Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.

Background: Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reliable, key, specific, and sensitive biomarker for diagnosis, prognosis, and treatment response in clinical studies of patients with GD. We evaluated the change in lyso-Gb1 concentration over time following enzyme replacement therapy in patients with confirmed GD using real-world data from the Gaucher Outcome Survey disease registry.

Development and application of a clinical core data set for deep brain stimulation in Parkinson's disease, dystonia or tremor: from data collection to data exchange and data sharing.

Background: Comprehensive clinical data regarding factors influencing the individual disease course of patients with movement disorders treated with deep brain stimulation might help to better understand disease progression and to develop individualized treatment approaches.

Methods: The clinical core data set was developed by a multidisciplinary working group within the German transregional collaborative research network ReTune. The development followed standardized methodology comprising review of available evidence, a consensus process and performance of the first phase of the study.

Alpha/beta values in pediatric medulloblastoma: implications for tailored approaches in radiation oncology.

Background: Medulloblastoma is the most common malignant pediatric brain tumor, typically treated with normofractionated craniospinal irradiation (CSI) with an additional boost over about 6 weeks in children older than 3 years. This study investigates the sensitivity of pediatric medulloblastoma cell lines to different radiation fractionation schedules. While extensively studied in adult tumors, these ratios remain unknown in pediatric cases due to the rarity of the disease.

Characterization of children with early onset pediatric multiple sclerosis.

Background: Early onset pediatric multiple sclerosis (EOPMS) provides an early window of opportunity to understand the mechanisms leading to MS.

Objective: To investigate clinical, laboratory and imaging differences between children with early onset pediatric MS (<11 years, EOPMS) and late onset pediatric MS (≥11 years, LOPMS).

Methods: Mostly prospectively collected data of children with MS including clinical presentation, MRI at onset, time to second relapse, relapse rate, treatment history, and CSF markers were eligible.

Comparison of immune responses to SARS-CoV-2 spike following Omicron infection or Omicron BA.4/5 vaccination in kidney transplant recipients.

Background: The emergence of novel SARS-CoV-2 variants challenges immunity, particularly among immunocompromised kidney transplant recipients (KTRs). To address this, vaccines have been adjusted to circulating variants. Despite intensive vaccination efforts, SARS-CoV-2 infections surged among KTRs during the Omicron wave, enabling a direct comparison of variant-specific immunity following-vaccination against Omicron BA.

Dental and oral health assessments in the German National Cohort (NAKO).

Background: Despite considerable improvements in oral health in recent decades, caries and periodontitis are still widespread, ranking among the most prevalent diseases worldwide and requiring future research. The German National Cohort (NAKO Gesundheitsstudie, NAKO) is a large-scaled, multidisciplinary, nationwide, multi-centre, population-based, prospective cohort study with oral examinations that aims to provide a resource to study risk factors for major diseases. The aim of the present article is to provide the methodological background, to report on the data quality, and to present initial results of the oral examinations.

Cross-Platform Ecological Momentary Assessment App (JTrack-EMA+): Development and Usability Study.

Background: Traditional in-clinic methods of collecting self-reported information are costly, time-consuming, subjective, and often limited in the quality and quantity of observation. However, smartphone-based ecological momentary assessments (EMAs) provide complementary information to in-clinic visits by collecting real-time, frequent, and longitudinal data that are ecologically valid. While these methods are promising, they are often prone to various technical obstacles.

A gut instinct for childhood leukemia prevention: microbiome-targeting recommendations aimed at parents and caregivers.

Childhood leukemia accounts for 30% of all pediatric cancer cases with acute lymphoblastic leukemia (ALL) being the most common subtype. Involvement of the gut microbiome in ALL development has recently garnered interest due to an increasing recognition of the key contribution the microbiome plays in maintaining the immune system's homeostatic balance. Commensal gut microbiota provide a first line of defense against different pathogens and gut microbiome immaturity has been implicated in ALL pathogenesis.

SQUARE-IT: a proposed approach to square the identified research problem in the literature with the objectives, the appropriate clinical research question, and the research hypothesis.

The purpose of this article is to design and introduce the SQUARE-IT approach to help scientists and clinicians in research to align important research problems with the objectives, the appropriate clinical research questions to be answered, and the research hypotheses to be investigated in medical and therapeutic specialties. Research ideas can be generated primarily through simple methods such as brainstorming and mind mapping. However, transforming ideas into a valid research question is not as easy as it may seem, as the mere presence of an idea does not guarantee that the researcher has already uncovered existing knowledge on a particular topic or identified the actual research problem.

Occurrence and clinical correlates of SARS-CoV-2 viremia in two German patient cohorts.

Viremia defined as detectable SARS-CoV-2 RNA in the blood is a potential marker of disease severity and prognosis in COVID-19 patients. Here, we determined the frequency of viremia in serum of two independent COVID-19 patient cohorts within the German National Pandemic Cohort Network (German: tionales andemie horten etzwerk, NAPKON) with diagnostic RT-PCR against SARS-CoV-2. A cross-sectional cohort with 1,122 COVID-19 patients (German: , SUEP) and 299 patients recruited in a high-resolution platform with patients at high risk to develop severe courses (German: , HAP) were tested for viremia.

A Short Cognitive and Neuropsychiatric Assessment Scale for Progressive Supranuclear Palsy.

Background: Patients with Progressive Supranuclear Palsy (PSP) suffer from several neuropsychological impairments. These mainly affect the frontal lobe and subcortical brain structures. However, a scale for the assessment of cognitive and neuropsychiatric disability in PSP is still missing.

Early-life adversity as a predictor of fibromyalgia syndrome: the central role of perceived stress over endocrine stress indicators.

This study investigates the associations between early childhood adversities, stress perception, and fibromyalgia syndrome (FMS). Although the interconnection between dysregulated stress systems and FMS is well documented, the interconnection between early adversities and FMS remains less understood. This study explores the relationship of early-life stress and FMS by examining its mediation through perceived stress, and acute and chronic endocrine stress indicators.

Temporal profiling of M-TEER-related complications.

Aims: Transcatheter edge-to-edge repair of the mitral valve (M-TEER) is known for its low complication rates. However, the optimal level and duration of post-procedural care remain unclear. This study aimed to identify the specific timeframe of post-procedural complications following M-TEER.

Temporal transcriptional profiling of host cells infected by a veterinary alphaherpesvirus using nanopore sequencing.

In our research, we performed temporal transcriptomic profiling of host cells infected with Equid alphaherpesvirus 1 (EHV-1) by utilizing direct cDNA sequencing based on nanopore MinION technology. The sequencing reads were harnessed for transcript quantification at various time points. Viral infection-induced differential gene expression was identified through the edgeR package.

Diaphragmatic stripping versus full-thickness diaphragmatic resection in cytoreductive surgery: a meta-analysis of the current evidence.

Purpose: The primary objective was to compare the intra- and postoperative outcomes of diaphragmatic stripping versus full-thickness diaphragmatic resection in patients with peritoneal carcinomatosis who underwent cytoreductive surgery.

Methods: According to the PRSIMA guidelines, a comprehensive literature search was conducted for studies comparing postoperative pulmonary complications as well as intra- and postoperative outcomes of diaphragmatic stripping versus full-thickness diaphragmatic resection in patients with peritoneal carcinomatosis necessitating cytoreductive surgery. Data from eligible studies were extracted, qualitatively assessed, and included in a meta-analysis.

Cyclophilin A Regulates Tripartite Motif 5 Alpha Restriction of HIV-1.

The peptidyl-prolyl isomerase A (PPIA), also known as cyclophilin A (CYPA), is involved in multiple steps of the HIV-1 replication cycle. CYPA regulates the restriction of many host factors by interacting with the CYPA-binding loop on the HIV-1 capsid (CA) surface. TRIM5 (tripartite motif protein 5) in primates is a key species-specific restriction factor defining the HIV-1 pandemic.

Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future.

Proteomics accelerates diagnosis and research of muscular diseases by enabling the robust analysis of proteins relevant for the manifestation of neuromuscular diseases in the following aspects: (i) evaluation of the effect of genetic variants on the corresponding protein, (ii) prediction of the underlying genetic defect based on the proteomic signature of muscle biopsies, (iii) analysis of pathophysiologies underlying different entities of muscular diseases, key for the definition of new intervention concepts, and (iv) patient stratification according to biochemical fingerprints as well as (v) monitoring the success of therapeutic interventions. This review presents-also through exemplary case studies-the various advantages of mass proteomics in the investigation of genetic muscle diseases, discusses technical limitations, and provides an outlook on possible future application concepts. Hence, proteomics is an excellent large-scale analytical tool for the diagnostic workup of (hereditary) muscle diseases and warrants systematic profiling of underlying pathophysiological processes.

Barriers and new opportunities in developing effective therapies for diabetic neuropathy: International expert consensus recommendations.

Background: Diabetic neuropathy (DN) affects up to half of individuals with type 1 and type 2 diabetes. Despite evidence that improving metabolic and cardiovascular health can slow its progression, DN remains a significant clinical challenge due to the lack of disease-modifying therapies and effective pain management strategies. This consensus aimed to identify gaps and recommend strategies to address these challenges.

Chromosome-scale genome dynamics reveal signatures of independent haplotype evolution in the ancient asexual mite .

Some unique asexual species persist over time and contradict the consensus that sex is a prerequisite for long-term evolutionary survival. How they escape the dead-end fate remains enigmatic. Here, we generated a haplotype-resolved genome assembly on the basis of a single individual and collected genomic data from worldwide populations of the parthenogenetic diploid oribatid mite to identify signatures of persistence without sex.

mGBP2 engages Galectin-9 for immunity against Toxoplasma gondii.

Guanylate binding proteins (GBPs) are large interferon-inducible GTPases, executing essential host defense activities against Toxoplasma gondii, an invasive intracellular apicomplexan protozoan parasite of global importance. T. gondii establishes a parasitophorous vacuole (PV) which shields the parasite from the host's intracellular defense mechanisms.

Effects of osteosynthesis of the bony thorax in the context of polytrauma compared to conservative treatment: a systematic review.

Purpose: Osteosynthesis seems to have effects regarding clinical outcomes in trauma patients. However, current knowledge on chest wall osteosynthesis in polytrauma patients is insufficient, leaving its potential unanswered. Therefore, the objective of this systematic review is to assess the safety and effects of chest wall osteosynthesis compared to conservative treatment on clinical outcomes in adult polytrauma patients.

Role of Ciliary Neurotrophic Factor in Angiotensin II-Induced Hypertension.

Background: Ciliary neurotrophic factor (CNTF), mainly known for its neuroprotective properties, belongs to the IL-6 (interleukin-6) cytokine family. In contrast to IL-6, the effects of CNTF on the vasculature have not been explored. Here, we examined the role of CNTF in AngII (angiotensin II)-induced hypertension.