Protein kinase CK2 sustains de novo fatty acid synthesis by regulating the expression of SCD-1 in human renal cancer cells.

Background: Clear cell renal cell carcinoma (ccRCC) is a type of cancer characterized by a vast intracellular accumulation of lipids that are critical to sustain growth and viability of the cells in the tumour microenvironment. Stearoyl-CoA 9-desaturase 1 (SCD-1) is an essential enzyme for the synthesis of monounsaturated fatty acids and consistently overexpressed in all stages of ccRCC growth.

Methods: Human clear cell renal cell carcinoma lines were treated with small-molecule inhibitors of protein kinase CK2.

Differential impact of impaired steryl ester biosynthesis on the metabolome of tomato fruits and seeds.

Steryl esters (SE) are a storage pool of sterols that accumulates in cytoplasmic lipid droplets and helps to maintain plasma membrane sterol homeostasis throughout plant growth and development. Ester formation in plant SE is catalyzed by phospholipid:sterol acyltransferase (PSAT) and acyl-CoA:sterol acyltransferase (ASAT), which transfer long-chain fatty acid groups to free sterols from phospholipids and acyl-CoA, respectively. Comparative mass spectrometry-based metabolomic analysis between ripe fruits and seeds of a tomato (Solanum lycopersicum cv Micro-Tom) mutant lacking functional PSAT and ASAT enzymes (slasat1xslpsat1) shows that disruption of SE biosynthesis has a differential impact on the metabolome of these organs, including changes in the composition of free and glycosylated sterols.

The effect of instructional therapeutic play on acceptance behavior of nasal lavage in hospitalized children.

Purpose: To evaluate the effect of instructional therapeutic play on acceptance of nasal lavage in children hospitalized for respiratory conditions.

Design And Methods: This quasi-experimental study was conducted at a teaching hospital. For the therapeutic play session, disposable gloves filled with compressed air and designed to resemble a human face, syringes, and saline solution ampoules were used.

Hearing What You Can't See: Influence of Face Masks on Speech Perception and Eye Movement by Adults With Hearing Loss.

Purpose: The aim of the study was to analyze how face masks influence speech perception and time spent looking at the speaker's mouth and eyes by adults with and without hearing loss.

Method: Twenty participants with hearing loss and 20 without were asked to repeat Spanish words presented in various conditions, including different types of face masks (no mask, transparent window mask, and opaque mask FFP2) and presentation modes (audiovisual, video only, and audio only). Recognition accuracy and the percentage of time looking at the speaker's eyes and mouth (dwell time) were measured.

Acceptability of multimodal and multidisciplinary group-based program for chronic low back pain: a qualitative study.

Background: The Programa d'Atenció Integral pels Pacients amb Dolor Crònic (PAINDOC) is a multimodal and multidisciplinary group-based program that integrates pain neuroscience education, mindfulness meditation, pain psychotherapy, Empowered Relief, and therapeutic exercise. It serves as a therapeutic option for individuals with chronic low back pain, providing them with comprehensive adaptive strategies for pain management.

Objective: This qualitative study explores participants' retrospective acceptability of the PAINDOC Program.

Complex Karyotype Detection in Chronic Lymphocytic Leukemia: A Comparison of Parallel Cytogenetic Cultures Using TPA and IL2+DSP30 from a Single Center.

Current CLL guidelines recommend a two parallel cultures assessment using TPA and IL2+DSP30 mitogens for complex karyotype (CK) detection. Studies comparing both mitogens for CK identification in the same cohort are lacking. We analyzed the global performance, CK detection, and concordance in the complexity assessment of two cytogenetic cultures from 255 CLL patients.

Process understanding and monitoring: A glimpse into data strategies for miniaturized NIR spectrometers.

Background: The implementation of process analytical technologies (PAT) has gained attention since 2004 when its formal introduction through the U.S. Food and Drug Administration was introduced.

Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.

Background: X-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing one of two copies of the X chromosome in each cell. The preferential inactivation of either the maternal or paternal copy of the X chromosome in a majority of cells results in a skewed or non-random pattern of X inactivation and is observed in over 25% of adult females. Identifying skewed X inactivation is of clinical significance in patients with suspected rare genetic diseases due to the possibility of biased expression of disease-causing genes present on the active X chromosome.

Is Unilateral Lymphadenectomy an Option in Selected Patients with Prostate Cancer?

Background: Evidence regarding the relationship between the laterality of lymph node invasion (LNI) and the prostatic lobe affected is limited. Our aim was to review our records of patients with exclusively unilateral localised prostate cancer (PCa) with metastatic LN involvement.

Methods: Between 2006 and 2023, after radical prostatectomy and extended pelvic lymphadenectomy at our centre, thirty patients with intermediate-high risk unilateral PCa and pN1 disease were identified.

Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.

Most rare disease patients (75-50%) undergoing genomic sequencing remain unsolved, often due to lack of information about variants identified. Data review over time can leverage novel information regarding disease-causing variants and genes, increasing this diagnostic yield. However, time and resource constraints have limited reanalysis of genetic data in clinical laboratories setting.

Temperature sensitivity and temperature response across development in the larva.

The surrounding thermal environment is highly important for the survival and fitness of animals, and as a result most exhibit behavioral and neural responses to temperature changes. We study signals generated by thermosensory neurons in larvae and also the physical and sensory effects of temperature variation on locomotion and navigation. In particular we characterize how sensory neuronal and behavioral responses to temperature variation both change across the development of the larva.

Continuous innovation in precision radio-guided surgery.

Since its origins, nuclear medicine has faced technological changes that led to modifying operating modes and adapting protocols. In the field of radioguided surgery, the incorporation of preoperative scintigraphic imaging and intraoperative detection with the gamma probe provided a definitive boost to sentinel lymph node biopsy to become a standard procedure for melanoma and breast cancer. The various technological innovations and consequent adaptation of protocols come together in the coexistence of the disruptive and the gradual.

Experimental and Computational Approaches to Measure Telomere Length: Recent Advances and Future Directions.

Purpose Of Review: The length of telomeres, protective structures at the chromosome ends, is a well-established biomarker for pathological conditions including multisystemic syndromes called telomere biology disorders. Approaches to measure telomere length (TL) differ on whether they estimate average, distribution, or chromosome-specific TL, and each presents their own advantages and limitations.

Recent Findings: The development of long-read sequencing and publication of the telomere-to-telomere human genome reference has allowed for scalable and high-resolution TL estimation in pre-existing sequencing datasets but is still impractical as a dedicated TL test.

Being a deaf student in a face mask world: Survey data from Italian university students.

In response to the COVID-19 pandemic, universities made face masks mandatory during face-to-face classes and/or switched to virtual classes. Such situations pose a challenge for students with hearing loss as they generate listening conditions that make speech comprehension difficult. This study aimed to explore the listening difficulties perceived by Italian university students with hearing loss (HL) and typical hearing (TH) as well as their adoption of self-advocacy strategies .

Mechanical vibration patterns elicit behavioral transitions and habituation in crawling larvae.

How animals respond to repeatedly applied stimuli, and how animals respond to mechanical stimuli in particular, are important questions in behavioral neuroscience. We study adaptation to repeated mechanical agitation using the larva. Vertical vibration stimuli elicit a discrete set of responses in crawling larvae: continuation, pause, turn, and reversal.

Patients with telomere biology disorders show context specific somatic mosaic states with high frequency of U2AF1 variants.

Somatic mosaic states in telomere biology disorders are characterized by somatic variants in the spliceosome and DNA damage response and repair pathways. A likely maladaptive response to short telomeres that may lead to increased hematological cancer.

Assessment of school readiness and the importance of executive functions for learning.

Objective: Considering the importance of the beginning of the academic trajectory for children to reach their full development, this work aims to evaluate the school readiness of preschool-age children and identify which factors influence these results, in order to contribute to the proposition of strategies that allow improving the teaching-learning process and child development.

Methods: This is a cross-sectional, descriptive and analytical study with 443 preschool children belonging to the West Region Cohort (ROC Cohort), from the public school system of the city of São Paulo. School readiness was assessed by the International Development and Early Learning Assessment (IDELA) tool.

Prognostic relevance of clonal hematopoiesis in myeloid neoplastic transformation in patients with follicular lymphoma treated with radioimmunotherapy.

While novel radioisotope therapies continue to advance cancer care, reports of therapy-related myeloid neoplasms (t-MN) have generated concern. The prevalence and role of clonal hematopoiesis (CH) in this process remain to be defined. We hypothesized that: (i) CH is prevalent in relapsed follicular lymphoma and is associated with t-MN transformation, and (ii) radiation in the form of radioimmunotherapy (RIT) plays a role in clonal progression.

Mother-infant bonding and postpartum depression during the COVID-19 pandemic - a risk for nurturing care and child development.

Objective: The COVID-19 pandemic Increased the risk of impairing the mother-infant bonding. The objectives of this study were to evaluate the early bond established between mother and infant and postpartum depression (PPD) in pregnancies that occurred during the pandemic period, to identify the factors that may have influenced these outcomes and to verify if there was an association between bonding and probable PPD.

Methods: This is a cross-sectional study of postpartum women from a public maternity hospital in the city of São Paulo conducted from February to June 2021, involving 127 mother-baby dyads.