Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.

Background: Impaired mitochondrial protein import machinery leads to phenotypically heterogeneous diseases. Here, we report a recurrent homozygous missense variant in the gene that encodes the translocase of outer mitochondrial membrane 7 (TOMM7) in nine patients with microcephaly, short stature, facial dysmorphia, atrophic macular scarring, and moyamoya disease from seven unrelated families.

Methods: To prove the causality of the TOMM7 variant, mitochondrial morphology, proteomics, and respiration were investigated in CRISPR/Cas9-edited iPSCs-derived endothelial cells.

Digitization of Dentate and Edentulous Maxillectomy and Mandibulectomy Defects with Three Different Intraoral Scanners: A Comparative In Vitro Study.

: The objective of this study was to compare the trueness and precision of three intraoral scanners (IOSs) for the digitization of dentate and edentulous maxillectomy and mandibulectomy defects in artificial models. Four representative defect models-a dentate and an edentulous maxillectomy model and a dentate and an edentulous mandibulectomy model-were used for digital scanning. After a reference scan of each model, they were scanned with three IOSs: CEREC AC Omnicam, True Definition, and cara TRIOS 3.

Evaluating the cost, cost-effectiveness and survival of an eHealth-facilitated integrated care model for allogeneic stem cell transplantation: Results of the German SMILe randomized, controlled implementation science trial.

Purpose: eHealth-facilitated integrated care models (eICMs) have proved effective in improving outcomes for chronically ill patients. However, evidence on cost-effectiveness of eICMs is scarce so far. Allogeneic stem cell transplantation (alloSCT) recipients' post-discharge treatment costs and mortality are greatly influenced by complications.

FastSurfer-HypVINN: Automated sub-segmentation of the hypothalamus and adjacent structures on high-resolutional brain MRI.

The hypothalamus plays a crucial role in the regulation of a broad range of physiological, behavioral, and cognitive functions. However, despite its importance, only a few small-scale neuroimaging studies have investigated its substructures, likely due to the lack of fully automated segmentation tools to address scalability and reproducibility issues of manual segmentation. While the only previous attempt to automatically sub-segment the hypothalamus with a neural network showed promise for 1.

Starvation-induced metabolic rewiring affects mTORC1 composition in vivo.

Lysosomes play a crucial role in metabolic adaptation to starvation, but detailed in vivo studies are scarce. Therefore, we investigated the changes of the proteome of liver lysosomes in mice starved short-term for 6h or long-term for 24h. We verified starvation-induced catabolism by weight loss, ketone body production, drop in blood glucose and an increase of 3-methylhistidine.

Impact of Pseudomonas aeruginosa carriage on intensive care unit-acquired pneumonia: a European multicentre prospective cohort study.

Objectives: Pseudomonas aeruginosa (PA) is a common causative pathogen of pneumonia acquired in the intensive care unit (ICU). The aim of this study was to determine the incidence of PA ICU pneumonia (PAIP) and to quantify its independent association with PA colonization at different body sites.

Methods: Adult patients on mechanical ventilation at ICU admission were prospectively enrolled across 30 European ICUs.

Unleashing the potential of eHealth in outpatient cancer care for patients undergoing immunotherapy-a quantitative study considering patients' needs and current healthcare challenges.

Background: The use of online information and communication is globally increasing in the healthcare sector. In addition to known benefits in other medical fields, possible specific potentials of eHealth lie in the monitoring of oncological patients undergoing outpatient therapy. Specifically, the treatment with immune checkpoint inhibitors (ICI) requires intensive monitoring due to various possible negative side effects.

Effectiveness of high efficiency particulate (HEPA) air condition combined with the antifungal prophylaxis on incidence, morbidity and mortality of invasive fungal infections in patients with acute myeloid leukemia: a retrospective single-center study.

Introduction: Our monocentric and retrospective study aimed to investigate the clinical effectivity of HEPA filters in combination with the antifungal drug prophylaxis in patients with AML undergoing intensive chemotherapy and allogeneic stem cell transplantation (SCT).

Methods/results: We included 177 patients between 2005 and 2015 representing a total of 372 in-hospital stays, 179 in the HEPA cohort (+HEPA) and 193 in the cohort without HEPA filters (-HEPA). No significant additional benefit of HEPA filtration on the risk reduction of IFI was observed.

Perivascular space enlargement accelerates in ageing and Alzheimer's disease pathology: evidence from a three-year longitudinal multicentre study.

Background: Perivascular space (PVS) enlargement in ageing and Alzheimer's disease (AD) and the drivers of such a structural change in humans require longitudinal investigation. Elucidating the effects of demographic factors, hypertension, cerebrovascular dysfunction, and AD pathology on PVS dynamics could inform the role of PVS in brain health function as well as the complex pathophysiology of AD.

Methods: We studied PVS in centrum semiovale (CSO) and basal ganglia (BG) computationally over three to four annual visits in 503 participants (255 females; mean = 70.

A Prospective Single-center Pilot Study on the Use of Closed-loop Spinal Cord Stimulation to Treat Chronic Pain Associated With Raynaud's Phenomenon.

Objectives: Raynaud's phenomenon (RP) is a vascular disorder characterized by episodic peripheral artery vasospasms, resulting in paleness, cyanosis, and/or erythema. There are few reports, mostly case reports, on the benefits of spinal cord stimulation (SCS) for the treatment of RP. However, there is a lack of objective evidence on SCS-induced modulation of the sympathetic system (eg, vasodilation) in this condition.

Polygenic risk scores stratify breast cancer risk among women with benign breast disease.

Purpose: Most breast biopsies are diagnosed as benign breast disease (BBD), with 1.5- to fourfold increased breast cancer (BC) risk. Apart from pathologic diagnoses of atypical hyperplasia, few factors aid in BC risk assessment of these patients.

FOXN3-AS1: A Candidate Prognostic Marker and Epigenetic Target with Immunotherapeutic Implications in Acute Myeloid Leukemia.

Aim: We focused on the FOXN3 gene and selected its antisense transcripts (FOXN3-AS1) to investigate its potential involvement in acute myeloid leukemia (AML).

Background: Several integrated multi-omics datasets have expanded the horizons of the cancer landscape. With the emergence of new high-throughput technologies, a large number of non-coding RNAs have been confirmed to be involved in the pathogenesis of different types of hematological malignancies.

Graphasing: phasing diploid genome assembly graphs with single-cell strand sequencing.

Haplotype information is crucial for biomedical and population genetics research. However, current strategies to produce de novo haplotype-resolved assemblies often require either difficult-to-acquire parental data or an intermediate haplotype-collapsed assembly. Here, we present Graphasing, a workflow which synthesizes the global phase signal of Strand-seq with assembly graph topology to produce chromosome-scale de novo haplotypes for diploid genomes.

Evaluating the accuracy and reliability of non-piezo portable ultrasound devices in postpartum care.

Introduction: The early diagnosis of hemorrhage via postpartum ultrasound is crucial to initiate therapy and, thus, prevent maternal death. In these critical situations rapid availability and simple transport of ultrasound devices is vital, paving the way for a  new generation of portable handheld ultrasound devices (PUD) consisting of transducers and tablets or smart phones. However, evidence to confirm the diagnostic accuracy of these new devices is still scarce.

Prospective selective embedding of radical prostatectomy specimens is not inferior to full embedding regarding established and new prognostic parameters.

The histopathological examination of radical prostatectomy specimens is essential for assessing critical tumor characteristics, including stage, grade, and margins, all of which impact patient prognosis. However, the extent of embedding the prostate has long been a subject of debate, with some advocating partial/selective embedding and others favoring complete embedding. This study establishes a standardized and time-efficient protocol for processing radical prostatectomy specimens with limited embedding while maintaining diagnostic accuracy.

Association of Ultraprocessed Foods Intake with Untargeted Metabolomics Profiles in Adolescents and Young Adults in the DONALD Cohort Study.

Background: High consumption of ultraprocessed foods (UPFs) continues to draw significant public health interest because of the associated negative health outcomes. Metabolomics can contribute to the understanding of the biological mechanisms through which UPFs may influence health.

Objectives: To investigate urine and plasma metabolomic biomarkers of UPF intake in adolescents and young adults.

Hypoxic-ischemic brain injury in pig after cardiac arrest - A new histopathological scoring system for non-specialists.

Introduction: After cardiac arrest and successful resuscitation patients often present with hypoxic-ischemic brain injury, which is a major cause of death due to poor neurological outcome. The development of a robust histopathological scoring system for the reliable and easy identification and quantification of hypoxic-ischemic brain injury could lead to a standardization in the evaluation of brain damage. We wanted to establish an easy-to-use neuropathological scoring system to identify and quantify hypoxic-ischemic brain injury.