Diagnostic Terms Research Articles

Sialadenopapillary Ductal Tumors: Unifying the Spectrum of Sialadenoma Papilliferum-like Tumors With Low Malignant Potential.

Sialadenoma papilliferum is a tumor characterized by surface papillary projections and glandular/microcystic proliferation at the lesion base. Cases in which surface involvement is absent have been termed "sialadenoma papilliferum-like intraductal papillary tumor." Similar tumors that are present in the mandible have been termed "tubulopapillary hidradenoma-like tumor of the mandible." While previously considered benign, these tumors demonstrate variable clinical behavior and likely exist on a spectrum, rather than as discrete entities. In this study, we present a detailed clinicopathologic and molecular analysis of these lesions and propose a unifying diagnostic term: sialadenopapillary ductal tumor (SDT). Twenty-two cases with similar histologic features were reviewed, with special attention being paid to the clinicopathologic features. Immunohistochemistry for BRAF V600E and molecular testing were performed where material was available. The cases had varying diagnoses, ranging from benign to malignant. Six cases involved bone, 1 of which metastasized to a local lymph node. Of the 20 cases tested for BRAF V600E by immunohistochemistry, 18 were positive. Molecular testing was performed in 5 cases, where BRAF, PTPN11, and PIK3CA mutations were identified, predominantly members of the RAS-RAF-MEK-ERK pathway. In addition, 1 case was reclassified as an intraductal carcinoma after the identification of an NCOA4::RET gene fusion. Tumors on the SDT spectrum all share morphologic and molecular commonalities with unreliable distinguishing features. These tumors demonstrate the potential for aggressive local growth and regional metastasis. We propose a unifying diagnostic term for these lesions to reflect their common morphologic and molecular features and, most importantly, low malignant potential.

Epithelioid Fibrous Histiocytoma Is on a Continuum With Superficial ALK-rearranged Myxoid Spindle Cell Neoplasm: A Clinicopathologic Series of 35 Cases Including Alternate RET and NTRK3 Fusions.

Anaplastic lymphoma kinase (ALK) rearrangements drive most examples of epithelioid fibrous histiocytoma (EFH) and have been reported in an emerging family of receptor tyrosine kinase (RTK) fusion-positive mesenchymal neoplasms, including superficial ones described under the rubric of "superficial ALK-rearranged myxoid spindle cell neoplasm" (SAMS). Here, we describe 35 superficial tumors with SAMS morphology, which occurred in 18 females (51%) and 17 males at a median age at presentation of 39 years (range: 6 to 82y). Most tumors occurred on the lower extremity (25 tumors; 71%), followed by upper extremity (5; 14%), trunk (3; 9%), and face (2; 6%). Nine tumors were reported to have grown slowly before presentation, including >10 years in 2 cases. Tumors occurred primarily in the dermis (32 tumors; 91%) or subcutis (3; 9%); 8 dermal tumors extended into the subcutis. Median tumor size was 1.3cm (range: 0.5 to 8.0cm). Clinical follow-up was available for 12 patients (34%; range: 2mo to 21y; median: 2.7y), none of whom experienced metastasis. One incompletely resected tumor recurred locally at 19 months, and no other patients experienced recurrence. Histologically, tumors were characterized by bland spindle-to-ovoid cells showing whorled growth and myxoid-to-collagenous stroma. Recurrent features included an epidermal collarette (19/30; 63%), perivascular hyalinization (20/35; 57%), amianthoid collagen (14/35; 40%), and metaplastic ossification (2/35; 6%). Immunohistochemistry (IHC) demonstrated expression of ALK (24/31; 77%), CD34 (15/21; 71%), EMA (17/28; 61%), and S-100 (9/32; 28%). Eleven tumors showed hybrid morphologic features between EFH and SAMS; 9 of them (82%) showed cytomorphology typical of EFH but with whorled growth, myxoid stroma, and/or regions of spindle cell morphology. Two hybrid tumors showed sharp transitions between a region characteristic of EFH and a region characteristic of SAMS, with a concomitant sharp transition in EMA, CD34, and S-100 expression by IHC. Sequencing revealed ALK fusions in 15 of 19 tumors: 2 each with fusion partners FLNA, SQSTM1, and VCL, and 1 each with COL1A2, DCTN1, EML4, FXR1, MPRIP, PLEKHH2, PRKAR1A, SPECC1L, and TLN2. Thirteen of 14 ALK-rearranged tumors expressed ALK by IHC. Three tumors negative for ALK fusions instead harbored alternate RTK fusions (NCOA4::RET, TRIM27::RET, and VIM::NTRK3), and 1 tumor was negative for RTK alterations. CDKN2A/B deletions were found in 2 tumors with ALK fusions and both tumors with RET fusions. SAMS is on a morphologic and molecular genetic spectrum with EFH, with a similar body site distribution, frequent clinical presentation as an exophytic skin tumor, and invariably benign outcomes; we conclude that SAMS should be considered a histologic variant of EFH. Some morphologically typical examples harbor alternate RET and NTRK3 fusions, such that SAMS is not an appropriate designation for this morphologic class; instead, to highlight the clinicopathologic similarities to EFH, we propose the diagnostic term "myxoid spindle cell variant of epithelioid fibrous histiocytoma."

Service users perspectives on psychosis-risk terminology: An Italian study on labeling terms preferences and stigma

AimsThe current range of labeling terms—at-risk mental state (ARMS), ultra-high risk for psychosis (UHR), and attenuated psychotic syndrome (APS)—used to refer to the psychosis-risk concept is varied, and their acceptability and potential stigma are not well understood. By involving Italian youth with lived experience of mental ill-health, we aimed to generate new labeling terms for psychosis-risk, and to evaluate literacy, attitudes, and preferences regarding these and the existing terms. Additionally, we investigated opinions of disclosure of the at-risk concept in clinical practice. MethodsThrough a dual-moderator focus group, novel diagnostic terms were coined for the at-risk concept: psychosis proneness (PP), change of personal reality (CPR), and hints of subjectivity dysregulation (HSD). A specifically designed questionnaire was then completed by 47 help-seeking youths, 60 relatives, and 61 clinicians to test newly generated and already established at-risk terms. ResultsLiteracy on already established terms was significantly lower among youth (mean= 42 %) and relatives (mean= 38 %). ARMS was the preferred and least stigmatizing term among young people and clinicians. UHR was considered the most stigmatizing label. Among newly generated terms, CPR was the least stigmatizing and most informative. Disclosure of at-risk terminology was generally preferred after establishing a trusting clinician-patient relationship. ConclusionsFindings support ARMS as a useful and acceptable term in clinical practice with young people, while UHR is associated with the highest stigma. CPR is promising and should be tested in cross-cultural studies. In Italy, there is an urgent need for improving literacy on prevention in mental health.

Pangoniometry is a modern method of physiological and hygienic assessment of the severity of work according to the indicator "Working posture"

Introduction. The development of occupational health is largely ensured by its comprehensive approach to the study of the "Man–machine–production environment" system, which includes an assessment of many factors characterizing the production system in the action shaping working conditions. However, in the concept of "Working conditions" they are "a set of factors in the working environment and the labor process that influence the performance and health of the employee", that is, they are interpreted statically (as a set...) and passively — without the participation of the employee in shaping the conditions of his work. This is probably why the working conditions are being investigated dose exposures of material factors that do not contribute to the identification of their primary connection with a working person — a connection that forms the result of the actual interaction of material factors with the animate at a certain time in a given workplace, the identification of which is available only to effective exposures of material factors — expositions of a higher level of quality, claiming to have the appropriate quality of rationing – comprehensive, universal, with an expanded scale of assessment of working conditions, and for the first time opens up the possibility of their identification, depending on the state and dynamics of the employee's health. In this study, scientists measured and evaluated the effective exposure of one of the most difficult to determine and evaluate the characteristics of the labor severity factor — the "Working posture". The experts gave an assessment in comparison with the traditionally defined basic exposures of the working position in the studied labor processes. The study aims to increase the accuracy of the hygienic assessment of the severity of work according to the indicator "Working posture" using a modern technique — pangoniometry. Materials and methods. In three groups of workers (2 car drivers, 10 doctors of clinical laboratory diagnostics and 30 electricians on duty), specialists applied three different methods of studying the working posture, two of which are widely represented in the normative and methodological and scientific literature, and the third was developed by the authors and was called pangoniometric. This technique consisted in drawing up diagrams of working poses, which are the material for measuring with the help of a protractor the limits of fluctuations in the degrees of motion of various parts of the locomotor system in joints. The researchers also measured the actual limits of fluctuations in angular degrees, determined that they exceeded the known optimal limits in areas of increased stress on the joint and the time of its operation in these areas. The authors have carried out statistical processing of the obtained material using the Student's t-test and the Pearson correlation coefficient. Results. It was found that the indicator of the effective effect of the forms of working poses obtained by the method of pangoniometry significantly, by 1–2 classes and degrees of harmfulness, clarifies the assessment of the severity of labor in comparison with the indicator of the dose exposure of working poses. Limitation. There were a small number of car drivers studied — two people. Conclusion. Pangoniometry is a method of physiological-hygienic and physiological-clinical comprehensive research and assessment of the impact of forms of working postures on health in the labor process. The method clarifies the hygienic assessment of the severity of work according to the indicator "Working posture" by identifying the primary relationship between the load on the joints and their working tension, materializing this important relationship in diagnostic and preventive terms in the indicator of the effective effect of the goniometric index of the working posture. In an indicator that has the property of being a guide to managing working conditions in the workplace by openly modeling elements of not only the material factor, but also the animate interacting with it, represented by the properties of the employee's body. Ethics. In preparing the article, the authors were guided by the Ethical principles of medical research set out in the Helsinki Declaration of the World Medical Association in the latest edition.

Stigma in steatotic liver disease: A survey of patients from Saudi Arabia.

A recent name change of nonalcoholic fatty liver disease (NAFLD) or metabolic dysfunction-associated fatty liver disease (MAFLD) to metabolic dysfunction-associated steatotic liver disease was primarily driven by potential stigma associated with the terminology. This stigma can be different between patients and healthcare providers and differ according to geographic regions of the world. Our aim was to better understand stigma and disease burden among patients with NAFLD enrolled in the global survey from Saudi Arabia (SA). Members of the Global NASH Council created a 68-item survey about patients' experience with NAFLD, covering history of stigmatization and discrimination due to the disease, various aspects of the disease burden [(Liver Disease Burden (LDB), 35 items, 7 domains], and perception of various diagnostic terms for NAFLD. Patients whose country of residence was SA were asked to complete the survey. The survey was completed by 804 patients with NAFLD from SA. Of all enrolled patients, 17% ever disclosed having NAFLD/nonalcoholic steatohepatitis (NASH) to family/friends. The most commonly used term for the disease was "fatty liver" (96% used it at least sometimes, 79% frequently or always). There were 3.7% who reported experiencing stigma or discrimination (at least sometimes) due to obesity/overweight versus only 2.7% due to NAFLD. Female patients reported a history of stigmatization or discrimination more frequently than males: 5.9% versus 3.0% due to obesity ( P = 0.06) and 5.4% versus 1.8% due to NAFLD ( P = 0.01). There were 43% of patients who reported ever missing or avoiding a visit to a primary care provider due to NAFLD (48% male vs 28% female, P < 0.0001). The greatest social-emotional burden among patients with NAFLD (by LDB) was being or being identified as a person with liver disease (10% agree, 4% male vs 26% female) and feeling like they could not do anything about their liver disease (6.4% agree, 3% male vs 16% female). Regarding how patients perceived diagnostic terms, there were no substantial differences between "fatty liver disease", "NAFLD", "NASH", and "MAFLD". Stigmatization in terms of disease burden, disease-related stigma, and perception of various diagnostic terms are rarely observed in patients with NAFLD in SA. In comparison to male patients, female patients with NAFLD reported more commonly a history of stigmatization and discrimination and a significantly greater disease burden. The findings will help inform policymakers to develop programs to increase awareness and provide education about stigma related to NAFLD.

Idiopathic hyalinizing fibrosclerosis: A systemic steroid-resistant condition distinct from IgG4-related disease

Since the concept of IgG4-related disease (IgG4-RD) was proposed, that diagnosis has been considered in idiopathic fibroinflammatory diseases in various organs, particularly in cases with multi-organ involvement. We have recently encountered three cases of fibrosing disease of uncertain etiology with shared microscopic appearances. Case 1 (56-year-old man) had an irregular mass at the base of mesentery. Case 2 (29-year-old woman) presented with obstructive jaundice due to an ill-defined mass at the hepatic hilum and two lung nodules. Case 3 (53-year-old man) had multiple solid nodules in the mediastinum, peritoneum, retroperitoneum, and mesentery; he also had diffuse irregular narrowing of the intra- and extra-hepatic bile ducts in keeping with sclerosing cholangitis. Serum IgG4 concentrations were not elevated. Biopsies from the nodular lesions showed extensive hyalinizing fibrosis with an only focal lymphoplasmacytic infiltrate. Thick collagenous bundles are arranged in an irregular or partly whorl pattern. Typical storiform fibrosis or obliterative phlebitis was not observed. The number of IgG4-positive plasma cells was <10 cells/high-power field; the ratio of IgG4/IgG-positive plasma cells was <30%. After the histological diagnosis of sclerosing mesenteritis, pulmonary hyalinizing granuloma, and mediastinal fibrosis was made, they were treated with a trial of steroids, but none showed a significant response. In conclusion, a hyalinizing fibrotic condition can occur at various anatomical sites. They have shared microscopic findings, and are steroid-resistant. Although the clinical presentation may mimic IgG4-RD, the two conditions are likely distinct. We would propose a diagnostic term of ‘idiopathic hyalinizing fibrosclerosis’ for this under-recognized, rare, systemic condition.

Defining Retinal Vasculitis

PurposeTo assess the validity of retinal vasculitis as the preferred diagnostic term for multiple conditions. DesignPerspective MethodsExpert opinion and review of literature focused on the current nosology and pathology of retinal vasculitis. Interpretation of the subset of intraocular inflammation named retinal vasculitis based on fundamental knowledge of the blood-retinal barrier, the neurovascular unit and pathological and functional responses to a variety of stimuli. Correlation with multimodal imaging and known mechanisms of immunologically mediated disease. ResultsA search of Medline in early 2024 for the phrase “retinal vasculitis” resulted in 2041 citations encompassing immunologic, genetic, neoplastic, infectious, drug- and ischemia-related disorders. Classification schemes and angiographic grading systems are descriptive and do not address pathologic mechanisms adequately, in part due to lack of histologic confirmation. Although OCT angiography holds promise for better imaging of retinal vascular changes, it does not reveal the key feature of leakage and only partially improves understanding of pathophysiology. Diagnosing catastrophic retinal vascular occlusion after intravitreal injections as a retinal vasculitis is the most recent example of speculative application of the term to complex and rare disorders. ConclusionsRetinal vasculitis is a diagnostic term that is over-used and imprecise. Revised nosology should limit the term to primary inflammation of the retinal vasculature itself that results in opening of the blood-retinal barrier with or without retinal vascular occlusions. Pending new histologic or mechanistic evidence, the provisional term of retinal vascular inflammation or retinal vasculopathy should be used for leakage or occlusion occurring in the context of intraocular inflammation.

English Translation Strategies for Pulse Diagnostic Terms in Tibetan Medicine: A Study from the Perspective of Transknowletology

Tibetan medicine plays a key role in China s traditional medicine system and has made vital contributions to safeguarding the lives and health of Tibetans. But, the translation of TM has lagged behind to some extent. With the help of Transknowletology, this article finds a new way to facilitate the international dissemination of Tibetan medical culture.

What kind of «thing» is mental illness? Listening to Kraepelin, Jaspers and Kronfeld

Since its beginnings psychiatry controversely debated about the appropriate concept of illness, about nosology and the diagnostic terms and procedures based upon it. This paper discusses the approaches introduced by Emil Kraepelin (1856–1926), Karl Jaspers (1883–1969) and Arthur Kronfeld (1886–1941). Whereas Kraepelin postulated the existence of «natural entities» with regard to mental illness, Jaspers acknowledged the heuristic value of the term «disease entity», but declared it a «regulative idea» in a Kantian sense, i.e. an appropriate and useful, albeit never fully achievable aim. Kronfeld, in a way situated «between» Kraepelin and Jaspers, defended the notion of disease entities. However, he spoke clearly against primarily anchoring these entities in neighbouring scientific fields like neurobiology or social sciences. Psychiatry should stay (or become) «autological», in the first place using the psychological perspective. In full respect for neighbouring approaches as scientific fields in their own right, he rejected their premature transfer to mental phenomena as «heterological», i.e. as unduly narrowing down the scope of psychiatry. These issues, up to debate 100 years ago, still are of utmost relevance for psychiatry in the 21st century, a field struggling with its rather fragile scientific identity.

International Skin Imaging Collaboration-Designated Diagnoses (ISIC-DX): Consensus terminology for lesion diagnostic labeling.

A common terminology for diagnosis is critically important for clinical communication, education, research and artificial intelligence. Prevailing lexicons are limited in fully representing skin neoplasms. To achieve expert consensus on diagnostic terms for skin neoplasms and their hierarchical mapping. Diagnostic terms were extracted from textbooks, publications and extant diagnostic codes. Terms were hierarchically mapped to super-categories (e.g. 'benign') and cellular/tissue-differentiation categories (e.g. 'melanocytic'), and appended with pertinent-modifiers and synonyms. These terms were evaluated using a modified-Delphi consensus approach. Experts from the International-Skin-Imaging-Collaboration (ISIC) were surveyed on agreement with terms and their hierarchical mapping; they could suggest modifying, deleting or adding terms. Consensus threshold was >75% for the initial rounds and >50% for the final round. Eighteen experts completed all Delphi rounds. Of 379 terms, 356 (94%) reached consensus in round one. Eleven of 226 (5%) benign-category terms, 6/140 (4%) malignant-category terms and 6/13 (46%) indeterminate-category terms did not reach initial agreement. Following three rounds, final consensus consisted of 362 terms mapped to 3 super-categories and 41 cellular/tissue-differentiation categories. We have created, agreed upon, and made public a taxonomy for skin neoplasms and their hierarchical mapping. Further study will be needed to evaluate the utility and completeness of the lexicon.

P105 Healthcare use by women with Joint hypermobility and Ehlers-Danlos syndromes in Northumberland

Abstract Background/Aims In 2017, the diagnosis of Joint Hypermobility Syndrome was withdrawn and combined with hypermobile form of Ehlers-Danlos syndrome (hEDS). International Consortium on Ehlers-Danlos syndromes proposed new clinical criteria for hEDS and it recommended the concept of Hypermobility Spectrum Disorders (HSDs) when these criteria are not met. None of these three diagnostic terms JHS, HSD and hEDS fully explain the complexity of this heterogenous condition as the criteria do not take into account many co-morbidities such as anxiety, autism, ADHD, bowel and bladder issues, pregnancy complications, dysautonomia, allergies, and more. Health services are organised on the assumption that it is a benign musculoskeletal condition. Health burden from both joint hypermobility and the associated co-morbidities is not known as these patients are usually discharged after episodic care by most services that work in silos. Hence we sought to measure the pattern and costs of secondary NHS healthcare use in this patient group. Methods Using primary care clinical systems from 30 of 36 GP surgeries in Northumberland (approximately 300,000 total population), we determined the number of people with SNOMED codes synonymous to hypermobility; ‘Benign joint hypermobility’ or ‘Hypermobility syndrome’ was the code recorded in 90% of patients, with less than 10% coded as EDS or subtypes. For the purpose of statistical analysis, we grouped all under the newer diagnostic terms hEDS/HSD. RAIDR, the UK’s leading health intelligence tool, was used to compare secondary healthcare activity and costs between patients with and without hEDS/HSD in Northumberland. Results Prevalence of hEDS/HSD in GP records was 4.4 per 1000. Women of childbearing age are affected more than men (Male : Female ratio 3:1). Hospital admissions to General Medicine, Obstetrics &amp; Gynaecology, Surgery, and Orthopaedics were significantly higher in women with hEDS/HSD. Outpatient attendances to Rheumatology, Physiotherapy, Orthopaedics, and Obstetrics &amp; Gynaecology were also higher in women. Male patients with hEDS/HSD where younger than female patients; they presented more often to mental health, physiotherapy and paediatric outpatients compared to those without hEDS/HSD. The cost of secondary care treatment per patient with hEDS/HSD during 2022 was £932.37 compared to £731.88 in those without. For 1,302 patients with diagnoses synonymous with hEDS/HSD, the total additional cost for A&amp;E, Acute Inpatient and Outpatients in 2022 was £261,037. This excludes mental healthcare costs, although there were around twice the number of appointments. Conclusion We found a diagnosed prevalence of hEDS/HSD of one in 227 people in Northumberland. These patients have a significantly higher usage of secondary care, and thereby a higher average healthcare utilisation cost. The next steps would be expansion of this study, along with more in-depth analysis of reasons for secondary healthcare usage. This should inform commissioning of appropriate integrated health services for people with these complex conditions. Disclosure V. Saravanan: None. E. Reinhold: None. J. Demmler: None. I. Loughran: None. B. Frankel: None.

Prevalence of comorbidities with the potential to increase the risk of nonadherence to topical ocular hypotensive medication in patients with open-angle glaucoma

Objective To evaluate the prevalence of comorbidities that may limit or prevent adherence to topical ocular hypotensive therapy in patients with open-angle glaucoma (OAG). Methods The UK Clinical Practice Research Datalink (CPRD) database of primary and secondary care and prescription records was analyzed to identify patients with a first (index) diagnosis of OAG during 2016–2020. The primary care records of these patients were screened for diagnostic terms linked to prespecified (qualifying) comorbidities considered to have the potential to impact patients’ ability to instill eye drops. The prevalence of each of 10 categories of qualifying comorbidity recorded within the period from 5 years before to 2 years after the index OAG diagnosis was analyzed. Results A total of 100,968 patients with OAG were included in the analysis. Among the patients in the OAG cohort, 13,962 (13.8%) were aged 40–54 years, 32,145 (31.8%) were aged 55–69 years, 42,042 (41.6%) were aged 70–84 years, and 12,819 (12.7%) were aged 85+ years. Within the OAG population, 82.7%, 14.6%, and 2.7% of patients had no category, one category, and two or more categories of qualifying comorbidity, respectively. Qualifying comorbidities were most common in older patients. The most prevalent qualifying comorbidities were categorized as degenerative, traumatic, or pathological central nervous system disorder disrupting cognitive function (5.2%), movement disorder (4.4%), and low vision (4.1%). The prevalence of arthropathies and injuries affecting upper limbs (including arthritis in the hands) was 2.4%. Conclusions The presence of comorbidities should be considered when determining whether eye drops are suitable treatment for glaucoma. Neurodegenerative disease affecting cognition and memory, motor disease, and low vision are common comorbidities that may impact adherence to eye drops, and affected patients may benefit from non-drop treatment modalities.

Investigating the Impact of Prompt Engineering on the Performance of Large Language Models for Standardizing Obstetric Diagnosis Text: Comparative Study.

The accumulation of vast electronic medical records (EMRs) through medical informatization creates significant research value, particularly in obstetrics. Diagnostic standardization across different health care institutions and regions is vital for medical data analysis. Large language models (LLMs) have been extensively used for various medical tasks. Prompt engineering is key to use LLMs effectively. This study aims to evaluate and compare the performance of LLMs with various prompt engineering techniques on the task of standardizing obstetric diagnostic terminology using real-world obstetric data. The paper describes a 4-step approach used for mapping diagnoses in electronic medical records to the International Classification of Diseases, 10th revision, observation domain. First, similarity measures were used for mapping the diagnoses. Second, candidate mapping terms were collected based on similarity scores above a threshold, to be used as the training data set. For generating optimal mapping terms, we used two LLMs (ChatGLM2 and Qwen-14B-Chat [QWEN]) for zero-shot learning in step 3. Finally, a performance comparison was conducted by using 3 pretrained bidirectional encoder representations from transformers (BERTs), including BERT, whole word masking BERT, and momentum contrastive learning with BERT (MC-BERT), for unsupervised optimal mapping term generation in the fourth step. LLMs and BERT demonstrated comparable performance at their respective optimal levels. LLMs showed clear advantages in terms of performance and efficiency in unsupervised settings. Interestingly, the performance of the LLMs varied significantly across different prompt engineering setups. For instance, when applying the self-consistency approach in QWEN, the F1-score improved by 5%, with precision increasing by 7.9%, outperforming the zero-shot method. Likewise, ChatGLM2 delivered similar rates of accurately generated responses. During the analysis, the BERT series served as a comparative model with comparable results. Among the 3 models, MC-BERT demonstrated the highest level of performance. However, the differences among the versions of BERT in this study were relatively insignificant. After applying LLMs to standardize diagnoses and designing 4 different prompts, we compared the results to those generated by the BERT model. Our findings indicate that QWEN prompts largely outperformed the other prompts, with precision comparable to that of the BERT model. These results demonstrate the potential of unsupervised approaches in improving the efficiency of aligning diagnostic terms in daily research and uncovering hidden information values in patient data.

Australian psychologists' knowledge, confidence, and practices in fetal alcohol spectrum disorder diagnostic assessment.

Fetal alcohol spectrum disorder (FASD) is a neurodevelopmental disorder caused by prenatal alcohol exposure (PAE). There are many documented barriers to FASD diagnostic assessment, including a limited number of trained clinicians. This study aimed to establish baseline levels of Australian psychologists' knowledge and practices in FASD assessment to develop training and improve future diagnostic capacity. An online survey was completed by 106 Australian psychologists. The survey elicited respondents' demographics, knowledge about FASD, confidence in various aspects of assessment and perceived future training needs. Respondents reported a broad understanding of the FASD diagnostic term and potential harm of prenatal alcohol exposure (PAE). However, most respondents were not confident in their ability to conduct the psychometric assessments that provide a diagnostic assessment of FASD or ask about PAE. There was a significant positive correlation between the number of correct knowledge items and the psychologists' confidence in conducting FASD assessments. The clinical neuropsychologists demonstrated significantly greater knowledge and confidence in applying FASD diagnostic criteria and assessing PAE than school, clinical, and other psychologists. Most psychologists were more confident in their ability to apply the diagnostic criteria for other neurodevelopmental disorders. Recognition of FASD is growing in Australia, however, further work is required to improve clinicians' understanding of and confidence in completing FASD assessments. Most participants indicated a preference for online training to learn more about FASD assessment.

NIDA and NIAAA quietly drop “preaddiction” RFI

A “Request for Information” (RFI) document issued last year (see NIDA and NIAAA call for information on use of ‘preaddiction’, ADAW April 15, 2023;https://onlinelibrary.wiley.com/doi/10.1002/adaw.33745) from the National Institute on Drug Abuse (NIDA) and the National Institute on Alcohol Abuse and Alcoholism (NIAAA) on the use of the term “preaddiction” has been dropped. There was no official announcement of this, unless you were at the College on Problems of Drug Dependence annual meeting in June 2023, when the decision was presented by NIDA and NIAAA. “Responses to the RFI revealed broad consensus around the need to improve early intervention before substance use progresses to addiction,” NIDA and NIAAA press offices told ADAW last week. “However, the majority of respondents shared concerns that establishing a new diagnostic term would not be constructive. Based on this feedback, NIDA and NIAAA are not encouraging implementation of new diagnostic terms at this time. Instead, other research strategies to help identify people at high risk, improve addiction prevention and early intervention, and address the many barriers that impede the delivery of effective prevention interventions and engagement in care will be pursued. As one example, NIDA, NIAAA, and others are supporting a consensus study by the National Academies of Sciences, Engineering, Medicine (NASEM) to provide a roadmap of steps needed to develop and finance a sustainable infrastructure at the national and/or state level for implementing evidence‐based interventions for preventing psychiatric disorders like addiction.” Work on that NASEM consensus study just began last week (see https://www.nationalacademies.org/our‐work/blueprint‐for‐a‐national‐prevention‐infrastructure‐for‐behavioral‐health‐disorders).

Gorner syndrome as a sign of dyscirculatory disorders

The article discusses the issues of the normal anatomy of the autonomic innervation of the eye muscles, mainly its sympathetic part. The symptoms included in the Claude Bernard Horner's syndrome, which occurs when the sympathetic pupillomotor pathway is affected, are considered. The causes of this syndrome are numerous. The classification of acquired conditions the clinical picture of which involves Horner syndrome is given. Three classes of etiological processes are distinguished: central (suprasegmental and segmental), peripheral, and idiopathic. Nosological components are listed for each of these. The complexity of the topographic anatomy of the sympathetic pathways innervating the eye muscles leads to significant difficulties in diagnosing the level of their lesion. Pathological processes affecting the peripheral part of the sympathetic chain are detected much faster, as the causes that provoked the development of Horner syndrome are often more obvious and diagnostically accessible. Cases of Horner syndrome of central genesis are significantly more difficult in diagnostic terms. The ar ticle discusses additional symptoms that form the clinical picture for stem strokes, tumors of the hypothalamic-pituitary region and brain stem, multiple sclerosis, and various diseases of the spinal cord, where the Claude Bernard Horner's syndrome is part of the clinical picture. In such cases, the analysis of neurological symptoms provides the basis for niveau diagnosis. The most difficult situations are when the only reason for the patient's visit and the objective component of the neurological status is just a triad of symptoms: miosis, partial ptosis, and enophthalmos. The paper presents an example of a similar case from clinical practice, when a patient with an acutely developed isolated left-sided symptom complex, including miosis, ptosis, and enophthalmos, had a focus of lacunar strok e in the lef t thalamo-hypothalamic region.

Atypical Kleine Levin Syndrome: Atypical or “Something Else”

Objective: To describe in some detail published cases who were diagnosed as atypical Kleine-Levin syndrome (KLS), and discuss the validity and usefulness of this diagnostic term. Methods: The English written literature was reviewed using the search terms Atypical KLS, KLS mimic, KLS like and KLS variant. Only reports which provided complete clinical features were reviewed. The present diagnostic criteria of KLS were applied in each case and the reasons why each case was considered as atypical were outlined in a table form. The cases were grouped according to the primary etiologies which could explain the symptoms into infectious, autoimmune, cerebrovascular, head trauma, brain tumor and genetic metabolic disorders. Cases in whom we could not establish a definite diagnosis were coined “atypical “and a few which could not be assigned to a specific group were coined “miscellaneous”. Results: Fifty seven reports describing 60 “atypical“ cases were found. Out of those, 14 suffered from a variety of medical conditions which could explain the symptomology while in 19 cases a definite diagnosis could not reached. Five cases were coined as “miscellaneous” since we could not assign them to a specific group. Conclusion: The eponym “atypical” KLS, refers to patients in whom a variety of medical disorders were associated with sleep-wake disorder, however, it seems appropriate that in such cases the diagnosis should express the primary cause of the symptoms rather than suggesting that those cases are a variant of KLS.

Structural and functional features of the eye in Marfan syndrome. Report 2. Changes in the anatomical complex of the lens

This study assesses the state of the anatomical complex of the lens in MS using UBM. The study was carried out on clinical material previously used by us to analyze changes in the fibrous membrane of the eye in MS. At the first stage, the main (19 patients with MS, 38 eyes) and the control (24 patients with myopia, 48 eyes) groups were formed for comparative evaluation. The formed groups were standardized according to the age of the patients and the axial length of the eye. At the second stage, patients with MS were divided into subgroups depending on the absence or presence of biomicroscopic signs of ectopia lentis (22 and 16 eyes, respectively). For UBM, an ultrasound linear sensor with a scanning frequency of 50 MHz was used (Aviso device, Quantel Medical, France). Various biometric UBM indicators were determined: lens thickness, diameter of the lens, lens-axial length factor, iris-lens angle, iris-lens contact distance, posterior chamber depth, length of the fibers of ciliary zonule, thickness of the ciliary body, sclera-ciliary process angle. There are changes in the anatomical complex of the lens as a whole in MS (in the lens itself, the ciliary zonule, and the ciliary body), which are characterized by an increase in lens thickness and a decrease in the diameter of the lens, an increase in the length of the fibers of the ciliary zonule and a decrease in the thickness of the ciliary body. At the same time, the displacement of the lens detected by optical biomicroscopy (ectopia lentis) can be considered as an advanced stage of changes in the anatomical complex of the lens. UBM provides the possibility of full-fledged visualization of all components of the anatomical complex of the lens in terms of both diagnostics, and monitoring of changes in MS. The question of the advisability of including this method in the algorithm for diagnosing ocular manifestations in order to verify the MS remains open. Possible obstacles may be, on the one hand, related to the need for special and expensive equipment, and on the other hand, the absence of a generally accepted «normal» values of UBM indicators of the anatomical complex of the lens.

Mass spectrometry in clinical laboratory: applications and future prospects

Innovations in laboratory medicine face additional challenges due to the unmet need for extremely precise methods of disease diagnosis. Developments in mass spectrometry-based disease biomarker identification are constantly expanding the field of clinical diagnosis. More mass spectrometry-based in vitro diagnostics are anticipated to move from the bench to the bedside shortly, although several are currently incorporated into standard clinical procedures. The molecular detection by mass spectrometry technique is very effective in diagnosis of the disease and therapeutic monitoring because of its extremely high sensitivity, specificity, and short turnaround time. Mass spectrometry is a potent analytical instrument that may be used to analyse a variety of materials and matrices; its use in clinical laboratory medicine applications is rising. For clinical prognostics and diagnostic purposes, mass spectrometry imaging has been widely utilized to distinguish between healthy and diseased tissues. Modern single-cell studies will benefit from its cutting-edge applications, which will offer comprehensive cellular biochemical data for mechanistic comprehension and, eventually, the development of therapeutic interventions. Within the field of laboratory medicine, the application of mass spectrometry is crucial, especially in terms of diagnostics and therapeutic drug monitoring. This review on the clinical application of mass spectrometry and its future prospects promises an insightful exploration of the evolving landscape of mass spectrometry in clinical settings, delving into its current applications and shedding light on its potential future advancements, for which a comprehensive search in the PubMed, ScienceDirect, and Web of Science databases was conducted.

Speech sound disorder or DLD (phonology)? Towards a consensus agreement on terminology.

The publication of phase 2 of the CATALISE project in 2017 clarified terminology for children with developmental language disorder (DLD) or delay but unintentionally muddied the water for children with unintelligible speech. A diagnostic label of DLD (phonology) indicates poor prognosis and phonological disorder that persists into middle childhood. However, in contrast to other diagnostic labels that fall under the overarching term of speech sound disorder (SSD), DLD (phonology) does not elucidate the characteristics of the child's speech nor does it point us in the direction of appropriate intervention. The aim of this paper is to discuss terminology in SSD leading to an evidence-based model which builds on the model of DLD developed in CATALISE, supports descriptive diagnosis and signposts intervention. Following a focused review of literature proposing or describing terminology for SSD, an expert group of researchers in developmental SSD proposed a revised model of existing terminology. Groups of UK speech and language therapists (SLTs) who provide services for children with SSD were asked to comment on its acceptability and feasibility. A three-level terminology model was developed. This comprised an overarching Level 1 term; Level 2 terms that differentiated SSD of unknown origin from SSD with associated or underlying conditions; and specific diagnostic terms at Level 3 to support further assessment and intervention decisions. Consulted SLTs generally expressed agreement with the proposed terminology and a willingness to adopt it in practice. Existing terminology for childhood SSD provides a good basis for clinical decision-making. A modified version of Dodd's (2005) terminology was found to be acceptable to UK SLTs. There is an evident overlap of SSD with CATALISE terminology. However more detailed and specialist terminology than 'DLD (phonology)' is required to support clinical decision-making. It is proposed that endorsement by the UK Royal College of Speech and Language Therapists would obviate the need for a Delphi process. What is already known on this subject Over nearly a hundred years, as our knowledge and understanding of speech sound disorder (SSD) has increased, so has the terminology that is used to describe those disorders. Current terminology not only describes subtypes of SSD but can also signpost us to effective interventions. With the publication, in 2017, of phase 2 of CATALISE a new term of 'developmental language disorder (DLD) (phonology)' was introduced with the unintentional consequence of challenging more specific descriptive terms for SSD. What this paper adds In the context of CATALISE and DLD (phonology), the history and nature of SSD terminology are reappraised. Building on the model of DLD developed in CATALISE, a tiered model that supports descriptive diagnosis and signposts intervention is proposed for discussion. Clinical implications of this study The proposed model of terminology for SSD provides descriptive and detailed labels that will support accuracy in differential diagnosis of developmental SSD by speech and language therapists. Furthermore, a decision-making tree for SSD demonstrates the pathway from diagnostic use of the terminology to the selection of evidence-based, effective interventions.