Articles: function.
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Primary ciliary dyskinesia (PCD, ORPHA:244) is a group of rare genetic disorders characterized by dysfunction of motile cilia. It is phenotypically and genetically heterogeneous, with more than 50 genes involved. Thanks to genetic, clinical, and functional characterization, immense progress has been made in the understanding and diagnosis of PCD. Nevertheless, it is underdiagnosed due to the heterogeneous phenotype and complexity of diagnosis. This review aims to help clinicians navigate this heterogeneous group of diseases. Here, we describe the broad spectrum of phenotypes associated with PCD and address pitfalls and difficult-to-interpret findings to avoid misinterpretation. ⋯ Review of literature CONCLUSION: PCD diagnosis is complex and requires integration of history, clinical picture, imaging, functional and structural analysis of motile cilia and, if available, genetic analysis to make a definitive diagnosis. It is critical that we continue to expand our knowledge of this group of rare disorders to improve the identification of PCD patients and to develop evidence-based therapeutic approaches.
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Pain-related distress contributes to long-term disability in chronic whiplash-associated disorders. Recently, neuroimaging studies have revealed altered neural responses to viewing pictures of movements associated with back pain in key regions for threat and affective processing. In this study, we examined neural correlates of imagining neck-specific movements designed to elicit pain-related distress in individuals with whiplash-associated disorders (n = 63) when compared with that in sex-matched pain-free controls (n = 32). ⋯ Activation patterns in the precuneus and posterior cingulate cortex were negatively associated with pain-related fear, but no other correlations were observed. Together, the findings suggest that when conceptualizing neck-specific movements associated with pain, people with chronic whiplash-associated disorders may predict-and potentially amplify-their sensory and affective consequences and therewith trigger dysfunctional affective and/or behavioral responses. Herewith, we provide new insights into the neural mechanisms underlying chronic pain in people with whiplash-associated disorders, pointing towards a complex interplay between cognitive/affective and sensorimotor circuitry.
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Adhesive capsulitis (AC) is a painful and disabling condition with restricted range of motion (ROM) that affects 2% to 3% of the population and up to 20% of patients with diabetes. AC can be idiopathic, iatrogenic, or secondary to shoulder injuries. Some associated conditions include diabetes mellitus, thyroid disorders, dyslipidemia, stroke, prolonged immobilization, and autoimmune conditions. Management ranges from analgesics to physical therapy, local injections, hydrodilatation, and advanced surgical interventions. This study examines percutaneous coracohumeral ligament (PCHL) sectioning with the hypothesis that interruption would improve pain and ROM in patients with AC refractory to conservative management. ⋯ Tenex, frozen shoulder, pain, range of motion, function, shoulder, minimally invasive, durable.
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To determine: (1) the smallest change in function patients would need to see following a self-management intervention for low back pain (LBP) to consider it worthwhile; (2) the association between patient-related factors and the magnitude of the smallest worthwhile change. ⋯ On average, an improvement of 9.4 points (or 31%) in function is considered by people with LBP as the smallest change that makes self-management worthwhile. Those with lower levels of function needed to experience greater improvements.