Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

Background: Joubert syndrome (JS) is a ciliopathy characterised by a distinctive brain malformation (the 'molar tooth sign'), developmental delay, abnormal eye movements and abnormal breathing pattern. Retinal dystrophy, cystic kidney disease, liver fibrosis and polydactyly are variably present, resulting in significant phenotypic heterogeneity and overlap with other ciliopathies. JS is also genetically heterogeneous, resulting from mutations in 13 genes.

A flipped spoon and chin prompt to increase mouth clean.

We treated the liquid refusal of a 15-month-old girl using 2 antecedent manipulations: flipped spoon and chin prompt. Use of the chin prompt in the absence of the flipped spoon failed to produce increases in mouth clean (a product measure of swallowing). By contrast, modest increases in mouth clean resulted from the implementation of the flipped spoon alone.

Spoon-to-cup fading as treatment for cup drinking in a child with intestinal failure.

We treated a child with intestinal failure who consumed solids on a spoon but not liquids from a cup. We used spoon-to-cup fading, which consisted of taping a spoon to a cup and then gradually moving the bowl of the spoon closer to the edge of the cup. Spoon-to-cup fading was effective for increasing consumption of liquids from a cup.

Control of breathing during exercise.

During exercise by healthy mammals, alveolar ventilation and alveolar-capillary diffusion increase in proportion to the increase in metabolic rate to prevent PaCO2 from increasing and PaO2 from decreasing. There is no known mechanism capable of directly sensing the rate of gas exchange in the muscles or the lungs; thus, for over a century there has been intense interest in elucidating how respiratory neurons adjust their output to variables which can not be directly monitored. Several hypotheses have been tested and supportive data were obtained, but for each hypothesis, there are contradictory data or reasons to question the validity of each hypothesis.

Redox reactivity of photogenerated osmium(II) complexes.

Powerful reductants [Os(II)(NH(3))(5)L](2+) (L = OH(2), CH(3)CN) can be generated upon ultraviolet excitation of relatively inert [Os(II)(NH(3))(5)(N(2))](2+) in aqueous and acetonitrile solutions. Reactions of photogenerated Os(II) complexes with methyl viologen to form methyl viologen radical cation and [Os(III)(NH(3))(5)L](3+) were monitored by transient absorption spectroscopy. Rate constants range from 4.

Implications of group III and IV muscle afferents for high-intensity endurance exercise performance in humans.

We investigated the influence of group III/IV muscle afferents on peripheral fatigue, central motor drive (CMD) and endurance capacity during high-intensity leg-cycling. In a double-blind, placebo-controlled design, seven males performed constant-load cycling exercise (318 ± 9 W; 80% of peak power output (W(peak))) to exhaustion under placebo conditions and with lumbar intrathecal fentanyl impairing spinal μ-opioid receptor-sensitive group III/IV muscle afferents. Peripheral fatigue was assessed via changes in pre- vs.

Development of a semi-permanent mascara technology.

Many women would like their mascara beauty benefits to be available all day, every day. One way to address this desire is through a semi-permanent mascara technology that provides full mascara benefits of long, dark beautiful lashes for multiple days. To date, products promising multi-day benefits have acted more as either 'lash dyes', providing a lash darkening benefit but failing to provide fullness and length, or waterproof mascaras that do not maintain the initial beauty look over multiple days.

The heterogeneity of obstructive sleep apnea (predominant obstructive vs pure obstructive apnea).

Study Objectives: To compare the breathing instability and upper airway collapsibility between patients with pure OSA (i.e. 100% of apneas are obstructive) and patients with predominant OSA (i.

US attitudes about banning menthol in cigarettes: results from a nationally representative survey.

Menthol is a cigarette flavoring that makes smoking more appealing to smokers. The US Food and Drug Administration (FDA) has regulatory authority to ban mentholated cigarettes to reduce youth uptake and encourage adult cessation. Survey findings indicate that more than half of all Americans (56.

Dosimetry tools and techniques for IMRT.

Intensity modulated radiation therapy (IMRT) poses a number of challenges for properly measuring commissioning data and quality assurance (QA) radiation dose distributions. This report provides a comprehensive overview of how dosimeters, phantoms, and dose distribution analysis techniques should be used to support the commissioning and quality assurance requirements of an IMRT program. The proper applications of each dosimeter are described along with the limitations of each system.

Intravenous contrast agent influence on thoracic computed tomography simulation investigated through a heterogeneous dose calculation method using 5-bulk densities.

Objective: Using 5-bulk-density heterogeneous dose calculation, we investigated whether contrast-enhanced (CE+) computed tomography (CT) will affect dose-calculation accuracy in the thoracic area.

Methods: We analyzed 17 radiation-oncology patients who underwent thoracic CE+ CTs. Full-resolution CT and 5-bulk-density plans were generated using an adaptive convolution algorithm.

The development and psychometric testing of the Satisfaction with Simulation Experience Scale.

Aim: This paper reports the development and psychometric testing of the Satisfaction with Simulation Experience Scale, an instrument designed to measure and compare differences in satisfaction levels between nursing students exposed to medium and high fidelity human patient simulation manikins.

Background: Student satisfaction is important to engaged and meaningful learning and it facilitates active and purposeful participation in simulation experiences. There are suggestions that student satisfaction may have some correlation with performance.

Has cyber technology produced a new group of peer aggressors?

Cyber technology provides a new venue for the expression of aggression. However, whether cyber technology has produced a new group of peer aggressors or simply allowed aggressive peers new tools to victimize others is unclear. This study sampled 1,672 adolescents to assess their engagement in cyber aggression.

The design and implementation of an Interactive Computerised Decision Support Framework (ICDSF) as a strategy to improve nursing students' clinical reasoning skills.

This paper describes the conceptual design and testing of an Interactive Computerised Decision Support Framework (ICDSF) which was constructed to enable student nurses to "think like a nurse." The ICDSF was based on a model of clinical reasoning. Teaching student nurses to reason clinically is important as poor clinical reasoning skills can lead to "failure-to rescue" of deteriorating patients.

Mechanism of H(2) evolution from a photogenerated hydridocobaloxime.

Proton transfer from the triplet excited state of brominated naphthol to a difluoroboryl bridged Co(I)-diglyoxime complex, forming Co(III)H, was monitored via transient absorption. The second-order rate constant for Co(III)H formation is in the range (3.5-4.

Interior point algorithms: guaranteed optimality for fluence map optimization in IMRT.

One of the most widely studied problems of the intensity-modulated radiation therapy (IMRT) treatment planning problem is the fluence map optimization (FMO) problem, the problem of determining the amount of radiation intensity, or fluence, of each beamlet in each beam. For a given set of beams, the fluences of the beamlets can drastically affect the quality of the treatment plan, and thus it is critical to obtain good fluence maps for radiation delivery. Although several approaches have been shown to yield good solutions to the FMO problem, these solutions are not guaranteed to be optimal.

Group III and IV muscle afferents contribute to ventilatory and cardiovascular response to rhythmic exercise in humans.

We investigated the role of somatosensory feedback on cardioventilatory responses to rhythmic exercise in five men. In a double-blind, placebo-controlled design, subjects performed the same leg cycling exercise (50/100/150/325 ± 19 W, 3 min each) under placebo conditions (interspinous saline, L(3)-L(4)) and with lumbar intrathecal fentanyl impairing central projection of spinal opioid receptor-sensitive muscle afferents. Quadriceps strength was similar before and after fentanyl administration.

Impact of pulmonary system limitations on locomotor muscle fatigue in patients with COPD.

We examined the effects of respiratory muscle work [inspiratory (W(r-insp)); expiratory (W(r-exp))] and arterial oxygenation (Sp(O(2))) on exercise-induced locomotor muscle fatigue in patients with chronic obstructive pulmonary disease (COPD). Eight patients (FEV, 48 +/- 4%) performed constant-load cycling to exhaustion (Ctrl; 9.8 +/- 1.