Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microduplication family.

Objective: To report a rare 17q12 microduplication family.

Case Report: A 29-year-old woman (gravida 1, para 0) underwent amniocentesis at 21 weeks' gestation because of double bubble sign and polyhydramnios of the fetus on prenatal ultrasound. Chromosomal microarray analysis (CMA) from this family revealed a 1.

Enhanced crude oil degradation observed in sea ice following bioaugmentation with arctic bacteria.

Petroleum-derived contamination is a growing hazard for the Arctic Ocean and northern marine transportation corridors. In northern settings where the accessibility to oil spills can be limited, natural attenuation is the most promising remediation process. The goal of the presented research is to evaluate the impact of biodegradation on crude oil inside sea ice.

Gonadal sex and temperature independently influence germ cell differentiation and meiotic progression in .

In species with genetic sex determination (GSD), the sex identity of the soma determines germ cell fate. For example, in mice, XY germ cells that enter an ovary differentiate as oogonia, whereas XX germ cells that enter a testis initiate differentiation as spermatogonia. However, numerous species lack a GSD system and instead display temperature-dependent sex determination (TSD).

Collaborative management partnerships strongly decreased deforestation in the most at-risk protected areas in Africa since 2000.

Collaborative management partnerships (CMPs) between state wildlife authorities and nonprofit conservation organizations to manage protected areas (PAs) have been used increasingly across Sub-Saharan Africa since the 2000s. They aim to attract funding, build capacity, and increase the environmental effectiveness of PAs. Our study documents the rise of CMPs, examines their current extent, and measures their effectiveness in protecting habitats.

FASN inhibition shows the potential for enhancing radiotherapy outcomes by targeting glycolysis, AKT, and ERK pathways in breast cancer.

Purpose: Breast cancer ranks as the most prevalent cancer in women, characterized by heightened fatty acid synthesis and glycolytic activity. Fatty acid synthase (FASN) is prominently expressed in breast cancer cells, regulating fatty acid synthesis, thereby enhancing tumor growth and migration, and leading to radioresistance. This study aims to investigate how FASN inhibition affects cell proliferation, migration, and radioresistance in breast cancer, as well as the mechanisms involved.

Plasma neutrophil gelatinase-associated lipocalin as a single test rule out biomarker for acute kidney injury: A cross-sectional study in patients admitted to the emergency department.

Objectives: Acute kidney injury (AKI) is a syndrome with high mortality and morbidity in part due to delayed recognition based on changes in creatinine. A marker for AKI based on a single measurement is needed and therefore the performance of a single measurement of plasma neutrophil gelatinase-associated lipocalin (pNGAL) to predict AKI in patients admitted to the emergency department was tested.

Methods: Samples from the Triage study which included 6005 consecutive adult patients admitted to the emergency department were tested for pNGAL.

Predictors of Participation in Prenatal Substance Use Assessment, Counseling, and Treatment Among Pregnant Individuals in Prenatal Settings Who Use Cannabis.

Objectives: Assessment and counseling are recommended for individuals with prenatal cannabis use. We examined characteristics that predict prenatal substance use assessment and counseling among individuals who screened positive for prenatal cannabis use in prenatal settings.

Methods: Electronic health record data from Kaiser Permanente Northern California's Early Start perinatal substance use screening, assessment, and counseling program was used to identify individuals with ≥1 pregnancies positive for prenatal cannabis use.

Platelet-Rich Plasma in the Treatment of Diabetic Foot Ulcers.

Background: Chronic nonhealing neuropathic foot ulcers affect approximately 15% to 30% of patients with diabetes mellitus and are associated with significant morbidity and mortality. Although current strategies to address these chronic wounds include a multifactorial approach, clinical outcomes remain poor and warrant improvement. Platelet-rich plasma (PRP), derived from autologous or allogeneic blood, is an emerging regenerative product that aims to serve as an adjuvant to standard diabetic foot ulcer (DFU) treatment.

Identification of a candidate sex determination region and sex-specific molecular markers based on whole-genome re‑sequencing in the sea star Asterias amurensis.

Sex determination systems are diverse in echinoderms, however, our understanding is still very limited in this research field, especially for Asteroidea species. The northern Pacific seastar, Asterias amurensis, has attracted widespread concern due to its population outbreaks and high-risk invasions. Using whole-genome re-sequencing data from 40 females and 40 males, we identified a candidate sex determination region in A.

Tailed molecular beacon probes: an approach for the detection of structured DNA and RNA analytes.

Molecular beacon (MB) probes have been extensively used for nucleic acid analysis. However, MB probes fail to hybridize with folded DNA or RNA. Here, we demonstrate that MB probes equipped with extra sequences complementary to the analyte, named 'tail', can increase the signal-to-background ratio by ∼40-fold and hybridization rates by ∼800-fold compared to conventional MB probes.

Sacubitril/valsartan versus valsartan initiation in patients naïve to renin-angiotensin system inhibitors: Insights from PARAGLIDE-HF.

Aims: Whether prior treatment with angiotensin-converting enzyme inhibitors (ACEi) or angiotensin receptor blockers (ARBs) modifies efficacy and safety of sacubitril/valsartan (Sac/Val) in patients with heart failure (HF) and ejection fraction (EF) >40% is unclear, thus Sac/Val according to ACEi/ARB status at baseline was assessed.

Methods And Results: This was a pre-specified analysis of Prospective comparison of ARNI with ARB Given following stabiLization In DEcompensated HFpEF (PARAGLIDE-HF), a double-blind, randomized controlled trial of Sac/Val versus valsartan, categorizing patients according to baseline ACEi/ARB status. The primary endpoint was time-averaged proportional change in N-terminal pro-B-type natriuretic peptide (NT-proBNP) from baseline through weeks 4 and 8.

Exploring the Potential of Nanocarriers for Cancer Immunotherapy: Insights into Mechanism, Nanocarriers, and Regulatory Perspectives.

Immunotherapy is a cutting-edge approach that leverages sophisticated technology to target tumor-specific antibodies and modulate the immune system to eradicate cancer and enhance patients' quality of life. Bioinformatics and genetic science advancements have made it possible to diagnose and treat cancer patients using immunotherapy technology. However, current immunotherapies against cancer have limited clinical benefits due to cancer-associated antigens, which often fail to interact with immune cells and exhibit insufficient therapeutic targeting with unintended side effects.

Medicaid Policy and Hepatitis C Treatment Among Rural People Who Use Drugs.

Background: Restrictive Medicaid policies regarding hepatitis C virus (HCV) treatment may exacerbate rural health care disparities for people who use drugs (PWUD). We assessed associations between Medicaid restrictions and HCV treatment among rural PWUD.

Methods: We compiled state-specific Medicaid treatment policies across 8 US rural sites in 10 states and merged these with participant survey data.

Recent Advances in Ruddlesden-Popper Phase-Layered Perovskite SrTiO Photocatalysts.

SrTiO, a prominent member of the Ruddlesden-Popper (RP) perovskite family, has garnered significant interest in photocatalysis, primarily owing to its distinctive two-dimensional (2D) layered structure. In this review, we provide an insightful and concise summary of the intrinsic properties of SrTiO, focusing on the electronic, optical, and structural characteristics that render it a promising candidate for photocatalytic applications. Moreover, we delve into the innovative strategies that have been developed to optimize the structural attributes of SrTiO.

Ovarian squamous cell carcinoma: clinicopathological features, prognosis and immunotherapy outcomes.

Objective: To explore the characteristics and survival outcomes of ovarian squamous cell carcinoma (SCC) and the treatment effectiveness of immune checkpoint inhibitors (ICIs).

Methods: Patients diagnosed with ovarian SCC at Peking Union Medical College Hospital between January 2000 and September 2023 were included. Overall survival (OS) and progression-free survival (PFS) were analyzed using the Kaplan-Meier method.

Genome wide landscaping of copy number variations for horse inter-breed variability.

Copy number variations (CNVs) have become widely acknowledged as a significant source of genomic variability and phenotypic variance. To understand the genetic variants in horses, CNVs from six Indian horse breeds, Manipuri, Zanskari, Bhutia, Spiti, Kathiawari and Marwari were discovered using Axiom Equine Genotyping Array. These breeds differed in agro-climatic adaptation with distinct phenotypic characters.

Scaling of quantitative cardiomyocyte properties in the left ventricle of different mammalian species.

Small mammals have a higher heart rate and, relative to body mass (Mb), a higher metabolic rate than large mammals. In contrast, heart weight and stroke volume scale linearly with Mb. With mitochondria filling approximately 50% of a shrew cardiomyocyte - space unavailable for myofibrils - it is unclear how small mammals generate enough contractile force to pump blood into circulation.

The genome of the sapphire damselfish : a new resource to support further investigation of the evolution of Pomacentrids.

The number of high-quality genomes is rapidly increasing across taxa. However, it remains limited for coral reef fish of the Pomacentrid family, with most research focused on anemonefish. Here, we present the first assembly for a Pomacentrid of the genus .

Non-canonical Function of Prolyl Hydroxylase Domain 2 in Breast Cancer Cell Growth and Progression: Role of Peptidyl-prolyl Cis-trans Isomerase NIMA-interacting 1.

Prolyl hydroxylase domain 2 (PHD2) is the primary oxygen sensing enzyme involved in hydroxylation of hypoxia-inducible factor (HIF). Under normoxic conditions, PHD2 hydroxylates specific proline residues in HIF-1α and HIF-2α, promoting their ubiquitination and subsequent proteasomal degradation. Although PHD2 activity decreases in hypoxia, notable residual activity persists, but its function in these conditions remains unclear Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 (Pin1) targets proteins with phosphorylated serine/threonine-proline (pSer/Thr-Pro) motifs.

Exploration of the cytotoxic and microtubule disruption potential of novel imidazo[1,5-]pyridine-based chalcones.

In continuation of our efforts to develop new anticancer compounds, a new series of imidazo[1,5-]pyridine-chalcone derivatives was designed, synthesized, characterized, and evaluated for its cytotoxicity against five human cancer cell lines, , breast (MDA-MB-231), colon (RKO), bone (Mg-63), prostate (PC-3), and liver (HepG2) cell lines, as well as a normal cell line (HEK). Among the synthesized compounds, two exhibited promising cytotoxicity against the MDA-MB-231 cell line with IC values of 4.23 ± 0.

Visual Location of Oxygen Vacancies on Bismuth Titanate Nanosheets with Periodic Quantum Well and Promoting HO Photosynthesis.

Oxygen vacancy (OV) defect engineering plays a crucial role in enhancing photocatalytic efficiency. However, the direct visual characterization of oxygen vacancies still remains technically limited. Herein, a bismuth titanate (BiTiO, BTO-OV) model photocatalyst containing oxygen vacancies is constructed through density functional theory (DFT) calculations to reveal the influence mechanism of distinctive periodic quantum well and oxygen vacancies on the charge transfer behavior in BTO.

Spiro-Ometad As A Promising Substrate In Biomedical Devices.

Bioactive films composed of Spiro-OMeTAD, a conductive molecular material (CMM), in combination with collagen have been manufactured and characterised for the first time. In-vitro cellular testing demonstrated the non-cytotoxicity of the doped Spiro-OMeTAD /Collagen films, opening the way for implantable or wearable medical devices and biosensors based on molecular materials.

Design, Synthesis, and Pharmacodynamic Evaluation of Highly Selective PARP1 Inhibitors with Brain Penetrance.

Selective poly(ADP-ribose) polymerase 1 (PARP1) inhibitors not only exhibit antitumor efficacy but also offer the potential to mitigate the toxicities typically associated with broader PARP inhibition. In this study, we designed and synthesized a series of small molecules targeting highly selective PARP1 inhibitors. Among these, demonstrated excellent selectivity to PARP1 along with the capability to effectively cross the blood-brain barrier (BBB).