Dermatomyositis in childhood. Review of eight cases

Eight cases of dermatomyositis in children admitted to Scottish hospitals between 1962 and 1972 have been reviewed. 6 of the 8 were currently in complete remission. In the other 2 cases the disease remained active in 1 and 1 had died of cardiac failure 6 years after the onset of disease. 5 had developed extensive soft tissue calcification for which 2 were treated with ethanehydroxydiphosphonate, one showing definite improvement and the other no change. All had been treated with corticosteroids and two in addition had had cytotoxic agents (methotrexate or cyclophosphamide). The overal prognosis had probably been improved by the use of corticosteroids but not by the cytotoxic drugs. Only one of the patients was incapacitated by residual contractures or calcinosis.     

A model of corrective gene transfer in X-linked ichthyosis

Single gene recessive genetic skin disorders offer attractive prototypes for the development of therapeutic cutaneous gene delivery. We have utilized X-linked ichthyosis (XLI), characterized by loss of function of the steroid sulfatase arylsulfatase C (STS), to develop a model of corrective gene delivery to human skin in vivo. A new retroviral expression vector was produced and utilized to effect STS gene transfer to primary keratinocytes from XLI patients. Transduction was associated with restoration of full-length STS protein expression as well as steroid sulfatase enzymatic activity in proportion to the number of proviral integrations in XLI cells. Transduced and uncorrected XLI keratinocytes, along with normal controls, were then grafted onto immunodeficient mice to regenerate full thickness human epidermis. Unmodified XLI keratinocytes regenerated a hyperkeratotic epidermis lacking STS expression with defective skin barrier function, effectively recapitulating the human disease in vivo. Transduced XLI keratinocytes from the same patients, however, regenerated epidermis histologically indistinguishable from that formed by keratinocytes from patients with normal skin. Transduced XLI epidermis demonstrated STS expression in vivo by immunostaining as well as a normalization of histologic appearance at 5 weeks post-grafting. In addition, transduced XLI epidermis demonstrated a return of barrier function parameters to normal. These findings demonstrate corrective gene delivery in human XLI patient skin tissue at both molecular and functional levels and provide a model of human cutaneous gene therapy.      

Fanconi's anemia treated by allogeneic marrow transplantation

Eight patients with Fanconi's anemia were given cyclophosphamide alone (seven patients) or combined with procarbazine and antithymocyte globulin (one patient) followed by marrow grafts from HLA-identical siblings. All patients had engraftment. Seven developed acute and three chronic graft-versus-host disease (GVHD). Three patients died with GVHD and infectious complications (days 19, 56, and 82) and one with an intracerebral hemorrhage (day 540). Four patients are surviving 647- 3435 days after grafting, two are well, and two have chronic GVHD that is improving. These results show that Fanconi's anemia can be treated successfully by allogeneic marrow transplantation.     

Die Aufklärungspflicht bei endoskopischen Operationen

Ohne Zusammenfassung     

Pain after barium enema: effect of CO2 and air on double-contrast study

One hundred fifty-one consecutive patients scheduled for double-contrast barium enema studies were assigned randomly to insufflation with either air or carbon dioxide (CO2) in a double-blind, prospective trial. Within 24 hours after the enema study, the patients were contacted by telephone by an interviewer, who completed a standard questionnaire. Radiographs from the enema studies were assessed for quality by two radiologists. Pain experienced after the procedure was graded from 0 (none) to 4 (severe). Clinically relevant (grades 2-4) pain was experienced by 30% of patients after insufflation with room air, compared with 11% of patients in whom CO2 was used for insufflation (P = .005). The mean pain score for CO2 was 0.4, and for room air, 1.2 (P less than .005). Although five patients experienced grade 4 pain after insufflation with air, no patient reported severe pain after CO2 insufflation. Post-evacuation films confirmed there was significantly less residual gas in the CO2 group. The quality of radiographs was equal in the two groups. CO2 has advantages for use in the double-contrast barium enema examination.     

Consensus criteria for the classification of carpal tunnel syndrome in epidemiologic studies.

Criteria for the classification of carpal tunnel syndrome for use in epidemiologic studies were developed by means of a consensus process. Twelve medical researchers with experience in conducting epidemiologic studies of carpal tunnel syndrome participated in the process. The group reached agreement on several conceptual issues. First, there is no perfect gold standard for carpal tunnel syndrome. The combination of electrodiagnostic study findings and symptom characteristics will provide the most accurate information for classification of carpal tunnel syndrome. Second, use of only electrodiagnostic study findings is not recommended. Finally, in the absence of electrodiagnostic studies, specific combinations of symptom characteristics and physical examination findings may be useful in some settings but are likely to result in greater misclassification of disease status.     

Partnerships and pathways of dissemination: The National Institute on Drug Abuse—Substance Abuse and Mental Health Services Administration Blending Initiative in the Clinical Trials Network

Since 2001, the National Drug Abuse Treatment Clinical Trials Network (CTN) has worked to put the results of its trials into the hands of community treatment programs, in large part through its participation in the National Institute on Drug Abuse—Substance Abuse and Mental Health Services Administration Blending Initiative and its close involvement with the Center for Substance Abuse Treatment's Addiction Technology Transfer Centers. This article describes (a) the CTN's integral role in the Blending Initiative, (b) key partnerships and dissemination pathways through which the results of CTN trials are developed into blending products and then transferred to community treatment programs, and (c) three blending initiatives involving buprenorphine, motivational incentives, and motivational interviewing. The Blending Initiative has resulted in high utilization of its products, preparation of more than 200 regional trainers, widespread training of service providers in most U.S. States, Puerto Rico, and the U.S. Virgin Islands and movement toward the development of Web-based implementation supports and technical assistance. Implications for future directions of the Blending Initiative and opportunities for research are discussed.