Blog Archive

Αλέξανδρος Γ. Σφακιανάκης

Monday, December 19, 2022

Molecular heterogeneity of pediatric choroid plexus carcinomas determines the distinctions in clinical course and prognosis

alexandrossfakianakis shared this article with you from Inoreader
Abstract
Background
Choroid plexus carcinomas (CPCs) are rare aggressive pediatric tumors of the brain with no treatment standards. Genetic profiling of CPCs is often confined to possible association with Li–Fraumeni syndrome, though only about a half of CPCs develop from syndromic predispositions. Whole-chromosome gains and losses typical of CPCs reflect genomic instability of these tumors, but only partially explain the aggressive clinical course.
Methods
This retrospective study enrolled 25 pediatric patients with CPC, receiving treatment between January 2009 and June 2022. Molecular genetic testing was performed for 20 cases with available tumor tissue and encompassed mutational status, chromosomal aberrations and gene expression profiles. We analyzed several factors presumably influencing the outcomes, including molecular profiles and clinical parameters. The median follow-up constituted 5.2 years (absolute range 2.8–12.6 years ).
Results
All studied CPCs had smooth mutational profiles with the only recurrent event being TP53 variants, either germline or somatic, encountered in 13 cases. Unbalanced whole-chromosome aberrations, notably multiple monosomies, were highly typical. In seven tumors, chromosome losses were combined with complex genomic rearrangements: segmental gains and losses or signs of chromothripsis. This phenomenon was associated with extremely low 5-year survival: 20.0±17.9% vs. 85.7±13.2%; p=0.009. Transcriptomically, the cohort split into two polar clusters Ped_CPC1 and Ped_CPC2 differing by survival: 31.3±17.8% vs. 100%; p=0.012.
Conclusion
CPCs split into at least two molecular subtypes distinguished both genomically and transcriptomically. Clusterization of the tumors into Ped_CPC1 and Ped_CPC2 significantly correlates with survival. The distinct ion may prove relevant in clinical trials for dedicated and patient-oriented optimization of clinical protocols for these rare tumors.
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Sunday, December 18, 2022

Impact of SARS-CoV-2 variants on inpatient clinical outcome

alexandrossfakianakis shared this article with you from Inoreader
Abstract
Background
Prior observation has shown differences in COVID-19 hospitalization risk between SARS-CoV-2 variants, but limited information describes hospitalization outcomes.
Methods
Inpatients with COVID-19 at five hospitals in the eastern United States were included if they had hypoxia, tachypnea, tachycardia, or fever, and SARS-CoV-2 variant data, determined from whole genome sequencing or local surveillance inference. Analyses were stratified by history of SARS-CoV-2 vaccination or infection. The average effect of SARS-CoV-2 variant on 28-day risk of severe disease, defined by advanced respiratory support needs, or death was evaluated using models weighted on propensity scores derived from baseline clinical features.
Results
Severe disease or death within 28 days occurred for 977 (29%) of 3,369 unvaccinated patients and 269 (22%) of 1,230 patients with history of vaccination or prior SARS-CoV-2 infection. Among unvac cinated patients, the relative risk of severe disease or death for Delta variant compared to ancestral lineages was 1.30 (95% confidence interval [CI] 1.11-1.49). Compared to Delta, this risk for Omicron patients was 0.72 (95% CI 0.59-0.88) and compared to ancestral lineages was 0.94 (95% CI 0.78-1.1). Among Omicron and Delta infections, patients with history of vaccination or prior SARS-CoV-2 infection had half the risk of severe disease or death (adjusted hazard ratio 0.40, 95% CI 0.30-0.54), but no significant outcome difference by variant.
Conclusions
Although risk of severe disease or death for unvaccinated inpatients with Omicron was lower than Delta, it was similar to ancestral lineages. Severe outcomes were less common in vaccinated inpatients, with no difference between Delta and Omicron infections.
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Comparison of 4‐ or 6‐implant supported immediate full‐arch fixed prostheses: A retrospective cohort study of 217 patients followed up for 3–13 years

alexandrossfakianakis shared this article with you from Inoreader

Abstract

Purpose

Choosing four or six implants to support immediate full-arch fixed prostheses (FAFPs) is still controversial worldwide. This study aims to analyze and compare the long-term results of All-on-4 and All-on-6.

Materials and Methods

This retrospective cohort study enrolled 217 patients rehabilitated with 1222 implants supporting 271 FAFPs, including 202 prostheses supported by 4 implants (All-on-4 group) and 69 prostheses supported by 6 implants (All-on-6 group), and followed up for 3–13 years. Implant survival, prosthesis survival, complications, and implant marginal bone loss (MBL) were evaluated and compared between two groups. Patient characteristics including age, gender, jaw, opposite dentition condition, smoking habit, bruxism, bone quantity and quality, cantilever length (CL), prosthesis material, and oral hygiene were analyzed to assess their influence on the clinical results of the two groups. Six surgeons and three prosthodontists who performed FAFPs more than 5 years were invited for questionnaires, to assess patient- and clinician-related influences on implant number.

Result

In general, All-on-4 group indicated no significant difference with All-on-6 group in the implant survival (implant-level: hazard ratio [HR] = 1.0 [95% confidence interval (CI): 0.8–1.2], P = 0.96; prosthesis-level: HR = 0.8 [95% CI: 0.3–1.8], P = 0.54), prosthesis survival (odds ratio [OR] = 0.8 [95% CI: 0.3–2.8], P = 0.56), biological complications (OR = 0.9 [95% CI: 0.5–1.8], P = 0.78), technical complications of provisional prosthesis (OR = 1.3 [95% CI: 0.7–2.3], P = 0.42), technical complications of definitive prosthesis (OR = 1.1 [95% CI: 0.6–2.2], P = 0.33) and the 1st, 5th, and 10th year MBL (P = 0.65, P = 0.28, P = 0.14). However, for specific covariates, including elderly patients, opposing natural/fixed dentition, smoking, bruxism, long CL, low bone density, and all acrylic provisional prostheses, All-on-6 was more predictable in some clinical measurements than All-on-4. The implant prosthodontists and the medium-experienced clinicians showed significant preference for All-on-6 (P < 0.05).

Conclusion

Based on this study, the long-term clinical results showed no significant difference between All-on-4 and All-on-6 groups in general. However, for some specific characteristics, All-on-6 seemed to be more predictable in some clinical measurements than All-on-4. For the clinicians' decision-making, medium-experienced clinicians and the implant prosthodontists showed significant preference for All-on-6.

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Synthetic CT in Musculoskeletal Disorders: A Systematic Review

alexandrossfakianakis shared this article with you from Inoreader
imageRepeated computed tomography (CT) examinations increase patients' ionizing radiation exposure and health costs, making an alternative method desirable. Cortical and trabecular bone, however, have short T2 relaxation times, causing low signal intensity on conventional magnetic resonance (MR) sequences. Different techniques are available to create a "CT-like" contrast of bone, such as ultrashort echo time, zero echo time, gradient-echo, and susceptibility-weighted image MR sequences, and artificial intelligence. This systematic review summarizes the essential technical background and developmen ts of ultrashort echo time, zero echo time, gradient-echo, susceptibility-weighted image MR imaging sequences and artificial intelligence; presents studies on research and clinical applications of "CT-like" MR imaging; and describes their main advantages and limitations. We also discuss future opportunities in research, which patients would benefit the most, the most appropriate situations for using the technique, and the potential to replace CT in the clinical workflow.
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Synthetic Contrasts in Musculoskeletal MRI: A Review

alexandrossfakianakis shared this article with you from Inoreader
imageThis review summarizes the existing techniques and methods used to generate synthetic contrasts from magnetic resonance imaging data focusing on musculoskeletal magnetic resonance imaging. To that end, the different approaches were categorized into 3 different methodological groups: mathematical image transformation, physics-based, and data-driven approaches. Each group is characterized, followed by examples and a brief overview of their clinical validation, if present. Finally, we will discuss the advantages, disadvantages, and caveats of synthetic contrasts, focusing on the preservation of im age information, validation, and aspects of the clinical workflow.
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Quantitative MRI for Evaluation of Musculoskeletal Disease: Cartilage and Muscle Composition, Joint Inflammation, and Biomechanics in Osteoarthritis

alexandrossfakianakis shared this article with you from Inoreader
imageMagnetic resonance imaging (MRI) is a valuable tool for evaluating musculoskeletal disease as it offers a range of image contrasts that are sensitive to underlying tissue biochemical composition and microstructure. Although MRI has the ability to provide high-resolution, information-rich images suitable for musculoskeletal applications, most MRI utilization remains in qualitative evaluation. Quantitative MRI (qMRI) provides additional value beyond qualitative assessment via objective metrics that can support disease characterization, disease progression monitoring, or therapy response. In t his review, musculoskeletal qMRI techniques are summarized with a focus on techniques developed for osteoarthritis evaluation. Cartilage compositional MRI methods are described with a detailed discussion on relaxometric mapping (T2, T2*, T1ρ) without contrast agents. Methods to assess inflammation are described, including perfusion imaging, volume and signal changes, contrast-enhanced T1 mapping, and semiquantitative scoring systems. Quantitative characterization of structure and function by bone shape modeling and joint kinematics are described. Muscle evaluation by qMRI is discussed, including size (area, volume), relaxometric mapping (T1, T2, T1ρ), fat fraction quantification, diffusion imaging, and metabolic assessment by 31P-MR and creatine chemical exchange saturation transfer. Other notable technologies to support qMRI in musculoskeletal evaluation are described, including magnetic resonance fingerprinting, ultrashort echo time imaging, ultrahigh-field MRI, and hybrid MRI-p ositron emission tomography. Challenges for adopting and using qMRI in musculoskeletal evaluation are discussed, including the need for metal artifact suppression and qMRI standardization.
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Brachial Plexus Magnetic Resonance Neurography: Technical Challenges and Solutions

alexandrossfakianakis shared this article with you from Inoreader
imageMagnetic resonance neurography of the brachial plexus (BP) is challenging owing to its complex anatomy and technical obstacles around this anatomic region. Magnetic resonance techniques to improve image quality center around increasing nerve-to-background contrast ratio and mitigating imaging artifacts. General considerations include unilateral imaging of the BP at 3.0 T, appropriate selection and placement of surface coils, and optimization of pulse sequences. Technical considerations to improve nerve conspicuity include fat, vascular, and respiratory artifact suppression techniques; metal ar tifact reduction techniques; and 3-dimensional sequences. Specific optimization of these techniques for BP magnetic resonance neurography greatly improves image quality and diagnostic confidence to help guide nonoperative and operative management.
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