Search

This study draws on a longitudinal dataset of 277 UK learned societies covering the period 2015–2023 to provide evidence-based insights into the changing landscape of society publishing. It identifies a rapid decline in the number of self-published societies and an increasingly complex outsourcing landscape. New publishing partnerships are emerging with university presses and other not-for-profit entities rather than commercial publishers, while all but the largest UK societies have seen their publishing revenues decline in real terms since 2015. In general, UK learned society publishers are seeing their influence wane as market conditions favour publishing models focussed on quantity rather than quality. The decline of independent society publishers represents an unintended consequence of the transition to open access, but the trend towards increased outsourcing may be based on flawed assumptions. Analysis of financial data for a subset of 21 societies indicates that self-published societies have achieved sustained growth in their revenues from publishing while societies with publishing partners have seen a significant decline. For those societies with the means and the will to publish journals in their own right, this study bolsters the case for retaining, or even reclaiming, their independence.

IntroductionIn 2017, in a context of financial and patient care challenges, Moorfields Eye Hospital in the borough of Croydon launched the first Ophthalmology Integrated Care Contract in the United Kingdom.DescriptionA realistic, systematic approach is presented for an efficient implementation of an integrated care ophthalmology contract under a lead provider. The main elements of the new contract are portrayed.DiscussionA new healthcare contract that would lead to system-wide transformation requires significant time commitment, vision, shared narrative, leadership, multi-functional working culture, shared accountability of all participating parties and education and support of all parties involved. Key levers to elevate the quality of care are collaborative relationships between health professionals, investing in information and technology and facilitating bottom-up innovation.ConclusionSystem-wide changes such, as integrated care contracts are possible, although the interplay between context, design and implementation is more complex than expected.

Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder caused by the loss of lower motor neurons leading to progressive muscle weakness and atrophy. With the rise of novel therapies and early diagnosis on newborn screening (NBS), the natural history of SMA has been evolving. Earlier therapeutic interventions can modify disease outcomes and improve survival. The role of treatment in infants born preterm is an important question given the importance of early intervention. In this study, we discuss the case of an infant born at 32 weeks who was diagnosed with SMA on NBS and was treated with Spinraza® (Nusinersen) and Zolgensma® (Onasemnogene abeparvovec-xioi) within the first 2 months of life. With the scarce evidence that currently exists, clinicians should be aware of the efficacy and safety impact of early therapy particularly in the preterm infant.

Introduction: Hypertrophic cardiomyopathy (HCM) patients with left ventricular (LV) mid-cavity obstruction (LVMCO) often experience severe drug-refractory symptoms thought to be related to intraventricular obstruction. We tested whether ventricular pacing, guided by invasive haemodynamic assessment, reduced LVMCO and improved refractory symptoms. Methods: Between December 2008 and December 2017, 16 HCM patients with severe refractory symptoms and LVMCO underwent device implantation with haemodynamic pacing study to assess the effect on invasively defined LVMCO gradients. The effect on the gradient of atrioventricular (AV) synchronous pacing from sites including right ventricular (RV) apex and middle cardiac vein (MCV) was retrospectively assessed. Results: Invasive haemodynamic data were available in 14 of 16 patients. Mean pre-treatment intracavitary gradient was 77 ± 22 mmHg (in sinus rhythm) versus 21 ± 21 mmHg during pacing from optimal ventricular site (95% CI: −70.86 to −40.57, p

Borderline personality disorder (BPD) is a severe mental health disorder that is subject to significant stigmatisation. With language being a key reinforcer of stigma, this co‐produced study aims to explore the language use regarding BPD and its effect on those with BPD and carers. Recommendations to reduce stigmatisation are provided for both clinicians and researchers. Participants with BPD (consumer n = 33) and those supporting someone with BPD (carer n = 30) discussed their experience of hurtful and helpful language. Reflexive thematic analysis was used to analyse written and verbal responses into core conflictual relationship themes (CCRT) reflecting how different words were heard and experienced. All consumers and carers in the study reported experiences with stigmatising language. Feelings of inadequacy and frustration were common amongst consumers, specifically when they perceived others as trivialising their needs or not seeing them as a unique individual. Carers often reported feelings of frustration when they perceived others as blaming them or not acknowledging their needs. Both consumers and carers reported helpful language as being connecting, validating and accepting. Unhelpful communication patterns have negative consequences for the person's self‐understanding (i.e., self‐stigma) and their relationships with others, including the therapeutic alliance. A consideration of these communication patterns may foster the use of reflective positive language that is compassionate and hopeful. [ABSTRACT FROM AUTHOR]

This study compares knowledge, experience and understanding of genetic testing, and psychological outcomes among breast and ovarian cancer patients undergoing multi-gene panel testing via genetic counselor-mediated (GMT) or oncologist-mediated (OMT) testing models. A pragmatic, prospective survey of breast and ovarian cancer patients pursuing genetic testing between January 2017 and August 2019 was conducted at the Princess Margaret Cancer Centre in Toronto, Canada. A total of 120 (80 GMT; 40 OMT) individuals completed a survey administered one week following consent to genetic testing. Compared to OMT, the GMT cohort had higher median knowledge (8 vs. 9; p = 0.025) and experience/understanding scores (8.5 vs. 10; p < 0.001) at the time of genetic testing. Significant differences were noted in the potential psychological concerns experienced, with individuals in the GMT cohort more likely to screen positive in the hereditary predisposition domain of the Psychosocial Aspects of Hereditary Cancer tool (55% vs. 27.5%; p = 0.005), and individuals in the OMT cohort more likely to screen positive in the general emotions domain (65.0% vs. 38.8%; p = 0.007). The results of this study suggest that OMT can be implemented to streamline genetic testing; however, post-test genetic counseling should remain available to all individuals undergoing genetic testing, to ensure any psychologic concerns are addressed and that individuals have a clear understanding of relevant implications and limitations of their test results.

The best books on wartime Britain give a good sense of individual men and women suffering and celebrating, fearing the worst and hoping for something better. Luck, good or bad, [...]

Jerry White, The Battle of London 1939-45: Endurance, Heroism and Frailty under Fire London: Bodley Head, 2021 448 pages, [pounds sterling]30.00, ISBN 9781847923011 A lot of people probably know a [...]

In August 1939, MO asked its volunteer Observers 'to begin keeping day-to-day personal diaries of everything that happened to them, the conversations they heard and took part in, their general routine of life, and the impact of the war on it’. More than 450 individual diarists wrote for MO during the war. Each diarist had to work out their own way of ‘observing’, and to create a comfortable authorial voice expressing their very varied personal concerns and experiences. Common themes included: outbreak of war; evacuation of children; the blackout; the call-up for compulsory service; and what was thought of as ‘morale’. The diaries show keen minds struggling hard to make sense of the unfolding war news, striving to understand the deeper currents of history and future possibilities in international affairs. Other themes concerned the home front: the wartime difficulties around food and transport; attitudes to class, and the arrival of American troops; and the hopes and fears for post-war reconstruction. This article reflects on its authors' considerable experience of selecting and preparing MO diaries for publication. Editors play a prominent role in the presentation of modern life history. This involves technical and/or literary judgments (about the length and quality of texts, the provision of supplementary material), in relation to the requirements of particular publishing formats (commercial or scholarly). It also involves ethical questions. MO diaries, once submitted, could not be revised; their authors were promised anonymity. Hence publication often requires the consent of the diarists (though few are still alive) or their heirs; and measures are sometimes required to protect the identities of people mentioned.

Introduction: Diagnosing hemophilia B (HB) carrier status is important to manage bleeding in carriers and to prevent bleeding in potential offspring. Without a family history of hemophilia, diagnosing HB carrier status is challenging. Genetic testing is the gold‐standard, however it is reserved for individuals with a high suspicion of carrier status. Aims: To describe the distribution of activated partial thromboplastin time (aPTT) and factor IX coagulant (FIX:C) levels in HB carriers and assess the ratio of FIX:C to other Vitamin K dependent factors (FII:C, FVII:C, FX:C) as an indicator of HB carrier status. Methods: In this retrospective, single‐centre cohort study, subjects were included if they were obligate or genetically proven HB carriers. Distributions of aPTT and FIX:C were described and the relationship between FIX:C levels in carriers and severity of familial HB was analysed. Ratios of FIX:C to FII:C, FVII:C, FX:C were calculated. Results: Seventy‐two female HB carriers (median age: 34 years; IQR 24–43) were included. Median aPTT and FIX:C levels were 33.0 s [IQR 30.0–37.0] and 57 IU/dL [IQR 43–74]. Fifteen carriers (21%) had mild HB (FIX:C levels of 10–40 IU/dL). FIX:C levels trended higher in carriers of mild HB versus carriers of moderate/severe HB. In six carriers, the median ratio of FIX:C to other Vitamin K dependent factors was 0.44, with 92% of ratios being ≤ 0.75. Conclusion: aPTT and FIX:C levels were unreliable in diagnosing HB carrier status. A low ratio of FIX:C to other Vitamin K dependent factors may be a useful marker of HB carrier status. [ABSTRACT FROM AUTHOR]

BACKGROUND: Patients with refractory, symptomatic left ventricular (LV) mid-cavity obstructive (LVMCO) hypertrophic cardiomyopathy have few therapeutic options. Right ventricular pacing is associated with modest hemodynamic and symptomatic improvement, and LV pacing pilot data suggest therapeutic potential. We hypothesized that site-specific pacing would reduce LVMCO gradients and improve symptoms. METHODS: Patients with symptomatic-drug-refractory LVMCO were recruited for a randomized, blinded trial of personalized prescription of pacing (PPoP). Multiple LV and apical right ventricular pacing sites were assessed during an invasive hemodynamic study of multisite pacing. Patient-specific pacing-site and atrioventricular delays, defining PPoP, were selected on the basis of LVMCO gradient reduction and acceptable pacing parameters. Patients were randomized to 6 months of active PPoP or backup pacing in a crossover design. The primary outcome examined invasive gradient change with best-site pacing. Secondary outcomes assessed quality of life and exercise following randomization to PPoP. RESULTS: A total of 17 patients were recruited; 16 of whom met primary end points. Baseline New York Heart Association was 3±0.6, despite optimal medical therapy. Hemodynamic effects were assessed during pacing at the right ventricular apex and at a mean of 8 LV sites. The gradients in all 16 patients fell with pacing, with maximum gradient reduction achieved via LV pacing in 14 (88%) patients and right ventricular apex in 2. The mean baseline gradient of 80±29 mm Hg fell to 31±21 mm Hg with best-site pacing, a 60% reduction (P<0.0001). One cardiac vein perforation occurred in 1 case, and 15 subjects entered crossover; 2 withdrawals occurred during crossover. Of the 13 completing crossover, 9 (69%) chose active pacing in PPoP configuration as preferred setting. PPoP was associated with improved 6-minute walking test performance (328.5±99.9 versus 285.8±105.5 m; P=0.018); other outcome measures also indicated benefit with PPoP. CONCLUSIONS: In a randomized placebo-controlled trial, PPoP reduces obstruction and improves exercise performance in severely symptomatic patients with LVMCO. [ABSTRACT FROM AUTHOR]

We report a 9-year-old boy with lysinuric protein intolerance (LPI). He had developmental delay, short stature, failure to thrive, high-protein food aversion, hypothyroidism, growth hormone deficiency, features of hemophagocytic lymphohistiocytosis (HLH), decreased bone mineral density and multiple thoracic spine compression fractures on X-ray. LPI was suspected, but urine amino acid profile and normal orotic acid did not suggest biochemical diagnosis of LPI. Targeted next generation sequencing panel for HLH (including SLC7A7) was organized. Due to elevated glutamine in plasma amino acid analysis, a metabolic consultation was initiated and his asymptomatic post-prandial ammonia was 295 μmol/L. We then suspected n-acetylglutamate synthase or carbamoyl-phosphate synthase I deficiency due to marked hyperammonemia, elevated glutamine level, normal orotic acid, and normalization of ammonia at 2 h of carglumic acid (200 mg/kg/d). His targeted next generation sequencing panel for HLH revealed homozygous pathogenic variant in SLC7A7 ((NM_001126106.2): c.726G>A (p.Trp242*)) and confirmed the diagnosis of LPI. We emphasize the importance of genetic investigations in the diagnosis of LPI.