Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth

Capillary malformations are slow-flow vascular malformations that affect the microcirculation including capillaries and post capillary venules and can be associated with growth differences. Specifically, the association of capillary malformations with undergrowth is a vastly understudied vascular syndrome with few reports of genetic causes including PIK3CA, GNAQ, and GNA11. Recently, a somatic pathogenic variant in AKT3 was identified in one child with a cutaneous vascular syndrome similar to cutis marmorata telangiectatica congenita, undergrowth, and no neurodevelopmental features. Here, we present a male patient with a capillary malformation and undergrowth due to a somatic pathogenic variant in AKT3 to confirm this association. It is essential to consider that mosaic pathogenic variants in AKT3 can cause a wide spectrum of disease. There is a need for future studies focusing on capillary malformations with undergrowth to understand the underlying mechanism.     

The relationship between the stages of exercise adoption and other health behaviors

PURPOSE: To examine the relationship between stage of exercise adoption and the practice of other health behaviors. DESIGN: Demographic, socioeconomic, and health behavior data were collected using a cross-sectional mail survey. Data were collected as part of a larger employee benefits research study. SETTING: Montana State University-Bozeman, Bozeman, Montana. SUBJECTS: University employees (n = 1269) comprised of 46% men with a mean age of 44 years. MEASURES: Demographic and socioeconomic data included age, sex, marital status, level of income and education, dependent status, and job classification. Stage of exercise adoption classifications were based on self-reported responses to four exercise statements. The health behaviors included in this study were cigarette and smokeless tobacco use, seat belt use, alcohol use, and use of stress management practices. Logistic regression analysis was used to determine if stage of exercise predicted the presence of each of the health behaviors while controlling for demographic, socioeconomic, and other health behavior variables. RESULTS: The survey response rate was 68%. Respondents in action exercise stage (p = .0367) were less likely to smoke cigarettes than respondents in precontemplation stage of exercise. Respondents in contemplation (p = .0419), preparation (p = .0060), action (p = .0432), and maintenance (p = .0006) were more likely to use seat belts than respondents in precontemplation. Respondents in maintenance (p = .0059) were more likely to use regular stress reduction techniques than respondents in precontemplation. CONCLUSIONS: Although longitudinal research is needed to determine any causal relationships, this research suggests that encouraging individuals to become more involved in exercise could indirectly influence other health behaviors. Hence, exercise could be a possible "gateway" behavior toward healthier lifestyle practices.     

Control of intraocular pressure after trabeculectomy

Control of intraocular pressure (IOP) is the goal of trabeculectomy, and pursuit of this goal does not end with the completion of the surgical procedure. Proper postoperative management of the trabeculectomy patient requires an understanding of possible events that alter IOP and knowledge of the treatments to control IOP. Recent changes in surgical technique, including the use of antimetabolites, have provided new challenges in the postoperative management of trabeculectomy patients. Interventions are described to restore the flow of aqueous to the filtering bleb in the early postoperative period, to manage flat anterior chambers with both high and low intraocular pressures, to manage a failing filtering bleb, and to manage hypotony. Herein we discuss current methods for controlling IOP in the postoperative period.     

Thymic function, aging, and AIDS

For the first time, physicians are challenged by clinical states in which the T-cell pool is destroyed postnatally in large numbers of patients. One such state is AIDS; another is the immune damage of cancer chemotherapy. Accordingly, study of postnatal thymic function is now a matter of clinical urgency. Ongoing work may point toward new strategies for repairing a damaged T-cell repertoire.     

Combination of autologous blood injection and bleb compression sutures to treat hypotony maculopathy

PURPOSE: To report successful use of a combination of autologous blood injection and bleb compression sutures to treat overfiltration with hypotony maculopathy after trabeculectomy with mitomycin C. METHODS: Two patients underwent the combined procedure and were followed until visual acuity and intraocular pressure (IOP) were stable over three consecutive visits (4 to 9 months). RESULTS: Both patients experienced improvement in visual acuity both subjectively and objectively, and both patients had an elevation in IOP that persisted over three consecutive visits. CONCLUSIONS: Combination autologous blood injection and bleb compression suture placement may be an effective means of treating hypotony maculopathy after trabeculectomy with mitomycin C.     

Studies in menorrhagia: (a) mefenamic acid, (b) endometrial prostaglandin concentrations

Twenty-two women with unexplained heavy menstrual blood loss (average loss for two cycles of >80 ml) were treated with the prostaglandin synthetase inhibitor menfenamic acid during two consecutive menstruations. There was a significant reduction in menstrual blood loss on mefenamic acid therapy, the median loss being 137 ml before treatment and 76 ml while on treatment. Reduction in menstrual loss was achieved in 20 of the 22 patients but varied from a 2% to 78% reduction. The greater the menstrual loss before treatment, the more it was reduced on mefenamic acid therapy. Endometrial concentrations of prostaglandins E2 and F2 alpha in the follicular phase of the cycle were similar whether or not patients had menorrhagia. In the luteal phase, however, 6 of 14 patients with menorrhagia had higher endometrial prostaglandin E2 and F2 alpha concentrations than all 13 controls.