V. Segers

Acceptance, reliability and confidence of diagnosis of fetal and neonatal virtuopsy compared with conventional autopsy: A prospective study

To compare prospectively maternal acceptance of fetal and neonatal virtuopsy with that of conventional autopsy and to determine the confidence with which magnetic resonance (MR) virtuopsy can be used to diagnose normality/abnormality of various fetal anatomical structures.

Parental acceptance of minimally invasive fetal and neonatal autopsy compared with conventional autopsy

To determine parental acceptance of minimally invasive autopsy (MIA) involving postmortem imaging and organ tissue sampling compared with conventional autopsy and to compare the acceptability of percutaneous versus laparoscopic‐guided biopsy.

Virtual autopsy by computed tomographic angiography of the fetal heart: a feasibility study

To determine the feasibility of postmortem computed tomographic (pm‐CT) angiography for fetal heart evaluation.

Severe Gastritis in an Insulin-dependent Child With an IPEX Syndrome

Gastric mucosal atrophy is a rare finding in children and it is seldom seen even in association with Helicobacter pylori infection (1). Atrophic gastritis predisposing to gastric tumours is observed in 20% of patients with autoimmune type 1 insulin-dependent diabetes mellitus (IDDM) patients with parietal cell antibodies (2). Evidence for type 1 diabetes being an autoimmune process is based on the presence of ‘‘diabetes autoantibodies’’ (3). The role of CD4þCD25þ regulatory T cells in protecting against a variety of autoimmune diseases is admitted (4). Autoimmune gastritis is a disease caused by a CD4þT cell response to the gastric Hþ/Kþ-ATPase encoded by Atp4a and Atp4b Hþ/Kþ-ATPase. In recent experimental work on mice, it is proposed that prevention of autoimmune gastritis requires extrathymic T cell deletion and suppression by regulatory T cells (5). We report the case of a boy with early IDDM who developed an extensive exfoliative gastritis progressing toward mucosal atrophy with intestinal and malpighian metaplasia. An attenuated form of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) was eventually confirmed by FoxP3 mutation.

Antenatal ultrasound prediction of pulmonary hypoplasia in congenital diaphragmatic hernia: Correlation with pathology

To examine the relationship between observed to expected (o/e) lung to head circumference ratio (LHR) and lung‐to‐body weight ratio (LBWR) in fetuses with congenital diaphragmatic hernia (CDH).

Neuronal localization in the rat brain of the messenger RNA encoding calcyphosine, a new calcium-binding protein.

The cDNA encoding calcyphosine, a new calcium-binding protein of the calmodulin superfamily which is regulated by cAMP, has been cloned in the dog thyroid (EMBO J., 8 (1989) 111-116). By in situ hybridization with synthetic oligonucleotides, we here demonstrate for the first time its neuronal localization in the rat brain. Hybridization signal was detected in all the olfactory areas; in pyramidal and non pyramidal-shaped neurons in the different layers of the cerebral cortex, especially the superficial ones; in the pyramidal cells of the different sectors of the Ammons horn and in the granule cells of the dentate gyrus of the hippocampus; in the subiculum; in the medium-sized and large neurons of the different quadrants of the caudate-putamen and accumbens and in the cerebellar Purkinje cells. Hybridization was also observed to a lesser extent in the majority of the neurons in the basal areas of the forebrain, including septum, nucleus of the diagonal band and amygdala; in the globus pallidus, entopeduncular nucleus, substantia nigra pars reticulata and compacta, ventral tegmental area; in the subthalamic nucleus; in the thalamus; in the hypothalamus; in the brainstem and in the upper cervical spinal cord. In addition to its neuronal localization, calcyphosine mRNA was also found in ependymal cells. The non-detection of positive cells in the white matter was not in favor of prominent glial localization, although it does not exclude it.

Minimally invasive fetal autopsy using three-dimensional ultrasound: a feasibility study.

To evaluate postmortem ultrasound (PM‐US) for minimally invasive autopsy, and to demonstrate its feasibility, sensitivity and specificity, as compared with conventional autopsy, in detecting major congenital abnormalities.

Diagnostic value of rectal suction biopsies using calretinin immunohistochemical staining in Hirschsprung's disease

BACKGROUND The study investigates the diagnostic value of calretinin immunohistochemical staining (CIS) on rectal suction biopsies (RSB) in Hirschsprungs disease (HD). METHODS A prospective study was conducted at Childrens Hospital 2 in Ho Chi Minh City, Vietnam, from January through December 2015. Patients suspected of HD during this period underwent RSB and were followed in order to assess the accuracy of the diagnostic test with CIS compared with conventional histology (H&E). RESULTS A total of 188 children with RSB were investigated. Median age was 7.1 (range 0.2-159) months with 65.4% boys. HD was confirmed in 80 (42.6%) children. There were 1 false positive and no false-negative cases. The sensitivity and specificity were 100% (80/80) and 99.1% (107/108) for CIS and 100% and 85.2% for H&E, respectively. Cohens kappa coefficient was 0.9891 with a diagnostic accuracy of 99.5% for CIS, compared with 0.8303 and 91.5% for H&E, respectively. There were no serious complications related to the RSB. CONCLUSION RSB with CIS is a useful diagnostic method for HD, with easy interpretation and no need for cryostat. CIS has a high diagnostic accuracy and should be considered as the primary method for the diagnosis of HD by RSB. LEVEL OF EVIDENCE Diagnostic Studies - Level I.

Increased TGF-β: a drawback of tracheal occlusion in human and experimental congenital diaphragmatic hernia?

Survivors of severe congenital diaphragmatic hernia (CDH) present significant respiratory morbidity despite lung growth induced by fetal tracheal occlusion (TO). We hypothesized that the underlying mechanisms would involve changes in lung extracellular matrix and dysregulated transforming growth factor (TGF)-β pathway, a key player in lung development and repair. Pulmonary expression of TGF-β signaling components, downstream effectors, and extracellular matrix targets were evaluated in CDH neonates who died between birth and the first few weeks of life after prenatal conservative management or TO, and in rabbit pups that were prenatally randomized for surgical CDH and TO vs. sham operation. Before tissue harvesting, lung tissue mechanics in rabbits was measured using the constant-phase model during the first 30 min of life. Human CDH and control fetal lungs were also collected from midterm onwards. Human and experimental CDH did not affect TGF-β/Smad2/3 expression and activity. In human and rabbit CDH lungs, TO upregulated TGF-β transcripts. Analysis of downstream pathways indicated increased Rho-associated kinases to the detriment of Smad2/3 activation. After TO, subtle accumulation of collagen and α-smooth muscle actin within alveolar walls was detected in rabbit pups and human CDH lungs with short-term mechanical ventilation. Despite TO-induced lung growth, mediocre lung tissue mechanics in the rabbit model was associated with increased transcription of extracellular matrix components. These results suggest that prenatal TO increases TGF-β/Rho kinase pathway, myofibroblast differentiation, and matrix deposition in neonatal rabbit and human CDH lungs. Whether this might influence postnatal development of sustainably ventilated lungs remains to be determined.

Post-mortem high-field magnetic resonance imaging: Effect or various factors

Abstract Purpose: To evaluate image quality and diagnostic accuracy of high-field post-mortem (PM) magnetic resonance imaging (MRI) on fetuses below 20 weeks of gestation before and after the freeze-thaw process. Materials and methods: Nine fetuses were scanned with three different scanning procedures: “fresh”, just after termination of pregnancy (TOP), “non-fresh short scan” and “non-fresh long scan” after being kept at −20 °C, followed by a conventional autopsy. The brain, thorax except the heart, heart and abdomen were studied. The qualities of the images for the four different fetal regions and for the three different scanning procedures were reported. Regression analysis was used to investigate the effect on image quality of different factors. Additionally, the diagnostic accuracy was also evaluated. Results: Fetuses at 12.0–19.6 weeks were included. Regression analysis showed that better image quality was correlated to advanced gestation at TOP and scan on fresh fetuses. PM-MRI on fresh fetuses was always diagnostic for the brain and in more than half of cases on non-fresh fetuses and was nearly equally diagnostic for thoracic and abdominal structures. Conclusion: High-field PM-MRI seems to offer a quite reliable alternative to the parents declining conventional PM for fetuses before 20 weeks whether these fetuses are freshly scanned or after being frozen.