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    Kirners deformity – a systematic review and surgery recommendations

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    <jats:title>Abstract</jats:title><jats:sec> <jats:title>Background</jats:title> <jats:p>Kirner deformity is a rare anomaly of the little finger in adolescents, characterized by a deformity of the distal phalanx and a radiologically L-shaped epiphysis, along with palmar and radial angulation of the distal phalanx. Due to the rarity of these pathological findings, there are no systematic literature reviews available. This work serves as an overview of the clinical presentation, frequency and age distributions, as well as possible conservative and surgical treatment options.</jats:p> </jats:sec><jats:sec> <jats:title>Methods</jats:title> <jats:p>We present five cases of patients with Kirner’s deformity of the little finger who underwent surgical treatment. A partial tenotomy of the flexor digitorum profundus tendon from the metaphyseal/diaphyseal distal phalanx was performed. In one case, a dorsal epiphysiodesis was also carried out. Additionally, a systematic review of the literature on Kirner’s deformity was conducted, summarizing the prevalence, previously used surgical treatment options, and epidemiological data.</jats:p> </jats:sec><jats:sec> <jats:title>Results</jats:title> <jats:p>In the presented cases, the detachment of the FDP tendon and dorsal epiphysiodesis resulted in a good functional and aesthetic outcome. Regarding the epidemiological distribution of Kirner deformity, it is noted that significantly more females are affected than males (63% vs. 36%). The average age at presentation in the respective clinic was 9.36 years (± 2.5). In more than half of all reported cases, the deformity was bilateral. Surgical intervention was performed in only 7.4% of cases, which included FDP detachment or corrective osteotomies. More than 90% of patients were treated conservatively.</jats:p> </jats:sec><jats:sec> <jats:title>Conclusion</jats:title> <jats:p>Kirner’s deformity is a rare condition affecting adolescents. In cases where functional limitations or pain symptoms are present, we recommend surgical intervention via detachment of the FDP tendon. If the deformity is an incidental finding without functional or aesthetic limitations, conservative therapy with a corrective splint can be initiated. From our perspective, early surgical treatment before the age of 12 improves both the long-term functional and aesthetic outcomes.</jats:p> </jats:sec&gt

    Integrating bulk and single-cell RNA sequencing reveals SH3D21 promotes hepatocellular carcinoma progression by activating the PI3K/AKT/mTOR pathway

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    As a novel genetic biomarker, the potential role of SH3D21 in hepatocellular carcinoma remains unclear. Here, we decipher the expression and function of SH3D21 in human hepatocellular carcinoma. The expression level and clinical significance of SH3D21 in hepatocellular carcinoma patients, the relationship between SH3D21 and the features of tumor microenvironment (TME) and role of SH3D21 in promoting hepatocellular carcinoma progression were analyzed based on the bulk samples obtained from The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) databases. Single-cell sequencing samples from Gene Expression Omnibus (GEO) database were employed to verify the prediction mechanism. Additionally, different biological effects of SH3D21 on hepatocellular carcinoma cells were investigated by qRT-PCR, CCK-8 assay, colony forming assay and Western blot analysis. Bioinformatics analysis and in vitro experiments revealed that the expression level of SH3D21 was up-regulated in hepatocellular carcinoma and correlated with the poor prognosis in hepatocellular carcinoma patients. SH3D21 effectively promoted the proliferation, invasion, and migration as well as the formation of immunosuppressive microenvironment of hepatocellular carcinoma. In addition, SH3D21 can activate the PI3K/AKT/mTOR signaling pathway. SH3D21 stimulates the progression of hepatocellular carcinoma by activating the PI3K/AKT/mTOR signaling pathway, and SH3D21 can serve as a prognostic biomarker and therapeutic target for hepatocellular carcinoma

    Hypersensitivity pneumonitis associated with home mold exposure: A retrospective cohort analysis

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    BACKGROUND: Home mold exposure is a commonly overlooked cause of hypersensitivity pneumonitis. This is in part due to the limited literature supporting the association as well as the lack of exposure characterization available in reported cases. Notably, climate change, extreme weather patterns and frequent flooding continue to create conditions that promote home mold growth. As remediation has the potential to improve outcomes, clinicians need to remain vigilant in searching for and identifying potential mold exposure in suspected HP patients. The purpose of this study is to describe a large retrospective cohort of patients with home mold associated HP. METHODS: HP patients were identified retrospectively from our single center interstitial lung disease (ILD) database between 2011–2019. Patients with a moderate, high, or definite confidence diagnosis of HP were included. The presence of residential mold exposure was confirmed by medical chart review by a pulmonologist trained in exposure assessment. RESULTS: Home mold exposure was identified as the culprit antigen in 54 of 231 hypersensitivity pneumonitis patients. An invasive procedure (bronchoalveolar lavage, transbronchial biopsy, and/or surgical lung biopsy) was performed to confirm the diagnosis of HP in 85.7% of the cohort. Home mold was principally caused by chronic and/or recurring water intrusion. The most common locations of mold within the home included the bathroom, bedroom, and air conditioning unit. Transplant free survival was 97.7 months, which did not differ from the 50 HP patients in our cohort with HP associated with a mold exposure outside the home or patients in our cohort with HP associated with avian antigen exposure. Of the 41 patients who removed the exposure, 5 (12.2%) had a > 10% improvement in FVC, including 4 with fibrotic HP. CONCLUSION: Our study is the largest to report an association between HP and home mold exposure and is the first report from the region of north Texas. As climate change continues to disrupt weather patterns causing storms and flooding in certain areas, clinicians should remain alert to the presence of mold and its potential contribution to development of HP

    Development of a clinical predictive score for allergic reactions during oral food challenges in pediatric patients

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    BACKGROUND: The oral food challenge (OFC) is the gold standard for diagnosing food allergies; but, it carries risks ranging from mild to life-threatening reactions, including anaphylaxis. Understanding and predicting these reactions is critical for safe clinical practice. OBJECTIVES: This study aimed to develop and validate a clinically predictive score for allergic reactions during OFCs in pediatric patients. METHODS: Using a retrospective database of pediatric patients undergoing OFCs at a pediatric outpatient clinic in Southern Thailand from January 2014 to December 2022, a multivariable predictive model was developed. Data on the reaction rates, demographics, and treatments were collected. Logistic regression analysis with predictor selection using a backward stepwise approach, was employed. The model’s performance was assessed using the area under the receiver operating characteristic curve (ROC), calibration, and classification measures. RESULTS: This study included 179 patients with an allergic reaction incidence of 12.3%. Predictors encompassed female, anaphylaxis and positive skin prick testing. The developed model achieved an ROC of 0.71. The patients were categorized into the low-risk (score 0–1) and high-risk (score 2–3) groups. Reaction rates during the OFCs were 6.7% in the low-risk group and 29.5% in the high-risk group. CONCLUSIONS: Our scoring model demonstrated predictive ability for OFC reactions in pediatric patients, offering valuable insights for clinical risk assessment

    The potential effectiveness of probiotics in reducing multiple sclerosis progression in preclinical and clinical studies: A worldwide systematic review and meta-analysis

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    BACKGROUND AND OBJECTIVE: Multiple Sclerosis (MS) is an immune-mediated disease characterized by nerve cell inflammation and demyelination. The effectiveness of probiotics in reducing inflammatory damage in MS. Therefore, the aim of this systematic review and meta-analysis was the potential effectiveness of probiotics in reducing Multiple Sclerosis progression in preclinical and clinical studies. METHODS: PubMed, Scopus, Cochrane, and Google Scholar databases were searched using multiple relevant keywords, and screening was carried out based on the inclusion/exclusion criteria from January 2004 to August 16, 2024. RESULTS: Based on our criteria, 269 papers were obtained, and after omission of unsuitable articles, 23 full-text articles consisting of 17 animal studies and six human models were selected. It was concluded that in an experimental autoimmune encephalomyelitis (EAE) animal model, probiotics such as Bifidobacterium, Prevotella, and Lactobacillus can decrease the T helper 1 (Th1)/Th17 ratio while inducing interferon gamma (IFN-γ) and interleukin (IL)-17 levels. In all cases, probiotics can modulate immune cells and cytokines and consequently decrease EAE signs and symptoms. In all human studies, single or multiple probiotics decreased the severity of disease and changed the gut microbiota population. CONCLUSION: Our results showed that probiotics can control the development of MS by reducing inflammatory conditions, and may have beneficial effects in the prevention and treatment of MS

    Healthcare utilization among patients with rheumatoid arthritis, with and without herpes zoster, a retrospective administrative data linked cohort study

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    BACKGROUND: Herpes zoster (HZ) infection is a significant concern among seniors and immunosuppressed patients including those with rheumatoid arthritis (RA). We aimed to compare healthcare utilization (HCU) and mortality in RA patients with and without HZ. METHODS: Patients from the Ontario Best Practices Research Initiative (OBRI) a clinical cohort (2008–2020) were linked to the Institute for Clinical Evaluative Sciences (ICES), a population health database. Each HZ patient was matched to four non-HZ patients based on sex, age, and HZ diagnosis date. The incidence of primary (HCU including hospitalization, Emergency Department (ED) visits, physician visits) and secondary (mortality and chronic clinical conditions) outcomes was calculated for each cohort, along with the impact of disease activity, patient-reported outcomes, and RA medication on these outcomes. RESULTS: The study included 269 RA patients with and 1072 without HZ. At index date (HZ diagnosis) patients with HZ were less likely to have private health insurance (45.7% vs. 56.5%) and more prone to use biologics (30.9% vs. 26.8%) and JAK inhibitors (3.7% vs. 2.6%). Hospitalization/ED visits and mortality were higher in HZ patients, but these differences were not statistically significant after adjusting for other factors. HZ patients had significantly more physician visits (adj IRR: 1.17; 95% CI: 1.03–1.33). Female sex and lower CDAI were associated with fewer physician visits. JAK inhibitor use was associated with increased mortality (adj HR: 4.73, 95% CI: 1.68, 13.4). CONCLUSION: HCU was higher in RA patients with HZ, particularly in physician visits. Disease activity, patient reported outcomes and RA medication used did not have an impact on HCU and mortality

    Detecting Left Ventricular Systolic Dysfunction in Left Bundle Branch Block Patients Using Electrocardiogram: A Deep Learning Approach with Limited Data

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    Left ventricular systolic dysfunction (LVSD) is associated with increased mortality and is sometimes reversible when found early. Artificial intelligence (AI)-enabled electrocardiogram (ECG) has emerged as an efficient screening tool for LVSD, but has not been validated in left bundle branch block (LBBB) patients. The clinical significance of developing an AI prediction model for LBBB patients lies in the fact that LBBB can be a cause, consequence, or both of LVSD. This pilot study was designed to develop an AI model for LVSD detection in the LBBB population using a limited dataset. ECG data from 508 patients with sinus rhythm and LBBB were labeled based on an LVSD threshold of 35%. To enhance the performance of a model derived from such a small and skewed dataset, we combined an autoencoder-based anomaly detection model with a convolutional neural network (CNN). We used a lead-wise ensemble technique for the final classification. Experimental results showed an accuracy of 0.81, precision of 0.87, recall of 0.56, and an area under the receiver operating characteristic curve of 0.75 in LVSD prediction among LBBB patients. Despite the limited dataset size, our study findings suggest the potential of deep learning techniques in detecting LVSD in patients with LBBB

    Systematic Review: Effectiveness of Carbon Dioxide Lasers for Treatment of Adult Laryngeal Hemangioma

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    <jats:sec><jats:title>Importance</jats:title><jats:p> Adult laryngeal hemangiomas are rare and may cause symptoms such as dysphonia, dysphagia, and dyspnea. Carbon dioxide (CO2) lasers offer an alternative approach to managing this rare condition. </jats:p></jats:sec><jats:sec><jats:title>Objective</jats:title><jats:p> The objective of this study is to evaluate the effectiveness of CO2 lasers in treating adult hemangioma and to identify potential side effects associated with this treatment modality. </jats:p></jats:sec><jats:sec><jats:title>Design/Methods</jats:title><jats:p> The study utilizes the PRISMA model to systematically collect articles available in the current literature. The numbers obtained from each academic manuscript were then used to calculate the effectiveness of CO2 laser therapy in patients with laryngeal hemangiomas. Articles from 1949 to 2023 were gathered using the PRISMA systematic review method. </jats:p></jats:sec><jats:sec><jats:title>Setting</jats:title><jats:p> Not applicable </jats:p></jats:sec><jats:sec><jats:title>Participants</jats:title><jats:p> Adult patients with laryngeal hemangioma who were treated with CO2 lasers. </jats:p></jats:sec><jats:sec><jats:title>Intervention or Exposures</jats:title><jats:p> Surgical management with CO2 lasers. </jats:p></jats:sec><jats:sec><jats:title>Main Outcome Measures</jats:title><jats:p> Number of patients with at least a 50% reduction in laryngeal hemangioma size. </jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p> Two case reports, 4 case series, and 2 observational studies were included in this systematic review. For the case reports and series, only 1 out of the 19 patients experienced recurrence following CO2 laser treatment. However, some studies did not have adequate follow-up time. In the 2 observational studies, efficacy rates of 100% and 90.9% were reported by the authors respectively. </jats:p></jats:sec><jats:sec><jats:title>Conclusion and Relevance</jats:title><jats:p> Adult laryngeal hemangioma can be safely and successfully treated with CO2 laser microsurgery in well-selected cases. More studies, as well as longer patient follow-ups, are needed to truly assess the efficacy of CO2 laser in treating laryngeal hemangioma. This method provides a minimally invasive technique for adult patients with this rare disease. </jats:p></jats:sec&gt

    Phenotypic diversity of CTCs and tdEVs in liquid biopsies of tumour-draining veins is linked to poor prognosis in colorectal cancer

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    <jats:title>Abstract</jats:title><jats:sec> <jats:title>Background</jats:title> <jats:p>Circulating tumour cells (CTCs) and tumour-derived extracellular vesicles (tdEVs) have great potential for monitoring therapy response and early detection of tumour relapse, facilitating personalized adjuvant therapeutic strategies. However, their low abundance in peripheral blood limits their informative value. In this study, we explored the presence of CTCs and tdEVs collected intraoperatively from a tumour-draining vein (DV) and via a central venous catheter (CVC) prior to tumour resection.</jats:p> </jats:sec><jats:sec> <jats:title>Methods</jats:title> <jats:p>CellSearch analyses of 395 blood samples from 306 patients with gastrointestinal tumours and 93 blood samples from healthy donors were used to establish and validate gates for the automated detection of CTCs and tdEVs with ACCEPT software and R scripts. The selected gate settings were applied to 227 samples of 142 patients with colorectal cancer (CRC) from two independent collectives. Phenotypic features were obtained via numeric analysis of their fluorescence signals (e.g. size, shape, and intensity) and were used for calculating diversity using Shannon index (SI) of clusters generated via the k-means algorithm after Uniform Manifold Approximation and Projection (UMAP) pre-processing, and standard deviation (SD).</jats:p> </jats:sec><jats:sec> <jats:title>Results</jats:title> <jats:p>CTCs and tdEVs were more abundant in the DV samples compared to CVC samples (<jats:italic>p</jats:italic> < 0.05). tdEVs were detected in higher numbers than CTCs in both compartments. Importantly, tdEVs in CVCs were associated with tumor spread, whereas CTCs in DVs were linked to tumor size. In both compartments, the prognostic value of tdEVs for overall survival (OS) surpassed that of CTCs, as demonstrated by univariate, multivariate, and Kaplan-Meier analyses. CTCs and tdEVs in DVs were phenotypically distinct, being larger, more eccentric, and displaying stronger cytokeratin intensities (<jats:italic>p</jats:italic> < 0.05) compared to those in CVC samples. Furthermore, increased diversity in CTC and tdEV phenotypes was significantly associated with shorter survival, validating the prognostic relevance of the SD-diversity metric.</jats:p> </jats:sec><jats:sec> <jats:title>Conclusion</jats:title> <jats:p>Our study demonstrates that DV sampling significantly enhances the detection of prognostically relevant CTCs and tdEVs in CRC patients, underscoring the superior prognostic significance of tdEVs compared to CTCs. Importantly, the combined phenotypic diversity of both markers emerges as a more powerful biomarker than their enumeration alone. These findings suggest that comprehensive, automated analysis of CTCs and tdEVs in DVs may open new avenues for tailoring individualized therapies in CRC patients.</jats:p> </jats:sec&gt

    Closing the phenotyping gap with non-invasive belowground field phenotyping

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    <jats:p>Abstract. Breeding climate-robust crops is one of the needed pathways for adaptation to the changing climate. To speed up the breeding process, it is important to understand how plants react to extreme weather events such as drought or waterlogging in their production environment, i.e. under field conditions in real soils. Whereas a number of techniques exist for aboveground field phenotyping, simultaneous non-invasive belowground phenotyping remains difficult. In this paper, we present the first data set of the new HYDRAS (HYdrology, Drones and RAinout Shelters) open-access field-phenotyping infrastructure, bringing electrical resistivity tomography, alongside drone imagery and environmental monitoring, to a technological readiness level closer to what breeders and researchers need. This paper investigates whether electrical resistivity tomography (ERT) provides sufficient precision and accuracy to distinguish between belowground plant traits of different genotypes of the same crop species. The proof-of-concept experiment was conducted in 2023, with three distinct soybean genotypes known for their contrasting reactions to drought stress. We illustrate how this new infrastructure addresses the issues of depth resolution, automated data processing, and phenotyping indicator extraction. The work shows that electrical resistivity tomography is ready to complement drone-based field-phenotyping techniques to accomplish whole-plant high-throughput field phenotyping. </jats:p&gt

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