GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism.

Background: Glucocorticoid-remediable aldosteronism (GRA) is a form of heritable hypertension caused by a chimeric fusion resulting from unequal crossing over between 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2), which are two genes with similar sequences. Different crossover patterns of the CYP11B1 and CYP11B2 chimeric genes may be associated with a variety of clinical presentations. It is therefore necessary to develop an efficient approach for identifying the differences between the hybrid genes of a patient with GRA.

Wide-field optical sectioning for live-tissue imaging by plane-projection multiphoton microscopy.

Optical sectioning provides three-dimensional (3D) information in biological tissues. However, most imaging techniques implemented with optical sectioning are either slow or deleterious to live tissues. Here, we present a simple design for wide-field multiphoton microscopy, which provides optical sectioning at a reasonable frame rate and with a biocompatible laser dosage.

Water-induced relaxation of a degenerate vibration of guanidinium using 2D IR echo spectroscopy.

The nearly degenerate asymmetric stretch vibrations near 1600 cm(-1) of the guanidinium cation in D-glycerol/D(2)O mixtures having different viscosity were studied by 2D IR photon echo spectroscopy. The polarization-dependent photon echo signal shows two separate frequency distributions in the 2D spectrum in D(2)O, even though only one band is evident from inspection of the linear FTIR spectrum. The split components are more clearly seen at higher viscosity where the distortion of the molecule from 3-fold symmetry is even more evident.

Ultrafast vibrational spectroscopy of a degenerate mode of guanidinium chloride.

Nearly degenerate asymmetric stretches with perpendicular transition dipole moments of the deuterated guanidinium cation (DGdm(+)) in D(2)O and D-glycerol/D(2)O mixtures at 1600 cm(-1) were investigated by linear FTIR spectroscopy and polarization dependent femtosecond pump-probe spectroscopy. The vibrational coupling of the asymmetric stretches of guanidinium occurs within 0.5 ps and leads to fast decay of the anisotropy to a level of 0.

Characterization of microstructures fabricated by two-photon polymerization using coherent anti-stokes Raman scattering microscopy.

We demonstrate the possibility to image microstructures fabricated by two-photon polymerization (TPP) using coherent anti-Stokes Raman scattering (CARS) microscopy. The imaging contrast based on chemical selectivity attained by CARS microscopy is used to gather qualitative information on TPP. Upon the basis of detailed knowledge of the characteristic signatures of the photoresist Raman spectrum, quantitative relationships between laser writing conditions and polymer cross-linking are demonstrated.

Association of novel chymotrypsin C gene variations and haplotypes in patients with chronic pancreatitis in Chinese in Taiwan.

Background/aims: Variations and haplotypes of the chymotrypsin C (CTRC) gene in Chinese patients with chronic pancreatitis (CP) and control subjects with genotype-phenotype correlation were investigated.

Methods: One hundred and twenty-six patients with CP were analyzed. The entire sequence of coding regions of exons 2, 3 and 7 and their neighboring intronic regions in introns 1, 2 and 6 of the CTRC gene were analyzed using PCR sequence-specific primers and direct sequencing.

Autoimmune pancreatitis associated with high prevalence of gastric ulcer independent of Helicobacter pylori infection status.

Objectives: The relationship between Helicobacter pylori status and host tumor necrosis factor alpha (TNF-alpha) promoter susceptibility in ulcers inautoimmune pancreatitis (AIP) is unknown. We sought to study the frequency of peptic ulcer, the association of peptic ulcer with H. pylori and host TNF-alpha promoter haplotype in AIP and nonautoimmune chronic pancreatitis.

Lipoprotein lipase mutation S447X associated with pancreatic calcification and steatorrhea in hyperlipidemic pancreatitis.

Background: The factors that whether and how genes involving lipid metabolism including lipoprotein lipase (LPL) and apolipoprotein CII (apo CII) influence occurrence of acute attack of pancreatitis and chronic pancreatitis is not clear.

Goals: The aim of this study was to determine the association of LPL and apo CII genes with acute attack of pancreatitis and chronic pancreatitis in patients with hyperlipidemic pancreatitis (HLP) and hypertriglyceridemia (HTG).

Study: We performed genetic analysis of 134 patients in Taiwan with HTG (53 with HLP and 81 without HLP).

Correlation of the vibrations of the aqueous azide ion with the O-H modes of bound water molecules.

Dual frequency two-dimensional infrared spectroscopy (2D-IR) has been used to investigate the dynamics of the azide-water solvation shell. The memory of the azide transition frequencies is detected in the echo emitted by the OH stretching mode of the ion-bound water molecules. There is a significant positive correlation of the two frequency distributions that decays on a 140 fs time scale.

Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis.

Background: The mechanism by which hypertriglyceridemia (HTG) leads to pancreatitis is not clear. We sought to determine whether the genes involved in pancreatic ductal or acinar cell injury, including the cationic trypsinogen gene [protease, serine, 1 (trypsin 1) (PRSS1)], the pancreatic secretory trypsin inhibitor gene [serine peptidase inhibitor, Kazal type 1 (SPINK1)], the cystic fibrosis transmembrane conductance regulator gene [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette subfamily C, member 7) (CFTR)], and inflammation genes such as tumor necrosis factor [tumor necrosis factor, TNF superfamily, member 2 (TNF)] are associated with hyperlipidemic pancreatitis (HLP) in patients with HTG.

Methods: We performed genetic analysis of 126 HTG patients in Taiwan (46 with HLP and 80 without HLP).