Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.

Introduction: Acute onset of severe psychiatric symptoms or regression may occur in children with premorbid neurodevelopmental disorders, although typically developing children can also be affected. Infections or other stressors are likely triggers. The underlying causes are unclear, but a current hypothesis suggests the convergence of genes that influence neuronal and immunological function.

Molecular and network disruptions in neurodevelopment uncovered by single cell transcriptomics analysis of heterozygous cerebral organoids.

More than 100 genes have been associated with significantly increased risks of autism spectrum disorders (ASD) with an estimate of ∼1000 genes that may contribute. The new challenge is to investigate the molecular and cellular functions of these genes during neural and brain development, and then even more challenging, to link the altered molecular and cellular phenotypes to the ASD clinical manifestations. In this study, we used single-cell RNA-seq analysis to study one of the top risk genes, , in cerebral organoids, which models early neural development.

Vertical Migration of Second-stage Juveniles of as Influenced by Temperature and Host.

Infective second-stage juveniles (J2) of spp. migrate towards host roots, which depends on several factors, including root exudates and soil temperature. Although is a highly virulent nematode that affects major agricultural crops worldwide, there is limited ecological data about it.

KDM5-mediated transcriptional activation of ribosomal protein genes alters translation efficiency to regulate mitochondrial metabolism in neurons.

Genes encoding the KDM5 family of transcriptional regulators are disrupted in individuals with intellectual disability (ID). To understand the link between KDM5 and ID, we characterized five Drosophila strains harboring missense alleles analogous to those observed in patients. These alleles disrupted neuroanatomical development, cognition and other behaviors, and displayed a transcriptional signature characterized by the downregulation of many ribosomal protein genes.

Genetic Variants at the 9p21.3 Locus Are Associated with Risk for Non-Compressible Artery Disease: Results from the ARTPER Study.

Peripheral artery disease (PAD) and non-compressible artery disease (NCAD) constitute predictors of subclinical atherosclerosis easily assessed through the ankle brachial index (ABI). Although both diseases show substantial genetic influences, few genetic association studies have focused on the ABI and PAD, and none have focused on NCAD. To overcome these limitations, we assessed the role of several candidate genes on the ABI, both in its continuous distribution and in the clinical manifestations associated to its extreme values: PAD and NCAD.

Discontinuous Dissolution Mechanism of Olivine Deduced from a Topography Observation Method.

Olivine dissolution plays an important role in environmental science and technology, from controlling global element circulation to carbon capture for climate change mitigation. Most studies have been focused on investigating its dissolution rates by monitoring chemical effluent changes under various conditions. However, only by observation of surface reactivity can we unravel the actual mechanism (s) of dissolution.

Molecular and network disruptions in neurodevelopment uncovered by single cell transcriptomics analysis of heterozygous cerebral organoids.

About 100 genes have been associated with significantly increased risks of autism spectrum disorders (ASD) with an estimate of ~1000 genes that may be involved. The new challenge now is to investigate the molecular and cellular functions of these genes during neural and brain development, and then even more challenging, to link the altered molecular and cellular phenotypes to the ASD clinical manifestations. In this study, we use single cell RNA-seq analysis to study one of the top risk gene, , in cerebral organoids, which models early neural development.

Proteomics and phosphoproteomics profiling in glutamatergic neurons and microglia in an iPSC model of Jansen de Vries Syndrome.

Background: Jansen de Vries Syndrome (JdVS) is a rare neurodevelopmental disorder (NDD) caused by gain-of-function (GOF) truncating mutations in exons 5 or 6. PPM1D is a serine/threonine phosphatase that plays an important role in the DNA damage response (DDR) by negatively regulating TP53 (P53). JdVS-associated mutations lead to the formation of a truncated PPM1D protein that retains catalytic activity and has a GOF effect because of reduced degradation.

Correction: Díaz-García et al. Genotyping of Blood Culture Isolates from Patients Admitted to 16 Hospitals in Madrid: Genotype Spreading during the COVID-19 Pandemic Driven by Fluconazole-Resistant . 2022, , 1228.

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Invasive Pulmonary Aspergillosis in Patients with and without SARS-CoV-2 Infection.

The recent European Confederation of Medical Mycology (ECMM) and the International Society for Human and Animal Mycology (ISHAM) 2020 consensus classification proposes criteria to define coronavirus 2019 (COVID-19)-associated invasive pulmonary aspergillosis (CAPA), including mycological evidence obtained via non-bronchoscopic lavage. Given the low specificity of radiological findings in patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, this criterion makes it difficult to differentiate between invasive pulmonary aspergillosis (IPA) and colonization. This unicenter and retrospective study includes 240 patients with isolates of any species in any respiratory samples during a 20-month study (140 IPA and 100 colonization).

Genotyping of Blood Culture Isolates from Patients Admitted to 16 Hospitals in Madrid: Genotype Spreading during the COVID-19 Pandemic Driven by Fluconazole-Resistant .

Background: Candidaemia and invasive candidiasis are typically hospital-acquired. Genotyping isolates from patients admitted to different hospitals may be helpful in tracking clones spreading across hospitals, especially those showing antifungal resistance.

Methods: We characterized clusters by studying isolates (, = 1041; , = 354, and , = 125) from blood cultures (53.

Is the ASA Classification Universal?

Objective: The physical status classification of the American Society of Anaesthesiology (ASA) is the most used score in the preoperative evaluation, but inconsistent evaluations and low reliability have been reported. The aim of this study is to evaluate the variability in the evaluation of ASA physical status classification among Portuguese anaesthesiologists.

Methods: Cross-sectional study, in which an electronic questionnaire, was distributed to Portuguese anaesthesiologists with questions regarding their demographic characteristics, professional experience, place of work and how they would categorise 15 clinical cases regarding ASA classification.

Use of contrast-enhanced ultrasound in pediatrics.

Although contrast-enhanced ultrasound has been shown to provide considerable benefits, particularly in pediatric patients, it is still used relatively rarely in Brazil. It has proven to be a safe technique, and adverse effects are rare. In this review, we address the technique and main applications of contrast-enhanced ultrasound in the pediatric population, including the evaluation of focal liver lesions, abdominal trauma, kidney grafts, liver grafts, bowel loops, and vesicoureteral reflux.

Temperature: a driving factor for migration toward different hosts.

The peach root-knot nematode, , is an emerging species and may become a threat to peach growers if contamination and spread are not avoided. The influence of temperature and two plants - tomato () and French marigold () - on the vertical migration of second-stage juveniles (J2) of was studied using 14-cm long segmented soil columns. Plants were transplanted into cups attached to the top of each column.

Contraception and reproductive planning from the perspective of women with sickle cell disease.

Objective: To understand the perceptions of women with sickle cell disease (SCD) about reproductive planning in a public health service.

Method: This is a qualitative study conducted with 15 women with SCD attended at a public hospital in Recife, between August 2018 and May 2019. Bardin's content analysis technique was used.

Lack of relationship between genotype and virulence in Candida species.

Background: The virulence of isolates among different Candida species causing candidemia may play a role in the prognosis of the patients. Furthermore, the potential relationship between genotype and virulence is still unclear and need to be further studied.

Aims: We aim to assess the relationship between genotype and virulence in Candida species using a Galleria mellonella larvae infection model.

Genotyping Reveals High Clonal Diversity and Widespread Genotypes of Causing Candidemia at Distant Geographical Areas.

The objectives of this study were to gain further insight on genotype distribution and percentage of clustered isolates between hospitals and to identify potential clusters involving different hospitals and cities. We aim to genotype spp. isolates causing candidemia in patients admitted to 16 hospitals in Spain, Italy, Denmark, and Brazil.

Aerosolized Lipid Amphotericin B for Complementary Therapy and/or Secondary Prophylaxis in Patients with Invasive Pulmonary Aspergillosis: A Single-Center Experience.

Background: Experience with aerosolized lipid amphotericin B (aeLAB) as therapy or secondary prophylaxis in patients with invasive pulmonary aspergillosis (IPA) is anecdotal.

Methods: We performed a single-center retrospective cohort study to evaluate the efficacy of systemic antifungal therapy with and without aeLAB in patients with proven or probable IPA. Complete or partial response at 3 months was the primary end-point.