Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis.

Background: Niemann-Pick Disease Type C (NPC) is an ultra-rare disorder characterized by progressive psychiatric and neurologic manifestations, with late infantile, juvenile, and adolescent/adult presentations. We examined morphological properties of the choroid plexus, a protective blood-cerebrospinal fluid barrier, in NPC, and their relationship with neurodegeneration, clinical status, and circulatory markers. This study also determined whether choroid plexus morphology differentiates between NPC and more prevalent illnesses, schizophrenia (SZ) and bipolar disorder (BD), which have overlapping psychiatric symptoms with adolescent and adult-onset NPC and are associated with misdiagnosis.

Neuropsychological assessment of adults with phenylketonuria using the NIH toolbox.

Among researchers and clinicians, there is a call for the development and validation of new measures to better assess and characterize neurocognitive difficulties associated with early-treated phenylketonuria (ETPKU) and other metabolic disorders. The NIH Toolbox represents a relatively new computer-administered assessment tool and provides a sampling of performance across multiple cognitive domains, several of which (e.g.

Proteomics based markers of clinical pain severity in juvenile idiopathic arthritis.

Introduction: Juvenile idiopathic arthritis (JIA) is a cluster of autoimmune rheumatic diseases occurring in children 16 years of age or less. While it is well-known that pain may be experienced during inflammatory and non-inflammatory states, much remains ambiguous regarding the molecular mechanisms that may drive JIA pain. Thus, in this pilot study, we explored the variability of the serum proteomes in relation to pain severity in a cohort of JIA patients.

Targeting neurological abnormalities in lysosomal storage diseases.

Central nervous system (CNS) abnormalities and corresponding neurological and psychiatric symptoms are frequently observed in lysosomal storage disorders (LSDs). The genetic background of individual LSDs is indeed unique to each illness. However, resulting defective lysosomal function within the CNS can transition normal cellular processes (i.

Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.

Phenylketonuria (PKU) is a rare disease caused by biallelic mutations in the PAH gene that result in an inability to convert phenylalanine (Phe) to tyrosine, elevated blood Phe levels and severe neurological complications if untreated. Most patients are unable to adhere to the protein-restricted diet, and thus do not achieve target blood Phe levels. We engineered a strain of E.

A multidisciplinary assessment of pain in juvenile idiopathic arthritis.

Introduction: Pain is prevalent in juvenile idiopathic arthritis (JIA). Unknowns regarding the biological drivers of pain complicate therapeutic targeting. We employed neuroimaging to define pain-related neurobiological features altered in JIA.

First 1.5 years of pegvaliase clinic: Experiences and outcomes.

We present Boston Children's Hospital's clinic model for pegvaliase therapy in adults with phenylketonuria (PKU) and clinical outcomes in 46 patients over the first 1.5 years of commercial therapy. Approximately 70% (18/26) of patients starting pegvaliase achieved blood phenylalanine (Phe) <360 μmol/L, with an average of a 68 ± 24% decrease in blood Phe from baseline.

Maternal Depressive Symptoms and At-Risk Young Children's Internalizing Problems: The Moderating Role of Mothers' Positivity.

Maternal depressive symptoms predict negative child behaviors, including internalizing problems. However, protective factors, such as positive emotionality and positive parenting behaviors, may play an important a role in attenuating associations between maternal depressive symptoms and child behavior problems. This manuscript presents two studies that examined buffers of links between maternal depressive symptoms and child internalizing problems.

Temperament, personality, and quality of life in pediatric cancer patients.

Objective: The developmental psychology literature shows that children with higher levels of effortful control (EC) and ego-resilience (ER) display greater social competence and better emotional adjustment. This study examined whether these dispositional attributes contribute to positive quality of life (QOL) in pediatric cancer patients.

Method: Participants were 103 pediatric cancer patients (and their parents) who were part of a larger parent study.

Longitudinal prediction of disruptive behavior disorders in adolescent males from multiple risk domains.

The disruptive behavior disorders are among the most prevalent youth psychiatric disorders, and they predict numerous problematic outcomes in adulthood. This study examined multiple domains of risk during early childhood and early adolescence as longitudinal predictors of disruptive behavior disorder diagnoses among adolescent males. Early adolescent risks in the domains of sociodemographic factors, the caregiving context, and youth attributes were examined as mediators of associations between early childhood risks and disruptive behavior disorder diagnoses.

An overview of the "Positive Action for Today's Health" (PATH) trial for increasing walking in low income, ethnic minority communities.

Background: Ethnic minorities and lower-income adults have among the highest rates of obesity and lowest levels of regular physical activity (PA). The Positive Action for Today's Health (PATH) trial compares three communities that are randomly assigned to different levels of an environmental intervention to improve safety and access for walking in low income communities.

Design And Setting: Three communities matched on census tract information (crime, PA, ethnic minorities, and income) were randomized to receive either: an intervention that combines a police-patrolled-walking program with social marketing strategies to promote PA, a police-patrolled-walking only intervention, or no-walking intervention (general health education only).