses with Apert syndrome. METHODS: Three-dimensional (3D) ultrasound was used to examine the metopic and coronal sutures in seven fetuses with Apert syndrome at 22-27 weeks of gestation. The gap between the frontal bones in the transverse plane of the head at the level of the cavum septi pellucidi was measured and compared to findings in 120 anatomically normal fetuses undergoing routine ultrasound examination at 16-32 weeks. RESULTS: In the normal group, the gap between the frontal bones in the metopic suture at the level of the cavum septi pellucidi, decreased significantly with gestation from a mean of 2.2 mm (5th and 95th centiles: 1.5 mm and 2.9 mm) at 16 weeks to 0.9 mm (5th and 95th centiles: 0.3 mm and 1.6 mm) at 32 weeks. In the seven cases with Apert syndrome, two-dimensional ultrasound examination demonstrated the characteristic features of frontal bossing, depressed nasal bridge and bilateral syndactyly. On 3D examination there was complete closure of the coronal suture and a wide gap in the metopic suture (15-23 mm). CONCLUSION: In normal fetuses, cranial bones are believed to grow in response to the centrifugal pressure from the expanding brain and proximity of the dura to the suture is critical in maintaining its patency. In Apert syndrome, the frontal bossing may be a mere consequence of a genetically predetermined premature closure of the coronal suture. Alternatively, there is a genetically predetermined deformation of the brain, which in turn, through differential stretch of the dura in the temporal and frontal regions, causes premature closure of the coronal suture and impaired closure of the metopic suture.

Placental volume measured by three-dimensional ultrasound at 11 to 13 + 6 weeks of gestation: relation to chromosomal defects.

OBJECTIVE: To determine the potential value of measuring the placental volume at 11 to 13 + 6 weeks of gestation in screening for chromosomal defects. METHODS: The placental volume was measured using three-dimensional ultrasound in 500 consecutive singleton pregnancies immediately before chorionic villus sampling for fetal karyotyping at 11 to 13 + 6 (median, 12) weeks of gestation. RESULTS: The fetal karyotype was normal in 417 pregnancies and abnormal in 83. In the chromosomally normal group the mean placental volume increased significantly with gestation from a mean of 51 mL (5th and 95th centiles: 31.2 and 82.4 mL) at 11 weeks to 91 mL (5th and 95th centiles: 55.7 and 147.2 mL) at 13 + 6 weeks. In the chromosomally abnormal group the mean placental volume for gestational age was not significantly different from normal in trisomy 21 and Turner syndrome, but it was smaller in trisomies 13 and 18. CONCLUSIONS: The measurement of the placental volume at 11 to 13 + 6 weeks of gestation is unlikely to be a useful predictor of the major chromosomal defects. In trisomies 13 and 18 the small placental volume may be due to early-onset fetal growth restriction, which could be the consequence of impaired placental function.

Assessment of the gap between the fetal nasal bones at 11 to 13 + 6 weeks of gestation by three-dimensional ultrasound.

OBJECTIVE: To detect the presence of a gap between the fetal nasal bones at 11 to 13 + 6 weeks of gestation and to verify if this gap could lead to the erroneous diagnosis of absent nasal bone. METHODS: Three-dimensional (3D) ultrasound was used to assess the fetal nose in 450 singleton pregnancies, immediately after two-dimensional (2D) evaluation of the nasal bones and screening for chromosomal defects by a combination of maternal age and the measurement of fetal nuchal translucency at 11 to 13 + 6 (median, 12) weeks of gestation. A 3D volume of the fetal face was acquired and then analyzed using the multiplanar mode. A sequence of transverse views was used to confirm the presence or absence of the nasal bones and when they were present any visible gap between them was measured. A perfectly mid-sagittal plane was then examined to determine if the nasal bone was visible or not. RESULTS: In 421/450 (93.6%) cases the nasal bone was present during 2D ultrasound. Using the multiplanar mode of 3D ultrasound, in 83/421 (19.7%) fetuses a gap between the nasal bones could be demonstrated and in 36/83 (43.4%) cases the nasal bone was found to be absent in the perfect mid-sagittal view. In 29/450 (6.4%) cases the nasal bones were absent during the 2D scan. In the 3D assessment there was absence of both bones in 25/29 (86.2%) cases and absence of one of the two bones in 4/29 (13.8%) cases. Chorionic villus sampling demonstrated that the fetal karyotype was normal in 404 and abnormal in 46 cases, including 31 cases of trisomy 21. There was absence of one or both nasal bones in three (0.7%) of the chromosomally normal fetuses, in 19 (61.3%) with trisomy 21 and in seven (46.7%) with other chromosomal defects. CONCLUSIONS: At 11 to 13 + 6 weeks of gestation there is a gap between the nasal bones in about 20% of fetuses, and in about 40% of these cases in the perfect mid-sagittal plane the nasal bone may erroneously be considered to be absent.

Two African swine fever virus proteins derived from a common precursor exhibit different nucleocytoplasmic transport activities.

African swine fever virus (ASFV), a large icosahedral deoxyvirus, is the causative agent of an economically relevant hemorrhagic disease that affects domestic pigs. The major purpose of the present study was to investigate the nuclear transport activities of the ASFV p37 and p14 proteins, which result from the proteolytic processing of a common precursor. Experiments were performed by using yeast-based nucleocytoplasmic transport assays and by analysis of the subcellular localization of different green fluorescent and Myc fusion proteins in mammalian cells. The results obtained both in yeast and mammalian cells clearly demonstrated that ASFV p14 protein is imported into the nucleus but not exported to the cytoplasm. The ability of p37 protein to be exported from the nucleus to the cytoplasm of both yeast and mammalian cells was also demonstrated, and the results clearly indicate that p37 nuclear export is dependent on the interaction of the protein with the CRM-1 receptor. In addition, p37 was shown to exhibit nuclear import activity in mammalian cells. The p37 protein nuclear import and export abilities described here constitute the first report of a nucleocytoplasmic shuttling protein encoded by the ASFV genome. Overall, the overlapping results obtained for green fluorescent protein fusions and Myc-tagged proteins undoubtedly demonstrate that ASFV p37 and p14 proteins exhibit nucleocytoplasmic transport activities. These findings are significant for understanding the role these proteins play in the replication cycle of ASFV.