Multiple osteochondromas in the archaeological record: a global review

Multiple osteochondromas is an inherited autosomal dominant condition of enchondral bone growth. The paper undertakes the first synthesis study of the 16 known cases of the condition that have been identified in the international palaeopathological record. It also includes information derived from two newly discovered cases of the disease in two adult male individuals recovered from the Medieval cemetery at Ballyhanna, Co. Donegal, Ireland. The formation of multiple osteochondromas is the best known characteristic of the disease but it also involves the development of a suite of orthopaedic deformities. These deformities, which include disproportionate short stature, inequality of bone length, forearm deformities, tibiofibular diastasis, coxa valga of the hip and valgus deformity of the knee and ankle, are discussed in relation to the archaeological cases. Numerous synonyms for the disease have been used within the various publications produced by palaeopathologists, and this can generate confusion among readers. As such, the paper recommends that in future palaeopathologists should follow the guidance of the World Health Organization and use the term multiple osteochondromas when discussing the disease.

Best of the old alongside the new: training for part-time youth workers

Set against the dearth of published research into the effectiveness of youth leadership training programmes, the present study describes how a comprehensive evaluation model was utilised to evaluate one such programme in Northern Ireland over a 3-year period. The training welds together a traditional curriculum approach and a competence-based methodology to provide an integrated experience for the part-time youth worker participants (n = 128). Self-completion questionnaires and follow-up interviews with a random sample of these youth workers and their supervisors were used to collect data. Outcomes suggest that the synthesis of these two training strategies is not only effective in meeting the learning needs of youth workers, but also leads to identifiable improvements in the range and quality of youth work programmes available to young people

Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene

We introduced a targeted single base deletion at codon 307 of the rds-peripherin gene in mice, similar mutations being known to cause autosomal dominant retinitis pigmentosa (RP) in man. Histopathological and electroretinographic analysis indicate that the retinopathy in mice homozygous for the codon 307 mutation appears more rapid than that in the naturally occurring null mutant, the rds(-/-) mouse, suggesting that the rds-307 mutation displays a dominant negative phenotype in combination with that due to haplosufficiency. RP is the most prevalent cause of registered visual handicap in those of working age in developed countries, the 50 or so mutations so far identified within the RDS-peripherin gene accounting for up to 10% of dominant cases of the disease. Given the sequence homologies that exist between the murine rds-peripherin and the human RDS-peripherin gene, this disease model, the first to be generated for peripherin-based RP using gene targeting techniques, should in principle be of value in the work-up in mice of therapeutics capable of targeting transcripts derived from the human gene.

An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance

The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype.

Le 'bon Allemand' dans le roman français de l'immédiat après-Seconde Guerre mondiale: une erreur de casting?

The end of the Occupation, which was much more violent than its beginning, dramatically affected the overall perception of Germans and Germany for many years in post-WWII France. This vision is of course reflected to a large extent in French literature. Yet, paradoxically, many novels—including the ‘best-sellers’ E ´ ducation europe´enne (1945) by Romain Gary, Mon Village a` l’heure allemande (1945) by Jean-Louis Bory or Les Foreˆts de la nuit (1947) by Jean-Louis Curtis—contain a ‘good German’ character. Firstly, this article will give an overview of the dominant representations of Germans in post-WWII France, before suggesting that the ‘good German’ character follows both a literary tradition and the humanist values of the French Resistance, to which these writers claim to subscribe. Finally, it will show how this character, far from blurring the Manichean ideology of the novel in which he appears, actually reinforces it.