30S Beam Development and X-ray Bursts

Over the past three years, we have worked on developing a well-characterized 30S radioactive beam to be used in a future experiment aiming to directly measure the 30S(alpha,p) stellar reaction rate within the Gamow window of Type I X-ray bursts. The importance of the 30S(alpha,p) reaction to X-ray bursts is discussed. Given the astrophysical motivation, the successful results of and challenges involved in the production of a low-energy 30S beam are detailed. Finally, an overview of our future plans regarding this on-going project are presented.Comment: 7 pages, 2 figures, 5th European Summer School on Experimental Nuclear Astrophysics, Santa Tecla, Sicily, September 200

Quenched QCD with domain-wall fermions on coarse lattices

We investigate the existence of chiral zero modes at a^{-1} \simeq 1 GeV in quenched domain-wall QCD. Simulations are carried out for the plaquette and an RG-improved gauge actions on a 12^3x24xN_s lattice with N_s=10-50. We find that the pion mass in the chiral limit remains non-vanishing as N_s\to\infty for both gauge actions. Possible origins of this non-vanishing pion mass are discussed.Comment: LATTICE99(chiral fermions), 3 pages, 6 ps figures, LaTex, espcrc2.st

On the low fermionic eigenmode dominance in QCD on the lattice

We demonstrate the utility of a spectral approximation to fermion loop operators using low-lying eigenmodes of the hermitian Dirac-Wilson matrix, Q. The investigation is based on a total of 400 full QCD vacuum configurations, with two degenerate flavors of dynamical Wilson fermions at beta =5.6, at two different sea quark masses. The spectral approach is highly competitive for accessing both topological charge and disconnected diagrams, on large lattices and small quark masses. We propose suitable partial summation techniques that provide sufficient saturation for estimating Tr Q^{-1}, which is related to the topological charge. In the effective mass plot of the eta' meson we achieved a consistent early plateau formation, by ground state projecting the connected piece of its propagator.Comment: 15 pages, 25 figures, citations adde

An efficient trio-based mini-haplotyping method for genetic diagnosis of phenylketonuria

Objective: The phenylalanine hydroxylase (PAH) locus has high linkage disequilibrium. Haplotypes related to this locus may thus be considered sufficiently informative for genetic diagnosis and carrier screening using multi-allelic markers. In this study, we present an efficient method for haplotype analysis of PAH locus using multiplexing dyes. In addition, we explain how to resolve the dye shift challenge in multiplex short tandem repeat (STR) genotyping. Materials and Methods: One hundred family trios were included in this descriptive study. The forward primer of a tetra-nucleotide STR and the reverse primer of a variable number tandem repeat (VNTR) were labeled with three different non-overlapping dyes 5-carboxyfluorescein (FAM), 6-carboxy-N,N,N�,N�-tetramethylrhodamine (HEX) and 6-carboxy-N,N,N�,N�-tetramethylrhodamine (TAMRA). The polymerase chain reaction (PCR) products from each family trio were multiplexed for capillary electrophoresis and results were analyzed using Peak Scanner software. Results: Multiplexing trio products decreased the cost significantly. The TAMRA labeled products had a significant predictable shift (migrated at a slower electrophoretic rate) relative to the HEX and FAM labeled products. Through our methodology we achieve, the less inter-dye shift than intra-dye shift variance. Correcting the dye shift in the labeled products, according to the reference allele size, significantly decreased the inter-dye variability (P<0.001). Conclusion: Multiplexing trio products helps to detect and resolve the dye shift accurately in each family, which otherwise would result in diagnostic error. The dye system of FAM, HEX and TAMRA is more feasible and cheaper than other dye systems

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

Contains fulltext : 175115.pdf (publisher's version ) (Open Access)Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints. These conditions also share additional features, such as short stature, hypotonia, and congenital hip dislocation, but the severity and frequency of these findings are variable in each of these cutis laxa syndromes. The characteristic features for ARCL2A are abnormal isoelectric focusing and facial features, including downslanting palpebral fissures and a long philtrum. Rather, the clinical phenotype of ARCL2B includes severe wrinkling of the dorsum of the hands and feet, wormian bones, athetoid movements, lipodystrophy, cataract and corneal clouding, a thin triangular face, and a pinched nose. Normal cognition and osteopenia leading to pathological fractures, maxillary hypoplasia, and oblique furrowing from the outer canthus to the lateral border of the supraorbital ridge are discriminative features for GO. Here we present 10 Iranian patients who were initially diagnosed clinically using the respective features of each cutis laxa syndrome. Each patient's clinical diagnosis was then confirmed with molecular investigation of the responsible gene. Review of the clinical features from the cases reported from the literature also supports our conclusions

In silico structural, functional and pathogenicity evaluation of a novel mutation: An overview of HSD3B2 gene mutations

Mutations of 3 beta hydroxysteroid dehydrogenase type II (HSD3B2) gene result in different clinical consequences. We explain a patient who demonstrated a salt wasting form of 3 beta HSD deficiency in infancy. Signs of hyponatremia and hyperkalemia were recognized in the infant with ambiguous genitalia and perineal hypospadias. The 46,XY male was genotyped by direct sequencing of HSD3B2 gene. Steroid profiles showed elevated concentration of 17 hydroxyprogesterone, and decrease in concentration of cortisol, and testosterone. Dehydroepiandrotone (DHEA) to androstenedione ratio had 6 fold increases. Direct sequencing of the patient revealed homozygous missense A82P mutation in exon 3. This mutation was confirmed by segregation analysis of the parents. Bioinformatic tools were used for in silico structural and functional analyses. Also, the pathological effect of the mutation was validated by different software. Alanine is a conserved amino acid in the membrane binding domain of the enzyme and proline substitution was predicted to destabilize the protein. This report may highlight the importance of the screening programs of the disorder in Iran. (C) 2012 Elsevier B.V. All rights reserved