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POGZ-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely among POGZ patients and studies investigating genotype-phenotype association are scarce. Therefore, our aim was to collect data on previously unreported POGZ patients and perform a large-scale phenotype-genotype comparison from published data. Overall, 117 POGZ patients’ genotype and phenotype data were included in the analysis, including 12 novel patients. A severity scoring system was developed for the comparison. Mild and severe phenotypes were compared with the types and location of the variants and the predicted presence or absence of nonsense-mediated RNA decay (NMD). Missense variants were more often associated with mild phenotypes (p = 0.0421) and truncating variants predicted to escape NMD presented with more severe phenotypes (p < 0.0001). Within this group, variants in the prolin-rich region of the POGZ protein were associated with the most severe phenotypes (p = 0.0004). Our study suggests that gain-of-function or dominant negative effect through escaping NMD and the location of the variants in the prolin-rich domain of the protein may play an important role in the severity of manifestations of POGZ–associated neurodevelopmental disorders.

Limited diagnostic service availability challenges the timely diagnosis and treatment of tuberculous lymphadenitis, the most common extrapulmonary tuberculosis in endemic areas. To address this, our study aimed to develop a clinical scoring rule for estimating the likelihood of tuberculous lymphadenitis, designed as a simple and easy-to-apply classification tool to facilitate timely diagnosis. We used a cross-sectional study to collect data from 1364 patients with lymphadenopathy. A prediction model was developed by incorporating predictors from multivariable logistic regression analysis. Optimal cutoff point was determined using Youden’s Index. Performance was evaluated using discrimination and calibration. Internal validation and clinical utility were assessed using bootstrapping and decision curve analysis, respectively. A total of 790 patients (57.9%, 95% CI 55.3%–60.5%) were diagnosed with tuberculous lymphadenitis. Sex, duration, size, location, and consistency of lymphadenopathy, presence of pain, sinus tract, systemic symptoms, and erythrocyte sedimentation rate were predictors incorporated to develop the scoring rule. With a discrimination power of 96.9% (95% CI 96.1%, 97.8%), the clinical scoring rule using these predictors showed a sensitivity, specificity, and accuracy of 93.7%, 89.7%, and 92%, respectively. It demonstrated internal validity with near-zero optimism coefficients for various performance metrics. Using easily accessible clinical parameters, we developed a scoring rule that reliably predicts tuberculous lymphadenitis. Besides its use in clinical settings for making timely clinical decisions, the scoring rule is a valuable candidate for community-level screening, facilitating early case detection.

BackgroundRecently, a patient with maternal uniparental disomy of chromosome 16 (UPD(16)mat) presenting with Silver-Russell syndrome (SRS) phenotype was reported. SRS is characterised by growth failure and dysmorphic features.ObjectiveTo clarify the prevalence of UPD(16)mat in aetiology-unknown patients with SRS phenotype and phenotypic differences between UPD(16)mat and SRS.MethodsWe studied 94 patients with SRS phenotype of unknown aetiology. Sixty-three satisfied the Netchine-Harbison clinical scoring system (NH-CSS) criteria, and 25 out of 63 patients showed both protruding forehead and relative macrocephaly (clinical SRS). The remaining 31 patients met only three NH-CSS criteria, but were clinically suspected as having SRS. To detect UPD(16)mat, we performed methylation analysis for the ZNF597:TSS-differentially methylated region (DMR) on chromosome 16 and subsequently performed microsatellite, SNP array and exome analyses in the patients with hypomethylated ZNF597:TSS-DMR.ResultsWe identified two patients (2.1%) with a mixture of maternal isodisomy and heterodisomy of chromosome 16 in 94 aetiology-unknown patients with SRS phenotype. Both patients exhibited preterm birth and prenatal and postnatal growth failure. The male patient had ventricular septal defect and hypospadias. Whole-exome sequencing detected no gene mutations related to their phenotypes.ConclusionWe suggest considering genetic testing for UPD(16)mat in SRS phenotypic patients without known aetiology.

Introduction Acute appendicitis (AA) is the most common surgical emergency in pediatric patients, yet its diagnosis remains challenging due to variable clinical presentations and the overlap with other causes of abdominal pain. Predictive scores can enhance diagnostic accuracy, reduce unnecessary surgeries, and optimize resource utilization, especially in resource-limited settings. This study aimed to identify key predictive factors for acute appendicitis in children and to develop a combined clinical and biological scoring system to enhance diagnostic accuracy for this condition. Patients and methods We prospectively enrolled children aged 2 to 14 years presenting with abdominal pain to the pediatric surgery department at Fattouma Bourguiba University Hospital over a one-year period. Clinical, biological, and sonographic data were analyzed to identify key predictive factors and derive a predictive scoring model for acute appendicitis in this population. Model performance was assessed using the area under the curve (AUC) on the same dataset used for model derivation. Results Among 420 children presenting with abdominal pain, 91 (21.7%) were diagnosed with AA. The median age of the children was 7 years, with a male-to-female ratio of 1.48. Binary logistic regression identified the following predictive factors: right iliac fossa tenderness, right iliac fossa guarding, positive right single-leg hop, and neutrophil percentage ≥ 75%. The predictive model achieved an AUC of 0.901 (95% CI [0.85–0.93]) with a significance of P < 0.0001. The optimal cut-off for the model was 5, yielding a sensitivity of 61.04%, specificity of 95.38%, positive predictive value (PPV) of 76.4%, and negative predictive value (NPV) of 90.5%. Stratified management strategies based on the score were proposed to guide clinical decision-making effectively. Conclusion The developed predictive score offers a simple, practical, and highly specific tool for diagnosing AA in pediatric emergencies. Its integration of functional signs, such as the right-sided single-leg hop test, enhances clinical utility, making it particularly valuable in resource-constrained settings. Further validations are warranted to confirm its generalizability and reliability. Clinical trial number Not applicable. Level of evidence II

Aim Validation of the recently published newer clinical scoring system for bladder pain syndrome/interstitial cystitis and comparison of the results with the pre-existing standard O’Leary–Sant score. Introduction The symptoms are our primary guide to disease severity analysis, treatment, and response monitoring. The combined ICSI/ICPI (O’Leary–Sant Interstitial Cystitis Symptom and Problem Index) consist of a four-item symptom and problem index focusing on urgency, frequency, nocturia, and pain. A new scale, assigning more weight to pain and nocturia and adding the domains of sexual dysfunction and psychological impact, has been published by one of the authors (El Khoudary et al. J Women's Health 2002. 18:1361-1368; 7 ). Material and methods This is a prospective study conducted to validate a newer clinical scoring system, namedht e ‘Apollo Clinical Scoring’ (ACS) system for patients with bladder pain syndrome/ interstitial cystitis (BPS/IC), and to compare its outcome with the simultaneously applied standard O’Leary–Sant (OLS) score. Thirty-five patients of BPS/IC diagnosed using the ESSIC definition were enrolled in the study and followed for 6 months. Intraclass correlation coefficient (ICC) for test–retest reliability, and Cronbach’s α for measure of internal consistency, were applied to both scoring systems. Results Intraclass correlation coefficient for ACS was 0.715 and for OLS was 0.689. Cronbach’s α for ACS was 0.736 and for OLS was 0.698. Conclusion The present study suggests that the recently devised Apollo Clinical Scoring (ACS) system for patients of BPS/IC is internally consistent and a reliable scoring system. When compared with OLS in parallel setting, the newer ACS appeared to be marginally better.

The coronavirus disease 2019 (COVID-19) pandemic has led to the development of numerous prognostic models for patient assessment. However, the potential utility of the predisposition, insult/infection, response, organ dysfunction (PIRO) score in evaluating COVID-19 severity and outcomes remains unexplored, presenting a gap in current research. A retrospective analysis was conducted on a cohort of 374 individuals diagnosed with COVID-19 who were admitted to the emergency department of Beijing Youan Hospital. Demographic data, treatment regimens, and seven prognostic scoring systems, including PIRO, were evaluated. To evaluate the models’ prognostic accuracy for 28-day mortality, area under the receiver operating characteristic (AUROC) analysis was employed. Comparative performance between scoring systems was quantified using the DeLong method for paired ROC curves. Of the 374 patients meeting inclusion criteria, 120 (32.1%) died within 28 day of hospitalization. Significant disparities were observed between survivors and non-survivors regarding age, laboratory parameters, and clinical scores. Analysis of patient distribution and mortality rates across different score ranges revealed a positive correlation between score magnitude and 28-day mortality. The PIRO score demonstrated superior prognostic capability, yielding an AUC of 0.898 (95% CI 0.866–0.929). The quick sequential organ failure assessment (qSOFA) score followed closely (AUC 0.882, 95% CI 0.849–0.914). Both critical illness risk score (COVID-GRAM) and national early warning score 2 (NEWS2) exhibited AUCs exceeding 0.85 (COVID-GRAM 0.854, 95% CI 0.812–0.895; NEWS2: 0.851, 95% CI 0.813–0.889). DeLong test analysis revealed statistically significant differences in AUC between PIRO and confusion, urea, respiration, systolic pressure, age ≥ 65 (CURB-65), pneumonia severity index (PSI), COVID-GRAM, rapid acute physiology score (RAPS), and NEWS2 (all p  < 0.05). Analysis revealed the PIRO scoring system as a robust predictor of 28-day mortality among COVID-19 cases presenting to the emergency setting, offering potential refinement of risk stratification and clinical management strategies.

Background The Full Outline of UnResponsivness (FOUR) score is a neurological assessment score. Its theoretical benefit over preexisting scores is its evaluation of brainstem reflexes and respiratory pattern which may allow better assessment of patients with severe neurologic impairment. Objective Our goal was to perform a scoping systematic review on the available literature for FOUR score and outcome prediction in critically ill patients. The primary outcome of interest was patient global outcome, as assessed by any of: mortality, modified Rankin Score, Glasgow Outcome Score, or any other functional or neuropsychiatric outcome. Information on interobserver reliability was also extracted. Methods MEDLINE and five other databases were searched. Inclusion criteria were: humans, adults, and children; prospective randomized controlled trial; prospective cohort, cohort/control, case series, prospective, and retrospective studies. Two reviewers independently screened the results. Full texts for citations passing this initial screen were obtained. Inclusion and exclusion criteria were applied to each article to obtain final articles for review. Results on adult populations are presented here. Data are reported following the preferred reporting items for systematic reviews and meta-analyses guidelines. Results The initial search yielded 1709 citations. Of those used, 49 were based on adult and 6 on pediatric populations. All but 8 retrospective adult studies were performed prospectively. Patient categories included traumatic brain injury, intraventricular hemorrhage, intracerebral hemorrhage, subarachnoid hemorrhage, ischemic stroke, general/combined neurology and neurosurgery, post-cardiac arrest, medicine/general critical illness, and patients in the emergency department. A total of 9092 adult patients were studied. Fourteen studies demonstrated good interobserver reliability of the FOUR score. Nine studies demonstrated prognostic value of the FOUR score in predicting mortality and functional outcomes. Thirty-two studies demonstrated equivalency or superiority of the FOUR score compared to Glasgow Coma Score in prediction of mortality and functional outcomes. Conclusions The FOUR score has been shown to be a useful outcome predictor in many patients with depressed level of consciousness. It displays good inter-rater reliability among physicians and nurses.

Background In the collagen-induced arthritis (CIA) mouse model, inflammation readouts are usually quantified using operator-dependent clinical scoring systems, and no systematic relationship with functional deficits has been detected. In this study, we extensively quantified sensory and motor deficits in CIA mice during natural disease progression and therapeutic treatment. Then, we used these data to build a scale to predict functional deficits on the basis of the classical clinical score. Methods Using the CIA mouse model, we longitudinally screened multiple approaches to assess locomotion (open field test, Catwalk™), sensitivity (Von Frey, Hargreaves, static weight-bearing tests), and inflammation (skin temperature), and identified the most accurate tests to correlate sensory and motor deficits with disease severity, measured by clinical score. We then used these tests to characterize functional deficits in control (naïve and mice injected with complete Freund’s adjuvant) and CIA mice, either untreated or treated with methotrexate to prevent functional deficits. By mathematical approaches, we finally investigated the relationship between functional deficits and clinical score. Results We found that the functional disability scores obtained with the open field, Catwalk™, Hargreaves, and skin temperature tests significantly correlated with the clinical score in CIA mice, either untreated or treated with methotrexate. Mathematical correlation showed that motor deficits, robustly characterized by two different tests, were twice more responsive than thermal sensitivity deficits. Conclusion We propose the arthritis sensory and motor (ArthriSM) scale as a new theranostic tool to predict motor and sensory deficit based on the clinical score, in the experimental mouse model of CIA. This ArthriSM scale may facilitate the transfer of knowledge between preclinical and clinical studies.

The receiver operator characteristic (ROC) curve (Fig. 1b) and the precision-recall (PR) curve (Fig. 1c), showing precision (positive predictive value (PPV)) against recall (sensitivity), both indicate moderate-to-poor discriminative performance. Refitting the E-PRE-DELIRIC logistic regression model to our data hardly improved discrimination: AUROC was 0.648 (95% CI 0.622–0.673) and AUPRC was 0.566. SEE PDF] The calibration plot, of predicted risk against observed delirium rate, shows the risk of delirium is considerably underestimated, especially in patients with predicted risk of delirium less than 0.5 (Fig. 1d).

Appendicitis represents a prevalent surgical emergency globally, posing a significant risk of severe complications. These complications encompass a spectrum of conditions, including ileus, peritonitis, abscess formation, and, in extreme cases, mortality. The present study aims to assess the association of existing risk scores for the diagnosis of acute appendicitis and patient characteristics with the diagnosis of acute appendicitis, the odds of operative vs non-operative management, and postoperative outcomes. In total, 109 patients assessed for acute appendicitis were included in this study. Sex ( = 0.99, OR = 1.01, 95% CI: 0.87-1.17) and age ( = 0.23, OR = 1.01, 95% CI: 0.98-1.04) were not found to be significantly associated with the diagnosis of appendicitis. Patients with radiating pain were significantly less likely to be diagnosed with appendicitis compared to those with localized pain ( = 4.05 × 10 , RR = 0.0918, 95% CI: 0.039-0.217). The duration of symptoms did not significantly influence the diagnosis ( = 0.12, RR = 1.04, 95% CI: 0.98-1.11). Increased ALVARADO scores were significantly associated with operative treatment, with patients receiving an appendicectomy having a mean score of 7.56 (SD 1.91) and patients undergoing conservative management having a mean score of 4.92 (SD 1.56) ( -value < 0.001). The results of this study highlight the importance of clinical presentation, physical examination findings, and specific laboratory markers in the diagnosis of appendicitis. While demographic factors and certain biomarkers did not show significant associations, the combination of clinical and laboratory data can aid in accurate diagnosis and timely intervention.