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BackgroundHealth information technology (HIT) and associated data analytics offer significant opportunities for tackling some of the more complex challenges currently facing the health care sector. However, to deliver robust health care service improvements, it is essential that HIT solutions be designed by parallelly considering the 3 core pillars of health care quality: clinical effectiveness, patient safety, and patient experience. This requires multidisciplinary teams to design interventions that both adhere to medical protocols and achieve the tripartite goals of effectiveness, safety, and experience. ObjectiveIn this paper, we present a design tool called Integrated Patient Journey Mapping (IPJM) that was developed to assist multidisciplinary teams in designing effective HIT solutions to address the 3 core pillars of health care quality. IPJM is intended to support the analysis of requirements as well as to promote empathy and the emergence of shared commitment and understanding among multidisciplinary teams. MethodsA 6-month, in-depth case study was conducted to derive findings on the use of IPJM during Learning to Evaluate Blood Pressure at Home (LEANBH), a connected health project that developed an HIT solution for the perinatal health context. Data were collected from over 700 hours of participant observations and 10 semistructured interviews. ResultsThe findings indicate that IPJM offered a constructive tool for multidisciplinary teams to work together in designing an HIT solution, through mapping the physical and emotional journey of patients for both the current service and the proposed connected health service. This allowed team members to consider the goals, tasks, constraints, and actors involved in the delivery of this journey and to capture requirements for the digital touchpoints of the connected health service. ConclusionsOverall, IPJM facilitates the design and implementation of complex HITs that require multidisciplinary participation.

The ubiquitously expressed small GTPase Ras-related protein 1B (RAP1B) acts as a molecular switch that regulates cell signaling, cytoskeletal remodeling, and cell trafficking and activates integrins in platelets and lymphocytes. The residue G12 in the P-loop is required for the RAP1B-GTPase conformational switch. Heterozygous germline RAP1B variants have been described in patients with syndromic thrombocytopenia. However, the causality and pathophysiological impact remained unexplored. We report a boy with neonatal thrombocytopenia, combined immunodeficiency, neutropenia, and monocytopenia caused by a heterozygous de novo single nucleotide substitution, c.35G>A (p.G12E) in RAP1B. We demonstrate that G12E and the previously described G12V and G60R were gain-offunction variants that increased RAP1B activation, talin recruitment, and integrin activation, thereby modifying late responses such as platelet activation, T cell proliferation, and migration. We show that in our patient, G12E was a somatic variant whose allele frequency decreased over time in the peripheral immune compartment, but remained stable in bone marrow cells, suggesting a differential effect in distinct cell populations. Allogeneic hematopoietic stem cell transplantation fully restored the patient’s hemato-immunological phenotype. Our findings define monoallelic RAP1B gain-of-function variants as a cause for constitutive immunodeficiency and thrombocytopenia. The phenotypic spectrum ranged from isolated hematological manifestations in our patient with somatic mosaicism to complex syndromic features in patients with reported germline RAP1B variants. [ABSTRACT FROM AUTHOR]

Background: Centres dedicated to chronic postsurgical pain (CPSP) have been developed, but delays for accessing to it are generally long. Teleconsultation might be a means to facilitate access to care by allowing an initial triage. CPSPs are neuropathic pain in around half of the cases and their diagnosis is mainly based on the score obtained from validated questionnaires. Among them, those requiring a neurological examination (i.e. the Douleur Neuropathique en 4 questions [DN4]) have a better sensitivity and specificity, and should be preferred. However, effectiveness of a remote neurological examination remains to be established. The aim of this observational study is to check during a face‐to‐face consultation if, after a short training, a naïve patient is capable to self‐assess the clinical signs of neuropathic sensations. Methods: Thirty patients with suspected neuropathic pain were seen in a face‐to‐face postoperative pain consultation. Before examination, the patient was instructed to fill the DN4 questionnaire, including the neurological examination. Once explanations were given and checked, the patient was left and completed it alone. Then, the pain physician performed the DN4 questionnaire. Inter‐rater reliability between patient and pain physician was assessed for each item and for DN4 score with the Kappa coefficient. Results: For each item of the DN4 questionnaire, Kappa coefficients were between 0.74 and 1, and could be considered as excellent. For DN4 ≥ 4, the Kappa coefficient was 0.86. Conclusions: Our results suggest that after a short training, a naïve patient is capable of recognizing and diagnosing symptoms of neuropathic pain. Significance: Our results suggest that self‐assessment, carried out after brief training and using a simple tool, provides results comparable to those obtained by a specialist physician to diagnose symptoms of neuropathic pain. If the results of the current study are confirmed on a larger scale, self‐assessment will help improve access to specialized chronic pain care by better orienting patients and opening up access to teleconsultations. [ABSTRACT FROM AUTHOR]

The thermal grill illusion of pain is significantly increased in patients with fibromyalgia or irritable bowel syndrome. The thermal grill illusion of pain (TGIP) is a paradoxical burning pain sensation elicited by the simultaneous application of innocuous cutaneous warm and cold stimuli with a thermode ("thermal grill") consisting of interlaced heated and cooled bars. Its neurophysiological mechanisms are unclear, but TGIP may have some mechanisms in common with pathological pain, including central sensitization in particular, through the involvement of N-methyl- d -aspartate receptors. However, few studies have investigated TGIP in patients with chronic pain and its clinical relevance is uncertain. We hypothesized that the TGIP would be increased in comparison with controls in patients with fibromyalgia or irritable bowel syndrome, which are regarded as typical "nociplastic" primary pain syndromes related to changes in central pain processing. We compared the sensations elicited by a large range of combinations of temperature differentials between the warm and cold bars of a thermal grill applied to the hand between patients with fibromyalgia (n = 30) or irritable bowel syndrome (n= 30) and controls (n = 30). The percentage of TGIP responses and the intensity and unpleasantness of TGIP were significantly greater in patients than controls. Furthermore, positive correlations were found between TGIP intensity and clinical pain intensity and between TGIP intensity and the cold pain threshold measured on the hand. These results are consistent with our working hypothesis of shared mechanisms between TGIP and clinical pain mechanisms in patients with nociplastic chronic pain syndromes and suggest that TGIP might represent a clinical marker of central sensitization in these patients. [ABSTRACT FROM AUTHOR]