Glucocorticoid therapy in classic congenital adrenal hyperplasia: traditional and new treatment paradigms.

Introduction: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a rare genetic condition characterized by cortisol deficiency and excess adrenal androgens. CAH treatment is a lifelong balancing act between the need to reduce excess androgens, typically with supraphysiologic glucocorticoid (GC) doses, and concerns about potentially serious GC-related adverse events. Tradeoffs between the consequences of excess androgens versus GCs must be constantly reassessed throughout each patient's lifetime, based on current clinical needs and treatment goals.

Topological state-space estimation of functional human brain networks.

We introduce an innovative, data-driven topological data analysis (TDA) technique for estimating the state spaces of dynamically changing functional human brain networks at rest. Our method utilizes the Wasserstein distance to measure topological differences, enabling the clustering of brain networks into distinct topological states. This technique outperforms the commonly used k-means clustering in identifying brain network state spaces by effectively incorporating the temporal dynamics of the data without the need for explicit model specification.

Does the New National Cervical Screening Programme Guideline Detect Cases of High-Grade Squamous Intraepithelial Lesions That Previously Would Have Been Missed?

Objective: The aim of this study was to determine the number of patients undergoing large loop excision of the transformation zone (LLETZ), for biopsy-confirmed high-grade squamous intraepithelial lesions (HSIL), where the original cervical screening test (CST) reported oncogenic human papillomavirus (HPV) and negative liquid-based cytology (LBC). This reflects the number of patients where a LLETZ procedure would not have occurred under the previous guideline.

Methods: Retrospective observational chart review of all patients (n = 477) who underwent LLETZ procedure in a single tertiary unit over a 36-month period.

Incidental Findings from 16,400 Brain MRI Examinations of Research Volunteers.

Background And Purpose: Incidental findings are discovered in neuroimaging research, ranging from trivial to life-threatening. We describe the prevalence and characteristics of incidental findings from 16,400 research brain MRIs, comparing spontaneous detection by nonradiology scanning staff versus formal neuroradiologist interpretation.

Materials And Methods: We prospectively collected 16,400 brain MRIs (7782 males, 8618 females; younger than 1 to 94 years of age; median age, 38 years) under an institutional review board directive intended to identify clinically relevant incidental findings.

White matter microstructure predicts individual differences in infant fear (But not anger and sadness).

We examine neural correlates of discrete expressions of negative emotionality in infants to determine whether the microstructure of white matter tracts at 1 month of age foreshadows the expression of specific negative emotions later in infancy. Infants (n = 103) underwent neuroimaging at 1-month, and mothers reported on infant fear, sadness, and anger at 6, 12, and 18 months using the Infant Behavior Questionnaire-Revised. Levels and developmental change in fear, sadness, and anger were estimated from mother reports.

Childhood inhibition predicts adolescent social anxiety: Findings from a longitudinal twin study.

An enduring issue in the study of mental health is identifying developmental processes that explain how childhood characteristics progress to maladaptive forms. We examine the role that behavioral inhibition (BI) has on social anxiety (SA) during adolescence in 868 families of twins assessed at ages 8, 13, and 15 years. Multimodal assessments of BI and SA were completed at each phase, with additional measures (e.

Structural Brain Correlates of Childhood Inhibited Temperament: An ENIGMA-Anxiety Mega-analysis.

Temperament involves stable behavioral and emotional tendencies that differ between individuals, which can be first observed in infancy or early childhood and relate to behavior in many contexts and over many years. One of the most rigorously characterized temperament classifications relates to the tendency of individuals to avoid the unfamiliar and to withdraw from unfamiliar people, objects, and unexpected events. This temperament is referred to as behavioral inhibition or inhibited temperament (IT).

Pediatric assessment of Research Domain Criteria positive and negative valence systems: Partial genetic mediation of links to problem behaviors.

We use the highly structured Laboratory-Temperament Assessment Battery to measure behaviors that map onto the Research Domain Criteria (RDoC) positive and negative valence systems. Using a birth record-based sample (N = 1374 individual twins; mean age 7.7 years), we created composites of observed behavior reflecting the RDoC constructs Reward Responsiveness, Frustrative Nonreward, Loss, and Fear.

GENETIC AND ENVIRONMENTAL CONTRIBUTIONS TO POSITIVE AFFECT: INSIGHTS FROM ADOLESCENT TWINS.

Disturbances in positive affect and reductions in social reward/interpersonal pleasure are common across a range of clinical disorders and are often related. We examined the relationship between the Anticipatory and Consummatory Interpersonal Pleasure Scale (ACIPS-A), and other measures of positive affect in adolescents in a genetically informative research design. The sample consisted of 177 MZ and 136 same sex DZ twins drawn from a study of adolescent twins (M = 16.

Reduction of Motion Artifacts in Functional Connectivity Resulting from Infrequent Large Motion.

Subject head motion is an ongoing challenge in functional magnetic resonance imaging, particularly in the estimation of functional connectivity. Infants (1-month old) scanned during nonsedated sleep often have occasional but large movements of several millimeters separated by periods with relatively little movement. This results in residual signal changes even after image realignment and can distort estimates of functional connectivity.

Alzheimer's Disease: A Decreased Cerebral Blood Flow to Critical Intraneuronal Elements Is the Cause.

Normally, an adequate cerebral blood flow arrives at individual cerebral neurons in which the blood flow augments activity of intraneuronal mitochondria, which is the source of intraneuronal ATP, the energy source of cerebral neurons. With a decrease in cerebral blood flow that can occur as a function of normal aging phenomena, less blood results in decreased mitochondria, decreased ATP, and a decrease in neuronal activity, which can eventually lead to Alzheimer's disease. It has been found that placement of the omentum directly on an Alzheimer's disease brain can lead to improved cognitive function.

The Effects of Host Availability and Fitness on Aedes albopictus Blood Feeding Patterns in New York.

Aedes albopictus is a competent vector of numerous pathogens, representing a range of transmission cycles involving unique hosts. Despite the important status of this vector, variation in its feeding patterns is poorly understood. We examined the feeding patterns of Ae.

Are clinicians using routinely collected data to drive practice improvement? A cross-sectional survey.

Background: Clinical registry participation is a measure of healthcare quality. Limited knowledge exists on Australian hospitals' participation in clinical registries and whether this registry data informs quality improvement initiatives.

Objective: To identify participation in clinical registries, determine if registry data inform quality improvement initiatives, and identify registry participation enablers and clinicians' educational needs to improve use of registry data to drive practice change.

Genetic and environmental influences of variation in diffusion MRI measures of white matter microstructure.

Quantitative neuroimaging studies in twin samples can investigate genetic contributions to brain structure and microstructure. Diffusion tensor imaging (DTI) studies with twin samples have shown moderate to high heritability in white matter microstructure. This study investigates the genetic and environmental contributions of another widely used diffusion MRI model not yet applied to twin studies, neurite orientation dispersion and density imaging (NODDI).

The role of Kingella kingae in pre-school aged children with bone and joint infections.

Objectives: The Pre-school Osteoarticular Infection (POI) study aimed to describe the burden of disease, epidemiology, microbiology and treatment of acute osteoarticular infections (OAI) and the role of Kingella kingae in these infections.

Methods: Information about children 3-60 months of age who were hospitalized with an OAI to 11 different hospitals across Australia and New Zealand between January 2012 and December 2016 was collected retrospectively.

Results: A total of 907 cases (73%) were included.

Elucidating the Links Between Mother and Father Alcohol Use Disorder and Adolescent Externalizing Psychopathology: A Test of Transmission Specificity Within Competing Factor Structures and Genetic and Environmental Liabilities.

Parental alcohol use disorder (AUD) is a substantiated risk factor for adolescent externalizing psychopathology; however, the level of specificity at which risk from parental AUD is transmitted to adolescent offspring should be interrogated further. The current study modeled competing factor structures of psychopathology in a sample of 502 adolescent twin pairs (M = 13.24 years) and tested associations with mother and father AUD.

Characterizing the Performance of a Compact BTEX GC-PID for Near-Real Time Analysis and Field Deployment.

In this study, we test the performance of a compact gas chromatograph with photoionization detector (GC-PID) and optimize the configuration to detect ambient (sub-ppb) levels of benzene, toluene, ethylbenzene, and xylene isomers (BTEX). The GC-PID system was designed to serve as a relatively inexpensive (~10 k USD) and field-deployable air toxic screening tool alternative to conventional benchtop GCs. The instrument uses ambient air as a carrier gas and consists of a Tenax-GR sorbent-based preconcentrator, a gas sample valve, two capillary columns, and a photoionization detector (PID) with a small footprint and low power requirement.

Local translation in nuclear condensate amyloid bodies.

Biomolecular condensates concentrate molecules to facilitate basic biochemical processes, including transcription and DNA replication. While liquid-like condensates have been ascribed various functions, solid-like condensates are generally thought of as amorphous sites of protein storage. Here, we show that solid-like amyloid bodies coordinate local nuclear protein synthesis (LNPS) during stress.

Sugar feeding patterns of New York Aedes albopictus mosquitoes are affected by saturation deficit, flowers, and host seeking.

Background: Sugar feeding is an important behavior which may determine vector potential of female mosquitoes. Sugar meals can reduce blood feeding frequency, enhance survival, and decrease fecundity, as well as provide energetic reserves to fuel energy intensive behaviors such as mating and host seeking. Sugar feeding behavior can be harnessed for vector control (e.