Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Precision oncology offers new cancer treatment options, yet sequencing methods vary in type and scope. In this study, we compared whole-exome/whole-genome (WES/WGS) and transcriptome sequencing (TS) with broad panel sequencing by resequencing the same tumor DNA and RNA as well as normal tissue DNA for germline assessment, from 20 patients with rare or advanced tumors, who were originally sequenced by WES/WGS ± TS within the DKFZ/NCT/DKTK MASTER program from 2015 to 2020. Molecular analyses resulted in a median number of 2.

Genotyping-by-sequencing-based high-resolution mapping reveals a single candidate gene for the grapevine veraison locus Ver1.

Veraison marks the transition from berry growth to berry ripening and is a crucial phenological stage in grapevine (Vitis vinifera): the berries become soft and begin to accumulate sugars, aromatic substances, and, in red cultivars, anthocyanins for pigmentation, while the organic acid levels begin to decrease. These changes determine the potential quality of wine. However, rising global temperatures lead to earlier flowering and ripening, which strongly influence wine quality.

Prevalence of Chlamydia trachomatis, Neisseria gonorrhoeae and Mycoplasma genitalium at pharyngeal and anorectal sites in patients presenting to an STI outpatient ward.

Background: The incidence of sexually transmitted infections (STIs) is unbridled and on the rise. Extragenital STIs (anal and pharyngeal infections) are commonly asymptomatic, resulting in delayed diagnosis and treatment and consequently higher chances of onward transmission.

Objective: The aim of this observational single-centre study was to determine the prevalence of STIs at extragenital sites in symptomatic and asymptomatic patients presenting at an STI outpatient clinic.

Long-Term Robustness and Failure Mechanisms of Electrochemical Stripping for Wastewater Ammonia Recovery.

Nitrogen in wastewater has negative environmental, human health, and economic impacts but can be recovered to reduce the costs and environmental impacts of wastewater treatment and chemical production. To recover ammonia/ammonium (total ammonia nitrogen, TAN) from urine, we operated electrochemical stripping (ECS) for over a month, achieving 83.4 ± 1.

Modes and motifs in multicellular communication.

Signaling pathways feature multiple interacting ligand and receptor variants, which are thought to act in a combinatorial manner to elicit different cellular responses. Transcriptome analyses now suggest that many signaling pathways use their components in combinations that are surprisingly often shared between otherwise dissimilar cell states.

"Alone Again, Naturally": Mental Health Problems, Level of Personality Functioning, Social Withdrawal and Loneliness in Adolescents Admitted as Acute Inpatients in the Aftermath of the COVID-19 Pandemic.

(1) Background: Adolescents admitted as acute inpatients belong to a particularly psychosocially vulnerable population. This study aimed to examine the clinical characteristics of an affected population in Germany using a theory-based approach. (2) Methods: We assessed the mental health problems, levels of personality functioning, and the severity of social withdrawal and loneliness in = 62 adolescents admitted to an acute psychiatric inpatient unit.

intoxications: experience of the Poisons Information Centre, Austria 2002-2018.

Introduction: Colchicine toxicity can occur when individuals unintentionally pick meadow saffron () instead of . This study aimed to assess the severity of poisoning based on readily available clinical laboratory parameters evaluated within the first 24 hours of ingestion.

Methods: Data from the Austrian Poisons Information Centre from 2002 to 2018 were evaluated for poisoning and follow-up, including patients' clinical conditions, laboratory values, and serum colchicine concentrations.

Are ChatGPT's Free-Text Responses on Periprosthetic Joint Infections of the Hip and Knee Reliable and Useful?

Background: This study aimed to evaluate ChatGPT's performance on questions about periprosthetic joint infections (PJI) of the hip and knee.

Methods: Twenty-seven questions from the 2018 International Consensus Meeting on Musculoskeletal Infection were selected for response generation. The free-text responses were evaluated by three orthopedic surgeons using a five-point Likert scale.

Sports-related leisure behavior in Alpine regions during the COVID-19 pandemic-A cross-sectional study in Austria, Germany and Italy.

Introduction: As a planetary health challenge, COVID-19 forced governments around the world to take action to prevent the most severe consequences resulting from the spread of the virus. These measures ranged from stay-at-home orders to limitations on indoor and outdoor activities, travel restrictions and the cancelation of sports events, all of which affected people's leisure activities and daily lives. Therefore, the aim of this study is to examine changes in sports-related leisure behavior in terms of attending major sports events, following major sports events via media, travel intentions and the use of new sports offerings.

The Practicality of Post-mortem Imaging in Prenatal, Perinatal, and Pediatric Cases.

The essential role of the autopsy is seen in its contributions to medical care, scientific research, and family counseling. Major contributions are also noted in forensic pathology as a means to determine cause-of-death for legal and medical experts. However, autopsy acceptance rates are quite low due to an array of reasons including delayed burials, faith, and moral burdening.

Regulation of Nodal signaling propagation by receptor interactions and positive feedback.

During vertebrate embryogenesis, the germ layers are patterned by secreted Nodal signals. In the classical model, Nodals elicit signaling by binding to a complex comprising Type I/II Activin receptors (Acvr) and the co-receptor Tdgf1. However, it is currently unclear whether receptor binding can also affect the distribution of Nodals themselves through the embryo, and it is unknown which of the putative Acvr paralogs mediate Nodal signaling in zebrafish.

Effects of COVID-19 Lockdown on Melanoma Diagnosis in Switzerland: Increased Tumor Thickness in Elderly Females and Shift towards Stage IV Melanoma during Lockdown.

At the early stages of the COVID-19 outbreak in 2020, Switzerland was among the countries with the highest number of SARS-CoV2-infections per capita in the world. Lockdowns had a remarkable impact on primary care access and resulted in postponed cancer screenings. The aim of this study was to investigate the effects of the COVID-19 lockdown on the diagnosis of melanomas and stage of melanomas at diagnosis.

A Simple and Effective Transplantation Device for Zebrafish Embryos.

Classical embryological manipulations, such as removing cells and transplanting cells within or between embryos, are powerful techniques to study complex developmental processes. Zebrafish embryos are ideally suited for these manipulations since they are easily accessible, relatively large in size, and transparent. However, previously developed devices for cell removal and transplantation are cumbersome to use or expensive to purchase.

Extremely rapid and reversible optogenetic perturbation of nuclear proteins in living embryos.

Many developmental regulators have complex and context-specific roles in different tissues and stages, making the dissection of their function extremely challenging. As regulatory processes often occur within minutes, perturbation methods that match these dynamics are needed. Here, we present the improved light-inducible nuclear export system (iLEXY), an optogenetic loss-of-function approach that triggers translocation of proteins from the nucleus to the cytoplasm.

Comparative Repeat Profiling of Two Closely Related Conifers ( and ) Reveals High Genome Similarity With Only Few Fast-Evolving Satellite DNAs.

In eukaryotic genomes, cycles of repeat expansion and removal lead to large-scale genomic changes and propel organisms forward in evolution. However, in conifers, active repeat removal is thought to be limited, leading to expansions of their genomes, mostly exceeding 10 giga base pairs. As a result, conifer genomes are largely littered with fragmented and decayed repeats.

The benefit of intravenous thrombolysis prior to mechanical thrombectomy within the therapeutic window for acute ischemic stroke.

The increase in risk for acute ischemic stroke (AIS) with age is well established. If not treated properly and promptly, AIS can result in permanent neurological damage and even death. This literature review assesses the clinical outcomes of AIS patients treated with both intravenous thrombolysis (IVT) prior to mechanical thrombectomy (MT) compared to those treated solely with mechanical thrombectomy.

Evaluation of camera-based freehand SPECT in preoperative sentinel lymph node mapping for melanoma patients.

Background: Assessment of lymphatic status via sentinel lymph node (SLN) biopsy is an integral and crucial part of melanoma surgical oncology. The most common technique for sentinel node mapping is preoperative planar scintigraphy of an injected gamma-emitting lymphatic tracer followed by intraoperative node localization using a non-imaging gamma probe with auditory feedback. In recent years, intraoperative visualization of SLNs in 3D has become possible by coupling the probe to an external system capable of tracking its location and orientation as it is read out, thereby enabling computation of the 3D distribution of the tracer (freehand SPECT).

A Lesson from Plants: High-Speed Soft Robotic Actuators.

Rapid energy-efficient movements are one of nature's greatest developments. Mechanisms like snap-buckling allow plants like the Venus flytrap to close the terminal lobes of their leaves at barely perceptible speed. Here, a soft balloon actuator is presented, which is inspired by such mechanical instabilities and creates safe, giant, and fast deformations.

Divergence of 3' ends as a driver of short interspersed nuclear element (SINE) evolution in the Salicaceae.

Short interspersed nuclear elements (SINEs) are small, non-autonomous and heterogeneous retrotransposons that are widespread in plants. To explore the amplification dynamics and evolutionary history of SINE populations in representative deciduous tree species, we analyzed the genomes of the six following Salicaceae species: Populus deltoides, Populus euphratica, Populus tremula, Populus tremuloides, Populus trichocarpa, and Salix purpurea. We identified 11 Salicaceae SINE families (SaliS-I to SaliS-XI), comprising 27 077 full-length copies.

Establishing the incidence and timing of hypoglycemia at a residential diabetes camp.

Aims: To establish the incidence and timing of hypoglycemia at a week-long residential diabetes camp for children. We hypothesized that hypoglycemia would occur more frequently during the first two days of camp and following evening all-camp games.

Methods: 225 children (mean age 12.

Laser safety in fiber-optic monitoring of spinal cord hemodynamics: a preclinical evaluation.

The prevention and treatment of spinal cord injury are focused upon the maintenance of spinal cord blood flow, yet no technology exists to monitor spinal cord ischemia. We recently demonstrated continuous monitoring of spinal cord ischemia with diffuse correlation and optical spectroscopies using an optical probe. Prior to clinical translation of this technology, it is critically important to demonstrate the safety profile of spinal cord exposure to the required light.

Low Malignancy Rates in Fine-Needle Aspiration Cytologies in a Primary Care Setting in Germany.

Background: Reported results for thyroid nodule fine-needle aspiration (FNA) cytology mainly originate from tertiary centers. However, thyroid nodule FNA cytology is mainly performed in primary care settings for which the distribution of FNA Bethesda categories and their respective malignancy rates are largely unknown. Therefore, this study investigated FNA cytology malignancy rates of a large primary care setting to determine to what extent current evidence-based strategies for the malignancy risk stratification of thyroid nodules are applied and applicable in such primary care settings.

Evolutionary modes of emergence of short interspersed nuclear element (SINE) families in grasses.

Short interspersed nuclear elements (SINEs) are non-autonomous transposable elements which are propagated by retrotransposition and constitute an inherent part of the genome of most eukaryotic species. Knowledge of heterogeneous and highly abundant SINEs is crucial for de novo (or improvement of) annotation of whole genome sequences. We scanned Poaceae genome sequences of six important cereals (Oryza sativa, Triticum aestivum, Hordeum vulgare, Panicum virgatum, Sorghum bicolor, Zea mays) and Brachypodium distachyon to examine the diversity and evolution of SINE populations.

Evaluation of a Two-Year Routine Application of Molecular Testing of Thyroid Fine-Needle Aspirations Using a Seven-Gene Panel in a Primary Referral Setting in Germany.

Background: Major differences with respect to the diagnostic performance of a "ruling in" approach in the presurgical diagnosis of indeterminate thyroid fine-needle aspirations (FNAs) have been reported. Therefore, the aim of this prospective multicenter study was to investigate the specific diagnostic impact of mutation testing using a seven-gene panel in a routine primary referral setting analyzing FNAs from endocrinology and nuclear medicine practices in Germany.

Methods: RNA and DNA was extracted from 564 routine air-dried FNA smears obtained from 64 physicians and cytologically graded by one experienced cytopathologist.