Diagnostic Categories Research Articles

Clinical and neurocognitive profiles of a combined clinical high risk for psychosis and clinical control sample: latent class analysis.

The clinical high-risk (CHR) state for psychosis demonstrates considerable clinical heterogeneity, presenting challenges for clinicians and researchers alike. Basic symptoms, to date, have largely been ignored in explorations of clinical profiles. We examined clinical profiles by using a broader spectrum of CHR symptoms, including not only (attenuated) psychotic, but also basic symptoms. Patients (N = 875) of specialised early intervention centres for psychosis in Germany and Switzerland were assessed with the Schizophrenia Proneness Instruments and the Structured Interview for Psychosis-Risk Syndromes. Latent class analysis was applied to CHR symptoms to identify clinical profiles. Additionally, demographics, other symptoms, current non-psychotic DSM-IV axis I disorders and neurocognitive variables were assessed to further describe and compare the profiles. A three-class model was best fitting the data, whereby basic symptoms best differentiated between the profiles (η2 = 0.08-0.52). Class 1 had a low probability of CHR symptoms, the highest functioning and lowest other psychopathology, neurocognitive deficits and transition-to-psychosis rate. Class 2 had the highest probability of basic and (attenuated) positive symptoms (excluding hallucinations), lowest functioning, highest symptom load, most neurocognitive deficits and highest transition rate (55.1%). Class 3 was mostly characterised by attenuated hallucination, and was otherwise intermediate between the other two classes. Comorbidity rates were comparable across classes, with some class differences in diagnostic categories. Our profiles based on basic and (attenuated) psychotic symptoms provide clinically useful entities by parsing out heterogeneity in clinical presentation. In future, they could guide class-specific intervention.

'Insufficient'/'Inadequate'/'Non-Diagnostic' Category of the WHO Reporting System for Lung Cytopathology, 2022: A Survey About Use in Practice.

The new 'WHO Reporting System for Lung Cytopathology' (2022) includes an 'Insufficient'/'Inadequate'/'Non-diagnostic' category. Although they recommend that each laboratory should choose one term to report this diagnostic category, they do not recommend one term over the others. Our aim was to evaluate the use of these three terms in pulmonary FNACs among Spanish pathologists. A web-based survey among Spanish pathologists using Google Forms was performed. It included 14 yes/no and multiple-choice questions, the latter with an open-text option where it was possible to give a different answer from the ones given. Some questions inquired about their daily practice routine whilst others proposed different cytological examples with the intention of knowing how they would report those particular cases. Twenty-eight participants (18 cytopathologists, two general pathologists and seven residents) from 17 different Spanish hospitals completed the survey. Most of the respondents use more than one term of this diagnostic category, and there is a lack of reproducibility on the criteria to use one specific term. There is a need to clearly define this category to reduce variability between pathologists.

A Framework for Case Simulation Surveys: Advancing Clinical Diagnosis Decision-Making

Introduction: Case simulation surveys enhance diagnostic criteria. This review presents an approach to developing such surveys, highlighting the need for standardized methods in studying rare and complex pathologies to improve patient outcomes. Methods: An in-depth literature review was conducted using PubMed with search terms: "Decision Analysis," "Forced-Choice," and "Classification Criteria". These terms were chosen to cover a broad range of relevant literature on decision-making frameworks and diagnostic criteria development. Studies on systemic sclerosis and systemic lupus erythematosus were selected to illustrate complex conditions with which case simulation surveys are effective. The methodology includes: 1) Reviewing literature to identify clinical characteristics; 2) Designing a representative base case; 3) Developing case variations; 4) Piloting the survey with experts; and 5) Analyzing results statistically. Results: This approach was effectively applied in studies of systemic sclerosis and systemic lupus erythematosus. From these examples, we identified key elements and best practices that contributed to developing a more standardized approach. This included designing a base case, systematically developing case variations, and piloting the surveys with expert audiences. This iterative process addressed challenges such as case specificity and the oversight of rare presentations, resulting in a more reliable methodology. This paper discusses these advancements, demonstrating how the standardized methodology enhances the consistency and applicability of case simulation surveys in clinical research. Conclusion: Systematically developed case simulation surveys are powerful tools for improving diagnostic techniques and classification criteria. They enable researchers to study clinical decision-making in controlled environments, significantly contributing to refining diagnostic criteria and treatment protocols.

Stepwise identification of prodromal dementia: Testing a practical model for primary care.

Prodromal dementia is largely underdiagnosed in primary care. To develop a clinical model for detecting prodromal dementia within the operative boundaries of primary care practice. The study employed the Functional Activities Questionnaire (FAQ) and Montreal Cognitive Assessment (MoCA) to evaluate a "functional-cognitive" step-down screening model, in which the MoCA is administered subsequent to reported symptoms on the FAQ. It classified participants from the Alzheimer's Disease Imaging Initiative to three diagnostic categories: (1) healthy cognition (n = 396), (2) mild cognitive impairment without conversion (n = 430), and (3) prodromal dementia assessed 24 months before diagnosis (n = 164). Analyses indicated that the step-down model (Model 1) performed significantly better than an alternative model that applied the FAQ as a single measure (Model 2) and compared well with another model that administered both screening measures to all participants (Model 3). Gradient Boosting Trees classifications yielded the following estimations for Model 1/Model 2/ Model 3, respectively: Sensitivity = 0.87/0.77/0.89, Specificity = 0.68/0.47/0.70, PPV = 0.73/0.40/0.75, NVP = 0.84/0.81/0.87, F1 Score = 0.79/0.52/0.81, AUC = 0.78/0.67/0.79. These analyses support the proposed model. The study offers algorithms for validated measures, which were developed from a well characterized clinical sample. Their accuracy will likely improve further with new data from diverse clinical settings. These results can serve primary care in a timely manner in light of the recent advances in pharmacological treatment of dementia and the expected increase in demand for screening.

Status of inpatients with pediatric epilepsy in children's hospitals in China (2016-2021).

Pediatric epilepsy is the most common disease of pediatric neurological diseases in China. Current demographic characteristics and economic burdens are needed to guide public health policy. In this study, we provide the demographic characteristics and economic burden of pediatric epilepsy patients in China from 2016 to 2021, and describe the change trend and correlation of demographic characteristics and economic burden by province. Using data from the Futang Research Center of Pediatric Development, we conducted a demographic-based cross-sectional study of pediatric epilepsy patients in 29 children's hospitals in China to assess changes in the distribution and economic burden over 6 years and related factors. We obtained per capita disposable income information from the Economic Statistical Bulletin of the National Bureau of Statistics of China and the statistical bureaus of provincial administrative regions. Demographic, diagnostic classification proportion and distribution trends, and economic burden from 2016 to 2021 were verified for pediatric patients with epilepsy. From 2016 to 2021, there were 149,375 patients diagnosed with epilepsy. The proportion of patients younger than 3 years decreased significantly from 51.13% to 29.43% (P=0.00853, R2=0.9803). The root-mean-square-error between the Inter-Provincial Visits Indexes decreased from 1.70 to 0.90, decreasing significantly (R2=0.8306). The disease burden decreased from 17.26% to 12.11% with a significant upward trend (P=0.02417, R2=0.8817). A negative correlation between disease burden and the Inter-Provincial Visits Index (P=0.0383) was observed, along with a positive correlation with the proportion of patients younger than 3 years old (P<0.0001). From 2016 to 2021, the proportion of young patients, population mobility and economic burden on patients decreased, and healthcare level of pediatric epilepsy improved. In addition, based on the current observations, the healthcare level of pediatric epilepsy in Western and Central China is lower than in other regions, and the economic burden on patients is higher than in other regions. In the future, these areas require higher priority concerning policy and financial support.

Accuracy and Value of Time-resolved MRA for Spinal Vascular Malformations.

Retrospective. To explore the value of time-resolved CE-MRA in evaluating and locating the SVM prior to digital subtraction angiography (DSA). Spinal vascular malformations (SVM) can be detected with time-resolved contrast-enhanced MRA(CE-MRA). 178 patients with suspected SVM who underwent time-resolved CE-MRA examination and DSA were included in this study. DSA served as the reference standard. The type of SVM, feeding arteries, fistula/nidus, and proximal segment of draining veins were evaluated on time-resolved CE-MRA. The diagnostic performance and classification performance of time-resolved CE-MRA in the diagnosis of SVM is summarized in terms of overall accuracy, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV). The difference of catheterized vessels during spinal vascular DSA between actual and estimated number was also analyzed. 147 patients were diagnosed with SVM (20 cervical, 118 thoracolumbar, and 9 deep lumbosacral) and 31 patients were diagnosed with non-SVM according to DSA findings. The diagnostic sensitivity, specificity, PPV, NPV, and accuracy of time-resolved CE-MRA for subtype of SVM were 0.961, 0.961, 0.993, 0.806 and 0.961, respectively. The overall accuracy of time-resolved CE-MRA for the diagnosis of SVM was 0.821, and was 0.783, 0.793, and 0.778 for cervical, thoracolumbar, and deep lumbosacral SVM, respectively. The actual number of catheterized vessels during spinal vascular DSA with time-resolved CE-MRA as the reference was lower than the estimated number of catheterized vessels in both SVM and non-SVM patients (P<0.001). Time-resolved CE-MRA could accurately evaluate SVM and reduce the number of catheterized vessels during spinal vascular DSA.

What is schizophrenia - symptomatology.

Schizophrenia is a highly heterogenous disorder with substantial interindividual variation in how the illness is experienced and how it presents clinically. The disorder is composed of primary symptom clusters-positive symptoms, negative symptoms, disorganization, neurocognitive deficits, and social cognitive impairments. These, along with duration, severity, and excluding other possible etiologies, comprise the diagnostic criteria for the disorder outlined in the two commonly used diagnostic classification systems-the Diagnostic Statistical Manual of Mental Disorders, Fifth Edition, Text Revision and the International Classification of Diseases, 11th Revision. These primary symptoms as well as accessory symptoms (mood disturbances, anxiety, violence) and comorbidities (substance use, suicidality) bear upon each other to varying degrees and impact functional outcomes. The following review presents two patient cases illustrating the clinical heterogeneity of schizophrenia, the natural history of the illness and diagnosis, followed by the current understanding of the primary symptom clusters, accessory symptoms, and comorbidities. In addition to noting symptom prevalence, onset, and change over time, attention is paid to the impact of symptoms on functional outcome.

Cervical Screening Outcomes in Reproductive-Age Women at Peripheral Health Centers

Objective: to ascertain the prevalence of different cervical abnormalities in connection t pap smear results with age distribution of patient. Method: The demographic makeup of the study population was deduced by calculating the percentages of patients in each age group. Numerous diseases were also identified using the results of the Pap smear test, and percentages associated with each diagnosis were computed. This methodology made it possible to thoroughly analyze the participants' diagnoses and age distribution, which revealed trends in cervical health. One hundred participants in all had Pap smears performed as part of the study. Four age groups were established based on the age distribution data gathered: 18–25, 25–35, 35–45, and 45–55 years old. Result: The majority of participants (37%) were found to be between the ages of 25 and 35, while there was a wide variation of participant ages overall. Pap smear tests are crucial for identifying potentially malignant or precancerous diseases, as evidenced by the majority of patients (71%) receiving a diagnosis of cancer or intraepithelial lesions. There was also representation from the following age groups: 18–25 (9%), 35–45 (28%), and 45–55 (4%). Four percent of the cases had atypical squamous cell lesions, two percent had low-grade squamous intraepithelial lesions, and one percent had high-grade lesions. Conclusion: These findings advance customized screening programs and therapies aimed at specific age groups and diagnostic categories as well as our knowledge of cervical health patterns. People who are fertile should definitely get screened for cervical cancer because the age group of 25 to 35 accounts for a substantial portion of diagnoses. The importance of Pap smear testing for early identification and preventive medicine is underscored by the prevalence of intraepithelial lesions or cancer.

Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes.

With increased application of Next Generation Sequencing (NGS) in the diagnosis of monogenic Ehlers-Danlos syndromes, there is an increased probability to identify variants of unknown significance. Additionally, in some cases no genetic alteration may be identified whilst there is a strong clinical suspicion on a monogenic EDS type. The diagnostic value of non-genetic investigations, which prior to NGS were quite commonly used to support the clinical diagnosis of monogenic EDS types, is explored. In addition, new structural/functional investigations that could deliver evidence towards pathogenicity are discussed. It appears that certain functional and/or structural investigations used frequently in the past can remain helpful and can provide additional evidence that may confirm a clinical diagnosis of a monogenic EDS type. However, there is a need for the development of novel structural/functional studies for monogenic types of EDS. The level of evidence of such studies for application in the established diagnostic DNA variant classification criteria remains to be determined.

Prevalence and diversity of retinal disease in adults with Down syndrome.

While epidemiologic data exists for some ophthalmic diseases in people with Down Syndrome (DS), like strabismus and amblyopia, no studies explore the prevalence of retinal disease in people with DS on a large scale. This study utilized a literature review and exploratory epidemiology analysis to examine patterns of retinal disease in people with DS. To evaluate previous studies on physiology and/or anatomy in retinal models representing DS or in the retinas of people with DS, all relevant terms related to Down Syndrome, retina, and retinal diseases were searched in PubMed and Scopus. Data from the health platform TriNetX was then utilized to determine the prevalence and prevalence odds ratio (POR) of retinal disorders, including diabetic retinopathy and age-related macular degeneration (AMD), within the U.S. adult population with DS. The final literature review included 28 of 535 screened studies and found that a DS diagnosis was associated with atypical retinal vascularization, retinal thickening, and abnormal neuronal development. Of 55,198,979 individuals included in the population study, 97,795 (0.18%) had a recorded DS diagnosis. Compared to the population without DS, the population with DS had significantly increased PORs for any retinal diagnosis (3.78, 95% CI 3.63-3.93), for 16 of 18 recorded individual retinal diagnoses, and for 4 of 5 major diagnostic categories, including diabetic retinopathy (2.56, 95% CI 2.33-2.82) and macular degeneration (4.01, 95% CI 3.42-4.71). The conclusion is that retinal anomalies common to people with DS likely contribute to higher rates of recorded retinal disease. However, future studies should evaluate this relationship.

Dysregulated HPA axis during postnatal developmental stages in the BTBR T+ Itpr3tf/J mouse: A model of autism spectrum disorder.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder. Some children with ASD show enhanced cortisol response to stress. BTBR T+ Itpr3tf/J (BTBR) mice, an ASD model, display behavior consistent with the three diagnostic categories of ASD and exhibit an exaggerated response to stress in adulthood. However, it remains unclear how basal corticosterone levels change and how the hypothalamic-pituitary-adrenal axis responds to stress during the early life stages in BTBR mice. In this study, we found that basal corticosterone levels showed characteristic changes, peaking at weaning during postnatal development in both BTBR and control C57BL/6J (B6J) mice. Furthermore, we observed higher corticosterone and corticotropin-releasing hormone levels in BTBR mice than in B6J mice following acute stress exposure during weaning; however, adrenocorticotropic hormone levels were lower in BTBR mice. Glucocorticoid receptor mRNA expression levels in the hippocampus and lateral septum after stress were higher in BTBR mice than in B6J mice. This study documented changes in corticosterone levels at baseline during postnatal development in mice and showed that BTBR mice exhibited disrupted stress responses at weaning.

Neural circuit basis of pathological anxiety.

Anxiety disorders are the most prevalent mental health conditions worldwide. Unfortunately, the understanding of the precise neurobiological mechanisms that underlie these disorders remains limited. Current diagnostic classifications, based on observable symptoms rather than underlying pathophysiology, do not capture the heterogeneity within and across anxiety disorders. Recent advances in functional neuroimaging have provided new insights into the neural circuits implicated in pathological anxiety, revealing dysfunctions that cut across traditional diagnostic boundaries. In this Review, we synthesize evidence that highlights abnormalities in neurobehavioural systems related to negative valence, positive valence, cognitive systems and social processes. We emphasize that pathological anxiety arises not only from heightened reactivity in acute threat ('fear') circuits but also from alterations in circuits that mediate distant (potential) and sustained threat, reward processing, cognitive control and social processing. We discuss how circuit vulnerabilities can lead to the emergence and maintenance of pathological anxiety. Once established, these neural abnormalities can be exacerbated by maladaptive behaviours that prevent extinction learning and perpetuate anxiety disorders. By delineating the specific neural mechanisms in each neurobiological system, we aim to contribute to a more comprehensive understanding of the neurobiology of anxiety disorders, potentially informing future research directions in this field.

Identification of key genes and drug recommendations in diffuse large B-cell lymphoma based on analysis of glutathione-related genes.

Various malignancies can be efficiently combated by focusing on glutathione. It is unclear how glutathione-related genes link to diffuse large B-cell lymphoma (DLBCL). Clinical information was gathered from DLBCL patients, and differences in glutathione-related differentially expressed genes (DEGs) between DLBCL and healthy groups were found. Enrichment analysis was run on the DEGs associated with glutathione. We discovered hub genes in glutathione, confirmed hub genes' capacity for diagnosis and function prediction, and estimated drug sensitivity. Immune microenvironmental variations between healthy and DLBCL people were assessed, and hub genes for transcription factor (TF) targeting and miRNAs were found. The glutathione-related DEGs were linked to biological processes such as response to oxidative stress and response to xenobiotic stimulus, according to enrichment analysis. Out of DEGs associated with glutathione, six hub genes were chosen. In the DLBCL population, there was a notable upregulation of the six hub genes. All the genes' AUC values in the diagnostic ability category were more than 0.7, showing strong hub gene diagnostic capacity. The DLBCL population had a high level of T cell infiltration, according to immune infiltration analysis techniques. Similar activities, such as the cell cycle G2/M phase transition and the negative control of organelle formation, are demonstrated by gene function prediction for Hub. According to drug sensitivity prediction, there was a favorable link between KPNA2 with Pracinostat, BRCA1 with B-7100, and LEE-011. The gene KPNA2 was shown to be concurrently targeted by many miRNAs and TFs, according to the miRNA-gene-TF interaction network. The relationship between DLBCL and glutathione-related genes was uncovered by our research, and six glutathione genes were linked to DLBCL. These genes might be used as diagnostic biomarkers or targets for treatment for DLBCL patients.

Precision medicine for patients with salivary gland neoplasms: Determining the feasibility of implementing a next-generation sequencing-based RNA assay in a hospital laboratory

Objective: Diagnosing neoplasms of the salivary gland is challenging, as morphologic features of these tumors are complex, and well-defined diagnostic categories have overlapping features. Many salivary gland neoplasms are associated with recurrent genetic alterations. The utilization of RNA-based targeted next-generation sequencing (NGS) panels for the detection of cancer-driving translocations and mutations is emerging in the clinical laboratory. Our objective was to conduct a proof-of-concept study to show that in-house molecular testing of salivary gland tumors can enhance patient care by supporting morphologic diagnoses, thereby improving therapeutic strategies such as surgical options and targeted therapies. Material and Methods: Residual formalin-fixed paraffin-embedded salivary gland neoplasm specimens from a cohort of 17 patients were analyzed with the Archer FusionPlex Pan Solid Tumor v2 panel by NGS on an Illumina NextSeq550 platform. Results: We identified structural gene rearrangements and single nucleotide variants in our patient samples that have both diagnostic and treatment-related significance. These alterations included PLAG1, MAML, and MYB fusions and BRAF, CTNNB1, NRAS, and PIK3CA mutations. Conclusion: Our RNA-based NGS assay successfully detected known gene translocations and mutations associated with salivary gland neoplasms. The genetic alterations detected in these tumors demonstrated potential diagnostic, prognostic, and therapeutic value. We suggest that incorporating in-house ancillary molecular testing could greatly enhance the accuracy of salivary gland fine needle aspiration cytology and small biopsies, thereby better guiding surgical decisions and the use of targeted therapies.

Charting brain GABA and glutamate levels across psychiatric disorders by quantitative analysis of 121 1H-MRS studies.

Psychiatric diagnosis is based on categorical diagnostic classification, yet similarities in genetics and clinical features across disorders suggest that these classifications share commonalities in neurobiology, particularly regarding neurotransmitters. Glutamate (Glu) and gamma-aminobutyric acid (GABA), the brain's primary excitatory and inhibitory neurotransmitters, play critical roles in brain function and physiological processes. We examined the levels of Glu, combined glutamate and glutamine (Glx), and GABA across psychiatric disorders by pooling data from 121 1H-MRS studies and further divided the sample based on Axis I disorders. Statistically significant differences in GABA levels were found in the combined psychiatric group compared with healthy controls (Hedge's g = -0.112, p = 0.008). Further analyses based on brain regions showed that brain GABA levels significantly differed across Axis I disorders and controls in the parieto-occipital cortex (Hedge's g = 0.277, p = 0.019). Furthermore, GABA levels were reduced in affective disorders in the occipital cortex (Hedge's g = -0.468, p = 0.043). Reductions in Glx levels were found in neurodevelopmental disorders (Hedge's g = -0.287, p = 0.022). Analysis focusing on brain regions suggested that Glx levels decreased in the frontal cortex (Hedge's g = -0.226, p = 0.025), and the reduction of Glu levels in patients with affective disorders in the frontal cortex is marginally significant (Hedge's g = -0.172, p = 0.052). When analyzing the anterior cingulate cortex and prefrontal cortex separately, reductions were only found in GABA levels in the former (Hedge's g = - 0.191, p = 0.009) across all disorders. Altered glutamatergic and GABAergic metabolites were found across psychiatric disorders, indicating shared dysfunction. We found reduced GABA levels across psychiatric disorders and lower Glu levels in affective disorders. These results highlight the significance of GABA and Glu in psychiatric etiology and partially support rethinking current diagnostic categories.

Detection of diagnostic somatic copy number alterations from cerebrospinal fluid cell-free DNA in brain tumor patients

The gold standard for precise diagnostic classification of brain tumors requires tissue sampling, which carries relevant procedural risks. Brain biopsies often have limited sensitivity and fail to address tumor heterogeneity, because small tissue parts are being examined. This study aims to explore the detection and quantification of diagnostically relevant somatic copy number aberrations (SCNAs) in cell-free DNA (cfDNA) extracted from cerebrospinal fluid (CSF) in a real-world cohort of patients with defined brain tumor subtypes. A total of 33 CSF samples were collected from 30 patients for cfDNA extraction. Shallow whole-genome sequencing was conducted on CSF samples containing > 3ng of cfDNA and corresponding tissue DNA from nine patients. The sequencing cohort encompassed 26 samples of 23 patients, comprising 12 with confirmed CNS cancer as compared to 11 patients with either ambiguous CNS lesions (n = 5) or non-cancer CNS lesions (n = 6). After mapping and quality filtering SCNAs were called by depth-of-coverage analyses with a binning of 5.5 Mbp. SCNAs were exclusively identified in CSF cfDNA from brain tumor patients (10/12, 83%). In tumor patients, SCNAs were detectable in cfDNA from all patients with, but also in five of seven patients without tumor cells detected by CSF cytopathology. A substantial number of shared SCNAs were traceable between tissue and CSF in matched pair analyses. Additionally, some SCNAs unique to either CSF or tissue indicating spatial heterogeneity or tumor evolution. Also, diagnostically relevant genomic alterations as well as essential and desirable SCNAs as implemented in the current WHO classification of CNS tumors for certain primary brain tumor subtypes were traceable. In summary, this minimally invasive cfDNA-based LB approach employing shallow whole genome sequencing demonstrates potential for providing a molecularly informed diagnosis of CNS cancers, mapping tumor heterogeneity, tracking tumor evolution, and surveilling tumor patients. Further prospective trials are warranted.

Long Term Ventilation in Pediatric Central Apnea: Etiologies and Therapeutic Approach over a Decade.

This retrospective study aimed to analyze the clinical characteristics, ventilatory strategies, and effectiveness of ventilation in pediatric patients with central apneas treated at the Sleep Medicine and Long-Term Ventilation Unit of the Bambino Gesù Children's Hospital in Rome from 2012 to 2022. Among all ventilated patients at our Center from January 2012 to December 2022, we retrospectively included children with a cAHI ≥ 1 events/h on baseline poly(somno)graphic study. Additional parameters assessed included the underlying disease, type of ventilation (non-invasive vs. invasive), age at ventilation onset, ventilation mode, and transcutaneous capnometry parameters. To assess the effectiveness of ventilation on central apneas, we compared the cAHI at baseline and on ventilation. Sixty-seven patients met the inclusion criteria for central apnea (cAHI > 1 events/h). Diagnoses included hypoxic-ischemic encephalopathy, 15 (22.4%); Ondine syndrome, 14 (20.9%); polymalformative syndrome, 10 (14.9%); Prader-Willi syndrome, 8 (11.9%); brain tumor, 6 (9.0%); Down syndrome, 4 (6.0%); ROHHAD syndrome, 2 (3.0%); other infrequent pathologies were, Arnold-Chiari II, primary central apnea, epilepsy, lisosomal diseases, hydrocephalus, myopathy, obesity, Rett Syndrome. Pressure-supported ventilation (PSV) was the most common mode used (45 out 67 patients, 67.2%), followed by pressure-controlled ventilation (PCV) (15 out 67 patients, 22.4%) and continuous positive airway pressure (CPAP) (7 out 67 patients, 10.4%). Statistically significant improvement (p < 0.05) in cAHI was observed in patients with polymalformative syndrome (3.5 vs. 0.3, p = 0.01), hypoxic-ischemic encephalopathy (3.1 vs. 0.1, p = < 0.01), and Prader-Willi syndrome (3.5 vs. 0.1, p = 0.03), while there was no significant improvementn in children with brain tumor (6.2 vs. 1.5, p = 0.21). Central apneas are present in children with various underlying pathologies. Ventilatory strategies tailored to the specific diagnosis and severity of central apneas yield significant improvements in cAHI. PSV was the preferred ventilation mode in this study and there was notable effectiveness across different diagnostic categories. PCV was employed in most severe cases. CPAP was exclusively used in patients with predominantly obstructive sleep apneas.

Regional neural functional efficiency across schizophrenia, bipolar disorder, and major depressive disorder: a transdiagnostic resting-state fMRI study

Abstract Background Major psychiatric disorders (MPDs) are delineated by distinct clinical features. However, overlapping symptoms and transdiagnostic effectiveness of medications have challenged the traditional diagnostic categorisation. We investigate if there are shared and illness-specific disruptions in the regional functional efficiency (RFE) of the brain across these disorders. Methods We included 364 participants (118 schizophrenia [SCZ], 80 bipolar disorder [BD], 91 major depressive disorder [MDD], and 75 healthy controls [HCs]). Resting-state fMRI was used to caclulate the RFE based on the static amplitude of low-frequency fluctuation, regional homogeneity, and degree centrality and corresponding dynamic measures indicating variability over time. We used principal component analysis to obtain static and dynamic RFE values. We conducted functional and genetic annotation and enrichment analysis based on abnormal RFE profiles. Results SCZ showed higher static RFE in the cortico-striatal regions and excessive variability in the cortico-limbic regions. SCZ and MDD shared lower static RFE with higher dynamic RFE in sensorimotor regions than BD and HCs. We observed association between static RFE abnormalities with reward and sensorimotor functions and dynamic RFE abnormalities with sensorimotor functions. Differential spatial expression of genes related to glutamatergic synapse and calcium/cAMP signaling was more likely in the regions with aberrant RFE. Conclusions SCZ shares more regions with disrupted functional integrity, especially in sensorimotor regions, with MDD rather than BD. The neural patterns of these transdiagnostic changes appear to be potentially driven by gene expression variations relating to glutamatergic synapses and calcium/cAMP signaling. The aberrant sensorimotor, cortico-striatal, and cortico-limbic integrity may collectively underlie neurobiological mechanisms of MPDs.

Fine needle aspiration cytology diagnoses of follicular thyroid carcinoma: results from a multicenter study in Asia.

This study was designed to compare diagnostic categories of thyroid fine needle aspiration cytology (FNAC) and incidence of thyroid tumors in the multi-institutional Asian series with a special focus on diagnostic category IV (suspicious for a follicular neoplasm) and follicular thyroid carcinomas (FTCs). Distribution of FNAC categories, incidence of thyroid tumors in resection specimens and cytologic diagnoses of surgically confirmed follicular adenomas (FAs) and FTCs were collected from 10 institutes from five Asian countries and were compared among countries and between FAs and FTCs. The frequency of category IV diagnoses (3.0%) in preoperative FNAC were significantly lower compared to those in Western countries (10.1%). When comparing diagnostic categories among Asian countries, category IV was more frequent in Japan (4.6%) and India (7.9%) than in Taiwan (1.4%), Korea (1.4%), and China (3.6%). Similarly, incidence of FAs and FTCs in surgical resection specimens was significantly higher in Japan (10.9%) and India (10.1%) than in Taiwan (5.5%), Korea (3.0%), and China (2.5%). FTCs were more commonly diagnosed as category IV in Japan (77.5%) than in Korea (33.3%) and China (35.0%). Nuclear pleomorphism, nuclear crowding, microfollicular pattern, and dyshesive cell pattern were more common in FTCs compared with FAs. Our study highlighted the difference in FNAC diagnostic categories of FTCs among Asian countries, which is likely related to different reporting systems and thyroid cancer incidence. Cytologic features such as nuclear pleomorphism, nuclear crowding, microfollicular pattern, and dyshesive cell pattern were found to be useful in diagnosing FTCs more effectively.

Diagnostics and classification of fractures of the thoracic and lumbar spine in adults : Approach depending on the bone structure

The epidemiology, treatment and prognosis of thoracolumbar vertebral fractures are fundamentally influenced by the bone quality of the patient. In individuals with healthy bone structure, ahigh-energy trauma is typically required to cause afracture. In contrast, osteoporosis can cause fractures and also be present as acomorbid pathology in traumatic fractures. Comprehensive diagnostics and a precise classification are essential for appropriate treatment. This narrative review outlines the diagnostic approach and classification of thoracolumbar vertebral fractures depending on the bone quality as the basis of treatment. In addition to aphysical examination, conventional radiographs with the patient in a standing position and computed tomography (CT) scans of the affected region serve as the foundation for fracture classification. Supplementary magnetic resonance imaging (MRI) primarily assesses discoligamentous and neurological structures of the spine as well as the age of the fracture. In suspected cases of osteoporotic fractures, ashort-tau inversion recovery (STIR) sequence of the entire thoracic and lumbar spine is recommended for reliable detection of bone marrow edema. For patients with healthy bone structure, the AOSpine classification is used, whereas the osteoporotic fracture (OF) classification and the OF score are applied in cases of osteoporosis.