A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33

Background: Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features. Methodology/Principal Findings: We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. There does not appear to be a clinically recognizable constellation of dysmorphic features among individuals with subtelomeric 20q microdeletions. Conclusions/Significance: Based on genotype-phenotype correlation among individuals in this and previous studies, we discuss several possible candidate genes for specific clinical features, including ARFGAP1, CHRNA4 and KCNQ2 and neurodevelopmental deficits. Deletion of this region may play an important role in cognitive development

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

Correction to: Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

The original version of this article unfortunately contained a mistake

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

Environment scattering in GADRAS.

Radiation transport calculations were performed to compute the angular tallies for scattered gamma-rays as a function of distance, height, and environment. Green's Functions were then used to encapsulate the results a reusable transformation function. The calculations represent the transport of photons throughout scattering surfaces that surround sources and detectors, such as the ground and walls. Utilization of these calculations in GADRAS (Gamma Detector Response and Analysis Software) enables accurate computation of environmental scattering for a variety of environments and source configurations. This capability, which agrees well with numerous experimental benchmark measurements, is now deployed with GADRAS Version 18.2 as the basis for the computation of scattered radiation

Environment scattering in GADRAS.

Radiation transport calculations were performed to compute the angular tallies for scattered gamma-rays as a function of distance, height, and environment. Green's Functions were then used to encapsulate the results a reusable transformation function. The calculations represent the transport of photons throughout scattering surfaces that surround sources and detectors, such as the ground and walls. Utilization of these calculations in GADRAS (Gamma Detector Response and Analysis Software) enables accurate computation of environmental scattering for a variety of environments and source configurations. This capability, which agrees well with numerous experimental benchmark measurements, is now deployed with GADRAS Version 18.2 as the basis for the computation of scattered radiation

Characterization of X-ray generator beam profiles.

T to compute the radiography properties of various materials, the flux profiles of X-ray sources must be characterized. This report describes the characterization of X-ray beam profiles from a Kimtron industrial 450 kVp radiography system with a Comet MXC-45 HP/11 bipolar oil-cooled X-ray tube. The empirical method described here uses a detector response function to derive photon flux profiles based on data collected with a small cadmium telluride detector. The flux profiles are then reduced to a simple parametric form that enables computation of beam profiles for arbitrary accelerator energies

Characterization of X-ray generator beam profiles.

T to compute the radiography properties of various materials, the flux profiles of X-ray sources must be characterized. This report describes the characterization of X-ray beam profiles from a Kimtron industrial 450 kVp radiography system with a Comet MXC-45 HP/11 bipolar oil-cooled X-ray tube. The empirical method described here uses a detector response function to derive photon flux profiles based on data collected with a small cadmium telluride detector. The flux profiles are then reduced to a simple parametric form that enables computation of beam profiles for arbitrary accelerator energies

GADRAS-DRF user's manual.

The Gamma Detector Response and Analysis Software-Detector Response Function (GADRAS-DRF) application computes the response of gamma-ray detectors to incoming radiation. This manual provides step-by-step procedures to acquaint new users with the use of the application. The capabilities include characterization of detector response parameters, plotting and viewing measured and computed spectra, and analyzing spectra to identify isotopes or to estimate flux profiles. GADRAS-DRF can compute and provide detector responses quickly and accurately, giving researchers and other users the ability to obtain usable results in a timely manner (a matter of seconds or minutes)

GADRAS-DRF user's manual.

The Gamma Detector Response and Analysis Software-Detector Response Function (GADRAS-DRF) application computes the response of gamma-ray detectors to incoming radiation. This manual provides step-by-step procedures to acquaint new users with the use of the application. The capabilities include characterization of detector response parameters, plotting and viewing measured and computed spectra, and analyzing spectra to identify isotopes or to estimate flux profiles. GADRAS-DRF can compute and provide detector responses quickly and accurately, giving researchers and other users the ability to obtain usable results in a timely manner (a matter of seconds or minutes)