Publications by authors named "Richard Martin"

981 Publications

What is BPD today and in the next 50 years?

Am J Physiol Lung Cell Mol Physiol 2021 Oct 13. Epub 2021 Oct 13.

Division of Neonatology, Miller School of Medicine, University of Miami, Miami, Florida, United States.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1152/ajplung.00415.2021DOI Listing
October 2021

Intermittent Hypoxemia and Bronchopulmonary Dysplasia - Manifestations of Immature Respiratory Control and the Preterm Lung.

Am J Respir Crit Care Med 2021 Oct 11. Epub 2021 Oct 11.

University Hospitals, 24575, Pediatrics, Cleveland, Ohio, United States.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1164/rccm.202109-2077EDDOI Listing
October 2021

Caregivers' Use of Personal and Social Resourcefulness: Differences by Care Recipient Condition.

West J Nurs Res 2021 Oct 8:1939459211050951. Epub 2021 Oct 8.

Frances Payne Bolton School of Nursing, Case Western Reserve University, Cleveland, OH, USA.

Although family caregivers who use both the personal and social resourcefulness skills have the best health outcomes, it is unknown whether their tendency toward personal or social resourcefulness varies by their care recipient's condition. This cross-sectional study of existing data from 234 caregivers of persons with various conditions examined five item pairs from the Resourcefulness Scale with responses capturing personal and social resourcefulness in relation to anxiety, anger, sadness, indecision, and financial distress. Caregivers were categorized by the recipient's condition (amyotrophic lateral sclerosis, cancer, dementia, mental illness, Parkinson's disease, stroke, traumatic brain injury, other, or multiple conditions). Findings showed that across most groups, caregivers used both personal and social resourcefulness when angry, sad, or indecisive and personal resourcefulness when anxious or managing money. Caregivers of persons with cancer, traumatic brain injury, stroke, and mental illness differed. The findings provide a basis for future clinical trials across diverse caregiver groups.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1177/01939459211050951DOI Listing
October 2021

Simulation of anisoplanatic lucky look imaging and statistics through optical turbulence using numerical wave propagation.

Appl Opt 2021 Sep;60(25):G19-G29

This paper investigates anisoplanatic numerical wave simulation in the context of lucky look imaging. We demonstrate that numerical wave propagation can produce root mean square (RMS) wavefront distributions and probability of lucky look (PLL) statistics that are consistent with Kolmogorov theory. However, the simulated RMS statistics are sensitive to the sampling parameters used in the propagation window. To address this, we propose and validate a new sample spacing rule based on the point source bandwidth used in the propagation and the level of atmospheric turbulence. We use the tuned simulator to parameterize the wavefront RMS probability density function as a function of turbulence strength. The fully parameterized RMS distribution model is used to provide a way to accurately predict the PLL for a range of turbulence strengths. We also propose and validate a new parametric average lucky look optical transfer function (OTF) model that could be used to aid in image restoration. Our OTF model blends the theoretical diffraction-limited OTF and the average turbulence short exposure OTF. Finally, we show simulated images for several anisoplanatic imaging scenarios that reveal the spatially varying nature of the RMS values impacting local image quality.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1364/AO.427716DOI Listing
September 2021

SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.

Clin Endocrinol (Oxf) 2021 Sep 24. Epub 2021 Sep 24.

Department of Clinical Genetics, Birmingham Women's Hospital, Birmingham, UK.

Objective: Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly heritable tumours. Variants in succinate dehydrogenase (SDH) subunits are identified in approximately 25% of cases. However, clinical and genetic information of patients with SDHC variants are underreported.

Design: This retrospective case series collated data from 18 UK Genetics and Endocrinology departments.

Patients: Both asymptomatic and disease-affected patients with confirmed SDHC germline variants are included.

Measurements: Clinical data including tumour type and location, surveillance outcomes and interventions, SDHC genetic variant assessment, interpretation, and tumour risk calculation.

Results: We report 91 SDHC cases, 46 probands and 45 non-probands. Fifty-one cases were disease-affected. Median age at genetic diagnosis was 43 years (range: 11-79). Twenty-four SDHC germline variants were identified including six novel variants. Head and neck paraganglioma (HNPGL, n = 30, 65.2%), extra-adrenal paraganglioma (EAPGL, n = 13, 28.2%) and phaeochromocytomas (PCC) (n = 3, 6.5%) were present. One case had multiple PPGLs. Malignant disease was reported in 19.6% (9/46). Eight cases had non-PPGL SDHC-associated tumours, six gastrointestinal stromal tumours (GIST) and two renal cell cancers (RCC). Cumulative tumour risk (95% CI) at age 60 years was 0.94 (CI: 0.79-0.99) in probands, and 0.16 (CI: 0-0.31) in non-probands, respectively.

Conclusions: This study describes the largest cohort of 91 SDHC patients worldwide. We confirm disease-affected SDHC variant cases develop isolated HNPGL disease in nearly 2/3 of patients, EAPGL and PCC in 1/3, with an increased risk of GIST and RCC. One fifth developed malignant disease, requiring comprehensive lifelong tumour screening and surveillance.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/cen.14594DOI Listing
September 2021

Proposed Quality Performance Indicators (QPI's) for axillary lymphadenectomy in metastatic cutaneous melanoma.

Eur J Surg Oncol 2021 Aug 3. Epub 2021 Aug 3.

Cutaneous Surgical Oncologist, Head/Neck and General Surgeon, Melanoma Unit, Waitemata District Health Board, University of Auckland, New Zealand.

Introduction: Axillary lymph node clearance (ALNC) continues to play a central role in the management of melanoma. However, what defines an adequate lymphadenectomy remains unclear. We aimed to propose Quality Performance Indicators (QPIs) for ALNC and to determine if the number of lymph nodes (LNs) removed impacts survival.

Methods: We reviewed patients who underwent ALNC for melanoma at the Waitemata District Health Board and Melanoma Unit between February 2005 and October 2019, performed by two surgeons with standardized technique and surveillance.

Results: 105 patients with stage III melanoma were included, of which 73 had clinically evident disease and 32 had clinically occult disease. The mean total number of LNs excised was 29 (SD 10.90, range 10-76). On multivariate analysis, lymph node ratio (HR 4.48, 95% CI 1.55-12.93, p = 0.006), extracapsular spread (HR 2.53, 95% CI 1.06-6.05, p = 0.036) and distant recurrence (HR 11.24, 95% CI 3.79-33.31, p < 0.001) were significant predictors of mortality. The number of LNs removed did not predict survival outcomes, while the lymph node ratio did significantly predict survival outcomes. The regional recurrence rate was 3.8%.

Discussion: We propose that QPIs for ALNC in melanoma include a 90th percentile LN yield of greater than 15, a mean LN yield of 20, a regional recurrence rate of less than 10%, and an overall complication rate of less than 50%.

Conclusion: The establishment of QPIs can help ensure that surgical oncology patients receive the highest quality of care.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejso.2021.07.030DOI Listing
August 2021

Analysis of Maternal Prenatal Weight and Offspring Cognition and Behavior: Results From the Promotion of Breastfeeding Intervention Trial (PROBIT) Cohort.

JAMA Netw Open 2021 Aug 2;4(8):e2121429. Epub 2021 Aug 2.

Department of Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, United Kingdom.

Importance: Prenatal experiences can influence fetal brain development.

Objective: To examine associations of maternal prenatal body mass index (BMI) with cognition and behavior of offspring born full-term.

Design, Setting, And Participants: This cohort study examined follow-up data from a breastfeeding promotion intervention at 31 hospitals and affiliated polyclinics in the Republic of Belarus. Participants included 11 276 children who were evaluated from birth (1996-1997) to adolescence (2017-2019), with maternal BMI information available in prenatal medical records.

Exposures: Maternal BMI, calculated as weight in kilograms divided by height in meters squared, after 35 weeks gestation; secondary analyses examined maternal BMI at other time points and paternal BMI.

Main Outcomes And Measures: Trained pediatricians assessed child cognition with the Wechsler Abbreviated Scales of Intelligence (WASI) at 6.5 years and the computerized self-administered NeuroTrax battery at 16 years, both with an approximate mean (SD) of 100 (15). Parents and teachers rated behaviors at 6.5 years using the Strengths and Difficulties Questionnaire (SDQ, range 0-40). Mixed-effects linear regression analyses corrected for clustering, adjusted for the randomized intervention group and baseline parental sociodemographic characteristics, and were considered mediation by child BMI.

Results: Among 11 276 participants, 9355 women (83%) were aged 20 to 34 years, 10 128 (89.8%) were married, and 11 050 (98.0%) did not smoke during pregnancy. Each 5-unit increase in of maternal late-pregnancy BMI (mean [SD], 27.2 [3.8]) was associated with lower offspring WASI performance intelligence quotient (IQ) (-0.52 points; 95% CI, -0.87 to -0.17 points) at 6.5 years and lower scores on 5 of 7 NeuroTrax subscales and the global cognitive score at 16 years (-0.67 points; 95% CI, -1.06 to -0.29 points). Results were similar after adjustment for sociodemographic characteristics, pregnancy complications, and paternal BMI and were not mediated by child weight. Higher late pregnancy maternal BMI was also associated with more behavioral problems reported on the SDQ by teachers but not associated with parent-reported behaviors (externalizing behaviors: 0.13 points; 95% CI, 0.02 to 0.24 points; and total difficulties: 0.14 points, 95% CI, -0.02 to 0.30 points). Results were similar for maternal BMI measured in the first trimester or postpartum. In contrast, higher 6.5-year paternal BMI was associated with slightly better child cognition (WASI verbal IQ: 0.42 points; 95% CI, 0.02 to 0.82 points; NeuroTrax executive function score: 0.68 points; 95% CI, 0.24 to 1.12 points) and fewer teacher-reported behavioral problems (total difficulties: -0.29 points; 95% CI, -0.46 to -0.11 points).

Conclusions And Relevance: This cohort study supports findings from animal experiments and human observational studies in settings with higher maternal BMI and obesity rates. Higher maternal prenatal BMI may be associated with poorer offspring brain development, although residual confounding cannot be excluded.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamanetworkopen.2021.21429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8377565PMC
August 2021

When children refuse their anesthetic-restrain, deceive, or postpone?

Paediatr Anaesth 2021 09;31(9):1016-1017

Department of Anaesthesia, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/pan.14242DOI Listing
September 2021

Morbidity following thyroid and parathyroid surgery: Results from key performance indicator assessment at a high-volume centre in New Zealand.

ANZ J Surg 2021 09 17;91(9):1804-1812. Epub 2021 Aug 17.

North Shore Hospital, Waitemata District Health Board, Auckland, New Zealand.

Background: Complications following thyroid/parathyroid surgery include recurrent laryngeal nerve (RLN) injury, hypocalcaemia and return to theatre for haematoma evacuation. Rates of these form the basis of key performance indicators (KPI). An endocrine database, containing results from 1997, was established at the North Shore Hospital in Auckland, New Zealand. We aimed to measure complication rates by procedure (thyroid and parathyroid), explore a temporal change in our unit and compare our results against international literature.

Methods: A retrospective review of the database between July 1997 and February 2020 was performed. The results for each KPI were analysed in total and over consecutive time periods. A review of the literature was carried out to find international complication rates for comparison. A cumulative sum (CUSUM) analysis was performed to give visual feedback on performance.

Results: There were 1062 thyroidectomies and 336 parathyroidectomies from July 1997 to February 2020. Thyroid surgery results found rates of temporary/permanent RLN injury of 1.9%/0.3%, temporary/permanent hypocalcaemia of 22.3/2.5%, and return to theatre for haematoma evacuation of 1.1%. Parathyroid surgery results were, temporary RLN injury of 0.8% (no permanent injury), temporary/permanent hypocalcaemia of 1.7%/0.4%, and return to theatre for haematoma evacuation of 0.3%. CUSUM analysis found KPI results to be comparable with international literature.

Conclusion: Our unit's KPI results are comparable to published results in the literature. The use of this clinical database will help in future monitoring of performance and help drive improvement in the service. Embedding prospective data collection as routine practice allows for continuous improvement for the unit.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/ans.17099DOI Listing
September 2021

Colorectal cancer adjuvant chemotherapy trends among a nonelderly veteran cohort at a southern veterans health administration.

Cancer Rep (Hoboken) 2021 Aug 12:e1508. Epub 2021 Aug 12.

Veterans Health Administration-Tennessee Valley Healthcare System Geriatric Research Education Clinical Center (GRECC), HSR&D Center, Nashville, Tennessee, USA.

Background: For patients with high-risk stage II or stage III colorectal cancer (CRC), adjuvant chemotherapy (AC) improves survival, yet use varies substantially across medical oncology settings.

Aim: Utilization of guideline concordant CRC AC was assessed at a Veterans Health Administration (VHA) facility to determine quality improvement initiatives.

Methods And Results: The study was a retrospective review of CRC surgeries from January 1, 2000 to December 31, 2015 at a South Regional VHA. Inclusion criteria consisted of pathologic high-risk stage II or stage III CRC, with exclusion for age ≥80, age ≥75 hospitalized with major co-morbidity in the prior year, and death or discharge to hospice within 30 days of the index surgery. The primary predictor was year-group; partitioned 2000-2005, 2006-2010, 2011-2015 to account for changes in NCCN high risk stage II definitions. Primary outcome was AC receipt. Secondary outcome was reason for chemotherapy omission. Among 180 eligible surgeries (121 colon and 59 rectal cancers), patients were mostly male (96%), white (79%) and with median age 64 years. Overall, 117 (65%) received AC. Compared to 2000-2005, patients undergoing surgery between 2011 and 2015 were less likely to receive AC (odds ratio 0.35; 95% confidence interval [CI] 0.14-0.82), due to more patients declining AC (27% vs. 6%, p < .01) in the NCCN eligible cohort (N = 180), and (32% vs. 8%, p < .01) in an analysis of patients who completed appointments and had AC recommended by providers (N = 146).

Conclusions: Survival benefitting AC decreased over time among a nonelderly Veteran cohort eligible for AC. Evaluating care decisions and trends within other VHA facilities and outside the VHA are warranted.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/cnr2.1508DOI Listing
August 2021

Quantitative Bias Analysis of the Association between Occupational Radiation Exposure and Ischemic Heart Disease Mortality in UK Nuclear Workers.

Radiat Res 2021 Aug 9. Epub 2021 Aug 9.

Centre for Occupational and Environmental Health, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, United Kingdom.

The scientific question of whether protracted low-dose or low-dose-rate exposure to external radiation is causally related to the risk of circulatory disease continues to be an important issue for radiation protection. Previous analyses of a matched case-control dataset nested in a large cohort of UK nuclear fuel cycle workers indicated that there was little evidence that observed associations between external radiation dose and ischemic heart disease (IHD) mortality risk [OR = 1.35 (95% CI: 0.99-184) for 15-year-lagged exposure] could alternatively be explained by confounding from pre-employment tobacco smoking, BMI or blood pressure, or from socioeconomic status or occupational exposure to excessive noise or shiftwork. To improve causal inference about the observed external radiation dose and IHD mortality association, we estimated the potential magnitude and direction of non-random errors, incorporated sensitivity analyses and simulated bias effects under plausible scenarios. We conducted quantitative bias analyses of plausible scenarios based on 1,000 Monte Carlo samples to explore the impact of exposure measurement error, missing information on tobacco smoking, and unmeasured confounding, and assessed whether observed associations were reliant on the inclusion of specific matched pairs using bootstrapping with 10% of matched pairs randomly excluded in 1,000 samples. We further explored the plausibility that having been monitored for internal exposure, which was an important confounding factor in the case-control analysis for which models were adjusted, was indeed a confounding factor or whether it might have been the result of some form of selection bias. Consistent with the broader epidemiological evidence-base, these analyses provide further evidence that the dose-response association between cumulative external radiation exposure and IHD mortality is non-linear in that it has a linear shape plateauing at an excess risk of 43% (95% CI: 7-92%) on reaching 390 mSv. Analyses of plausible scenarios of patterns of missing data for tobacco smoking at start of employment indicated that this resulted in relatively little bias towards the null in the original analysis. An unmeasured confounder would have had to have been highly correlated (rp > 0.60) with cumulative external radiation dose to importantly bias observed associations. The confounding effect of "having been monitored for internal dose" was unlikely to have been a true confounder in a biological sense, but instead may have been some unknown factor related to differences over time and between sites in selection criteria for internal monitoring, possibly resulting in collider bias. Plausible patterns of exposure measurement error negatively biased associations regardless of the modeled scenario, but did not importantly change the shape of the observed dose-response associations. These analyses provide additional support for the hypothesis that the observed association between external radiation exposure and IHD mortality may be causal.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1667/RADE-21-00078.1DOI Listing
August 2021

Prevalence of traumatic psychological stress reactions in children and parents following paediatric surgery: a systematic review and meta-analysis.

BMJ Paediatr Open 2021 16;5(1):e001147. Epub 2021 Jul 16.

Department of Psychology and Mental Health Services, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Background: Children undergoing surgery and their parents are at risk of developing post-traumatic stress reactions. We systematically reviewed the literature to understand the prevalence of this issue, as well as potential risk factors.

Methods: We conducted a systematic review and meta-analysis, using PubMed, PsycInfo, Web of Science and Google Scholar, with searches conducted in February 2021. Papers were included if they measured post-traumatic stress in children and/or parents following paediatric surgery and were excluded if they did not use a validated measure of post-traumatic stress. Data were extracted from published reports.

Findings: Our search yielded a total of 1672 papers, of which 16 met our inclusion criteria. In meta-analysis, pooled studies of children estimated an overall prevalence of 16% meeting criteria for post-traumatic stress disorder post surgery (N=187, 95% CI 5% to 31%, I=80%). After pooling studies of parents, overall prevalence was estimated at 23% (N=1444, 95% CI 16% to 31%, I=91%). Prevalence rates were higher than those reported in the general population. Risk factors reported within studies included length of stay, level of social support and parental mental health.

Interpretation: There is consistent evidence of traumatic stress following surgery in childhood which warrants further investigation. Those delivering surgical care to children would benefit from a raised awareness of the potential for post-traumatic stress in their patients and their families, including offering screening and support.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1136/bmjpo-2021-001147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8287603PMC
July 2021

Contemporary management of locoregionally advanced melanoma in Australia and New Zealand and the role of adjuvant systemic therapy.

ANZ J Surg 2021 08;91 Suppl 2:3-13

Melanoma Institute Australia, The University of Sydney and Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.

Australia and New Zealand have the highest incidence and mortality rates for melanoma in the world. Local surgery is still the standard treatment of primary cutaneous melanoma, and it is therefore important that surgeons understand the optimal care pathways for patients with melanoma. Accurate staging is critical to ensure a reliable assessment of prognosis and to guide treatment selection. Sentinel node biopsy (SNB) plays an important role in staging and the provision of reliable prognostic estimates for patients with cutaneous melanoma. Patients with stage III melanoma have a substantial risk of disease recurrence following surgery, leading to poor long-term outcomes. Systemic immunotherapies and targeted therapies, known to be effective for stage IV melanoma, have now also been shown to be effective as adjuvant post-surgical treatments for resected stage III melanoma. These patients should be made aware of this and preferably managed in an integrated multidisciplinary model of care, involving the surgeon, medical oncologists and radiation oncologists. This review considers the impact of a recent update to the American Joint Committee on Cancer (AJCC) staging system, the role of SNB for patients with high-risk primary melanoma and recent advances in adjuvant systemic therapies for high-risk patients.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/ans.17051DOI Listing
August 2021

Response to Comment on Delphi Analysis of Relevant Comparators in a Cost-Effectiveness Model of Prostate Cancer Screening.

Pharmacoeconomics 2021 Aug 17;39(8):969-970. Epub 2021 Jul 17.

Health Economics Bristol (HEB), Population Health Sciences, Bristol Medical School, University of Bristol, 1-5 Whiteladies Road, Bristol, BS8 1NU, UK.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s40273-021-01062-1DOI Listing
August 2021

Anthelmintic resistance and homeostatic plasticity (Brugia malayi).

Sci Rep 2021 07 14;11(1):14499. Epub 2021 Jul 14.

Department of Biomedical Sciences, Iowa State University, Ames, IA, 50011, USA.

Homeostatic plasticity refers to the capacity of excitable cells to regulate their activity to make compensatory adjustments to long-lasting stimulation. It is found across the spectrum of vertebrate and invertebrate species and is driven by changes in cytosolic calcium; it has not been explored in parasitic nematodes when treated with therapeutic drugs. Here we have studied the adaptation of Brugia malayi to exposure to the anthelmintic, levamisole that activates muscle AChR ion-channels. We found three phases of the Brugia malayi motility responses as they adapted to levamisole: an initial spastic paralysis; a flaccid paralysis that follows; and finally, a recovery of motility with loss of sensitivity to levamisole at 4 h. Motility, calcium-imaging, patch-clamp and molecular experiments showed the muscle AChRs are dynamic with mechanisms that adjust their subtype composition and sensitivity to levamisole. This homeostatic plasticity allows the parasite to adapt resisting the anthelmintic.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-021-93911-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280109PMC
July 2021

Forming the Hematology-Oncology Collaborative Videoconferencing (CO-VID) Learning Initiative: Experiential Lessons Learned From a Novel Trainee-Led Multidisciplinary Virtual Learning Platform.

JCO Oncol Pract 2021 Jul 9:OP2000960. Epub 2021 Jul 9.

Division of Hematology Oncology, Department of Medicine, University of North Carolina Lineberger Comprehensive Cancer Center, Chapel Hill, NC.

Purpose: COVID-19 challenged medical practice and graduate medical education. Building on previous initiatives, we describe and reflect on the formative process and goals of the Hematology-Oncology Collaborative Videoconferencing Learning Initiative, a trainee-led multi-institutional virtual COVID-19 learning model.

Methods: Clinical fellows and faculty from 13 US training institutions developed consensus needs, goals, and objectives, recruited presenters, and generated a multidisciplinary COVID-19 curriculum. Weekly Zoom conferences consisted of two trainee-led instructional segments and a trainee-moderated faculty Q&A panel. Hematology-oncology training program faculty and trainees were the targeted audience. Leadership evaluations consisted of anonymized baseline and concluding mixed methods surveys. Presenter evaluations consisted of session debriefs and two structured focus groups. Conference evaluations consisted of attendance, demographics, and pre- or postmultiple-choice questions on topic learning objectives.

Results: In 6 weeks, the initiative produced five conferences: antivirals, anticoagulation, pulmonology, provider resilience, and resource scarcity ethics. The average attendance was 100 (range 57-185). Among attendees providing both pre- and postconference data, group-level knowledge appeared to increase: antiviral (n = 46) pre-/postcorrect 82.6%/97.8% and incorrect 10.9%/2.2%, anticoagulation (n = 60) pre-/postcorrect 75%/93.3% and incorrect 15%/6.7%, and pulmonary (n = 21) pre-/postcorrect 66.7%/95.2% and incorrect 33.3%/4.8%. Although pulmonary management comfort appeared to increase, comfort managing of antivirals and anticoagulation was unchanged. At the conclusion of the pilot, leadership trainees reported improved self-confidence organizing multi-institutional collaborations, median (interquartile range) 58.5 (50-64) compared with baseline 34 (26-39), but did not report improved confidence in other educational or leadership skills.

Conclusion: During crisis, trainees built a multi-institutional virtual education platform for the purposes of sharing pandemic experiences and knowledge. Accomplishment of initiative goals was mixed. Lessons learned from the process and goals may improve future disaster educational initiatives.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1200/OP.20.00960DOI Listing
July 2021

Providing Balanced Information about Options in Patient Decision Aids: An Update from the International Patient Decision Aid Standards.

Med Decis Making 2021 10 1;41(7):780-800. Epub 2021 Jul 1.

Center for Shared Decision Making, Lillebaelt Hospital-University Hospital of Southern Denmark, Vejle, Denmark.

Background: The objective of this International Patient Decision Aids Standard (IPDAS) review is to update and synthesize theoretical and empirical evidence on how balanced information can be presented and measured in patient decision aids (PtDAs).

Methods: A multidisciplinary team conducted a scoping review using 2 search strategies in multiple electronic databases evaluating the ways investigators defined and measured the balance of information provided about options in PtDAs. The first strategy combined a search informed by the Cochrane Review of the Effectiveness of Decision Aids with a search on balanced information. The second strategy repeated the search published in the 2013 IPDAS update on balanced presentation.

Results: Of 2450 unique citations reviewed, the full text of 168 articles was screened for eligibility. Sixty-four articles were included in the review, of which 13 provided definitions of balanced presentation, 8 evaluated mechanisms that may introduce bias, and 42 quantitatively measured balanced with methods consistent with the IPDAS criteria in PtDAs. The revised definition of balanced information is, "Objective, complete, salient, transparent, evidence-informed, and unbiased presentation of text and visual information about the condition and all relevant options (with important elements including the features, benefits, harms and procedures of those options) in a way that does not favor one option over another and enables individuals to focus attention on important elements and process this information."

Conclusions: Developers can increase the balance of information in PtDAs by informing their structure and design elements using the IPDAS checklist. We suggest that new PtDA components pertaining to balance be evaluated for cognitive bias with experimental methods as well by objectively evaluating patients' and content experts' beliefs from multiple perspectives.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1177/0272989X211021397DOI Listing
October 2021

Development and Testing of a Spiritual Resourcefulness Scale: Holistic Expansion in Operationalizing the Resourcefulness Construct.

J Holist Nurs 2021 Jun 18:8980101211025370. Epub 2021 Jun 18.

2546Ursuline College.

Research supports holistic expansion of the construct of resourcefulness by adding spiritual practices to the existing personal and social dimensions. This study describes the development and testing of items to measure spiritual resourcefulness. Study phases were: (1) focus group development of item stems and responses; (2) expert testing; (3) scale construction; (4) field testing in 234 family caregivers; and (5) psychometric analysis to identify items for inclusion in a final scale. A focus group developed 40 item stems with potential responses reflecting three conceptual components of spiritual practices (rational, ritualistic, and relational). Content experts selected the best response for each item. A six-point Likert scale consistent with the Resourcefulness Scale was constructed. Data from field testing were factor analyzed. The best solution revealed two factors containing 12 items. Ritualistic and relational items loaded together (44.7% variance explained). Rational items loaded separately (19.5% variance explained). Higher-order factor analysis indicated the two subscales reflected a single construct (71.93% variance explained;  = .44, < .001). Availability of a psychometrically sound measure of spiritual resourcefulness is critical to expand resourcefulness training interventions to be more holistic. Clinical interventions can be enriched by including strategies to enhance personal, social, and spiritual resourcefulness skills.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1177/08980101211025370DOI Listing
June 2021

Filaricidal activity of Daniellia oliveri and Psorospermum febrifugum extracts.

Parasit Vectors 2021 Jun 7;14(1):305. Epub 2021 Jun 7.

Department of Biomedical Sciences, College of Veterinary Medicine, Iowa State University, Ames, IA, USA.

Background: Drugs currently used for controlling onchocerciasis and lymphatic filariasis (LF) are mainly microfilaricidal, with minimal or no effect on the adult worms. For efficient management of these diseases, it is necessary to search for new drugs with macrofilaricidal activities that can be used singly or in combination with existing ones. Daniellia oliveri and Psorospermum febrifugum are two plants commonly used in the local management of these infections in Bambui, a township in the North West Region of Cameroon, but there is currently no documented scientific evidence to support their claimed anthelmintic efficacy and safety. The aim of this study was to provide evidence in support of the search for means to eliminate these diseases by screening extracts and chromatographic fractions isolated from these plants for efficacy against the parasitic roundworms Onchocerca ochengi and Brugia pahangi.

Methods: The viability of O. ochengi adult worms was assessed using the MTT/formazan assay. Fully confluent monkey kidney epithelial cells (LLC-MK2) served as the feeder layer for the O. ochengi microfilariae (mfs) assays. Viability of the mfs was assessed by microscopic examination for mean motility scoring (relative to the negative control) every 24 h post addition of an extract. The Worminator system was used to test the effects of the extracts on adult B. pahangi motility, and mean motility units were determined for each worm. Cytotoxicity of the active extracts on N27 cells was assessed using the MTS assay.

Results: Extracts from D. oliveri and P. febrifugum were effective against the adult roundworms O. ochengi and B. pahangi. Interestingly, extracts showing macrofilaricidal activities against O. ochengi also showed activity against O. ochengi mfs. The hexane stem bark extract of D. oliveri (DO) was more selective for adult O. ochengi than for mfs, with a half maximal and 100% inhibitory concentration (IC and IC, respectively) against adult O. ochengi of 13.9 and 31.3 μg/ml, respectively. The in vitro cytotoxicity of all active extracts on N27 cells showed selective toxicity for parasites (selectivity index > 1). Bioassay-guided fractionation of the extracts yielded fractions with activity against adult B. pahangi, thus confirming the presence of bioactive principles in the plant extracts.

Conclusions: Our study supports the use of D. oliveri and P. febrifugum in the traditional treatment of onchocerciasis and LF. The further purification of active extracts from these plants could yield lead compounds for filarial drug discovery and development.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13071-021-04759-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8186089PMC
June 2021

Upgrades to intensive care: The effects of COVID-19 on decision-making in the emergency department.

Am J Emerg Med 2021 Jun 3;49:100-103. Epub 2021 Jun 3.

Department of Emergency Medicine, Temple University Hospital, 1316 W. Ontario Street, 10(th) floor Jones Hall, Philadelphia, PA 19140, United States. Electronic address:

Introduction: The initial surge of critically ill patients in the COVID-19 pandemic severely disrupted processes at acute care hospitals. This study examines the frequency and causes for patients upgraded to intensive care unit (ICU) level care following admission from the emergency department (ED) to non-critical care units.

Methods: The number of ICU upgrades per month was determined, including the percentage of upgrades noted to have non-concordant diagnoses. Charts with non-concordant diagnoses were examined in detail as to the ED medical decision-making, clinical circumstances surrounding the upgrade, and presence of a diagnosis of COVID-19. For each case, a cognitive bias was assigned.

Results: The percentage of upgraded cases with non-concordant diagnoses increased from a baseline range of 14-20% to 41.3%. The majority of upgrades were due to premature closure (72.2%), anchoring (61.1%), and confirmation bias (55.6%).

Conclusion: Consistent with the behavioral literature, this suggests that stressful ambient conditions affect cognitive reasoning processes.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajem.2021.05.078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172306PMC
June 2021

Sleep Interventions for Informal Caregivers of Persons with Dementia: A Systematic Review.

West J Nurs Res 2021 Jun 4:1939459211019033. Epub 2021 Jun 4.

Frances Payne Bolton School of Nursing, Case Western Reserve University, Cleveland, OH, USA.

We conducted a systematic review on the state of the science related to sleep interventions for informal caregivers of persons with Alzheimer's disease or related dementia (ADRD). This review included English-written, peer-reviewed articles that studied the effect of an intervention on sleep health outcomes for informal caregivers of persons with ADRD. Our search yielded 15 articles that met our a priori inclusion criteria. We categorized interventions into four categories: environmental, physical, cognitive, and collaborative. Intervention effects were heterogeneous, with most yielding nonsignificant sleep health effects. There is a need for theoretically sound and robust sleep health interventions for informal caregiver samples. Future research in this area could benefit from the use of more controlled, pragmatic, and adaptive research designs, and the use of objective measures that conceptually represent the multiple domains of sleep health to enhance intervention quality.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1177/01939459211019033DOI Listing
June 2021

The molecular and epigenetic mechanisms of innate lymphoid cell (ILC) memory and its relevance for asthma.

J Exp Med 2021 07 2;218(7). Epub 2021 Jun 2.

Division of Allergy & Immunology, Department of Medicine, National Jewish Health, Denver, CO.

Repetitive exposure of Rag1-/- mice to the Alternaria allergen extract generated a form of memory that elicited an asthma-like response upon a subthreshold recall challenge 3-15 wk later. This memory was associated with lung ICOS+ST2+ ILC2s. Genetic, pharmacologic, and antibody-mediated inhibition and adoptive transfer established an essential role for ILC2s in memory-driven asthma. ATAC-seq demonstrated a distinct epigenetic landscape of memory ILC2s and identified Bach2 and AP1 (JunD and Fosl2) motifs as major drivers of altered gene accessibility. scRNA-seq, gene knockout, and signaling studies suggest that repetitive allergenic stress induces a gene repression program involving Nr4a2, Zeb1, Bach2, and JunD and a preparedness program involving Fhl2, FosB, Stat6, Srebf2, and MPP7 in memory ILC2s. A mutually regulated balance between these two programs establishes and maintains memory. The preparedness program (e.g., Fhl2) can be activated with a subthreshold cognate stimulation, which down-regulates repressors and activates effector pathways to elicit the memory-driven phenotype.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1084/jem.20201354DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8176441PMC
July 2021

Workplace interventions that aim to improve employee health and well-being in male-dominated industries: a systematic review.

Occup Environ Med 2021 May 25. Epub 2021 May 25.

Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.

The published evidence on whether workplace health and well-being interventions are as effective in male-dominated industries compared with mixed-gender environments has not been synthesised. We performed a systematic review of workplace interventions aimed at improving employee health and well-being in male-dominated industries. We searched Web of Knowledge, PubMed, Medline, Cochrane Database and Web of Science for articles describing workplace interventions in male-dominated industries that address employee health and well-being. The primary outcome was to determine the effectiveness of the intervention and the process evaluation (intervention delivery and adherence). To assess the quality of evidence, Cochrane Collaboration's Risk of Bias Tool was used. Due to the heterogeneity of reported outcomes, meta-analysis was performed for only some outcomes and a narrative synthesis with albatross plots was presented. After full-text screening, 35 studies met the eligibility criteria. Thirty-two studies delivered the intervention face-to-face, while two were delivered via internet and one using postal mail. Intervention adherence ranged from 50% to 97%, dependent on mode of delivery and industry. 17 studies were considered low risk of bias. Albatross plots indicated some evidence of positive associations, particularly for interventions focusing on musculoskeletal disorders. There was little evidence of intervention effect on body mass index and systolic or diastolic blood pressure. Limited to moderate evidence of beneficial effects was found for workplace health and well-being interventions conducted within male-dominated industries. Such interventions in the workplace can be effective, despite a different culture in male-dominated compared with mixed industries, but are dependent on delivery, industry and outcome. CRD42019161283.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1136/oemed-2020-107314DOI Listing
May 2021

Calcium-sensing receptor and CPAP-induced neonatal airway hyperreactivity in mice.

Pediatr Res 2021 May 6. Epub 2021 May 6.

Department of Pediatrics, Division of Neonatology, Rainbow Babies & Children's Hospital, Case Western Reserve University, Cleveland, OH, USA.

Background: Continuous positive airway pressure (CPAP) in preterm infants is initially beneficial, but animal models suggest longer term detrimental airway effects towards asthma. We used a neonatal CPAP mouse model and human fetal airway smooth muscle (ASM) to investigate the role of extracellular calcium-sensing receptor (CaSR) in these effects.

Methods: Newborn wild type and smooth muscle-specific CaSR mice were given CPAP for 7 days via a custom device (mimicking CPAP in premature infants), and recovered in normoxia for another 14 days (representing infants at 3-4 years). Airway reactivity was tested using lung slices, and airway CaSR quantified. Role of CaSR was tested using NPS2143 (inhibitor) or siRNA in WT mice. Fetal ASM cells stretched cyclically with/without static stretch mimicking breathing and CPAP were analyzed for intracellular Ca ([Ca]) responses, role of CaSR, and signaling cascades.

Results: CPAP increased airway reactivity in WT but not CaSR mice, increasing ASM CaSR. NPS2143 or CaSR siRNA reversed CPAP effects in WT mice. CPAP increased fetal ASM [Ca], blocked by NPS2143, and increased ERK1/2 and RhoA suggesting two mechanisms by which stretch increases CaSR.

Conclusions: These data implicate CaSR in CPAP effects on airway function with implications for wheezing in former preterm infants.

Impact: Neonatal CPAP increases airway reactivity to bronchoconstrictor agonist. CPAP increases smooth muscle expression of the extracellular calcium-sensing receptor (CaSR). Inhibition or absence of CaSR blunts CPAP effects on contractility. These data suggest a causal/contributory role for CaSR in stretch effects on the developing airway. These data may impact clinical recognition of the ways that CPAP may contribute to wheezing disorders of former preterm infants.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41390-021-01540-4DOI Listing
May 2021

Proposed quality performance indicators of sentinel lymph node biopsy for cutaneous melanoma.

ANZ J Surg 2021 May 6. Epub 2021 May 6.

Department of Cutaneous Oncology, North Shore Hospital, Waitematā District Health Board, Auckland, New Zealand.

Background: Melanoma is a leading cause of morbidity and mortality in Australia and New Zealand. New Zealand has the highest melanoma incidence in the world alongside Australia at 54 per 100 000 persons. The aim of this study is to conduct a retrospective quality audit of sentinel lymph nodal biopsy (SLNB) practices from 2007 to 2019 of a high-volume melanoma surgeon. Primary outcome was false negative rate (FNR). Secondary outcomes were sentinel node (SN) identification and removal rate, and complication rates.

Methods: A database was maintained, containing n = 553 consecutive SLNB's for cutaneous melanoma from 31 August 2007 to 31 August 2019. Patient characteristics and details of the primary lesion, sentinel lymph node biopsy, recurrence and complications were recorded.

Results: SN's were successfully identified in 444 (99.6%) out of 446 patients with an FNR of 9.1%. Positive SN's were identified in 70 (12.7%) SLNB's. Complications occurred in 76 out of 553 (13.7%) SLNB's. A review of internationally published literature reveals an SN identification rate of 94.4-99.5% with an FNR of 4.0-37.5%. SLNB is the best staging tool for melanoma and gives potential access to adjuvant systemic treatment if >1 mm deposits are found. It is a day-stay procedure with a low-complication rate.

Conclusion: SLNB is a safe and reliable procedure utilized for cutaneous melanoma. We propose our data should be used alongside international SN series to establish Quality Performance Indicators to improve melanoma management.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/ans.16914DOI Listing
May 2021

Submillimetre mechanistic designs of termite-built structures.

J R Soc Interface 2021 05 5;18(178):20200957. Epub 2021 May 5.

School of Civil Engineering, The University of Sydney, 2006, Sydney, Australia.

Termites inhabit complex underground mounds of intricate stigmergic labyrinthine designs with multiple functions as nursery, food storage and refuge, while maintaining a homeostatic microclimate. Past research studied termite building activities rather than the actual material structure. Yet, prior to understanding how multi-functionality shaped termite building, a thorough grasp of submillimetre mechanistic architecture of mounds is required. Here, we identify for via granulometry and Fourier transform infrared spectroscopy analysis, preferential particle sizes related to coarse silts and unknown mixtures of organic/inorganic components. High-resolution micro-computed X-ray tomography and microindentation tests reveal wall patterns of filigree laminated layers and sub-millimetre porosity wrapped around a coarse-grained inner scaffold. The scaffold geometry, which is designed of a lignin-based composite and densely biocementitious stercoral mortar, resembles that of trabecula cancellous bones. Fractal dimension estimates indicate multi-scaled porosity, important for enhanced evaporative cooling and structural stability. The indentation moduli increase from the outer to the inner wall parts to values higher than those found in loose clays and which exceed locally the properties of anthropogenic cementitious materials. Termites engineer intricately layered biocementitious composites of high elasticity. The multiple-scales and porosity of the structure indicate a potential to pioneer bio-architected lightweight and high-strength materials.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1098/rsif.2020.0957DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8097512PMC
May 2021

Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: A Mendelian randomization study.

PLoS Genet 2021 04 22;17(4):e1009525. Epub 2021 Apr 22.

MRC Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, United Kingdom.

Head and neck squamous cell carcinoma (HNSCC), which includes cancers of the oral cavity and oropharynx, is a cause of substantial global morbidity and mortality. Strategies to reduce disease burden include discovery of novel therapies and repurposing of existing drugs. Statins are commonly prescribed for lowering circulating cholesterol by inhibiting HMG-CoA reductase (HMGCR). Results from some observational studies suggest that statin use may reduce HNSCC risk. We appraised the relationship of genetically-proxied cholesterol-lowering drug targets and other circulating lipid traits with oral (OC) and oropharyngeal (OPC) cancer risk using two-sample Mendelian randomization (MR). For the primary analysis, germline genetic variants in HMGCR, NPC1L1, CETP, PCSK9 and LDLR were used to proxy the effect of low-density lipoprotein cholesterol (LDL-C) lowering therapies. In secondary analyses, variants were used to proxy circulating levels of other lipid traits in a genome-wide association study (GWAS) meta-analysis of 188,578 individuals. Both primary and secondary analyses aimed to estimate the downstream causal effect of cholesterol lowering therapies on OC and OPC risk. The second sample for MR was taken from a GWAS of 6,034 OC and OPC cases and 6,585 controls (GAME-ON). Analyses were replicated in UK Biobank, using 839 OC and OPC cases and 372,016 controls and the results of the GAME-ON and UK Biobank analyses combined in a fixed-effects meta-analysis. We found limited evidence of a causal effect of genetically-proxied LDL-C lowering using HMGCR, NPC1L1, CETP or other circulating lipid traits on either OC or OPC risk. Genetically-proxied PCSK9 inhibition equivalent to a 1 mmol/L (38.7 mg/dL) reduction in LDL-C was associated with an increased risk of OC and OPC combined (OR 1.8 95%CI 1.2, 2.8, p = 9.31 x10-05), with good concordance between GAME-ON and UK Biobank (I2 = 22%). Effects for PCSK9 appeared stronger in relation to OPC (OR 2.6 95%CI 1.4, 4.9) than OC (OR 1.4 95%CI 0.8, 2.4). LDLR variants, resulting in genetically-proxied reduction in LDL-C equivalent to a 1 mmol/L (38.7 mg/dL), reduced the risk of OC and OPC combined (OR 0.7, 95%CI 0.5, 1.0, p = 0.006). A series of pleiotropy-robust and outlier detection methods showed that pleiotropy did not bias our findings. We found limited evidence for a role of cholesterol-lowering in OC and OPC risk, suggesting previous observational results may have been confounded. There was some evidence that genetically-proxied inhibition of PCSK9 increased risk, while lipid-lowering variants in LDLR, reduced risk of combined OC and OPC. This result suggests that the mechanisms of action of PCSK9 on OC and OPC risk may be independent of its cholesterol lowering effects; however, this was not supported uniformly across all sensitivity analyses and further replication of this finding is required.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1009525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8096036PMC
April 2021

Circulating Levels of Testosterone, Sex Hormone Binding Globulin and Colorectal Cancer Risk: Observational and Mendelian Randomization Analyses.

Cancer Epidemiol Biomarkers Prev 2021 Jul 20;30(7):1336-1348. Epub 2021 Apr 20.

Section of Nutrition and Metabolism, International Agency for Research on Cancer, Lyon, France.

Background: Epidemiologic studies evaluating associations between sex steroid hormones and colorectal cancer risk have yielded inconsistent results. To elucidate the role of circulating levels of testosterone, and sex hormone-binding globulin (SHBG) in colorectal cancer risk, we conducted observational and Mendelian randomization (MR) analyses.

Methods: The observational analyses included 333,530 participants enrolled in the UK Biobank with testosterone and SHBG measured. HRs and 95% confidence intervals (CI) were estimated using multivariable Cox proportional hazards models. For MR analyses, genetic variants robustly associated with hormone levels were identified and their association with colorectal cancer (42,866 cases/42,752 controls) was examined using two-sample MR.

Results: In the observational analysis, there was little evidence that circulating levels of total testosterone were associated with colorectal cancer risk; the MR analyses showed a greater risk for women (OR per 1-SD = 1.09; 95% CI, 1.01-1.17), although pleiotropy may have biased this result. Higher SHBG concentrations were associated with greater colorectal cancer risk for women (HR per 1-SD = 1.16; 95% CI, 1.05-1.29), but was unsupported by the MR analysis. There was little evidence of associations between free testosterone and colorectal cancer in observational and MR analyses.

Conclusions: Circulating concentrations of sex hormones are unlikely to be causally associated with colorectal cancer. Additional experimental studies are required to better understand the possible role of androgens in colorectal cancer development.

Impact: Our results from large-scale analyses provide little evidence for sex hormone pathways playing a causal role in colorectal cancer development..
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1158/1055-9965.EPI-20-1690DOI Listing
July 2021

Long-term follow-up of a patient with JAG1-associated retinopathy.

Doc Ophthalmol 2021 Oct 20;143(2):237-247. Epub 2021 Apr 20.

Newcastle Eye Centre, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK.

Purpose: To report the long-term structural and functional changes in the posterior segments of an adult with an unusual retinal dystrophy caused by a novel mutation in JAG1.

Methods: A 33-year-old female underwent comprehensive ophthalmic examination, including best corrected visual acuity (BCVA) measurement, dilated fundus imaging (wide-angle fundus colour and short wavelength autofluorescence imaging), macular and peripheral spectral-domain optical coherence tomography (SD-OCT) and electroretinography (ERG) at baseline and 10 years later at the age of 43. The patient also underwent systemic review with detailed cardiac, brain and renal investigations. During follow-up, genetic analysis using whole-exome sequencing was performed on the patient and her parents to identify disease-causing variants.

Results: The patient's main complaint was of a recent onset of bilateral photophobia and blurred vision in the left eye. On examination, the most striking retinal finding was of bilateral well-demarcated, anterior circumferential chorioretinal atrophy with scattered pigment clumping from the mid periphery to the ora. In addition, she had posterior pole RPE hypopigmentation, peripapillary chorioretinal atrophy, left macular choroidal folds and retinal vasculature tortuosity with atypical branching. Her retinal electrophysiology was consistent with a cone rod photoreceptor dystrophy and left macular dysfunction. Ten years later, her BCVA, the anterior circumferential chorioretinal atrophy and her visual field constriction all remained stable. Her retinal electrophysiology demonstrated deterioration of left rod function, while cone dysfunction remained stable. Macular function deteriorated in both eyes. During follow-up, she was also noted to have progressive aortic root dilatation, posterior embryotoxon and an x ray diagnosis of butterfly vertebrae. Whole-exome sequencing revealed a novel c.2412C > A p.(Tyr804Ter) truncating mutation in JAG1 that was predicted to be pathogenic and suggested a diagnosis of Alagille syndrome.

Conclusion: This is the first report of the long-term detailed follow-up of a patient with Alagille syndrome whose most striking ophthalmic finding was bilateral well-demarcated, anterior circumferential chorioretinal atrophy. During follow-up, this finding remained stable, suggesting that this may be developmental in origin. This is in contrast with the progressive deterioration in the posterior pole retinal and macular function.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10633-021-09836-wDOI Listing
October 2021

Effect of personal protective equipment on perioperative anxiety in children and young people.

Br J Anaesth 2021 06 20;126(6):e223-e224. Epub 2021 Mar 20.

Alder Hey Children's Hospital NHS Foundation Trust, Liverpool, UK.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bja.2021.03.006DOI Listing
June 2021
-->