Cohort Of Patients Research Articles

Application of machine learning algorithms to predict 30-day hospital readmission following cement augmentation for osteoporotic vertebral compression fractures

ObjectiveOsteoporosis is a common skeletal disease that greatly increases the risk of pathologic fractures and accounts for approximately 700,000 vertebral compression fractures (VCFs) annually in the United States. Cement augmentation procedures such as balloon kyphoplasty (KP) and percutaneous vertebroplasty (VP) have demonstrated efficacy in the treatment of VCFs, however, some studies report rates of readmission as high as 10.8% following such procedures. The purpose of this study was to employ Machine Learning (ML) algorithms to predict 30-day hospital readmission following cement augmentation procedures for the treatment of VCFs using the American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) database. MethodsACS-NSQIP was queried to identify patients undergoing either KP or VP from 2011 to 2014. Three ML algorithms were constructed and tasked with predicting post-operative readmissions within this cohort of patients. Results: Postoperative pneumonia, ASA Class 2 designation, age, partially-dependent functional status, and a history of smoking were independently identified as highly predictive of readmission by all ML algorithms. Among these variables postoperative pneumonia (p < 0.01), ASA Class 2 designation (p < 0.01), age (p = 0.002), and partially-dependent functional status (p < 0.01) were found to be statistically significant. Predictions were generated with an average AUC value of 0.757 and an average accuracy of 80.5%. ConclusionsPostoperative pneumonia, ASA Class 2 designation, partially-dependent functional status, and age are perioperative variables associated with 30-day readmission following cement augmentation procedures. The use of ML allows for quantification of the relative contributions of these variables toward producing readmission.

Comparison of the Measurement Properties of EQ-5D-5L and SF-6Dv2 in COVID-19 Patients in China.

There are limited studies comparing the health utility values of EQ-5D-5L and SF-6Dv2 within the same patient cohorts. The widespread transmission and recurring infections associated with Omicron variants amid the COVID-19 pandemic have resulted in substantial health detriments and increased utilisation of health care resources. This highlights the crucial need to assess the loss in quality-adjusted life years (QALYs). Therefore, this study aims to compare the ceiling and floor effects, agreement, correlation and responsiveness between EQ-5D-5L and SF-6Dv2 based on COVID-19 patients during the Omicron outbreak in China. We recruited 694 COVID-19 patients across mainland China to participant in an online questionnaire survey from January to February 2023. The questionnaire encompassed queries concerning the sociodemographic and health details of the participants, who were requested to recollect their health status during and after experiencing COVID-19 using the EQ-5D-5L and SF-6Dv2 questionnaires. Epanechnikov kernel density plots were used to visualise the ceiling and floor effects for both instruments. Agreement was assessed by Bland-Altman graph and intraclass correlation coefficient (ICC). Correlation was evaluated using linear regression, Pearson's correlation and Spearman's correlation. The standardised response mean (SRM) and relative efficiency (RE) were used to examine the responsiveness of EQ-5D-5L and SF-6Dv2 at detecting the health improvement after COVID-19 infection and the difference in dichotomous health indicators. In total, 648 valid responses from patients aged 35.6 ± 15.0 years were involved in analysis. The EQ-5D-5L utility indices were 0.58 ± 0.33 and 0.92 ± 0.14 during and after COVID-19 infection, respectively, which were significantly higher than indices of the SF-6Dv2 utility (0.43 ± 0.31 and 0.81 ± 0.19, p < 0.001). A ceiling effect of EQ-5D-5L larger than that of SF-6Dv2 was observed during COVID-19 infection (49.5% vs 21.6%). Intraclass correlation coefficients between EQ-5D-5L and SF-6Dv2 during and after COVID-19 infection were 0.69 and 0.55, respectively. The utility indices of EQ-5D-5L and SF-6Dv2 were highly correlated, with Pearson's correlation coefficients of 0.76 and 0.70 (p < 0.001) during and after COVID-19 infection, respectively. The spearman's correlations were moderate to high between dimensions of EQ-5D-5L and SF-6Dv2 (p < 0.01). Both EQ-5D-5L and SF-6Dv2 were responsive to detect health improvement after COVID-19 and the differences in dichotomous health indicators. The utility indices generated by EQ-5D-5L and SF-6Dv2 in COVID-19 patients demonstrate strong correlation and responsiveness. However, the agreement between these two instruments does not reach a satisfactory level. Consequently, these two measures cannot be used interchangeably. In situations where apprehensions about ceiling effects affecting outcome measurement arise, it is advisable to consider SF-6Dv2 as a preferable outcome measure for studies on patients with COVID-19.

Plasma Proteomics Identifies B2M as a Regulator of Pulmonary Hypertension in Heart Failure With Preserved Ejection Fraction.

Pulmonary hypertension (PH) represents an important phenotype in heart failure with preserved ejection fraction (HFpEF). However, management of PH-HFpEF is challenging because mechanisms involved in the regulation of PH-HFpEF remain unclear. We used a mass spectrometry-based comparative plasma proteomics approach as a sensitive and comprehensive hypothesis-generating discovery technique to profile proteins in patients with PH-HFpEF and control subjects. We then validated and investigated the role of one of the identified proteins using in vitro cell cultures, in vivo animal models, and independent cohort of human samples. Plasma proteomics identified high protein abundance levels of B2M (β2-microglobulin) in patients with PH-HFpEF. Interestingly, both circulating and skeletal muscle levels of B2M were increased in mice with skeletal muscle SIRT3 (sirtuin-3) deficiency or high-fat diet-induced PH-HFpEF. Plasma and muscle biopsies from a validation cohort of PH-HFpEF patients were found to have increased B2M levels, which positively correlated with disease severity, especially pulmonary capillary wedge pressure and right atrial pressure at rest. Not only did the administration of exogenous B2M promote migration/proliferation in pulmonary arterial vascular endothelial cells but it also increased PCNA (proliferating cell nuclear antigen) expression and cell proliferation in pulmonary arterial vascular smooth muscle cells. Finally, B2m deletion improved glucose intolerance, reduced pulmonary vascular remodeling, lowered PH, and attenuated RV hypertrophy in mice with high-fat diet-induced PH-HFpEF. Patients with PH-HFpEF display higher circulating and skeletal muscle expression levels of B2M, the magnitude of which correlates with disease severity. Our findings also reveal a previously unknown pathogenic role of B2M in the regulation of pulmonary vascular proliferative remodeling and PH-HFpEF. These data suggest that circulating and skeletal muscle B2M can be promising targets for the management of PH-HFpEF.

Elotuzumab plus pomalidomide and dexamethasone in relapsed/refractory multiple myeloma: Extended follow-up of a multicenter, retrospective real-world experience with 321 cases outside of controlled clinical trials.

The ELOQUENT-3 trial demonstrated the superiority of the combination of elotuzumab, pomalidomide, and dexamethasone (EloPd) in terms of efficacy and safety, compared to Pd in relapsed/refractory multiple myeloma (RRMM), who had received at least two prior therapies, including lenalidomide and a proteasome inhibitor. The present study is an 18-month follow-up update of a previously published Italian real-life RRMM cohort of patients treated with EloPd. This revised analysis entered 319 RRMM patients accrued in 41 Italian centers. After a median follow-up of 17.7months, 213 patients (66.4%) experienced disease progression or died. Median progression-free survival (PFS) and overall survival (OS) were 7.5 and 19.2months, respectively. The updated multivariate analysis showed a significant reduction of PFS benefit magnitude both in advanced International Staging System (ISS) (II and III) stages and previous exposure to daratumumab cases. Instead, advanced ISS (II and III) stages and more than 2 previous lines of therapy maintained an independent prognostic impact on OS. Major adverse events included grade three-fourths neutropenia (24.9%), anemia (13.4%), lymphocytopenia (15.5%), and thrombocytopenia (10.7%), while infection rates and pneumonia were 19.3% and 8.7%, respectively. A slight increase in the incidence of neutropenia and lymphocytopenia was registered with longer follow-up. In conclusion, our real-world study still confirms that EloPd is a safe and possible therapeutic choice for RRMM. Nevertheless, novel strategies are desirable for those patients exposed to daratumumab.

Healthcare utilization in women diagnosed with endometrial cancer: A survey-based study

ObjectiveDespite similar incidence, non-Hispanic Black women are twice as likely to die of endometrial cancer as non-Hispanic White women. The social determinants of health may contribute to this disparity. We studied barriers to care and social needs of endometrial cancer patients. MethodsIn a cohort of patients with endometrial cancer from the All of Us study, participants self-reported demographics and completed validated surveys (access to medical care, transportation, caregiving, finances, medication, general care, specialty care, housing insecurity). Univariate and multivariate logistic regression models evaluated demographic and access factors associated with any need. ResultsOf 568 participants, 77.7% identified as non-Hispanic White, 7.5% Black, and 8.8% Hispanic. 59% were > 65 years and 95.8% insured. Contributors to delays in care were paying out of pocket (9.9%), provider anxiety (7.6%), transportation (6.3%), cost of copay (6.2%), and insufficient leave from work (5.6%). To mitigate healthcare costs, 16.2% of participants inquired about lower-cost medications, 11.1% reported delaying filling prescriptions, 7.6% taking fewer prescribed medications, and 6.5% skipped doses. Regarding multivariate analysis, participants earning <$25,000 had a 7.3 (95% CI 1.7–31.7) higher adjusted odds of transportation needs and 3.6 (95% CI 1.4–9.7) higher difficulty accessing specialists. No racial/ethnic disparities were identified. ConclusionsSocial needs and barriers to care are most pronounced among endometrial cancer survivors earning <$25,000. Unexpectedly, and possibly related to sample size or survey tool, race/ethnicity were not zassociated with barriers to care. Further studies on health-related social needs, optimal screening tools, and effective interventions are needed in order to achieve equity in cancer outcomes for endometrial cancer patients.

Enlightenment on Knee Flexors Strength Loss in Cases of Posterior Knee Pain After Anterior Cruciate Ligament Reconstruction.

The persistence and the recurrence of posterior medial knee pain (PKP) after anterior cruciate ligament reconstruction (ACLR) using hamstring tendon graft are often overlooked during rehabilitation. Cross-sectional observational study. The study aimed (1)to evaluate the prevalence of these types of PKP before 4months post-ACLR, (2)to measure their consequences on the knee flexors strength, and (3)to evaluate the role of the type of ACLR. From a cohort of patients operated on with hamstring tendon procedures, the persistent and the recurrent PKP were sought at 4months post-ACLR. The evolution of isokinetic muscle strength recovery in PKP subjects was compared with those of nonpainful subjects. The functional deficit was measured at 6/7months post-ACLR by a hop test. Three hundred seventeen subjects (25.8 [6.0]y) were included. At 4months post-ACLR, 2 populations were identified based on the recurrent onset of PKP (PKP+, n = 40) or the absence of knee pain (PKP-, n = 277). The prevalence of PKP was 8.3%. At the fourth month post-ACLR, the PKP+ group had a higher flexor strength deficit compared with the PKP- group (limb symmetry index at 60°/s: 67.2% [12.4%] vs 84.3% [12.6%]; P < .05). At 6/7months, the loss of strength persisted (limb symmetry index at 60°/s: 82.3% [13.4%] vs 87.7% [12.8%]; P < .05). The hop test deficit was comparable, and no difference was shown according to the type of graft. Persistent and recurrent PKP during the rehabilitation period were not uncommon and were associated with a worsening of flexors strength loss on the ACLR side.

Jugular Approach for the Transcatheter Pacemaker Implant - Better Access for Smaller Hearts?

The Micra leadless pacemaker was developed to fit inside the right ventricle, thereby reducing overall complications by 48% compared with a historical control group. The current labeling restricts implants to the femoral approach. In this article we used 3-dimensional computer models of human hearts to demonstrate why implants can be difficult in small patients and how using the jugular approach reduces these difficulties.Methods and Results: Cardiac computed tomography scans were made of 45 pacemaker patients, 26 in the US and 19 from a single center in Japan. Dimensional measurements were taken in all 45 hearts, and these dimensions were compared between patient cohorts and between the Micra delivery tool dimension and patient heart dimensions. Hearts were smaller among patients in the Japanese than US cohort. In addition, the tool dimension exceeded heart dimensions in a larger percentage of hearts from Japanese patients. Three dimensions were identified that most likely limit navigating across the tricuspid valve to the right ventricle in smaller hearts and for which the jugular approach improved navigation. Although the femoral procedure today maintains an excellent safety profile and procedure experience for most global implants, this study provides the rationale as to why the jugular approach may improve the ease of the Micra implant in small hearts, namely by reducing the tortuosity of the navigation across the tricuspid valve.

Doubly Robust Augmented Model Accuracy Transfer Inference with High Dimensional Features

Transfer learning is crucial for training models that generalize to unlabeled target populations using labeled source data, especially in real-world studies where label scarcity and covariate shift are common. While most research focuses on model estimation, there is limited literature on transfer inference for model accuracy despite its importance. We introduce a novel Doubly Robust Augmented Model Accuracy Transfer Inferen Ce (DRAMATIC) method for point and interval estimation of commonly used classification performance measures in an unlabeled target population with labeled source data. DRAMATIC derives and evaluates a potentially misspecified risk model for a binary response, leveraging high-dimensional adjustment features from both source and target data. It builds on an imputation model for the response mean and a density ratio model to characterize distributional shifts. The method constructs doubly robust estimators that are valid when either model is correctly specified and certain sparsity assumptions hold. Simulations show negligible bias in point estimation and satisfactory empirical coverage levels in confidence intervals. The utility of DRAMATIC is illustrated by transferring a genetic risk prediction model and its accuracy evaluation for type II diabetes across two patient cohorts in Mass General Brigham (MGB). Supplementary materials for this article are available online, including a standardized description of the materials available for reproducing the work.

Integration of Electrochemical Sensing and Machine Learning to Detect Tuberculosis via Methyl Nicotinate in Patient Breath.

Tuberculosis (TB) remains a significant global health issue; making early, accurate, and inexpensive point-of-care detection critical for effective treatment. This paper presents a clinical demonstration of an electrochemical sensor that detects methyl-nicotinate (MN), a volatile organic biomarker associated with active pulmonary tuberculosis. The sensor was initially tested on a patient cohort comprised of 57 adults in Kampala, Uganda, of whom 42 were microbiologically confirmed TB-positive and 15 TB-negative. The sensor employed a copper(II) liquid metal salt solution with a square wave voltammetry method tailored for MN detection using commercially available screen-printed electrodes. An exploratory machine learning analysis was performed using XGBOOST. Utilizing this approach, the sensor was 78% accurate with 71% sensitivity and 100% specificity. These initial results suggest the sensing methodology is effective in identifying TB from complex breath samples, providing a promising tool for non-invasive and rapid TB detection in clinical settings.

Assessing Patterns of CGM use and Metrics of Glycemic Control in T1D and T2D Patients in the Veterans Healthcare System: Integrating CGM Device Data with EHR Data.

To integrate long-term daily continuous glucose monitoring (CGM) device data with electronic health records (EHR) for type 1 and type 2 diabetes patients in the Veterans Affairs Healthcare System to assess real-world patterns of CGM use and the reliability of EHR-based CGM information. This observational study used Dexcom CGM device data linked with EHR (from 2015-2020) for a large national cohort of diabetes patients. We tracked the initiation and consistency of CGM use, assessed concordance of CGM use and measures of glucose control between CGM device data and EHR records, and examined results by age, ethnicity, and diabetes type. The time from pharmacy release of CGM to patients to initiation of uploading CGM data to Dexcom servers averaged three weeks but demonstrated wide variation among individuals; importantly, this delay decreased markedly over the later years. The average daily wear time of CGM exceeded 22 hours over nearly three years of follow-up. Patterns of CGM use were generally consistent across age, race/ethnicity groups and diabetes type. There was strong concordance between EHR-based estimates of CGM use and Dexcom CGM wear time and between estimates of glucose control from both sources. The study demonstrates our ability to reliably integrate CGM devices and EHR data to provide valuable insights into CGM use patterns. The results indicate in the real-world environment that CGM is worn consistently over many years for both type 1 and type 2 patients within the Veterans Affairs Healthcare System and is similar across major race/ethnicity and age groups.

The Impact of Telehealth on Obstetrical Outcomes during the COVID-19 Pandemic.

Nationwide, obstetric clinics modified prenatal care to include telehealth visits in response to the COVID-19 pandemic, enabling the opportunity to investigate its impact on patient outcomes. We hypothesized that use of prenatal telehealth visits would increase the number of prenatal visits, decrease the frequency of urgent triage/emergency department (ED) visits, and improve perinatal outcomes. To determine the impact of telehealth on number of obstetric prenatal visits and urgent triage/ED visits amidst the COVID-19 pandemic. This is a retrospective cohort of patients from a federally qualified health center (FQHC) in central Texas. Patients with a singleton gestation who delivered after 32 weeks were included. Comparison groups were made between those patients who delivered between May 2020 to December 2020 (presumed modified prenatal visit schedule with in-person and telehealth) and those patients delivering between June 2019 to February 2020 (the traditional care model with in-person visits only). Multivariable linear and logistic regression models were used to estimate differences in the number of prenatal visits and unscheduled triage/ED visits. A total of 1654 patients were identified with 801 (48.4%) patients undergoing modified prenatal care and 853 (51.6%) patients receiving traditional care during the study period. No significant differences were seen in overall prenatal attendance or triage/ED presentations. However, when stratified by parity, multiparous patients undergoing modified prenatal care were less likely to experience an urgent triage/ED presentation (8.7% vs. 12.7%; odds ratio, 1.69; 95% confidence interval, 1.10-2.61). When compared to a traditional prenatal visitation cohort pre-pandemic, patients who received modified telehealth prenatal care during the COVID-19 pandemic had similar prenatal attendance and unscheduled emergency presentations. However, multiparous patients experienced a decreased rate of unscheduled emergency presentations. Supplementing prenatal care with telehealth may provide overall comparable prenatal care delivery.

Volumetric computed tomography measurements as predictors for outcomes in a cohort of Fournier's gangrene patients.

This study evaluates the prognostic value of CT findings, including volumetric measurements, in predicting outcomes for patients with Fournier gangrene (FG), focusing on mortality, ICU admission, hospital stay length, and healthcare costs. A retrospective study was conducted on 38 FG patients who underwent CT scans before surgical debridement. We analyzed demographic data, CT volumetric measurements, and clinical outcomes using logistic and linear regression models. No single CT measurement significantly predicted mortality or ICU admission. The best model for mortality prediction included age, air volume, NSTI score, and male sex, with an AUC of 0.911. Intubation likelihood was modeled with an AUC of 0.913 using age, NSTI score, and visceral to subcutaneous fat ratio. The ICU admission model achieved an AUC of 0.677. Hospital stay was predicted by air volume (β = 0.0002656, p = 0.0505) with an adjusted R-squared of 0.1287. Air volume significantly predicted hospital costs (β = 2.859, p = 0.00558), resulting in an adjusted R-squared of 0.2165. Volumetric CT findings provide valuable prognostic insights for FG patients, suggesting a basis for informed clinical decisions and resource allocation. Further validation in larger, multi-center studies is recommended to develop robust predictive models for FG outcomes.

Treatment for paraganglioma with stereotactic radiotherapy.

Paragangliomas (PG) are rare neoplasms of neuroendocrine origin that tend to be highly vascularized, slow-growing, and usually sporadic. To date, common treatment options are surgical resection (SR), with or without radiation therapy (RT), and a watch-and-wait approach. To evaluate the local control and effectiveness of exclusive fractionated stereotactic RT (FSRT) treatment in unresectable PG (uPG). We retrospectively evaluated patients with uPG (medically inoperable or refused SR) treated with FSRT with a Cyberknife System (Accuray Incorporated, Sunnyvale, California). Toxicity and initial efficacy were evaluated. From May 2009 to January 2023, 6 patients with a median age of 68 (range 20-84) were treated with FSRT. The median delivered dose was 21 Gy (range 20-30 Gy) at a median isodose line of 75.5% (range 70%-76%) in 4 fractions (range 3-5 fractions). The median volume was 13.6 mL (range 12.4-65.24 mL). The median cumulative biological effective dose and equivalent dose in 2-Gy fractions were 70 Gy and 37.10 Gy respectively. Site of origin involved were the timpa-nojugular glomus (4/6), temporal bone, and cervical spine. In 1 of the 6 patients, the follow-up was insufficient; 5 of 6 patients showed a 5-year overall survival and 5-year progression-free survival of 100%. We observed negligible toxicities during and after RT. The majority of patients showed stable symptoms during follow-up. Only 1 patient developed spine metastases. Our preliminary results on this small cohort of patients suggest that FSRT could be an effective and safe alternative to SR.

Comparison of Ductal Stent Versus Surgical Shunt as Initial Intervention for Neonates with Pulmonary Atresia with Intact Ventricular Septum.

Data comparing surgical systemic-to-pulmonary artery shunt and patent ductus arteriosus (PDA) stent as the initial palliation procedure for patients with pulmonary atresia with intact ventricular septum (PA-IVS) are limited. We sought to compare characteristics and outcomes in a multicenter cohort of patients with PA-IVS undergoing surgical shunts versus PDA stents. We retrospectively reviewed neonates with PA-IVS from 2009 to 2019 in 19 United States centers. Bivariate comparisons and multivariable logistic regression analysis were performed to determine the relationship between initial palliation strategy and outcomes including major adverse cardiovascular events (MACE): stroke, mechanical circulatory support, cardiac arrest, or death. Included were 187 patients were included: 38 PDA stents and 149 surgical shunts. Baseline characteristics did not differ statistically between groups. Post-procedural MACE occurred in 4 patients (11%) with PDA stents versus 38 (26%) with surgical shunts, p = 0.079. Overall, the initial palliation strategy was not significantly associated with MACE (aOR:0.37; 95% CI,0.13-1.02). In patients with moderate-to-severe right ventricle hypoplasia, PDA stents were significantly associated with decreased odds of MACE (aOR:0.36; 95% CI,0.13-0.99). PDA stents were associated with lower vasoactive inotrope scores (median 0 versus 5, p < 0.001), greater likelihood to be extubated at the end of their procedure (37% versus 4%, p < 0.001), and shorter duration of mechanical ventilation (median 24 versus 96h, p < 0.001). PDA stents were associated with significantly more unplanned reinterventions for hypoxemia compared to surgical shunts (42% vs. 20%, p = 0.009). In this multicenter study, neonates with PA-IVS who underwent PDA stenting received less vasoactive and ventilatory support postoperatively compared to those who had surgical shunts. Furthermore, patients with the most severe morphology had decreased odds of MACE.

Superior outcomes and high-risk features with carfilzomib, lenalidomide, and dexamethasone combination therapy for patients with relapsed and refractory multiple myeloma: Results of the multicenter KMMWP2201 study.

Carfilzomib, lenalidomide, and dexamethasone (KRd) combination therapy improves the survival of patients with relapsed and/or refractory multiple myeloma (RRMM). Nonetheless, evidence on the use of KRd in Asian populations remains scarce. Accordingly, this study aimed at investigating this regimen's efficacy in a large group of patients. This retrospective study included patients with RRMM who were treated with KRd at 21 centers between February 2018 and October 2020. Overall, 364 patients were included (median age: 63 years). The overall response rate was 90% in responseevaluable patients, including 69% who achieved a very good partial response or deeper responses. With a median follow-up duration of 34.8 months, the median progression-free survival (PFS) was 23.4 months and overall survival (OS) was 59.5 months. Among adverse factors affecting PFS, highrisk cytogenetics, extramedullary disease, and doubling of monoclonal protein within 2 to 3 months prior to start of KRd treatment significantly decreased PFS and overall survival (OS) in multivariate analyses. Patients who underwent post-KRd stem cell transplantation (i.e.delayed transplant) showed prolonged PFS and OS. Grade 3 or higher adverse events (AEs) were observed in 56% of the patients, and non-fatal or fatal AE's that resulted in discontinuation of KRd were reported in 7% and 2% of patients, respectively. Cardiovascular toxicity was comparable to that reported in the ASPIRE study. In summary, KRd was effective in a large real-world cohort of patients with RRMM with long-term follow-up. These findings may further inform treatment choices in the treatment of patients with RRMM.

Long-term health economic evaluation of intermittently scanned glucose monitoring compared with self-monitoring blood glucose in a real-world setting in Finnish adult individuals with type 1 diabetes.

There has been an evolving trend in the use of intermittently scanned continuous glucose monitoring (isCGM) among individuals with type 1 diabetes. Although isCGM is proven to be beneficial in the treatment of individuals with type 1 diabetes, its use leads to increasing device costs. This study aimed to investigate the long-term cost-effectiveness of isCGM. Long-term clinical outcomes and costs were projected using the IQVIA Core Diabetes Model (v10.0) based on the observed real-world outcomes of isCGM. The clinical input data for the analysis were sourced from a real-world patient cohort from Eastern Finland including 877 adult individuals with type 1 diabetes with isCGM (i.e. Freestyle Libre 1 and 2) At the baseline, the patients' mean age was 48 years, and the mean duration of diabetes was 25.8 years. The mean baseline HbA1c was 8.6% and the mean 12-month change from baseline in HbA1c was -0.37% after the initiation of isCGM. The cost-effectiveness analysis was performed over a lifetime time horizon. A discount rate of 3% was used for the future costs and health outcomes. The projected use of isCGM was associated with improved quality-adjusted life year (QALY) expectancy of 0.84 QALYs after the start of isCGM. The direct lifetime costs were 7,861 EUR higher with the use of isCGM which resulted in an incremental cost-effectiveness ratio (ICER) of 9,396 EUR per QALY gained. According to the present analysis the use of isCGM is considered cost-effective in adult individuals with type 1 diabetes in a real-world setting in Finland.

A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye.

Lipoid proteinosis (LP) is an inherited disorder characterized by the accumulation of hyaline-like material in the skin, oral cavity, and larynx. The primary symptoms include hoarseness, restricted tongue movements, and various skin lesions. LP is caused by biallelic pathogenic variants in the ECM1 gene. We studied 20 patients from nine different families with LP, 19 of whom are from Şanlıurfa in the southeastern region of Turkiye. Overall, the clinical features of the patient cohort were consistent with those mentioned in the literature, except for one exhibited an atrophoderma vermiculatum-like lesion, which is atypical for LP. The clinical exome sequencing analysis revealed three different homozygous variants in the ECM1 gene (NM_004425). While c.1246C>T p.(Arg416*) on Exon 8 and c.806G>A p.(Cys269Tyr) on Exon 7 were detected in 1 patient each, an intragenic deletion of 1163 base-pairs including Exons 9 and 10 (c.1304 + 33_*300del) was identified in 18 patients from 7 unrelated families. The haplotype analysis of the deletion variant indicated a founder effect in the families from the Şanlıurfa province of Turkiye. Based on all this information, copy number variation analysis is recommended for patients with LP. In addition to this rare observation, this study represents the largest examination of the molecular spectrum of LP patients in Turkiye, alongside the clinical spectrum.

Celiac Disease and the Risk of Micronutrient Deficiencies in Ethnic Minority Populations: A Retrospective Cohort Study.

Celiac disease (CD) is a chronic immune-mediated disorder triggered by gluten ingestion in genetically predisposed individuals. Historically, CD was primarily recognized and described as a disease of the Caucasian population. Data from a national survey in 2015 revealed that 0.79% of the population was formally diagnosed with celiac disease, with the non-Hispanic white population having a prevalence of 4-8 times higher than other underrepresented races. Although there is evidence that CD affects minorities at higher than reported rates, there is little data on its effects on minority populations. Our study aimed to characterize celiac-related complications among underrepresented populations in a large health database. We performed a cohort study among patients aged ≥18, utilizing the TriNetX US Collaborative Network. Two cohorts of patients (minority and non-Hispanic white) with CD were identified between 2016 and 2021. Cohorts were propensity scores matched on demographics and baseline clinical characteristics. Outcomes were assessed up to 1 year after the index event (CD diagnosis), including vitamin/mineral deficiencies and hospital visits. Data were analyzed using the TriNetX Analytics function. Each group was matched with 817 patients. Compared to the non-Hispanic white population, the minority group had a similar incidence of iron, vitamin B, and zinc deficiencies. The minority group had a higher risk of vitamin D deficiency, anemia secondary to iron deficiency, inpatient hospital stays, and emergency department visits. Our results indicate that minority patients with celiac disease have a higher incidence of vitamin D and iron deficiency.

Prevalence and Characteristics of Adults with Difficult-to-Treat Rheumatoid Arthritis in a Large Patient Registry.

An estimated 5-20% of patients with rheumatoid arthritis (RA) fail multiple treatments and are considered "difficult-to-treat" (D2T), posing a substantial clinical challenge for rheumatologists. A European Alliance of Associations for Rheumatology (EULAR) task force proposed a definition of D2T-RA in 2021. We applied EULAR's D2T definition in a cohort of patients with established RA to assess prevalence and we compared clinical characteristics of participants with D2T-RA with matched comparisons. Data from the longitudinal Brigham and Women's Hospital Rheumatoid Arthritis Sequential Study (BRASS) registry was used. Participants were classified as D2T if they met EULAR's definition. A comparison group of non-D2T RA patients were matched 2:1 to every D2T patient, and differences in characteristics were evaluated in descriptive analyses. Prevalence rates of D2T were estimated using Poisson regression. We estimated the prevalence of D2T-RA to be 14.4 (95% CI: 12.8-16.3 per 100 persons) among 1,581 participants with RA, and 22.3 (95% CI: 19.9-25.0 per 100 persons) among 1,021 who were biologic/targeted synthetic DMARD experienced. We observed several differences in demographics, comorbidities, and RA disease activity between D2T-RA and non-D2T RA comparisons. Varying EULAR sub-criteria among all participants in BRASS resulted in a range of D2T-RA prevalence rates, from 0.6-17.5 per 100 persons. EULAR's proposed definition of D2T-RA identifies patients with RA who have not achieved treatment targets. Future research should explore heterogeneity in these patients and evaluate outcomes to inform the design of future studies aimed at developing more effective RA management protocols.

Survival after Resection of Malignant Peripheral Nerve Sheath Tumors: introducing and validating a novel type-specific prognostic model

Abstract Background This study aimed to assess the performance of currently available risk calculators in a cohort of patients with malignant peripheral nerve sheath tumors (MPNST) and to create an MPNST-specific prognostic model including type-specific predictors for overall survival (OS). Methods This is a retrospective multicenter cohort study of patients with MPNST from eleven secondary or tertiary centers in The Netherlands, Italy and the USA. All patients diagnosed with primary MPNST who underwent macroscopically complete surgical resection from 2000-2019 were included in this study. A multivariable Cox proportional hazard model for OS was estimated with pre-specified predictors (age, grade, size, NF-1 status, triton status, depth, tumor location and surgical margin). Model performance was assessed for the Sarculator and PERSARC calculators by examining discrimination (C-index) and calibration (calibration plots and observed-expected statistic; O/E-statistic). Internal-external cross-validation by different regions was performed to evaluate the generalizability of the model. Results A total of 507 patients with primary MPNSTs were included from 11 centers in 7 regions. During follow-up (median 8.7 years), 211 patients died. The C-index was 0.60 (95% CI 0.53-0.67) for both Sarculator and PERSARC. The MPNST-specific model had a pooled C-index of 0.69 (95%CI 0.65-0.73) at validation, with adequate discrimination and calibration across regions. Conclusions The MPNST-specific MONACO model can be used to predict 3-, 5-, and 10-year OS in patients with primary MPNST who underwent macroscopically complete surgical resection. Further validation may refine the model to inform patients and physicians on prognosis and support them in shared decision-making.