Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma.

Myocilin glaucoma is an autosomal dominant disorder leading to irreversible blindness, but early intervention can minimize vision loss and delay disease progression. The purpose of this study was to discuss the benefits of predictive genetic testing in minors for Myocilin mutations associated with childhood onset glaucoma. Three families with Myocilin mutations associated with an age of onset before 18 years and six unaffected at-risk children were identified. Predictive genetic testing was discussed with the parents and offered for at-risk minors. Parents opted for genetic testing in half of the cases. None carried the familial mutation. The age of disease onset in the family, the severity of the condition, and the age of the child are all factors that appear to influence the decision of the parent to test their children. Predictive genetic testing for early onset Myocilin glaucoma can facilitate early detection of disease or discharge from routine ophthalmic examinations.

Equipment set-up among Olympic sprint and slalom kayak paddlers.

The anthropometry and equipment set-up for sprint (31 male; 11 female) and slalom (12 male; 12 female) kayak paddlers who competed at the 2000 Olympic Games in Sydney were measured in the 15 day period before competition. This paper provides normative data for equipment set-up in these sports, as well as information about differences in rigging and paddle dimensions between sprint and slalom kayak paddlers. These differences were consistent for both male and female athletes, with sprint paddlers seated higher and using longer paddles with longer, though narrower, blades (p < 0.0001). Among male sprint paddlers, only minor differences in equipment set-up were found between competitors ranked in the top 10 places compared to the rest of the field. Considering all male paddlers initially, then sprint paddlers alone, significant (p < 0.01) regression equations were developed for the prediction of foot bar distance (r2 = 0.482 and 0.589 respectively) and hand grip distance (r2 = 0.400 and 0.541 respectively). The process of fine tuning equipment set-up often requires hours of practice with subjective feedback from the athlete. The normative data presented in this paper should assist coaches with this process as their athletes evolve toward their individual optimum set-up.

Morphological characteristics of Olympic sprint canoe and kayak paddlers.

Canoe and kayak paddlers (n = 50 M & 20 F) who competed in the sprint events at the 2000 Olympic Games in Sydney were measured on a battery of 38 anthropometry dimensions prior to competition. The ensuing analysis aimed to identify common physical characteristics that provide these elite paddlers with a competitive advantage. This study demonstrated that participants in Olympic sprint paddling events can be considered homogeneous in shape and physical size; male and female paddlers have SAMs of 1.1 and 1.0 respectively. Compared to other athlete groups, the variance in stature and body mass of paddlers is generally low. Whilst sprint paddlers are not athletes with extreme proportionality profiles, they do possess unique characteristics not commonly observed in the general population. These include a lean body composition (Phantom z-scores for skinfolds range from -1.5 to -2.5 for most sites) with proportionally large upper body girths (z-scores > +1.0 for arm and chest girths), and narrow hips (for males). The morphology of elite paddlers appears to have altered during the past 25 years toward a more compact, robust physique. This trend is especially noticeable for the female competitors.

Pain control with paracetamol from a sustained release formulation and a standard release formulation after third molar surgery: a randomised controlled trial.

OBJECTIVE: To compare the analgesic efficacy and safety of a sustained release (SR) paracetamol formulation (Panadol Extend) with a standard immediate release (IR) formulation (Panadol) after third molar surgery. DESIGN: A multi-centre, double-blind, randomised clinical trial. METHODS: Patients received either a single oral dose of SR paracetamol or IR paracetamol for pain after the removal of at least one impacted third molar requiring bone removal under general anaesthesia. Post-operative pain and pain relief assessments were undertaken at time intervals up to 8 hours. Global assessments of effectiveness were made at 4 and 8 hours. Any adverse events were also recorded. RESULTS: Of 627 randomised patients, 314 were treated with SR paracetamol and 313 with IR paracetamol. In the per protocol population at 4 hours, 35.1% of the 252 patients on SR paracetamol rated the study medication as very good or excellent compared with 27.7% of the 258 patients on IR paracetamol. There were few statistically significant differences among the secondary parameters but where they did occur they favoured SR paracetamol. Trends in favour of SR paracetamol were observed among the secondary parameters and these tended to emerge at the later time points. For example, while there was no statistically significant difference in time to re-medication between the treatment groups, the estimated time to re-medication was longer for patients treated with SR paracetamol (4 hr 5 min) compared with IR paracetamol (3 hr 10 min). The high rate of re-medication observed is consistent with that reported for IR paracetamol using the post-operative dental pain model(4,6). No difference was observed between the SR paracetamol and IR paracetamol treatment groups in distribution, incidence or severity of adverse events. CONCLUSIONS: SR paracetamol and IR paracetamol are clinically and statistically equivalent. While SR paracetamol and IR paracetamol were similar in terms of both onset of analgesia and peak analgesic effect, SR paracetamol had a longer duration of activity than IR paracetamol. The safety profiles of SR paracetamol and IR paracetamol were found to be very similar.

Interaction of temperamental resistance to control and restrictive parenting in the development of externalizing behavior.

Child temperament and parental control were studied as interacting predictors of behavior outcomes in 2 longitudinal samples. In Sample 1, data were ratings of resistant temperament and observed restrictive control in infancy-toddlerhood and ratings of externalizing behavior at ages 7 to 10 years; in Sample 2, data were retrospective ratings of temperament in infancy-toddlerhood, observed restrictive control at age 5 years, and ratings of externalizing behavior at ages 7 to 11 years. Resistance more strongly related to externalizing in low-restriction groups than in high-restriction groups. This was true in both samples and for both teacher- and mother-rated outcomes. Several Temperament x Environment interaction effects have been reported previously, but this is one of very few replicated effects.

Familial carotid body tumors: incidence and implications.

Carotid body tumors may occur sporadically (90%) or in a familial pattern (10%). One third of the patients with familial disease have bilateral tumors. We report the case of a patient with bilateral carotid body tumors and a strong family history of such tumors. Details of his evaluation and treatment are reviewed. Relatives of patients with carotid body tumors should be examined carefully, and any suspicious neck mass should be appropriately investigated.

Delayed presentation and treatment of popliteal artery embolism.

In the course of reviewing a 10-year experience with popliteal artery embolism (PAE), two distinct patterns of clinical presentation were identified. In addition to those patients presenting with typical acute (symptom duration less than 7 days) arterial ischemia, a second group was identified who presented with more chronic symptoms. The present study was conducted to contrast the clinical factors and treatment of these two temporal patterns of presentation with PAE. Sixty PAEs in 58 patients were documented by the combination of angiography and/or exploration of the popliteal artery. Acute presentation (AP) was seen in 41 (68%) of these and delayed presentation (DP) was noted in 19 (32%) patients. Delayed presentation patients typically presented with a history of sudden onset of claudication or rest pain and a median symptom duration of 30 days. Eighty per cent of AP patients presented with immediately threatened limbs. Angiography was generally diagnostic of chronic popliteal embolism. In the acute group, 90% were treated with embolectomy alone, while 20% of the DP group required bypass grafting. However in two thirds of the DP group, embolectomy alone performed through a direct popliteal approach was possible. Current results with overall limb salvage (92%) and mortality (7%) represents a substantial improvement compared to the authors' previous experience with PAE. The current study suggests that as many as one third of patients with popliteal artery embolism may present in delayed fashion with chronic symptoms. Furthermore most of these patients can be treated with direct popliteal embolectomy alone with favorable results.

The dansyl chloride technique for stratum corneum renewal as an indicator of changes in epidermal mitotic activity following topical treatment.

Using a hypomitotic agent, triamcinolone acetonide, and a hypermitotic agent, retinyl propionate, we investigated the relationship between epidermal mitotic activity and stratum corneum renewal time of topically treated skin as determined by the dansyl chloride staining technique. Treatment with the base cream resulted in a reduction in renewal time compared with an untreated control site. The predicted increase in renewal time with the hypomitotic agent and reduction with the hypermitotic agent was only observed when daily treatment was commenced 2 weeks prior to and continued after dansyl chloride staining and not when treatment was started after staining. These results indicate that in order to use cell renewal methods to demonstrate changes in mitotic activity brought about by topical treatments, it is necessary to pre-treat the skin with the test material to establish full epidermal equilibrium at the changed mitotic state before labelling with dansyl chloride. Meaningful claims for effects on cell renewal of specific cosmetic ingredients should only be made after comparison with a base cream treated site, both having been allowed to equilibrate, rather than on the basis of comparison with untreated skin.

Responses to kayak ergometer performance after kayak and bicycle ergometer training.

Ten moderately active male volunteers, age 19-30 years, completed one month of training on either a kayak or a bicycle ergometer (five men in each group). The men completed sixteen 30 minute sessions of continuous work at an intensity which maintained their HR within 85-90% of its maximum, as previously determined on the kayak ergometer. After this training period the kayak group demonstrated significant decreases in VO2, VE, HR and blood lactate in submaximal kayak ergometer work and a significant increase in VO2 during maximal kayak ergometer work. These changes contributed to a significantly higher maximal kayaking work output. The bicycle-trained group did not make any of these improvements on the kayak ergometer. However in their last training session on the bicycle ergometer they were able to work at a higher submaximal load while maintaining the same heart rate as in the first training session. It was concluded that the circulatory and metabolic adjustments to kayak work are greater with kayak training than with bicycle training.