Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation

PurposeTo evaluate the asymmetry of the anterior segment phenotype between the two eyes of a patient with Axenfeld-Rieger syndrome (ARS).MethodsThe entire database of a tertiary glaucoma practice was screened for patients with ARS. The medical records of patients with ARS were reviewed. The clinical characteristics of ocular examination of the two eyes of each patient were recorded and compared. Dental and medical information were also reviewed where available. The anterior segment phenotype was tabulated to assess asymmetry. Asymmetric anterior segment characteristics of patients with ARS were compared with reported cases in the literature.ResultsEight patients with ARS were identified from screening of more than 5,000 patients of a tertiary glaucoma practice. All patients had Axenfeld-Rieger anomaly in both eyes except one patient presented with an asymmetric phenotype of the anterior segment with features of Axenfeld-Rieger anomaly in one eye, but aniridia in the other eye. This patient had non-ocular findings including flat midface, hypodontia with lack of an upper incisor, and redundant periumbilical skin, typical for ARS. A heterozygous C>T nucleotide substitution was identified in exon 4 of the pituitary homeobox 2 (PITX2) gene, resulting in the replacement of a glutamine codon (CAG) with a stop codon (TAG) at amino acid position 67. This mutation is denoted c.199C>T at the cDNA level or p.Gln67Stop (or Q67X) at the protein level. Only three cases with asymmetric anterior segment phenotype between the two eyes of a patient with AGS have been reported in the literature.ConclusionsVariability in phenotype may occur between the two eyes of an individual affected by ARS. The current case undermines the advantage of genetic testing to correctly diagnose a rare disease

Undesired effect of excessive betamethasone administration during pregnancy: A rare case

Background: Postpartum bilateral femoral neck fracture (BFNF) is a rare condition. We here report a case of BFNF due to excessive corticosteroid consumption, twin pregnancy, immobility, and vitamin D deficiency. Case: This is a report of a 32-yr-old woman with bilateral femoral insufficiency fracture five days after emergency cesarean section due to preterm labor, twin pregnancy, and the history of a previous cesarean section at 33 wk. Antenatal repeated courses of betamethasone injections for fetal lung maturity, daily oral use of prednisolone for the history of miscarriage, immobilization, and vitamin D deficiency were the important contributing factors in her past medical history and lab investigations. The bone mineral density examination showed low bone density for the expected age. Conclusion: Clinicians, who deal with pregnant women, should consider the diagnosis of bilateral femoral insufficiency fracture in any pregnant women with pelvic pain. Awareness of risk factors of BFNF might help to reduce the rate of this complication. © 2018, Research and Clinical Center for Infertitlity. All rights reserved

Undesired effect of excessive betamethasone administration during pregnancy: A rare case

Background: Postpartum bilateral femoral neck fracture (BFNF) is a rare condition. We here report a case of BFNF due to excessive corticosteroid consumption, twin pregnancy, immobility, and vitamin D deficiency. Case: This is a report of a 32-yr-old woman with bilateral femoral insufficiency fracture five days after emergency cesarean section due to preterm labor, twin pregnancy, and the history of a previous cesarean section at 33 wk. Antenatal repeated courses of betamethasone injections for fetal lung maturity, daily oral use of prednisolone for the history of miscarriage, immobilization, and vitamin D deficiency were the important contributing factors in her past medical history and lab investigations. The bone mineral density examination showed low bone density for the expected age. Conclusion: Clinicians, who deal with pregnant women, should consider the diagnosis of bilateral femoral insufficiency fracture in any pregnant women with pelvic pain. Awareness of risk factors of BFNF might help to reduce the rate of this complication. © 2018, Research and Clinical Center for Infertitlity. All rights reserved

Pore-scale Modeling of Viscous Flow and Induced Forces in Dense Sphere Packings

We propose a method for effectively upscaling incompressible viscous flow in large random polydispersed sphere packings: the emphasis of this method is on the determination of the forces applied on the solid particles by the fluid. Pore bodies and their connections are defined locally through a regular Delaunay triangulation of the packings. Viscous flow equations are upscaled at the pore level, and approximated with a finite volume numerical scheme. We compare numerical simulations of the proposed method to detailed finite element (FEM) simulations of the Stokes equations for assemblies of 8 to 200 spheres. A good agreement is found both in terms of forces exerted on the solid particles and effective permeability coefficients

The Neuronal EGF-Related Gene Nell2 Interacts with Macf1 and Supports Survival of Retinal Ganglion Cells after Optic Nerve Injury

Nell2 is a neuron-specific protein containing six epidermal growth factor-like domains. We have identified Nell2 as a retinal ganglion cell (RGC)-expressed gene by comparing mRNA profiles of control and RGC-deficient rat retinas. The aim of this study was to analyze Nell2 expression in wild-type and optic nerve axotomized retinas and evaluate its potential role in RGCs. Nell2-positive in situ and immunohistochemical signals were localized to irregularly shaped cells in the ganglion cell layer (GCL) and colocalized with retrogradely-labeled RGCs. No Nell2-positive cells were detected in 2 weeks optic nerve transected (ONT) retinas characterized with approximately 90% RGC loss. RT-PCR analysis showed a dramatic decrease in the Nell2 mRNA level after ONT compared to the controls. Immunoblot analysis of the Nell2 expression in the retina revealed the presence of two proteins with approximate MW of 140 and 90 kDa representing glycosylated and non-glycosylated Nell2, respectively. Both products were almost undetectable in retinal protein extracts two weeks after ONT. Proteome analysis of Nell2-interacting proteins carried out with MALDI-TOF MS (MS) identified microtubule-actin crosslinking factor 1 (Macf1), known to be critical in CNS development. Strong Macf1 expression was observed in the inner plexiform layer and GCL where it was colocalizied with Thy-1 staining. Since Nell2 has been reported to increase neuronal survival of the hippocampus and cerebral cortex, we evaluated the effect of Nell2 overexpression on RGC survival. RGCs in the nasal retina were consistently more efficiently transfected than in other areas (49% vs. 13%; n = 5, p<0.05). In non-transfected or pEGFP-transfected ONT retinas, the loss of RGCs was approximately 90% compared to the untreated control. In the nasal region, Nell2 transfection led to the preservation of approximately 58% more cells damaged by axotomy compared to non-transfected (n = 5, p<0.01) or pEGFP-transfected controls (n = 5, p<0.01)

Measurement of the Bottom-Strange Meson Mixing Phase in the Full CDF Data Set

We report a measurement of the bottom-strange meson mixing phase \beta_s using the time evolution of B0_s -> J/\psi (->\mu+\mu-) \phi (-> K+ K-) decays in which the quark-flavor content of the bottom-strange meson is identified at production. This measurement uses the full data set of proton-antiproton collisions at sqrt(s)= 1.96 TeV collected by the Collider Detector experiment at the Fermilab Tevatron, corresponding to 9.6 fb-1 of integrated luminosity. We report confidence regions in the two-dimensional space of \beta_s and the B0_s decay-width difference \Delta\Gamma_s, and measure \beta_s in [-\pi/2, -1.51] U [-0.06, 0.30] U [1.26, \pi/2] at the 68% confidence level, in agreement with the standard model expectation. Assuming the standard model value of \beta_s, we also determine \Delta\Gamma_s = 0.068 +- 0.026 (stat) +- 0.009 (syst) ps-1 and the mean B0_s lifetime, \tau_s = 1.528 +- 0.019 (stat) +- 0.009 (syst) ps, which are consistent and competitive with determinations by other experiments.Comment: 8 pages, 2 figures, Phys. Rev. Lett 109, 171802 (2012

O-C Study of 545 Lunar Occultations from 13 Double Stars

International audienceIn this article, we have studied the reports of lunar occultations by this project observation's teams (named APTO) in comparison with other observations of the objects. Thirteen binary stars were selected for this study. All the previous observations of these stars were also collected. Finally, an analysis of O-C of all reports were performed

Diversity of geophilic dermatophytes species in the soils of iran; the significant preponderance of nannizzia fulva

A molecular epidemiology study was conducted between 2016 and 2017 by a network of collaborators from 12 provinces in the Islamic Republic of Iran. A total of 1484 soil samples from different habitats were screened for the presence of dermatophytes by using the hair baiting technique. The primary identification of isolates was carried out by amplification and MvaI restriction fragment length polymorphism (RFLP) of the internal transcribed spacers regions of ribosomal DNA (ITS-rDNA). The identifications, especially in the cases of isolates with unknown RFLP patterns, were confirmed by sequencing of the ITS-rDNA region. As a result, 256 isolates were recovered. The isolation rate was higher in soils with pH range 7.1–8.0, collected from animal habitats (n = 78; 34%) and parks and gardens (n = 75; 32%), geographically from Mazandaran Province (n = 115; 49.5%) and seasonally in the spring (n = 129; 50.4%), all of which were statistically significant (p < 0.05). The dermatophytes comprising five species of the two genera, viz., Nannizzia fulva (n = 214), N. gypsea (n = 34), Arthroderma quadrifidum (n = 5), A. gertleri (n = 2) and A. tuberculatum (n = 1), were isolated. The geophilic dermatophytes occurred in various soils from different parts of Iran; however, surprisingly, N. fulva emerged as the dominant species, outnumbering the common geophilic species of N. gypsea. For the definitive identification of soil inhabitant dermatophytes, DNA-based identification is strongly recommended

What is the potential for replacing monocultures with mixed-species stands to enhance ecosystem services in boreal forests in Fennoscandia?

The boreal forests of Fennoscandia are largely dominated by Norway spruce and Scots pine. Conifer monocultures have been favoured in forest management during the last decades. Recently, concern has risen that forests consisting of only one tree species could be vulnerable to biotic damage. Additionally, environmental and societal changes are placing new demands on forest utilization, thus shifting the focus to alternative forest management options providing a wider scale of ecosystem services. It has been proposed that mixed forests are better than monocultures with respect to biodiversity, risk management and recreational value. By synthesising research studies, we provide an overview of current knowledge on how to combine wood production and other ecosystem services in mixed boreal forests in Fennoscandia. We addressed the following questions in more detail: what are the effects of mixed forests on soil properties, understorey vegetation, biodiversity, wildlife, resistance to and resilience against damage, forest productivity and the multiple use of forests? Furthermore, what are the silvicultural possibilities for establishing and managing mixed forests?Based on this review, mixed forests appear to provide a higher output of most ecosystem goods and services, including higher biodiversity and improved risk management, soil properties and multiple-use values. The most serious challenge is the browsing by cervids, which damages sapling stands. There is potential to establish single-storied mixed forests with current regeneration methods and material. Further research is particularly needed on the silvicultural practices suited for mixed boreal forests