国際生活機能分類(International Classification of Functioning, Disability and Health: ICF)にみた福祉・保健・医療の専門職協働における連携に関する貢献と課題

生活習慣病とgenome-wide association study

Innate production of T[H]2 cytokines by adipose tissue-associated c-Kit[+]Sca-1[+] lymphoid cells

Importance Cerebral palsy describes the most common physical disability in childhood and occurs in 1 in 500 live births. Historically, the diagnosis has been made between age 12 and 24 months but now can be made before 6 months’ corrected age. Objectives To systematically review best available evidence for early, accurate diagnosis of cerebral palsy and to summarize best available evidence about cerebral palsy–specific early intervention that should follow early diagnosis to optimize neuroplasticity and function. Evidence Review This study systematically searched the literature about early diagnosis of cerebral palsy in MEDLINE (1956-2016), EMBASE (1980-2016), CINAHL (1983-2016), and the Cochrane Library (1988-2016) and by hand searching. Search terms included cerebral palsy , diagnosis , detection , prediction , identification , predictive validity , accuracy , sensitivity , and specificity . The study included systematic reviews with or without meta-analyses, criteria of diagnostic accuracy, and evidence-based clinical guidelines. Findings are reported according to the PRISMA statement, and recommendations are reported according to the Appraisal of Guidelines, Research and Evaluation (AGREE) II instrument. Findings Six systematic reviews and 2 evidence-based clinical guidelines met inclusion criteria. All included articles had high methodological Quality Assessment of Diagnostic Accuracy Studies (QUADAS) ratings. In infants, clinical signs and symptoms of cerebral palsy emerge and evolve before age 2 years; therefore, a combination of standardized tools should be used to predict risk in conjunction with clinical history. Before 5 months’ corrected age, the most predictive tools for detecting risk are term-age magnetic resonance imaging (86%-89% sensitivity), the Prechtl Qualitative Assessment of General Movements (98% sensitivity), and the Hammersmith Infant Neurological Examination (90% sensitivity). After 5 months’ corrected age, the most predictive tools for detecting risk are magnetic resonance imaging (86%-89% sensitivity) (where safe and feasible), the Hammersmith Infant Neurological Examination (90% sensitivity), and the Developmental Assessment of Young Children (83% C index). Topography and severity of cerebral palsy are more difficult to ascertain in infancy, and magnetic resonance imaging and the Hammersmith Infant Neurological Examination may be helpful in assisting clinical decisions. In high-income countries, 2 in 3 individuals with cerebral palsy will walk, 3 in 4 will talk, and 1 in 2 will have normal intelligence. Conclusions and Relevance Early diagnosis begins with a medical history and involves using neuroimaging, standardized neurological, and standardized motor assessments that indicate congruent abnormal findings indicative of cerebral palsy. Clinicians should understand the importance of prompt referral to diagnostic-specific early intervention to optimize infant motor and cognitive plasticity, prevent secondary complications, and enhance caregiver well-being.

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Early, accurate diagnosis and early intervention in cerebral palsy: Advances in diagnosis and treatment

Human lungs enable efficient gas exchange and form an interface with the environment, which depends on mucosal immunity for protection against infectious agents. Tightly controlled interactions between structural and immune cells are required to maintain lung homeostasis. Here, we use single-cell transcriptomics to chart the cellular landscape of upper and lower airways and lung parenchyma in healthy lungs, and lower airways in asthmatic lungs. We report location-dependent airway epithelial cell states and a novel subset of tissue-resident memory T cells. In the lower airways of patients with asthma, mucous cell hyperplasia is shown to stem from a novel mucous ciliated cell state, as well as goblet cell hyperplasia. We report the presence of pathogenic effector type 2 helper T cells (TH2) in asthmatic lungs and find evidence for type 2 cytokines in maintaining the altered epithelial cell states. Unbiased analysis of cell-cell interactions identifies a shift from airway structural cell communication in healthy lungs to a TH2-dominated interactome in asthmatic lungs.

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A cellular census of human lungs identifies novel cell states in health and in asthma.

What influences participation in leisure activities of children and youth with physical disabilities? A systematic review

Asthma is a complex disease that results from the interaction between genetic predisposition and environmental factors. Recently, genome-wide association studies have identified a number of genes that significantly contribute to asthma. Two of these genes, IL33 and IL-1 receptor–like 1 (IL1RL1) , act in one signal transduction pathway. IL33 encodes a cytokine released on damage of cells, whereas IL1RL1 encodes part of the IL-33 receptor complex. Recent progress made in functional studies in human subjects and mouse models of allergic airway disease indicate a central role of IL-33 signaling in driving T H 2 inflammation, which is central to eosinophilic allergic asthma. Here, IL-33 acts on cells of both the adaptive and innate immune systems. Very recently, a novel population of IL-33–responsive innate immune cells, the type 2 innate lymphoid cells, was found to produce hallmark T H 2 cytokines, such as IL-5 and IL-13. The relevance of these cells for asthma is underscored by the identification of retinoic acid–related orphan receptor α (RORA) , the gene encoding the transcription factor critical for their differentiation, as another asthma gene in genome-wide association studies. This review describes the mechanisms through which genetic variation at the IL33 and IL1RL1 loci translates into increased susceptibility for asthma. We propose that genetic variation associated with asthma at the IL33 and IL1RL1 loci can be dissected into independent signals with distinct functional consequences for this pathway that is central to asthma pathogenesis.

Decoding asthma: Translating genetic variation in IL33 and IL1RL1 into disease pathophysiology

Background Little is known about the way parents adapt to the situation when their child is diagnosed with cerebral palsy.

Methods  A literature search was performed to gain a deeper insight in the process of adaptation of parents with a child with cerebral palsy and on factors related to this process. The selected articles were examined with respect to (i) the type and purpose of the study, (ii) study sample, (iii) variables and instruments and (iv) results on adaptation and stress of the parents.

Results  Twenty-two studies were found, which showed a large variety in research designs, instruments and populations. Despite methodological differences, it was possible to extract a number of factors related to resources of individual family members, the family unit as a whole and in the community, family appraisal and adaptive coping.

Conclusion  It is important to realize that parents’ adaptation may change as a function of their child’s development and changing stages of family life over time. Until now cross-sectional studies have dominated this area of research, but in order to understand the process of adaptation over time, longitudinal studies are needed.

Parents of children with cerebral palsy: a review of factors related to the process of adaptation.

Purpose. To examine the content of outcome measures that are frequently used in stroke rehabilitation and focus on activities and participation, by linking them to the International Classification of Functioning, Disability and Health (ICF).Method. Constructs of the following instruments were linked to the ICF: Barthel Index, Berg Balance Scale, Chedoke McMaster Stroke Assessment Scale, Euroqol-5D, Functional Independence Measure, Frenchay Activities Index, Nottingham Health Profile, Rankin Scale, Rivermead Motor Assessment, Rivermead Mobility Index, Stroke Adapted Sickness Impact Profile 30, Medical Outcomes Study Short Form 36, Stroke Impact Scale, Stroke Specific Quality of Life Scale and Timed Up and Go test.Results. It proved possible to link most constructs to the ICF. Most constructs fitted into the activities and participation component, with mobility being the category most frequently covered in the instruments. Although instruments were selected on the basis of their focus on activities and part...

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Comparing contents of functional outcome measures in stroke rehabilitation using the International Classification of Functioning, Disability and Health

Purpose. The aim of this study is to describe responsiveness of the Gross Motor Function Measure (GMFM) and the Pediatric Evaluation of Disability Inventory (PEDI) in a group of children with cerebral palsy (CP).Method. The subjects were 55 children with cerebral palsy aged 2 to 7 years (mean 4.6 years). We described the responsiveness of the GMFM and PEDI for all children (n = 55), for children younger than 4 years of age (n = 22) and those older or equal to 4 years (n = 33).Two frames of references for determining responsiveness were used: change over time and external criterion. Responsiveness was calculated with help of the Effect Size (ES), Standardised Response Mean (SRM) and Spearman rank order correlations of change on both the PEDI and GMFM, with change in motor functioning according to the parents as external criterion.Results. The PEDI has ES and SRM values higher than 0.8. The GMFM has ES and SRM values higher than 0.5. For all dimensions of the PEDI and for almost all dimensions of the GMFM, ...

Responsiveness of evaluative measures for children with cerebral palsy: the Gross Motor Function Measure and the Pediatric Evaluation of Disability Inventory.

Maria Ketelaar

Papers

What influences participation in leisure activities of children and youth with physical disabilities? A systematic review

Decoding asthma: Translating genetic variation in IL33 and IL1RL1 into disease pathophysiology

Parents of children with cerebral palsy: a review of factors related to the process of adaptation.

Comparing contents of functional outcome measures in stroke rehabilitation using the International Classification of Functioning, Disability and Health

Responsiveness of evaluative measures for children with cerebral palsy: the Gross Motor Function Measure and the Pediatric Evaluation of Disability Inventory.