Search

Classic Refsum disease (RD) is a rare, autosomal recessively-inherited disorder of peroxisome metabolism due to a defect in the initial step in the alpha oxidation of phytanic acid (PA), a C16 saturated fatty acid with four methyl side groups, which accumulates in plasma and lipid enriched tissues (please see van den Brink and Wanders, Cell Mol Life Sci 63:1752-1765, 2006). It has been proposed that the disease complex in RD is in part due to the high affinity of phytanic acid for retinoid X receptors and peroxisome proliferator-activated receptors. Structurally, epidermal hyperplasia, increased numbers of cornified cell layers, presence of cells with lipid droplets in stratum basale and reduction of granular layer to a single layer have been reported by Blanchet-Bardon et al. (The ichthyoses, SP Medical & Scientific Books, New York, pp 65-69, 1978). However, lamellar body (LB) density and secretion were reportedly normal. We recently examined biopsies from four unrelated patients, using both OsO4 and RuO4 post-fixation to evaluate the barrier lipid structural organization. Although lamellar body density appeared normal, individual organelles often had distorted shape, or had non-lamellar domains interspersed with lamellar structures. Some of the organelles seemed to lack lamellar contents altogether, showing instead uniformly electron-dense contents. In addition, we also observed mitochondrial abnormalities in the nucleated epidermis. Stratum granulosum-stratum corneum junctions also showed co-existence of non-lamellar and lamellar domains, indicative of lipid phase separation. Also, partial detachment or complete absence of corneocyte lipid envelopes (CLE) was seen in the stratum corneum of all RD patients. In conclusion, abnormal LB contents, resulting in defective lamellar bilayers, as well as reduced CLEs, likely lead to impaired barrier function in RD.

[11] Pyrroles are often accessed by the classical Paal-Knorr [12] or Hantzsch pyrrole syntheses. This synthesis of pyrroles permits access to diversely substituted pyrroles suitable for follow-up reactions to give more-complex heterocyclic scaffolds. Keywords: alkynylation; copper catalysis; cyclocondensation; multicomponent reaction; cascade reaction; pyrroles EN alkynylation copper catalysis cyclocondensation multicomponent reaction cascade reaction pyrroles 1781 1786 6 08/29/23 20230915 NES 230915 Graph Pyrroles are ubiquitous in natural products and pharmaceutical chemistry. Alkynylation, copper catalysis, cyclocondensation, multicomponent reaction, cascade reaction, pyrroles. [Extracted from the article]

Laser processing of monocrystalline silicon has become an important tool for a wide range of applications. Here, we use microsecond spot laser melting as a model experiment to investigate the generation of crystal defects and residual stress. Using Micro-Raman spectroscopy, defect etching, and transmission electron microscopy, we find no dislocations in the recrystallized volume for cooling rates exceeding | d T / d t | = 2 × 10 7 K/s, and the samples remain free of residual stress. For cooling rates less than | d T / d t | = 2 × 10 7 K/s, however, the experiments show a sharp transition to a defective microstructure that is rich in dislocations and residual stress. Moreover, transmission electron microscopy indicates dislocation loops, stacking-fault tetrahedra, and voids within the recrystallized volume, thereby indicating supersaturation of intrinsic point defects during recrystallization. Complementing photoluminescence spectroscopy indicates even three regimes with decreasing cooling rate. Spectra of regime 1 do not contain any defect related spectral lines. In regime 2, spectral lines appear related to point defect clusters. In regime 3, the spectral lines related to point defect clusters vanish, but dislocation-related ones appear. We propose a quantitative model explaining the transition from dislocation-free to dislocation-rich recrystallization by means of the interaction between intrinsic point defects and dislocations. [ABSTRACT FROM AUTHOR]