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1.
Article de Anglais | MEDLINE | ID: mdl-38989810

RÉSUMÉ

INTRODUCTION: Degeneration in choroideraemia, unlike typical centripetal photoreceptor degenerations, is centred temporal to the fovea. Once the fovea is affected, the nasal visual field (temporal retina) is relatively spared, and the preferred retinal locus shifts temporally. Therefore, when reading left to right, only the right eye reads into a scotoma. We investigate how this unique property affects the ability to read an eye chart. METHODS: Standard- and low-luminance visual acuity (VA) for right and left eyes were measured with the Early Treatment of Diabetic Retinopathy Study (ETDRS) chart. Letters in each line were labelled by column position. The numbers of letter errors for each position across the whole chart were summed to produce total column error scores for each participant. Macular sensitivity was assessed using microperimetry. Central sensitivity asymmetry was determined by the temporal-versus-nasal central macular difference and subsequently correlated to a weighted ETDRS column error score. Healthy volunteers and participants with X-linked retinitis pigmentosa GTPase regulator associated retinitis pigmentosa (RPGR-RP) were used as controls. RESULTS: Thirty-nine choroideraemia participants (median age 44.9 years [IQR 35.7-53.5]), 23 RPGR-RP participants (median age 30.8 years [IQR 26.5-40.5]) and 35 healthy controls (median age 23.8 years [IQR 20.3-29.0]) were examined. In choroideraemia, standard VA in the right eye showed significantly greater ETDRS column errors on the temporal side compared with the nasal side (p = 0.002). This significantly correlated with greater asymmetry in temporal-versus-nasal central macular sensitivity (p = 0.04). No significant patterns in ETDRS column errors or central macular sensitivity were seen in the choroideraemia left eyes, nor in RPGR-RP and control eyes. CONCLUSION: Difficulty in tracking across lines during ETDRS VA testing may cause excess errors independent of true VA. VA assessment with single-letter optotype systems may be more suitable, particularly for patients with choroideraemia, and potentially other retinal diseases with asymmetric central macular sensitivity or large central scotomas including geographic atrophy.

2.
IEEE Trans Biomed Eng ; PP2024 Jul 11.
Article de Anglais | MEDLINE | ID: mdl-38990741

RÉSUMÉ

OBJECTIVE: Super-resolution ultrasound (SRUS) imaging through localizing and tracking microbubbles, also known as ultrasound localization microscopy (ULM), can produce sub-diffraction resolution images of micro-vessels. We have recently demonstrated 3-D selective SRUS with a matrix array and phase change contrast agents (PCCAs). However, this method is limited to a small field of view (FOV) and by the complex hardware required. METHOD: This study proposed 3-D acoustic wave sparsely activated localization microscopy (AWSALM) using PCCAs and a 128+128 row-column-addressed (RCA) array, which offers ultrafast acquisition with over 6 times larger FOV and 4 times reduction in hardware complexity than a 1024-element matrix array. We first validated this method on an in-vitro microflow phantom and subsequently demonstrated non-invasively on a rabbit kidney in-vivo. RESULTS: Our results show that 3-D AWSALM images of the phantom covering a 25×25×40 mm 3 volume can be generated under 5 seconds with an 8 times resolution improvement over the system point spread function. The full volume of the rabbit kidney can be covered to generate 3-D microvascular structure, flow speed and direction super-resolution maps under 15 seconds, combining the large FOV of RCA with the high resolution of SRUS. Additionally, 3-D AWSALM is selective and can visualize the microvasculature within the activation volume and downstream vessels in isolation. Sub-sets of the kidney microvasculature can be imaged through selective activation of PCCAs. CONCLUSION: Our study demonstrates large FOV 3-D AWSALM using an RCA probe. SIGNIFICANCE: 3-D AWSALM offers an unique in-vivo imaging tool for fast, selective and large FOV vascular flow mapping.

3.
Ophthalmol Sci ; 4(5): 100519, 2024.
Article de Anglais | MEDLINE | ID: mdl-38881606

RÉSUMÉ

Clinical Relevance: Visual function impairment from diabetic retinopathy can have a considerable impact on patient's quality of life. Best-corrected visual acuity (BCVA) is most commonly used to assess visual function and guide clinical trials. However, BCVA is affected late in the disease process, is not affected in early disease, and does not capture some of the visual disturbances described by patients with diabetes. The goal of this report is to evaluate the relationship between diabetic retinal disease (DRD) and visual function parameters to determine which if any of them may be used in a future DRD staging system. Methods: The visual functions working group was 1 of 6 areas of DRD studied as part of the DRD staging system update, a project of the Mary Tyler Moore Vision Initiative. The working group identified 12 variables of possible interest, 7 of which were judged to have sufficient preliminary data to suggest an association with DR to warrant further review: microperimetry, static automated perimetry, electroretinogram (ERG) oscillatory potentials, flicker ERG, low luminance visual acuity (LLVA), contrast sensitivity (CS), and BCVA. The objective field analyzer (OFA) was added after subsequent in-person workshops. Results: Currently, the only visual function test available for immediate use is BCVA; the remaining tests are either promising (within 5 years) or have potential (>5 years) use. Besides BCVA, most visual function tests had a limited role in current clinical care; however, LLVA, CS, flicker ERG, and OFA demonstrated potential for screening and research purposes. Conclusions: Although current visual function tests are promising, future prospective studies involving patients with early and more advanced retinopathy are necessary to determine if these tests can be used clinically or as endpoints for clinical studies. Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

4.
Ophthalmol Retina ; 2024 Jun 25.
Article de Anglais | MEDLINE | ID: mdl-38936773

RÉSUMÉ

PURPOSE: To describe visual function and retinal features of female carriers of choroideremia (CHM), using multimodal imaging and microperimetry. DESIGN: Cross-sectional cohort study. PARTICIPANTS AND CONTROLS: Choroideremia carriers seen in Australia (Melbourne or Perth) or the United Kingdom (Oxford or Cambridge) between 2012 and 2023. Healthy age-matched controls seen in Melbourne, Australia, between 2022 and 2023. METHODS: Participants had visual acuity, fundus-tracked microperimetry, OCT, and fundus autofluorescence imaging performed. Choroideremia carriers were either genetically or clinically confirmed (i.e., obligate carriers). Choroideremia carriers were grouped according to their retinal phenotype and compared with healthy controls. Statistical analyses were performed on StataBE (v18.0). MAIN OUTCOME MEASURES: Best-corrected visual acuity (BCVA), low-luminance visual acuity (LLVA), average retinal sensitivity, volume of macular hill of vision (HoV), inner retinal thickness, and photoreceptor complex (PRC) thickness. RESULTS: Eighty-six eyes of 43 CHM carriers and 60 eyes of 30 healthy controls were examined using multimodal imaging and microperimetry. Median age was 54 and 48.5 years for CHM carriers and controls, respectively (P = 0.18). Most CHM carriers (86%) were genetically confirmed. Choroideremia carriers and controls had strong intereye correlation between eyes for BCVA and average retinal sensitivity (P < 0.001). Low-luminance visual acuity and macular HoV tests were sensitive tests to detect changes in CHM carriers with mild phenotypes (i.e., fine and coarse). Choroideremia carriers with geographic or male-pattern phenotypes had reduced BCVA, LLVA, retinal sensitivity, and retinal thinning, compared with healthy controls. Retinal thickening of the inner retina was observed in the central 1°, despite generalized thinning of the PRC in the central 7°, indicating retinal remodeling in CHM carriers, compared with controls. There were no genotype-phenotype correlations observed. CONCLUSIONS: Female carriers of CHM with severe retinal phenotypes (i.e., geographic or male pattern) have significantly decreased visual function and retinal structural changes when compared with age-matched controls and those carriers with milder phenotypes. Low-luminance visual acuity and volumetric measures of the macular HoV were found to be the most sensitive functional tests to detect milder retinal disease (fine and coarse phenotypes) in CHM carriers. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

5.
J Sch Psychol ; 104: 101288, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38871412

RÉSUMÉ

School-based mindfulness trainings (SBMT) are a contemporary approach for intervening to promote students' social and emotional skills and well-being. Despite evidence from the larger field of evidence-based social and emotional learning programs demonstrating the importance of high-quality implementation, few studies have investigated factors impacting the implementation of SBMTs, particularly teacher-level influences. The present study addressed this issue by investigating whether teachers' stress, trust in their fellow teachers and principal, and expectations about the program at baseline predicted the quality of their implementation of a SBMT for students. In addition, we examined whether teachers' stress at baseline moderated the effect of training condition on implementation quality. Implementation quality was assessed via observations and teacher self-reports. Results from a sample of British secondary (middle-high) school educators (N = 81) indicated that teachers who felt more supported by their principals at baseline were later observed to implement the SBMT with greater quality, whereas teachers who had more positive expectations about the program felt more confident teaching the course in the future. Teachers' baseline stress moderated the effect of training condition on all measures of implementation quality; among teachers experiencing high stress at baseline, more intensive training led to higher quality implementation. Implications for practitioners and prevention researchers are discussed.


Sujet(s)
Pleine conscience , Enseignants , Humains , Pleine conscience/méthodes , Enseignants/psychologie , Femelle , Mâle , Adulte , Stress psychologique/thérapie , Stress psychologique/psychologie , Adulte d'âge moyen , Formation des enseignants/méthodes , Établissements scolaires , Stress professionnel/prévention et contrôle , Stress professionnel/psychologie , Stress professionnel/thérapie
6.
PLoS One ; 19(5): e0303496, 2024.
Article de Anglais | MEDLINE | ID: mdl-38739622

RÉSUMÉ

INTRODUCTION: Rheumatic heart disease (RHD), degenerative aortic stenosis (AS), and congenital valve diseases are prevalent in sub-Saharan Africa. Many knowledge gaps remain in understanding disease mechanisms, stratifying phenotypes, and prognostication. Therefore, we aimed to characterise patients through clinical profiling, imaging, histology, and molecular biomarkers to improve our understanding of the pathophysiology, diagnosis, and prognosis of RHD and AS. METHODS: In this cross-sectional, case-controlled study, we plan to recruit RHD and AS patients and compare them to matched controls. Living participants will undergo clinical assessment, echocardiography, CMR and blood sampling for circulatory biomarker analyses. Tissue samples will be obtained from patients undergoing valve replacement, while healthy tissues will be obtained from cadavers. Immunohistology, proteomics, metabolomics, and transcriptome analyses will be used to analyse circulatory- and tissue-specific biomarkers. Univariate and multivariate statistical analyses will be used for hypothesis testing and identification of important biomarkers. In summary, this study aims to delineate the pathophysiology of RHD and degenerative AS using multiparametric CMR imaging. In addition to discover novel biomarkers and explore the pathomechanisms associated with RHD and AS through high-throughput profiling of the tissue and blood proteome and metabolome and provide a proof of concept of the suitability of using cadaveric tissues as controls for cardiovascular disease studies.


Sujet(s)
Sténose aortique , Marqueurs biologiques , Rhumatisme cardiaque , Humains , Rhumatisme cardiaque/imagerie diagnostique , Rhumatisme cardiaque/physiopathologie , Rhumatisme cardiaque/métabolisme , Sténose aortique/imagerie diagnostique , Sténose aortique/métabolisme , Sténose aortique/physiopathologie , Marqueurs biologiques/métabolisme , Études cas-témoins , Études transversales , Mâle , Femelle , Métabolomique/méthodes , Échocardiographie/méthodes , Protéomique/méthodes , Imagerie par résonance magnétique/méthodes , Multi-omique
7.
Front Health Serv ; 4: 1210166, 2024.
Article de Anglais | MEDLINE | ID: mdl-38590731

RÉSUMÉ

Introduction: To support rigorous evaluation across a national portfolio of grants, the United States Department of Veterans Affairs (VA) Office of Rural Health (ORH) adopted an analytic framework to guide their grantees' evaluation of initiatives that reach rural veterans and to standardize the reporting of outcomes and impacts. Advance Care Planning via Group Visits (ACP-GV), one of ORH's Enterprise-Wide Initiatives, also followed the Reach, Effectiveness, Adoption, Implementation, and Maintenance (RE-AIM) framework. ACP-GV is a national patient-centered intervention delivered in a large, veterans integrated healthcare system. This manuscript describes how RE-AIM was used to evaluate this national program and lessons learned from ORH's annual reporting feedback to ACP-GV on their use of the framework to describe evaluation impacts. Methods: We used patient, provider, and site-level administrative health care data from the VA Corporate Data Warehouse and national program management databases for federal fiscal years (FY) spanning October 1, 2018-September 30, 2023. Measures included cumulative and past FY metrics developed to assess program impacts. Results: RE-AIM constructs included the following cumulative and annual program evaluation results. ACP-GV reached 54,167 unique veterans, including 19,032 unique rural veterans between FY 2018 to FY 2023. During FY 2023, implementation adherence to the ACP-GV model was noted in 91.7% of program completers, with 55% of these completers reporting a knowledge increase and 14% reporting a substantial knowledge increase (effectiveness). As of FY 2023, 66 ACP-GV sites were active, and 1,556 VA staff were trained in the intervention (adoption). Of the 66 active sites in FY 2023, 27 were sites previously funded by ORH and continued to offer ACP-GV after the conclusion of three years of seed funding (maintenance). Discussion: Lessons learned developing RE-AIM metrics collaboratively with program developers, implementers, and evaluators allowed for a balance of clinical and scientific input in decision-making, while the ORH annual reporting feedback provided specificity and emphasis for including both cumulative, annual, and rural specific metrics. ACP-GV's use of RE-AIM metrics is a key step towards improving rural veteran health outcomes and describing real world program impacts.

8.
Dermatol Surg ; 50(8): 727-730, 2024 Aug 01.
Article de Anglais | MEDLINE | ID: mdl-38630594

RÉSUMÉ

BACKGROUND: Pinch grafting has experienced a resurgence in interest in recent years, stemming from its simplicity, safety, and potential in restoring tissue integrity. While historically employed for chronic nonhealing wounds, pinch grafts have shown promise following surgical procedures, particularly those involving the lower extremities. OBJECTIVE: To systematically review the literature and present an updated overview of the current applications of pinch grafting. METHODS: A systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. In collaboration with a medical reference librarian, the PubMed, Embase, Scopus, and Web of Science databases were searched for studies reporting on the use of pinch grafting from 2000 onward. The references of each included article were also screened. RESULTS: Ten articles met final inclusion criteria. In total, 300 patients underwent pinch grafting for treatment of skin ulceration, while an additional 35 cases were performed as an alternative to primary closure following skin cancer resection. Overall, pinch grafting was safe and well tolerated, with minimal adverse outcomes reported. CONCLUSION: Pinch grafting is a safe, straightforward, and effective technique to promote the healing of chronic wounds. While the procedure shows early promise in emerging applications within dermatologic surgery, only about 10% of the reported cases involved this indication, reflecting a need for further research in this area.


Sujet(s)
Transplantation de peau , Cicatrisation de plaie , Humains , Transplantation de peau/méthodes , Procédures chirurgicales dermatologiques/méthodes , Procédures chirurgicales dermatologiques/effets indésirables , Ulcère cutané/chirurgie , Tumeurs cutanées/chirurgie
9.
PLoS One ; 19(3): e0292755, 2024.
Article de Anglais | MEDLINE | ID: mdl-38457421

RÉSUMÉ

The Developing Belief Network is a consortium of researchers studying human development in diverse social-cultural settings, with a focus on the interplay between general cognitive development and culturally specific processes of socialization and cultural transmission in early and middle childhood. The current manuscript describes the study protocol for the network's first wave of data collection, which aims to explore the development and diversity of religious cognition and behavior. This work is guided by three key research questions: (1) How do children represent and reason about religious and supernatural agents? (2) How do children represent and reason about religion as an aspect of social identity? (3) How are religious and supernatural beliefs transmitted within and between generations? The protocol is designed to address these questions via a set of nine tasks for children between the ages of 4 and 10 years, a comprehensive survey completed by their parents/caregivers, and a task designed to elicit conversations between children and caregivers. This study is being conducted in 39 distinct cultural-religious groups (to date), spanning 17 countries and 13 languages. In this manuscript, we provide detailed descriptions of all elements of this study protocol, give a brief overview of the ways in which this protocol has been adapted for use in diverse religious communities, and present the final, English-language study materials for 6 of the 39 cultural-religious groups who are currently being recruited for this study: Protestant Americans, Catholic Americans, American members of the Church of Jesus Christ of Latter-day Saints, Jewish Americans, Muslim Americans, and religiously unaffiliated Americans.


Sujet(s)
Parents , Religion et psychologie , Humains , Enfant , Enfant d'âge préscolaire , Islam/psychologie , Cognition , Enquêtes et questionnaires
10.
Transl Androl Urol ; 13(1): 127-138, 2024 Jan 31.
Article de Anglais | MEDLINE | ID: mdl-38404545

RÉSUMÉ

Background and Objective: Implantation of penile prosthesis (PP) into scarred and fibrotic corpora can be a difficult challenge. In this review article, we provide a review of penile fibrosis, discuss current medical and surgical management and summarize preventative strategies. Methods: In this study, we searched PubMed between the years 2000-2023 for publications with search strategy: "penile fibrosis" OR "scarred corpora" OR "fibrosed corpora". Key Content and Findings: This search returned a total of 137 articles. We examine the evidence for preoperative patient evaluation and penile ultrasound (US), oral phosphodiesterase-5 inhibitors, pentoxifylline, and L-arginine, vacuum device therapy and the use of surgical approaches and tools in the context of complex penile fibrosis cases. Severe penile fibrosis is most associated with priapism and infection. Estimating the degree of fibrosis via preoperative US may help set realistic patient expectations. Phosphodiesterase inhibitors and L-arginine reduce fibrosis in animal models however their impact in humans remains unclear despite theoretical advantage for their use. Vacuum device therapy may preserve penile length following priapism and infected PP cases. The use of Coloplast Narrow-Based or AMS-700 CXR implants are used primarily for severe fibrosis. Various surgical excisional/incisional techniques, the Carrion-Rossello, Mooreville Uramix cavernotomes and reverse cutting scissors are all options, and their use varies from case to case. Finally, prevention of penile fibrosis in patients with history of penile implant infection and the safety of early implantation of a penile implant in patients with refractory priapism is encouraged. Conclusions: The management of penile fibrosis remains a challenge but there are multiple options to assist clinicians. Complex cases should be managed and studied at high volume centers.

11.
Ophthalmic Genet ; 45(2): 210-217, 2024 Apr.
Article de Anglais | MEDLINE | ID: mdl-38273808

RÉSUMÉ

INTRODUCTION: Molecular confirmation of pathogenic sequence variants in the CHM gene is required prior to enrolment in retinal gene therapy clinical trials for choroideremia. Individuals with mild choroideremia have been reported. The molecular basis of genotype-phenotype associations is of clinical relevance since it may impact on selection for retinal gene therapy. METHODS AND MATERIALS: Genetic testing and RNA analysis were undertaken in a patient with mild choroideremia to confirm the pathogenicity of a novel intronic variant in CHM and to explore the mechanism underlying the mild clinical phenotype. RESULTS: A 42-year-old male presented with visual field loss. Fundoscopy and autofluorescence imaging demonstrated mild choroideremia for his age. Genetic analysis revealed a variant at a splice acceptor site in the CHM gene (c.1350-3C > G). RNA analysis demonstrated two out-of-frame transcripts, suggesting pathogenicity, without any detectable wildtype transcripts. One of the two out-of-frame transcripts is present in very low levels in healthy controls. DISCUSSION: Mild choroideremia may result from +3 or -3 splice site variants in CHM. It is presumed that the resulting mRNA transcripts may be partly functional, thereby preventing the development of the null phenotype. Choroideremia patients with such variants may present challenges for gene therapy since there may be residual transcript activity which could result in long-lasting visual function which is atypical for this disease.


Sujet(s)
Choroïdérémie , Mâle , Humains , Adulte , Choroïdérémie/génétique , Choroïdérémie/anatomopathologie , Mutation , Exons/génétique , Rétine , Sites d'épissage d'ARN
12.
J Environ Manage ; 351: 119821, 2024 Feb.
Article de Anglais | MEDLINE | ID: mdl-38169265

RÉSUMÉ

Offshore wind development is in its nascent stages in the United States. Recent research indicates that the visual impacts of offshore wind farms are viewed negatively by the general population. This North Carolina application is the first US-focused discrete choice experiment that explicitly asks respondents to consider the positive local and global benefits from offshore wind development, such as job creation and greenhouse gas emission reductions, simultaneously with their visual impacts. We find significant willingness to pay (WTP) for reducing the visual impacts of offshore wind farms, and that the extent of disamenity varies in the population and with placement along developed tourist towns (as much as $783/year for three years) or preserved coastlines (as much as $451/year for three years). We also find that some preference classes value projects that create permanent jobs and reduce carbon emissions. We use our estimates of preferences for the positive and negative attributes to explore specific wind farm configurations and locations that could achieve positive consensus in a heterogenous population.


Sujet(s)
Ressources de production d'énergie , Vent , Humains , États-Unis , Caroline du Nord , Fermes
13.
Invest Radiol ; 59(5): 379-390, 2024 May 01.
Article de Anglais | MEDLINE | ID: mdl-37843819

RÉSUMÉ

OBJECTIVE: The aim of this study is to demonstrate 3-dimensional (3D) acoustic wave sparsely activated localization microscopy (AWSALM) of microvascular flow in vivo using phase change contrast agents (PCCAs). MATERIALS AND METHODS: Three-dimensional AWSALM using acoustically activable PCCAs was evaluated on a crossed tube microflow phantom, the kidney of New Zealand White rabbits, and the brain of C57BL/6J mice through intact skull. A mixture of C 3 F 8 and C 4 F 10 low-boiling-point fluorocarbon gas was used to generate PCCAs with an appropriate activation pressure. A multiplexed 8-MHz matrix array connected to a 256-channel ultrasound research platform was used for transmitting activation and imaging ultrasound pulses and recording echoes. The in vitro and in vivo echo data were subsequently beamformed and processed using a set of customized algorithms for generating 3D super-resolution ultrasound images through localizing and tracking activated contrast agents. RESULTS: With 3D AWSALM, the acoustic activation of PCCAs can be controlled both spatially and temporally, enabling contrast on demand and capable of revealing 3D microvascular connectivity. The spatial resolution of the 3D AWSALM images measured using Fourier shell correlation is 64 µm, presenting a 9-time improvement compared with the point spread function and 1.5 times compared with half the wavelength. Compared with the microbubble-based approach, more signals were localized in the microvasculature at similar concentrations while retaining sparsity and longer tracks in larger vessels. Transcranial imaging was demonstrated as a proof of principle of PCCA activation in the mouse brain with 3D AWSALM. CONCLUSIONS: Three-dimensional AWSALM generates volumetric ultrasound super-resolution microvascular images in vivo with spatiotemporal selectivity and enhanced microvascular penetration.


Sujet(s)
Produits de contraste , Microscopie , Souris , Animaux , Lapins , Souris de lignée C57BL , Son (physique) , Acoustique , Échographie/méthodes , Microbulles
14.
Ophthalmic Genet ; 45(2): 201-206, 2024 Apr.
Article de Anglais | MEDLINE | ID: mdl-37728066

RÉSUMÉ

PURPOSE: Retinitis pigmentosa (RP) associated with biallelic variants in CDHR1 has rarely been reported, and detailed phenotyping data are not available. RP implies relative preservation of foveal cones, when compared to cone-rod dystrophy associated with biallelic null variants in CDHR1. We hypothesize that RP may occur in association with one or more hypomorphic CDHR1 alleles. MATERIALS AND METHODS: Retrospective report of a 48-year-old patient with CDHR1-associated RP with a hypomorphic missense variant c.562 G>A, p. (Gly188Ser) and a novel, unreported variant affecting a canonical splice acceptor site (c.784-1 G>C). Clinical examination, multimodal retinal imaging, electroretinography, visual field testing, and mesopic microperimetry were undertaken 8 years apart. Scotopic microperimetry was also performed. The DNA sequence context of the variants was examined to identify theoretical CRISPR-Cas9 base-editing strategies. RESULTS: The patient presented at 35 years with a 12-year history of nyctalopia. His best corrected visual acuity was 20/20. Clinical presentation, multimodal retinal imaging studies, electroretinography, and mesopic microperimetry were typical of a progressive rod-cone dystrophy (i.e. classic RP). There were no scotomas within the central field as would be expected at this age in CDHR1-associated cone-rod dystrophy. Scotopic microperimetry suggested some preservation of macular cone over rod function, although both were severely impaired. A suitable CRISPR adenine base editor was identified that could theoretically correct the missense variant c.562 G>A, p. (Gly188Ser). CONCLUSIONS: CDHR1-associated RP shows a relative preservation of cone function in the presence of a presumed hypomorphic allele and may be considered a hypomorphic disease phenotype. Further work is required to identify modifying factors that determine disease phenotype since macular dystrophy, with relative sparing of rods, may also occur with hypomorphic CDHR1 alleles.


Sujet(s)
Dystrophies des cônes et des batonnets , Rétinite pigmentaire , Humains , Protéines apparentées aux cadhérines , Dystrophies des cônes et des batonnets/génétique , Électrorétinographie , Mutation , Protéines de tissu nerveux/génétique , Phénotype , Rétine , Rétinite pigmentaire/diagnostic , Rétinite pigmentaire/génétique , Études rétrospectives , Adulte
15.
Dermatol Surg ; 50(1): 16-20, 2024 Jan 01.
Article de Anglais | MEDLINE | ID: mdl-37861355

RÉSUMÉ

BACKGROUND: Lidocaine is the most commonly used local anesthetic for Mohs micrographic surgery (MMS), but given its limited half-life, postoperative pain remains a significant concern for patients. Bupivacaine is used in various surgical subspecialty procedures and has demonstrated improved pain control compared with lidocaine. However, its role in MMS is insufficiently explored. OBJECTIVE: To systematically review the current literature for reports on use of bupivacaine, traditional nonliposomal and newer liposomal formulations, for MMS. METHODS: A systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. The MEDLINE, PubMed, and EMBASE databases were queried for articles presenting original data on the use of bupivacaine for MMS. RESULTS: Of 483 potentially relevant articles, 3 studies met final inclusion criteria, capturing a total of 253 patients involved in primary investigations comparing bupivacaine to traditional local anesthesia for MMS. Bupivacaine was well-tolerated and associated with comparable or modestly reduced intraoperative and postoperative pain and opioid use. CONCLUSION: Bupivacaine may have a role in prolonging intraoperative anesthesia, reducing acute postoperative pain, and reducing postoperative opioid use after MMS. However, large, prospective studies are needed to solidify the generalizability and clinical utility of these findings.


Sujet(s)
Bupivacaïne , Chirurgie de Mohs , Humains , Chirurgie de Mohs/effets indésirables , Analgésiques morphiniques , Anesthésiques locaux , Douleur postopératoire/étiologie , Douleur postopératoire/prévention et contrôle , Lidocaïne
16.
J Pain Symptom Manage ; 67(1): e94-e98, 2024 Jan.
Article de Anglais | MEDLINE | ID: mdl-37666369

RÉSUMÉ

Requests for perimortem gamete procurement (PGP) typically arise by a surrogate decision maker after the unexpected death or incapacitation of a reproductive-aged individual. Palliative care clinicians should have a working knowledge of the medical, ethical, and practical considerations pertaining to such requests. In this paper, we describe a case in which the PGP request originated from an incapacitated patient's parents. We review the technologies associated with PGP and posthumous assisted reproduction (PAR) and discuss the ethical and legal issues involved in such cases, including recent position statements from national and international reproductive health groups. Finally, we provider readers with a stepwise approach for considering requests for PGP.


Sujet(s)
Soins palliatifs , Conception posthume , Humains , Adulte , Cellules germinales
17.
Patient Educ Couns ; 120: 108116, 2024 Mar.
Article de Anglais | MEDLINE | ID: mdl-38150951

RÉSUMÉ

OBJECTIVE: Advance Care Planning (ACP) via Group Visits (ACP-GV) is an innovative patient-centered intervention used in the United States Department of Veterans Affairs (VA) healthcare system. The goal of ACP-GV is to spread ACP to veterans and caregivers in medically underserved rural areas. Veterans, caregivers and those they trust participate in a group led by clinicians in Veterans Health Administration healthcare and/or community-based settings. To learn how to facilitate ACP-GV, clinicians attend ACP-GV training. The training teaches the ACP-GV group model and the theoretical components of Motivational Interviewing (MI) (Rollnick & Miller, 1995), which are used to empower participants to have conversations about their healthcare values and preferences. Therefore, the aim is to describe the specific MI techniques utilized by group facilitators in the innovative ACP-GV intervention. DISCUSSION: We provide exemplars for how group facilitators apply the MI techniques to the group discussion with participants. Lastly, we provide a scripted case example of a coded MI-concordant session of ACP-GV delivered with veterans in a healthcare setting that can be used in future training and education for clinicians interested in facilitating ACP using a group modality. CONCLUSION: MI is a key aspect of delivering ACP-GV, a high-quality, patient-centered intervention for veterans, caregivers and those they trust.


Sujet(s)
Planification anticipée des soins , Entretien motivationnel , Anciens combattants , États-Unis , Humains , Entretien motivationnel/méthodes , Niveau d'instruction , Department of Veterans Affairs (USA)
18.
Article de Espagnol | LILACS-Express | LILACS | ID: biblio-1536581

RÉSUMÉ

Introducción: El objetivo de este artículo fue identificar las variables que mejor predicen las medidas de agresión, empatía y perdón, como también las principales diferencias en contextos vulnerables, hostiles y seguros, en una muestra de niños, niñas y adolescentes pertenecientes a una población vulnerable. Método: se realizó un estudio cuantitativo transversal con una muestra no probabilística incidental de 85 participantes, se emplearon medidas psicométricas para la empatía, agresión y perdón. Los participantes fueron convocados en una fundación de atención a víctimas para realizar una entrevista y aplicar el test. Resultados: Se encontraron efectos estadísticamente significativos entre las variables del modelo verificado, donde la empatía predice la agresión en el contexto hostil, pero no en el vulnerable y seguro. A su vez, la empatía predice el perdón en los contextos vulnerables y seguros, y la agresión predice el perdón en el modelo hostil, pero no es significativo su efecto en el contexto vulnerable y seguro. Además, la empatía tiene un papel clave en la comprensión del perdón, dado que se asocia a conductas agresivas en los contextos de hostilidad, mientras que un modelo de perdón debería ser diferencial en estos contextos. Conclusiones: Los hallazgos de este estudio brindan evidencia empírica que sustenta la importancia de la implementación de estrategias para mejorar las habilidades relacionadas con la empatía en niños y adolescentes, desde la perspectiva de la educación para la paz y el perdón. Además, se demostró que los aspectos como el clima familiar, las vulnerabilidades de los contextos de riesgo y la misma cultura, pueden determinar el desarrollo de habilidades socioemocionales que favorecen el perdón, empatía y otras capacidades interpersonales.


Introduction: The aim of this study was to identify the variables that best predict measures of aggression, empathy, and forgiveness, as well as the main differences in vulnerable, hostile and safe contexts, in a sample of children and adolescents belonging to a vulnerable population. Method: A cross-sectional quantitative study was conducted with a non-probabilistic incidental sample of 85 participants. Psychometric measures of empathy, aggression, and forgiveness were used. The participants were invited to a victim assistance foundation for an interview and test application. Results: Statistically significant effects were found among the variables in the verified model, where empathy predicts aggression in the hostile context, but not in the vulnerable and safe context. In turn, empathy predicts forgiveness in the vulnerable and safe contexts, and aggression predicts forgiveness in the hostile model, but its effect in the vulnerable and safe context is not significant. Furthermore, empathy plays a key role in understanding forgiveness, given that it is associated with aggressive behaviors in the hostile contexts, whereas a forgiveness model should be differential in these contexts. Conclusions: The findings of this study provide empirical evidence that supports the importance of implementing strategies to improve empathy-related skills in children and adolescents, from the perspective of peace education and forgiveness. In addition, it was shown that aspects such as family climate, vulnerabilities of risk contexts and culture itself, can determine the development of socioemotional skills that favor forgiveness, empathy, and other interpersonal skills.

19.
Ir J Med Sci ; 2023 Nov 02.
Article de Anglais | MEDLINE | ID: mdl-37917306

RÉSUMÉ

BACKGROUND: Bedside teaching (BST) is a method of structured clinical teaching where the patient is central in education. We had previously explored the patients' perceptions of BST using both a qualitative research study and validation of a questionnaire, both showing strong support by patients for BST once basic rules of respect and confidentiality are followed. With the COVID-19 pandemic, clinical education transitioned to online/virtual learning. AIM: The aim of this study was to explore patients' attitudes towards reintroduction of BST as the pandemic restrictions have lifted. METHODS: Patients were invited to complete a validated questionnaire exploring their attitudes towards BST. A descriptive analysis was performed. Results were compared to a previous study performed before the COVID-19 pandemic. RESULTS: Four hundred patients consented to complete the questionnaires. Participants included women attending for antenatal (40%), postnatal (33%) and gynaecology issues (28%). Most patients (> 94%) reported that they were happy to be involved in BST. Patients believed that they should not be asked to participate in BST should they feel stressed or unwell (69%). These findings were the same as our previous study, performed prior to the pandemic. CONCLUSION: This study shows extensive and persisting patient support for BST. BST is unique in that it allows students to gain a deeper understanding of the disease which are hard to elicit through online/virtual methods.

20.
Cureus ; 15(10): e46886, 2023 Oct.
Article de Anglais | MEDLINE | ID: mdl-37954785

RÉSUMÉ

Paratesticular cystadenomas remain a very rare entity, typically presenting as a painless mass, often indistinguishable from the testicle. As such, the predominant management seems to be complete excision via various approaches, which often proves curative. Given its rarity, post-operative surveillance has not been standardized; most patients and providers elect a more conservative surveillance approach. Based on the available literature, this seems appropriate, given the lack of morbidity or recurrence associated with these types of tumors.

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