Prenatal diagnosis of fetal multiple hemivertebrae: the importance of 3D ultrasound assessment.

We herein present a case of fetal multiple hemivertebrae detected at antenatal sonography. The use of the 3 D technology supported by a new contrast enhancement rendering algorithm (Crystal Vue) has allowed the accurate prenatal classification of the defect, confirmed at follow up, that would have been difficult to define by 2 D only.

Assessment of the nitrofen model of congenital diaphragmatic hernia and of the dysregulated factors involved in pulmonary hypoplasia.

PURPOSE: To study pulmonary hypoplasia (PH) associated with congenital diaphragmatic hernia (CDH), investigators have been employing a fetal rat model based on nitrofen administration to dams. Herein, we aimed to: (1) investigate the validity of the model, and (2) synthesize the main biological pathways implicated in the development of PH associated with CDH. METHODS: Using a defined strategy, we conducted a systematic review of the literature searching for studies reporting the incidence of CDH or factors involved in PH development. We also searched for PH factor interactions, relevance to lung development and to human PH. RESULTS: Of 335 full-text articles, 116 reported the incidence of CDH after nitrofen exposure or dysregulated factors in the lungs of nitrofen-exposed rat fetuses. CDH incidence: 54% (27-85%) fetuses developed a diaphragmatic defect, whereas the whole litter had PH in varying degrees. Downregulated signaling pathways included FGF/FGFR, BMP/BMPR, Sonic Hedgehog and retinoid acid signaling pathway, resulting in a delay in early epithelial differentiation, immature distal epithelium and dysfunctional mesenchyme. CONCLUSIONS: The nitrofen model effectively reproduces PH as it disrupts pathways that are critical for lung branching morphogenesis and alveolar differentiation. The low CDH rate confirms that PH is an associated phenomenon rather than the result of mechanical compression alone.

[The pathology of the peritoneo-vaginal process in the young males: clinical and therapeutical aspects in 160 cases]. / La pathologie du canal péritonéo-vaginal chez le garçon: aspects cliniques et thérapeutiques à propos de 160 cas.

The objective of this work was to describe the clinical and therapeutical aspects of pathology of the peritoneo-vaginal process. We have performed a retrospective study including 160 patients operated between January 1990 up to December 1996. Mean age at diagnosis was 8 years, ranged from 1 month to 13 years old. All patients were male. The abnormality was located in the right side in 60% of cases and was bilateral in 6.7% of cases. The main clinical features were scrotal mass (81%) and scrotal pain (13.46%). The diagnosis was made at birth only in 20% of cases. A maldescended testis was associated in 7.5% of cases. A groin incision have been used in 91.25% of patients. The average hospital stay after surgery was 1 day. Thus, the pathology of the peritoneo-vaginal process is common and apparently banal. Need for treatment through a groin incision owing to the possibility of associated maldescended testis.

Fetal disruptions: assessment of frequency, heterogeneity, and embryologic mechanisms in a population referred to a community-based stillbirth assessment program.

The Wisconsin Stillbirth Service Project (WiSSP) is a community-based program for the investigation of the cause of fetal death. From its inception in 1983 through July 1988, 629 referrals were made to WiSSP. All referrals were assessed for the presence of disruptional characteristics, and 23 were found to have major or primary disruptive effects. Most of these were either early amnion disruption/limb-body wall disruption (treated as a single group, since analysis suggests a continuum of clinical characteristics) and twin-twin disruptions. Therefore, disruptions accounted for 3.6% of all referrals (including liveborn and miscarriage referrals) to WiSSP. When only stillborn fetuses are considered, approximately 2.4% appear to have died because of disruptions. This makes disruptions one of the most frequent, identifiable causes of late intrauterine death. We estimate that 0.6-1.4% of all stillborn fetuses die because of early amnion disruption/limb-body wall disruption which, when taken with previous estimates of the frequency of such problems in early miscarriages and liveborn infants, suggests that these disruptions result in a 95% prenatal mortality rate. We suggest a unified model of likely pathogenetic mechanisms which may help explain the continuum of multisystem involvement seen in those with early amnion disruption/limb body wall disruption. In addition, 3 patients with atypical disruptions are reviewed who exemplify the difficulty and importance of differentiating disruptional and malformational processes.

[Aplasia cutis congenita. Report of 2 cases]. / Aplasia cutis congénita. Relato de dos casos.

In 1983, we had two cases of pediatric patients, which were observed in the Regional Hospital "Victor Lazarte Echegaray" of the Peruvian Institute of Social Security in Trujillo, these cases correspond to the syndrome of aplasia cutis congenita. In the first case, the defect was localized as a of ulcer in the right inferior member, which was affected from the third part distal of the thigh to the back part of the foot. In the second one, the lesion was in the middle line of the hairy skin, and it had the particularity of being associate to others congenital malformations. These cases are mentioned because of their rarity of presentation at a world level as well as their unknown occurrence in our country. Then we comment the clinic, histological characteristics, associate congenital defects, possible etiopathogenic mechanisms, differential diagnostic and its evolution and treatment.