Background/Objectives: Heterozygous variants in the heterogeneous nuclear ribonucleoprotein C gene (HNRNPC) have recently been reported to cause intellectual developmental disorder-74 (MRD74), a neurodevelopmental disorder with no recurrent diagnostic handles. Affected individuals show variable, non-specific, and subtle dysmorphic features. The degree of developmental delay (DD)/intellectual disability (ID) is also wide, ranging from mild to severe. The mutational spectrum is relatively broad with exon deletions and splice site and frameshift variants distributed along the entire length of the gene leading to HNRNPC loss of function. Only two missense changes located within the RNA-binding motif (RBM) and adjacent linker region of the more abundant isoform (Arg64Trp and Arg99Gln) have been described. Notably, the Arg99Gln amino acid substitution was reported in a subject presenting with a more complex and unique clinical phenotype characterized by distinctive facial features, DD/ID, cochlear aplasia, and bilateral colobomatous microphthalmia, suggesting the possible occurrence of phenotypic heterogeneity. Results: Here, we report the second individual carrying the Arg99Gln change in HNRNPC and having clinical features with a significant overlap with the peculiar phenotype of the previously described subject, supporting the occurrence of a genotype–phenotype correlation. Conclusions: Due to the concomitant occurrence of ocular and cochlear involvement as recognizable diagnostic handles, we propose that the HNRNPCArg99Gln-related phenotype should be considered as a potential differential diagnosis in subjects with ID and major signs of CHARGE syndrome not fulfilling the minimum criteria for a clinical diagnosis.

• Book : 16(2)
• Pub. Date : 2025
• Page : pp.176-176
• Keyword :

In the present study, four new species, Geastrum artocarpicola, G. fibulatum, G. sinense and G. trachelium collected from China, are proposed based on a combination of morphological characteristics and molecular evidence. Geastrum artocarpicola is characterized by shallowly saccate to deep saccate exoperidium, bubble-shaped to flask shaped basidia, spherical basidiospores. G. fibulatum is characterized by shallowly saccate to deep saccate exoperidium, spherical basidiospores, generative hyphae with clamp connections in the mycelium layer. G. sinense has arched exoperidium, long stipe expanded basidiomata, and spherical basidiospores. G. trachelium has deep saccate exoperidium, flask-shaped basidia, and spherical basidiospores. Sequences of the internal transcribed spacers (ITS), large subunit (nrLSU), the largest subunit of ribosomal polymerase II (RPB1), and subunit 6 of ATP synthase (ATP6) of the nuclear ribosomal DNA (rDNA) markers of the studied samples were generated, and the phylogenetic analyses were performed with maximum likelihood, maximum parsimony and Bayesian inference methods. The results showed that our collection clustered within Geastrum but distinctly from the others. Full morphological descriptions, illustrations, and phylogenetic analyses results for the four new species are provided. In addition, G. sanglinense is treated as a synonym of beijingense.

• Book : 113()
• Pub. Date : 2025
• Page : pp.73-100
• Keyword :

Abstract Objectives The International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis (JIA) classification was revisited by the Pediatric Rheumatology International Trials Organization (PRINTO) in 2018. Classifications should establish uniform groups to assist physicians in providing optimal care. Therefore, we evaluated changes proposed by PRINTO to highlight their impact on forming consistent groups regarding uveitis and treatment responses, particularly focusing on early-onset anti-nuclear antibody (ANA)-positive JIA. Methods Pediatric patients diagnosed with JIA according to ILAR and PRINTO classification, with a minimum of 1-year of follow-up, were enrolled, excluding those meeting the exclusion criteria for both the oligoarticular JIA and the early-onset ANA-positive JIA groups. Results Among the 139 enrolled patients, 110 (79.1%) had oligoarticular JIA, while 15 (10.8%) had early-onset ANA-positive JIA. The below-age-5 criterion demonstrated the strongest association with uveitis, while the below-age-7 provided similar associations without substantial exclusions (odds ratio (OR) 8.62 [2.50–29.81] vs 7.45 [2.37–26.66]). Patients with a single ANA positivity at a titer ≥ 1/160 and age of onset below 7 had a notably higher risk of new-onset uveitis and biologic DMARD requirement (OR 7.95 [2.37–26.66] and 3.6 [1.42–9.09], respectively). Conclusion The inclusion of age of disease onset and ANA positivity with a titer ≥ 1/160 has enhanced uniformity in uveitis risk and treatment response, including failure of conventional synthetic DMARDs. Additionally, a single ANA positivity at a ≥ 1/160 titer rather than requiring two instances yields similar consistency. However, the joint count criteria failed to form consistent groups. PRINTO’s classification places a significant proportion of patients into the “other JIA” group, necessitating further classification for improved clinical utility. Key Points•Inclusion of age and ANA positivity criteria increased uniformity among the subgroups.•Single ANA positivity at a ≥ 1/160 titer can be sufficient instead of twice.•Early utilization of bDMARDs may be beneficial for early-onset ANA-positive JIA group.•PRINTO classification must further classify the “other JIA” before being implemented in clinical practice.

• Book : ()
• Pub. Date : 2025
• Page :
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AbstractOn 21 June 2022, during the annual Geospace Environment Modeling (GEM) workshop, a panel discussion titled “Radiation Belt Loss: The Long‐Standing Debate Part II” was organized by the focus group “System Understanding of Radiation Belt Particle Dynamics.” The panel focused on unresolved questions regarding the mechanisms driving electron loss in Earth's radiation belts, discussing topics including magnetopause shadowing, outward radial transport, and wave‐particle interactions driving particle precipitation. In this commentary, we provide an overview of the outcomes of this discussion and highlight future needs to better resolve outstanding questions.

• Book : 12(2)
• Pub. Date : 2025
• Page :
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• Book : 607()
• Pub. Date : 2025
• Page : pp.155657-155657
• Keyword :

In this study, we first analyzed data from 147 patients with solitary plasmacytomas treated at the Mayo Clinic between 2005 and 2022 and then expanded our investigation through a systematic review and meta-analysis of 62 studies, encompassing 3,487 patients from the years 1960 to 2022. Our findings reveal that patients with up to 10% clonal plasma cells in their bone marrow (BM), denoted as plasmacytoma +, had a significantly reduced median disease-free survival (DFS) of 15.7 months vs. 79 months, p<0.05, observed in patients with true solitary plasmacytomas, with no clonal cells in the BM. Risk factors identified for shorter DFS included the presence of clonal plasma cells in the marrow and a DFLC > 5 mg/dl. The meta-analysis portion of our study highlighted a male predominance among patients, with a median age of 58, and confirmed radiation therapy as the predominant treatment modality. We also found that DFS rates at 3, 5, and 10 years were 66.9%, 55%, and 42.1%, respectively, and noted a significant difference in outcomes between patients with bone and extramedullary plasmacytomas, with the latter group exhibiting better survival rates. This dual-faceted approach provides a thorough overview of survival rates and critical risk factors for plasmacytoma patients, underscoring the vital role of accurate disease staging at diagnosis and the impact of tumor location on patient prognosis.

• Book : ()
• Pub. Date : 2025
• Page :
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Abstract We present a 19.7–214 μm imaging atlas of local (4–181 Mpc; median 43 Mpc) active galactic nuclei (AGN) observed with FORCAST and HAWC+ on board the SOFIA telescope with angular resolutions ~3″–20″. This atlas comprises 22 Seyferts (17 Type 2 and five Type 1) with a total of 69 images, 41 of which have not been previously published. The AGN span a range of luminosities of log 10 ( L bol [ erg s - 1 ] ) = [ 42 , 46 ] with a median of log 10 ( L bol [ erg s − 1 ] ) = 44.1 ± 1.0 . We provide the total fluxes of our sample using aperture photometry for point-source objects and a 2D Gaussian fitting for objects with extended host galaxy emission, which was used to estimate the unresolved nuclear component. Most galaxies in our sample are pointlike sources; however, four sources (Centaurus A, Circinus, NGC 1068, and NGC 4388) show extended emission in all wavelengths. The 30–40 μm extended emission in NGC 4388 is coincident with the narrow-line region at PA ~ 50°, while the dusty extension at longer wavelengths arises from the host galaxy at PA ~ 90°. Our new observations allow us to construct the best-sampled parsec-scales (spectral energy distributions, SEDs) available between 30 and 500 μm for a sample of nearby AGN. We estimate that the average peak wavelength of the nuclear SEDs is ~40 μm in νF ν , which we associate with an unresolved extended dusty region heated by the AGN.

• Book : 276(2)
• Pub. Date : 2025
• Page : pp.64-64
• Keyword :

Incomplete cuts during laser fusion cutting result in a closed kerf, preventing the workpiece from detaching from the sheet and resulting in rework or rejection. We demonstrate the approach of a vision transformer, used for image classification, to detect cut interruption during laser fusion cutting in steel and aluminum. With events impending an incomplete cut in steel, we attempt to predict cut interruption before they even occur. To build a data set for training, cutting experiments are carried out with a 4 kW fiber laser, forcing incomplete cuts by varying the process parameters such as laser power and feed rate. The thermal radiation from the process zone during the cutting process is captured with a size of 256 × 256 px2 at sample rates of 20 × 103 fps. The kerf is recorded with a spectral sensitivity between 400 and 700 nm, without external illumination, which enables the melt to be observed in the range of the visual spectrum. The vision transformer model, which is used for image classification, splits the image into patches, linearly embedded with an added position embedding, and fed to a standard transformer encoder. For training the model, a set of images was labeled for the respective classes of a complete, incomplete, and impending incomplete cut. With the trained model, incomplete cuts in steel and aluminum can then be recognized and impending incomplete cuts in steel can be predicted in advance.

• Book : 37(1)
• Pub. Date : 2025
• Page :
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• Book : ()
• Pub. Date : 2025
• Page :
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• Book : ()
• Pub. Date : 2025
• Page : pp.101730-101730
• Keyword :