Publications by authors named "Theresa Wilson"

Purpose: Discrepancies exist between the need to lock food away and satiety scores in the Smith-Magenis syndrome (SMS) population. This study sought to uncover food-related behaviors within this unique group of individuals.

Methods: Caregivers ( = 24) representing 21 individuals with SMS, recruited from the Parents and Researchers Interested in SMS national meeting and social media platforms, participated in semistructured interviews.

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Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional evidence of pathogenicity often results in variants being overlooked as potentially causative, particularly in individuals with undifferentiated phenotypes. Consequently, many neurometabolic conditions, including those in the GABA (gamma-aminobutyric acid) catabolism pathway, are underdiagnosed.

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De novo deleterious and heritable biallelic mutations in the DNA binding domain (DBD) of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of disorders termed DEAF1-associated neurodevelopmental disorders (DAND). RNA-sequencing using hippocampal RNA from mice with conditional deletion of Deaf1 in the central nervous system indicate that loss of Deaf1 activity results in the altered expression of genes involved in neuronal function, dendritic spine maintenance, development, and activity, with reduced dendritic spines in hippocampal regions. Since DEAF1 is not a dosage-sensitive gene, we assessed the dominant negative activity of previously identified de novo variants and a heritable recessive DEAF1 variant on selected DEAF1-regulated genes in 2 different cell models.

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Background: Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder that includes obesity and food-seeking/satiety-related behaviors.

Aims: This study examined associations between food-related/hyperphagic behaviors, weight, and medication use in individuals with SMS.

Methods/procedures: Caregivers of individuals with SMS in the Parents and Researchers Interested in SMS (PRISMS) Patient Registry completed a demographic/medication questionnaire, the Hyperphagia Questionnaire for Clinical Trials, and the Food Related Problems Questionnaire.

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Background: Due to the limitations of the current routine diagnostic methods, low-level somatic mosaicism with variant allele fraction (VAF) < 10% is often undetected in clinical settings. To date, only a few studies have attempted to analyze tissue distribution of low-level parental mosaicism in a large clinical exome sequencing (ES) cohort.

Methods: Using a customized bioinformatics pipeline, we analyzed apparent de novo single-nucleotide variants or indels identified in the affected probands in ES trio data at Baylor Genetics clinical laboratories.

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Purpose: The goal of this study was to assess the scale of low-level parental mosaicism in exome sequencing (ES) databases.

Methods: We analyzed approximately 2000 family trio ES data sets from the Baylor-Hopkins Center for Mendelian Genomics (BHCMG) and Baylor Genetics (BG). Among apparent de novo single-nucleotide variants identified in the affected probands, we selected rare unique variants with variant allele fraction (VAF) between 30% and 70% in the probands and lower than 10% in one of the parents.

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To further assess the scale and level of parental somatic mosaicism, we queried the CMA database at Baylor Genetics. We selected 50 unrelated families where clinically relevant apparent de novo CNV-deletions were found in the affected probands. Parental blood samples screening using deletion junction-specific PCR revealed four parents with somatic mosaicism.

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Objective: To evaluate behavior modification of diet and parent feeding practices in childhood obesity interventions.

Design: Secondary analysis of randomized, controlled trial comparing Mind, Exercise, Nutrition … Do It! (MEND2-5 and MEND/Coordinated Approach to Child Health [CATCH6-12]) vs Next Steps at baseline and 3 and 12 months.

Setting: Austin and Houston, TX.

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Objective: This randomized controlled trial was conducted to determine comparative efficacy of a 12-month community-centered weight management program (MEND2-5 for ages 2-5 or MEND/CATCH6-12 for ages 6-12) against a primary care-centered program (Next Steps) in low-income children.

Methods: Five hundred forty-nine Hispanic and black children (BMI ≥ 85th percentile), stratified by age groups (2-5, 6-8, and 9-12 years), were randomly assigned to MEND2-5 (27 contact hours)/MEND/CATCH6-12 (121.5 contact hours) or Next Steps (8 contact hours).

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Unlabelled: Term born infants are predisposed to human rhinovirus (HRV) lower respiratory tract infections (LRTI) by reduced neonatal lung function and genetic susceptibility. Our aim was to investigate whether prematurely born infants were similarly predisposed to HRV LRTIs or any other viral LRTIs. Infants born less than 36 weeks of gestational age were recruited.

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Background: The absolute energy cost of activities in children increase with age due to greater muscle mass and physical capability associated with growth and developmental maturation; however, there is a paucity of data in preschool-aged children. Study aims were 1) to describe absolute and relative energy cost of common activities of preschool-aged children in terms of VO2, energy expenditure (kilocalories per minute) and child-specific metabolic equivalents (METs) measured by room calorimetry for use in the Youth Compendium of Physical Activity, and 2) to predict METs from age, sex and heart rate (HR).

Methods: Energy expenditure (EE), oxygen consumption (VO2), HR, and child-METs of 13 structured activities were measured by room respiration calorimetry in 119 healthy children, ages 3 to 5 years.

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Objective: The impact of physical activity patterns and sleep duration on growth and body composition of preschool-aged children remains unresolved. Aims were (1) to delineate cross-sectional associations among physical activity components, sleep, total energy expenditure (TEE), and body size and composition; and (2) to determine whether physical activity components, sleep, and TEE predict 1-year changes in body size and composition in healthy preschool-aged children.

Methods: Anthropometry, body composition, accelerometry, and TEE by doubly labeled water were measured at baseline; anthropometry and body composition were repeated 1 year later (n = 111).

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Objective: Energetic adaptations induced by bariatric surgery have not been studied in adolescents or for extended periods postsurgery. Energetic, metabolic, and neuroendocrine responses to Roux-en-Y gastric bypass (RYGB) surgery were investigated in extremely obese adolescents.

Methods: At baseline and at 1.

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Unlabelled: The aim of this study was to determine whether respiratory syncytial virus (RSV) and other viral lower respiratory tract infections (LRTI) in prematurely born infants were associated with similar effects on healthcare utilisation and related cost of care in the second compared to the first year after birth. Thirteen infants who had RSV LRTIs (RSV), 21 who had other viral LRTIs (other viral) and 25 had no viral LRTIs (no LRTI) were prospectively followed. Nasopharyngeal aspirates were collected whenever an infant had an LRTI regardless of whether it was in the hospital or in the community.

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Unlabelled: Our aim was to determine whether viral lower respiratory tract infections (LRTIs) adversely affect prematurely born infants' lung function at follow up. Seventy infants, median gestational age 34 (range, 24-35) weeks were prospectively followed; 32 had an RSV (n = 14) or another respiratory viral (n = 18) LRTI (viral LRTI group) and 38 had no LRTI (no LRTI group). Six of the viral LRTI and five of the no LRTI group had been hospitalised.

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Background: Dietary Reference Intakes (DRI) for energy aim to balance energy expenditure at a level of physical activity consistent with health and support adequate growth in children. DRIs were derived from total energy expenditure (TEE) measured by using the doubly labeled water (DLW) method; however, the database was limited in the 3-5-y-old range.

Objective: We reexamined the DRI for energy for preschool-age children.

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Unlabelled: Human rhinoviruses (HRVs) are a common cause of lower respiratory tract infections (LRTIs) and are associated with chronic respiratory morbidity. Our aim was to determine whether HRV species A or C were associated with chronic respiratory morbidity and increased health care utilisation in prematurely born infants. A number of 153 infants with a median gestational age of 34 (range 23-35) weeks were prospectively followed.

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Unlabelled: The aim of this study was to assess whether prematurely born infants have a genetic predisposition to respiratory syncytial virus (RSV) infection-related respiratory morbidity. One hundred and forty-six infants born at less than 36 weeks of gestation were prospectively followed. Nasopharygeal aspirates were obtained on every occasion the infants had a lower respiratory tract infection (LRTI) regardless of need for admission.

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Our aim was to determine whether rhinovirus (RV) lower respiratory tract infections (LRTIs) in prematurely born infants increase health-related cost of care during infancy. 153 infants born at <36 weeks of gestation were prospectively followed to 1 year. Cost of care was calculated from the National Health Service reference costing scheme and healthcare utilisation determined by examining hospital/general practitioner records.

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In an earlier report, we showed that a 2-week, residential summer camp (Kamp K'aana) led to improved body weight, body mass index, body mass index z score, and self-esteem among obese children. To assess whether improvements in body weight and self-esteem translate into improvement in body fat and weight-related quality of life, we measured the changes in body fat by bioimpedance and quality of life by Impact of Weight on Quality of Life instrument on 42 multiethnic obese children who took part in our Kamp K'aana program. Significant reduction in body fat was detected with significant improvements in the weight-related quality of life scores.

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Aim: To assess nutrition, physical activity and healthful knowledge in obese children with biopsy-proven non-alcoholic steatohepatitis (NASH or NA) compared to children without liver disease.

Methods: Children with biopsy-proven NASH comprised the NASH group. Age, sex and ethnicity matched control groups consisted of obese (OB) and lean (CO) children with no liver disease.

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The hospitalization rate for pandemic influenza A (H1N1)v 2009 of 150 prospectively followed, prematurely born infants did not differ significantly from that of term-born infants from the same geographical area (0.7% vs. 0.

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Objective: Prematurely born infants who develop respiratory syncytial virus (RSV) lower respiratory tract infections (LRTIs) have lung function abnormalities at follow-up. The aim of this study was to determine whether prematurely born infants who developed symptomatic RSV, or other viral LRTI(s), had poorer premorbid lung function than infants who did not develop LRTIs during the RSV season.

Methods: Lung function (functional residual capacity (FRC), compliance (Crs) and resistance (Rrs) of the respiratory system) was measured at 36 weeks postmenstrual age.

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Species differences in microsomal binding were evaluated for 43 drug molecules in human, monkey, dog and rat liver microsomes, using a fixed concentration of microsomal protein. The dataset included 32 named drugs and 11 proprietary compounds encompassing a broad spectrum of physicochemical properties (11 acids, 24 bases, 8 neutral, c log D -1 to 7, MW 200 to 700 and free fraction <0.001 to 1).

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