Rapid Classification of Sarcomas Using Methylation Fingerprint: A Pilot Study.

Sarcoma classification is challenging and can lead to treatment delays. Previous studies used DNA aberrations and machine-learning classifiers based on methylation profiles for diagnosis. We aimed to classify sarcomas by analyzing methylation signatures obtained from low-coverage whole-genome sequencing, which also identifies copy-number alterations.

Teamwork measure relates to provider experience, burnout, and intent to stay.

Objectives: To develop a brief teamwork measure and determine how teamwork relates to provider experience, burnout, and work intentions.

Study Design: Survey of clinicians.

Methods: We analyzed data from Optum's 2019 biannual clinician survey, including a validated burnout measure and measures of provider experience and intent to stay.

Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach.

Background: Phenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual disability (ID), leading to diagnostic uncertainty and compromised access to autism-related support. Previous research has tended to include small samples and diverse measures, which limits the generalisability of findings. In this study, we generated detailed profiles of autistic characteristics in a large sample of > 1500 individuals with rare genetic syndromes.

Quantification of discrete behavioral components of the MDS-UPDRS.

Introduction: The Movement Disorder Society's Unified Parkinson's Disease Rating Scale (MDS-UPDRS) is the current gold standard means of assessing disease state in Parkinson's disease (PD). Objective measures in the form of wearable sensors have the potential to improve our ability to monitor symptomology in PD, but numerous methodological challenges remain, including integration into the MDS-UPDRS. We applied a structured video coding scheme to temporally quantify clinical, scripted, motor tasks in the MDS-UPDRS for the alignment and integration of objective measures collected in parallel.

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.

Background: It is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised. However, comparatively little is known about mothers of children with rare genetic syndromes. This study describes mental health and well-being in mothers of children with 13 rare genetic syndromes and contrasts the results with mothers of children with autism.

Persistence of self-injury, aggression and property destruction in children and adults with tuberous sclerosis complex.

Background: Individuals with tuberous sclerosis complex (TSC) are at increased risk of developing self-injurious behaviour. The persistence of this deleterious behaviour over years is reported in aetiologically heterogeneous samples to be between 60% and 80% but is unknown for TSC.

Method: In this study, we determined the 3-year persistence of self-injury in a sample (n = 52) of children (with and without ID) and adults (with ID) with TSC and examined characteristics associated with persistence.

Associations between behaviours that challenge in adults with intellectual disability, parental perceptions and parental mental health.

Objectives: This study examined parental perceptions of behaviours that challenge (CB) in their adult children with intellectual disability (ID), and explored whether perceptions mediated associations between CB and parental psychological distress.

Design: A within-group correlational design was employed.

Methods: Sixty-five parents reported on individuals with genetic syndromes and ID who had chronic CB.

Self-injury and aggression in adults with tuberous sclerosis complex: Frequency, associated person characteristics, and implications for assessment.

Unlabelled: Even though self-injury and aggression are common in tuberous sclerosis complex (TSC), understanding of these behaviours in adults with TSC and intellectual disability (ID) is limited. Little is known about their frequency in comparison to other ID-related genetic disorders or their association with other TSC-Associated Neuropsychiatric Disorders (TAND). This study determined the caregiver-reported frequency of self-injury and aggression in adults with TSC plus ID in comparison to Down syndrome (DS) and Angelman syndrome (AS), and assessed demographic and behavioural characteristics associated with the occurrence of each behaviour in TSC.

Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers.

Background: Research reporting prevalence rates of self-injurious and aggressive behaviour in people with tuberous sclerosis complex (TSC) is limited. No studies have compared rates of these behaviours in TSC with those in other syndrome groups matched for degree of disability or investigated risk markers for these behaviours in TSC.

Methods: Data from the Challenging Behaviour Questionnaire were collected for 37 children, aged 4 to 15 years, with TSC.

Initial trophic vs full enteral feeding in patients with acute lung injury: the EDEN randomized trial.

Context: The amount of enteral nutrition patients with acute lung injury need is unknown.

Objective: To determine if initial lower-volume trophic enteral feeding would increase ventilator-free days and decrease gastrointestinal intolerances compared with initial full enteral feeding.

Design, Setting, And Participants: The EDEN study, a randomized, open-label, multicenter trial conducted from January 2, 2008, through April 12, 2011.

A dyad of lymphoblastic lysosomal cysteine proteases degrades the antileukemic drug L-asparaginase.

l-Asparaginase is a key therapeutic agent for treatment of childhood acute lymphoblastic leukemia (ALL). There is wide individual variation in pharmacokinetics, and little is known about its metabolism. The mechanisms of therapeutic failure with l-asparaginase remain speculative.

Lysosomal isoenzyme profiles used to classify a case of acute undifferentiated leukaemia.

Lysosomal enzyme activities and isoenzyme profiles were measured in lymphoid and non-lymphoid leukaemic cells from childhood patients. High activities, especially of beta-hexosaminidase and alpha-mannosidase, were associated with leukaemic cells of myeloid or monocytic origin. Leukaemic cells from two children with acute myeloid leukaemia had a relative reduction in the B isoenzyme of beta-hexosaminidase activity, whereas in patients with non T, non B cell acute lymphoblastic leukaemia, intermediate beta-hexosaminidase isoenzymes were expressed.