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Dementia has certain features relevant to values-based medicine. It is a progressive condition, so that a person’s choices and preferences may change over time, and they may require increasing input from others over time. Furthermore, our perceptions of diseases like Alzheimer’s, which cause dementia, are changing over time, along with the philosophy of care. Although memory impairment is the commonest presenting feature of dementia, it is by no means the only issue that arises during the course of the condition. This chapter examines four broad themes in the dementia pathway: early dementia; changes in behaviour; legal and ethical issues; and advanced dementia and care. Vignettes are used to discuss some of the typical issues that arise in clinical situations and how these can be addressed through the application of both evidence- and values-based practice.
Biomarkers alone cannot resolve psychiatry’s diagnostic challenges, particularly the boundary between normal variation and pathology. Diagnosis should prioritise the subjective, phenomenological experiences of patients rather than solely relying on biological evidence, emphasising a framework centred on suffering, debilitation and societal impact.
The ‘overview effect’ was described by astronauts who saw the earth from space and found this gave them a very different perspective. This effect is a shift in worldview, and it has been suggested that politicians be sent to space to change their narrow perspectives. In a similar vein, it is crucial that psychiatrists have an overview of their patients so that their perspectives on patient care enable them to deal with the patient from different angles. In this editorial, the overview effect is described in the context of clinical care.
Female genital schistosomiasis (FGS) is a chronic disease manifestation of the waterborne parasitic infection Schistosoma haematobium that affects up to 56 million women and girls, predominantly in sub-Saharan Africa. Starting from early childhood, this stigmatizing gynaecological condition is caused by the presence of Schistosoma eggs and associated toxins within the genital tract. Schistosoma haematobium typically causes debilitating urogenital symptoms, mostly as a consequence of inflammation, which includes bleeding, discharge and lower abdominal pelvic pain. Chronic complications of FGS include adverse sexual and reproductive health and rights outcomes such as infertility, ectopic pregnancy and miscarriage. FGS is associated with prevalent human immunodeficiency virus and may increase the susceptibility of women to high-risk human papillomavirus infection. Across SSA, and even in clinics outside endemic areas, the lack of awareness and available resources among both healthcare professionals and the public means FGS is underreported, misdiagnosed and inadequately treated. Several studies have highlighted research needs and priorities in FGS, including better training, accessible and accurate diagnostic tools, and treatment guidelines. On 6 September, 2024, LifeArc, the Global Schistosomiasis Alliance and partners from the BILGENSA Research Network (Genital Bilharzia in Southern Africa) convened a consultative, collaborative and translational workshop: ‘Female Genital Schistosomiasis: Translational Challenges and Opportunities’. Its ambition was to identify practical solutions that could address these research needs and drive appropriate actions towards progress in tackling FGS. Here, we present the outcomes of that workshop – a series of discrete translational actions to better galvanize the community and research funders.
Non-coding RNAs (ncRNAs) are transcribed RNA molecules that do not encode proteins but regulate diverse biological processes. Dysregulation of ncRNAs is implicated in cancer, where chemical modifications such as N6-methyladenosine (m6A), N4-acetylcytidine (ac4C), and glycosylation critically influence their function. However, these modifications, as precise regulators of ncRNA activity, have been less well-documented and understood in tumorigenesis and cancer progression.
Methods
This article systematically analyzes the roles of chemically modified ncRNAs – ribosomal RNA (rRNA), circular RNA (circRNA) and others – in cancer biology, synthesizingevidence from published studies on their mechanistic involvement in malignancy.
Results
We reveal how specific chemical modifications drive oncogenesis, impact cancer diagnosis, and affect therapeutic responses, while also exploring their prognostic potential. Furthermore, we highlight emerging connections between ncRNA epitranscriptomics and cancer.
Conclusions
This review provides novel insights into ncRNA epitranscriptomics as emerging biomarkers and intervention targets for precision oncology.
Presents classification debates in psychiatry historically as a struggle between the classic perspective, which seeks to classify, and the romantic perspective, which rebels against classification. Presents the DSM-III project as an achievement of the classic perspective, which resolved one crisis only to bring forth another.
This book chapter provides an overview of chronic endometritis (CE), a condition which is increasingly recognized as being associated with recurrent implantation failure, recurrent miscarriage, and fetal demise. The diagnosis of CE is challenging due to the presence of various cell types in the endometrial stroma, making the identification of plasma cells essential. The optimal timing and diagnostic evaluation of endometrial biopsy are still being researched, while immunohistological staining may improve the identification of plasma cells. Hysteroscopy and endometrial culture may also aid in diagnosis and guide antibiotic selection. Although antibiotic treatment has shown improved pregnancy outcomes in cases of CE, there is no established ideal regimen. Overall, this chapter provides valuable information on CE and highlights the need for continued research to improve diagnosis and treatment.
Miscarriage is the most common complication of pregnancy and is associated with significant emotional, social and economic impact. The diagnosis of miscarriage is made with transvaginal ultrasound examination following rigid diagnostic criteria which ensures a safe and accurate assessment for all women. This chapter outlines the evolution of national and international guidance on the ultrasound diagnosis of miscarriage highlighting when and why changes in practice have occurred. Diagnostic criteria are illustrated with ultrasound images and practical guidance is offered through inclusion of an annotated flowchart incorporating the most up to date evidence to protect women from the risk of inappropriate intervention. Once the diagnosis of miscarriage is made options for treatment include expectant, medical and surgical management. The chapter outlines fundamental information to discuss with women to facilitate informed decision making and provides guidance on the practical aspects of management of miscarriage.
Promoting a ‘timely’ diagnosis is a global policy directive.
Aims
This review adopts an intersectional approach, visually mapping the existing literature to highlight gaps in the evidence base on barriers and facilitators to dementia diagnosis.
Method
A systematic approach was undertaken, following the PRISMA guidelines, updating previous reviews. The literature search was conducted on PubMed, PsycINFO, CINAHL Complete and Scopus. In line with mapping review methodology, we report the current state of the literature by describing the number of studies that outline barriers and facilitators to seeking help for a dementia diagnosis, split by social categorisation.
Results
On the 7 June 2024, a total of 45 studies were identified. Our mapping demonstrated the majority of studies were derived from high-income countries and did not specify whether they were exploring barriers and facilitators through a specific social lens. Ethnicity was one of the few social categories where a range of evidence was reported. Other categories, such as socioeconomic status, gender and sexual orientation, received limited research attention.
Conclusions
Our mapping review suggests the large body of work within this field tends to treat people with dementia and their carers as homogenous and androgenous groups. To better inform this key policy directive, studies are needed that explore the influence of social determinants on people’s experiences of seeking a dementia diagnosis. Such work would create a richer, more nuanced evidence base that better elicits ways of addressing inequalities and inequities that arise at this key stage of people’s dementia care journey.
This article aimed to summarize the clinical characteristics and our experience with the diagnosis and management of laryngocele. We offer our perspectives for cases associated with laryngeal cancer.
Methods
A retrospective study of 14 patients with laryngocele was accomplished from June 2014 to June 2024. Clinical data were analyzed through descriptive statistical methods.
Results
A total of 14 laryngocele patients were divided into internal type (n = 11; 78.6 per cent) and combined type (n = 3; 21.4 per cent). Nine laryngocele patients (n = 9; 64.3 per cent) were accompanied by laryngeal cancer. The transoral approach was applied in 11 internal laryngocele patients with no post-operative complications or recurrences.
Conclusion
Laryngoscopy and imaging examination are helpful for diagnosis especially to exclude laryngeal cancer. The transoral approach is effective for the internal type, and the key is to resect the anterior part of the false vocal fold. For patients with concomitant laryngeal cancer, the laryngocele should be promptly managed.
This chapter explores the experience of receiving a diagnosis (or reaching a point of self-diagnosis) and how this diagnosis impacted the participants and their self-identity. It examines the extent to which they have developed (or are developing) a positive autistic identity, and the terminology they use to describe themselves and their diagnosis.
The link between opioids and peripheral edema has been discussed in the literature, though scarcely, especially in case reports involving patients using transdermal fentanyl for pain management.
Methods
We present a case of a 51-year-old man with advanced head and neck cancer who developed severe, asymmetrical left-sided hemifacial edema following the initiation of transdermal fentanyl for pain management, which subsequently subsided after switching to transdermal buprenorphine.
Results
We reduced the fentanyl patch from 75 to 62.5 mcg/h. At a follow-up visit within 48 hours there was some improvement in the swelling of the eyelids and tongue, but no significant change was noted in the lips, chin, and cheek region; and the patient experienced facial pain and discomfort due to swelling. It was then decided to rotate the opioid to buprenorphine transdermal patch 52.5mcg/h every 3 days; and a rapid improvement in the patient’s face, particularly in the eyelids and cheek region was observed. The remaining edema with the buprenorphine patch could be due to cancer progression.
Significance of results
The final diagnosis of edema as a side effect of transdermal fentanyl was reached through careful knowledge of the frequent and non-frequent side effects of opioid drugs, clinical observation and, importantly, by listening to the patient and his wife, whose insights and observations were integrated with the medical team’s knowledge and assessments. Our report enhances the benefit of paying close attention to the input and observations of patients and caregivers, as they are the ones most familiar with the disease’s impact on daily life and the subtle changes and details that may go unnoticed in the clinical setting.‡
The term “acute leukemia” actually covers a large number of different diseases. This is mostly related to the lineage involved, yet, even in a single lineage, differences exist according to the differentiation stage where maturation blockade occurred or to the type of chromosomal/molecular anomalies associated with the disease. This chapter provides a guide of how immunophenotypic anomalies, typically identified very early in the diagnosis process, can orient further cytogenetic or molecular investigations, allowing for a faster integrated diagnosis and better focused patient management.
The post-traumatic stress disorder (PTSD) diagnosis encompasses heterogeneous presentations, many of the diagnostic criteria are not trauma-related and almost all PTSD symptoms are common to several psychiatric diagnoses. Flashbacks are the only symptom unique to PSTD. However, the absence of a consensus definition of flashbacks means that this term means different things to different people, causing misunderstanding and miscommunication, and presumably affecting treatment. This Refreshment discusses how flashbacks are defined in DSM-5-TR and ICD-11 (essentially, as reliving/re-experiencing when awake) and briefly describes the dual representation theory's account of flashbacks. In discussing what flashbacks are and are not, it aims to promote improved understanding, assessment and diagnosis of PTSDs.
In low- and middle-income countries, fewer than 1 in 10 people with mental health conditions are estimated to be accurately diagnosed in primary care. This is despite more than 90 countries providing mental health training for primary healthcare workers in the past two decades. The lack of accurate diagnoses is a major bottleneck to reducing the global mental health treatment gap. In this commentary, we argue that current research practices are insufficient to generate the evidence needed to improve diagnostic accuracy. Research studies commonly determine accurate diagnosis by relying on self-report tools such as the Patient Health Questionnaire-9. This is problematic because self-report tools often overestimate prevalence, primarily due to their high rates of false positives. Moreover, nearly all studies on detection focus solely on depression, not taking into account the spectrum of conditions on which primary healthcare workers are being trained. Single condition self-report tools fail to discriminate among different types of mental health conditions, leading to a heterogeneous group of conditions masked under a single scale. As an alternative path forward, we propose improving research on diagnostic accuracy to better evaluate the reach of mental health service delivery in primary care. We recommend evaluating multiple conditions, statistically adjusting prevalence estimates generated from self-report tools, and consistently using structured clinical interviews as a gold standard. We propose clinically meaningful detection as ‘good-enough’ diagnoses incorporating multiple conditions accounting for context, health system and types of interventions available. Clinically meaningful identification can be operationalized differently across settings based on what level of diagnostic specificity is needed to select from available treatments. Rethinking research strategies to evaluate accuracy of diagnosis is vital to improve training, supervision and delivery of mental health services around the world.
Scabies is a neglected tropical disease caused by the ectoparasitic mite, Sarcoptes scabiei var. hominis (S. scabiei). Common scabies, the most prevalent clinical subtype of scabies, is characterized by pruritus, multiple skin lesions and low mite burden. In contrast, crusted scabies, an extremely contagious variant, is characterized by hyperkeratosis and high mite burden, with or without pruritus. Scabies can be diagnosed based on clinical manifestations, with confirmation obtained through microscopic identification of diagnostic features of S. scabiei. However, owing to the diversity and non-specific nature of its clinical manifestations and insufficient knowledge regarding early-stage clinical manifestations, the diagnosis of crusted scabies continues to be delayed. Herein, we present three cases of scabies with varying degrees of crusting and mite burden. Three patients with physical and microscopic results suggesting scabies were selected for this study. Case 1 had mild crusting and low mite burden, case 2 had severe crusting and high mite burden and case 3 had mild crusting and high mite burden. In this case report, ‘the initial stage of crusted scabies’ refers to the progression from common to crusted scabies. The discussion regarding the diagnostic characteristics of the initial stage of crusted scabies is expected to aid the early diagnosis of crusted scabies.