Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use and re-use of exome sequencing is still emerging. We revisited clinical exome data from 1300 IEI patients using an updated in silico IEI gene panel. Variants were classified and curated through expert review.

Towards developing an intervention to support periodic health checks for adults with intellectual and developmental disabilities: Striving for health equity.

Background: Although the Canadian Consensus Guidelines for Primary Care of Adults with Intellectual and Developmental Disabilities recommends conducting periodic health checks in primary care, uptake is lacking. This study seeks to understand factors influencing the conduct of periodic health checks and identify what needs to change to increase them.

Method: Qualitative data from five stakeholder groups (adults with intellectual and developmental disabilities, primary care providers, administrative staff, family, disability support workers) was guided by the Behaviour Change Wheel and the Theoretical Domains Framework to identify barriers and 'what needs to change' to support periodic health checks.

Primary care of adults with intellectual and developmental disabilities: 2018 Canadian consensus guidelines.

Objective: To update the 2011 Canadian guidelines for primary care of adults with intellectual and developmental disabilities (IDD).

Methods: Family physicians and other health professionals experienced in the care of people with IDD reviewed and synthesized recent empirical, ecosystem, expert, and experiential knowledge. A system was developed to grade the strength of recommendations.

Health Concerns and Health Service Utilization in a Population Cohort of Young Adults with Autism Spectrum Disorder.

Individuals with autism spectrum disorder (ASD) have many health needs that place demands on the health service sector. This study used administrative data to compare health profiles in young adults 18-24 years of age with ASD to peers with and without other developmental disability. Young adults with ASD were more likely to have almost all the examined clinical health issues and health service use indicators compared to peers without developmental disability.

Imitation of Non-Speech Oral Gestures by 8-Month-Old Infants.

This study investigates the oral gestures of 8-month-old infants in response to audiovisual presentation of lip and tongue smacks. Infants exhibited more lip gestures than tongue gestures following adult lip smacks and more tongue gestures than lip gestures following adult tongue smacks. The findings, which are consistent with predictions from Articulatory Phonology, imply that 8-month-old infants are capable of producing goal-directed oral gestures by matching the articulatory organ of an adult model.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

To identify the biochemical and molecular genetic defect in a 16-year-old patient presenting with apical hypertrophic cardiomyopathy and neuropathy suspected for a mitochondrial disorder.Measurement of the mitochondrial energy-generating system (MEGS) capacity in muscle and enzyme analysis in muscle and fibroblasts were performed. Relevant parts of the mitochondrial DNA were analysed by sequencing.

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.

The 13 polypeptides encoded in mitochondrial DNA (mtDNA) are synthesized in the mitochondrial matrix on a dedicated protein-translation apparatus that resembles that found in prokaryotes. Here, we have investigated the genetic basis for a mitochondrial protein-synthesis defect associated with a combined oxidative phosphorylation enzyme deficiency in two patients, one of whom presented with encephalomyopathy and the other with hypertrophic cardiomyopathy. Sequencing of candidate genes revealed the same homozygous mutation (C997T) in both patients in TSFM, a gene coding for the mitochondrial translation elongation factor EFTs.

Differences at 17 months: productive language patterns in infants at familial risk for dyslexia and typically developing infants.

Productive vocabulary composition is investigated in 17-month-old children who are participating in an ongoing longitudinal dyslexia research project in the Netherlands. The project is searching for early precursors for dyslexia and follows a group of children who are genetically at risk for dyslexia and a control group during the first 10 years of their lives. Among other measures, the Dutch version of the MacArthur Communicative Development Inventory: Words and Sentences (N-CDI) is used to investigate early vocabulary development.

Analysis of dendritic cell trafficking using EGFP-transgenic mice.

Dendritic cells (DCs) are professional antigen presenting cells, well equipped to initiate an immune response. For effective induction of an immune response, DC should migrate from the periphery to the lymph node to present the antigen to T lymphocytes. Currently, tumor-antigen loaded DCs are used in clinical vaccination trials in cancer patients.

Effect of blood sample handling and reverse transcriptase-polymerase chain reaction assay sensitivity on detection of CK20 expression in healthy donor blood.

Data concerning the specificity of cytokeratin 20 (CK20) as a reverse transcriptase-polymerase chain reaction analysis (RT-PCR) marker to detect disseminated tumor cells in blood are conflicting. Underlying causes for these discrepancies need to be determined to clarify the significance of CK20 detection. Because differences in RT-PCR assays and blood sample handling may be important, their influence on CK20 detection was studied.

Melanoma-inhibiting activity (MIA) mRNA is not exclusively transcribed in melanoma cells: low levels of MIA mRNA are present in various cell types and in peripheral blood.

The detection of minimal amounts of melanoma cells by tyrosinase reverse transcription polymerase chain reaction (RT-PCR) is seriously hampered by false negative reports in blood of melanoma patients with disseminated melanoma. Therefore, additional assays which make use of multiple melanoma markers are needed. It has been shown that introduction of multiple markers increases the sensitivity of detection.