Trends in the Staff's Perception of Patient Safety Culture in Romanian Hospitals.

Introduction: The IRIS-2 project (2019) expanded the application of the HSOPSC in Romanian hospitals, yet applied, for the first time in the country, in 2014 (IRIS-1). The aim is an update on patient safety culture for staff, by geographic region and overall, by year of survey.

Materials And Methods: A cross-sectional study was carried out in voluntary staff in four hospitals in four regions (n.

Establishment of F1 hybrid mortality in real time.

Background: Measuring the evolutionary rate of reproductive isolation is essential to understanding how new species form. Tempo calculations typically rely on fossil records, geological events, and molecular evolution analyses. The speed at which genetically-based hybrid mortality arises, or the "incompatibility clock", is estimated to be millions of years in various diploid organisms and is poorly understood in general.

Clinical detection of deletion structural variants in whole-genome sequences.

Optimal management of acutely ill infants with monogenetic diseases requires rapid identification of causative haplotypes. Whole-genome sequencing (WGS) has been shown to identify pathogenic nucleotide variants in such infants. Deletion structural variants (DSVs, >50 nt) are implicated in many genetic diseases, and tools have been designed to identify DSVs using short-read WGS.

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Heterotaxy results from a failure to establish normal left-right asymmetry early in embryonic development. By whole-exome sequencing, whole-genome sequencing and high-throughput cohort resequencing, we identified recessive mutations in MMP21 (encoding matrix metallopeptidase 21) in nine index cases with heterotaxy. In addition, Mmp21-mutant mice and mmp21-morphant zebrafish displayed heterotaxy and abnormal cardiac looping, respectively, suggesting a new role for extracellular matrix remodeling in the establishment of laterality in vertebrates.

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Background: Genetic disorders and congenital anomalies are the leading causes of infant mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units (NICU and PICU) is not sufficiently timely to guide acute clinical management. We used rapid whole-genome sequencing (STATseq) in a level 4 NICU and PICU to assess the rate and types of molecular diagnoses, and the prevalence, types, and effect of diagnoses that are likely to change medical management in critically ill infants.

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable to single-gene mutations at more than 1000 loci. Traditional methods yield molecular diagnoses in less than one-half of children with NDD. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) can enable diagnosis of NDD, but their clinical and cost-effectiveness are unknown.

Low grade B cell lymphoma arising in a background of multifocal extra-adrenal myelolipoma.

Myelolipomas are rare, benign, non-functioning tumors composed of an admixture of mature adipose tissue and hematopoietic elements. Extra-adrenal myelolipomas are extremely rare, but have been reported in multiple sites including the omentum, presacral, and retroperitoneal areas, along with the thorax, kidneys, liver and stomach. We report a case of a 68-year-old man with low-grade B-cell lymphoma arising in a background of recurrent multifocal extra-adrenal myelolipoma.

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease presentations are often undifferentiated at birth. More than 3500 monogenic diseases have been characterized, but clinical testing is available for only some of them and many feature clinical and genetic heterogeneity. Hence, an immense unmet need exists for improved molecular diagnosis in infants.

A Whole-Chromosome Analysis of Meiotic Recombination in Drosophila melanogaster.

Although traditional genetic assays have characterized the pattern of crossing over across the genome in Drosophila melanogaster, these assays could not precisely define the location of crossovers. Even less is known about the frequency and distribution of noncrossover gene conversion events. To assess the specific number and positions of both meiotic gene conversion and crossover events, we sequenced the genomes of male progeny from females heterozygous for 93,538 X chromosomal single-nucleotide and InDel polymorphisms.

Identification of EMS-induced mutations in Drosophila melanogaster by whole-genome sequencing.

Next-generation methods for rapid whole-genome sequencing enable the identification of single-base-pair mutations in Drosophila by comparing a chromosome bearing a new mutation to the unmutagenized sequence. To validate this approach, we sought to identify the molecular lesion responsible for a recessive EMS-induced mutation affecting egg shell morphology by using Illumina next-generation sequencing. After obtaining sufficient sequence from larvae that were homozygous for either wild-type or mutant chromosomes, we obtained high-quality reads for base pairs composing approximately 70% of the third chromosome of both DNA samples.

Aneuploidy underlies rapid adaptive evolution of yeast cells deprived of a conserved cytokinesis motor.

The ability to evolve is a fundamental feature of biological systems, but the mechanisms underlying this capacity and the evolutionary dynamics of conserved core processes remain elusive. We show that yeast cells deleted of MYO1, encoding the only myosin II normally required for cytokinesis, rapidly evolved divergent pathways to restore growth and cytokinesis. The evolved cytokinesis phenotypes correlated with specific changes in the transcriptome.