The presence of multiple polymorphic forms in seven batches of raw material of a model compound having poor wettability properties (cimetidine) was studied by solution calorimetry. Due to the large number of polymorphic forms described in the literature ('Gazz. Chim. Ital., 109 (1979) 535'; 'J. Pharm. Sci., 73 (1983) 1436'; 'J. Pharm. Biomed. Anal., 3 (1985) 303') and its poor wettability characteristics, cimetidine was chosen as a model compound to illustrate the possible use of solution calorimetry in the detection of polymorphism using surfactant systems as solvents for dissolution. Due to the closeness of the melting points of the different polymorphic forms of cimetidine, DSC was not the best investigational tool. As initially suspected, the measurement of enthalpy of solution values in water of the cimetidine batches was not possible. However, the use of sodium dodecyl sulfate (SDS) and polysorbate 20 (Tween 20(R)) at concentrations above their respective cmc values permitted the detection of significant differences in enthalpy of solution among several batches. The presence of different polymorphic forms was confirmed by microscopy, X-ray powder diffractometry, and Fourier transform infrared spectroscopy.
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http://dx.doi.org/10.1016/s0378-5173(01)00877-8 | DOI Listing |
Mol Cell Proteomics
January 2025
Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Elfriede-Aulhorn-Strasse 7, 72076 Tübingen, Germany. Electronic address:
Genotype-phenotype correlations of rare diseases are complicated by low patient number, high phenotype variability and compound heterozygosity. Mutations may cause instability of single proteins, and affect protein complex formation or overall robustness of a specific process in a given cell. Ciliopathies offer an interesting case for studying genotype-phenotype correlations as they have a spectrum of severity and include diverse phenotypes depending on different mutations in the same protein.
View Article and Find Full Text PDFBiochim Biophys Acta Gen Subj
January 2025
Center for Structural Biology and Bioinformatics, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Apolipoprotein E (apoE) polymorphism is associated with different pathologies such as atherosclerosis and Alzheimer's disease. Knowledge of the three-dimensional structure of apoE and isoform-specific structural differences are prerequisites for the rational design of small molecule structure modulators that correct the detrimental effects of pathological isoforms. In this study, cross-linking mass spectrometry (XL-MS) targeting Asp, Glu and Lys residues was used to explore the intramolecular interactions in the E2, E3 and E4 isoforms of apoE.
View Article and Find Full Text PDFNucleic Acids Res
January 2025
Laboratory of Genome Regeneration, Institute for Quantitative Biosciences, The University of Tokyo, 1-1-1 Yayoi, Bunkyo-ku, Tokyo113-0032, Japan.
Eur J Pediatr
January 2025
Department of Pediatrics, Grenoble-Alpes University Hospital, Grenoble, France.
The purpose of this study was to identify pediatric eosinophilic fasciitis, which is an extremely rare condition, in order to describe their clinical, paraclinical, and therapeutic characteristics. We made a call for observations via societies for pediatric rheumatology in France and surrounding countries and collected clinical and paraclinical data of the cases fulfilling the diagnostic criteria. Eight patients under 18 years of age with confirmed eosinophilic fasciitis followed between April 2004 and July 2022 in France, Germany, Italy, and Spain were included.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.
Studies of the genetics of Alzheimer's disease (AD) have largely focused on single nucleotide variants and short insertions/deletions. However, most of the disease heritability has yet to be uncovered, suggesting that there is substantial genetic risk conferred by other forms of genetic variation. There are over one million short tandem repeats (STRs) in the genome, and their link to AD risk has not been assessed.
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