Prenatal ultrasonographic detection of gastrointestinal obstruction: results from 18 European congenital anomaly registries.

OBJECTIVES: We evaluated the prenatal detection of gastrointestinal obstruction (GIO, including atresia, stenosis, absence or fistula) by routine ultrasonographic examination in an unselected population all over Europe. METHODS: Data from 18 congenital malformation registries in 11 European countries were analysed. These multisource registries used the same methodology. All fetuses/neonates with GIO confirmed within 1 week after birth who had prenatal sonography and were born during the study period (1 July 1996 to 31 December 1998) were included. RESULTS: There were 670 793 births in the area covered and 349 fetuses/neonates had GIO. The prenatal detection rate of GIO was 34%; of these 40% were detected < or = 24 weeks of gestation (WG). A total of 31% (60/192) of the isolated GIO were detected prenatally, as were 38% (59/157) of the associated GIO (p=0.26). The detection rate was 25% for esophageal obstruction (31/122), 52% for duodenal obstruction (33/64), 40% for small intestine obstruction (27/68) and 29% for large intestine obstruction (28/95) (p=0.002). The detection rate was higher in countries with a policy of routine obstetric ultrasound. Fifteen percent of pregnancies were terminated (51/349). Eleven of these had chromosomal anomalies, 31 multiple malformations, eight non-chromosomal recognized syndromes, and one isolated GIO. The participating registries reflect the various national policies for termination of pregnancy (TOP), but TOPs after 24 WG (11/51) do not appear to be performed more frequently in countries with a liberal TOP policy. CONCLUSION: This European study shows that the detection rate of GIO depends on the screening policy and on the sonographic detectability of GIO subgroups.

Intracerebellar hemorrhage caused by developmental venous anomaly, from diagnosis to treatment.

BACKGROUND: Developmental venous anomaly (DVA) is considered a benign and asymptomatic cerebrovascular malformation, and only isolated cases of symptomatic DVAs are described in the literature. Even more rarely will these symptoms come from an intraparenchymal hemorrhage caused by the DVA. METHODS AND RESULTS: We present two symptomatic DVAs by intracerebellar hemorrhage. CONCLUSION: The diagnostic steps regarding the pathophysiology of DVA hemorrhage and the treatment options are discussed.

Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system, and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder. © 2013 Wiley Periodicals, Inc.

Dual-wavelength digital holographic microscopy with sub-nanometer axial accuracy

We present dual-wavelength Digital Holographic Microscopy (DHM) measurements on a certified 8.9 nm high Chromium thin step sample and demonstrate sub-nanometer axial accuracy. We introduce a modified DHM Reference Calibrated Hologram (RCH) reconstruction algorithm taking into account amplitude contributions. By combining this with a temporal averaging procedure and a specific dual-wavelength DHM arrangement, it is shown that specimen topography can be measured with an accuracy, defined as the axial standard deviation, reduced to at least 0.9 nm. Indeed, it is reported that averaging each of the two wavefronts recorded with real-time dual-wavelength DHM can provide up to 30% spatial noise reduction for the given configuration, thanks to their non-correlated nature. ©2008 COPYRIGHT SPIE

Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.

Genomic rearrangements at chromosome 13q31.3q32.1 have been associated with digital anomalies, dysmorphic features, and variable degree of mental disability. Microdeletions leading to haploinsufficiency of miR17∼92, a cluster of micro RNA genes closely linked to GPC5 in both mouse and human genomes, has recently been associated with digital anomalies in the Feingold like syndrome. Here, we report on a boy with familial dominant post-axial polydactyly (PAP) type A, overgrowth, significant facial dysmorphisms and autistic traits who carries the smallest germline microduplication known so far in that region. The microduplication encompasses the whole miR17∼92 cluster and the first 5 exons of GPC5. This report supports the newly recognized role of miR17∼92 gene dosage in digital developmental anomalies, and suggests a possible role of GPC5 in growth regulation and in cognitive development.

Bilateral anomaly in the style of Micropygomyia schreiberi (Martins, Falcão & Silva) (Diptera, Psychodidae)

This paper presents a specimen of phlebotomine sand fly with a bilateral anomaly in the style. Although such anomaly be rare in this group of insects, it may cause confusion in taxonomic identification and even lead to description of new species, increasing the number of synonymies. The specimen was measured and compared with the holotype and four paratypes of Micropygomyia schreiberi (Martins, Falcão & Silva, 1975) and confirmed that it belongs, in fact, to this species.

Direct MR arthrography of the shoulder under axial traction: Feasibility study to evaluate the superior labrum-biceps tendon complex and articular cartilage.

PURPOSE: To assess the value of adding axial traction to direct MR arthrography of the shoulder, in terms of subacromial and glenohumeral joint space widths, and coverage of the superior labrum-biceps tendon complex and articular cartilage by contrast material. MATERIALS AND METHODS: Twenty-one patients investigated by direct MR arthrography of the shoulder were prospectively included. Studies were performed with a 3 Tesla (T) unit and included a three-dimensional isotropic fat-suppressed T1-weighted gradient-recalled echo sequence, without and with axial traction (4 kg). Two radiologists independently measured the width of the subacromial, superior, and inferior glenohumeral joint spaces. They subsequently rated the amount of contrast material around the superior labrum-biceps tendon complex and between glenohumeral cartilage surfaces, using a three-point scale: 0 = no, 1 = partial, 2 = full. RESULTS: Under traction, the subacromial (Δ = 2.0 mm, P = 0.0003), superior (Δ = 0.7 mm, P = 0.0001) and inferior (Δ = 1.4 mm, P = 0.0006) glenohumeral joint space widths were all significantly increased, and both readers noted significantly more contrast material around the superior labrum-biceps tendon complex (P = 0.014), and between the superior (P = 0.001) and inferior (P = 0.025) glenohumeral cartilage surfaces. CONCLUSION: Direct MR arthrography of the shoulder under axial traction increases subacromial and glenohumeral joint space widths, and prompts better coverage of the superior labrum-biceps tendon complex and articular cartilage by contrast material. J. Magn. Reson. Imaging 2013;37:1228-1233. © 2012 Wiley Periodicals, Inc.

Autosomal Recessive Posterior Microphthalmos/Nanophthalmos is Caused by Loss-of-function Mutations in LOC646960, a Novel Gene Encoding a Trypsin-like Serine Protease

Purpose: Posterior microphthalmos (MCOP)/nanophthalmos (NNO) is a developmental anomaly characterized by extreme hyperopia due to short axial length. The population of the Faroe Islands shows a high prevalence of an autosomal recessive form (arMCOP). The gene mutated in arMCOP is not yet known.Methods: Genetic mapping by linkage analysis using microsatellite and single nucleotide polymorphisms, mutation analysis by PCR and sequencing, molecular modellingResults: Having refined the position of the disease locus (MCOP6) in an interval of 250 kb in chromosome 2q37.1 in Faroese families, we detected 3 mutations in a novel gene, LOC646960: Patients of 10 different Faroese families were either homozygous (n=22) for c.926G>C (p.Trp309Ser) or compound heterozygous (n=6) for c.926G>C and c.526C>G (p.Arg176Gly), whereas a homozygous 1 bp duplication (c.1066dupC) was identified in patients with arNNO from a Tunisian family. In two unrelated patients with MCOP, no LOC646960 mutation was found. LOC646960 is expressed in the human adult retina and RPE. The expression of the mouse homologue in the eye can be first detected at E17 and is highest in adults. The predicted protein is a 603 amino acid long secreted trypsin-like serine peptidase. c.1066dupC should result in a functional null allele. Molecular modelling of the p.Trp309Ser mutant suggests that both affinity and reactivity of the enzyme towards in vivo substrates are substantially reduced.Conclusions: Postnatal growth of the eye is important for proper development of the refractive components (emmetropization), and is mainly due to elongation of the posterior segment from 10-11 mm at birth to 15-16 mm at the age of 13 years. Optical defocus leads to changes in axial length by moving the retina towards the image plane. arMCOP may theoretically be explained, in line with the expression pattern of LOC646960, by a postnatal growth retardation of the posterior segment.

Direct magnetic resonance arthrography of the knee: utility of axial traction.

The purpose of this study was to determine the impact of axial traction during acquisition of direct magnetic resonance (MR) arthrography examination of the knee in terms of joint space width and amount of contrast material between the cartilage surfaces. Direct knee MR arthrography was performed in 11 patients on a 3-T MR imaging unit using a T1-weighted isotropic gradient echo sequence in a coronal plane with and without axial traction of 15 kg. Joint space widths were measured at the level of the medial and the lateral femorotibial joint with and without traction. The amount of contrast material in the medial and lateral femorotibial joint was assessed independently by two musculoskeletal radiologists in a semiquantitative manner using three grades ('absence of surface visualization, 'partial surface visualization or 'complete surface visualization'). With traction, joint space width increased significantly at the lateral femorotibial compartment (mean = 0.55 mm, p = 0.0105) and at the medial femorotibial compartment (mean = 0.4 mm, p = 0.0124). There was a trend towards an increased amount of contrast material in the femorotibial compartment with axial traction. Direct MR arthrography of the knee with axial traction showed a slight and significant increase of the width of the femorotibial compartment with a trend towards more contrast material between the articular cartilage surfaces.

Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry-based study in 14 European countries 1984-2007.

OBJECTIVE: To assess the public health consequences of the rise in multiple births with respect to congenital anomalies. DESIGN: Descriptive epidemiological analysis of data from population-based congenital anomaly registries. SETTING: Fourteen European countries. POPULATION: A total of 5.4 million births 1984-2007, of which 3% were multiple births. METHODS: Cases of congenital anomaly included live births, fetal deaths from 20 weeks of gestation and terminations of pregnancy for fetal anomaly. MAIN OUTCOME MEASURES: Prevalence rates per 10,000 births and relative risk of congenital anomaly in multiple versus singleton births (1984-2007); proportion prenatally diagnosed, proportion by pregnancy outcome (2000-07). Proportion of pairs where both co-twins were cases. RESULTS: Prevalence of congenital anomalies from multiple births increased from 5.9 (1984-87) to 10.7 per 10,000 births (2004-07). Relative risk of nonchromosomal anomaly in multiple births was 1.35 (95% CI 1.31-1.39), increasing over time, and of chromosomal anomalies was 0.72 (95% CI 0.65-0.80), decreasing over time. In 11.4% of affected twin pairs both babies had congenital anomalies (2000-07). The prenatal diagnosis rate was similar for multiple and singleton pregnancies. Cases from multiple pregnancies were less likely to be terminations of pregnancy for fetal anomaly, odds ratio 0.41 (95% CI 0.35-0.48) and more likely to be stillbirths and neonatal deaths. CONCLUSIONS: The increase in babies who are both from a multiple pregnancy and affected by a congenital anomaly has implications for prenatal and postnatal service provision. The contribution of assisted reproductive technologies to the increase in risk needs further research. The deficit of chromosomal anomalies among multiple births has relevance for prenatal risk counselling.

Spin-2 gravitational trace anomaly

The part proportional to the Euler-Poincar characteristic of the contribution of spin-2 fields to the gravitational trace anomaly is computed. It is seen to be of the same sign as all the lower-spin contributions, making anomaly cancellation impossible. Subtleties related to Weyl invariance, gauge independence, ghosts, and counting of degrees of freedom are pointed out.