Molecular Analysis of Myophosphorylase Deficiency in Dutch Patients with McArdle's Disease

We report on 8 Dutch patients with McArdle's disease from 6 unrelated families. Molecular analysis revealed the presence of four previously described mutations: the common R49X mutation, the IVS14+1G>A mutation and the recently reported R269X and Y84X nonsense mutations; and two new molecular defects: a missense mutation R138W in the homozygous state in two siblings, and a frameshift mutation c.1797delT. This first genetic study of patients from The Netherlands with McArdle's disease confirms that the R49X mutation is also the most common in Dutch patients, and that there is genetic heterogeneity within this population. Moreover, our data support the hypothesis that the Y84X mutation is a relatively frequent mutation in McArdle's patients with a Central European background, and expand the already crowded map of mutations within the PYGM gene responsible for McArdle's disease.     

Multidimensional approach to the differences between muscular and articular temporomandibular patients: coping, distress, and pain characteristics.

OBJECTIVE: This study analyzes the differences in psychological variables and symptomatology between temporomandibular disorder diagnosis subgroups. STUDY DESIGN: The sample included 114 temporomandibular disorder patients that were evaluated in coping, distress, and temporomandibular characteristics. Diagnostic muscular (n = 58) and articular (n = 56) subgroups were compared in these variables through a MANCOVA. RESULTS: Muscular patients show a higher level of general distress, specifically in the anxiety and somatization subscales and a more active coping style, with a tendency of a minor use of humor and a higher number of parafunctional habits, specifically, biting nails, hangnails, and lips. CONCLUSION: We discuss the differences found in order to design the targets of the psychological intervention of temporomandibular patients.     

Physical and spectroscopic methods for the evaluation of the interactions of antimitotic agents with tubulin.

The physico-chemical methods for the study of the binding of ligands to tubulin are examined in-depth, emphasizing the assumptions on which they are based and their limitations. The criteria of specificity and linkage to protein self-association are presented. It is shown that, of the direct equilibrium binding techniques, Hummel-Dreyer gel permeation chromatography and rapid ultracentrifugation are applicable only when binding is not linked to protein self-association. Disc filtration is valid only when the reverse unbinding reaction is very low. Binding linked to protein self-association can be measured by batch gel permeation or by dialysis equilibrium. The indirect techniques, such as fluorescence perturbation or difference absorption spectroscopy are discussed in terms of the assumptions on which they are based. They are shown to be used best only after characterization of the binding by direct techniques. Equilibrium binding parameters can also be deduced from careful kinetic experiments. Comparison of calorimetrically measured enthalpies of binding to van't Hoff enthalpies derived from equilibrium measurements indicates that the method of choice is calorimetric, while comparison with van't Hoff analysis can reveal the existence of reaction steps not detected by equilibrium measurements. Use of other indirect approaches, such as titration of an enzymic activity, can also lead to the detection of additional steps. The criteria are set up for the proper data analysis of ligand binding linked to protein self-association and the selection of the proper mode of linkage. It is shown how the thermodynamic contributions of various moieties of a ligand can be established by a rational structural modification of the ligand and the proper analysis of the binding measurements, in which all non-specific entropic contributions are taken into account. It is demonstrated also how a similar analysis of binding data can lead to conclusions about the reaction pathway from a comparison of equilibrium thermodynamic measurements on judiciously modified ligand molecules.     

Infected chronic hematoma mimicking soft tissue neoplasm

A rare case of an infected chronic hematoma in a patient with immunodeficiency syndrome mimicking a soft tissue neoplasm is presented. There are few reported cases of hematogenous infection of chronic hematomas, which be difficult to differentiate from soft tissue neoplasms.     

Comparison of selective media for isolation of Campylobacter jejuni/coli

A comparison of Skirrow's, Butzler's, Blaser's, Campy-BAP and Preston media for Campylobacter spp was made using human, animal and environmental specimens. Butzler's medium gave the lowest isolation rate and Preston medium, which was the most selective, the highest isolation rate. Enrichment culture using Preston enrichment broth gave a higher isolation rate than direct plating onto Preston medium.