Genetic basis of total colourblindness among the Pingelapese islanders.

Complete achromatopsia is a rare, autosomal recessive disorder characterized by photophobia, low visual acuity, nystagmus and a total inability to distinguish colours. In this disease, cone photoreceptors, the retinal sensory neurons mediating colour vision, seem viable but fail to generate an electrical response to light. Achromatopsia, or rod monochromatism, was first mapped to 2p11-2q12 (MIM 216900; ref. 3), where it is associated with missense mutations in CNGA3 (ref. 4). CNGA3 encodes the alpha-subunit of the cone cyclic nucleotide-gated cation channel, which generates the light-evoked electrical responses of cone photoreceptors. A second locus at 8q21-q22 has been identified among the Pingelapese islanders of Micronesia, who have a high incidence of recessive achromatopsia (MIM 262300). Here we narrow the achromatopsia locus to 1.4 cM and show that Pingelapese achromatopsia segregates with a missense mutation at a highly conserved site in CNGB3, a new gene that encodes the beta-subunit of the cone cyclic nucleotide-gated cation channel. Two independent frameshift deletions establish that achromatopsia is the null phenotype of CNGB3. Combined with earlier findings, our results demonstrate that both alpha- and beta-subunits of the cGMP-gated channel are essential for phototransduction in all three classes of cones.

Information-seeking behavior of health sciences faculty: the impact of new information technologies.

This paper reports on an ongoing investigation into health sciences faculty's information-seeking behavior, including their use of new information technologies. A survey was administered to all faculty in medicine, nursing, and pharmacy at the University of Illinois at Chicago. It was similar to one administered to the same population in 1991. The survey asked about faculty's use of electronic resources, documented any shift from the use of print to electronic formats, and measured the utilization of library training. The response rate was 48.5% for medicine faculty, 45.0% for nursing, and 62.5% for pharmacy. The study found that use of the print Index Medicus among faculty was in transition: While 30.5% continued to use the print resources, 68.0% of faculty accessed MEDLINE through electronic means. Faculty preferred accessing electronic databases from their offices to doing so from the library. Health sciences faculty used a wide variety of databases, in addition to MEDLINE, to fill their information needs. Most faculty did not take advantage of either in-house or electronic training sessions offered by librarians. The study concluded that the training preferences of faculty need to be further explored.

Duration of caffeine abstention influences the acute blood pressure responses to caffeine in elderly normotensives.

The effect of an acute oral caffeine load (250 mg capsule) and matching placebo on blood pressure and pulse rate were studied after 48 h caffeine abstention in 8 elderly, normotensive regular caffeine users. The caffeine loading phase was repeated after only 12 h abstention. Following 48 h abstention, supine systolic and diastolic blood pressure were higher for the 120 min study period after the acute caffeine load than placebo (12.1 mm Hg, 95% C.I. 4.3-19.9 mm Hg; P = 0.008 and 7.4 mm Hg, 3.6-11.2 mm Hg; P < 0.001 respectively). Similar differences were seen in standing blood pressure, though pulse rate was unchanged throughout. The pressor response to the acute caffeine load was significantly greater after a 48 h than a 12 hour caffeine abstention period, for supine and standing systolic and diastolic blood pressure. The changes in plasma caffeine levels after acute loading were similar after the 2 different abstention periods. Caffeine ingestion after 48 h abstention has an acute pressor effect in normotensive elderly subjects which is abolished if the abstention period is reduced to 12 h. Acute caffeine ingestion is unlikely to have a significant pressor effect in elderly normotensive subjects who are regular caffeine users as the normal period of caffeine abstention (i.e. overnight) is too short to abolish tolerance.

Working to balance styles. Managers, especially women, need to use their total personalities to be most effective for their organization.

In summary, there are two ways to approach and solve problems and to make decisions. You can use analytical skills, be objective, sensible and logical, or you can use your intuition, be creative, be innovative and imaginative. The most effective position is to have all these skills at hand so you can move back and forth between these two approaches as appropriate to the situation. Women managers are well equipped to bring both kinds of skills to the job, but, ironically, are often afraid to express the more creative side, fearing they will be perceived as "not man enough for the job." In order to get the most effective work from your women managers, you need to choose carefully those who can use both Pink and Blue skills. Then you need to make it clear that you expect and value both.

Characteristics of in vitro steroidogenesis in a woman with hyperandrogenism, a granulosa cell tumor and polycystic ovary disease. A case report.

A 20-year-old woman presented with hyperandrogenism presumed to be due to an androgen-secreting granulosa cell tumor. In order to confirm this unusual presentation, short-term tissue culture steroidogenesis of the granulosa cell tumor and contralateral polycystic ovary was performed. Testosterone and androstenedione were produced only by the polycystic ovary, whereas the tumor was producing estradiol and progesterone. The studies of in vitro steroidogenesis prevented an incorrect interpretation of the clinical presentation.

The Winnipeg Children's Hospital child protection centre: a provincial medical initiative.

The Winnipeg Children's Hospital child protection centre is a hospital-based provincial protection program that focuses on the diagnosis, treatment and prevention of child abuse and neglect in Manitoba. The multidisciplinary group of professionals working in the centre differs from most hospital-based teams in that it has a strong government liaison both functionally and financially, has strong ties to the welfare system and has legal counsel relating to the court system. The centre represents the philosophy that medical participation in welfare matters relating to children need not be relegated to the sidelines. This paper describes the centre's history and structure, and it outlines some of its research projects.

Urinary stress incontinence.

Urinary stress incontinence is overwhelmingly a disorder of women, usually in middle life, who have borne children vaginally. Nonoperative treatment, which may be used if more time is needed to evaluate the patient, may include antibiotic or estrogen therapy. Kegel exercises, or timed voiding and Credé maneuver. For those who undergo operative treatment, the retropubic urethrovesical neck suspension operation popularized by Marshall, Marchetti, and Krantz offers the best hope of success.

Benign cystic teratoma of the fallopian tube.

There have been 45 cases of cystic teratomas reported in the literature and, although all reports have been extensive, they were not summarized until 1972. Because this condition is rare, it is important to develop accurate statistics on cystic teratoma. The case reported here is the 46th to be reported and the 45th case of benign cystic teratoma.