Diagnostic Entity Research Articles

Toward greater specificity in the nonspecific: Estimating the prevalence of diagnostic irritability and sleep symptoms in adolescents.

The Diagnostic and Statistical Manual of Mental Disorders (DSM) descriptive criterial approach to diagnosis has been criticized for contributing to comorbidity, heterogeneity within conditions, and nonspecificity across conditions. Much research has examined comorbidity and heterogeneity, but less is known about nonspecificity. Here, we examined two nonspecific symptoms: irritability and sleep disturbance. Both are common, clinically significant, and appear in several DSM disorder criteria sets, but their transdiagnostic prevalence is unknown. Leveraging a nationally representative epidemiological study of adolescents (n = 10,148; ages = 13-18), we first identified all instances where irritability or sleep disturbance appears in DSM-5-TR criteria for bipolar, depressive, anxiety, traumatic stress, or disruptive/impulse-control disorders; then found their DSM-IV equivalents in study variables; and finally estimated their prevalence individually and cumulatively across categories. Weighted lifetime prevalence estimates were 79.5% (95% CI [77.8, 81.2]) for irritability and 60.8% [58.7, 62.9] for sleep disturbance. Associations with age and gender were significant but small. Most youth reported multiple symptoms of irritability (weighted M = 3.04, Mdn = 2) and at least one symptom of sleep disturbance (weighted M = 1.61, Mdn = 1). Both problems were extremely common among individuals with specific disorders but were underestimated by the criteria for those conditions. Results suggest that the high prevalence of DSM-defined irritability and sleep problems may be obfuscated by these symptoms being scattered across diagnostic entities. There is a need for more research on assessing, treating, and understanding problems related to irritability and sleep in their own right, cutting across, rather than confined to, particular diagnoses. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

Juveline ocular factitious disease and its psychological implications

Factitious disorder (FD) is a diagnostic entity in which patients intentionally manipulate clinicians by creating false physical or mental symptoms. Although the disorder is rare, having an early diagnosis is critical because it causes unnecessary health expenditures and tends to become chronic. In this article, we discuss two case reports of ophthalmic manifestations of FD. Although the management of FD is challenging, early detection and referral to a psychologist improves the outcome.

Expanding Pharmacists' Role in the Management of Non-Alcoholic Fatty Liver Disease.

Non-alcoholic fatty liver disease (NAFLD) stands as an increasingly pressing global health challenge, underscoring the need for timely identification to facilitate effective treatment and prevent the progression of chronic liver disorders. Given the projected scarcity of specialized healthcare professionals, particularly hepatologists and gastroenterologists, the role of pharmacists emerges as pivotal in NAFLD management. This article sheds light on the potential of pharmacists within community pharmacy settings, not as diagnostic entities, but as facilitators in recognizing and screening individuals at elevated NAFLD risk using validated non-invasive tools like portable devices and calculators. By prioritizing patient education, referrals, and continuous monitoring, pharmacists can refine NAFLD management, ultimately advancing patient outcomes. Enhancing pharmacists' impact in early NAFLD detection and management can be facilitated through collaborations with healthcare institutions and the incorporation of patient self-assessment tools. This collaborative approach holds promise for further promoting improved liver health within the community.

Contact Endoscopic Surface Vascular and Epithelial Morphology in Leukoplakia and Carcinoma of the Vocal Cords

Purpose Leukoplakia is a macroscopic morphological term for thick white or grey mucosal patches that can represent various histologic diagnostic entities ranging from hyperplasia to malignancy. Aim was the study morphology of the superficial mucosa and microvascular network of the vocal cords in patients with suspected glottic squamous cell carcinoma (SCC) using contact endoscopy (CE). Material and Methods Seventy-nine patients (21 female, 58 male), with a mean age of 57.5 years ± 7.12 (range, 32–73 years), were prospectively enrolled and evaluated. Of these patients, 58 had leukoplakia (Group A/41 males and 17 females, with a mean age of 53.7 years ± 6.65), and 21 (Group B/ 17males and 4 females/ with a mean age of 60.5 years ± 6.04) had malignant lesions (pT1, n = 6; p T2, n = 8; pT3, n = 8; Group B), as proven by the results of the histological examination. Further, 79 non-smokers (control group—group C) were studied. CE imaging findings were classified into five types (I to V) based on the features of the mucosal intra-epithelial capillary loops. CE findings were correlated to the histologic findings. A separate analysis involving smoking status was done. Results The CE-based intraepithelial papillary capillary loop classification score was strongly correlated with the histological findings. Age was strongly associated with both malignancy and bilateral involvement. Smoking habits didn’t significantly differ between patients with unilateral and bilateral SCC. Conclusions CE imaging of the vocal cord mucosal capillaries may be useful for the early detection of glottic SCC and pre-cancerous lesions.

Primary Central Nervous System Lymphoma

Histopathologic classifications of primary central nervous system lymphoma(PCNSL)are covered by two WHO classifications; WHO classification of Tumors: Central Nervous System Tumours(WHO-CNS)and WHO classification of Tumors: Haematolymphoid Tumours(WHO-HAEM). The International Consensus Classification(ICC)is another recent comprehensive classification of hematolymphoid tumors that covers these disease entities. While these classifications mainly share the same principles for categorizing these tumors, there are several differences that should be noted owing to the nature of WHO-CNS(which covers only the lymphomas manifesting in the CNS, and the anatomic sites are described in the titles of some entities)and the introduction of new entities in the latest version(5th)of the WHO-HAEM(WHO-HAEM5). In the WHO-HAEM5, two novel entities related to the perception of PCNSLs are introduced: primary large B-cell lymphoma of immune-privileged sites and lymphomas arising in immune deficiency/dysregulation. These entities are largely based on the underlying biology shared by lymphomas that arise from different sites, including the central nervous system, and they combine and re-classify several types that had been defined separately according to their sites and etiologies in previous versions. Classifications of PCNSLs in future revisions of the WHO-CNS might be described as parts of these novel entities, and nomenclatures of some diagnostic entities may be subject to change accordingly. This review will mainly focus on the classification of lymphomas described in the 5th edition of WHO-CNS, along with its comparison with WHO-HAEM and ICC.

Ependymoma in WHO Classification of Tumours 5th Edition

Ependymoma is a rare central nervous system tumor that occurs in all age groups and is one of the most common childhood malignant brain tumors. Until the 3rd edition of the WHO Classification of Brain Tumours, ependymoma was classified based solely on histologic findings, but advances in molecular analysis led to the incorporation of molecular information into the diagnosis of ependymoma for the first time in the 2016 WHO Classification, 4th edition. However, the low correlation between tumor grade and survival prognosis remained a problem. Unlike other malignant brain tumors, ependymoma is genetically and epigenetically characterized with few identified point mutations. Methylation profiling was found to classify ependymoma into distinct subgroups, and the 2021 WHO Classification, 5th Edition, adopted new classifications by histologic findings, genetic alterations, methylation patterns, and anatomic location. This new classification includes 10 diagnostic entities: 1)supratentorial subependymoma; 2)supratentorial ependymoma, ZFTA-fusion positive; 3)supratentorial ependymoma, YAP1-fusion positive; 4)posterior fossa subependymoma; 5)posterior fossa group A ependymoma; 6)posterior fossa group B ependymoma; 7)spinal subependymoma; 8)spinal ependymoma; 9)spinal myxopapillary ependymoma; and 10)spinal ependymoma, MYCN-amplified. The previously accepted term "anaplastic ependymoma" was dropped. As with other CNS tumors, a new classification was introduced based on an integrated diagnosis that incorporates histologic and molecular diagnosis. In this article, we summarize the molecular classification of ependymoma in the WHO Classification of Brain Tumours, 5th edition.

Evaluating Low HER2 Status in Invasive Breast Carcinoma via HER2 Immunohistochemistry, with HER2 FISH Correlation: A Cohort of 112 Patients.

Recent trials demonstrated clinically significant benefits in HER2-nonamplified breast cancer with HER2-low expression using novel anti-HER2 antibody-drug conjugates. Thus, HER2-low breast cancer was proposed as a separate diagnostic entity. Herein, we reclassify HER2-negative cancers according to the new HER2-low category using a modified system and further investigate HER2-very-low expression. 114 HER2 immunohistochemistry (IHC)-negative invasive breast tumors were identified from the pathology database of Mayo Clinic, Jacksonville, FL, between January 2019 and August 2022. Two blinded breast pathologists (BP) independently rescored HER2 IHC slides at 200x and 400x magnification. Discordant cases between the two BPs were rescored together. The most recent 2018 ASCO/CAP HER2 scoring criteria were used. HER2 (0) was subdivided into HER2 (absent) and HER2 (very low). HER2 FISH testing was performed in all cases. The cohort comprised of 38 (33.3%) HER2 (0) and 76 (66.7%) HER2 (1+) tumors. The first round of rescoring at 200x and 400x magnification resulted in 17 (14.9%) HER2 (absent), 31 (27.2%) HER2 (very low), and 64 (56.2%) HER2 (1+) and 2 (1.8%) HER2 (2+) tumors by BP1 and 20 (17.5%) HER2 (absent), 33 (28.9%) HER2 (very low), and 61 (53.5%) HER2 (1+) tumors by BP2. The combined final rescoring by BP1 and BP2 was as follows: 15 (13.2%) HER2 (absent), 35 (30.7%) HER2 (very low), 63 (55.3%) HER2 (1+), and 1 (0.9%) HER2 (2+) cases. A comparison of the first round of rescoring between two BPs showed substantial agreement with Cohen's kappa value of 0.67. Both comparisons of first rescoring by BP1 and by BP2 to combined final rescoring showed almost perfect agreement with Cohen's kappa value of 0.83.Follow-up FISH studies showed one amplified tumor. Our data support the need for finer granularity, classification, and understanding of HER2-low breast cancers. We also show that reproducibility between trained BP can be obtained, albeit with scoring at high power and low threshold for showing challenging interpretations.

Manual cervical therapy and vestibular migraine: A case series.

Vestibular migraine (VM) is a relatively new diagnostic entity with incomplete knowledge regarding pathophysiological mechanisms and therapeutic guidelines. By reporting the effect of manual cervical therapy (MCT) on people with VM, we suggest a possible role for upper cervical afferents in VM treatment and/or pathogenesis. The objective was to describe the change in clinical presentation and self-reported symptoms of VM corresponding to MCT and followed up to six months. A nonrandomised *ABA design was utilised to consecutively and prospectively evaluate selected patients with diagnosed VM. Symptom characteristics (frequency and intensity) were recorded along with standardised patient-reported outcomes (PROs) to document the response to MCT. Three patients were recruited who met the diagnostic criteria for VM. All three patients demonstrated improvement in both migraine attack and interictal symptom frequency. These improvements mirrored changes in PROs and were sustained over a six-month follow-up period. The improvement that coincided with the intervention including MCT was rapid, observable and sustained. This suggests that the upper cervical spine could be a therapeutic target in VM and may have implications for future research into the pathogenesis of VM.

Tocophobia: a nosological quagmire.

Fear of childbirth exists on a continuum of severity, and the most severe form is commonly referred to as tocophobia. Although a rare entity, tocophobia is a common reason for requesting an elective cesarean section. It is generally considered a specific phobia but is not recognized by the Diagnostic and Statistical Manual of Mental Disorders (DSM) as a diagnostic entity. To improve the assessment and treatment of tocophobia, research is warranted to clarify its relationship with commonly occurring psychiatric disorders in pregnancy.

The Diagnostic Concept of Unipolar Mania: The Missing Entity of the Affective Spectrum.

Although the traditional nosological view interprets mania as strictly connected with depression in the context of manic-depressive illness, unipolar mania (UM), that is, the lifetime occurrence of mania or hypomania in the absence of depression, has been proposed as a necessary diagnostic entity. Epidemiological data estimate that at least 5% of people with type I bipolar disorder never experienced depression. These subjects are more often males with a hyperthymic temperament, a younger age at onset, and more psychotic features. Current classification systems do not formally recognize UM, but different definitions of mania without depression have been proposed. UM should be assessed according to the number of mood episodes, the predominance of manic or hypomanic episodes, and its clinical course. More generally, UM should be considered in the context of an affective spectrum including different clinical phenotypes based on the predominance of depressive or manic symptoms. Additional clinical and epidemiological research in this field is needed.

A case study in applying artificial intelligence-based named entity recognition to develop an automated ophthalmic disease registry

PurposeAdvances in artificial intelligence (AI)-based named entity extraction (NER) have improved the ability to extract diagnostic entities from unstructured, narrative, free-text data in electronic health records. However, there is a lack of ready-to-use tools and workflows to encourage the use among clinicians who often lack experience and training in AI. We sought to demonstrate a case study for developing an automated registry of ophthalmic diseases accompanied by a ready-to-use low-code tool for clinicians.MethodsWe extracted deidentified electronic clinical records from a single centre’s adult outpatient ophthalmology clinic from November 2019 to May 2022. We used a low-code annotation software tool (Prodigy) to annotate diagnoses and train a bespoke spaCy NER model to extract diagnoses and create an ophthalmic disease registry.ResultsA total of 123,194 diagnostic entities were extracted from 33,455 clinical records. After decapitalisation and removal of non-alphanumeric characters, there were 5070 distinct extracted diagnostic entities. The NER model achieved a precision of 0.8157, recall of 0.8099, and F score of 0.8128.ConclusionWe presented a case study using low-code artificial intelligence-based NLP tools to produce an automated ophthalmic disease registry. The workflow created a NER model with a moderate overall ability to extract diagnoses from free-text electronic clinical records. We have produced a ready-to-use tool for clinicians to implement this low-code workflow in their institutions and encourage the uptake of artificial intelligence methods for case finding in electronic health records.

Bone Revisited - Diagnostic Strategies and Specific Entities.

Bone Revisited - Diagnostic Strategies and Specific Entities.

Manual cervical therapy and vestibular migraine: A case series

Background: Vestibular migraine (VM) is a relatively new diagnostic entity with incomplete knowledge regarding pathophysiological mechanisms and therapeutic guidelines. By reporting the effect of manual cervical therapy (MCT) on people with VM, we suggest a possible role for upper cervical afferents in VM treatment and/or pathogenesis. The objective was to describe the change in clinical presentation and self-reported symptoms of VM corresponding to MCT and followed up to six months. Methods: A nonrandomised *ABA design was utilised to consecutively and prospectively evaluate selected patients with diagnosed VM. Symptom characteristics (frequency and intensity) were recorded along with standardised patient-reported outcomes (PROs) to document the response to MCT. Results: Three patients were recruited who met the diagnostic criteria for VM. All three patients demonstrated improvement in both migraine attack and interictal symptom frequency. These improvements mirrored changes in PROs and were sustained over a six-month follow-up period. Conclusions: The improvement that coincided with the intervention including MCT was rapid, observable and sustained. This suggests that the upper cervical spine could be a therapeutic target in VM and may have implications for future research into the pathogenesis of VM.

Ayurvedic Management of Psychogenic Nonepileptic Seizures - A Case Report

ABSTRACT Psychogenic nonepileptic seizures (PNES) are characterized by paroxysmal changes in behavior, consciousness, and autonomic function that resemble epileptic seizures (ES). Disturbances of motor, sensory, autonomic, cognitive, and emotional functions could be seen in patients with PNES. PNES is a heterogeneous condition and has a very diverse etiology. Patients with PNES are often misdiagnosed and are exposed to unnecessary antiseizure medications. The present case report deals with a patient diagnosed of having PNES and opted Ayurvedic treatment for better and sustained relief. The purpose of presenting this clinical case report is to explain the difficulties that are generally involved in the Ayurvedic diagnosis and management of PNES. Yoshapasmara or Yoshapatantraka is not a reliable and authentic Ayurvedic diagnostic entity for PNES. The comorbidity of ES and PNES is well recognized in Ayurveda. ES can be correlated with Doshaja Apasmara and PNES with Agantuja Apasmara. The Doshaja and Agantuja Apasmaras are not the discrete, independent diagnostic entities; rather, they are at the both ends of the same spectrum. The patient was diagnosed as having Agantuja Apasmara, treated with Ayurvedic medicines (Saraswata Choorna and Panchagavya Ghrita) and procedures (Nasya and Dhoomapana). The patient got clinically meaningful improvement with Ayurvedic treatment protocol, especially in headache, seizure episodes, and in depressed mood. Agantuja Apasmara is the most suitable Ayurvedic diagnosis for PNES and Ayurvedic treatment seems to be promising in the management of PNES. The present study findings cannot be generalized and further clinical trials with large sample size and with long term follow-up are required.

Defining & Classifying Idiopathic Sensory Processing Disorder

Abstract Date Presented 04/22/2023 A study examining the characteristics of children identified with idiopathic sensory processing disorder (SPD) and relations among specific types and subtypes of SPD as proposed by the 2007 nosology (Miller et al.) will be presented. A descriptive correlational nonexperimental design was used. Results suggested that current typologies may include more types and subtypes than are clinically useful, and the most effective ways of understanding SPD as its own diagnostic entity are discussed. Primary Author and Speaker: Shelley Mulligan

The memory and identity theory of ICD-11 complex posttraumatic stress disorder.

The 11th version of the International Classification of Diseases (ICD-11) includes complex posttraumatic stress disorder (CPTSD) as a separate diagnostic entity alongside posttraumatic stress disorder (PTSD). ICD-11 CPTSD is defined by six sets of symptoms, three that are shared with PTSD (reexperiencing in the here and now, avoidance, and sense of current threat) and three (affective dysregulation, negative self-concept, and disturbances in relationships) representing pervasive "disturbances in self-organization" (DSO). There is considerable evidence supporting the construct validity of ICD-11 CPTSD, but no theoretical account of its development has thus far been presented. A theory is needed to explain several phenomena that are especially relevant to ICD-11 CPTSD such as the role played by prolonged and repeated trauma exposure, the functional independence between PTSD and DSO symptoms, and diagnostic heterogeneity following trauma exposure. The memory and identity theory of ICD-11 CPTSD states that single and multiple trauma exposure occur in a context of individual vulnerability which interact to give rise to intrusive, sensation-based traumatic memories and negative identities which, together, produce the PTSD and DSO symptoms that define ICD-11 CPTSD. The model emphasizes that the two major and related causal processes of intrusive memories and negative identities exist on a continuum from prereflective experience to full self-awareness. Theoretically derived implications for the assessment and treatment of ICD-11 CPTSD are discussed, as well as areas for future research and model testing. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

A comparison of the International Consensus and 5th WHO classifications of T-cell lymphomas and histiocytic/dendritic cell tumours.

Since the publication in 2017 of the revised 4th Edition of the World Health Organization (WHO) classification of haematolymphoid tumours, here referred to as WHO-HAEM4, significant clinicopathological, immunophenotypic and molecular advances have been made in the field of lymphomas, contributing to refining the diagnostic criteria of several diseases, upgrading entities previously defined as provisional and identifying new entities. This process has resulted in two recent classification proposals of lymphoid neoplasms: the International Consensus Classification (ICC) and the 5th edition of the WHO classification (WHO-HAEM5). In this paper, we review and compare the two classifications in terms of diagnostic criteria and entity definition, focusing on T-cell lymphomas and histiocytic/dendritic cell tumours. Moreover, we update the genetic data of the various pathological entities. The main goal is to provide a tool to facilitate the work of the pathologists, haematologists and researchers involved in the diagnosis and treatment of these haematological malignancies.

#4440 PREVALENCE OF GENES INVOLVED IN HEREDITARY KIDNEY DISEASE AS A TOOL FOR THE DEVELOPMENT OF A GENE PANEL

Abstract Background and Aims Genetic study is the fundamental tool for the diagnosis of Hereditary Kidney Diseases (HKD). The proliferation of its use has led to an increase in diagnostic complexity due to phenotypic overlap and genotypic heterogeneity. The aim of this study is to evaluate the prevalence of genes in our series of adult patients with suspected monogenic kidney disease in order to develop the basis for the elaboration of a gene panel that will make its usefulness in our routine clinical practice profitable. Method A retrospective descriptive observational study was performed with the collection of all genetic studies that were positive in the period between October 2014 and December 2020 in our center. With a description of the causative genes involved, as well as the clinical data of the proband patients who turned out to be carriers of these variants. Descriptive results of continuous variables are expressed as mean and standard deviation (SD) or median and interquartile range (IQR) according to their distribution. For categorical data, frequency and percentage are reported. Results The results of a total of 77 genetic studies on probands were collected, of whom 51% were women with a mean age at diagnosis of 46 years (SD ± 13.4) and 64.9% had a family history of kidney disease. Renal function measured by mean estimated glomerular filtration rate (eGFR) using the CKD-EPI (CKD Epidemiology Collaboration) was 90.1 ml/min/1,73 m2 (SD ± 29.64) with a mean proteinuria quantified in 24-hour urine of 627.9 mg (SD ±43.7) and 7.7% were on renal replacement therapy. (Table 1) 40.25% of probands were carriers of a mutation for Alport syndrome, in this group the most frequent gene was COL4A3 in 50% of cases. The second most frequent entity was autosomal dominant polycystic kidney disease (ADPKD) with 37% of the studies and among these the great majority were carriers of a variant in the PKD1 gene with 96.5%. The remaining diagnostic entities in order of frequency were Fabry disease, autosomal dominant tubulointerstitial nephropathy (ADTKD), congenital anomalies of the kidney and urinary tract (CAKUT), nephrotic syndrome, hereditary angiopathy with nephropathy, aneurysm and cramps syndrome (HANAC) and tuberous sclerosis (Figure 1). Conclusion Alport syndrome was the most frequently identified entity in patients with suspected monogenic renal disease in whom the genetic study was performed. Based on the results of our series, a proposal has been made for the genes to be included in a panel for hereditary renal diseases in our center. The development of these panels increases the efficiency and increases the cost-effectiveness of genetic studies in the diagnosis of these patients.

Existential depression: A meaningful diagnostic entity?

To examine the construct of existential depression and whether it represents a distinct diagnostic entity. Descriptive psychopathology and phenomenology are used to define the characteristics of existential depression and for comparison with other presentations of low mood. Existential depression can be differentiated from other forms of depression by careful appraisal of symptomatology. Drawing attention to this, and likewise other distinguishable yet under-recognised forms of depression, may help stimulate interest in further research on the classification of mood disorders with the prospect of greater diagnostic specificity and more precise treatment matching. Existential depression is a clinically discernible diagnostic entity.

Compensation and network dedifferentiation in amnestic mild cognitive impairment (a‐MCI): A resting‐state study

AbstractBackgroundThe diagnostic entity of amnestic mild cognitive impairment (a‐MCI) presents an annual conversion rate to Alzheimer’s disease of about 10‐15%. Considering that a‐MCI may correspond to the prodromal stage of Alzheimer’s disease, understanding the associated functional brain changes becomes relevant in the context of early detection of this type of dementia. Consequently, the aim of this work was to explore the changes in brain functional connectivity associated to a‐MCI, of 3 closely related brain networks (Default Mode Network ‐DMN‐, Salience Network ‐SAL‐, Central Executive Network ‐CEN‐) by means of resting‐state functional magnetic resonance imaging (rs‐fMRI).MethodThe sample was composed of 59 participants, comprising a control group of 30 (13 ♀) participants and an a‐MCI group of 29 (12 ♀) participants. An independent component analysis (ICA) was performed for the 3 proposed networks (DMN, SAL & CEN) using the CONN toolbox.ResultCompared with the control group, the a‐MCI group showed increased functional connectivity: A) within the CEN in the left inferior frontal gyrus, being this increase positively correlated with the cognitive state of the a‐MCI measured through the Mini‐Mental State Examination (MMSE); and B) between the DMN and SAL in frontal regions (orbital anterior and middle frontal gyri), being correlated with worse scores in immediate, short‐term and long‐term free recall measured through a verbal learning test (TAVEC).ConclusionThe present data support that the a‐MCI participants developed not only compensatory processes mediated by the CEN, but also non‐compensatory effects mediated by DMN and SAL functional interactions.