Publications by authors named "Freudlsperger C"

Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

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When the member states imposed unilateral restrictions on the cross-border movement of persons and goods in their initial response to the COVID-19 pandemic, the EU appeared to relapse into the 'politics trap' of earlier integration crises. However, our analysis of entry restrictions for persons in France, Germany, Italy, the Netherlands, and Poland from the end of 2019 to the summer of 2022 shows no systematic relationship between domestic politicisation and national border closures. Rather, border closures followed the course of the pandemic as well as EU recommendations.

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Article Synopsis
  • Postoperative radiotherapy enhances local control in patients with oral cavity squamous cell carcinoma (OCSCC) who have positive surgical margins.
  • A study of 162 patients revealed that those with resection margins ≤5 mm had significantly worse local control compared to those with wider margins, though margin size did not significantly impact overall or progression-free survival.
  • The findings suggest that patients with narrow margins (1-5 mm) should receive postoperative radiotherapy, highlighting the need for further research to refine margin guidelines for treatment.
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Objectives: Surgical resection is a key component of the treatment of head and neck cancer and the achievement of free surgical margins are essential for the patients' outcome in terms of survival. While there is a general recommendation for a free resection range of 5 mm, up to date, there is a lack of investigations on the quality of tumor resection in dependence of affected subsite and tumor stage. In the presented study, predictors for the achieved resection margins in surgically treated oral squamous cell carcinomas were analyzed.

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Objectives: In the presented study, the occurrence rates of second primary oral carcinomas and their prognostic relevance were analyzed.

Materials And Methods: All patients with surgically treated oral squamous cell carcinomas within the years 2010 and 2022 in our department were included in this retrospective cohort study. Two groups were designed including patients with second primary carcinomas and patients with local tumor recurrences.

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Introduction: Photogrammetric surface scans provide a radiation-free option to assess and classify craniosynostosis. Due to the low prevalence of craniosynostosis and high patient restrictions, clinical data are rare. Synthetic data could support or even replace clinical data for the classification of craniosynostosis, but this has never been studied systematically.

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The human leukocyte antigene E (HLA-E) is associated with tumorigenesis in various cancers. Immunoncology along with sex-specific aspects in cancer therapy are now in scientific focus. Therefore, immunohistochemical HLA-E expression was retrospectively analysed in a cohort of oral squamous cell carcinomas (OSCC) after surgical therapy.

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The introduction of immune checkpoint inhibition for recurrent and metastatic head and neck cancer has brought a new treatment option for patients suffering from advanced oral cancers without a chance for curation using surgery or radiotherapy. The application of immune checkpoint inhibitors in most cases is based on the expression levels of PD-L1 in the tumor tissue. To date, there is a lack of data on the dynamic regulation of PD-L1 during disease progression.

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Positional cranial deformities are a common finding in toddlers, yet differentiation from craniosynostosis can be challenging. The aim of this study was to train convolutional neural networks (CNNs) to classify craniofacial deformities based on 2D images generated using photogrammetry as a radiation-free imaging technique. A total of 487 patients with photogrammetry scans were included in this retrospective cohort study: children with craniosynostosis (n = 227), positional deformities (n = 206), and healthy children (n = 54).

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Background: Patients with recurrent oral squamous cell carcinoma (OSCC) have limited treatment options. Salvage surgery offers potential curative therapy. The need for extensive ablative surgery together with microvascular reconstruction implies invasive and painful treatment with questionable functional outcome.

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Article Synopsis
  • The study evaluates the effectiveness and toxicity of combining intensity-modulated radiation therapy (IMRT) with a carbon ion boost for treating sinonasal malignancies, which are difficult due to their location near critical structures in the head and neck.
  • A total of 35 patients with difficult-to-treat adenoid or squamous cell carcinomas were treated, experiencing minimal acute side effects, with only 12% suffering from severe mucositis.
  • The outcomes showed promising survival rates: 79.4% overall survival and notable local progression-free survival rates, indicating this treatment approach is a viable option for managing these rare tumors.
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Free flap reconstruction is the standard of care for extensive defects of the head and neck area. In this study, two types of free flaps, the antero-lateral thigh flap (ALT) and the vastus lateralis muscle flap, were compared. The primary endpoint was flap success, secondary endpoints were complication rates, hospitalization and surgery time.

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(1) Background: In orthognathic surgery, segmental Le Fort I osteotomies are a valuable method to correct maxillary deformities or transversal discrepancies. However, these procedures are technically challenging, and osteosynthesis can be prone to error. (2) Methods: In this retrospective, monocentric cohort study, patients were enrolled who underwent a virtually planned segmental maxillary osteotomy during their combined treatment.

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The aim of this study was to analyze the clinical outcomes of three types of minor salivary gland carcinomas (adenoid-cystic carcinomas (ACC), adeno carcinomas not otherwise specified (AC-NOS), and mucoepidermoid carcinomas (MEC)) after primary surgical therapy. A retrospective cohort study was designed and patients with cancer of the minor oral salivary glands treated in our department in the years 2011 to 2022 were included. Clinicopathological data were evaluated to compare overall survival and progression-free survival between the entities.

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Surgery is generally accepted as standard treatment in oral cancer, but the reconstructive procedures remain a matter of debate. The aim of this study was to evaluate oncological outcome and quality of life following surgical resection and free-flap reconstruction in patients with early oral squamous cell carcinoma. The presented trial was performed as a prospective, single-center observation study.

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Background: Structured modelling of surgical knowledge and its automated processing is still challenging. The aim of this work is to introduce a novel approach for automated calculation of ontology-based planning proposals in mandibular reconstruction and conduct a feasibility study.

Methods: The presented approach is composed of an RDF(S) ontology, a 3D mandible template and a calculator-optimiser algorithm to automatically calculate reconstruction proposals with fibula grafts.

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Objective: Diagnosis of craniosynostosis using photogrammetric 3D surface scans is a promising radiation-free alternative to traditional computed tomography. We propose a 3D surface scan to 2D distance map conversion enabling the usage of the first convolutional neural networks (CNNs)-based classification of craniosynostosis. Benefits of using 2D images include preserving patient anonymity, enabling data augmentation during training, and a strong under-sampling of the 3D surface with good classification performance.

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Article Synopsis
  • A study aimed to assess the effects of two types of dental appliances on oral health after head and neck radiotherapy, comparing thermoplastic dental splints with semi-individualized, 3D-printed tissue retraction devices (TRDs).
  • The pilot trial included 29 patients, measuring saliva quality, taste perception, and oral disability before and three months after starting treatment.
  • Results showed no significant differences in taste perception or oral disability between the two groups, but TRDs suggested a slight advantage in saliva quantity and overall outcomes, although the small sample size warrants caution in interpreting these findings.
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Purpose: Fronto-orbital remodeling is the gold standard for surgical treatment of metopic synostosis in many craniofacial centers. For fixation, resorbable materials are widely used. Because of swelling during resorption, the positioning of the plates can be relevant.

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Introduction: Reconstruction plates, prebent on 3D printed models, are a cheap, quick, and safe solution to improve mandibular reconstruction procedures. The European Medical Device Regulation has changed recently and severely affects 3D printing in hospitals. Therefore, its legitimation must be discussed.

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Triggering receptor expressed on myeloid cells 2 (TREM2) is suggested to hamper antitumor immune response in multiple cancers. However, the role of TREM2 in oral squamous cell carcinoma (OSCC) and its expression in tumor-associated macrophages (TAMs) are unknown. In this study, TREM2 expression was analyzed in the primary tumors and corresponding lymph-node metastases of OSCC patients via immunohistochemistry on tissue microarrays.

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Background: To report survival of craniofacial osteosarcoma patients treated by particle radiotherapy.

Methods: Between January 2010 and December 2021, 51 patients with primary ( = 35) or recurrent ( = 16) inoperable or incompletely resected craniofacial osteosarcoma were treated. In most cases, intracranial infiltration (59%) and macroscopic tumor on MRI/CT (75%) were present.

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Background: Extended skin malignancies of the head and neck region are among the most common cancer types and are associated with numerous diagnostic and therapeutical problems. The radical resection of skin cancer in the facial area often leads to severe functional and aesthetic impairment, and precise margin assessments can avoid the extensive safety margins. On the other hand, the complete removal of the cancer is essential to minimize the risk of recurrence.

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Craniosynostosis is a condition associated with the premature fusion of skull sutures affecting infants. 3D photogrammetric scans are a promising alternative to computed tomography scans in cases of single suture or nonsyndromic synostosis for diagnostic imaging, but oftentimes diagnosis is not automated and relies on additional cephalometric measure-ments and the experience of the surgeon. We propose an alternative representation of the infant's head shape created from 3D photogrammetric surface scans as 2D distance maps.

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