A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families

We have identified 79 mutations in BRCA1 in a set of 643 Dutch and 23 Belgian hereditary breast and ovarian cancer families collected either for research or for clinical diagnostic purposes. Twenty-eight distinct mutations have been observed, 18 of them not previously reported and 12 of them occurring more than once. Most conspicuously, a 2804delAA mutation has been found 19 times and has never been reported outside the Netherlands. A common haplotype spanning > or = 375 kb could be identified for each of the nine examined recurrent mutations, indicating the presence of multiple BRCA1 founder mutations in the Dutch population. The 2804delAA mutation has been estimated to have originated approximately 32 generations ago. No specific breast or ovarian cancer phenotype could be assigned to any of the common mutations, and the ovarian cancer incidence among 18 families with the 2804delAA mutation was heterogeneous.     

Rethinking infant knowledge: toward an adaptive process account of successes and failures in object permanence tasks

Infants seem sensitive to hidden objects in habituation tasks at 3.5 months but fail to retrieve hidden objects until 8 months. The authors first consider principle-based accounts of these successes and failures, in which early successes imply knowledge of principles and failures are attributed to ancillary deficits. One account is that infants younger than 8 months have the object permanence principle but lack means-ends abilities. To test this, 7-month-olds were trained on means-ends behaviors and were tested on retrieval of visible and occluded toys. Means-ends demands were the same, yet infants made more toy-guided retrievals in the visible case. The authors offer an adaptive process account in which knowledge is graded and embedded in specific behavioral processes. Simulation models that learn gradually to represent occluded objects show how this approach can account for success and failure in object permanence tasks without assuming principles and ancillary deficits.     

The detection and documentation of trace wound patterns by use of an alternative light source

This article is a discussion of the use of narrow-band light sources coupled with cameras equipped with band-pass filters to document patterned injuries on human skin. Several case reports are included.     

Methotrexate therapy in rheumatoid arthritis: a life table review of 587 patients treated in community practice

To determine whether methotrexate (MTX) maintains its effectiveness in rheumatoid arthritis (RA) in the setting of community based private rheumatology practice we used life table analysis to review the combined experience of a group of these practices. Of 587 patients with RA who started to take MTX, total termination rate at 70 months was 24.4% with most terminations prompted by drug toxicity. Older age (greater than 65 years) was associated with higher rates of toxicity. Treatment termination rates varied substantially between rheumatologists. We conclude that MTX therapy for RA is well tolerated and maintains effectiveness for at least 70 months.     

Scabies associated with a bullous pemphigoid-like eruption

Intramuscular phenol neurolysis is a well-known procedure used to decrease spasticity and improve function in patients who have failed to respond to more conservative forms of intervention. Traditionally, this approach has been limited to spasticity reduction in limb muscles, and its use in managing spasticity of the facial muscles has not been described in the literature. This case report describes a new and previously unreported application of intramuscular neurolysis for managing severe unrelenting facial muscle spasticity in a postanoxic encephalopathic patient. Prior to the procedure, hypertonicity in the orbicularis oris muscle was so profound that it limited speech and affected cosmetic, hygienic, and nutritional status. After intramuscular phenol neurolysis of the orbicularis oris muscle, the patient's level of functioning improved.     

Low-temperature phase diagram of the heavy-fermion superconductor UPt3

The transition to the superconducting state of UPt₃ has been studied in specific-heat experiments on polycrystalline and single-crystalline samples in dependence of heat treatment, purity of starting materials and deviations from stoichiometry, as well as on substituted compounds. The concepts behind the splitting of the transition in two anomalies that are 60 mK apart are critically reviewed. The superconducting phase diagram in the B-T plane has been studied with the use of a sensitive dilatometric technique. The three superconducting phases meet at a tetracritical point and all four phase lines are of second order. From the length anomalies at the phase boundaries the pressure derivatives of the phase lines have been determined and the most stable phase under uniaxial pressure along the c-axis has been identified.     

Regulation of the raffinose permease of Escherichia coli by the glucose-specific enzyme IIA of the phosphoenolpyruvate:sugar phosphotransferase system

In enteric bacteria, chromosomally encoded permeases specific for lactose, maltose, and melibiose are allosterically regulated by the glucose-specific enzyme IIA of the phosphotransferase system. We here demonstrate that the plasmid-encoded raffinose permease of enteric bacteria is similarly subject to this type of inhibition.