Autosomal recessive idiopathic torsion dystonia in a kindred of mixed ancestry

A family with idiopathic torsion dystonia (dystonia musculorum deformans) was seen in a peripheral clinic in the Richtersveld in the north-western Cape. This rare inherited form of neurological disease has maximal prevalence in individuals of Ashkenazi Jewish ancestry, and there is controversy regarding the exact mode of inheritance. The kindred documented in this study was of mixed ancestry (Cape Coloured), and autosomal recessive inheritance was suggested by the finding of affected male and female siblings born to normal parents in an isolated inbred community.     

Assessment of value of glycosylated albumin and protein in detection of gestational diabetes

There is a recognized need for the early detection of gestational diabetes, and a single blood test, if reliable, would be advantageous. Because serum albumin and total protein are glycosylated and have short life spans, we investigated the usefulness of glycosylated albumin and glycosylated protein in the detection of gestational diabetes. We studied five groups, each with 20 subjects: nonpregnant and pregnant controls, nonpregnant and pregnant insulin-dependent diabetic (IDDM) patients, and gestational diabetic patients. All patients with no history of diabetes had an oral glucose tolerance test to define their carbohydrate status. Our results showed that percent glycosylated albumin and percent glycosylated protein were significantly elevated in both groups of IDDM patients compared with the other groups. However, gestational diabetic patients had glycosylated albumin and glycosylated protein values similar to those of both control groups. Both glycosylated albumin and glycosylated protein correlated well with HbA1c determinations. Thus, glycosylated albumin and glycosylated protein may be a good index of glycemic control, but they are of little value in the diagnosis of gestational diabetes because of a lack of sensitivity: 8 and 3% for glycosylated albumin and glycosylated protein, respectively.     

Antibodies to HTLV-1 in saliva of seropositive individuals from Japan

Secretory antibodies protect mucosal surfaces against transmission of many viruses. Human T-lymphotropic Virus, Type I (HTLV-I) is transmitted via blood products and via sexual contact across mucosal surfaces. We investigated the presence of HTLV-I-specific antibodies in whole saliva samples from 10 seronegative and 28 seropositive volunteers from a hospital in southern Japan. Antibodies directed to HTLV-I antigens were found in the salivas from 22 of 28 (79%) of the seropositive subjects. None of the seronegative individuals showed evidence of salivary antibodies. Antibodies directed to the envelope antigens of the virus were found in 21 of 22 positive saliva samples. Secretory antibodies may be important in preventing mucosal transmission.     

Choice of an ovarian stimulation protocol according to the follicular puncture method in an in vitro fertilization programme

In order to ascertain the adequacy of ovarian stimulation protocols with a type of follicular puncture, 126 women undergoing in vitro fertilization received either combination clomiphene/hMG or hMG alone according to a randomized test protocol. Within both groups patients for whom a pelvic examination was required had laparoscopies, while others had transvaginal ultrasonically guided punctures as far as possible. Clomiphene/hMG was more efficient than hMG alone as assessed from the cleavage rate (68% vs. 54%; p less than 0.01) and the pregnancy per attempt rate (16% vs. 5%; p less than 0.05). Laparoscopic punctures were more efficient than ultrasonically guided punctures (mean number of recovered oocytes: 4.8 +/- 2.6 vs. 3 +/- 2.5; p less than 0.001), but slightly better results were achieved by this latter method in ongoing pregnancy per puncture rate (18% vs. 8%; NS). With ultrasonically guided punctures, stimulation by clomiphene/hMG allowed better oocyte recoveries (3.8 +/- 2.5 vs. 2.3 +/- 1.9, p less than 0.05). Such results constitute an argument for preferential use of the clomiphene/hMG stimulation protocol with ultrasonically guided punctures.     

The effectiveness of intrauterine transfusions

The results of treatment with intrauterine transfusion are presented. The analysis comprised 48 successful transfusions into 29 foetuses. The reference group consisted of 11 transfusions which proved nonfeasible or ineffective and 54 untreated cases. Following blood treatment, the newborn mortality rate dropped more than threefold. Long-term follow-up of 21 children generally showed their good physical and mental development. We also present 4 cases of supsequent pregnancies after intrauterine blood treatment in a preceding pregnancy, showing that it is possible to save the next baby of the same mother.     

Training Synergies Between Medical Informatics and Health Services Research: Successes and Challenges

Stanford''s two decades of success in linking medical informatics and health services research in both training and investigational activities reflects advantageous geography and history as well as natural synergies in the two areas. Health services research and medical informatics at Stanford have long shared a quantitative, analytic orientation, along with linked administration, curriculum, and clinical activities. Both the medical informatics and the health services research curricula draw on diverse course offerings throughout the university, and both the training and research overlap in such areas as outcomes research, large database analysis, and decision analysis/decision support. The Stanford experience suggests that successful integration of programs in medical informatics and health services research requires areas of overlapping or synergistic interest and activity among the involved faculty and, hence, in time, among the students. This is enhanced by a mixture of casual and structured contact among students from both disciplines, including social interactions. The challenges to integration are how to overcome any geographic separation that may exist in a given institution; the proper management of relationships with those sub-areas of medical informatics that have less overlap with health services research; and the need to determine how best to exploit opportunities for collaboration that naturally occur.Training in medical informatics and health services research has been closely linked at Stanford University for almost two decades. Although the close linkage was deliberate, it was facilitated by historical circumstances, in particular the common academic structures in which both programs arose. In this paper, we describe some of that rationale and history, identifying the areas of overlap that we have pursued in coordinating the training opportunities for graduate students and fellows in both areas of study. As we shall note, the synergies have been great, and in some cases trainees have collaborated closely on research while also taking some of the same courses. We believe that these interactions can be a model for the design of training programs that encourage scholarly interactions between medical informatics and health services research. Although our initial charge was to describe both the successes and failures in integrating the programs, we found that we could not identify any outright failures and that it would be better to delineate the complexities and challenges that we have faced in bringing together these two disciplines.