Comparative analysis of prognostic scoring systems in predicting severity and outcomes of Omicron variant COVID-19 pneumonia.

Background: The global spread of Coronavirus Disease 2019 (COVID-19) underscores the urgent need for reliable methods to forecast the disease's severity and outcome, thereby facilitating timely interventions and reducing mortality rates. This study focuses on evaluating the clinical and laboratory profiles of patients with Omicron variant-induced COVID-19 pneumonia and assessing the efficacy of various scoring systems in prognosticating disease severity and mortality. Methods: In this retrospective analysis, we examined the clinical records of 409 individuals diagnosed with Omicron variant COVID-19 pneumonia. We documented the Pneumonia Severity Index, CURB-65, and MuLBSTA scores within the first 24 h and analyzed the sensitivity, specificity, positive predictive value, negative predictive value, and the area under the receiver operating characteristic curve for each scoring system to ascertain their predictive accuracy for disease severity and fatality risk. Results: The cohort's median age was 78 years, predominantly presenting with fever, cough, expectoration, fatigue, and gastrointestinal symptoms. Factors such as expectoration, fatigue, Glasgow Coma Scale score, lactate dehydrogenase levels, procalcitonin, creatinine levels, and co-occurrence of acute respiratory distress syndrome were identified as independent predictors of disease severity. Furthermore, age, oxygenation index, glucose levels, lactate dehydrogenase, and septic shock were independently associated with mortality. For severe disease prediction, the CURB-65, PSI, and MuLBSTA scores demonstrated sensitivities of 65.9%, 63.8%, and 79.7%, respectively, with specificities of 63.8%, 76.8%, and 60.9%, and AUROCs of 0.707, 0.750, and 0.728. To predict mortality risk, these scores at cutoffs of 1.5, 102.5, and 12.5 exhibited sensitivities of 83.3%, 96.3%, and 70.4%, specificities of 59.4%, 60.8%, and 65.4%, and AUROCs of 0.787, 0.850, and 0.736, respectively. Conclusion: The study cohort predominantly comprised elderly individuals with pre-existing health conditions. Elevated lactate dehydrogenase emerged as a significant marker for both disease severity and prognosis, sputum production, gastrointestinal symptoms, GCS score, creatinine, PCT, and ARDS as independent predictors of disease severity, and age, oxygenation index, glucose levels, and septic shock as independent mortality predictors in COVID-19 pneumonia patients. Among the scoring systems evaluated, Pneumonia Severity Index demonstrated superior predictive capability for both disease severity and mortality, suggesting its utility in forecasting the clinical outcomes of Omicron variant COVID-19 pneumonia.

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.

PURPOSE: To investigate the number of rare missense variants observed in human genome sequences by ACMG/AMP PP3/BP4 evidence strength, following the ClinGen-calibrated PP3/BP4 computational recommendations. METHODS: Missense variants from the genome sequences of 300 probands from the Rare Genomes Project with suspected rare disease were analyzed using computational prediction tools that were able to reach PP3_Strong and BP4_Moderate evidence strengths (BayesDel, MutPred2, REVEL, and VEST4). The numbers of variants at each evidence strength were analyzed across disease-associated genes and genome-wide. RESULTS: From a median of 75.5 rare (≤1% allele frequency) missense variants in disease-associated genes per proband, a median of one reached PP3_Strong, 3-5 PP3_Moderate, and 3-5 PP3_Supporting. Most were allocated BP4 evidence (median 41-49 per proband) or were indeterminate (median 17.5-19 per proband). Extending the analysis to all protein-coding genes genome-wide, the number of variants reaching PP3_Strong score thresholds increased approximately 2.6-fold compared with disease-associated genes, with a median per proband of 1-3 PP3_Strong, 8-16 PP3_Moderate, and 10-17 PP3_Supporting. CONCLUSION: A small number of variants per proband reached PP3_Strong and PP3_Moderate in 3424 disease-associated genes. Although not the intended use of the recommendations, this was also observed genome-wide. Use of PP3/BP4 evidence as recommended from calibrated computational prediction tools in the clinical diagnostic laboratory is unlikely to inappropriately contribute to the classification of an excessive number of variants as pathogenic or likely pathogenic by ACMG/AMP rules.

Is It Possible to Predict Tumor Progression Through Genomic Characterization of Monoclonal Gammopathy and Smoldering Multiple Myeloma?

The study of monoclonal serum proteins has led to the generation of two major theories: one proposing that individuals who had monoclonal proteins without any symptoms or evidence of end-organ damage have a benign condition, the other one suggesting that some individuals with asymptomatic monoclonal proteins may progress to multiple myeloma and thus are affected by a monoclonal gammopathy of undetermined significance (MGUS). Longitudinal studies of subjects with MGUS have supported the second theory. Subsequent studies have characterized and defined the existence of another precursor of multiple myeloma, smoldering multiple myeloma (SMM), intermediate between MGUS and multiple myeloma. Primary molecular events, chromosome translocations, and chromosome number alterations resulting in hyperploidy, required for multiple myeloma development, are already observed in myeloma precursors. MGUS and SMM are heterogeneous conditions with the presence of tumors with distinct pathogenic phenotypes and clinical outcomes. The identification of MGUS and SMM patients with a molecularly defined high risk of progression to MM offers the unique opportunity of early intervention with a therapeutic approach on a low tumor burden.

Development and external validation of tools for categorizing diagnosis codes in international hospital data.

BACKGROUND: The Clinical Classification Software Refined (CCSR) is a tool that groups many thousands of International Classification of Diseases 10th Revision (ICD-10) diagnosis codes into approximately 500 clinically meaningful categories, simplifying analyses. However, CCSR was developed for use in the United States and may not work well with other country-specific ICD-10 coding systems. METHOD: We developed an algorithm for semi-automated matching of Canadian ICD-10 codes (ICD-10-CA) to CCSR categories using discharge diagnoses from adult admissions at 7 hospitals between Apr 1, 2010 and Dec 31, 2020, and manually validated the results. We then externally validated our approach using inpatient hospital encounters in Denmark from 2017 to 2018. KEY RESULTS: There were 383,972 Canadian hospital admissions with 5,186 distinct ICD-10-CA diagnosis codes and 1,855,837 Danish encounters with 4,612 ICD-10 diagnosis codes. Only 46.6% of Canadian codes and 49.4% of Danish codes could be directly categorized using the official CCSR tool. Our algorithm facilitated the mapping of 98.5% of all Canadian codes and 97.7% of Danish codes. Validation of our algorithm by clinicians demonstrated excellent accuracy (97.1% and 97.0% in Canadian and Danish data, respectively). Without our algorithm, many common conditions did not match directly to a CCSR category, such as 96.6% of hospital admissions for heart failure. CONCLUSION: The GEMINI CCSR matching algorithm (available as an open-source package at https://github.com/GEMINI-Medicine/gemini-ccsr) improves the categorization of Canadian and Danish ICD-10 codes into clinically coherent categories compared to the original CCSR tool. We expect this approach to generalize well to other countries and enable a wide range of research and quality measurement applications.

Applicability and Suitability of the Embryological-Clinical Classification of Female Genital Malformations: A Systematic Review.

Complex urogenital malformations are clinically highly relevant; thus, they must be appropriately diagnosed and classified before initiating treatment. Background/Objectives: This study aimed to evaluate the applicability and suitability of the embryological-clinical classification of female genital malformations. Methods: A systematic review of cases of genital malformations reported in the literature from 2000 to 2020 was conducted. Case reports and series with the following combinations: "female genital tract" AND (malformation OR anomaly OR müllerian anomaly OR uterine anomaly OR cervical anomaly OR vaginal anomaly OR cloacal anomaly OR urogenital sinus); and "female genital tract" AND (renal agenesis OR ectopic ureter) were searched. A total of 3124 articles were identified, of which 824 cases of genital malformation were extracted. The characteristics of each malformation were included in a database for further analyses. Results: Using the embryological-clinical classification, 89.9% of the published cases and 86.5% of the 52 cases defined as unclassifiable by their authors have been classified in this review. In 73 cases (72.2%), the classification of the malformation using the AFS system was incomplete because although the type of uterine anomaly of the AFS classification matched that of the embryological-clinical classification, characteristics of the urinary system or the vagina were overlooked when using the AFS system. Following a dispersion matrix, we have been able to show that the embryological-clinical classification system is able to classify and subclassify the genitourinary malformations more accurately. Conclusions: The applicability of the embryological-clinical classification has been confirmed after classifying most of the cases of genital malformation previously published. This system also provides a more complete and accurate classification than other classifying systems exclusively based on Müllerian duct development or uterovaginal parameters, demonstrating its suitability.

Peripheral nerve injury associated with JEV infection in high endemic regions, 2016-2020: a multicenter retrospective study in China.

Previously, we reported a cohort of Japanese encephalitis (JE) patients with Guillain-Barré syndrome. However, the evidence linking Japanese encephalitis virus (JEV) infection and peripheral nerve injury (PNI) remains limited, especially the epidemiology, clinical presentation, diagnosis, treatment, and outcome significantly differ from traditional JE. We performed a retrospective and multicenter study of 1626 patients with JE recorded in the surveillance system of the Chinese Center for Disease Control and Prevention, spanning the years 2016-2020. Cases were classified into type 1 and type 2 JE based on whether the JE was combined with PNI or not. A comparative analysis was conducted on demographic characteristics, clinical manifestations, imaging findings, electromyography data, laboratory results, and treatment outcomes. Among 1626 laboratory confirmed JE patients, 230 (14%) were type 2 mainly located along the Yellow River in northwest China. In addition to fever, headache, and disturbance of consciousness, type 2 patients experienced acute flaccid paralysis of the limbs, as well as severe respiratory muscle paralysis. These patients presented a greater mean length of stay in hospital (children, 22 years [range, 1-34]; adults, 25 years [range, 0-183]) and intensive care unit (children, 16 years [range, 1-30]; adults, 17 years [range, 0-102]). The mortality rate was higher in type 2 patients (36/230 [16%]) compared to type 1 (67/1396 [5%]). The clinical classification of the diagnosis of JE may play a crucial role in developing a rational treatment strategy, thereby mitigating the severity of the disease and potentially reducing disability and mortality rates among patients.

Assessment of Spinal and Pelvic Kinematics Using Inertial Measurement Units in Clinical Subgroups of Persistent Non-Specific Low Back Pain.

Inertial measurement units (IMUs) offer a portable and quantitative solution for clinical movement analysis. However, their application in non-specific low back pain (NSLBP) remains underexplored. This study compared the spine and pelvis kinematics obtained from IMUs between individuals with and without NSLBP and across clinical subgroups of NSLBP. A total of 81 participants with NSLBP with flexion (FP; n = 38) and extension (EP; n = 43) motor control impairment and 26 controls (No-NSLBP) completed 10 repetitions of spine movements (flexion, extension, lateral flexion). IMUs were placed on the sacrum, fourth and second lumbar vertebrae, and seventh cervical vertebra to measure inclination at the pelvis, lower (LLx) and upper (ULx) lumbar spine, and lower cervical spine (LCx), respectively. At each location, the range of movement (ROM) was quantified as the range of IMU orientation in the primary plane of movement. The ROM was compared between NSLBP and No-NSLBP using unpaired t-tests and across FP-NSLBP, EP-NSLBP, and No-NSLBP subgroups using one-way ANOVA. Individuals with NSLBP exhibited a smaller ROM at the ULx (p = 0.005), LLx (p = 0.003) and LCx (p = 0.01) during forward flexion, smaller ROM at the LLx during extension (p = 0.03), and a smaller ROM at the pelvis during lateral flexion (p = 0.003). Those in the EP-NSLBP group had smaller ROM than those in the No-NSLBP group at LLx during forward flexion (Bonferroni-corrected p = 0.005), extension (p = 0.013), and lateral flexion (p = 0.038), and a smaller ROM at the pelvis during lateral flexion (p = 0.005). Those in the FP-NSLBP subgroup had smaller ROM than those in the No-NSLBP group at the ULx during forward flexion (p = 0.024). IMUs detected variations in kinematics at the trunk, lumbar spine, and pelvis among individuals with and without NSLBP and across clinical NSLBP subgroups during flexion, extension, and lateral flexion. These findings consistently point to reduced ROM in NSLBP. The identified subgroup differences highlight the potential of IMU for assessing spinal and pelvic kinematics in these clinically verified subgroups of NSLBP.

Trauma plays an important role in acral melanoma: A retrospective study of 303 patients.

INTRODUCTION: Acral melanoma (AM) is the most common subtype of malignant melanoma in China, with a very poor prognosis. Despite the frequent reporting of trauma events in AM cases, the precise etiology of AM remains elusive. METHODS: A retrospective analysis was conducted on a cohort of 303 AM patients at Nanjing Drum Tower Hospital. The patients were categorized into four distinct groups based on different patterns of disease onset: trauma type (Type 1), pigmented nevus type (Type 2), pigmented nevi with trauma (Type 3), and pigmented nevi with natural ulceration (Type 4). Differences in clinicopathological features, genetic alterations, and tumor immune microenvironment (TIME) were analyzed. RESULTS: Traumatic events accounted for a large proportion of AM cases. Among these categories, Type 1 patients displayed the least favorable pathological traits and an immunosuppressive TIME. Common copy number variations (CNVs) were observed in CCND1, RB1, FGF19, and IL7R, while CNVs in CDK4 and TERT occurred less frequently in patients with a history of trauma (Type 1 and Type 3). Type 2 patients exhibited the most favorable pathological characteristics and genetic profiles, and demonstrated the lowest incidence of CCDN1 and RB1 CNVs but had the highest CDK4 CNVs. In contrast, the pathological behavior of Type 3 and Type 4 patients was in between Type 1 and Type 2. And patients in Type 3 and Type 4 displayed a more favorable overall microenvironment. CONCLUSION: This study provides a clinical classification of Chinese AM based on diverse clinical onset characteristics and highlights the important role of trauma in AM. These findings may help to guide the diagnosis, treatment, and prognosis of AM patients. Further investigations are imperative to elucidate the underlying mechanisms governing the association between trauma and AM.

Clinical classification of liver cirrhosis - a way to plan individual definitive treatment.

OBJECTIVE: Aim: To develop clinical classification of liver cirrhosis, which can aid individualization and planning definitive treatment for this group of patients. PATIENTS AND METHODS: Materials and Methods: Computerized search of the literature was performed via PubMed using the following medical subject headings or keywords: "liver", "cirrhosis" and "classification"; or "liver", "cirrhosis" and "complications"; or "liver", "cirrhosis" and "treatment"; or "portal" ", "hypertension" and "complications". Articles were independently evaluated by each author, the etiological, morphological and current clinical classifications of LC were analyzed, their advantages and disadvantages identified, and after discussion classification of LC was developed by consensus. CONCLUSION: Conclusions: The developed clinical classification of liver cirrhosis will facilitate the planning of therapeutic tactics for each patient, allow to personalize the treatment of patients with this pathology.

Mismatch between clinically defined classification of ALS stage and the burden of cerebral pathology.

This study aimed to investigate the clinical stratification of amyotrophic lateral sclerosis (ALS) patients in relation to in vivo cerebral degeneration. One hundred forty-nine ALS patients and one hundred forty-four healthy controls (HCs) were recruited from the Canadian ALS Neuroimaging Consortium (CALSNIC). Texture analysis was performed on T1-weighted scans to extract the texture feature "autocorrelation" (autoc), an imaging biomarker of cerebral degeneration. Patients were stratified at baseline into early and advanced disease stages based on criteria adapted from ALS clinical trials and the King's College staging system, as well as into slow and fast progressors (disease progression rates, DPR). Patients had increased autoc in the internal capsule. These changes extended beyond the internal capsule in early-stage patients (clinical trial-based criteria), fast progressors, and in advanced-stage patients (King's staging criteria). Longitudinal increases in autoc were observed in the postcentral gyrus, corticospinal tract, posterior cingulate cortex, and putamen; whereas decreases were observed in corpus callosum, caudate, central opercular cortex, and frontotemporal areas. Both longitudinal increases and decreases of autoc were observed in non-overlapping regions within insula and precentral gyrus. Within-criteria comparisons of autoc revealed more pronounced changes at baseline and longitudinally in early- (clinical trial-based criteria) and advanced-stage (King's staging criteria) patients and fast progressors. In summary, comparative patterns of baseline and longitudinal progression in cerebral degeneration are dependent on sub-group selection criteria, with clinical trial-based stratification insufficiently characterizing disease stage based on pathological cerebral burden.

Dyslipidemia and hyperuricemia: a cross-sectional study of residents in Wuhu, China.

BACKGROUND: While dyslipidemia has been recognized as a potential risk factor for hyperuricemia, there is currently a dearth of large-scale data specifically focused on studying the relationship between these two conditions. To address this gap, the present study analyzed a dataset of 298,891 physical examination records to investigate in greater detail the clinical classification and compositional relationship between hyperuricemia and dyslipidemia. METHODS: For this investigation, a cross-sectional research design was utilized to analyze physical examination data that was gathered from Yijishan Hospital in Wuhu, China between 2011 and 2016. Logistic regression was employed to examine the association between hyperuricemia and dyslipidemia. Furthermore, the association between hyperuricemia and dyslipidemia was evaluated based on the clinical classifications of dyslipidemia and its components. RESULTS: A total of 298,891 participants from China (124,886 [41.8%] females) were included in the study, with an age range of 18 to 90 years (mean [SD]: 47.76 [13.54] years). In multivariate analysis, the odds of hyperuricemia was 1.878 times higher in patients with dyslipidemia compared to those without dyslipidemia (95% confidence interval [CI]: 1.835-1.922). In the clinical classification of dyslipidemia, individuals with hypertriglyceridemia and mixed hyperlipidemia had 1.753 times (95% CI: 1.706-1.802) and 1.925 times (95% CI: 1.870-1.982) higher odds of hyperuricemia, respectively, compared to those without dyslipidemia. Among the components of dyslipidemia, the odds ratios for hyperuricemia in individuals in the fourth quartile compared to those in the first quartile were 3.744 (95% CI: 3.636-3.918) for triglycerides, 1.518 (95% CI: 1.471-1.565) for total cholesterol, and 1.775 (95% CI: 1.718 - 1.833) for non-high-density lipoprotein cholesterol. CONCLUSIONS: Dyslipidemia has been independently linked with hyperuricemia. Moreover, the elevation of triglycerides or total cholesterol levels, including conditions such as hypertriglyceridemia and mixed hyperlipidemia, have been observed to have a positive association with the development of hyperuricemia.

Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.

PURPOSE: To investigate the clinical and genetic characteristics for a large cohort of Chinese patients with Bietti crystalline retinopathy (BCR). METHODS: A total of 208 Chinese BCR patients from 175 families were recruited. Comprehensive clinical evaluations and genetic analysis were performed. Genotype-phenotype correlations were evaluated through statistical analysis. RESULTS: The patients' median age was 37 years (range, 20-76 years). The median best corrected visual acuity (BCVA) was 0.8 LogMAR unit (range, 2.8 to -0.12). A significant decline of BCVA was revealed in patients over 40 years old (P<0.001). Two clinical types were observed: peripheral type (type P) and central type (type C). Significantly more type C patients had a worse central visual acuity, but a more preserved retinal function (P<0.05). Molecular screening detected biallelic CYP4V2 pathogenic variants in 98.3% (172/175) of the families, including 19 novel ones. The most frequent pathogenic variant was c.802-8_810del17insGC, with the allele frequency of 55.7% (195/350), followed by c.992A>C (28/350, 8%) and c.1091-2A>G (23/350, 6.6%). BCR patients with one c.802-8_810del17insGC and one truncating variant (IVS6-8/Tru) had BCVA>1.3 LogMAR unit (Snellen equivalent<20/400) at a younger age than those with homozygous c.802-8_810del17insGC variants (homo IVS6-8) (P=0.031). CONCLUSIONS: BCR patients preserved relatively good vision before 40 years old. Two distinct clinical types of BCR were observed. BCR patients with IVS6-8/Tru had an earlier decline in visual acuity than those with homo IVS6-8. Our findings enhance the knowledge of BCR and will be helpful in patient selection for gene therapy.

Use of clinical classifications software to address ICD coding transition in large healthcare databases analyzed via high-dimensional propensity scores.

PURPOSE: The EUPAS26595 study characterized the rate of acute renal failure (ARF) in patients exposed to levetiracetam versus other antiepileptic drugs using healthcare claims data and a high-dimensional propensity score (hd-PS) for confounding adjustment. The data contained several coding systems by design and an update in International Classification of Diseases (ICD) coding dictionary. Such coding heterogeneity can affect the performance of hd-PS, and manually coding harmonization is not feasible. Our objective was to explore the impact of code aggregation via Clinical Classifications Software (CCS) on the analysis of a large claims-based database using hd-PS. METHODS: Patients with epilepsy, who were new-users of an antiepileptic drug, were identified from the IBM® MarketScan® Research Databases. We used CCS categories to harmonize coding and compared the results with other alternatives. Incidence rate ratios (IRRs) were computed using modified Poisson regression model with a robust variance estimator. RESULTS: For January 2008-October 2015 (before ICD update), 34 833 eligible patients initiated levetiracetam and 52 649 initiated a comparator drug; IRR (95% CI) for ARF for the hd-PS analysis was 1.34 (0.72-2.50) without CCS categories and 1.30 (0.71-2.39) with CCS categories. For January 2008-December 2017 (including ICD coding change), 45 672 eligible patients initiated levetiracetam and 64 664 initiated a comparator drug; IRR (95% CI) for the hd-PS analysis was 1.34 (0.78-2.29) without CCS categories and 1.37 (0.80-2.34) with CCS categories. CONCLUSIONS: Using single-level CCS categories to overcome differences in coding provides consistent results and can be used in studies that use large claims data and hd-PS for adjustment.

Clinical heterogeneity and cluster analysis of multiple system atrophy / 中华老年医学杂志

Objective:To examine the clinical subtypes of patients with multisystem atrophy(MSA)that may indicate the prognosis of patients.Additionally, we aim to compare the ability to perform daily activities among patients of each subtype using cluster analysis.Methods:The retrospective analysis included demographic data, clinical symptoms and signs, scale scores, and ancillary examinations of 94 patients diagnosed with multisystem atrophy at Xuanwu Hospital of Capital Medical University.The study aimed to analyze the clinical characteristics of each subtype obtained through clustering.Additionally, a comparison was made between patients with traditional motor subtypes and those with new subtypes in terms of activities of daily living.The study consisted of 94 MSA patients, with an average age of 61 years and a female representation of 51.1%.Using the data collected on the continuum, a full linkage hierarchical cluster analysis was performed to classify MSA patients into four clinical subtypes: gait disorder(17 cases, 18.1%), malignant tonic hyperkinetic with premature haircut(25 cases, 26.6%), intermediate(43 cases, 45.7%), and autonomic benign type(9 cases, 9.6%).Each subtype exhibited various clinical motor and non-motor symptoms, including UPDRS-Ⅲ( χ2=27.90, P<0.001), gait disturbance( χ2=33.23, P<0.001), MoCA( χ2=10.98, P=0.012), HAMA( χ2=12.14, P=0.007), HAMD( χ2=13.62, P=0.003), smell score( χ2=10.16, P=0.017), postural hypotension( χ2=14.59, P=0.028), and a statistically significant difference in the ability to perform daily living score( χ2=25.35, P<0.001).No statistically significant differences in non-motor symptoms and activities of daily living abilities were observed between the cerebellar and Parkinsonian types of traditional motor typing( P>0.05). Conclusions:The hierarchical clustering analysis conducted in this study reveals that the clinical phenotype of MSA provides a more accurate reflection of patients' clinical characteristics and their impact on quality of life compared to the traditional motor phenotype.Additionally, it may help predict variations in the underlying pathological impairment and the rate of disease progression.These findings offer a foundation for precise diagnostic interventions in patients with MSA.

Pulmonary artery dilatation in different causes of pulmonary hypertension.

Pulmonary artery (PA) dilatation is commonly observed in patients with pulmonary hypertension (PH). However, the clinical aspects of PA dilatation in various etiology of PH remain unknown. In this study, we investigated the clinical and imaging characteristics of 1018 patients with different subtypes of pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH). The independent determinants for all-cause death were identified using univariate and multivariate Cox proportional hazard models. PA dilatation was identified in 88.8% of the patients, and 27.2% had a PA diameter/ascending aorta diameter ratio greater than 1.5. PA diameter was shown to be significantly correlated with hemodynamic parameters and symptom duration in idiopathic PAH patients. PA diameter only correlated with pulmonary circulation volume in patients with PAH associated with congenital heart disease. PA diameter correlated with symptom duration and right ventricular end-diastolic dimension in CTEPH patients. PA diameter correlated with right ventricular end-diastolic dimension in patients with PAH associated with connective tissue disease. Only 6-min walk distance, but not PA dilatation, predicts all-cause death independently. In conclusion, PA dilatation is a common finding in PH patients. The clinical feature of PA dilatation varies greatly between PH types. PA dilatation is not associated with all-cause death.

The new clinical classification of metastatic spinal malignancies serves as a vital reference for surgical management: a retrospective case-control study.

BACKGROUND: It is commonly accepted that surgical treatment is an essential component of the comprehensive management of metastatic spinal malignancies. However, up until now, the clinical classification of metastatic spinal malignancies has not been well-structured. METHODS: After IRB approval, 86 patients with metastatic spinal malignancies were adopted. According to the vascular distribution, stability of vertebrae, and degree of nerve compression, metastatic spinal malignancies can be classified into five types. Tumors classified as type I typically appear in the vertebral body. Type II tumors are those that develop in the transverse processes, superior and inferior articular processes, and spinal pedicles. Type III denotes malignancies that are present in the spinous process and vertebral plate. Types IVa and IVb are included in type IV. Type IVa combines type I and type II, whereas type IVb combines type II and type III. Type V tumors are those of types I, II, and III that co-occur and spread in different directions into the spinal canal. 20 of included 86 patients who did not receive segmental arterial embolization were set as the non-embolization group. The embolization group included 24 patients who received segmental arterial embolization on both sides of the diseased vertebrae. 42 patients were included in the offending embolization group after receiving responsible arterial embolization. A surgical intervention was performed within 24 h following an embolization. Surgical intervention with the purpose of removing as much of the tumor as possible and providing an effective reconstruction of the spinal column. RESULTS: In comparison with the non-embolization group and embolization group, the offending embolization group presented unique advantages in terms of bleeding volume (p<0.001), operation time (p<0.001), and local recurrence rate within 12 months (p=0.006). CONCLUSION: By significantly reducing surgical trauma and local recurrence rate (12 months), responsible arterial vascular embolization procedures together with associated surgical protocols developed on the basis of the clinical classification of metastatic spinal malignancies, are worthy of clinical dissemination.

An Explainable Artificial Intelligence Model Proposed for the Prediction of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome and the Identification of Distinctive Metabolites.

BACKGROUND: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex and debilitating illness with a significant global prevalence, affecting over 65 million individuals. It affects various systems, including the immune, neurological, gastrointestinal, and circulatory systems. Studies have shown abnormalities in immune cell types, increased inflammatory cytokines, and brain abnormalities. Further research is needed to identify consistent biomarkers and develop targeted therapies. This study uses explainable artificial intelligence and machine learning techniques to identify discriminative metabolites for ME/CFS. MATERIAL AND METHODS: The model investigates a metabolomics dataset of CFS patients and healthy controls, including 26 healthy controls and 26 ME/CFS patients aged 22-72. The dataset encapsulated 768 metabolites into nine metabolic super-pathways: amino acids, carbohydrates, cofactors, vitamins, energy, lipids, nucleotides, peptides, and xenobiotics. Random forest methods together with other classifiers were applied to the data to classify individuals as ME/CFS patients and healthy individuals. The classification learning algorithms' performance in the validation step was evaluated using a variety of methods, including the traditional hold-out validation method, as well as the more modern cross-validation and bootstrap methods. Explainable artificial intelligence approaches were applied to clinically explain the optimum model's prediction decisions. RESULTS: The metabolomics of C-glycosyltryptophan, oleoylcholine, cortisone, and 3-hydroxydecanoate were determined to be crucial for ME/CFS diagnosis. The random forest model outperformed the other classifiers in ME/CFS prediction using the 1000-iteration bootstrapping method, achieving 98% accuracy, precision, recall, F1 score, 0.01 Brier score, and 99% AUC. According to the obtained results, the bootstrap validation approach demonstrated the highest classification outcomes. CONCLUSION: The proposed model accurately classifies ME/CFS patients based on the selected biomarker candidate metabolites. It offers a clear interpretation of risk estimation for ME/CFS, aiding physicians in comprehending the significance of key metabolomic features within the model.

Development and initial experience of a novel classification system for patients with brain stem haemorrhage.

INTRODUCTION: There is no uniform classification standard for brain stem haemorrhage. On the basis of previous experience in the treatment of brainstem haemorrhage, this study explored and established a set of criteria for brainstem haemorrhage classification, risk-stratified such patients and guided the selection of treatment options so as to achieve accurate and standardized diagnosis and treatment. MATERIAL AND METHODS: Thirty patients with brainstem haemorrhage from April 2019 to May 2022 were included. According to the amount and location of the brain stem bleeding, it was divided into the following types: small haemorrhage type (type 1), medium haemorrhage type (lateral type 2a, dorsal type 2b, ventral type 2c), and large haemorrhage type (type 3), and the preoperative condition and postoperative outcome within 3 months were evaluated. RESULTS: The included 30 patients with brainstem haemorrhage were aged 53.2 ±13.8 years old, and 80% were men. Among them, 5 patients were type 1 (16.7%), 2 patients type 2a (6.7%), 7 patients type 2b (23.3%), 5 patients type 2c (16.7%) and 11 patients type 3 (36.7%). The prognosis among these subtypes was significantly different ( p < 0.001). All type 1 patients were cured, with the highest mortality rate in type 2c patients (100%). Compared with type 2b (5.5 ±3.5 days) and type 2c (3.4 ±2.5 days), type 3 patients tend to die within fewer days (2.9 ±2.7 days). The difference in NIHSS scores was significant among surviving patients ( p < 0.001). Type 1 is the lowest at 1.8 ±2.2 points; type 3 is the highest at 35.0 ±3.5 points. CONCLUSIONS: Relying on the anatomical basis and treatment plan, we propose a different classification, which is conducive to quickly identifying the haemorrhage type and degree of disease, and putting forward an appropriate treatment plan, which is expected to improve the patient prognosis.

Analyzing the cost-effectiveness of microvascular decompression and percutaneous radiofrequency rhizotomy for trigeminal neuralgia: the role of clinical classification.

Trigeminal neuralgia (TN) is a neuropathic pain that can be treated with microvascular decompression (MVD) or percutaneous radiofrequency rhizotomy (PRR) when medications fail. However, the cost-effectiveness of these interventions is uncertain, and it is unclear whether TN should be considered as a single entity for cost-effectiveness analysis. To address these issues, a prospective cohort study was conducted between 2017 and 2020, documenting Burchiel et al.'s clinical classification, pain-free survival, complications, and costs. Two models of quality-adjusted life years (QALYs) were calculated: pain-specific (PQALY) and pain-complication-specific (PCQALY), based on pain-free survival and complications data, followed by cost-effectiveness analysis. The study included 112 patients, of whom 70 underwent MVD and 42 underwent PRR. Our findings revealed that MVD was less cost-effective in the PCQALY model than PRR, but more cost-effective in the PQALY model and had an incremental cost-effectiveness ratio (ICER) that met the World Health Organization cost-effectiveness threshold in both models. Further clinical classification analysis showed that MVD was only cost-effective in type 1 TN patients, with an ICER of 0.9 and 1.3 times the GDP/capita, based on PQALY and PCQALY, respectively, meeting the cost-effectiveness criteria. Conversely, MVD was economically dominated by PRR for type 2 TN patients based on PQALY. These findings indicate that PRR may be more cost-effective for type 2 TN patients, while MVD remains the cost-effective option for type 1 TN patients. Our study highlights the importance of clinical classification and complication in determining the cost-effectiveness of MVD and PRR for refractory TN.

A Novel Classification of Cervical Spine Trauma in Ankylosing Spondylitis and Corresponding Surgical Outcomes.

OBJECTIVE: Currently, there are no reports on the specific classification of cervical spine trauma (CST) in ankylosing spondylitis (AS) based on the trauma mechanism. In this study, we aimed to describe a novel classification of CST in AS with more details, and put forward the corresponding surgical outcomes related to different types, hoping to provide a practical reference for clinical decision-making and academic communication. METHODS: From January 2008 to December 2021, AS patients who experienced CST were retrospectively reviewed and included. Clinical data including gender, age, reason of trauma, time interval between AS diagnosis and trauma were collected. The American Spinal Injury Association (ASIA) grade system was used to describe patients' neurological status. Based on the combination of surgical experience and follow-up observation, the lower cervical spine trauma in AS patients was divided into three main types, namely single level fracture-dislocation (type 1), spinal cord injury without fracture-dislocation (type 2), and Andersson lesion (type 3). Furthermore, we performed detailed subtypes according to whether cervical spine was completely fused and the location of injury. Meanwhile, according to different approaches, surgical methods mainly included Anterior Cervical Discectomy and Fusion (ACDF), Anterior Cervical Corpectomy and Fusion (ACCF), Posterior Expansive Open-door Cervical Laminoplasty (PEOLP), Posterior Cervical Laminectomy Decompression and Fusion (PCLDF), and their combination. Postoperative general and surgery-related complications were also recorded. RESULTS: A total of 102 patients were enrolled, including 91 males and 11 females, with an average age of 51.9 years. Their average interval time between AS diagnosis and injury was 27.8 years. Patients with high-energy and low-energy trauma were 54 and 48 respectively. There were 79 patients suffering spinal cord nerve impairment after trauma. With regard to the distribution of different types, the number of patients in type 1, type 2, and type 3 were 86, 14, and two, respectively. For different types, PCLDF was the most commonly used surgical method, accounting for 55.9%, while ACCF was only applied for one time. In type 1, the frequencies of ACDF, ACCF, PCLDF, and ACDF+PCLDF were 10.5%, 1.2%, 55.8%, and 32.5%. In type 2, the frequencies of ACDF, PCLDF, ACDF+PCLDF, and PEOLP were 7.1%, 50.0%, 7.1%, 35.8%. Postoperatively, 21 patients achieved neurological function improvement. The incidences of general and surgery-related complications were 19.6% and 5.9%, respectively. All patients achieved bone fusion and durable decompression at the last follow-up. CONCLUSIONS: Our novel classification could enrich the scope of CST in AS patients and provide valuable references to the corresponding clinical management. Besides, there are strict indications of different surgical methods, factors like patient's physical condition, trauma type, surgical purpose, and expected efficacy were all required to consider before making a clinical decision.