Current Diagnostic Criteria Research Articles

Myocardial fatty foci on cardiac MRI in an adult with tuberous sclerosis complex.

We report cardiac MRI findings in a 38-year-old female Tuberous sclerosis complex (TSC) patient with regressed rhabdomyomas. Presence of myocardial fatty foci are associated with multiorgan involvement, although they are not a part of the current TSC diagnostic criteria. Presence of abnormal first pass perfusion and late Gadolinium enhancement in TSC patients should be carefully interpreted to avoid misdiagnosis.

Ziabetus (Prediabetes): A Harbinger of Critical Stage in the Continuum of Glucose Metabolism Disorder: A Review

Background: Prediabetes is a metabolic condition characterized by blood glucose levels higher than normal but below the threshold for diabetes mellitus. It represents a critical stage in the progression towards type 2 diabetes mellitus (T2DM) and is associated with an increased risk of cardiovascular disease and other complications. The two major pathophysiologic defects responsible for losing glucose tolerance are insulin resistance and β-cell glucose insensitivity, both appearing in subjects of Intermediate Hyperglycaemia. In classical literature, Unani physicians have described the initial symptoms and factors leading to the pathology, the risk factors are described in terms of ‘Su-e-mizaj’ as per the concept of Tibb. So, it is considered in the context of Ziabetus which is described as a disease that develops due to Sue-mizaj haar (abnormal hot temperament). The symptoms mentioned in Unani medicine are increased frequency of micturition (ants and flies are attracted to urine), increased thirst, nocturia, dryness of mouth and whole body, fatigue, loss of weight, malaise, and cramps in lower extremities. The modern drug-based approach for the management of Intermediate Hyperglycaemia is associated with inherent drawbacks, including toxicity, tolerability, cost, and efficacy. Objective: The purpose of this review is to provide an in-depth understanding of prediabetes concerning the classical literature of Greek medicine based on the analysis of certain parameters like etiopathophysiology, current diagnostic criteria, risk factors, and evidence-based management strategies. By synthesizing findings from epidemiological studies, and clinical trials, this paper aims to enhance understanding of prediabetes and facilitate effective preventive measures and interventions. Keywords: Prediabetes, Intermediate hyperglycaemia, Impaired Glucose Tolerance, Impaired Fasting Glucose, Insulin Resistance.

Are the concepts of "chronic mania" in German-speaking psychiatry around 1900 early contributions to the disorder of the adult form of attention deficit hyperactivity disorder (ADHD)?

The adult form of attention deficit hyperactivity disorder (ADHD) has increasingly become afocus of adult psychiatry. Despite long-established diagnostic criteria and specific therapeutic approaches for the disorder, the common misconception that ADHD is a"fad" has persisted. Examining the history of psychiatry can make an educational contribution by showing that the adult form of ADHD is a continuously existing illness phenomenon. The present study examines the discussion of sometimes prominent authors about "chronic mania" in German-speaking psychiatry around 1900. The individual concepts were analyzed for their content and compared with each other and with modern diagnostic manuals for adult ADHD. The aim of this work is to question and discuss whether these "chronic-manic concepts" are part of the conceptual history of adult ADHD and whether agap in the history of this disorder can be filled with their help. It is concluded that in the early twentieth century neurologists reported and discussed about patients who nowadays would almost certainly receive the diagnosis of ADHD. The psychiatrists had difficulty in classifying this disorder into their nosological schemes but their "chronic-manic concepts" show clear parallels to the current diagnostic criteria for adult ADHD and its symptoms.

Characterization of depression subtypes and their relationships to stressor profiles among middle-aged and older adults: An analysis of the canadian longitudinal study on aging (CLSA)

The current diagnostic criteria for depression do not sufficiently reflect its heterogeneous clinical presentations. Associations between adverse childhood experiences (ACEs), allostatic load (AL), and depression subtypes have not been extensively studied. Depression subtypes were determined based on clinical presentations, and their relationships to AL biomarkers and ACEs were elucidated in a sample of middle-aged and older adults. Participants from the Canadian Longitudinal Study on Aging who screened positive for depression were included (n = 3966). Depression subtypes, AL profiles and ACE profiles were determined with latent profile analyses, and associations between them were determined using multinomial logistic regression. Four depression subtypes were identified: positive affect, melancholic, typical, and atypical. Distinct associations between depression subtypes, stressor profiles and covariates were observed. Among the subtypes compared to positive affect, atypical subtype had the most numerous significant associations, and the subtypes had unique relationships to stressor profiles. Age, sex, smoking status, chronic conditions, marital status, and physical activity were significant covariates. The present study describes distinct associations between depression subtypes and measures of stress (objective and self-reported), as well as related factors that differentiate subtypes. The findings may inform more targeted and integrated clinical management strategies for depression in individuals exposed to multiple stressors.

Unraveling the Complexities of Polycystic Ovarian Syndrome: A Comprehensive Review

Polycystic Ovarian Syndrome (PCOS) is a complex endocrine disorder affecting reproductive-age women, characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovarian morphology. This comprehensive review delves into the multifaceted nature of PCOS, exploring its etiology, pathophysiology, clinical manifestations, diagnostic criteria, and management strategies. Key topics include the role of insulin resistance and hyperinsulinemia in PCOS pathogenesis, the impact of hormonal imbalances on menstrual irregularities and fertility, and the association of PCOS with metabolic syndrome and cardiovascular risk factors. Furthermore, the review discusses current diagnostic criteria and controversies surrounding PCOS diagnosis, as well as evidence-based approaches to treatment, encompassing lifestyle modifications, pharmacological interventions, and assisted reproductive technologies. By synthesizing current knowledge and emerging research findings, this review aims to provide a comprehensive overview of PCOS for clinicians, researchers, and individuals affected by this prevalent endocrine disorder.

Looking for ALPS: The value of a combined assessment of biochemical markers.

Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder caused by defect of the extrinsic apoptotic pathway. The current diagnostic criteria combine clinical features and typical biomarkers but have not been the object of clear international consensus. We conducted a retrospective study on pediatric patients who were investigated for autoimmune cytopenia and/or lymphoproliferation at the CHU Sainte-Justine Hospital over 10 years. Patients were screened using the combination of TCRαβ+ CD4- CD8- "double negative" (DN) T cells and soluble plasmatic FAS ligand (sFASL). Among the 398 tested patients, the median sFASL and DN T cells were 200 ng/mL and 1.8% of TCRαβ+ T cells, respectively. sFASL was highly correlated with vitamin B12 levels. We identified five patients diagnosed with ALPS for whose sFASL and vitamin B12 levels were the more discriminating biomarkers. While ALPS diagnostic criteria had high sensibility, their predictive value remained low. sFASL level can efficiently discriminate patients with ALPS when using the appropriate thresholds. Our study highlights the need for an international consensus to redefine the place and threshold of biological biomarkers for ALPS diagnosis.

Challenging in cases of voluntary recognition in Ecuador

Recurrent aphthous stomatitis is characterized by the appearance of one or more painful ulcers with loss of continuity of the epithelium, it is variable in shape, number and size. It is observed in almost all ages, social classes, races and sexes. It is considered multifactorial, currently its causes are not fully defined. Its treatment includes local and systemic measures based on drugs that have anti-inflammatory effects, antibiotics, anesthetics; pain relievers, vitamin supplements, antiviral drugs and immunomodulators. This article aims to demonstrate the efficacy of oral oleozon in the treatment of canker sores. The case of a 49-year-old patient is described, with a history of classic Dengue, without family pathological history and who met the current diagnostic criteria. The etiological investigation is suggested, it is taken into account that the patient had not been treated with another medication and the efficacy of topical Oleozón in the treatment of this condition was confirmed.

2. Diagnosis of Chronic Pancreatitis

Chronic pancreatitis (CP) is a clinically defined, usually progressive chronic inflammatory disease of the pancreas based on a combination of signs and symptoms. Current criteria for diagnosis rely on overt moderate-severe morphologic changes on cross-sectional imaging. Late-stage disease is an irreversible condition associated with lost pancreatic function and complications that lead to poor quality of life (QOL). Historically treatment is symptomatic, supportive and often ineffective. This article describes our approach to the diagnosis of CP and discusses the limitations of current diagnostic criteria. Clinical unmet needs include reliably making a diagnosis of early stages of CP, accurately predicting disease progression and establishing biomarkers of different stages of CP. Addressing these needs will offer an opportunity for targeted approaches to prevent progression to end-stage disease.

Atypical isolated cataplexy: two case reports and a mini-review

ABSTRACT Cataplexy is the sudden loss of muscle tone often provoked by emotion such as laughter or excitement. Cataplexy is one of the essential diagnostic features of Narcolepsy type 1 (NT1). We describe two cases of isolated cataplexy with different outcomes, highlighting the diagnostic and prognostic challenges. There is conflicting literature as to whether it is a legitimate standalone diagnosis or an early warning sign of narcolepsy. Our cases do not fit with current diagnostic criteria for narcolepsy, yet still share some clinical or laboratory features. These ambiguous cases question what the mechanistic relationship between narcolepsy and cataplexy may be.

Practical method in the diagnosis of diabetic ketoacidosis: end-tidal carbon dioxide

Objectives: Diabetic ketoacidosis (DKA) poses a life-threatening risk in uncontrolled diabetes. Current diagnostic criteria rely on invasive measures, leading to potential delays in treatment initiation. This study aimed to assess the diagnostic utility of noninvasive end-tidal carbon dioxide (EtCO2) measurements in DKA patients. Methods: A prospective, cross-sectional study was conducted in a tertiary-level Emergency Medicine Clinic from January 2021 to January 2023. Participants included adults with DKA symptoms and those with stable vital signs as controls. EtCO2 levels were measured using a capnograph device. Diagnostic criteria for DKA were blood glucose ≥250 mg/dL, ketonuria, ketonemia, and metabolic acidosis (pH<7.3 or bicarbonate <15 mEq/dL). Statistical analysis was performed using SPSS Statistics. Results: Of 730 participants, 120 had DKA, 410 did not, and 200 served as controls. EtCO2 levels significantly differed between DKA, non-DKA, and control groups (P<0.05). EtCO2 correlated with pH, lactate, base deficit, and bicarbonate (P<0.05). ROC analysis showed an AUC of 0.86 for EtCO2 in diagnosing DKA (P<0.01), with 91.67% sensitivity and 74.39% specificity at a cut-off value 23.7. Conclusion: This study suggests that EtCO2 measurement is a valuable noninvasive tool for diagnosing and assessing the severity of DKA in the emergency department. An EtCO2 threshold of <23.7 could prompt consideration of DKA in patients with elevated blood glucose levels. More extensive multicenter studies are warranted to validate these findings further. EtCO2 measurement could facilitate early DKA diagnosis and improve patient outcomes.

Circadian Pattern in Restless Legs Syndrome: Implications for Treatment Posology

AbstractThe symptoms of restless legs syndrome (RLS) follow a circadian pattern, as inducated in the current RLS diagnostic criteria. Indeed, subjects with mild-to-moderate RLS suffer or not from RLS symptoms depending on the time of day, resembling an above-threshold state periodically followed by a below-threshold state. Although the circadian clock is crucial in the clinical features of RLS, research assessing the ultimate drivers of circadian rhythmicity is still very limited. In the present review, we show current evidence on circadian variations of neurotransmitters involved in the pathophysiology of RLS (systemic iron metabolism, brain iron homeostasis, adenosine, dopamine, glutamate, and endogenous opioids). Secondly, an overview of available therapies for RLS is presented, including information on current recommendations for symptomatic treatments in RLS.We discuss the importance of further research into the circadian oscillations that occur in RLS, so that they can be managed, and a protective below-threshold state can be established on an individualized basis. In addition, we also discuss the current dosing of the medications prescribed in RLS symptomatic treatments, and how circadian factors should be considered to better adjust dosing on an individualized basis and increase the therapeutic benefit.

Chronic obstructive pulmonary disease (COPD) and COPD-like phenotypes.

Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease. Historically, two COPD phenotypes have been described: chronic bronchitis and emphysema. Although these phenotypes may provide additional characterization of the pathophysiology of the disease, they are not extensive enough to reflect the heterogeneity of COPD and do not provide granular categorization that indicates specific treatment, perhaps with the exception of adding inhaled glucocorticoids (ICS) in patients with chronic bronchitis. In this review, we describe COPD phenotypes that provide prognostication and/or indicate specific treatment. We also describe COPD-like phenotypes that do not necessarily meet the current diagnostic criteria for COPD but provide additional prognostication and may be the targets for future clinical trials.

Use of data-independent acquisition mass spectrometry to identify an objective serum indicator of the need for osteoporotic therapeutic intervention

Osteoporosis is characterized by weakened bone microstructure and loss of bone mass. Current diagnostic criteria for osteoporosis are based on the T-score, which is a measure of bone mineral density. However, osteoporotic fragility fractures can occur regardless of the T-score, underscoring the need for additional criteria for the early detection of patients at fracture risk. To identify indicators of reduced bone strength, we performed serum proteomic analysis using data-independent acquisition mass spectrometry with serum samples from two patient groups, one with osteoporosis but no fractures and the other with osteopenia and fragility fractures. Collective evaluation of the results identified six serum proteins that changed to a similar extent in both patient groups compared with controls. Of these, extracellular matrix protein 1 (ECM1), which contributes to bone formation, showed the most significant increase in serum levels in both patient groups. An ELISA-based assay suggested that ECM1 could serve as a serum indicator of the need for therapeutic intervention; however, further prospective studies with a larger sample size are necessary to confirm these results. The present findings may contribute to the provision of early and appropriate therapeutic strategies for patients at risk of osteoporotic fractures. SignificanceThis study aimed to identify objective serum indicators of the need for therapeutic intervention in individuals at risk of osteoporotic fracture. Comprehensive proteome analyses of serum collected from patients with osteoporosis but no fractures, patients with osteopenia and fragility fractures, and controls were performed by data-independent acquisition mass spectrometry. Collective evaluation of the proteome analysis data and ELISA-based assays identified serum ECM1 as a potential objective marker of the risk of fragility fractures in patients with osteoporosis or osteopenia. The findings are an important step toward the development of appropriate bone health management methods to improve well-being and maintain quality of life.

Hypersensitivity pneumonitis: application of a new diagnostic algorithm to a time series of the disease

ABSTRACT Background The diagnostic criteria for Hypersensitivity pneumonitis (HP) have changed over time. Our aim is to apply a recent diagnostic algorithm to a historical series of patients diagnosed with HP to assess its distribution according to current diagnostic criteria and the diagnostic confidence achieved. Research design and methods Application to each patient the algorithm criteria. The diagnosis was HP (≥90%), provisional high (70–89%) or low confidence (51–69%) or non-HP (unlikely) (≤50%); or HP, provisional or non-HP, if they had lung biopsy. Results 129 patients [mean age 64 ± 12 years; 79 (61.2%) women] were included of which 16 (12.4%) were diagnosed on the basis of high clinical suspicion. After applying the algorithm, 106 patients (82.2%) could be evaluated and 83 (78.3%) had a diagnosis of HP or high confidence. Lung biopsy was able to establish a diagnosis of certainty in another 21 patients and a provisional diagnosis in 9 more [total, 113 (87.6%)]. The 16 patients without strict diagnostic criteria for HP had a low confidence diagnosis. A total of 56 lung biopsies (64.4%) could have been avoided according to the new guidelines. Conclusions The application of this algorithm achieves a high diagnostic yield in HP, significantly reducing the number of lung biopsies required.

Diagnostic shift in first episode psychosis: Results from the 2-year follow-up of the “Parma Early Psychosis” program

PurposeAlthough the stability of current diagnostic criteria for people with First Episode Psychosis (FEP) is essential for treatment, it still remains poorly investigated. As its examination necessarily requires a prospective evaluation of diagnostic trajectories, the aims of the current longitudinal investigation were: (a) to assess diagnostic changes in an Italian FEP population treated within an “Early Intervention in Psychosis” service during a 2-year follow-up period, and (b) to identify potential sociodemographic and clinical moderators of diagnostic instability at entry. MethodsAll participants were FEP individuals, aged 12–35 years. Their primary diagnosis was formulated both at baseline and at the end of the follow-up. At entry, they also completed the Positive And Negative Syndrome Scale (PANSS) and the Global Assessment of Functioning (GAF) scale. As measure of diagnostic stability, the Kappa statistic was first calculated. The associations of diagnostic shift with baseline sociodemographic and clinical characteristics were then analyzed using a logistic model with the diagnostic change as dependent variable. Finally, a propensity score was calculated, based on logistic analysis results. Results221 (50.1 %) FEP participants changed their initial diagnosis. The highest prospective diagnostic stability was found for initial diagnosis of schizophrenia (93.9 %) and affective spectrum psychoses (92.4 %). Diagnostic instability was high for initial diagnosis of brief psychotic disorder (100 %), schizophreniform disorder (100 %) and psychotic disorder not otherwise specified (92.1 %). The best predictors of diagnostic change were previous contact with neuropsychiatry services, shorter duration of untreated psychosis and higher baseline levels of disorganization. ConclusionsDiagnostic stability is crucial for treatment and clinical decision making. Addressing instability in FEP diagnoses and detecting its moderators at entry are important challenges for future diagnostic development of early psychosis.

Tumor-like Lesions in Primary Angiitis of the Central Nervous System: The Role of Magnetic Resonance Imaging in Differential Diagnosis.

Primary Angiitis of the Central Nervous System (PACNS) is a rare disease and its diagnosis is a challenge for several reasons, including the lack of specificity of the main findings highlighted in the current diagnostic criteria. Among the neuroimaging pattern of PACNS, a tumefactive form (t-PACNS) is a rare subtype and its differential diagnosis mainly relies on neuroimaging. Tumor-like mass lesions in the brain are a heterogeneous category including tumors (in particular, primary brain tumors such as glial tumors and lymphoma), inflammatory (e.g., t-PACNS, tumefactive demyelinating lesions, and neurosarcoidosis), and infectious diseases (e.g., neurotoxoplasmosis). In this review, the main features of t-PACNS are addressed and the main differential diagnoses from a neuroimaging perspective (mainly Magnetic Resonance Imaging-MRI-techniques) are described, including conventional and advanced MRI.

Identification of Potential Blood-Based Biomarkers for Frailty by Using an Integrative Approach

Introduction: Although frailty is a geriatric syndrome that is associated with disability, hospitalization, and mortality, it can be reversible and preventable with the appropriate interventions. Additionally, as the current diagnostic criteria for frailty include only physical, psychological, cognitive, and social measurements, there is a need for promising blood-based molecular biomarkers to aid in the diagnosis of frailty. Methods: To identify candidate blood-based biomarkers that can enhance current diagnosis of frailty, we conducted a comprehensive analysis of clinical data, messenger RNA-sequencing (RNA-seq), and aging-related factors using a total of 104 older adults aged 65–90 years (61 frail subjects and 43 robust subjects) in a cross-sectional case-control study. Results: We identified two candidate biomarkers of frailty from the clinical data analysis, nine from the RNA-seq analysis, and six from the aging-related factors analysis. By using combinations of the candidate biomarkers and clinical information, we constructed risk prediction models. The best models used combinations that included skeletal muscle mass index measured by dual-energy X-ray absorptiometry (adjusted p = 0.026), GDF15 (adjusted p = 1.46E-03), adiponectin (adjusted p = 0.012), CXCL9 (adjusted p = 0.011), or apelin (adjusted p = 0.020) as the biomarker. These models achieved a high area under the curve of 0.95 in an independent validation cohort (95% confidence interval: 0.79–0.97). Our risk prediction models showed significantly higher areas under the curve than did models constructed using only basic clinical information (Welch’s t test p < 0.001). Conclusion: All five biomarkers showed statistically significant correlations with components of the frailty diagnostic criteria. We discovered several potential biomarkers for the diagnosis of frailty. Further refinement may lead to their future clinical use.

Radiomic-Based Biomarkers for the Evaluation of Prosthetic Heart Valve Infective Endocarditis in Non-Attenuation Correction [18F]FDG PET/CT Images

Although there have been crucial advancements in the diagnostic and treatment approaches, the mortality rate of infective endocarditis is still an ongoing challenge in clinical practice. [18F]FDG PET/CT imaging has recently proven its potential role in the early identification of prosthetic valve endocarditis (PVE). Due to radiomics’ rising applicability, recent studies exhibit promising outcomes in the clinical setting. The aim of the present study is the evaluation of potential radiomic-based biomarkers of non-attenuation-corrected (NAC) [18F]FDG PET images for the diagnosis of PVE. An adequate pre-processing and segmentation of the prosthetic ring metabolic activity were performed. A reproducibility analysis prior to the image-based biomarkers’ identification was conducted in terms of the intraclass correlation coefficient (ICC) derived from the variations in the radiomic extraction configurations (bin number and voxel size). After the reliability analysis, statistical analysis was performed by means of the Mann–Whitney U Test to study the differences between the PVE groups. Only p values &lt; 0.05 after the Benjamini Hochberg correction procedure for multiple comparisons were considered statistically significant. Eight ML classification models for PVE classification based on radiomic features were evaluated. Overall, 45.2% and 95.7% of the radiomic features showed a consistency ICC above 0.82, demonstrating great reproducibility against variations in the bin number and interpolation thickness, respectively. Variations in interpolation thickness demonstrated great reproducibility in absolute agreement with 80.0% robust features, proving a non-dependency relationship with radiomic values. In the present study, the utility of potential radiomic-based biomarkers in the diagnosis of PVE in NAC [18F]FDG PET/CT images has been evaluated. Future studies will be required to validate the use of this technology as a valuable tool to support the current PVE diagnostic criteria.

The application of vestibular tests in the diagnosis of Meniere’s disease – interpretation of results and practical implications in clinical practice

&lt;br&gt;&lt;b&gt;Introduction:&lt;/b&gt; Meniere’s disease is a condition characterized clinically by episodes of vertigo, hearing loss, tinnitus, and a sensation of fullness in the ear. The symptoms are caused by the endolymphatic hydrops. Despite numerous studies, the exact mechanism of its onset remains unknown. The current diagnostic criteria published by international societies are based on clinical symptoms. Due to the variable clinical presentation of the disease, there is a need to search for effective diagnostic tools.&lt;/br&gt; &lt;br&gt;&lt;b&gt;Material and methods:&lt;/b&gt; The article discusses various methods assessing inner ear function in the diagnosis of Meniere’s disease, including video Head Impulse Test, videonystagmography with caloric tests, vestibular evoked myogenic potentials, dynamic posturography, and electrocochleography. The results of aforementioned tests with patterns typical for Meniere’s disease are also presented.&lt;/br&gt; &lt;br&gt;&lt;b&gt;Conclusions:&lt;/b&gt; This article presents a comprehensive diagnostic review of Meniere’s disease using vestibular organ examination methods, emphasizing the importance of various research methods for an accurate understanding and diagnosis of this complex disease.&lt;/br&gt;

Cortico-basal syndrome and cortico-basal degeneration: From the clinical diagnosis to the lesional substrate for an adapted care

Cortico-basal degeneration is a relatively uncommon cause of degenerative parkinsonism in the elderly. From a clinical point of view, it manifests as a cortico-basal syndrome (CBS), featuring a highly asymmetrical akinetic-rigid syndrome, dystonia, myoclonus and cognitive-behavioral impairment with predominant apraxia. Other clinical phenotypes are possible, including variants with mainly language or behavioral impairment, or with axial, symmetrical parkinsonism resembling progressive supranuclear palsy (PSP). Current diagnostic criteria take into account the heterogeneity of clinical presentations. However, a diagnosis of certainty can only be reached by a pathological study, with the evidence of TAU-positive intraneuronal inclusions. Indeed SCB may be underpinned by other lesional substrates, ranging from frontotemporal degeneration to Alzheimer's disease. Symptom management must be early, multidisciplinary and adapted to the progression of the disorder. The identification of the pathological substrate is an essential prerequisite for pathophysiological therapeutic trials.