A case of Alagille's syndrome with translocation (4;14) (q21;q21)

This paper reports a case of Alagille's syndrome, in association with a translocation 46,XY,t(4;14)(q21;21). The possible relationship between this autosomal dominant syndrome and the apparently balanced chromosomal rearrangement is discussed.     

Hypohidrotic ectodermal dysplasia

Summary A family carrying the X-linked gene for hypohidrotic ectodermal dysplasia (hereditary ectodermal polydysplasia or Christ-Siemens-Touraine syndrome) over three generations was monitored for more than 15 years. Two prenatal diagnoses were carried out by fetoscopy on skin biopsies. Polymorphic probes were used in the segregation analysis of the Xq11–21 region carried out on 30 members of the family. Current screening possiblitities for the carriers and prenatal diagnosis are discussed.     

Development of multi-component non-sex pheromone blends to monitor both sexes of Cydia pomonella (Lepidoptera: Tortricidae)

Nineteen host plant volatiles (HPVs) were screened for attractivity to adult codling moth Cydia pomonella (L.) as a fourth component of core blends (3K) including (E,Z)-2,4-ethyl decadienoate, (E)-4,8-dimethyl-1,3,7-nonatriene and acetic acid. Each new quaternary combination was compared with a previously reported attractive bisexual lure (4K), consisting of the 3K blend plus 6-ethenyl-2,2,6-trimethyloxan-3-ol (pyranoid linalool oxide, pyrLOX). All lure evaluations were conducted in apple, Malus domestica (Borkhausen). Several compounds were found to significantly lower total and/or female catches when added to the 3K blend, including (Z)-3-hexenol, (E)-2-hexanal and hexyl butanoate (female and total moths), and (Z)-3-hexenyl acetate and linalool (female moths). Other compounds when added to the 3K blend did not increase or decrease moth catches, including methyl salicylate, (E)-β-ocimene, limonene, β-caryophyllene, butyl hexanoate, farnesol, terpineol, terpinen-4-ol and α-pinene. A few added compounds significantly increased moth catches compared with the 3K blend, including β-pinene (male moths), (Z)-jasmone (male and total moths), (E)-β-farnesene and β-myrcene (female and total moths), and (E,E)-α-farnesene (male, female, and total moths). In addition, each of these five compounds when added to the 3K core blend performed similarly to the 4K lure (male, females, and total moths). Further studies should expand these results through tests of these and other new blends with a range of component ratios and total loading amounts. Field trials should also be replicated within all host crops of codling moth and across major geographical production regions.     

Frequency of the Mating-Type (MAT1) in Histoplasma capsulatum Isolates from Buenos Aires,Argentina

Sex is genetically determined in Histoplasma capsulatum, governed by a sex-specific region in the genome called the mating-type locus (MAT1). We investigate the distribution of isolates of two H. capsulatum mating types in the clades circulating in Buenos Aires, Argentina. Forty-nine H. capsulatum isolates were obtained from the culture collection of the Mycology Center. The MAT1 locus was identified by PCR from the yeast suspension. The analysis of forty-eight isolates from clinical samples exhibited a ratio of 1.7 (MAT1-1:MAT1-2) and the only isolate from soil was MAT1-1. Forty-five H. capsulatum isolates belonged to the LAm B clade (H. capsulatum from Latin American group B clade) and showed a ratio of 1.8 (MAT1-1:MAT1-2). These results suggest an association between the mating types in isolates belonging to the LAm B clade. It remains to be defined whether a greater virulence should be attributed to the differences between the strains of the opposite mating type of the LAm B clade.

     

Addition of terpenoids to pear ester plus acetic acid increases catches of codling moth (Lepidoptera: Tortricidae)

Field studies were conducted to evaluate new kairomone blends in combination with pear ester (E,Z)‐2,4‐ethyl decadienoate (PE) and acetic acid (AA) for their attraction of male and female codling moth, Cydia pomonella (L.), in apple, Malus domestica Borkhausen. The addition of decanal to either AA or PE alone significantly increased total and female moth catches. However, the addition of decanal did not improve the attraction of PE + AA. The addition of either the pyranoid (PyrLOX) or furanoid (FurLOX) linalool oxide but not linalool (LOL) increased moth catches with PE but did not increase catches with PE + AA. Similarly, the addition of PyrLOX plus decanal did not improve PE + AA. The addition of (E)‐4,8‐dimethyl‐1,3,7‐nonatriene (DMNT) to either AA, PE + AA or PE + AA+decanal did not significantly increase moth catches. However, the addition of PyrLOX to traps with PE + AA and DMNT (4‐component lure) significantly increased moth catches compared with PE + AA alone or any of the ternary blends of these volatiles. Females accounted for 60%–80% of the total catch with this 4‐component lure. The 4‐component blend with PyrLOX was a more attractive lure than similar blends that substituted LOL, or a binary blend of LOL and FurLOX for PyrLOX. The 4‐component blend caught nearly fourfold more total and female moths than the purported attractant N‐butyl sulphide when it was used in combination with PE + AA. These results indicate that significant improvements in monitoring, mating disruption and mass trapping of codling moth are possible. Further studies are needed to assess the new attractive blend's effectiveness in combination with sex pheromone lures and to evaluate whether other host plant volatiles can be added or substitute for DMNT or LOX when used in combination with PE + AA.     

Treatment with apolipoprotein A-1 mimetic peptide reduces lupus-like manifestations in a murine lupus model of accelerated atherosclerosis

Introduction

The purpose of this study was to evaluate the effects of L-4F, an apolipoprotein A-1 mimetic peptide, alone or with pravastatin, in apoE^-/-Fas^-/-C57BL/6 mice that spontaneously develop immunoglobulin G (IgG) autoantibodies, glomerulonephritis, osteopenia, and atherosclerotic lesions on a normal chow diet.

Methods

Female mice, starting at eight to nine weeks of age, were treated for 27 weeks with 1) pravastatin, 2) L-4F, 3) L-4F plus pravastatin, or 4) vehicle control, followed by disease phenotype assessment.

Results

In preliminary studies, dysfunctional, proinflammatory high-density lipoproteins (piHDL) were decreased six hours after a single L-4F, but not scrambled L-4F, injection in eight- to nine-week old mice. After 35 weeks, L-4F-treated mice, in the absence/presence of pravastatin, had significantly smaller lymph nodes and glomerular tufts (P_{L, LP} < 0.05), lower serum levels of IgG antibodies to double stranded DNA (dsDNA) (P_L < 0.05) and oxidized phospholipids (oxPLs) (P_{L, LP} < 0.005), and elevated total and vertebral bone mineral density (P_{L, LP} < 0.01) compared to vehicle controls. Although all treatment groups presented larger aortic root lesions compared to vehicle controls, enlarged atheromas in combination treatment mice had significantly less infiltrated CD68⁺ macrophages (P_LP < 0.01), significantly increased mean α-actin stained area (P_LP < 0.05), and significantly lower levels of circulating markers for atherosclerosis progression, CCL19 (P_{L, LP} < 0.0005) and VCAM-1 (P_L < 0.0002).

Conclusions

L-4F treatment, alone or with pravastatin, significantly reduced IgG anti-dsDNA and IgG anti-oxPLs, proteinuria, glomerulonephritis, and osteopenia in a murine lupus model of accelerated atherosclerosis. Despite enlarged aortic lesions, increased smooth muscle content, decreased macrophage infiltration, and decreased pro-atherogenic chemokines in L-4F plus pravastatin treated mice suggest protective mechanisms not only on lupus-like disease, but also on potential plaque remodeling in a murine model of systemic lupus erythematosus (SLE) and accelerated atherosclerosis.     

Molecular architecture of the ribosome‐bound Hepatitis C Virus internal ribosomal entry site RNA

Internal ribosomal entry sites (IRESs) are structured cis‐acting RNAs that drive an alternative, cap‐independent translation initiation pathway. They are used by many viruses to hijack the translational machinery of the host cell. IRESs facilitate translation initiation by recruiting and actively manipulating the eukaryotic ribosome using only a subset of canonical initiation factor and IRES transacting factors. Here we present cryo‐EM reconstructions of the ribosome 80S‐ and 40S‐bound Hepatitis C Virus (HCV) IRES. The presence of four subpopulations for the 80S•HCV IRES complex reveals dynamic conformational modes of the complex. At a global resolution of 3.9 Å for the most stable complex, a derived atomic model reveals a complex fold of the IRES RNA and molecular details of its interaction with the ribosome. The comparison of obtained structures explains how a modular architecture facilitates mRNA loading and tRNA binding to the P‐site. This information provides the structural foundation for understanding the mechanism of HCV IRES RNA‐driven translation initiation.