Cohort profile: the ADAPT study, a prospective study of pregnancy preferences, pregnancy, and health and well-being in the southwestern USA.

Purpose: Significant methodological shortcomings limit the validity of prior research on pregnancy decision-making and the effects of 'unintended' pregnancies on people's health and well-being. The Attitudes and Decisions After Pregnancy Testing (ADAPT) study investigates the consequences for individuals unable to attain their pregnancy and childbearing preferences using an innovative nested prospective cohort design and novel conceptualisation and measurement of pregnancy preferences.

Participants: This paper describes the characteristics of the ADAPT Study Cohort, comprised of 2015 individuals aged 15-34 years, assigned female at birth, recruited between 2019 and 2022 from 23 health facilities in the southwestern USA.

Genetic Mapping of , a New Lethal Allele of .

The mutation was generated in a Flp/FRT EMS screen for conditional mutations that cause growth and developmental defects in a genetic background that blocks apoptosis. The mutations were conditional, based on the allele being present on the starting chromosome, and blocking canonical apoptosis in a homozygous state. The mosaic eyes exhibit defects in eye development including patches of rough eye and irregular surface structure.

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5].

The Livestock Frontier in the Paraguayan Chaco: A Local Agent-based Perspective.

Deforestation is one of the most relevant transformations characterizing global environmental change in the tropics at present. There is wide consensus in pointing the context-dependent nature of tropical deforestation. In this sense, a better characterization of the phenomenon considering the social context could provide a more accurate picture of tropical deforestation.

NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders.

Whole exome and genome sequencing, coupled with refined bioinformatic pipelines, have enabled improved diagnostic yields for individuals with Mendelian conditions and have led to the rapid identification of novel syndromes. For many Mendelian neurodevelopmental disorders (NDDs), there is a lack of pre-existing model systems for mechanistic work. Thus, it is critical for translational researchers to have an accessible phenotype- and genotype-informed approach for model system selection.

Epidemiology Update of Hepatitis E Virus (HEV) in Uruguay: Subtyping, Environmental Surveillance and Zoonotic Transmission.

Hepatitis E Virus (HEV) infection is an emergent zoonotic disease of increasing concern in developed regions. HEV genotype 3 (HEV-3) is mainly transmitted through consumption of contaminated food in high-income countries and is classified into at least 13 subtypes (3a-3n), based on -distance values from complete genomes. In Latin America, HEV epidemiology studies are very scant.

Polypyrimidine Tract Binding Protein: A Universal Player in Cancer Development.

Objectives: Polypyrimidine tract binding protein is a 57-Kda protein located in the perinucleolar compartment where it binds RNA and regulates several biological functions through the regulation of RNA splicing. Numerous research articles have been published that address the cellular network and functions of PTB and its isoforms in various disease states.

Methodology: Through an extensive PubMed search, we attempt to summarize the relevant research into this biomolecule.

TBCK syndrome: a rare multi-organ neurodegenerative disease.

TBCK syndrome is an autosomal recessive disorder primarily characterized by global developmental delay, hypotonia, abnormal magnetic resonance imaging (MRI), and distinctive craniofacial phenotypes. High variability is observed among affected individuals and their corresponding variants, making clinical diagnosis challenging. Here, we discuss recent breakthroughs in clinical considerations, TBCK function, and therapeutic development.

Effects of Physical Exercise on Gross Motor Skills in Children with Autism Spectrum Disorder.

Research shows many positive effects from physical exercise. The present study examined the impact of a structured physical exercise program compared to treatment as usual on the gross motor skills of children diagnosed with autism spectrum disorder (ASD). Participants included 20 children, from 4 to 7 years old, who were assigned to two groups; an experimental group (n = 10) who received a structured physical exercise program for 60-min sessions, three times a week for eight weeks, and a control group (n = 10) who received conventional physiotherapy.

Genome-wide pooled CRISPR screening in neurospheres.

Spheroid culture systems have allowed in vitro propagation of cells unable to grow in canonical cell culturing conditions, and may capture cellular contexts that model tumor growth better than current model systems. The insights gleaned from genome-wide clustered regularly interspaced short palindromic repeat (CRISPR) screening of thousands of cancer cell lines grown in conventional culture conditions illustrate the value of such CRISPR pooled screens. It is clear that similar genome-wide CRISPR screens of three-dimensional spheroid cultures will be important for future biological discovery.

Perinucleolar Compartment (PNC) Prevalence as an Independent Prognostic Factor in Pediatric Ewing Sarcoma: A Multi-Institutional Study.

The perinucleolar compartment (PNC) is a small nuclear body that plays important role in tumorigenesis. PNC prevalence correlates with poor prognosis and cancer metastasis. Its expression in pediatric Ewing sarcoma (EWS) has not previously been documented.

Wastewater surveillance of SARS-CoV-2 genomic populations on a country-wide scale through targeted sequencing.

SARS-CoV-2 surveillance of viral populations in wastewater samples is recognized as a useful tool for monitoring epidemic waves and boosting health preparedness. Next generation sequencing of viral RNA isolated from wastewater is a convenient and cost-effective strategy to understand the molecular epidemiology of SARS-CoV-2 and provide insights on the population dynamics of viral variants at the community level. However, in low- and middle-income countries, isolated groups have performed wastewater monitoring and data has not been extensively shared in the scientific community.

Development and validation of a patient-reported outcome measure to assess symptom burden after chimeric antigen receptor T-cell therapy.

This cross-sectional study aimed to develop and validate a patient-reported outcomes (PROs) assessment tool to assess symptom burden and daily functioning in patients after chimeric antigen receptor (CAR) T-cell therapy, the MD Anderson Symptom Inventory (MDASI-CAR). The items were generated based on literature review, content elicitation interviews with patients, and clinician's review. The patients completed the MDASI core and module, single-item quality-of-life (QoL) measure and Patient-Reported Outcomes Measurement Information System-29 (PROMIS-29).

FOXR2 Is an Epigenetically Regulated Pan-Cancer Oncogene That Activates ETS Transcriptional Circuits.

Unlabelled: Forkhead box R2 (FOXR2) is a forkhead transcription factor located on the X chromosome whose expression is normally restricted to the testis. In this study, we performed a pan-cancer analysis of FOXR2 activation across more than 10,000 adult and pediatric cancer samples and found FOXR2 to be aberrantly upregulated in 70% of all cancer types and 8% of all individual tumors. The majority of tumors (78%) aberrantly expressed FOXR2 through a previously undescribed epigenetic mechanism that involves hypomethylation of a novel promoter, which was functionally validated as necessary for FOXR2 expression and proliferation in FOXR2-expressing cancer cells.

NanoString Digital Molecular Profiling of Protein and microRNA in Rhabdomyosarcoma.

Purpose: Rhabdomyosarcoma (RMS) exhibits a complex prognostic algorithm based on histologic, biologic and clinical parameters. The embryonal (ERMS) and spindle cell-sclerosing RMS (SRMS) histologic subtypes warrant further studies due to their heterogenous genetic background and variable clinical behavior. NanoString digital profiling methods have been previously highlighted as robust novel methods to detect protein and microRNA expression in several cancers but not in RMS.

PPM1D mutations are oncogenic drivers of de novo diffuse midline glioma formation.

The role of PPM1D mutations in de novo gliomagenesis has not been systematically explored. Here we analyze whole genome sequences of 170 pediatric high-grade gliomas and find that truncating mutations in PPM1D that increase the stability of its phosphatase are clonal driver events in 11% of Diffuse Midline Gliomas (DMGs) and are enriched in primary pontine tumors. Through the development of DMG mouse models, we show that PPM1D mutations potentiate gliomagenesis and that PPM1D phosphatase activity is required for in vivo oncogenesis.

MYOD1 as a prognostic indicator in rhabdomyosarcoma.

Background/objectives: Rhabdomyosarcoma (RMS) is characterized by the expression of the myogenic regulatory protein MYOD1. Histologic types include alveolar, embryonal (ERMS), and spindle cell sclerosing RMS (SRMS). SRMS harbors MYOD1 mutations in a subset of adult cases in association with poor prognosis.

Ultrasound Elastography in the Assessment of the Stiffness of Spastic Muscles: A Systematic Review.

The incidence of muscle spasticity is high in patients with diseases of the central nervous system. This condition leads to significant limitations in movement and impaired functional capacities. Muscle spasticity manifests as changes in the mechanical properties of the muscles.

The SADDEN DEATH Study: Results from a Pilot Study in Non-ICU COVID-19 Spanish Patients.

The worldwide pandemic, coronavirus disease 2019 (COVID-19) is a novel infection with serious clinical manifestations, including death. Our aim is to describe the first non-ICU Spanish deceased series with COVID-19, comparing specifically between unexpected and expected deaths. In this single-centre study, all deceased inpatients with laboratory-confirmed COVID-19 who had died from March 4 to April 16, 2020 were consecutively included.

Checking the Pulse of Holistic and Culturally Competent Nursing Practice in Pennsylvania.

Traditionally, underrepresented racial and ethnic groups experience marginalization, leading to inequities and disparities in health and health care. A holistic approach to care delivery can help providers meet a culturally diverse patient population's unique healing needs. A systematic assessment of nurses' cultural competency practice was conducted in Pennsylvania to reveal opportunities and provide direction for holistic, culturally competent health care services.

CloneSifter: enrichment of rare clones from heterogeneous cell populations.

Background: Many biological processes, such as cancer metastasis, organismal development, and acquisition of resistance to cytotoxic therapy, rely on the emergence of rare sub-clones from a larger population. Understanding how the genetic and epigenetic features of diverse clones affect clonal fitness provides insight into molecular mechanisms underlying selective processes. While large-scale barcoding with NGS readout has facilitated cellular fitness assessment at the population level, this approach does not support characterization of clones prior to selection.

[Hypopharyngeal injury due to displacement of brackets arch. Case report].

Involuntary ingestion or aspiration of a brace device and/ or orthodontic arch part can constitute a medical emergency with potentially dangerous complications. The objective of this communication is to describe a rare complication of posterior displacement and ingestion of the brace arch. A 13-year-old girl, suffers from a break in orthodontia during feeding, with the subsequent ingestion of part of it.

Economic and workload impact of therapeutic interchange of inhaler medications and nebulizer solutions.

Purpose: To examine the financial impact of automatic formulary substitution of nebulization solutions for pressurized metered dose inhalers and dry powder inhalers and the effect of the automatic substitution initiative on respiratory care practitioner (RCP) workload at a community hospital.

Methods: A retrospective observational study was conducted in a 326-bed nonacademic community hospital. Adult patients who received respiratory medications and had an inpatient stay, were admitted for observation, or had an emergency room visit from December 2016 through February 2017 (the control group) or from December 2017 through February 2018 (the study group) were included in the analysis.

IGF1R immunohistochemistry in Ewing's sarcoma as predictor of response to targeted therapy.

Objectives: Ewing's sarcoma is an aggressive malignancy of bone and soft tissue in children and young adults. Despite advances in modern therapy, metastasis can occur and results in high mortality. The objective of this study was to identify whether the signaling transduction proteins, insulin growth factor receptor (IGF1R) and S6 kinase (S6K), can predict poor prognosis in Ewing's sarcoma.