52 results match your criteria: "Institute for Medical Diagnostics[Affiliation]"

Article Synopsis
  • Inherited retinal dystrophies (IRDs) are a significant cause of blindness or severe visual impairment in children, with varying symptoms and genetic associations.
  • The study analyzed data from 309 pediatric patients to determine the clinical and genetic profiles of IRDs, finding distinct patterns in preschoolers versus school-aged children.
  • Preschoolers exhibited symptoms like nystagmus and established genetic variants linked to isolated and syndromic forms of IRDs, while school-aged children largely showed declining visual acuity and a higher prevalence of cone-dominated diseases.
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Background: Platelet-rich fibrin (PRF) blood concentrates are used in oral implantology and defect surgery to promote osteoneogenesis in Bone Marrow Defects in Jawbone (BMDJ), according to the morphology of fatty-degenerative osteonecrosis also called FDOJ.

Question: Can the benefit of PRF on alveolar osteoneogenesis be confirmed by cytokine analysis?.

Methods: The cytokine expressions of the PRF samples in 26 patients undergoing BMDJ/FDOJ surgery in the same session were analysed for seven cytokines (RANTES/CCL5; FGF-2; IL-1RA; Il-6; IL-8; MCP-1; TNF-a) by multiplex (Luminex).

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Genomic resources are important for evaluating genetic diversity and supporting conservation efforts. The garden dormouse () is a small rodent that has experienced one of the most severe modern population declines in Europe. We present a high-quality haplotype-resolved reference genome for the garden dormouse, and combine comprehensive short and long-read transcriptomics data sets with homology-based methods to generate a highly complete gene annotation.

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Background/objective: Endoprostheses might fail due to complications such as implant loosening or periprosthetic infections. The surface topography of implant materials is known to influence osseointegration and attachment of pathogenic bacteria. Laser-Induced Periodic Surface Structures (LIPSS) can improve the surface topography of orthopedic implant materials.

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The time required for genome sequencing and assembly depends on the interaction between laboratory work, sequencing capacity, and the bioinformatics workflow, often constrained by external sequencing services. Bringing together academic biodiversity institutes and a medical diagnostics company with extensive sequencing capabilities, we aimed at generating a high-quality mammalian genome in minimal time. We present the first chromosome-level genome assembly of the Whippet, using PacBio long-read high-fidelity sequencing and reference-guided scaffolding.

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Introduction: Osteoimmunology recognizes the relationship between bone cells and immune cells. Chronic osteoimmune dysregulation is present in bone marrow defects of the jaw (BMDJ) as fatty-degenerative osteonecrosis (FDOJ). In comparison to samples from healthy jaw bone, the cytokine analysis of samples of BMDJ/FDOJ from 128 patients showed downregulated TNF-α and IL-6 expression and the singular overexpression of the chemokine RANTES/CCL5.

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The gadolinium-based contrast agent DOTA-Gd is clinically used in combination with local anesthetics for direct magnetic resonance arthrography. It remains unclear whether gadolinium uptake into cartilage is influenced by co-administration of bupivacaine or ropivacaine and whether DOTA-Gd alters their chondrotoxicity. Gadolinium quantification of chondrogenic spheroids revealed enhanced gadolinium uptake after simultaneous exposure to local anesthetics.

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BACKGROUND Familial hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder (OMIM# 602014) caused by mutations in the gene encoding transient receptor potential melastatin 6 (TRPM6)) on chromosome 9q22, a channel involved in epithelial magnesium resorption. While a plethora of studies have delineated various clinical manifestations pertinent to this mutation, the literature is devoid of connections between TRPM6 mutations and bleeding diathesis, or sudden infant death syndrome (SIDS). This report presents a case of familial HSH associated with the novel homozygous TRPM6 gene variant c.

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Objective: Bone marrow defects of the jaw (BMDJ) surrounding dental implants, in combination with impaired bone-to-implant contact (BIC), are difficult to detect in X-rays. This study evaluated BMDJ surrounding titanium (Ti-Impl) and ceramic (Cer-Impl) dental implants and incomplete BIC using a new trans-alveolar ultrasonography device (TAU) with numerical scaling for BIC.

Methods: The titanium stimulation test (Ti-Stim) was used to detect immune overactivation in response to titanium.

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Article Synopsis
  • Embryonic development relies on precise DNA processes, and mutations in repair genes can cause neurodevelopmental disorders with symptoms like microcephaly and short stature.
  • Researchers identified genetic variants in SLF2 and SMC5 from the RAD18-SLF1/2-SMC5/6 pathway in patients with developmental issues, including abnormal chromosomes and anemia.
  • The new disorder, named Atelís Syndrome, demonstrates heightened replication stress and difficulties with specific DNA structures, emphasizing the crucial role of the SLF2-SMC5/6 pathway in preserving genome stability.
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ERF-related craniosynostosis syndrome type 4 (CRS4, OMIM #600775) is a rare autosomal dominant malformation syndrome, caused by pathogenic variants in the ERF gene and characterized by craniosynostosis, developmental delay, and dysmorphic features such as hypertelorism, exophthalmos, depressed nasal bridge, and retrognathia. So far, there are mostly individual reports and only a few descriptions of families with more than two affected patients, allowing statements about the penetrance of a certain variant and its variability only to a limited extent. In this study, we report an in-depth analysis of the clinical course of six family members from three generations with the novel heterozygous nonsense variant c.

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Background: The role played by signaling pathways in the cell-cell communication associated with multiple sclerosis (MS) progression has become a critical area in research. Chemokine RANTES (regulated upon activation, normal T-cell expressed and secreted), also named chemokine C-C motif ligand 5 (CCL5; R/C), is a protein that has been investigated in neuroinflammatory research due to its link to MS development.

Objective: Research on bone marrow defects in the jawbone (BMDJ), which morphologically presents as fatty-degenerative osteonecrosis of the jawbone (FDOJ), presents overexpression of R/C signaling in affected areas.

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Background: Cytokines, especially chemokines, are of increasing interest in immunology. This study characterizes the little-known phenomenon of "bone marrow defects of the jawbone" (BMDJ) with known overexpression of the chemokine RANTES/CCL5 (R/C).

Purpose: Our investigation clarifies why BMDJ and the intensity of local R/C overexpression are challenging to detect, as examined in patients with seven different systemic immunological diseases.

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Background: The role of signaling pathways as part of the cell-cell communication within cancer progression becomes a crucial area. Chemokine RANTES (regulated upon activation, normal T-cell expressed and secreted), also known as the chemokine C-C motif ligand 5 (CCL5) (R/C), is a protein on which cancer research focus due to its link with aggressive cancer development.

Objective: Research on fatty-degenerative osteonecrosis in jawbone (FDOJ) shows striking overexpression of R/C in these areas.

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Introduction: Bisphosphonate (BP)-related osteonecrosis of the jaw (BRONJ) is a complication of intravenous (IV) BP therapy. BP therapy locally affects the dentoalveolar area, while systemic effects are associated with parenteral/IV BP use. Despite numerous publications, the pathogenesis of BRONJ is not fully understood, as only some patients receiving IV BPs develop BRONJ.

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Article Synopsis
  • * Using advanced synchrotron X-ray technology, the researchers analyzed the multi-elemental composition of peri-implant tissues, finding that cobalt (Co) and chromium (Cr) particles are present, while titanium (Ti) particles predominantly consist of titanium dioxide.
  • * The findings suggest that Co and Cr can accumulate in the bone marrow and affect the surrounding bone structure, highlighting the need for reevaluating the long-term impacts of metal implants on human health.
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Introduction: The presently used impulse echo ultrasound examination is not suitable to provide relevant and reliable information about the jawbone, because ultrasound (US) almost completely reflects from the hard cortical jawbone. At the same time, "focal osteoporotic bone marrow defects" (BoneMarrowDefects = BMD) in jawbone are the subject of scientific presentations and discussions.

Purpose: Can a newly developed trans-alveolar ultrasonic sonography (TAU-n) device locate and ascertain BMD?

Patients And Methods: TAU-n consists of a two-part handpiece with an extraoral ultrasound transmitter and an intraoral ultrasound receiver.

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DRH1 - a novel blood-based HPV tumour marker.

EBioMedicine

June 2020

Department of Otorhinolaryngology-Head&Neck Surgery, Medical University of Graz, Auenbruggerplatz 26, 8036 Graz, Austria.

Background: To date, no studies have successfully shown that a highly specific, blood-based tumour marker to detect clinically relevant HPV-induced disease could be used for screening, monitoring therapy response or early detection of recurrence. This study aims to assess the clinical performance of a newly developed HPV16-L1 DRH1 epitope-specific serological assay.

Methods: In a multi-centre study sera of 1486 patients (301 Head and Neck Squamous Cell Carcinoma (HNSCC) patients, 12 HIV+ anal cancer patients, 80 HIV-positive patients, 29 Gardasil-9-vaccinees, 1064 healthy controls) were tested for human HPV16-L1 DRH1 antibodies.

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The diagnosis of coronavirus disease 2019 (COVID-19) is mainly based on a positive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) polymerase chain reaction (PCR) result. PCR samples are obtained from upper or lower respiratory tract specimens. However, the sensitivity of PCR is known to have some limitations.

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Background: Fatty degenerative osteonecrosis in the medullary spaces of the jawbone (FDOJ) may be identified as a lesser known source of RANTES/CCL5 (R/C) overexpression. The chemokine R/C also interferes with bone metabolism leading to osteolysis in areas affected by FDOJ. Many dental surgeries require functioning repair mechanisms and these may be disrupted by R/C overexpression.

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Delayed type hypersensitivity (DTH) reactions are considered infrequent complications in arthroplasty, but have been recognized to be associated with devastating morbidity and substantial decrease in quality of life of affected patients. Chronic inflammation of artificial joints and associated loss of peri-implant bone often require revision surgery. Methods for the diagnosis of implant-related DTH are available but infrequently considered to the full extent.

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Bacterial meningitis is a life-threatening disease that evokes an intense neutrophil-dominated host response to microbes invading the subarachnoid space. Recent evidence indicates the existence of combinatorial V(D)J immune receptors in neutrophils that are based on the T cell receptor (TCR). Here, we investigated expression of the novel neutrophil TCRαβ-based V(D)J receptors in cerebrospinal fluid (CSF) from human patients with acute-phase bacterial meningitis using immunocytochemical, genetic immunoprofiling, cell biological, and mass spectrometric techniques.

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Objectives: Molecular characterization of a patient with BWS.

Clinical Presentation And Intervention: A 4-year-old boy with overgrowth (weight above 99th and height at 99th percentile) had longitudinal hemihypertrophy of the tongue and left cheek. In addition, there was a difference of one centimeter in the circumference of the left and right leg.

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Purpose: The global spread and increasing clinical impact of carbapenemase-producing bacteria are alarming. Rapid diagnostic techniques for carbapenemase detection are of the utmost importance to prevent delays in efficient antibiotic therapy and the control of spread in hospitals. Recently, multiplex immunochromatographic lateral flow tests (ICTs) for the fast detection of carbapenemase-producers have become commercially available.

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