Amnio-exchange for gastroschisis does not help, and may even harm

This is a mini commentary on D Luton et al., pp. 1233–1241 in this issue. To view this article visit https://doi.org/10.1111/1471-0528.15804

Focus on Prenatal Detection of Micrognathia

Fetal micrognathia involves abnormal or arrested development of the fetal mandible. Till recently, the prenatal diagnosis was subjective, based on the evaluation of the fetal profile and assessment of the relationship between the maxilla and the mandible. Recently objective sonographic methods have been utilized for diagnosing micrognathia such as the inferior facial angle, the jaw index, the frontal nasomental angle, the mandible width/maxilla width ratio and the mandibular length. Another useful sonographic sign, the mandibular gap in the retronasal triangle view, increases the accuracy of the diagnosis early in the first trimester. 3D sonographic views can add to the diagnosis and prenatal MRI is a useful adjunct to ultrasound in cases of limited acoustic window, maternal obesity, oligohydramnios and anterior spine position. The identification of micrognathia should prompt karyotyping and sonographic investigation for other abnormalities. The outcome of fetuses with this seemingly isolated finding is more guarded than one would intuitively believe, and the parents should be counseled accordingly. Postnatal complications including mild to severe upper airway obstruction leading to respiratory distress, feeding difficulties and mild to severe long-term developmental delay are common. One should be careful in pronouncing a fetus having ‘micrognathia’, especially on subjective evaluation, as this term implies that the fetus is abnormal with presence of significant pathology. There is no ‘gold standard’ for a definitive diagnosis of micrognathia on post-natal evaluation. Using a combination of objective sonographic markers as well as follow-up ultrasound assessments can significantly reduce the risk of a false diagnosis. Follow-up scans should be arranged, and neonatal service should be alerted in cases of ongoing pregnancies

Strongly correlated crystal-field approach to Mott insulator LaCoO3

Our success in description of recent electron-spin-resonance results on Mott insulator LaCoO3, Phys. Rev. B 67 (2003) 172401, lies in taking into account strong electron correlations among d electrons and the relativistic spin-orbit coupling. In the developed by us Quantum Atomistic Solid State Theory (QUASST) we assume that the atomic-like integrity of the 3d^6 system is preserved in the Co^3+ ion in LaCoO3 and that intra-atomic correlations are much stronger than crystal field interactions. We conclude that in LaCoO3 there is no intermediate spin state as came out from band-structure calculations. The excited states originate from the high-spin 5T2g term, being 12 meV above the ground 1A1 state. We are convinced that many-electron CEF approach with strong correlations and the atomic-scale orbital magnetism is physically adequate approach to 3d oxides. Keywords: Mott insulator, crystal field, spin-orbit coupling, LaCoO3Comment: 5 pages, 3 figures in RevTeX

Novel mutations in the toll like receptor genes cause hyporesponsiveness to Mycobacterium avium subsp. paratuberculosis infection

Toll like receptors play a central role in the recognition of pathogen associated molecular patterns (PAMPs). Mutations in TLR1, TLR2 and TLR4 genes may change the PAMP reorganization ability which causes altered responsiveness to the bacterial pathogens. A case control study, performed to assess the association between TLR gene mutations and susceptibility to Mycobacterium avium subsp. paratuberculosis (MAP), revealed novel mutations (TLR1 - Ser150Gly and Val220Met; TLR2 - Phe670Leu) that hindered either PAMP recognition or further downstream TLR pathway activation. A cytokine expression experiments (IL-4, IL-8, IL-10, IL-12 and IFN-γ) in the challenged mutant and wild type moDCs (mocyte derived dendritic cells) confirmed the negative impact of these mutations and altered TLR downstream activation. Further In silico analysis of the TLR1 and TLR4 ectodomains (ECD) revealed the polymorphic nature of the central ECD and irregularities in the central LRR motifs. The most critical positions that may alter the pathogen recognition ability of TLR were: the 9th amino acid position in LRR motif (TLR1, LRR10) and 4th residue downstream to LRR domain (exta LRR region of TLR4). The study describes novel mutations in the TLRs and presents their association with the MAP infection

Prenatal Diagnosis of WAGR Syndrome.

Wilm's tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11

Methane and carbon dioxide adsorption on edge-functionalized graphene: A comparative DFT study

With a view towards optimizing gas storage and separation in crystalline and disordered nanoporous carbon-based materials, we use ab initio density functional theory calculations to explore the effect of chemical functionalization on gas binding to exposed edges within model carbon nanostructures. We test the geometry, energetics, and charge distribution of in-plane and out-of-plane binding of CO2 and CH4 to model zigzag graphene nanoribbons edge-functionalized with COOH, OH, NH2, H2PO3, NO2, and CH3. Although different choices for the exchange-correlation functional lead to a spread of values for the binding energy, trends across the functional groups are largely preserved for each choice, as are the final orientations of the adsorbed gas molecules. We find binding of CO2 to exceed that of CH4 by roughly a factor of two. However, the two gases follow very similar trends with changes in the attached functional group, despite different molecular symmetries. Our results indicate that the presence of NH2, H2PO3, NO2, and COOH functional groups can significantly enhance gas binding with respect to a hydrogen-passivated edge, making the edges potentially viable binding sites in materials with high concentrations of edge carbons. To first order, in-plane binding strength correlates with the larger permanent and induced dipole moments on these groups. Implications for tailoring carbon structures for increased gas uptake and improved CO2/CH4 selectivity are discussed.Comment: 12 pages, 7 figure

Next Generation Sequencing Assay for Detection of Circulating HPV DNA (cHPV-DNA) in Patients Undergoing Radical (Chemo)Radiotherapy in Anal Squamous Cell Carcinoma (ASCC).

Background: Following chemo-radiotherapy (CRT) for human papilloma virus positive (HPV+) anal squamous cell carcinoma (ASCC), detection of residual/recurrent disease is challenging. Patients frequently undergo unnecessary repeated biopsies for abnormal MRI/clinical findings. In a pilot study we assessed the role of circulating HPV-DNA in identifying "true" residual disease. Methods: We prospectively collected plasma samples at baseline (n = 21) and 12 weeks post-CRT (n = 17). Circulating HPV-DNA (cHPV DNA) was measured using a novel next generation sequencing (NGS) assay, panHPV-detect, comprising of two primer pools covering distinct regions of eight high-risk HPV genomes (16, 18, 31, 33, 35, 45, 52, and 58) to detect circulating HPV-DNA (cHPV DNA). cHPV-DNA levels post-CRT were correlated to disease response. Results: In pre-CRT samples, panHPV-detect demonstrated 100% sensitivity and specificity for HPV associated ASCC. PanHPV-detect was able to demonstrate cHPV-DNA in 100% (9/9) patients with T1/T2N0 cancers. cHPV-DNA was detectable 12 weeks post CRT in just 2/17 patients, both of whom relapsed. 1/16 patients who had a clinical complete response (CR) at 3 months post-CRT but relapsed at 9 months and 1/1 patient with a partial response (PR). PanHPV-detect demonstrated 100% sensitivity and specificity in predicting response to CRT. Conclusion: We demonstrate that panHPV-detect, an NSG assay is a highly sensitive and specific test for the identification of cHPV-DNA in plasma at diagnosis. cHPV-DNA post-treatment may predict clinical response to CRT

Roof above the head : A qualitative assessment of rural housing in India

The development of rural housing in a manner that results in adequate, quality shelter for inhabitants of Mahatma Gandhi’s “real India” is a challenge before the nation. What are the issues confronting rural housing development in India? The litany of its woes is endless. At first impression, rural housing is vulnerable to weaknesses in the delivery system for housing materials and services. Gradually, it dawns on the observer that the sector is deeply affected by the infrastructure deficit – roads, electricity supply, drinking water and sanitation. It has been bypassed by the numerous economic revolutions that have made India a vibrant economic superpower. For instance housing finance, which played a key role in the urban housing explosion, is conspicuous by its absence in the rural setting. Additionally, the limited mobility of rural households, the lack of vibrancy in the market for village properties and the marked volatility in agricultural incomes combine to dampen the prospects of this nebulous sector.Housing

Morbid adherence of the placenta: lack of specificity should remind us that ultrasound is a screening tool.

Excellent performance has been reported with prenatal diagnosis of abnormal placental invasion using ultrasound. We describe a case which illustrates the validity of ultrasound features of abnormally invasive placentation in women without previous caesarean delivery. CASE: Ms. CB, a 27 year-old G3 P1+1 was seen in her pregnancy at 36 weeks of gestation. Her first pregnancy was uncomplicated and she gave vaginal birth to a normally grown baby at term. Before the current pregnancy, she suffered a miscarriage in the first trimester, and underwent surgical evacuation. She suffered prolonged vaginal blood loss for which she was investigated, and a diagnosis of A-V malformation (AVM) was made on the basis of the ultrasound findings (Figure 1). She conceived spontaneously before intervention