Clinical Purposes Research Articles

Down syndrome and DYRK1A overexpression: relationships and future therapeutic directions.

Down syndrome is a genetic-based disorder that results from the triplication of chromosome 21, leading to an overexpression of many triplicated genes, including the gene encoding Dual-Specificity Tyrosine Phosphorylation-Regulated Kinase 1A (DYRK1A). This protein has been observed to regulate numerous cellular processes, including cell proliferation, cell functioning, differentiation, and apoptosis. Consequently, an overexpression of DYRK1A has been reported to result in cognitive impairment, a key phenotype of individuals with Down syndrome. Therefore, downregulating DYRK1A has been explored as a potential therapeutic strategy for Down syndrome, with promising results observed from in vivo mouse models and human clinical trials that administered epigallocatechin gallate. Current DYRK1A inhibitors target the protein function directly, which tends to exhibit low specificity and selectivity, making them unfeasible for clinical or research purposes. On the other hand, antisense oligonucleotides (ASOs) offer a more selective therapeutic strategy to downregulate DYRK1A expression at the gene transcript level. Advances in ASO research have led to the discovery of numerous chemical modifications that increase ASO potency, specificity, and stability. Recently, several ASOs have been approved by the U.S. Food and Drug Administration to address neuromuscular and neurological conditions, laying the foundation for future ASO therapeutics. The limitations of ASOs, including their high production cost and difficulty delivering to target tissues can be overcome by further advances in ASO design. DYRK1A targeted ASOs could be a viable therapeutic approach to improve the quality of life for individuals with Down syndrome and their families.

Correlation of cerebral small vessel disease burden with outcome after lower extremity amputation

AimsThis study assessed whether changes associated with cerebral small vessel disease (CSVD) evaluated from head computed tomography (CT) images captured for non-related clinical purposes predict overall survival (OS), leg salvage (LS), and amputation-free survival (AFS) after lower extremity amputation (LEA). MethodsWe retrospectively included a cohort of 240 patients who had undergone a lower extremity amputation in Tampere University Hospital between the years 2007 and 2020 and had a head CT scan (within one year before amputation). A neuroradiologist graded the white matter lesions (WMLs) and reported infarcts, and the latter's effects on OS, LS, and AFS were evaluated. ResultsAltogether, 162 (67.5 %) and 91 (38.1 %) patients had WMLs and infarcts, respectively. Mild/moderate (HR 1.985, CI 95 % 1.317–2.992) and severe (HR 2.259, CI 95 % 1.501–3.399) WMLs and infarcts (HR 1.413, CI 95 % 1.029–1.940) were associated with inferior OS. After a minor amputation, mild/moderate (HR 2.012, CI 95 % 1.054–3.843) and severe (HR 3.879, CI 95 % 2.096–7.180) WMLs were similarly associated with inferior AFS. ConclusionsOverall, WML and infarcts detected on head CT scans were associated with impaired OS after LEA and AFS after minor LEA. Evaluation of CSVD could provide useful prognostic information for clinicians.

A real-world multi-center RNA-seq benchmarking study using the Quartet and MAQC reference materials

Translating RNA-seq into clinical diagnostics requires ensuring the reliability and cross-laboratory consistency of detecting clinically relevant subtle differential expressions, such as those between different disease subtypes or stages. As part of the Quartet project, we present an RNA-seq benchmarking study across 45 laboratories using the Quartet and MAQC reference samples spiked with ERCC controls. Based on multiple types of ‘ground truth’, we systematically assess the real-world RNA-seq performance and investigate the influencing factors involved in 26 experimental processes and 140 bioinformatics pipelines. Here we show greater inter-laboratory variations in detecting subtle differential expressions among the Quartet samples. Experimental factors including mRNA enrichment and strandedness, and each bioinformatics step, emerge as primary sources of variations in gene expression. We underscore the profound influence of experimental execution, and provide best practice recommendations for experimental designs, strategies for filtering low-expression genes, and the optimal gene annotation and analysis pipelines. In summary, this study lays the foundation for developing and quality control of RNA-seq for clinical diagnostic purposes.

Measuring childbirth-related posttraumatic stress disorder: Psychometric properties of the Italian version of the City Birth Trauma Scale (City BiTS).

The City Birth Trauma Scale (City BiTS) assesses postpartum posttraumatic stress disorder (PTSD) based on the Diagnostic and Statistical Manual of Mental Disorders (5th ed.) criteria. Although it has been validated worldwide, predictive validity has not been previously examined. Moreover, no Italian version of the scale exists. This study aimed to test the bifactor latent structure and alternative models, internal consistency, test-retest reliability, convergent validity, divergent validity, and predictive validity of the City BiTS. Women (N = 629) who had given birth within the past 3 months completed an online survey including sociodemographic and obstetric characteristics, the City BiTS, the Impact of Event Scale-Revised, and the Edinburgh Postnatal Depression Scale. After 3 months, women completed the City BiTS again and reported their intention to breastfeed during the 1-year postpartum. Exploratory factor analysis confirmed the two-factorial structure. In confirmatory factor analysis, the two-factorial solution showed the best model fit. Internal consistency was good to excellent for the subscales and the total scale. Correlation analyses showed strong convergent validity with the Impact of Event Scale-Revised, high divergent validity with the Edinburgh Postnatal Depression Scale, high test-retest reliability, and good predictive validity with the intention to exclusively breastfeed. Moreover, the Birth-Related Symptoms subscale distinguished between different types of delivery. The City BiTS-Italian is the first measure evaluating and diagnosing childbirth-related PTSD symptoms based on Diagnostic and Statistical Manual of Mental Disorders (5th ed.) in Italy. The factorial structure and validity reported in other cultural contexts were confirmed; moreover, findings add evidence to the scale's temporal stability and predictive validity. Besides contributing to clinical purposes, the City BiTS-Italian will facilitate international comparability regarding the prevalence of PTSD following childbirth. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Validation of a Demography-Based Adaptive QTc Formula using Pediatric and Adult Datasets Acquired from Humans and Guinea Pigs.

A variety of QT rate-correction (QTc) formulae have been utilized for both clinical and research purposes. However, these formulae are not universally effective, likely due to significant influences of demographic diversity on the QT-HR relationship. To address this limitation, we proposed an adaptive QTc (QTcAd) formula that adjusts to subject demographics (i.e., age). Further, we compared the efficacy and accuracy of the QTcAd formula to other widely used alternatives. Using age as a demographic parameter, we tested the QTcAd formula across diverse age groups with different heart rates (HR) in both humans and guinea pigs. Utilizing retrospective human (n=1360) and guinea pig electrocardiogram (ECG) data from in-vivo (n=55) and ex-vivo (n=66) settings, we evaluated the formula's effectiveness. Linear regression fit parameters of HR-QTc (slope and R²) were utilized for performance assessment. To evaluate the accuracy of the predicted QTc, we acquired epicardial electrical and optical voltage data from Langendorff-perfused guinea pig hearts. In both human subjects and guinea pigs, the QTcAd formula consistently outperformed other formulae across all age groups. For instance, in a 20-year-old human group (n=300), the QTcAd formula successfully nullified the inverse HR-QT relationship (R²=5.1E-09, slope=-3.5E-05), while the Bazett formula (QTcB) failed to achieve comparable effectiveness (R²= 0.20, slope=0.91). Moreover, the QTcAd formula exhibited better accuracy than the age-specific Benatar formula (QTcBe), which overcorrected QTc (1-week human QT: 263.8±14.8 ms, QTcAd: 263.8±7.3 ms, p=0.62; QTcBe: 422.5±7.3 ms, p<0.0001). The optically measured pseudo-QT interval (143±22.5 ms, n=44) was better approximated by QTcAd (180.6±17.0 ms) compared to all other formulae. Furthermore, we demonstrated that the QTcAd formula was not inferior to individual-specific QTc formulae. The demography-based QTcAd formula showed superior performance across human and guinea pig age groups, which may enhance the efficacy of QTc for cardiovascular disease diagnosis, risk stratification, and drug safety testing. Corrected QT (QTc) is a well-known ECG biomarker for cardiovascular disease risk stratification and drug safety testing. Various QT rate-correction formulae have been developed, but these formulae do not perform consistently across diverse datasets (e.g., sex, age, disease, species). We introduce a novel QTc formula (QTcAd) that adapts to demographic variability, as the parameters can be modified based on the characteristics of the study population. The formula (QTcAd = QT + (|m|*(HR-HR mean )) - includes the absolute slope (m) of the linear regression of QT and heart rate (HR) and the mean HR of the population (HR mean ) as population characteristics parametersˍUsing datasets from both pediatric and adult human subjects and an animal model, we demonstrate that the QTcAd formula is more effective at eliminating the QT-HR inverse relationship, as compared to other commonly used correction formulae.

Impact of Different Diagnostic Measures on Drug Class Association with Dementia Progression Risk: A Longitudinal Prospective Cohort Study.

The Clinical Dementia Rating Scale Sum of Boxes (CDRSOB) score is known to be highly indicative of cognitive-functional status and is regularly employed for clinical and research purposes. Our aim is to determine whether CDRSOB is consistent with clinical diagnosis in evaluating drug class associations with risk of progression to mild cognitive impairment (MCI) and dementia. We employed weighted Cox regression analysis on longitudinal NACC data, to identify drug classes associated with disease progression risk, using clinical diagnosis and CDRSOB as the outcome. Aspirin (antiplatelet/NSAID), angiotensin II inhibitors (antihypertensive), and Parkinson's disease medications were significantly associated with reduced risk of progression to MCI/dementia and Alzheimer's disease medications were associated with increased MCI-to-Dementia progression risk with both clinical diagnosis and CDRSOB as the outcome. However, certain drug classes/subcategories, like anxiolytics, antiadrenergics, calcium (Ca2+) channel blockers, and diuretics (antihypertensives) were associated with reduced risk of disease progression, and SSRIs (antidepressant) were associated with increased progression risk only with CDRSOB. Additionally, metformin (antidiabetic medication) was associated with reduced MCI-to-Dementia progression risk only with clinical diagnosis as the outcome. Although the magnitude and direction of the effect were primarily similar for both diagnostic outcomes, we demonstrate that choice of diagnostic measure can influence the significance of risk/protection attributed to drug classes and consequently the conclusion of findings. A consensus must be reached within the research community with respect to the most accurate diagnostic outcome to identify risk and improve reproducibility.

Rapid Plasma Proteome Profiling via Nanoparticle Protein Corona and Direct Infusion Mass Spectrometry.

Noninvasive detection of protein biomarkers in plasma is crucial for clinical purposes. Liquid chromatography-mass spectrometry (LC-MS) is the gold standard technique for plasma proteome analysis, but despite recent advances, it remains limited by throughput, cost, and coverage. Here, we introduce a new hybrid method that integrates direct infusion shotgun proteome analysis (DISPA) with nanoparticle (NP) protein corona enrichment for high-throughput and efficient plasma proteomic profiling. We realized over 280 protein identifications in 1.4 min collection time, which enables a potential throughput of approximately 1000 samples daily. The identified proteins are involved in valuable pathways, and 44 of the proteins are FDA-approved biomarkers. The robustness and quantitative accuracy of this method were evaluated across multiple NPs and concentrations with a mean coefficient of variation of 17%. Moreover, different protein corona profiles were observed among various NPs based on their distinct surface modifications, and all NP protein profiles exhibited deeper coverage and better quantification than neat plasma. Our streamlined workflow merges coverage and throughput with precise quantification, leveraging both DISPA and NP protein corona enrichment. This underscores the significant potential of DISPA when paired with NP sample preparation techniques for plasma proteome studies.

Reliability, Concurrent Validity, and Clinical Performances of the Shorter Version of the Roland Morris Disability Questionnaire in a Sample of Italian People with Non-Specific Low Back Pain.

Evaluating the psychometric and clinical performances of the RM-18, the shorter version of the Roland Morris Disability Questionnaire (RMQ), in Italian people with non-specific low back pain (NSLBP) as a time-saving and clinically useful method of assessing disability. This cross-sectional study included 74 people (52 females and 22 males, 53.03 ± 15.25 years old) with NSLBP. The RM-18, the RMQ, the Oswestry Disability Index (ODI), and a pain intensity numerical rating scale (NRS) were administered. Psychometric testing included reliability by internal consistency (Cronbach's alpha) and test-retest measurement (Intraclass Correlation Coefficient, ICC2.1), and concurrent validity by comparing the RM-18 with the RMQ and the ODI (Pearson's r correlation). Two separate regression analyses were performed to investigate the different impact of RM-18 and RMQ on NRS. Cronbach's α of RM-18 was 0.92 and ICC (2,1) = 0.96. Strong correlations were found with the RMQ and the ODI (r = 0.98; r = 0.78, respectively). The regression models showed that the RM-18 and the RMQ similarly impacted the NRS (p < 0.001). The RM-18 showed satisfactory psychometric testing and similarly impacted the NRS when compared to the RMQ. It can be recommended for clinical and research purposes in Italian people with NSLBP.

Adaptation and psychometric validation of the Kannada Version of the Vanderbilt Fatigue Scale: a tool for effective assessment of listening-related fatigue

ABSTRACT The Vanderbilt Fatigue Scale (VFS-A) is a self-reported scale for assessing listening-related fatigue among adults with hearing loss and communication-related difficulties. This study aims to translate the VFS-A into Kannada and validate it among the Indian population. The original version of the VFS-A was translated and culturally adapted into Kannada according to widely accepted guidelines for cross-cultural adaptation of scales for different languages. This involved forward translation, backward translation, critical assessment by an expert panel, cognitive debriefing, and validation measures. In the validation phase, the VFS-A was administered to 276 participants with hearing loss, along with a standard hearing assessment. The Fatigue Severity Scale (FSS) was used to assess convergent validity. The VFS-A has high internal consistency (Cronbach's α = 0.976) across items and sub-domains. An exploratory factor analysis revealed that the Kannada version of VFS-A data was satisfactorily fit, assuming a unidimensional factor model structure. Assessment of associations between FSS and VFS-A scores revealed a moderate positive correlation (r = 0.422; p = 0.001), suggesting good convergent validity. The Kannada version of the VFS-A is a psychometrically valid tool for assessing listening-related fatigue that may be useful for clinical and research purposes.

Translation and validation of the Tinnitus Functional Index (TFI) into Kannada: a tool for clinical and research use in the Indian population

Purpose The Tinnitus Functional Index (TFI) is a widely recognized measure for evaluating tinnitus and is frequently used in both therapeutic and research contexts. Unfortunately, TFI is currently not available in any Indian languages. In a multilingual country like India, cross-cultural adaptation, translation, and validation of such scales in regional languages are critical to improving their use for clinical and research purposes. Therefore, this study focused on translating and validating the TFI in Kannada for use among the Indian population. Materials and methods The original version of TFI was translated with the help of audiologists and linguistic experts who were proficient in Kannada. The translated version was content validation by five audiologists and a cognitive debriefing by native speakers to check the familiarity of words. The final version (TFI-K) was then administered to 181 participants with tinnitus. Along with the TFI, other scales like Tinnitus Handicap Inventory (THI) were also obtained to check the convergent validity. The obtained data was then subjected to various statistical analyses like internal consistency, convergent and discriminant validity, and factor analysis. Results The TFI-K was found to have an excellent internal consistency (Cronbach’s α = 0.974) and good convergent validity (p < 0.001; r = 0.778) with THI-K. A principal component analysis with varimax rotation showed communalities ranging from 0.64 to 0.91. Scree plots with the TFI-K component showed a sharp decline after the first factor and approximately four factors above the eigenvalue of 1. The factor analysis results suggest that the TFI-K has a structurally intact 8-factor loading, with a few exceptions that are discussed in detail. Conclusion The TFI-K has demonstrated remarkable dependability and satisfactory integrity, making it a valuable tool for assessment and treatment planning in clinical and research settings.

The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease.

Genetic disorders pose great challenges for affected individuals and their families, as they must cope with the irreversible nature of the disease and a life-long dependence on medical assistance and treatment. Children and adolescents dealing with Pompe disease (PD) often struggle to keep up with their peers in physical activities. To gain valuable insights into their subjective experiences and better understand their perception and coping related to daily challenges linked to their condition and treatment, the use of standardized questionnaires is crucial. This study introduces the novel PompeQoL 1.0 questionnaire for children and adolescents with PD, designed for comprehensive assessment of both disease-specific FDH and HRQoL through self- and proxy reports. Content validity was ensured through patients' and parents' involvement at the initial stages of development and in subsequent cognitive debriefing process. Participants found the questionnaire easy to understand, answerable, relevant, and comprehensive. Adjustments based on feedback from patients and their parents improved its utility as a patient- and observer-reported outcome measure. After careful item examination, 52 items were selected, demonstrating moderate to excellent test-retest reliability for most scales and initial evidence for satisfactory construct validity. The PompeQoL questionnaire stands as a valuable screening instrument for both clinical and research purposes. Future research should prioritize additional revisions and larger validation studies, focusing on testing the questionnaire in clinical practice and trials. Nevertheless, the PompeQoL 1.0 stands out as the first standardized measure providing insights into disease-specific FDH and HRQoL among children and adolescents with various forms of PD.

Pelvic Palpatory Tests in Manual Therapy and Osteopathy: A Critical Review of the Literature and Suggestions for New Research.

Manual therapists apply physical interventions to the entire structure of the body to promote healing, prevent pathologies, and improve patient health. In osteopathic practice, palpatory evaluation is considered a fundamental clinical practice requirement for identifying somatic dysfunction. Most of the articles published in this area have failed to demonstrate a level of reproducibility that supports palpation in evidence-based clinical practice. When considering the poor reliability of the palpatory tests highlighted in the literature, a discrepancy is noted with what is known about the tactile sensitivity of human hands. For static touch, the minimum size that can be detected, in the absence of applied movement or vibration, is approximately 0.2 mm. Yet, it seems that this high level of precision is insufficient to ensure reliability in the tests used to evaluate osteopathic somatic dysfunction. The purpose that underscores this article is to determine how these two contradictory elements, high sensitivity and low reliability, can be present in palpatory tests. The article reports the literature findings regarding palpatory tests of pelvic, which is an important structure for clinical purposes. Additionally, a critical review of how these studies were conducted is provided to identify any elements that may justify the obtained results. Following recent accredited guidelines present in the literature, we propose suggestions on vision training methods, manual perception refinement training, the search for anatomical markers, and the position of the examiner in relation to the examineethat may be useful for future studies on the topic covered by the article.

Paramixta manurensis gen. nov., sp. nov., a novel member of the family Erwiniaceae producing indole-3-acetic acid isolated from mushroom compost

There are numerous species in the Erwiniaceae family that are important for agricultural and clinical purposes. Here we described the Erwiniaceae bacterium PD-1 isolated from mushroom (Pleurotus eryngii) compost. Comparative genomic and phylogenetic analyses showed that the strain PD-1 was assigned to a new genus and species, Paramixta manurensis gen. nov., sp. nov. in the family Erwiniaceae. From the average amino acid index, we identified the five AroBEKAC proteins in the shikimate pathway as a minimal set of molecular markers to reconstruct the phylogenetic tree of the Erwiniaceae species. The strain PD-1 containing annotated genes for ubiquinone and menaquinone produced a higher level of ubiquinone (Q8) than demethylmenaquinone (DMK8) and menaquinone (MK8) in anaerobic condition compared to aerobic condition, as similarly did the reference strains from the genera Mixta and Erwinia. Results from fatty acid methyl ester and numerical analyses of strain PD-1 showed a similarity to species of the genera Mixta and Winslowiella. This study revealed that the strain’s ability to utilize polyols, such as glycerol, erythritol, and d-arabitol, distinguished the strain PD-1 from the nearest relative and other type strains. The analyzed genetic markers and biochemical properties of the strain PD-1 suggest its potential role in the process of mushroom compost through the degradation of carbohydrates and polysaccharides derived from fungi and plants. Additionally, it can produce a high concentration of indole-3-acetic acid as a plant growth-promoting agent.

Clinical practices in Swedish speech-language pathology for children with (developmental) language disorder

ABSTRACT In Sweden, treatment for children with (developmental) language disorder ((D)LD) is traditionally carried out at a speech-language pathology (SLP) clinic, and based on formal language tests, which may not entirely represent the child’s everyday language and communication skills. SLP services that include video recordings have shown positive outcomes in terms of providing information about children’s linguistic and communicative abilities in everyday life, but little is known about the use of video in clinical practice. The aim of this study is therefore to investigate how Swedish SLPs link their clinical practices (assessment, treatment, and evaluation of treatment outcome) to the everyday language and communication abilities of children with (D)LD. A further aim is to explore SLPs’ utilisation of video recordings as a part of their clinical practices with the target group. A web-based questionnaire was distributed to SLPs in Sweden, who work with children with (D)LD. Results demonstrate that Swedish SLPs perceive that their intervention is in alignment with children’s everyday language and communication needs to a fairly high degree. However, an exception is assessment, which is considered to have a weaker alignment with children’s everyday communication abilities. The use of video recordings for clinical purposes is very limited. It is suggested here that incorporating video recordings from children’s everyday life would be an easy and time-efficient way to strengthen the ecological validity of SLP practices for children with (D)LD.

Viral and Non-Viral Systems to Deliver Gene Therapeutics to Clinical Targets.

Clustered regularly interspersed short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) technology has revolutionized the field of gene therapy as it has enabled precise genome editing with unprecedented accuracy and efficiency, paving the way for clinical applications to treat otherwise incurable genetic disorders. Typically, precise genome editing requires the delivery of multiple components to the target cells that, depending on the editing platform used, may include messenger RNA (mRNA), protein complexes, and DNA fragments. For clinical purposes, these have to be efficiently delivered into transplantable cells, such as primary T lymphocytes or hematopoietic stem and progenitor cells that are typically sensitive to exogenous substances. This challenge has limited the broad applicability of precise gene therapy applications to those strategies for which efficient delivery methods are available. Electroporation-based methodologies have been generally applied for gene editing applications, but procedure-associated toxicity has represented a major burden. With the advent of novel and less disruptive methodologies to deliver genetic cargo to transplantable cells, it is now possible to safely and efficiently deliver multiple components for precise genome editing, thus expanding the applicability of these strategies. In this review, we describe the different delivery systems available for genome editing components, including viral and non-viral systems, highlighting their advantages, limitations, and recent clinical applications. Recent improvements to these delivery methods to achieve cell specificity represent a critical development that may enable in vivo targeting in the future and will certainly play a pivotal role in the gene therapy field.

Penile Length and Circumference among Adult Egyptians

Abstract Background accurate measurement of penile length is important for both clinical and academic purposes. For this reason, a standard practice for measurement has been defined to maintain consistency. Rather than measuring a flaccid penis, which offers limited clinical significance, stretched penile length (SPL) measurement is considered best practice for adult men as it most closely replicates normal erect penile length. Aim of the Work to assess the stretched penile length and penile circumference in a sample of physically normal Egyptian men and to determine the penile anthropometry-somatometric parameters relationship. Patients and Methods The current study demonstrated that the mean stretched penile length of this sample of Egyptian men was 13.0 ±1.9 cm and the flaccid penile circumference was 9.3±1.1; which are consistent with the results of previous studies done in Egypt and with studies done within the same geographical region. There were significant positive correlations between penile measures and height, weight, and BMI with no significant correlations between penile measures and age. Our study results revealed as well that there was no significant difference between age grades regarding penis length and penis circumference. The previous correlations agree with most of the studies except for BMI which remains controversial whether it has positive or negative correlation with the penile anthropometry. Results revealed that alcohol use and smoking were significant factors that decrease penis length and circumference. This could be attributed to the associated erectile dysfunctions revealed in previous studies to be found in smokers and alcohol drinkers, in addition to the findings that postulate that erectile dysfunction could shorten the penile measurements. Nonetheless, further studies are needed to clarify these associations. Conclusion Concern over penile size is not uncommon. The results of this study help to establish a reference range for male genital size among adult Egyptian men, which should be helpful for andrologists in counselling patients. As evident from the current study, the mean stretched penile length of Egyptian men was 13.0 ±1.9 cm and the flaccid penile circumference was 9.3±1.1 with significant positive correlations between penile measures and height, weight, and BMI. Moreover, penile anthropometry was significantly lower in smokers and alcohol users.

Brain 3T magnetic resonance imaging in neonates: features and incidental findings from a research cohort enriched for preterm birth

Background and objectivesThe survival rate and patterns of brain injury after very preterm birth are evolving with changes in clinical practices. Additionally, incidental findings can present legal, ethical and practical...

Sexual desire and erotic fantasies questionnaire: development and validation of the sexual desire scale (SDEF1).

The evolution in conceptualization of sexual desire has stimulated many attempts to measure it. However measures able to assess multiple expressions of desire in all sexual identities are still lacking. The main aim of the present study was to test the psychometric properties of the Sexual Desire and Erotic Fantasies questionnaire - Part 1 Sexual Desire (SDEF1), developed as a sex-positive measure of different sexual desire expressions. The SDEF1 was assessed in 1773 participants from the Italian general population (1105 women, 645 men, and 23 other genders; ranged between 18-78 years old, mean age 29.31 ± 10.35) on an online survey, together with the Sexual Desire Inventory - 2, the International Index of Erectile Function, the Female Sexual Function Index, and the Marlowe-Crowne Social Desirability Scale-Short Form. Results support a factorial structure of six dimensions, including 28 items and accounting for 58.11% of the total variance: sexual desire, negative feelings to sexual desire, autoerotic desire, regular partner desire, attractive person desire, and responsive desire. The confirmatory factorial analysis showed satisfactory indexes (RMSEA = 0.042 [90% CI = 0.039-0.045]; GFI = 0.97; NFI = .96; and CFI = 0.97). Regression coefficients ranged from 0.39 to 0.94 and were all statistically significant (p < 0.001). The SDEF1 showed good psychometric properties such as internal reliability, construct, and discriminant validity, and to differentiate women and men with and without sexual difficulties. Men reported significantly higher levels of desire than women in all areas except for desire for a regular partner, were no gender difference was detected. Desire for autoerotic activity was the factor accounting for more variance explained among genders (11.7%). The SDEF1 could be a useful measure to assess different areas of sexual desire and its use could be recommended for clinical and research purposes.

A comparative study of an advanced skin imaging system in diagnosing facial pigmentary and inflammatory conditions

Visual assessment, while the primary method for pigmentation and erythema evaluation in clinical practice, is subjective, time-consuming, and may lead to variability in observations among clinicians. Objective and quantitative techniques are required for a precise evaluation of the disease's severity and the treatment's efficacy. This research examines the precision and utility of a newly developed skin imaging system in assessing pigmentation and erythema. Sixty participants were recruited, and their facial images were analyzed with the new OBSERV 520 x skin imaging system, compared to DERMACATCH for regional analysis and VISIA for full-face examination. The degree of skin pigmentation was clinically graded using the MASI scores evaluated by dermatologists. The data revealed positive correlations between the novel skin imaging system and the two conventional instruments in quantifying pigmentation and erythema, whether in regional or full-face analysis. Furthermore, the new skin imaging system positively correlated with the clinical MASI scores (r = 0.4314, P < 0.01). In contrast, our study found no significant correlation between the traditional system and clinical assessment, indicating a more substantial capacity for hyperpigmentation assessment in the new system. Our study validates the innovative skin imaging system's accuracy in evaluating pigmentation and erythema, demonstrating its feasibility for quantitative evaluation in both clinical and research purposes.

Application of a natural language processing artificial intelligence tool in psoriasis: A cross-sectional comparative study on identifying affected areas in patients’ data

Psoriasis is an immune-mediated skin disease affecting approximately 3% of the global population. Proper management of this condition necessitates the assessment of the body surface area and the involvement of nails and joints. The integration of natural language processing with electronic medical records (EMRs) has recently shown promise in advancing disease classification and research. This study evaluates the performance of ChatGPT-4, a commercial artificial intelligence platform, in analyzing unstructured EMR data of psoriasis patients, particularly in identifying affected body areas. The study analyzed EMR data from 94 patients treated at the Dermatology Department and Psoriasis Outpatient Clinic of Sheba Medical Center between 2008 and 2022. The data were processed using the ChatGPT-4 interface to identify and report the body areas affected by psoriasis. These identified areas were then categorized, and the accuracy of ChatGPT-4’s analysis was compared with that of a senior dermatologist. The results revealed that the dermatologist identified 477 psoriasis-affected body areas. ChatGPT-4 accurately recognized 443 (92.8%) of these areas, missed 34, and incorrectly identified 30 areas as affected. From 94 cases, nail involvement was detected in 32 cases (34.0%), with ChatGPT-4 correctly identifying 29 cases. Joint involvement was noted in 25 cases (26.6%), with 24 correctly identified using ChatGPT-4. Complete accuracy was achieved in 54 cases (57.4%), although inaccuracies were observed in 40 cases (42.6%). We found that cases with more characters, words, or identified body areas were more prone to errors, suggesting that increased data complexity heightens the likelihood of inaccuracies in artificial intelligence analysis. ChatGPT-4 demonstrated high performance in analyzing detailed and complex unstructured EMR data from patients with psoriasis, effectively identifying involved body areas, including nails and joints. This highlights the potential of NLP algorithms to enhance the analysis of unstructured EMR data for both clinical follow-up and research purposes.