Survival and Neurocognitive Outcomes After Noncardiac Illness Indications for Extracorporeal Membrane Oxygenation in Young Children.

This referral center prospective inception cohort study included 84 consecutive children having extracorporeal membrane oxygenation (ECMO) for noncardiac illness indications at the age of less than 6 years from 2000 to 2017. Long-term outcomes were survival, neurocognitive (Wechsler Preschool and Primary Scales of Intelligence) and functional (General Adaptive Composite) scores, and disability, with optimal outcome defined as scores greater than or equal to 80 and without disability. Age at cannulation was 551 (standard deviation [SD] = 571) days, 40 (47.

Characterisation and reproducibility of the HumanMethylationEPIC v2.0 BeadChip for DNA methylation profiling.

Background: The Illumina family of Infinium Methylation BeadChip microarrays has been widely used over the last 15 years for genome-wide DNA methylation profiling, including large-scale and population-based studies, due to their ease of use and cost effectiveness. Succeeding the popular HumanMethylationEPIC BeadChip (EPICv1), the recently released Infinium MethylationEPIC v2.0 BeadChip (EPICv2) claims to extend genomic coverage to more than 935,000 CpG sites.

Cortical circuitry mediating interareal touch signal amplification.

Sensory cortical areas are organized into topographic maps representing the sensory epithelium. Interareal projections typically connect topographically matched subregions across areas. Because matched subregions process the same stimulus, their interaction is central to many computations.

Learning in a sensory cortical microstimulation task is associated with elevated representational stability.

Sensory cortical representations can be highly dynamic, raising the question of how representational stability impacts learning. We train mice to discriminate the number of photostimulation pulses delivered to opsin-expressing pyramidal neurons in layer 2/3 of primary vibrissal somatosensory cortex. We simultaneously track evoked neural activity across learning using volumetric two-photon calcium imaging.

Cortical circuitry mediating inter-areal touch signal amplification.

Sensory cortical areas are often organized into topographic maps which represent the sensory epithelium. Individual areas are richly interconnected, in many cases via reciprocal projections that respect the topography of the underlying map. Because topographically matched cortical patches process the same stimulus, their interaction is likely central to many neural computations.

Amplified cortical neural responses as animals learn to use novel activity patterns.

Cerebral cortex supports representations of the world in patterns of neural activity, used by the brain to make decisions and guide behavior. Past work has found diverse, or limited, changes in the primary sensory cortex in response to learning, suggesting that the key computations might occur in downstream regions. Alternatively, sensory cortical changes may be central to learning.

Non-Intentional N-Acetylcysteine Overdose Associated with Cerebral Edema and Brain Death.

N-acetylcysteine is the established treatment for acetaminophen toxicity. This medication's complex dosing schedule engenders a high incidence of medication errors. While nuisance side effects are common, only rare case reports describe serious outcomes associated with N-acetylcysteine administration, all of which take place in the setting of non-intentional N-acetylcysteine overdose.

No longer "non-traditional": Genetic counselors' perceptions towards laboratory and industry roles.

A growing percentage of genetic counselors are employed in roles that do not involve direct patient care, commonly in commercial diagnostic laboratories. This study aimed to assess characteristics of laboratory and industry (LI) roles and perceptions of the genetic counseling community's views towards such roles. Members of NSGC and ABGC were invited to participate in this study.

Elective genomic testing: Practice resource of the National Society of Genetic Counselors.

Genetic counseling for patients who are pursuing genetic testing in the absence of a medical indication, referred to as elective genomic testing (EGT), is becoming more common. This type of testing has the potential to detect genetic conditions before there is a significant health impact permitting earlier management and/or treatment. Pre- and post-test counseling for EGT is similar to indication-based genetic testing.

Columnar Lesions in Barrel Cortex Persistently Degrade Object Location Discrimination Performance.

Primary sensory cortices display functional topography, suggesting that even small cortical volumes may underpin perception of specific stimuli. Traditional loss-of-function approaches have a relatively large radius of effect (>1 mm), and few studies track recovery following loss-of-function perturbations. Consequently, the behavioral necessity of smaller cortical volumes remains unclear.

The different faces of mental illness stigma: Systematic variation of stereotypes, prejudice and discrimination by type of illness.

Mental illness (MI) stigma has been characterized as multi-dimensional including problems of knowledge (stereotypes), attitudes (prejudice) and behavior (discrimination); however, most research practice is predominantly applying unidimensional behavioral measures such as social distance scales. Moreover, specific types of MIs and different forms of discriminatory behaviors are not being differentiated. The Stereotype Content Model predicts that group stereotypes (warmth, competence) are linked with different forms of discriminatory behaviors (harm or facilitation) via emotional prejudices (pity, envy, contempt).

A Comparison of Wearable Tonometry, Photoplethysmography, and Electrocardiography for Cuffless Measurement of Blood Pressure in an Ambulatory Setting.

Objective: While non-invasive, cuffless blood pressure (BP) measurement has demonstrated relevancy in controlled environments, ambulatory measurement is important for hypertension diagnosis and control. We present both in-lab and ambulatory BP estimation results from a diverse cohort of participants.

Methods: Participants (N=1125, aged 21-85, 49.

Analysis of the reported use of practice-based competencies by North American genetic counselors during the COVID-19 pandemic.

Genetic counseling services changed due to the COVID-19 pandemic. Many genetic counselors (GCs) moved from in-person to telehealth services. Others were redeployed by choice or necessity, using their expertise to provide COVID-19 care and education.

Results of the Genetic Counselor SARS-CoV-2 Impact Survey from the National Society of Genetic Counselors: Progress and penalty during the COVID-19 pandemic.

The Genetic Counselor SARS-CoV-2 Impact Survey (GCSIS) describes the impact of the pandemic on genetic counselors and genetic counseling services. With this information, the National Society of Genetic Counselors (NSGC) can better: (1) support advocacy and access efforts for genetic counseling services at both federal- and state-level; (2) promote effective billing and reimbursement for genetic counseling services provided via telemedicine; and (3) make decisions about how to best support genetic counselors. The survey was hosted on a novel data collection and analysis platform from LunaDNA and was open to all genetic counselors (n = 5,531 based on professional society membership).

Machine learning for automatic identification of thoracoabdominal asynchrony in children.

Background: The current methods for assessment of thoracoabdominal asynchrony (TAA) require offline analysis on the part of physicians (respiratory inductance plethysmography (RIP)) or require experts for interpretation of the data (sleep apnea detection).

Methods: To assess synchrony between the thorax and abdomen, the movements of the two compartments during quiet breathing were measured using pneuRIP. Fifty-one recordings were obtained: 20 were used to train a machine-learning (ML) model with elastic-net regularization, and 31 were used to test the model's performance.

Daily physical activity and alcohol use among young adults.

Evidence suggests that physical activity and alcohol use are positively related among young adults. Two studies have examined daily relations, and results have shown conflicting findings. We examined relations between physical activity and alcohol use at both within- and between-individual levels and investigated moderators of the relation at both levels.

Diagnostic differences in respiratory breathing patterns and work of breathing indices in children with Duchenne muscular dystrophy.

Rationale: Pulmonary function testing (PFT) provides diagnostic information regarding respiratory physiology. However, many forms of PFT are time-intensive and require patient cooperation. Respiratory inductance plethysmography (RIP) provides thoracoabdominal asynchrony (TAA) and work of breathing (WOB) data.

Elbow Flexion Assist Orthosis for Arthrogryposis.

Introduction: People with arthrogryposis multiplex congenita (AMC) often have muscle weakness in the biceps that makes elbow flexion difficult. An elbow-flexion assist orthosis was designed using the force of springs, combined with a sliding joint, to apply appropriate elbow torque to aid a user in lifting her hand to her mouth. The sliding joint allows an increasing elbow torque despite a decreasing spring force.

Vaped, Not Stirred: Vaporized Alcohol Knowledge, Use, and Susceptibility.

Vaporized alcohol is an alternative method of ingesting alcohol that has received significant attention in the press. However, research on vaporized alcohol to date is limited. The current study sought to assess vaporized alcohol knowledge, use, and future susceptibility in diverse sample of young adults in the Southwest United States.

Age-related ranges of respiratory inductance plethysmography (RIP) reference values for infants and children.

The current noninvasive method for respiratory monitoring is respiratory inductance plethysmography (RIP); two bands are connected, one each to the chest and the abdomen, to measure the breathing pattern. RIP requires post hoc analysis to calculate indices such as respiratory rate, phase angle, labored breathing index, and percent of rib cage contribution to breathing. Clinical studies have provided patient RIP values and age-matched normal values, but they lack global evaluation of normative data for a wide age range of pediatric subjects.

Measures of respiratory inductance plethysmography (RIP) in children with neuromuscular disease.

Background: Pulmonary function testing (PFT) is essential for the clinical assessment of respiratory problems. Respiratory inductance plethysmography (RIP) is a non-invasive method of PFT requiring minimal patient cooperation. RIP measures the volumetric change in the ribcage and abdomen, from which work of breathing (WOB) indices are derived.

Identification of a novel GREM1 duplication in a patient with multiple colon polyps.

Hereditary mixed polyposis syndrome (HMPS) is a hereditary syndrome that is characterized by multiple colon polyps of mixed pathologic subtypes and an increased risk for colorectal cancer. A 40 kb duplication in the 5' regulatory region of the GREM1 gene was recently found to be the causal mutation in a subset of Ashkenazi Jewish families with HMPS. Given this discovery, the GREM1 5' regulatory region is now analyzed on many different multi-gene cancer panels, however the data on duplications distinct from the 40 kb duplication remains minimal.

The effects of fipronil and the photodegradation product fipronil desulfinyl on growth and gene expression in juvenile blue crabs, Callinectes sapidus, at different salinities.

Endocrine disrupting compounds (EDCs) are now widely established to be present in the environment at concentrations capable of affecting wild organisms. Although many studies have been conducted in fish, less is known about effects in invertebrates such as decapod crustaceans. Decapods are exposed to low concentrations of EDCs that may cause infertility, decreased growth, and developmental abnormalities.

Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

Purpose: Many women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a subset has hereditary susceptibility to cancer and requires further testing. We sought to identify specific groups who remain at high risk and evaluate whether they should be offered multi-gene panel testing.

Revisiting Suppression of Interspecies Hybrid Male Lethality in Nematodes.

Within the nematode genus , and are among the most closely related species known. They differ in sexual mode, with retaining the ancestral XO male-XX female outcrossing system, while recently evolved self-fertility and an XX-biased sex ratio. Wild-type and can produce fertile hybrid XX female progeny, but XO progeny are either 100% inviable (when is the mother) or viable but sterile (when is the mother).