Unintended diagnosis of Von Hippel Lindau syndrome using Array Comparative Genomic Hybridization (CGH): counseling challenges arising from unexpected information.

Array Comparative Genomic Hybridization (array CGH) is a powerful tool for identifying genomic imbalances and providing a diagnosis in individuals with a normal karyotype. It has been particularly useful in the investigation of individuals with developmental delay +/-, dysmorphic features and/or multiple congenital abnormalities. However, this non-targeted method of scanning the whole genome can reveal unexpected information. We present a case where array CGH identified the cause of a proband's moderate mental retardation by discovery of a de novo deletion of chromosome 3p25.3. This deletion was shown to contain at least 25 genes including the VHL gene, the deletion or mutation of which leads to Von Hippel Lindau (VHL) syndrome. Presymptomatic testing for VHL is usually offered after appropriate genetic counseling about the implications of this condition. Therefore, scanning the genome by array CGH presents a number of challenges for the genetic counselor. We suggest that further understanding of the psychosocial effects of array CGH is needed in order for appropriate pre- and post-test counseling to be provided.

A catalogue of the nematode slide collection from the late W.L. Nicholas held at National Research Collections Australia, CSIRO.

A catalogue is presented of the nematode slide collection of W.L. Nicholas, which is deposited in the National Research Collections Australia at CSIRO. This is the most extensive slide collection of free-living marine and estuarine nematodes from Australia to date, and consists of 553 putative species, collected across a wide range of Australias eastern and northern regions over the course of nearly 40 years. The collection contains mostly marine and estuarine free-living nematodes collected on coarse substrate in littoral habitats. The most abundant genera were Desmodora, Theristus, and Onyx. Most taxa were found rarely, being recorded only once, and repeated sampling at several sandy beach sites revealed only a small proportion of the fauna on more than one occasion. A significant proportion of the taxa were also found to be widespread, occurring on more than one occasion at more than one location, with Theristus sp., Onyx sp., and Viscosia sp. occurring in the greatest number of localities. The catalogue adds an additional 90 species and 160 genera to the documented fauna of Australian free-living nematodes verifiable by specimens in permanent collections. It thus provides a better framework for studying nematode biodiversity and biogeography in the region.

Blood lactate, heart rate and rating of perceived exertion responses of elite surf lifesavers to high-performance competition.

A paucity of empirical research exists into surf lifesaving competition from which coaches and athletes may formulate training and recovery strategies. Seventeen (male=9; female=8) high-performance surf lifesavers (21.2+/-3.9 years) contested multiple rounds of team and individual events at a 2-day surf lifesaving competition. Individual events consisted of the multi-discipline ironman (IRON), paddle board (BOARD) and surf swim (SWIM). Blood lactate (BLa), rating of perceived exertion (RPE) and heart rate (HR) were determined following heats, semi-finals and final. IRON HR and RPE following semi-finals (153.0+/-21.6beatsmin(-1) and 14.4+/-1.5) and final (171.0+/-9.1beatsmin(-1) and 19.1+/-0.2) were greater than heats (141.8+/-17.2beatsmin(-1) and 12.0+/-1.9; p<0.05) and final BLa (10.5+/-2.8mmolL(-1)) was greater than heats (5.8+/-3.6mmolL(-1); p<0.05). BOARD BLa and HR were greater after the final (9.0+/-2.8mmolL(-1) and 159.0+/-19.9beatsmin(-1)) compared to heats (4.7+/-2.4mmolL(-1) and 133.0+/-17.1beatsmin(-1); p<0.05). No significant differences were identified for SWIM. RPE-HR relationships were identified for pooled IRON and BOARD results following semi-finals (0.668; p<0.05) and finals (r=0.741; p<0.05). In conclusion, high-performance surf lifesavers employ race strategies with all-out maximal exercise limited to semi-finals and finals.

From the Medical Board of the National Psoriasis Foundation: monitoring and vaccinations in patients treated with biologics for psoriasis.

BACKGROUND: Biologics are widely used in the treatment of psoriasis and psoriatic arthritis. OBJECTIVE: Our aim was to arrive at a consensus on the kind of monitoring and the vaccinations that should be performed before and during biologic therapy. METHODS: Medical literature and data presented at meetings were reviewed and a consensus conference was held by members of the Medical Board of the National Psoriasis Foundation. RESULTS: Consensus was established on monitoring and vaccination practices that included discussion and recognition of variations in those practices. History, physical examination, chemistry screen with liver function tests, complete blood cell count, and platelet count and tuberculosis testing are widely obtained at baseline and with variable frequencies thereafter. Patients treated with efalizumab have platelet counts checked more often; liver function tests are repeated more frequently in patients treated with infliximab; patients taking tumor necrosis factor blockers undergo tuberculosis testing more often; and patients treated with alefacept have CD4 counts checked approximately every 2 weeks. Avoidance of live vaccines during biologic therapy and administration of essential vaccines before biologic therapy were discussed, although vaccination is performed only to a variable degree. There was no consistency in the measurement of antinuclear antibodies among the experts. LIMITATIONS: There are few evidence-based studies on monitoring practices for patients with psoriasis taking biologic therapies. CONCLUSIONS: In patients taking biologic therapies for psoriasis, monitoring of blood chemistries, blood counts, CD4 counts, antinuclear antibodies, tuberculin skin tests, history, and physical examination may be warranted depending on the particular therapy and the particular patient. Vaccination practices are also addressed.

Effect of exercise mode on heart rate variability during steady state exercise.

This study examined the effect of exercise mode on geometrical, and time and frequency domain measures of heart rate variability (HRV) during steady-state, moderate intensity exercise of the same HR. Seventeen healthy, active male participants volunteered for this study and completed a treadmill VO2max determination. One week later, cardiorespiratory, perceptual and HRV measures were recorded during seated rest (15 min) and consecutive bouts (15 min) of steady-state exercise at 50 and 65% of maximal HR. Exercise was performed using either upper body (arm ergometer), lower body (cycle) or whole body (treadmill) modes. Separated by 1 week and in a random order, participants undertook the same procedures with the remaining exercise modes. Cardiorespiratory, perceptual and HRV responses were determined during rest and steady-state exercise and analysed by two-way (mode vs. stage) repeated measures ANOVA and post hoc pairwise comparisons. Apart from a reduced respiratory rate during lower body exercise, whole and lower body exercise resulted in similar cardiorespiratory, perceptual and HRV responses. Compared to whole or lower body exercise, upper body exercise resulted in significantly (P < 0.05) greater measures of HRV particularly those within the very low (0-0.04 Hz) and low (0.04-0.15 Hz) frequency bands, greater rating of perceived exertion and less oxygen consumption. Upper body, moderate intensity exercise resulted in greater HRV compared to whole or lower body exercise with further studies necessary to elucidate the mechanisms and clinical implications for this greater HRV.

Intralimb coordination variability in peripheral arterial disease.

BACKGROUND: Increased variability has been traditionally associated with decreased movement performance due to disease and aging. However, recent research indicates that variability may be of functional importance in motor control. Thus the purpose of this study was to determine whether individuals with peripheral arterial disease and suffering from intermittent claudication have reduced intralimb joint coordination variability compared to individuals without peripheral arterial disease. A further aim was to examine the efficacy of various techniques used to describe intralimb joint coordination variability. METHODS: Participants with peripheral arterial disease and suffering from intermittent claudication (n=28) were selected based on an appropriate history of peripheral arterial disease and intermittent claudication, ankle brachial pressure index <0.9 in at least 1 leg and a positive Edinburgh claudication questionnaire response. A further group of participants (n=25) free of peripheral arterial disease (ankle brachial pressure index >0.9) and who were non-regular exercisers were recruited from the community to act as age and mass matched controls. All participants underwent 2D angular kinematics analysis during normal walking. Intralimb coordination variability was measured using parameterization, vector coding and normalized root mean square techniques applied to relative motion plots of various joint couplings. Differences between groups were examined by one-way ANOVA. FINDINGS: Participants with peripheral arterial disease and suffering from intermittent claudication displayed significantly greater intralimb joint coordination variability than age and mass matched controls participants for all joint couplings using all intralimb joint coordination variability techniques. INTERPRETATION: These findings suggest that higher levels of intralimb joint coordination variability of the lower limbs in participants with peripheral arterial disease and suffering from intermittent claudication may be an adaptation of the motor control system to deal with perturbations associated with the gradual onset of claudication pain.

Lower limb movement variability in patients with peripheral arterial disease.

BACKGROUND: Peripheral arterial disease is a chronic obstructive disease of the arteries of the lower limb caused by atherosclerosis. The resultant decrease in blood flow can result in symptoms of pain in the lower limb on exercise known as intermittent claudication. Exercise induced pain is experienced in the calves, thigh or buttocks restricting activities of daily living and thus reducing quality of life. METHODS: This study investigated lower limb movement variability in individuals with peripheral arterial disease-intermittent claudication (n=28) compared to individuals without peripheral arterial disease-intermittent claudication (control, n=25). A further aim was to examine the efficacy of various techniques used to describe single joint movement variability. All participants underwent two-dimensional angular kinematics analysis of the lower limb during normal walking. Single joint movement variability was measured using linear (spanning set and coefficient of variation) techniques. Between group differences were examined by one-way ANOVA. FINDINGS: The peripheral arterial disease-intermittent claudication participants displayed significantly higher levels of lower limb movement variability in all joints when assessed using the coefficient of variation technique. There were no significant between group differences using the spanning set technique. INTERPRETATION: Individuals with peripheral arterial disease-intermittent claudication have higher levels of lower limb movement variability and reduced walking speed compared to healthy age and mass matched controls. This variability may be an adaptation to the gradual onset of ischaemic pain in this population.

Thermoregulatory responses of junior lifesavers wearing protective clothing.

This study investigated the influence of protective clothing worn to prevent marine stinger envenomation on the thermoregulatory responses of pre-pubescent surf lifesavers exercising in situ under hot and humid conditions (27 degrees C, 78% relative humidity). Participants performed beach and water activities typically associated with junior surf lifesaving competition in a randomised cross-over design on two separate occasions 7 days apart: one wearing a full-length Lycra stinger suit (S) and one wearing normal swimwear (SW). Skin (T(SK)) and core (T(C)) body temperatures, skin blood flow (SKBF), heart rate (HR), body mass, thermal comfort and perceived effort were assessed pre-, mid- (following beach activities) and post-exercise (following water activities). Sweat rates were compared between S and SW. T(C) was greater following beach activities for S (37.78 degrees C+/-0.06) compared to SW (37.60 degrees C+/-0.07; p<0.05) and male participants experienced greater T(C) (37.97 degrees C+/-0.09) than their female counterparts (37.71 degrees C+/-0.07 degrees C). T(SK) following both the beach and water activities were lower than pre-exercise (p<0.05). SKBF was significantly increased for calf across time (p<0.01). Male participants experienced a higher HR for S compared to female participants (p<0.01) while the opposite applied to SW (p<0.01). There were no gender or between-condition differences for sweat rate or perceived effort. There was evidence of heat storage while stinger suits were worn during beach activities in the absence of any differences in exercise intensity or sweat rate. The results of the present study suggest that the stinger suits should be limited to water-based activities.

Effects of a 12-month exercise program on cardiorespiratory health indicators of Vietnam War veterans resident in the tropics.

OBJECTIVE: To measure the effect of a combined aerobic and resistance exercise program on key cardiovascular disease risk factors (i.e. body composition or anthropometry and cardiorespiratory function) of Australian male, Vietnam War veterans living in the tropics. DESIGN: Twelve-month exercise program with assessments at commencement, 3, 6 and 12 months. SETTING: North Queensland regional centre. PARTICIPANTS: Australian male, Vietnam War veterans (n = 164) resident in north Queensland. MAIN OUTCOME MEASURES: Measurement of heart rate, blood pressure, skinfold and girth measurements, exercise heart rate response and estimated aerobic capacity to determine whether the implementation of a simple aerobic and resistance exercise program could positively change selected cardiovascular disease risk factors in Vietnam Veterans. RESULTS: Significant improvements were reported for systolic blood pressure (131.1 (SD 15.7) reduced to 122.7 (12.4) mmHg), diastolic blood pressure (82.7 (9.1) reduced to 76.3 (10.3) mmHg), resting heart rate (73 (11) reduced to 69 (11) bpm), sum of skinfolds (127.5 (40.3) reduced to 99.5 (32.1) mm), waist girth (103.2 (12.0) reduced to 100.5 (12.1) cm), hip girth (105.3 (9.6) reduced to 103.7 (10.4) cm) and aerobic capacity (2.17 (0.39) increased to 2.36 (0.34) L min(-1)). CONCLUSION: Participation in a combined aerobic and resistance training program elicited significant anthropometric and cardiorespiratory benefits that might lead to a decreased risk of developing cardiovascular disease for male Vietnam War veterans resident in rural and regional areas.

Exercise self-efficacy of postmenopausal women resident in the tropics.

OBJECTIVES: Weight gain and the associated increased risk of coronary artery disease are associated with the postmenopausal period. However, moderate intensity physical activity may be cardioprotective in this period. Australian women remain predominately sedentary despite the health benefits of regular exercise. Self-efficacy is an important predictor of exercise behaviour influencing exercise adoption when faced with potential barriers. Determination of exercise self-efficacy levels and the most significant barriers to exercise is necessary for the success of intervention programs for this population. METHODS: Postmenopausal women (N=101) resident in tropical North Queensland were recruited via announcements in local media, service club newsletters and electronic bulletin boards. Following data collection, participants were categorised as exercisers (n=53) or non-exercisers (n=48) based on whether they had performed a minimum of 150 min of accumulated moderate intensity exercise in the past 7 days. Exercise self-efficacy was determined via questionnaire. RESULTS: Results indicated that exercisers had a higher level of exercise self-efficacy and felt significantly more confident to exercise when faced with barriers compared to non-exercisers (p<.001). Discriminant function analysis found that exercise self-efficacy provided the greatest discrimination between exercisers and non-exercisers. The barrier items of conflicting schedules, difficulty getting to an exercise location and the weather were the main contributors to discrimination between exercisers and non-exercisers. CONCLUSIONS: Findings suggest that future intervention programs should aim to increase exercise self-efficacy and address these barriers so that more postmenopausal women resident in North Queensland can obtain the health benefits of exercise.

Pre-pubertal children and exercise in hot and humid environments: a brief review.

The ability of pre-pubertal children to regulate their body temperature under thermoneutral environments is similar to that of an adult albeit via differing routes. However, this ability is challenged when exposed to extreme environments. Thermoregulatory responses of pre-pubertal children differ from adults via adaptations that occur during growth and maturation and disadvantage children when exercising in hot and humid environments. When ambient temperatures exceed that of the skin, an influx of thermal energy from the environment increases thermal stress. When coupled with exercise, the increased thermal stress results in reduced physical performance and an increased risk of developing heat-related illness. Evidence suggesting the severity of heat-related illness is greater in pre-pubertal children than adults is inconclusive because age-related differences in thermoregulatory responses are attributed to either morphologic or functional changes. Additionally, the majority of research on pre-pubertal children exercising in the heat has been maturational or comparative studies with adults conducted in the near absence of convective cooling, complicating extrapolation to field-based environments. However, current consensus is that pre-pubertal children are disadvantaged when exercising in extreme temperatures and that care should be taken in preparing for and conducting sporting activities in hot and humid environments for pre-pubertal children. Key pointsPre-pubertal children's ability to thermoregulate when exposed to hot and humid environments is deficient compared to adults.Research into the severity of heat-related illness in pre-pubertal children is inconclusive.Discretion should be used in applying findings from indoor studies to outdoor activities due to the influence of the velocity of circulating air on thermoregulation.

Photoaging: mechanisms and repair.

UNLABELLED: Aging is a complex, multifactorial process resulting in several functional and esthetic changes in the skin. These changes result from intrinsic as well as extrinsic processes, such as ultraviolet radiation. Recent advances in skin biology have increased our understanding of skin homeostasis and the aging process, as well as the mechanisms by which ultraviolet radiation contributes to photoaging and cutaneous disease. These advances in skin biology have led to the development of a diversity of treatments aimed at preventing aging and rejuvenating the skin. The focus of this review is the mechanism of photoaging and the pathophysiology underlying the treatments specifically designed for its prevention and treatment. LEARNING OBJECTIVES: At the conclusion of this learning activity, participants should be familiar with the mechanism of photoaging, the treatments for photoaging, and the data that supports the use of these treatments.

The effect of clinical UVA/B exposures on urinary urocanic acid isomer levels in individuals with caucasian type (II/III) skin types.

Terrestrial ultraviolet radiation (UVR) exposure, consisting of ultraviolet A (320-40 nm) and B (290-320 nm), results in the photoisomerizion of epidermal trans-urocanic acid (trans-UCA) to cis-urocanic acid (cis-UCA), a potential suppressor of local and systemic immune responses. This study examines urinary UCA isomers as biomarkers of UVA/B exposure. It presents results measuring both cis- and trans-UCA in human urine samples collected from a group of study subjects (skin types II/III) that underwent controlled UVA/B exposures similar to those administered in commercial suntanning parlors. The UCA isomers were purified from urine using C18 solid-phase extraction columns followed by high-performance liquid chromatography (HPLC) with UV absorbance (268 nm) detection. The UCA biomarker was expressed as the ratio of cis-UCA to trans-UCA (UCA ratio), or as cis-UCA concentration corrected for urine volume using creatinine (cis-UCA-Cr). The UCA ratio increased over baseline in the urine of individuals exposed to UVA/B. A single exposure to approximately 70 percent minimal erythema dose (MED) of UVR (95 % UVA/5 % UVB to approximately 90 % of skin area) produced a 4.75-fold increase in the UCA ratio (p< 0.001) relative to baseline. Repeated daily UV exposures of similar doses produced a minimal increase in UCA ratio above that of the single UV exposure. These findings indicate that UCA cis-trans ratio holds promise as a biomarker for recent solar UV exposure.

Enumeration of water-borne bacteria using viability assays and flow cytometry: a comparison to culture-based techniques.

Maintaining optimal conditions in catchments or distribution systems relies heavily on water authorities having access to rapid and accurate water quality data, including an indication of bacteriological quality. In this study, the BacLight bacterial viability kit and carboxyfluorescein diacetate (CFDA) were coupled with flow cytometry (FCM) for rapid detection of physiologically active bacteria from raw and potable waters taken from various locations around South Australia. Results were compared to the direct viable count (DVC) and quantitative DVC (qDVC), in addition to the culture-based methods of the heterotrophic plate count (HPC) and a commercial SimPlate technique. Raw and potable water analysis revealed that DVC and culture-based techniques reported significantly fewer viable bacteria compared to the number of physiologically active bacteria detected using the rapid FCM assays, where this difference appeared to be nonlinear across different samples. Inconclusive results were obtained using qDVC as a viability assay. In particular, HPC results were 2-4 log orders of magnitude below that reported by the FCM assays for raw waters. Few bacteria in potable waters examined were culturable by HPC, even though FCM assays reported between 5.56 x 10(2) and 3.94 x 10(4) active bacteria ml(-1). These differences may be attributed to the presence of nonheterotrophic bacteria, sublethal injury or the adoption of an active but nonculturable (ABNC) state.

A comparative study of carboxyfluorescein diacetate and carboxyfluorescein diacetate succinimidyl ester as indicators of bacterial activity.

Staining bacteria with esterified fluorogenic substrates followed by flow cytometric analysis offers a means for rapid detection of metabolically active bacteria. Flow cytometry (FCM) was used to assess carboxyfluorescein diacetate (CFDA) and carboxyfluorescein diacetate succinimidyl ester (CFDA/SE) as indicators of bacterial activity for cultured bacteria, including Aeromonas hydrophila, Bacillus subtilis, Escherichia coli, Pseudomonas aeruginosa, Staphylococcus epidermidis and bacteria from environmental waters. In theory, CFDA/SE should be a better indicator of metabolic bacterial activity compared to CFDA due to greater intracellular retention of the fluorescent product. Qualitative and quantitative analysis of exponential phase cultures, mixtures of active and inactive cells and bacteria from environmental waters revealed CFDA was successful in detecting active bacteria, whereas CFDA/SE was not. CFDA/SE labelled inactive cells with intensities equal to that of the active population and could not even discriminate between bacteria in exponential phase growth and a fixed cell preparation. We propose that the specific mode of action of the succinimidyl ester (SE) group in combination with the nonenzymatic aqueous hydrolysis of the CFDA moiety results in the nonspecific labelling of all cells, irrespective of their metabolic state. This study shows that CFDA/SE is a poor marker of bacterial activity.

Chronic stress accelerates ultraviolet-induced cutaneous carcinogenesis.

BACKGROUND: Physical and emotional stressors have been found to mediate a wide variety of biological changes including the facilitation of tumor progression; however most of these paradigms utilized artificial sources of neoplasms and stress. METHODS: Skh mice were exposed to carcinogenic doses of ultraviolet light (UV). The stressed group was subjected to the close proximity of fox urine as a source of stress from the presence of the odor of their natural predator, while the control group remained stress free. RESULTS: A significant acceleration in the development of cutaneous neoplasms was observed in mice that had been exposed to the stressor. The first tumor appeared in the group after 8 weeks, whereas nonstressed mice began to develop these by week 21. CONCLUSION: These results suggest that stress plays a role in potentiating cutaneous carcinogenesis.

Ultrastructure of the Head of Okranema eileenae Greenslade and Nicholas, 1991 (Thoracostomopsidae: Nematoda).

Okranema eileenae is a marine nematode from Australian sandy beaches. The structure of its cephalic region is described by light, scanning, and transmission electron microscopy. Three large lips, separated by three deep clefts and surmounted by flexible liplets, surround the mouth. Transverse and longitudinal sections of the head have been used to investigate the ultrastructure of the lips, buccal cavity, mandibles, and cephalic sensilla. The pharyngeal muscles are attached to the external head cuticle over a broad band, forming the cephalic capsule, which terminates in the three connected cuticular cephalic arches-one in each lip. Three mandibles form the central core of each lip, cuticular structures from which two small teeth-denticles and one large central tooth, the onchium-project into the buccal cavity. The onchia are anterior extensions of the pharynx that contain the ducts of pharyngeal glands that discharge into the buccal cavity. Epidermal tissue extends anteriorly as far as the cephalic arch. Cephalic structures, apart from sensory setae, are formed from an expanded cephalic cuticle.The inner labial, outer labial, and cephalic setae each contain two dendritic processes. Aspects of amphidial structure are described for the first time in Thoracostomopsidae. The external apertures are illustrated by scanning electron microscopy and the internal structure in sections by transmission electron microscopy. Two bundles of about 100 dendritic processes are enclosed by the amphidial sheath cell, as well as a group of four other dendritic processes. Two amphidial duct cells are present on each side of the head, but without containing dendritic processes. However, the ultrastructural description of the amphids is incomplete.

Effects of a 6-month exercise program pilot study on walking economy, peak physiological characteristics, and walking performance in patients with peripheral arterial disease.

The purpose of this study was to examine the effects of a 6-month exercise program on submaximal walking economy in individuals with peripheral arterial disease and intermittent claudication (PAD-IC). Participants (n = 16) were randomly allocated to either a control PAD-IC group (CPAD-IC, n = 6) which received standard medical therapy, or a treatment PAD-IC group (TPAD-IC; n = 10) which took part in a supervised exercise program. During a graded treadmill test, physiological responses, including oxygen consumption, were assessed to calculate walking economy during submaximal and maximal walking performance. Differences between groups at baseline and post-intervention were analyzed via Kruskal-Wallis tests. At baseline, CPAD-IC and TPAD-IC groups demonstrated similar walking performance and physiological responses. Postintervention, TPAD-IC patients demonstrated significantly lower oxygen consumption during the graded exercise test, and greater maximal walking performance compared to CPAD-IC. These preliminary results indicate that 6 months of regular exercise improves both submaximal walking economy and maximal walking performance, without significant changes in maximal walking economy. Enhanced walking economy may contribute to physiological efficiency, which in turn may improve walking performance as demonstrated by PAD-IC patients following regular exercise programs.