Publications by authors named "Santiago D"

Timothy syndrome type 1 (TS1), a malignant variant of Long QT Syndrome, is caused by L-type Ca2+ Channel (LTCC) inactivation defects secondary to the p.Gly406Arg mutation in the CACNA1C gene. Leveraging on the experimental in vitro data from our TS1 knock-in swine model and their wild-type (WT) littermates, we first developed a mathematical model of WT large white swine ventricular cardiomyocyte electrophysiology that reproduces a wide range of experimental data, including ionic current properties, action potential (AP) dynamics, and handling.

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Sodium fluoride (NaF) has been found to be an activation agent in exfoliating a hexagonal boron nitride (hBN) platelet, using a solvent free method. The procedure was carried out by enhancing the intercalation of ferric chloride (FeCl) in an intermediate step, up to 330 °C, followed by removal of the by-product at room temperature. In this research, five additional common salts, including lithium fluoride, potassium fluoride, lithium chloride, sodium chloride, and potassium chloride, were examined and compared to NaF for their effectiveness in achieving maximum exfoliation of commercially available sub-micron-sized hBN.

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Aims: The Global South has some of the world's largest cities, where rapid, ad hoc development of urban centres and 'megacities' has fuelled major socio-economic, environmental, and public health concerns. These urban environments can generate feelings of loneliness, with multiple barriers for access and participation in socio-cultural infrastructures. An inclusive future agenda for global creative health must, therefore, consider how urbanisation impacts social public health, what creative health approaches can do to alleviate this, and what the barriers are to access.

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High-dimensional quantum information processing has emerged as a promising avenue to transcend hardware limitations and advance the frontiers of quantum technologies. Harnessing the untapped potential of the so-called qudits necessitates the development of quantum protocols beyond the established qubit methodologies. Here, we present a robust, hardware-efficient, and scalable approach for operating multidimensional solid-state systems using Raman-assisted two-photon interactions.

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RNA thermometers are temperature-sensing non-coding RNAs that regulate the expression of downstream genes. A well-characterized RNA thermometer motif discovered in bacteria is the ROSE-like element (repression of heat shock gene expression). ATP-binding cassette (ABC) transporters are a superfamily of transmembrane proteins that harness ATP hydrolysis to facilitate the export and import of substrates across cellular membranes.

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This study presents the synthesis of a novel biobased epoxy monomer derived from vanillin and cystamine, incorporating imine and disulfide exchangeable groups within its structure. A series of epoxy-based vitrimers with two simultaneous exchange relaxation processes have been produced using this monomer. These exchange mechanisms operate without the need for any catalyst.

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  • Neonatal abstinence syndrome (NAS) is a condition affecting newborns who experience drug withdrawal symptoms after being exposed to drugs in the womb, with this study focusing on its incidence in Puerto Rico.
  • From 2018 to 2020, a review of medical records revealed 12 cases of NAS, equating to an incidence of 2 cases per 1000 admitted newborns, with most having polydrug exposure.
  • The study found variations in the timing of NAS symptom onset and treatment dosing practices, highlighting the need for more comprehensive research to improve NAS treatment protocols in Puerto Rico.
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Calsequestrin (CASQ) is a key intra-sarcoplasmic reticulum Ca-handling protein that plays a pivotal role in the contraction of cardiac and skeletal muscles. Its Ca-dependent polymerization dynamics shape the translation of electric excitation signals to the Ca-induced contraction of the actin-myosin architecture. Mutations in CASQ are linked to life-threatening pathological conditions, including tubular aggregate myopathy, malignant hyperthermia, and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).

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The environmental and health-related impacts of synthetic dyes have led to growing interest in natural dyes as sustainable and eco-friendly alternatives. However, natural dyes have been used to dye textiles with limited color shade and poor fastness properties, and little research has been conducted in this field. Additionally, natural dyes also have the potential to provide added functionalities to textiles, such as antibacterial and anti-UV properties.

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We describe the case of a mother in the second trimester of pregnancy with severe paraquat poisoning who ended her pregnancy at term and a healthy newborn. Management was initiated after 34 h of paraquat administration with the HA-230 hemoadsorption cartridge, followed by continuous venovenous hemodiafiltration for 120 h, in addition to cyclophosphamide and methylprednisolone. There was no evidence of adverse effects associated with treatment or extracorporeal therapy, and maternal and fetal well-being was maintained during the 26 days of hospitalization and at the end of pregnancy.

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Mutant , generated via EMS mutagenesis in , was studied by undergraduate students participating in the Fly-CURE. After inducing genetically mosaic tissue in the adult eye, mutant tissue displays a robust increase in cell division and a rough appearance. Complementation mapping and sequence analysis identified a nonsense mutation in the gene , which we named ( ) due to observed increases in red-pigmented mutant tissue compared to controls.

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Introduction: Cultural competency has been identified as a barrier to lesbian, gay, bisexual and transgender (LGBT) populations seeking care. Mystery shopping has been widely employed in the formal health care sector as a quality improvement (QI) tool to address specific client needs. The approach has had limited use in community-based organizations due in part to lack of knowledge and resource requirement concerns.

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Inositol 1,4,5-trisphosphate receptor (IPR) and ryanodine receptor (RyR) are homologous cation channels that mediate release of Ca from the endoplasmic/sarcoplasmic reticulum (ER/SR) and thereby are involved in many physiological processes. In previous studies, we determined that when the D2594 residue, located at or near the gate of the IPR type 1, was replaced by lysine (D2594K), a gain of function was obtained. This mutant phenotype was characterized by increased IP sensitivity.

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Abscisic acid (ABA) is a classical hormone involved in the plant defense against abiotic stresses, especially drought. However, its role in the defense response against biotic stresses is controversial: it can induce resistance to some pathogens but can also increase the susceptibility to other pathogens. Information regarding the effect of ABA on the relationship between plants and sedentary phytonematodes, such as , is scarce.

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  • Timothy syndrome 1 (TS1) is a serious condition that causes dangerous heart rhythm problems and is linked to genetic mutations affecting calcium channel function.* -
  • Researchers created a pig model of TS1 that mimics human disease, showing extended QT intervals and higher mortality rates due to arrhythmias, along with distinct changes in how the heart activates.* -
  • The study identified a vulnerability to reentry arrhythmias in TS1 and demonstrated that certain drugs could effectively treat this condition, highlighting the role of calcium overload in heart cell function issues.*
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Ternary quantum information processing in superconducting devices poses a promising alternative to its more popular binary counterpart through larger, more connected computational spaces and proposed advantages in quantum simulation and error correction. Although generally operated as qubits, transmons have readily addressable higher levels, making them natural candidates for operation as quantum three-level systems (qutrits). Recent works in transmon devices have realized high fidelity single qutrit operation.

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The growing trend towards high voltage electrical assets and propulsion in the aeronautics and space industry pose new challenges in electrical insulation materials that cannot be overlooked. Transition to new high voltage electrified systems with unprecedented high levels of voltage, power, and efficiency must be safe and reliable. Improvements in both performance and safety of megawatt power systems is complicated because of the need for additional power transmission wiring and cabling and new safety requirements that have the potential of making the resulting systems heavier.

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  • Bile acid tauroursodeoxycholic (TUDCA) may enhance pancreatic β-cell function and insulin secretion in obesity by regulating mitochondrial metabolism.
  • TUDCA treatment normalized hyperinsulin secretion induced by fatty acids in insulin-producing cells and reduced markers associated with mitochondrial activity.
  • The study suggests that TUDCA could help restore glycemic balance in obesity by improving mitochondrial function and reducing oxidative stress.
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Hyperbranched polymers and multiarm star polymers are a type of dendritic polymers which have attracted substantial interest during the last 30 years because of their unique properties. They can be used to modify epoxy thermosets to increase their toughness and flexibility but without adversely affecting other properties such as reactivity or thermal properties. In addition, the final properties of materials can be tailored by modifying the structure, molecular weight, or type of functional end-groups of the hyperbranched and multiarm star polymers.

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Despite US federal legislation mandates institutions to provide meaningful access and participation to students and families in educational settings, culturally and linguistically diverse (CLD) families and caregivers of children in special education experience cultural and linguistic barriers. A Community Advisory Team (CAT) of parents, advocates, community interpreters and translators, researchers, and teachers explored CLD families' experiences and advocacy efforts. Critical bifocality and circuits of dispossession, privilege, and resistance informed the documentation of inequities and resistance to understand the linkages of structural arrangements of power.

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  • Patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) can still face life-threatening arrhythmic events (LTAEs) even when on β-blocker treatment, highlighting the need for careful management strategies.
  • The study investigated long-term outcomes of CPVT patients carrying RYR2 variants who were treated solely with β-blockers, focusing on the incidence of LTAEs and evaluating the cost-effectiveness of an implantable cardioverter defibrillator (ICD).
  • Out of 216 patients monitored for an average of 9.4 years, 13% experienced an LTAE, with certain risk factors identified, such as syncope and specific genetic variants, that increased the likelihood of these dangerous events
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A 56-year-old patient with a 1-year history of stable maintenance treatment with Suboxone for opioid use disorder (OUD) was switched to a generic formulation in May of 2019. The patient reported experiencing-over the course of the following 3 months-withdrawal symptoms when switched to the Alvogen-produced generic formulation in May of 2019 and then to the Sandoz-produced version in July of that same year, she also was positive for fentanyl during that time. As a result, the buprenorphine dose was increased, and the patient was stable at this new dose using the generic versions.

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Purpose: Differences in the suppression of withdrawal symptoms have been observed in opioid-use-disorder (OUD) patients who were switched from Suboxone (the brand name of buprenorphine/naloxone sublingual films) to either 1 of 2 generic versions. These descriptive observations evidence the need to further assess the use of these generics and its impact on the adherence to and outcomes of OUD treatments. The objective of this case series was to describe patient and provider experiences, perceptions, and preferences when said patients were abruptly switched from Suboxone to one of the generic versions manufactured by Sandoz or Alvogen.

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