Learning to Live in a Therapeutic Community: A study of elderly inpatients.

Fifty-two elderly mental patients in a state hospital were transferred to a new milieu ward. In order to evaluate patient success in the unit, three outcome categories were defined nine months after the unit opened: discharge to the community, adjustment to the setting, and return to the previous ward. Despite the unit's emphasis on performance criteria for success, staff evaluations of the patients' personality rather than the patients' achievement of the behavioural criteria, accounted for success in the setting.

Morbidity in surgery: impact of the 50-hour work-week limitation in Switzerland

Work-hour regulations for residency programmes in Switzerland, including a 50-hour weekly limit, were set in on 1 January 2005. Patient safety was one of the major arguments for the implementation. As the effect of the restriction of residency work hours on patient care in Switzerland has not yet been evaluated on objective data, the aim of the present study was to assess its impact by comparing the patients' morbidity and mortality before (2001-2004) and after (2005-2008) the implementation.

Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia

Management of homozygous familial hypercholesterolaemia is notoriously difficult. For these patients, LDL apheresis is considered the treatment of choice. Treatment initiation is advocated generally from the age of seven years onwards (Thompson et al., Atherosclerosis 198:247-255, 2008). Here, we present the case of a young girl from a large inbred family of Turkish descent with homozygous familial hypercholesterolaemia and fatal outcome at the early age of 4(1/2) years.In conclusion, this case suggests that management of homozygous familial hypercholesterolaemia may require earlier and more aggressive treatment, including LDL apheresis before the age of seven years.

The Culture of the Deaf Community in the Czech Republic

Romana Mazerova. The Culture of the Deaf Community in the Czech Republic Mazerova set out to discover if the deaf community in the Czech Republic can be said to have its own culture and if so what this is. She began with a comprehensive survey of the history of the deaf from 1786 to the present day, identifying a major turning point in the exclusion of sign language from the education of the deaf around 1930, a move then reinforced in the communist period to the extent that teachers of the deaf had to sign a commitment not to use sign language in their lessons. She also noted the difference between so-called signed Czech, which is an exact translation of the spoken language, and Czech sign language, which has its own structure and even dialects. Following the historical research, Mazerova studied a range of Czech and foreign materials relating to the culture of the deaf, interviewed deaf people about their experiences in school, their participation in the activities of associations for the deaf, and their experiences as a deaf person in a hearing society (these interviews are recorded on video), and visited various associations, clubs and schools for the deaf throughout the country. She concluded that while deaf people share certain behaviours which are quite distinct from those of hearing Czechs, there is little sense of a community as such. The vast majority of deaf people were not born into the deaf community and while feel that they belong together, they do not identify themselves as part of a deaf community and do not work together as a community to achieve their goals.

Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder

In 1960, the first case report on factor XIII deficiency was published describing a seven-year-old Swiss boy with a so far unknown bleeding disorder. Today, more than 60 mutations in the factor XIIIA- and B-subunit genes are known leading to congenital factor XIII deficiency. In the present study, we describe six novel mutations in the factor XIII A-subunit gene. Additionally, we present the molecular characterisation of the first described patient with congenital factor XIII deficiency. The six novel mutations include a small deletion, Glu202 delG, leading to a premature stop codon and truncation of the protein, and a splice site mutation at the exon 10/intron 10 boundary, +1G/A, giving rise to an incorrect spliced mRNA lacking exons 10 and 11. The remaining four mutations are characterised by the single amino acid changes Met159Arg, Gly215Arg, Trp375Cys, and His716Arg, and were expressed in COS-1 cells. Antigen levels and activity of the mutants were significantly reduced compared to the wild-type. The patient described in 1960 also shows a single amino acid change, Arg77Cys. Structural analysis of all mutant enzymes suggests several mechanisms leading to destabilisation of the protein.