Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.

Heterozygous deleterious null alleles and specific missense variants in the DNA-binding domain of the ETS2 repressor factor (ERF) cause craniosynostosis, while the recurrent p.(Tyr89Cys) missense variant is associated with Chitayat syndrome. Exome and whole transcriptome sequencing revealed the ERF de novo in-frame indel c.

Assessing the Role of GRP7 Arginine 141, a Target of Dimethylation by PRMT5, in Flowering Time Control and Stress Response.

PROTEIN ARGININE METHYLTRANSFERASES (PRMTs) catalyze arginine (R) methylation that is critical for transcriptional and post-transcriptional gene regulation. In Arabidopsis, PRMT5 that catalyzes symmetric R dimethylation is best characterized. PRMT5 mutants are late-flowering and show altered responses to environmental stress.

Effects of school start time and its interaction with the solar clock on adolescents' chronotype and sleep: A systematic review and meta-analysis.

Adolescents' late chronotypes colliding with early school start times (SSTs) are associated with students' unhealthy sleep habits. Most studies comparing different SSTs associate later SSTs with longer sleep duration and lower social jetlag. However, the magnitude of the effect varies between studies and the effect of different SSTs on chronotype is not well established.

Proteinuria and hematuria as early signs of renal involvement in juvenile idiopathic arthritis.

Objectives: To evaluate glomerular and tubular renal functions and analyze blood pressure in a cohort of pediatric patients with juvenile idiopathic arthritis (JIA).

Methods: A total of 40 pediatric patients, 20 (50%) with JIA and 20 (50%) healthy control subjects, were studied, and performed the renal function on 24-h collection and the 24-h ambulatory blood pressure monitoring (ABPM). Moreover, we compared renal function and blood pressure trends between the groups of JIA patients with different disease activities.

Arginine methylation of SM-LIKE PROTEIN 4 antagonistically affects alternative splicing during Arabidopsis stress responses.

Arabidopsis (Arabidopsis thaliana) PROTEIN ARGININE METHYLTRANSFERASE5 (PRMT5) post-translationally modifies RNA-binding proteins by arginine (R) methylation. However, the impact of this modification on the regulation of RNA processing is largely unknown. We used the spliceosome component, SM-LIKE PROTEIN 4 (LSM4), as a paradigm to study the role of R-methylation in RNA processing.

Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder.

Rare heterozygous variants in exons 33-34 of the SRCAP gene are associated with Floating-Harbor syndrome and have a dominant-negative mechanism of action. At variance, heterozygous null alleles falling in other parts of the same gene cause developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities (DEHMBA) syndrome. We report an 18-year-old man with DEHMBA syndrome and obstructive sleep apnea, who underwent exome sequencing (ES) and whole transcriptome sequencing (WTS) on peripheral blood.

The circadian clock and thermal regulation in plants: novel insights into the role of positive circadian clock regulators in temperature responses.

The impact of rising global temperatures on crop yields is a serious concern, and the development of heat-resistant crop varieties is crucial for mitigating the effects of climate change on agriculture. To achieve this, a better understanding of the molecular basis of the thermal responses of plants is necessary. The circadian clock plays a central role in modulating plant biology in synchrony with environmental changes, including temperature fluctuations.

Therapeutic Approach to Post-Transplant Recurrence of Hepatocellular Carcinoma: Certainties and Open Issues.

Hepatocellular carcinoma (HCC) is a growing indication for liver transplantation (LT). Careful candidate selection is a prerequisite to keep post-LT recurrence rates within acceptable percentages. In the pre-LT period, various types of locoregional treatments and/or systemic therapies can be used for bridging or downstaging purposes.

Hereditary coagulation factor XI deficiency: a rare or neglected disease? Results from a retrospective, single-centre cohort in northern Italy.

To examine real-life clinical data regarding hereditary factor XI (FXI) deficiency from a secondary care centre. Retrospective review of clinical records for every FXI:C 0.7 IU/ml or less reported from 2012 to 2020.

[Human monkeypox: epidemiological and clinical characteristics of a series of cases].

Introduction: Monkeypox It is a zoonotic disease. The etiologic agent is the monkeypox virus. Since January 1, 2022, monkeypox cases have been reported to the World Health Organization (WHO) in 110 Member States across 6 WHO regions.

Antiphospholipid Syndrome: State of the Art of Clinical Management.

Antiphospholipid syndrome (APS) is a systemic autoimmune disorder clinically characterized by recurrent arterial and venous thrombosis and/or pregnancy morbidity in the presence of antiphospholipid antibodies. Currently, treatment is mainly focused on anticoagulation, but therapies targeting mechanisms involved in APS autoimmune pathogenesis could play an important role in specific settings. An evidence-based therapeutic approach is limited by the broad clinical spectrum of the syndrome and the nature of a "rare disease" that makes it difficult to carry out well-designed prospective studies.

Unearthed opium: development of a UHPLC-MS/MS method for the determination of alkaloids in Daunian vessels.

The analysis of organic residue in ancient vessels to investigate early-age civilization habits is an important archeological application that needs advanced analytical methods. However, these procedures should meet inherent requisites such as low sampling invasiveness and high sensitivity for trace analysis. This study deals with the development of advanced analytical methods for the detection of opium alkaloids in ceramic vessels and its first application to the study of Daunian pots dating back to the VIII-IV sec BC.

Solar clock and school start time effects on adolescents' chronotype and sleep: A review of a gap in the literature.

Circadian rhythms are entrained by external factors such as sunlight and social cues, but also depend on internal factors such as age. Adolescents exhibit late chronotypes, but worldwide school starts early in the morning leading to unhealthy sleep habits. Several studies reported that adolescents benefit from later school start times.

A better alignment between chronotype and school timing is associated with lower grade retention in adolescents.

Schools start early in the morning all over the world, contrasting with adolescents' late chronotype. Interestingly, lower academic performance (i.e.

Standardized nailfold capillaroscopy in children with rheumatic diseases: a worldwide study.

Objectives: To standardly assess and describe nailfold videocapillaroscopy (NVC) assessment in children and adolescents with juvenile rheumatic and musculoskeletal diseases (jRMD) vs healthy controls (HCs).

Material And Methods: In consecutive jRMD children and matched HCs from 13 centres worldwide, 16 NVC images per patient were acquired locally and read centrally per international consensus standard evaluation of the EULAR Study Group on Microcirculation in Rheumatic Diseases. A total of 95 patients with JIA, 22 with JDM, 20 with childhood-onset SLE (cSLE), 13 with juvenile SSc (jSSc), 21 with localized scleroderma (lSc), 18 with MCTD and 20 with primary RP (PRP) were included.

Handgrip strength is associated with adverse outcomes in patients hospitalized for COVID-19-associated pneumonia.

Handgrip strength (HGS), a simple tool for the evaluation of muscular strength, is independently associated with negative prognosis in many diseases. It is unknown whether HGS is prognostically relevant in COVID-19. We evaluated the ability of HGS to predict clinical outcomes in people with COVID-19-related pneumonia.

Screening for common respiratory viruses in pediatric outpatients 2 years after the onset of the COVID-19 pandemic.

Introduction: During 2020, circulation of other respiratory viruses was lower than usual. Most likely, as mitigation measures for coronavirus disease 2019 (COVID-19) were modified, their prevalence in 2021 may have increased.

Objective: To estimate the prevalence of common respiratory viruses among patients aged 0-5 years seen at the Emergency Department of a children's hospital in the City of Buenos Aires.

Lifestyle Changes and Psychological Well-Being in Older Adults During COVID-19 Pandemic.

COVID-19 pandemic forced countries to adopt strategies aimed at responding to the health emergency by containing contagion. Lockdowns have ensured the achievement of this goal but imposed substantial restrictions to the freedom of movement and resulted in social isolation for a large share of vulnerable people. The aim of the present study was to evaluate the impact of COVID-19 pandemic and associated emergency restriction measures on the quality of life, lifestyle habits, and psychosocial status in older adults.

Chronotype at the beginning of secondary school and school timing are both associated with chronotype development during adolescence.

The misalignment between late chronotypes and early school start times affect health, performance and psychological well-being of adolescents. Here we test whether, and how, the baseline chronotype (i.e.

Background music changes the policy of human decision-making: Evidence from experimental and drift-diffusion model-based approaches on different decision tasks.

Music is ubiquitous in our lives. Although we listen to music as an activity in and of itself, music is frequently played while we are engaged in other activities that rely on decision-making (e.g.

Rarities in rare: illuminating the microvascular and dermal status in juvenile localised scleroderma. A case series.

Objectives: To assess the (structural and functional) characteristics of the microvascular and dermal status in juvenile localised scleroderma (jLoS), using novel non-invasive standardised research tools commonly used in adult systemic sclerosis (SSc).

Methods: Ten consecutive patients with a confirmed jLoS diagnosis were studied cross-sectionally in this two-centre case series. For each patient, the most prominent lesion (i.