Publications by authors named "Susan Smalley"

In recent years, the development of sensor and wearable technologies have led to their increased adoption in clinical and health monitoring settings. One area that is in early, but promising, stages of development is the use of biosensors for therapeutic drug monitoring (TDM). Traditionally, TDM could only be performed in certified laboratories and was used in specific scenarios to optimize drug dosage based on measurement of plasma/blood drug concentrations.

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There is growing interest in the development of interventions (e.g., drugs, diets, dietary supplements, behavioral therapies, etc.

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Background: Personality traits are important factors with regard to the tendency to experience and response to stress. This study introduces and tests a new stress-related personality scale called the Virtual Inventory of Behavior and Emotions (VIBE).

Methods: Two samples totaling 5512 individuals (with 66% between the ages of 18 and 34) completed the VIBE along with other measures of personality, stress, mood, and well-being.

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Article Synopsis
  • The text states that there is a correction to an article with the DOI: 10.2196/12617.
  • It highlights the importance of accuracy in research publications.
  • Readers should refer to the updated version for the correct information.
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  • The study addresses the growing need for mental health care, highlighting how digital apps can provide personalized support for issues like stress and depression.
  • The research specifically focuses on how users of the Stop, Breathe & Think (SBT) app transition through various emotional states while using guided meditations tailored to their needs.
  • Analysis of data from over 650,000 users revealed that users' starting emotional states significantly affect their emotional transitions after engaging with recommended mindfulness activities.
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Background: The use of smartphone apps to monitor and deliver health care guidance and interventions has received considerable attention recently, particularly with regard to behavioral disorders, stress relief, negative emotional state, and poor mood in general. Unfortunately, there is little research investigating the long-term and repeated effects of apps meant to impact mood and emotional state.

Objective: We aimed to investigate the effects of both immediate point-of-intervention and long-term use (ie, at least 10 engagements) of a guided meditation and mindfulness smartphone app on users' emotional states.

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  • The study analyzed resting EEG profiles in 781 children (620 with ADHD, 161 control) to identify subgroups based on brain activity.
  • A five-class solution showed that four classes displayed elevated spectral power related to different behaviors and cognitive abilities.
  • The findings suggest that EEG profiles are diverse and may serve as better markers for ADHD treatment response rather than definitive diagnosis.
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Background: We previously hypothesized that poor task-directed sensory information processing should be indexed by increased weighting of right hemisphere (RH) biased attention and visuo-perceptual brain functions during task operations and have demonstrated this phenotype in ADHD across multiple studies, using multiple methodologies. However, in our recent distributed effects model of ADHD, we surmised that this phenotype is not ADHD specific, but rather more broadly reflective of any circumstance that disrupts the induction and maintenance of an emergent task-directed neural architecture. Under this view, increased weighting of RH-biased attention and visuo-perceptual brain functions is expected to generally index neurocognitive sets that are not optimized for task-directed thought and action, and when durable expressed, liability for ADHD.

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Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol. Clinical characteristics include juvenile cataracts, diarrhea, tendon xanthomas, cognitive impairment and other neurological manifestations. Early diagnosis is critical, because treatment with chenodeoxycholic acid may prevent neurological damage.

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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, caused by genetic deficiency of the 27-hydroxylase enzyme (encoded by CYP27A1). It plays a key role in cholesterol metabolism, especially in bile acid synthesis and in the 25-hydroxylation of vitamin D3 in the liver. Its deficiency causes reduced bile acid synthesis and tissue accumulation of cholestanol.

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Purpose: Poorly managed stress leads to detrimental physical and psychological consequences that have implications for individual and community health. Evidence indicates that U.S.

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Background: Metabolic Syndrome (MS) is highly prevalent among obese children and adolescents and is considered a predictor for the development of type 2 diabetes mellitus and cardiovascular disease. Obesity is associated with an increase in circulating levels of interleukins 6 (IL6) and 18 (IL18), which in turn would depend on polymorphisms of IL6, IL6R and IL18 genes.

Aim: To evaluate the association between genetic polymorphisms of IL6 (rs1800795, rs1800796 and rs1800797), IL6R (rs2228145) and IL18 (rs360719, rs187238 and rs204355) and MS and/or its components in a sample of Chilean obese children.

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Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by extreme reduction of white adipose tissue (WAT) mass. CGL type 1 is the most frequent form and is caused by mutations in AGPAT2. Genetic and clinical studies were performed in two affected sisters of a Chilean family.

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To study the association between the polymorphisms Arg462Gln and Asp541Glu from the RNASEL gene (1q25), and the polymorphisms rs620861, rs1447295, rs6983267, rs7837328 from the chromosome 8q24 with the risk of presenting prostate cancer (PCa) and its clinical characteristics in a Hispanic (Chilean) population. The study was performed on 21 control patients and 83 patients diagnosed with PCa. Polymorphisms were analysed from blood samples through real-time PCR by using TaqMan probes, and the genetic analysis was performed with the SNPStats program.

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This randomised controlled pilot trial tested a six-week mindfulness-based intervention in a sample of pregnant women experiencing high levels of perceived stress and pregnancy anxiety. Forty-seven women enrolled between 10 and 25 weeks gestation were randomly assigned to either a series of weekly Mindful Awareness Practices classes (n = 24) with home practice or to a reading control condition (n = 23). Hierarchical linear models of between-group differences in change over time demonstrated that participants in the mindfulness intervention experienced larger decreases from pre-to post-intervention in pregnancy-specific anxiety and pregnancy-related anxiety (PRA) than participants in the reading control condition.

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Objective: The aim of this study was to assess the association between melanocortin-4 receptor (MC4R) rs17782313 alleles with obesity and eating behavior scores in Chilean children.

Methods: A case-control study was conducted with 139 normal-weight and 238 obese children (ages 6-12 y). MC4R rs17782313 genotypes were determined by quantitative-polymerase chain reaction allelic-discrimination assays.

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Article Synopsis
  • * Using data from the Psychiatric Genomics Consortium, researchers found varying degrees of genetic relationships between disorders like schizophrenia, bipolar disorder, and major depressive disorder, indicating some shared genetic factors.
  • * The study suggests that understanding these shared genetic influences could help improve disorder classifications and lead to better treatments by exploring common biological causes.
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  • The study aims to analyze the theta to beta ratio (THBR) from EEG readings in a diverse group of 871 participants, focusing on ADHD and related factors.
  • Significant differences in THBR were found between adults with ADHD and those without, while youth showed no differences based on ADHD status.
  • The findings suggest that ADHD subtype and related psychiatric conditions influence THBR, highlighting the need for further research to clarify its significance in ADHD.
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Background: Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis) were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation.

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Attention-deficit/hyperactivity disorder (ADHD) is a childhood-onset neurodevelopmental disorder with a significant public-health impact. Previously, we described a candidate gene study in a population-based birth cohort that demonstrated an association with ADHD-affected males and the dopamine receptor D2 (DRD2). The current study evaluates potential associations of dopamine receptor genes and Cloninger temperament traits within this same sample.

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Objective: The purpose of the present study was to identify common genetic variants that are associated with human intelligence or general cognitive ability.

Method: We performed a genome-wide association analysis with a dense set of 1 million single-nucleotide polymorphisms (SNPs) and quantitative intelligence scores within an ancestrally homogeneous family sample of 656 individuals with at least one child affected by attention-deficit/hyperactivity disorder (ADHD).

Results: Haplotype trend regression analysis with sliding four-SNP windows identified haplotypes of genome-wide significance in genes involved in synaptic signaling (KIF16B; p = 1.

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Objective: Attention deficit hyperactivity disorder (ADHD) is a common, highly heritable psychiatric disorder. Because of its multifactorial etiology, however, identifying the genes involved has been difficult. The authors followed up on recent findings suggesting that rare copy number variants (CNVs) may be important for ADHD etiology.

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Attention deficit hyperactivity disorder (ADHD) is a common, heritable neuropsychiatric disorder of unknown etiology. We performed a whole-genome copy number variation (CNV) study on 1,013 cases with ADHD and 4,105 healthy children of European ancestry using 550,000 SNPs. We evaluated statistically significant findings in multiple independent cohorts, with a total of 2,493 cases with ADHD and 9,222 controls of European ancestry, using matched platforms.

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Autism spectrum disorder is a heterogeneous disorder of brain development with wide ranging cognitive deficits. Typically diagnosed before age 3, autism spectrum disorder is behaviorally defined but patients are thought to have protracted alterations in brain maturation. With longitudinal magnetic resonance imaging (MRI), we mapped an anomalous developmental trajectory of the brains of autistic compared with those of typically developing children and adolescents.

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  • The study investigates the connection between eating behaviors and childhood obesity among Chilean children aged 6-12.
  • The research involved 294 children categorized as obese, overweight, or normal-weight, using a culturally-adapted questionnaire to assess their eating behaviors.
  • Results indicate that higher enjoyment of food, emotional overeating, and food responsiveness are linked to obesity, while traits like satiety responsiveness and slowness in eating are associated with lower obesity rates.
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