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This chapter provides a practical guide to cytogenetic analysis of hematologic malignancies in children. It focuses on conventional cytogenetic analysis as well as fluorescent in situ hybridization (FISH), including nomenclature, analytical methodologies, and interpretation of various FISH probes. It also provides information on recurring genetic abnormalities in pediatric hematopoietic neoplasms. The chapter is well illustrated and provides helpful information to pathology trainees and practicing hematopathologists.
Psychiatric inpatient care is a high-resource component of mental health systems. Understanding the diagnoses driving inpatient care is essential for evidence-based service planning. This study describes psychiatric inpatient bed use in Ireland from 2013 to 2023 by diagnosis, sex, and age group.
Methods:
National descriptive analyses using aggregated data from the National Psychiatric Inpatient Reporting System, covering acute inpatient admissions in Ireland. The outcome was total number of inpatient bed days, categorised by ICD-10 diagnostic group. Primary analyses focused on public services, with private services reported separately. We additionally report on child and adolescent mental health services (CAMHS), adult services, and sex-stratified results.
Results:
Between 2013 and 2023, there were k=3,993,628 public and k=1,879,877 private inpatient bed days. In public services, schizophrenia spectrum disorders accounted for 41.9% of bed days (k=1,673,529), more than twice as many as the next most prevalent diagnosis. Men accounted for 51.2% of acute public bed days. In private adult services, depressive disorders accounted for the largest proportion of bed days (28.5%, k=513,166). In public and private CAMHS, eating disorders accounted for the largest proportion of bed days (25.6%, k=46,850 and 24.4%, k=18,775), respectively.
Conclusion:
This national analysis demonstrates that schizophrenia spectrum disorders represent, by far, the largest diagnostic group, accounting for 42% of public acute psychiatric inpatient beds days, highlighting the sustained, intensive service demands associated with these disorders. These data provide a clear empirical basis for future service planning, highlighting where targeted enhancements to community-based care could most effectively reduce the need for hospitalisation.
Hookworm infection, caused by Necator americanus and Ancylostoma duodenale, is prevalent in areas with poor sanitation. Coprology is the gold standard for diagnosis, but it has low sensitivity in low parasite loads. The objective of this study was to evaluate four Polymerase Chain Reaction (PCR) targets for molecular diagnosis. Stool samples were collected from 180 residents of the rural community Tierra Blanca, Bolívar State, Venezuela, in which coproparasitological tests were performed. Four DNA extraction methods were standardized, and four PCR techniques were studied: NaITS1F/NaITS1R (ITS1), Na58/Na158R (ITS2), NA/NC2 (ITS2-28S) and NC1/NC2 (ITS2-28S) for N. americanus. Only two of these techniques could be standardized and evaluated, as amplification was not achieved with the other two. The two standardized techniques were applied to all samples, and diagnostic indices were obtained. The results showed that extraction with the Wizard kit was the most suitable due to the quality of the DNA obtained. Primer analysis revealed high identity, but with sequences mainly from Asia and Africa, since there are very few available from America. PCR-NaITS1F/NaITS1R (ITS1) demonstrated the best diagnostic indices, significantly surpassing coprology. PCR-Na58/Na158R (ITS2) showed lower sensitivity than coprology. Therefore, PCR-NaITS1F/NaITS1R (ITS1) is recommended for molecular diagnosis. The prevalence of N. americanus in the Tierra Blanca community was 20.6 % by coprology, 88.3 % by PCR-NaITS1F/NaITS1R (ITS1) and 94.4% by the combination of these techniques. The high prevalence of infections underscores the need for molecular techniques but these must be previously evaluated with samples from the regions where they will be used.
Human angiostrongyliasis is an emerging foodborne zoonosis caused predominantly by Angiostrongylus cantonensis and Angiostrongylus costaricensis, which produce distinct neurological and abdominal forms of disease, respectively. Human infection occurs primarily through ingestion of raw or undercooked gastropod intermediate hosts, paratenic hosts such as freshwater prawns and crabs, or fresh produce contaminated with infective third-stage larvae (L3). A. cantonensis is the principal cause of neuroangiostrongyliasis and eosinophilic meningitis, whereas A. costaricensis causes abdominal angiostrongyliasis, characterized by eosinophilic inflammation involving the intestinal wall and mesenteric vasculature. Although historically concentrated in tropical and subtropical regions, A. cantonensis has expanded its geographic range, while A. costaricensis remains predominantly distributed in Latin America. This changing epidemiology is influenced by climate and environmental change, host redistribution, globalisation, urbanisation, and dietary practices. Diagnosis remains challenging and requires integration of epidemiological exposure, clinical findings, and laboratory and imaging results. For neuroangiostrongyliasis, cerebrospinal fluid (CSF) eosinophilia, serological testing, and molecular assays, including increasingly sensitive real-time PCR approaches, provide important diagnostic evidence, whereas abdominal angiostrongyliasis frequently requires imaging, histopathology, and, where available, molecular or serological confirmation. Treatment of neuroangiostrongyliasis remains centred on corticosteroids and management of intracranial pressure, while the role of albendazole has historically been controversial but is increasingly supported as adjunctive therapy when administered with corticosteroids. In abdominal angiostrongyliasis, surgical management remains an important component of diagnosis and treatment, particularly in patients with intestinal complications. Emerging molecular diagnostics, host-directed therapies, novel anthelmintic strategies, and improved surveillance approaches offer promising opportunities for future disease control. Continued progress will require an integrated One Health approach combining epidemiological surveillance, improved diagnostic capacity, evidence-based clinical management, food-safety education, and ecological monitoring of transmission.
What if change could be planned, managed, and executed like a well-run project? Chapter 2 dives into the managerial perspective — an approach built on structure, strategy, and expertise. It traces how this view came to dominate the change literature and explores the models that continue to shape organisational practice today. But behind the order lies a tension: can complex human systems ever really be engineered? This chapter not only equips readers with powerful tools but also prompts critical reflection on what such tools leave out.
Cerebral palsy (CP) is a heterogeneous group of motor disorders resulting from nonprogressive brain disturbances. This chapter presents two case studies: One infant born prematurely with left hemiplegia, who actively participates in sports and attends mainstream school, and a second infant, born at full-term diagnosed with CP due to increased lower limb tone and mobility challenges. These cases illustrate the importance of timely diagnosis and early intervention to enhance functional outcomes. The discussion emphasizes the significance of comprehensive assessments, multidisciplinary management strategies, and the evolving understanding of CP definitions, highlighting the potential for improved quality of life through targeted interventions.
Adults with mental disorders more frequently report getting into serious trouble with the police and the law than do adults with no mental health diagnosis. The mechanisms underlying this statistical association remain unclear.
Methods
The study used data from a US population survey to examine whether the previously recognized association between psychiatric diagnosis and getting into serious police or legal trouble is mediated by impaired psychosocial function or psychiatric symptoms. The predictor variable was psychiatric diagnosis. The mediator variables were two forms of psychosocial function, social and role-emotional, and the presence of recent symptoms. The outcome variable was police or legal trouble.
Results
When known risk factors are included as covariates, the association between mental disorder and serious police or legal trouble over the past year is maintained and is significantly mediated (p < 0.05) both by social and role-emotional function (social, excess relative risk [ERR] 1.42 [95% CI: 0.96, 1.88]; role-emotional, ERR 1.45 [95% CI: 0.98, 1.91]) and by recent symptoms(ERR 1.63 [95% CI: 1.13, 2.13]). The contribution of mediation varies by diagnosis.
Conclusions
Previous research suggested that it is unusual for psychiatric symptoms to lead directly to violence. These results suggest that symptoms and signs of mental disorder nevertheless contribute indirectly to violence and other adverse outcomes. The identification of these mediators may, in turn, suggest new approaches to reducing the risk of those outcomes. Future research should further examine and describe the mechanisms that underlie these and other forms of mediation.
There has been growing interest in developing a clinical staging model for eating disorders (EDs). The aim of this scoping review is to investigate the extent, range, and nature of research that can inform clinical staging approaches for EDs.
Methods
This review was conducted following the Joanna Briggs Institute methodology for scoping reviews and the PRISMA extension for Scoping Reviews. A search of PubMed, PsycINFO, MEDLINE and Web of Science databases was conducted. Sixty studies were included for review, and data were extracted according to revised pre-published criteria. Studies were summarized using narrative synthesis.
Results
Thirty-six of the included manuscripts were quantitative, 18 were qualitative, and six were conceptual/review papers. The included studies primarily focused on anorexia nervosa in white, female samples and compared only two stages of illness, equating to “early” and “longstanding” or “severe and enduring” EDs. “Middle” stages or transitions between stages were not well-defined. Stages have mostly been conceptualized using duration of illness or other behavioral or clinical parameters, with few (neuro) biological studies identified. Factors that may modify illness stage have not yet been integrated into ED staging literature.
Conclusions
There is growing consensus that early- and later-stage EDs have distinct characteristics and treatment requirements; however, these distinctions require clearer definition. Recommendations for future research are outlined, emphasizing integration of psychosocial and biological research, focused investigation of illness phases outside of early and longstanding phases, and evaluation of personalized, stage-based treatments. A tentative staging model for EDs is proposed.
Hypopharyngeal cancer is characterised by low survival rates because of the prevalence of the advanced stage. This study aims to analyse the pathways to the diagnosis of hypopharyngeal cancer.
Method
A retrospective observational cohort study of 434 patients diagnosed with hypopharyngeal cancer extracted from the Head and Neck cancer multidisciplinary team database in the West of Scotland over 14 years.
Results
There were 434 patients with a mean age 67.3 years. The Urgent Suspicion of Cancer referral pathway had 237 patients (54.6 per cent), while 87 patients (20 per cent) had urgent or routine general practitioner referral, 101 (23.3 per cent) were referred by secondary care specialities and 55 (12.7 per cent) presented as emergencies. The majority of patients, 288 (66.3 per cent), experienced symptoms for 3 months before referral and 180 of patients (41.5 per cent) had an ENT clinic appointment within 2 weeks after referral.
Conclusion
Diagnostic pathways to hypopharyngeal cancer are efficient despite a variety of clinical presentations. However, most patients present with short symptom duration and advanced disease, highlighting its aggressive nature.
Despite being common and linked to significant morbidity and mortality, personality disorders (PD) are underdiagnosed. Stigma, professionals’ therapeutic nihilism and lack of effective treatments are contributing factors. This survey aimed to explore the experiences of a service user group of being assessed for and receiving a diagnosis of personality disorder and to examine the impact of the diagnosis and the disorder on their life.
Methods:
Patients under the care of two consultant-led teams who had received a diagnosis of personality disorder using Structured Clinical Interview for DSM-5 PD (SCID-5-PD) in 2019 and 2020 were invited by email to complete a qualitative survey. Responses were analysed using thematic analysis.
Results:
Participants were predominantly aged 41–50 years, with most discharged over three years previously. Borderline personality disorder was most commonly reported. Thematic analysis identified three themes: Understanding and Being Understood – highlighting variable levels of comprehension and agreement with the diagnosis; A turning point – describing both abandonment and access to targeted treatment; and Restriction – capturing stigma, secrecy, and perceived negative impacts on care, relationships, and functioning.
Discussion:
Findings highlight the complexity of delivering diagnoses in a meaningful and therapeutic way. Participants reported limited understanding, underscoring the need for clear, repeated psychoeducation and collaborative formulation while others described positive experiences leading to self understanding and recovery. Many were relieved to get the diagnosis after significant delays and lack of appropriate treatment. Revisiting formulation over time and linking diagnosis to treatment pathways appear crucial for acceptance, empowerment, and positive outcomes.
The study of hyperinfection in animal models is important to control strongyloidiasis as a public health concern. While human strongyloidiasis is often chronic, experimental models allow the assessment of the acute phase of hyperinfection. This study evaluated excretory/secretory (E/S) antigens of Strongyloides venezuelensis L3 larvae to detect IgG antibodies in serum samples from rats immunosuppressed or not and experimentally infected or not with S. venezuelensis. Infection parameters and IgG detection by the antigenic extracts – total saline extract (TS), E/S in RPMI 1640 (RPMI E/S), and E/S in phosphate buffered saline (PBS E/S) – were evaluated. RPMI E/S achieved the best diagnostic parameters, showing no reactivity with non-infected controls. These data demonstrate that E/S antigens are effective for detecting strongyloidiasis during the acute hyperinfection window, offering a reliable tool for experimental research and potential translational applications for screening high-risk patients.
Depressive disorder (DD) is a widespread mental illness that lacks objective diagnostic biomarkers, complicating early detection and personalised treatment. This study investigated the diagnostic value of serum interferon-gamma (IFN-γ), nerve growth factor (NGF), and their ratio, alongside thyroid peroxidase antibody (TPOAb) and glial fibrillary acidic protein (GFAP), in patients with DD compared to healthy controls.
Methods:
A total of 238 participants (118 with DD and 120 controls) were enrolled. Depression severity was assessed using DSM-5 and HAM-D criteria. Serum biomarkers were measured using enzyme-linked immunosorbent assays (ELISA), and receiver operating characteristic (ROC) analysis was performed to assess diagnostic performance.
Results:
DD patients exhibited significantly lower IFN-γ and higher NGF levels than controls (both p < 0.001), resulting in a markedly reduced IFN-γ/NGF ratio. The IFN-γ/NGF ratio achieved the highest diagnostic accuracy (AUC = 0.858, sensitivity = 82.20%, specificity = 77.50%), outperforming IFN-γ (AUC = 0.766) and NGF (AUC = 0.848) alone. TPOAb and GFAP levels did not differ significantly between groups.
Conclusion:
The IFN-γ/NGF ratio is a promising biomarker for depressive disorder, offering superior diagnostic accuracy over individual immune or neurotrophic markers. This composite index may support more objective and biologically informed diagnosis in clinical psychiatry.
Linguistic abnormalities in schizophrenia (SCZ) span morphological, syntactic, semantic, and discourse levels. Converging cross-linguistic evidence suggests that SCZ may involve semantic narrowing alongside reduced syntactic differentiation, yet how these changes co-occur across linguistic domains and whether they represent core, task-general disturbances remains unclear. We applied a multilevel NLP framework to a large Japanese dataset to identify structurally related linguistic markers of SCZ across elicitation contexts.
Methods
Speech from 104 patients with SCZ and 101 healthy controls was collected through semi-structured interviews. Transcripts from free conversation, storytelling, and picture description were analyzed using GiNZA, Word2Vec, TF-IDF, and SentenceBERT to extract 76 morphosyntactic, semantic, and discourse features. Factor analysis identified representative features independent of diagnosis, which were tested using generalized estimating equations and validated with bootstrap and permutation procedures. Cross-task stability was examined to determine core linguistic markers.
Results
In free conversation, reduced Case-particle (Kakujoshi) and Adverb use and increased Mean Pairwise Word Similarity were strongly associated with SCZ (AUC = 0.87, 95% CI: 0.74–0.97). Adverbial, case-particle, and semantic-network measures functioned as cross-task markers.
Conclusions
SCZ involves multidimensional language disturbances characterized by a tripartite linguistic phenotype of diminished morphosyntactic explicitness, semantic narrowing, and reduced modification-based contextual modulation in spontaneous discourse. Extending cross-linguistic evidence, our results indicate that lexical-semantic contraction co-occurs with reduced overt marking of argument relations in Japanese, alongside weakened adverbial elaboration and framing – suggesting convergent, largely task-general dimensions of SCZ language pathology, most evident in free conversation.
To evaluate the validity and correlates of inaccurate clinically diagnosed moderate/severe ICD-10 major depressive disorder (MDD) and psychiatric comorbidities in adult inpatients.
Methods
The multicenter Patient Characteristics, Validity of Clinical Diagnoses and Outcomes Associated with Suicidality in Inpatients with Symptoms of Depression (OASIS-D) study enrolled 18- to 75-year-old inpatients with MDD who underwent assessments for clinical, illness, and treatment characteristics, including the Mini-International-Neuropsychiatric-Interview (MINI). False-positive clinically MDD diagnoses were characterized via MINI. Diagnostic agreement between clinical and MINI-based psychiatric comorbidities was assessed with kappa-statistic.
Results
Among 401 patients (median age = 33.0 years; female = 57.1%), 42 (10.5%) were false positive for MDD (i.e., different primary diagnosis). Reasons for misdiagnosing MDD exclusive to false-positive cases included bipolar disorder (45.2%), subsyndromal depression (16.7%), and physical illness-related/substance use disorder (SUD)-related depression (4.8%), whereas missed diagnoses that could also occur in true-positive, MINI-based MDD patients included primary SUDs (23.8%) and primary anxiety disorders (9.5%). Among comorbidities, greatest disagreement between clinical and MINI-based research diagnoses existed for antisocial personality disorder (0% vs. 5.2%, κ =0), followed by anxiety disorders (7.5% vs. 45.1%, κ =0.17), obsessive-compulsive disorder (3.0% vs. 8.7%, κ =0.27), SUDs (11.0% vs. 28.4%, κ =0.29), eating disorders (3.5% vs. 7.2%, κ =0.39), and posttraumatic stress disorder (10.7% vs. 23.7%, κ =0.40).
Conclusions
Bipolar depression and SUDs contributed to two thirds of misdiagnosed MDD. Missed comorbidities included mostly anxiety disorders, SUDs, and PTSD. Accurate diagnostic assessment, including longitudinal history, is essential to reduce misdiagnosis and ensure guideline-based treatment for psychiatric disorders in MDD inpatients.
Clinical prediction models play a crucial role in advancing personalized care for mental health disorders, providing essential insights for diagnosis, prognosis and intervention planning. This work examines the current methodological approaches used to develop such models, emphasizing their application to mental health problems, including depression. To illustrate these concepts, we used data on prenatal depression from a multinational observational study of 5,372 pregnant women. The goal is to develop an individual prognostic model for depressive symptoms that can be used already at the beginning of pregnancy. Our analysis explores variable selection strategies, validation methodologies and the integration of clinical expertise with data-driven approaches. Particular attention is given to addressing challenges such as population heterogeneity, overfitting and the importance of external validation for generalizability across diverse settings. We distinguish between statistical regression models and machine learning techniques, discussing their respective strengths and limitations in terms of interpretability, predictive accuracy and clinical usability. This work offers practical guidance for researchers and clinicians, focusing on the critical steps for model development and implementation. We highlight best practices to avoid common pitfalls, advocate for interdisciplinary collaboration and address challenges of integrating advanced statistical and machine learning tools into clinical practice. By providing practical guidance and addressing these issues, our aim is to support the development of robust and clinically relevant prediction models.
Hepatosplenic T-cell lymphoma (HSTCL) is an aggressive T-cell lymphoma with characteristic clinicopathologic features. This chapter highlights the key immunophenotype of HSTCL and underscores the distinct differences between HSTCL and its mimickers, such as γδ T-LGLL and aggressive NK-cell neoplasm.
This chapter provides the key immunophenotypic features of various subtypes of T-large granular lymphocytic leukemia (T-LGLL). The differential diagnosis of T-LGLL, including reactive T-LGL proliferation, T-cell clone of uncertain significance, and other T-cell leukemias/lymphomas, especially hepatosplenic T-cell lymphoma, is also discussed. Diagnostic pitfalls associated with T-LGLL are highlighted.
This chapter introduces the classification of acute myeloid leukemia (AML) and highlights the importance of integrating both genetic and immunophenotypic findings in the diagnostic process. AML blasts exhibit a diverse range of immunophenotypic profiles, and key markers associated with each immunophenotypic subtype are discussed. The assessment of minimal residual disease (MRD) is crucial in AML, as it provides important information regarding treatment response and prognosis. Both flow cytometry and molecular testing are used in MRD evaluation.
Pediatric postural orthostatic tachycardia syndrome is one of the main haemodynamic types of neurally mediated syncope and is commonly seen in school-aged children. Heart rate and blood pressure are important physiological indicators in the human cardiovascular system. They are easily accessible in clinical practice and have the advantages of being non-invasive, simple and safe. This article will review the predictive value of heart rate and blood pressure in the diagnosis and prognosis of pediatric postural orthostatic tachycardia syndrome.
Recent proposals for revising the Diagnostic and Statistical Manual of Mental Disorders (DSM) aim to improve psychiatric diagnosis. While these efforts reflect substantial ambition, they continue to operate within assumptions embedded in the DSM’s underlying classificatory logic. This editorial examines whether such incremental revision is sufficient.
Methods
We provide a critical analysis of the recently published DSM roadmap and accompanying subcommittee commentaries. Drawing on contemporary literature, we identify five structural blind spots in the current reform agenda: public mental health, scientific inference, lived experience, epistemic governance, and the function of diagnosis. Based on this analysis, we propose an alternative dialogical redesign for the DSM.
Results
We argue that current revision considerations risk increasing complexity without resolving fundamental limitations in psychiatric classification. Specifically, our analysis highlights several areas that warrant further consideration, including the relationship between diagnostic expansion and societal conditions, the applicability of group-level scientific findings to individual care, the incorporation of experiential knowledge, participatory governance in revision processes, and the identity-related implications of diagnosis. In response, we propose redesigning the DSM as a hybrid dialogical system that retains coarse-grained classificatory categories for pragmatic purposes while shifting diagnostic practice toward contextual interpretation, collaborative meaning-making, relational understanding, and individualized care formulation.
Conclusions
The challenges facing psychiatric diagnosis require more than incremental refinement. We therefore argue for a dialogical redesign of the DSM that better reflects the context-dependent, experiential, and relational nature of mental health conditions, positioning diagnosis as a starting point for collaborative inquiry.