Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother.

We present the cases of two brothers with ichthyosis, born to consanguineous parents, with the eldest having extracutaneous manifestations in the form of microphthalmia and corneal opacities causing complete blindness. Initially, we were faced with the question of whether the phenotype in this family was due to the effects of a single pleiotropic, presumably autosomal recessive gene manifesting as a syndromic form of ichthyosis, or whether there were multiple causal genes, and the ichthyosis was non-syndromic. Ultimately, clinical follow-up of the family, combined with research-based exome sequencing established a diagnosis of NIPAL4 autosomal recessive congenital ichthyosis in both brothers, but the ocular abnormalities causing blindness in the older brother were due to coexisting autosomal recessively inherited loss of function mutations in peroxidasin, the latter finding also seen in a sister unaffected by ichthyosis.

Construct Validity and Responsiveness of the Rapid Assessment of Physical Activity in Adults Living With HIV.

OBJECTIVE: To evaluate the construct validity and responsiveness of the Rapid Assessment of Physical Activity (RAPA) for measuring physical activity (PA) in adults living with HIV. DESIGN: Secondary analysis of an interrupted time-series intervention study. SETTING: Community-based fitness facility in Toronto, Canada. PARTICIPANTS: Sixty-seven adults (N=67) living with HIV (n=5 women; mean age, 51.8±11.6 years) with available baseline data to assess for construct validity of the RAPA, of which 50 (n=4 women; age, 53.2±11.4 years) had follow-up data to evaluate responsiveness. INTERVENTIONS: Two months of a community-based exercise intervention involving thrice weekly multicomponent exercises. MAIN OUTCOME MEASURES: We used a single-item PA questionnaire as a convergent outcome to the RAPA, while peak oxygen consumption, general health status, and number of concurrent health conditions were divergent outcomes. We tested 11 a priori hypotheses (6 construct validity, 5 responsiveness) using Spearman ρ, Wilcoxon signed-rank tests, Cohen's d, standardized effect size (SES), and standardized response mean (SRM). We considered acceptable construct validity and responsiveness if >75% of hypotheses were confirmed. RESULTS: All of the hypotheses (100%) for construct validity were confirmed. The RAPA demonstrated moderate correlations with the single-item PA questionnaire (ρ=0.61), and negligible correlations with divergent outcome measures (ρ=0.08-0.21). Two of the 5 hypotheses (40.0%) for responsiveness were confirmed. RAPA scores were significantly greater after 2 months of training (P<.001) and demonstrated a small to moderate effect size (d=0.50, SES=0.47, SRM=0.48). There was a low correlation between change in RAPA scores and change in single-item PA questionnaire scores (ρ=0.48). CONCLUSIONS: The RAPA demonstrated acceptable construct validity and poor responsiveness in adults living with HIV. Therefore, the RAPA can be used cross-sectionally but may be used in conjunction with other measures of PA for adults living with HIV.

Left Ventricular Structure and Function in Elite Swimmers and Runners.

Sport-specific differences in the left ventricle (LV) of land-based athletes have been observed; however, comparisons to water-based athletes are sparse. The purpose of this study was to examine differences in LV structure and function in elite swimmers and runners. Sixteen elite swimmers [23 (2) years, 81% male, 69% white] and 16 age, sex, and race matched elite runners participated in the study. All athletes underwent resting echocardiography and indices of LV dimension, global LV systolic and diastolic function, and LV mechanics were determined. All results are presented as swimmers vs. runners. Early diastolic function was lower in swimmers including peak early transmitral filling velocity [76 (13) vs. 87 (11) cm ⋅ s-1, p = 0.02], mean mitral annular peak early velocity [16 (2) vs. 18 (2) cm ⋅ s-1, p = 0.01], and the ratio of peak early to late transmitral filling velocity [2.68 (0.59) vs. 3.29 (0.72), p = 0.005]. The diastolic mechanics index of time to peak untwisting rate also occurred later in diastole in swimmers [12 (10)% diastole vs. 5 (4)% diastole, p = 0.01]. Cardiac output was larger in swimmers [5.8 (1.5) vs. 4.7 (1.2) L ⋅ min-1, p = 0.04], which was attributed to their higher heart rates [56 (6) vs. 49 (6) bpm, p < 0.001] given stroke volumes were similar between groups. All other indices of LV systolic function and dimensions were similar between groups. Our findings suggest enhanced early diastolic function in elite runners relative to swimmers, which may be attributed to faster LV untwisting.

An Assessment of Running Power as a Training Metric for Elite and Recreational Runners.

Aubry, RL, Power, GA, and Burr, JF. An assessment of running power as a training metric for elite and recreational runners. J Strength Cond Res 32(8): 2258-2264, 2018-Power, as a testing and training metric to quantify effort, is well accepted in cycling, but is not commonly used in running to quantify effort or performance. This study sought to investigate a novel training tool, the Stryd Running Power Meter, and the applicability of running power (and its individually calculated run mechanics) to be a useful surrogate of metabolic demand (V[Combining Dot Above]O2), across different running surfaces, within different caliber runners. Recreational (n = 13) and elite (n = 11) runners completed a test assessing V[Combining Dot Above]O2 at 3 different paces, while wearing a Stryd Power Meter on both an indoor treadmill and an outdoor track, to investigate relationships between estimated running power and metabolic demand. A weak but significant relationship was found between running power and V[Combining Dot Above]O2 considering all participants as a homogenous group (r = 0.29); however, when assessing each population individually, no significant relationship was found. Examination of the individual mechanical components of power revealed that a correlative decrease in V[Combining Dot Above]O2 representing improved efficiency was associated with decreased ground contact time (r = 0.56), vertical oscillation (r = 0.46), and cadence (r = 0.37) on the treadmill in the recreational group only. Although metabolic demand differed significantly between surfaces at most speeds, run power did not accurately reflect differences in metabolic cost between the 2 surfaces. Running power, calculated via the Stryd Power Meter, is not sufficiently accurate as a surrogate of metabolic demand, particularly in the elite population. However, in a recreational population, this training tool could be useful for feedback on several running dynamics known to influence running economy.