Mutations in GJB6 cause hidrotic ectodermal dysplasia.
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to C Hand.
Explore the source record for details and available documents.
OBJECTIVE: To explore an approach for informing the development of regional policy by eliciting the considered views of GP participants at an educational event. In particular we discuss the reaction of GP participants to this approach. (In this instance our GP participants were trainers and the evolving policy under discussion was that of 'clinical governance'.) METHOD: An educational event was planned to facilitate discussion and the recording of the considered views of GP trainer participants. The acceptability of this approach to the participants was evaluated via observation and through feedback forms. RESULTS: While observation suggested that the participants were involved in many lively and constructive discussions, the feedback generated showed that many participants felt uncomfortable about the use of an educational event to inform development. DISCUSSION: We recognize the need to inform and facilitate change through the involvement of those who will be participants in the change process. The rapid timescales imposed by change and the 'burden' of additional research involvement on practitioners are issues. Approaches based on action research and participatory research principles may have potential and can throw light on the difficulties we experienced. CONCLUSION: We need to identify approaches which will allow us to ground development within the views of those to be affected by change. Our own attempt demonstrated difficulties. We would welcome further debate over methods and approaches applicable in this border territory between research, development and education.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Cells from patients with inherited lysosomal deficiency diseases can acquire the missing lysosomal enzyme by direct cell-to-cell transfer from normal lymphocytes. Cells from I-Cell Disease (Mucolipidosis type II; ICD) patients are simultaneously deficient in many lysosomal enzymes due to an inborn error of glycoprotein processing. In this study we show that such cells acquire high levels of several of the missing lysosomal enzymes when they are cultured in contact with lymphocytes. Moreover, the present results also show that enzyme levels in the donor lymphocytes are not depleted but increase during cell contact with the fibroblasts.
Morphine plasma concentrations were determined in six patients receiving kidney transplants from living-related donors, and nine patients receiving kidney transplants from cadavers. The total cold ischemic time was about 2 hr for kidneys from living-related donors and 14 hr for those from cadavers. After an intravenous bolus dose of morphine, plasma morphine concentrations decreased to a plateau that lasted for several hours; morphine elimination resumed when the transplanted kidney began to clear creatinine. The duration of the total cold ischemic time was significantly related to both the duration of the plateau in morphine concentration (P = 0.008) and the first postoperative day creatinine clearance (P = 0.021). Morphine elimination half-life after the plateau was related to first postoperative day creatinine clearance (P less than 0.001). It was concluded that morphine elimination depended upon intact renal function.
Changes in the activities of several lysosomal enzymes were studied during transformation of mouse spleen cells in vitro. The activity of beta-glucuronidase increased during culture in the presence of T or B-cell mitogens, and lymphoblasts contained higher levels of activity than did small, non-transformed lymphocytes. Moreover, lymphoblasts in well-transformed cultures had higher activities than those in poorly-transformed cultures. The activities of other lysosomal enzymes (N-acetyl-beta-glucosaminidase, alpha-mannosidase, beta-glucosidase) also increased during mitogenic stimulation, but each at different rates, although aryl sulphatase was unaffected. Such differences may be of importance when lymphocytes are used for diagnosis of inherited lysosomal deficiency diseases.
Unlike most nematocysts, undischarged spirocyst threads bear hollow tubules rather than spines. The undischarged tubules are interconnected in hexagonal arrays and appear to be arranged in bundles along the length of the thread. Although the wall of the thread is folded in length and width, the tubules are not. Upon discharge and contact with sea water, the tubules solubilize and adhere to various substrates and prey. Traction between such objects and the everting thread causes the tubules to spin out into a web or meshwork of fine microfibrillae. Lack of contact of the everting thread with objects results in the tubules forming small droplets of partially solubilized material, some of which appear to be arranged in a helical pattern around the thread. The web or meshwork formed by the solubilized tubules in contact with various substrates probably serves to increase significantly the surface area and adhesive properties of the everted spirocyst thread.
In Norfolk, Virginia, two epidemics of disease due to proved penicillinase-producing Neisseria gonorrhoeae were investigated intensively, both epidemiologically and medically. The first epidemic appeared in October 1976 and was controlled in one month; it was followed by a hiatus of four years before the emergence of the second epidemic in October 1980. The latter apparently was brought under control by December 1980, since no more patients with penicillinase-producing N. gonorrhoeae have been discovered to date (March 1982). Certain interesting medical aspects emerged from the investigation. Resistant organisms were cultured from asymptomatic as well as symptomatic patients and from all potentially infected sites. At times, resistant organisms were cultured from only one of several sites in a given patient or both resistant and sensitive organisms were cultured from a single site. It was concluded that this type of gonorrhea can be contained by intensive epidemiologic investigation combined with adequate diagnosis and treatment.