Shwachman-Diamond syndrome: early bone marrow transplantation in a high risk patient and new clues to pathogenesis

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by exocrine pancreas insufficiency, metaphyseal dysostosis and bone marrow dysfunction. Recurrent severe bacterial infections and susceptibility to leukaemia are the major causes of morbidity and mortality occurring preferentially in patients with pancytopenia and features of myelodysplasia. Here we report a patient with SDS leading to recurrent bacterial infections and a deteriorating condition since early infancy. Extensive investigations disclosed severe pancytopenia, myelodysplasia and a clonal cytogenetic abnormality, inv(14)(q11q32), as risk factors of leukaemic transformation. He therefore underwent allogeneic geno-identical bone marrow transplantation which resulted in correction of all haematological and immunological abnormalities within an 18-month follow up period. Conclusion Bone marrow transplantation may be considered early as a valuable treatment option especially in high risk Schwachman-Diamond syndrome patients anticipating malignant transformation, life-threatening severe infections or further organ damage. Received: 19 February 1999 / Accepted: 22 June 1999     

Rehabilitation-specific communication skills training: improving the physician-patient relationship.

OBJECTIVE: Evaluate the effectiveness of a rehabilitation-specific communication skills training program for physicians. DESIGN: Three groups of rehabilitation patients were interviewed 3 mo after discharge, one group before and two groups after implementation of a communication skills training program. The setting was a free-standing rehabilitation hospital with a residency training program. A total of 245 patients who had been discharged from the rehabilitation hospital participated in the study. A communication skills training program that was designed specifically for physicians and patients in the rehabilitation setting was used as an intervention. Patients' perceptions of the extent to which physicians accomplished 18 communication tasks highlighted by the training program were gauged in a structured telephone interview. RESULTS: Participants interviewed after the training program was implemented more strongly agreed that their physicians accomplished the communication tasks assessed than did patients interviewed before the training program began. On 14 of 18 items, the differences were statistically significant (P < 0.05). CONCLUSION: Specialty-specific communication training can improve physician communication skills.     

Permeation of polychlorinated biphenyls and solutions of these substances through selected protective clothing materials

Polychlorinated biphenyls (PCBs) have been used in a number of applications, particularly in the electric power industry. While these materials are no longer manufactured in the United States, they still exist in the field. Because of the hazardous nature of these compounds, effective chemical protective clothing is required. The permeation of neat PCBs, and solutions with trichlorobenzene and paraffin oil, through 11 different protective garment materials was determined. These experiments were done both with a permeation cell with water collection medium, and by periodically swiping thumb cots which contained the challenge liquids. Contamination was a continuing problem because of the resinous, nonvolatile properties of PCBs. While the results from the two methods were not identical, they did agree qualitatively. The best protection against PCBs was provided by nitrile, Viton, Viton SF and Vitrile. While the results with PVA and Teflon were also very good, these materials have other characteristics which may make their use suspect. For most of the other materials, the performance depended on the challenge liquid. The weight and volume changes which occurred when the materials were soaked in the challenge liquids were determined. The volume changes of 80 percent of those challenge/material combinations which exhibited breakthrough correlated with the breakthrough times normalized to the square of the material thickness.     

Acanthocytosis with normolipoproteinaemia: biophysical aspects

The electrokinetic properties of normal and pathological red cells and platelets are compared.