Two Different Pathogenic Variants in a Family With Neurofibromatosis Type 1.

Background/aim: Neurofibromatosis type 1 (NF1) is a genetic disorder with an incidence of approximately one in 3,000. More than half of the patients have new de novo pathogenic variants of the NF1 gene. In most family cases, all family members share an identical NF1-variant.

The multifaceted nature of Egyptian mummification: Paleoradiological insights into child mummies.

In accordance with ancient Egyptian beliefs, the preservation of the body after death was an important prerequisite for the continued existence of the deceased in the afterlife. This involved application of various physical interventions and magical rituals to the corpse. Computed tomography (CT), as the gold-standard technology in the field of paleoradiology, enables deeper insights into details of artificial body preservation.

Weak Spots in Semiconductor Nanoplatelets: From Isolated Defects Toward Directed Nanoscale Assemblies.

The chemical engineering of nanostructures with atomic-scale precision is a fundamental scientific challenge. Cation exchange reactions in nanoplatelets (NPLs) offer an attractive platform for this precision chemistry, as it is relatively simple to carry out, extremely versatile, and allows the production of heterogeneous nanostructures that cannot be produced by any other means. A major hindrance has, however, been the lack of knowledge of the "weak spots" of the platelets where the ionic exchange reaction is initiated to optimally control the process toward directed nanoscale assemblies.

Implementation of the new DGRh S2e guideline on diagnostics and treatment of adult-onset Still's disease in Germany : Implications for clinical practice in rheumatology.

Background: Adult-onset Still's disease (AOSD) is a rare autoinflammatory disease. Since it can lead to variable organ involvement, including life-threatening complications, and due to newly available therapeutic approaches, the German Society for Rheumatology and Clinical Immunology (Deutsche Gesellschaft für Rheumatologie und klinische Immunologie; DGRh) issued a newly developed S2e guideline in December 2022.

Objective: This study aims to investigate the influence of the new guideline on the diagnosis, management, and outcomes of AOSD.

Heavy Atom Cluster Chains with Strong Spin-Orbit Coupling and Magnetic Cations in Mn[PtBiI].

In the search for new magnetic topological insulators with strong spin-orbit coupling, by following conceptual considerations that have already proven to be suitable, the bismuth-rich subiodide Mn[PtBiI] was discovered. Single crystals were grown from mixtures of the elements and BiI using a temperature program developed on the basis of thermal analyses. Single-crystal X-ray diffraction revealed a rhombohedral structure of the cuboctahedral cluster anions [PtBiI], which are linked into chains via octahedrally coordinated Mn cations.

Case Report: Surgical Decompression With Subsequent Selumetinib Treatment Leads to Drastic Clinical Improvement in a Patient With a Large Spinal Plexiform Neurofibroma.

Background/aim: Plexiform neurofibromas are the hallmark of neurofibromatosis type 1, an autosomal dominantly inherited multisystem disorder. Spinal plexiform neurofibromas can particularly cause severe neurological symptoms. Treatment options are limited due to invasive growth, and targeted therapy with selumetinib is only approved for inoperable tumors in children.

Retinol-binding protein type 1 expression predicts poor prognosis in head and neck squamous cell carcinoma.

Background: Head and neck squamous cell carcinoma (HNSCC) is the sixth most prevalent malignancy worldwide, with high incidence and poor survival rates. RBP1 is highly expressed in several kinds of cancer and plays a potential prognostic factor. However, the relationship between RBP1 and HNSCC were analyzed based on The Cancer Genome Atlas (TCGA) database.

Nanosecond infrared laser (NIRL) for cutting roots of human teeth: thermal effects and quality of cutting edges.

A nanosecond infrared laser (NIRL) was investigated in cutting dental roots. The focus of the investigation was defining the preparation accuracy and registration of thermal effects during laser application. Ten teeth were processed in the root area using a NIRL in several horizontal, parallel incisions to achieve tooth root ablation as in an apicoectomy.

Three-dimensional anatomical analysis of the optic nerve canal with virtual model based on CBCT.

The optic nerve canal (ONC) is a fine skeletal structure that contains the optic nerve. However, it has not been thoroughly examined. This necessitates establishing a baseline knowledge of the geometrical and volumetric parameters of the ONC.

The Role of 25-OH Vitamin D in Alzheimer's Disease through Mendelian Randomization and MRI.

Introduction: The mechanism underlying the relationship between Alzheimer's disease (AD) and minerals (serum calcium, copper, iron, magnesium, zinc), vitamins (25-OH vitamin D, vitamin A1 [retinol], B9 [folic acid], B12, C) is unclear.

Methods: In a two-step Mendelian randomization analysis, the association between positive nutritional elements and 3935 MRI phenotypes was examined, and the mediation proportion was calculated. Horizontal pleiotropy and heterogeneity of Mendelian randomisation were assessed using MR-Egger, Cochran's Q test, MR-PRESSO.

The role of herpes simplex virus infection in the etiology of head and neck cancer-a Mendelian randomization study.

Introduction: Head and neck cancer (HNC) is a complex disease, and multiple risk factors can lead to its progression. Observational studies indicated that herpes simplex virus (HSV) may be correlated with the risk of HNC. However, the causal effects and direction between them were still unclear.

Electrophile Determines Cellular Phenotypes among XPO1-Targeting Small Molecules.

Covalent drug discovery has experienced a renaissance, with numerous electrophilic small molecules recently gaining FDA approval. Many structurally diverse electrophilic small molecules target exportin-1 (XPO1/CRM1) at cysteine 528, including the selective inhibitor of nuclear export (SINE) selinexor, which was FDA-approved as an anticancer agent in 2019. Emerging evidence supports additional pharmacological classes of XPO1 modulators targeting Cys528, including the selective inhibitors of transcriptional activation (SITAs) and probes that induce rapid degradation of XPO1.

C646 degrades Exportin-1 to modulate p300 chromatin occupancy and function.

Molecular glues can induce proximity between a target protein and ubiquitin ligases to induce target degradation, but strategies for their discovery remain limited. We screened 3,200 bioactive small molecules and identified that C646 requires neddylation-dependent protein degradation to induce cytotoxicity. Although the histone acetyltransferase p300 is the canonical target of C646, we provide extensive evidence that C646 directly targets and degrades Exportin-1 (XPO1).

Gallium-containing mesoporous nanoparticles influence in-vitro osteogenic and osteoclastic activity.

Mesoporous silica nanoparticles were synthesized using a microemulsion-assisted sol-gel method, and calcium, gallium or a combination of both, were used as dopants. The influence of these metallic ions on the physicochemical properties of the nanoparticles was investigated by scanning and transmission electron microscopy, as well as N adsorption-desorption methods. The presence of calcium had a significant impact on the morphology and textural features of the nanoparticles.

Hotspot Mutations in Saliva as a Diagnostic Marker in Oral Squamous Cell Carcinoma Patients.

Background/aim: This study aimed at the analogous detection of PIK3CA mutations, common in oral squamous cell carcinoma (OSCC), in matched tumor and saliva samples.

Patients And Methods: Tissue and saliva samples were obtained from 29 patients diagnosed with primary OSCC. Saliva samples were obtained preoperatively; tissue specimens were acquired during tumor resection.

Retracing RAS signaling by correlating protein expression in different subtypes of neurofibromatosis 1-associated nerve sheath tumors.

Aims: Expression patterns of key proteins involved in RAS signaling and connected pathways were determined and correlated to possibly provide information for therapeutic application of RAS inhibitors in neurofibromatosis type 1 (NF1)-associated peripheral nerve sheath tumors (PNST).

Materials And Methods: Clinical variables (age, sex), histological parameters (cell density, mitoses), and expression of immunohistochemically evaluated ligand and receptor proteins (neuregulin 1 (NRG1), ErbB2, ErbB3), RAS pathway proteins (mTor, Rho, phosphorylated MEK), transcription factors (Pax7, Sox9), and proliferation marker Ki-67, were correlated in cutaneous (CNF, n = 136), diffuse (DNF, n = 123)/diffuse plexiform (DPNF, n = 113), and plexiform neurofibroma (PNF, n = 126), and in malignant PNST (MPNST, n = 22).

Results: In CNF, NRG1 correlated with Ki-67 and Pax7.

Network of large pedigrees reveals social practices of Avar communities.

From AD 567-568, at the onset of the Avar period, populations from the Eurasian Steppe settled in the Carpathian Basin for approximately 250 years. Extensive sampling for archaeogenomics (424 individuals) and isotopes, combined with archaeological, anthropological and historical contextualization of four Avar-period cemeteries, allowed for a detailed description of the genomic structure of these communities and their kinship and social practices. We present a set of large pedigrees, reconstructed using ancient DNA, spanning nine generations and comprising around 300 individuals.

Raman difference spectroscopy and U-Net convolutional neural network for molecular analysis of cutaneous neurofibroma.

In Neurofibromatosis type 1 (NF1), peripheral nerve sheaths tumors are common, with cutaneous neurofibromas resulting in significant aesthetic, painful and functional problems requiring surgical removal. To date, determination of adequate surgical resection margins-complete tumor removal while attempting to preserve viable tissue-remains largely subjective. Thus, residual tumor extension beyond surgical margins or recurrence of the disease may frequently be observed.

Dental Developmental Stages and Decayed, Missing, and Restored Teeth in Neurofibromatosis Type 1-affected Children and Adolescents.

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited tumor predisposition disease with a highly variable phenotype. The influence of the characteristic NF1 tumors (neurofibromas) on dentition has not yet been examined in detail. The aim of the study was to assess the dentition of NF1 children and adolescents, considering the symmetry of tooth development.

How to make full use of dental pulp stem cells: an optimized cell culture method based on explant technology.

Introduction: Dental pulp stem cells from humans possess self-renewal and versatile differentiation abilities. These cells, known as DPSC, are promising for tissue engineering due to their outstanding biological characteristics and ease of access without significant donor site trauma. Existing methods for isolating DPSC mainly include enzyme digestion and explant techniques.

Magnetic State Control of Non-van der Waals 2D Materials by Hydrogenation.

Controlling the magnetic state of two-dimensional (2D) materials is crucial for spintronics. By employing data-mining and autonomous density functional theory calculations, we demonstrate the switching of magnetic properties of 2D non-van der Waals materials upon hydrogen passivation. The magnetic configurations are tuned to states with flipped and enhanced moments.

Multiple central giant cell granuloma of the jaws: diagnostic signposts of Noonan syndrome and RASopathy.

Noonan syndrome (NS) is a phenotypically variable inherited multi-system disorder. Maxillofacial findings can be diagnostic, especially in the evaluation of discrete facial dysmorphia. Diagnostic landmark findings of therapeutic relevance for the jaws such as central giant cell granuloma (CGCG) are rare in NS.