Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Unlabelled: Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.

Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum.

Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.

Prohibiting Babel-A call for professional remote interpreting services in pre-operation anaesthesia information.

Introduction: Language barriers within clinical settings pose a threat to patient safety. As a potential impediment to understanding, they hinder the process of obtaining informed consent and uptake of critical medical information. This study investigates the impact of the current use of interpreters, with a particular focus on of engaging laypersons as interpreters, rather than professional interpreters potentially affecting patient safety.

Laparoscopic Endometriosis Surgery in Patients with Infertility: Identifying Surgical and Non-Surgical Variables Affecting Postoperative Pregnancy. Long-term Follow-up in a University Endometriosis Center.

Background: Endometriosis is a disease which affects the quality of life and fertility of many young women. Choosing the right time for surgery is important for the outcome of patients. We evaluated the surgical variables affecting postoperative pregnancy rates.

Wilms tumor primary cultures capture phenotypic heterogeneity and facilitate preclinical screening.

Wilms tumors (WT) are characterized by variable contributions of blastemal, epithelial and stromal elements, reflecting their diverse cellular origins and genetic drivers. In vitro models remain rare, despite a growing need to better characterize tumor biology and evaluate new treatments. Using three approaches, we have now established a large collection of long-term cultures that represent this diversity.

The Burden of ABO-Incompatible Kidney Transplantation: Readmission Rates and Complications, a Twenty-Year Analysis.

: ABO-incompatible live-donor kidney transplantation (ABOi-LDKT) has become an established treatment for end-stage renal disease. Non-inferiority in the long-term graft function compared to ABO-compatible live-donor kidney transplantations (ABOc-LDKTs) has been shown. However, the assumed burden due to complications owing to increased immunosuppression inherent to ABOi-LDKTs has not yet been quantified.

Predisposition footprints in the somatic genome of Wilms tumours.

Ten percent of children with cancer harbour a mutation in a predisposition gene. In children with the kidney cancer, Wilms tumour, the prevalence is as high as 30%. Certain predispositions are associated with defined histological and clinical features, suggesting differences in tumourigenesis.

Pain in Children and Adolescents with Cerebral Palsy: A Cross-sectional Survey Study.

Aim: This study aims to investigate the prevalence, intensity, and location of pain in children and adolescents with cerebral palsy (CP) and analyze pain-related symptoms and participation restrictions.

Methods: Children and adolescents aged 2 to 16 years diagnosed with CP were invited to participate in a pain survey. The questionnaire was based on the German Pain Questionnaire for Children, Adolescents and Parents (DSF-KJ).

Infantile Sinonasal Tract Myxomas with Orbital Involvement: Presentation of Two Cases and Comprehensive Literature Review.

Our aim is to present two cases of infantile sinonasal tract myxoma with orbital involvement and conduct a comprehensive literature review of the topic. We aim to provide a summary of the presentation of infantile sinonasal tract myxomas to effectively aid clinicians in considering this rare entity as a potential diagnosis. We present a case series and a retrospective review of the published literature in the English language.

STAR LIGHT Study: XBB.1.5 COVID-19 mRNA Vaccines Boost Systemic but Not Mucosal Immunity Against the SARS-CoV-2 JN.1 Variant in Patients with Chronic Liver Disease.

Background: Patients with chronic liver disease (CLD) have impaired vaccine immunogenicity and an excess risk of severe COVID-19. While variant-adapted COVID-19 mRNA vaccines are recommended for vulnerable individuals, their efficacy in patients with CLD has not been studied.

Methods: We present the first evaluation of XBB.

Towards verifiable cancer digital twins: tissue level modeling protocol for precision medicine.

Cancer exhibits substantial heterogeneity, manifesting as distinct morphological and molecular variations across tumors, which frequently undermines the efficacy of conventional oncological treatments. Developments in multiomics and sequencing technologies have paved the way for unraveling this heterogeneity. Nevertheless, the complexity of the data gathered from these methods cannot be fully interpreted through multimodal data analysis alone.

Does regression of skin thickening predict improvement of internal organ involvement and survival in patients with diffuse cutaneous systemic sclerosis? A EUSTAR analysis.

Objective: Patients with diffuse cutaneous systemic sclerosis (dcSSc) frequently show spontaneous improvement of skin fibrosis. Our aim was to examine whether an improvement in skin fibrosis predicts lower likelihood of visceral organ progression and better survival.

Methods: Patients from the European Scleroderma Trials and Research (EUSTAR) cohort with dcSSc, baseline modified Rodnan skin score (mRSS) ≥7, and valid mRSS at 12±3 months follow up were included.

XBB.1.5-Adapted COVID-19 mRNA Vaccines but Not Infections With Previous Omicron Variants Boost Neutralisation Against the SARS-CoV-2 JN.1 Variant in Patients With Inflammatory Bowel Disease.

Background: Variant-adapted COVID-19 vaccines are recommended for patients with inflammatory bowel disease (IBD). However, many patients rely on pre-existing immunity by original vaccines or prior infections.

Aim: To assess whether such immunity sufficiently combats the highly immune-evasive SARS-CoV-2 JN.

Outcome after treatment with axitinib in children, young adults, and adults with renal cell carcinoma: a narrative review.

Renal cell carcinoma (RCC) is a very rare type of renal cancer in children and young adults. When metastasized or recurrent, no standards of care are available, and outcome is still poor. The tyrosine kinase inhibitor axitinib is approved for treatment of RCC in adults, but its effects in children and young adults with RCC remains unclear.

Research productivity on spontaneous intracranial hypotension: A bibliometric analysis.

Introduction: Spontaneous intracranial hypotension (SIH) is an important cause of devastating headaches and caused by CSF-leaks in the spine.

Research Question: The aim of this analysis was to gain an overview of the progress of research on SIH over time. The global publication landscape relating to SIH was analyzed and comparisons between regions were made.

Targeted therapies in children with renal cell carcinoma (RCC): An International Society of Pediatric Oncology-Renal Tumor Study Group (SIOP-RTSG)-related retrospective descriptive study.

Introduction: Introduction: Renal cell carcinoma (RCC) is a very rare pediatric renal tumor. Robust evidence to guide treatment is lacking and knowledge on targeted therapies and immunotherapy is mainly based on adult studies. Currently, the International Society of Pediatric Oncology-Renal Tumor Study Group (SIOP-RTSG) 2016 UMBRELLA protocol recommends sunitinib for metastatic or unresectable RCC.

Characteristics and outcome of synchronous bilateral Wilms tumour in the SIOP WT 2001 Study: Report from the SIOP Renal Tumour Study Group (SIOP-RTSG).

Background: Among patients with nephroblastoma, those with bilateral disease are a unique population where maximising tumour control must be balanced with preserving renal parenchyma.

Methods: The SIOP 2001 protocol recommended surgery after neoadjuvant cycle(s) of Dactinomycin and Vincristine (AV) with response-adapted intensification, if needed. Adjuvant treatment was given based on the lesion with the worst histology.

Systemic and Mucosal Immunogenicity of Monovalent XBB.1.5-Adapted COVID-19 mRNA Vaccines in Patients with Inflammatory Bowel Disease.

Recently updated COVID-19 mRNA vaccines encode the spike protein of the omicron subvariant XBB.1.5 and are recommended for patients with inflammatory bowel disease (IBD) on immunosuppressive treatment.

Reviewing the current state of virtual reality integration in medical education - a scoping review.

Background: In medical education, new technologies like Virtual Reality (VR) are increasingly integrated to enhance digital learning. Originally used to train surgical procedures, now use cases also cover emergency scenarios and non-technical skills like clinical decision-making. This scoping review aims to provide an overview of VR in medical education, including requirements, advantages, disadvantages, as well as evaluation methods and respective study results to establish a foundation for future VR integration into medical curricula.

Irinotecan and temozolomide in combination with dasatinib and rapamycin versus irinotecan and temozolomide for patients with relapsed or refractory neuroblastoma (RIST-rNB-2011): a multicentre, open-label, randomised, controlled, phase 2 trial.

Background: Neuroblastoma is the most common extracranial solid tumour in children. Relapsed or refractory neuroblastoma is associated with a poor outcome. We assessed the combination of irinotecan-temozolomide and dasatinib-rapamycin (RIST) in patients with relapsed or refractory neuroblastoma.

Medulloblastoma in children with Fanconi anemia: Association with FA-D1/FA-N, SHH type and poor survival independent of treatment strategies.

Background: The outcome of children with medulloblastoma (MB) and Fanconi Anemia (FA), an inherited DNA repair deficiency, has not been described systematically. Treatment is complicated by high vulnerability to treatment-associated side effects, yet structured data are lacking. This study aims to give a comprehensive overview of clinical and molecular characteristics of pediatric FA MB patients.

Can Lymph Node Involvement in Unilateral Wilms Tumor be Predicted by Preoperatively known Data in Combination with Intraoperative Findings?

Objective: This study aimed to identify parameters that allow the estimation of tumor-infiltrated lymph nodes (LN) after pretreatment for unilateral Wilms tumor (WT).

Summary Background Data: Complete tumor resection with removal of regional LN is always necessary. Positive LNs require local irradiation influencing benefits in case of NSS in long-term follow-up.

Photoimmunotherapy of Prostate Cancer With Antibody and Fab Fragments Targeting the Prostate Specific Membrane Antigen.

Background/aim: The standard treatment for localized prostate cancer involves surgical removal of the prostate with curative intent. However, when tumor cells persist in the operation site, there is high risk of local recurrence and tumor spread, leading to stressful follow-up treatments, impaired quality of life, and reduced overall survival. This study examined photoimmunotherapy (PIT) as a new treatment option for prostate cancer cells.

A Multidisciplinary Hyper-Modeling Scheme in Personalized In Silico Oncology: Coupling Cell Kinetics with Metabolism, Signaling Networks, and Biomechanics as Plug-In Component Models of a Cancer Digital Twin.

The massive amount of human biological, imaging, and clinical data produced by multiple and diverse sources necessitates integrative modeling approaches able to summarize all this information into answers to specific clinical questions. In this paper, we present a hypermodeling scheme able to combine models of diverse cancer aspects regardless of their underlying method or scale. Describing tissue-scale cancer cell proliferation, biomechanical tumor growth, nutrient transport, genomic-scale aberrant cancer cell metabolism, and cell-signaling pathways that regulate the cellular response to therapy, the hypermodel integrates mutation, miRNA expression, imaging, and clinical data.