Publications by authors named "Diego R"

Distinguishing between primary (PID) and secondary (SID) immunodeficiencies, particularly in relation to hematological B-cell lymphoproliferative disorders (B-CLPD), poses a major clinical challenge. We aimed to analyze and define the clinical and laboratory variables in SID patients associated with B-CLPD, identifying overlaps with late-onset PIDs, which could potentially improve diagnostic precision and prognostic assessment. We studied 37 clinical/laboratory variables in 151 SID patients with B-CLPD.

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: Male stress urinary incontinence (SUI) after surgical treatment of benign prostatic enlargement (BPE) is an infrequent but dreadful complication and constitutes a therapeutic challenge. The efficacy and safety of the adjustable trans-obturator male system (ATOMS) in these patients is rather unknown, mainly due to the rarity of this condition. We aimed to assess the results of ATOMS to treat SUI after transurethral resection (TURP) or holmium laser enucleation (HoLEP) of the prostate.

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The attractive electronic properties of metal-pyrazine materials─electrical conductivity, magnetic order, and strong magnetic coupling─can be tuned in a wide range depending on the metal employed, as well as its ligand-imposed redox environment. Using solvent-directed synthesis to control the dimensionality of such systems, a discrete tetranuclear chromium(III) complex, exhibiting a rare example of bridging radical pyrazine, has been prepared from chromium(II) triflate and neutral pyrazine. The strong antiferromagnetic interaction between Cr ( = 3/2) and radical pyrazine ( = 1/2) spins, theoretically estimated at about -932 K, leads to a thermally isolated = 4 ground state, which remains the only populated state observable even at room temperature.

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Ditopic bis-pyrazolylpyridine ligands usually react with divalent metal ions (M) to produce dinuclear triple-stranded helicates [ML] or, π⋯π interactions, dimers of monoatomic complexes ([ML]). The introduction of an additional benzene ring at each end of ligand L increases the number of aromatic contacts within the supramolecular aggregate by 40%, driving the self-recognition process in an irreversible manner. Consequently, the mixing of new bis-pyrazolylquinoline L2 with FeX salts leads to crystallization of the tripartite high-spin assemblies (X@[Fe(L2)]) (X = Cl, Br or I).

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Despite advancements in genetic and functional studies, the timely diagnosis of common variable immunodeficiency (CVID) remains a significant challenge. This exploratory study was designed to assess the diagnostic performance of a novel panel of biomarkers for CVID, incorporating the sum of κ+λ light chains, soluble B-cell maturation antigen (sBCMA) levels, switched memory B cells (smB) and the VISUAL score. Comparative analyses utilizing logistic regression were performed against established gold-standard tests, specifically antibody responses.

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Objective: To develop a model for the prediction of adverse perinatal outcome in growth-restricted fetuses requiring delivery before 28 weeks in order to provide individualized patient counseling.

Methods: This was a retrospective multicenter cohort study of singleton pregnancies with antenatal suspicion of fetal growth restriction requiring delivery before 28 weeks' gestation between January 2010 and January 2020 in six tertiary public hospitals in the Barcelona area, Spain. Separate predictive models for mortality only and mortality or severe neurological morbidity were created using logistic regression from variables available antenatally.

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Background: We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants of life-threatening COVID-19 remain to be identified in ~ 80% of cases.

Methods: We report here a genome-wide rare variant burden association analysis in 3269 unvaccinated patients with life-threatening COVID-19, and 1373 unvaccinated SARS-CoV-2-infected individuals without pneumonia.

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Introduction: Reported cases after the post-commercialization phase of mRNA vaccines against COVID-19 have revealed that myocarditis and pericarditis may occur predominantly in male adolescents after the second dose of the vaccine.

Case Presentation: We report two cases of cardiac disorders associated with mRNA COVID-19 vaccination, both of them in 15 year-old males. One of the patients presented acute pericarditis and the second one presented acute myocarditis with left ventricular dysfunction at hospital discharge.

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The aim of this study was to analyze the evolution of germ aversion, to perceived infectability and to the fear of COVID-19 from the beginning of the pandemic until the arrival of the vaccines. A repeated measures design was used with three time points during the pandemic. The survey consisted of: Scale of perceived vulnerability to disease; Scale of fear of COVID-19; They were asked if they were vaccinated and if that vaccination is complete.

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Background: The impact of immunosuppression in solid organ transplant recipients with SARS-CoV-2 infection is unknown. The knowledge about the behavior of different immunosuppression schemes in clinical outcomes is scarce. This study aimed to determine the risk of death in kidney transplant recipients with COVID-19 under two different schemes of immunosuppression.

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A designed dimetallic Fe(II) helicate made with biphenylene-bridged bispyrazolylpyridine ligands and exhibiting a process of spin crossover at temperatures above ambient is shown to encapsulate an = 5/2 tris-oxalato Fe(III) ion. The spin relaxation dynamics of this guest are strongly reduced upon encapsulation.

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Background: This work aims to present a nuclear medicine imaging service's data regarding applying positron emission-computing tomography (PET/CT) scans with the radiopharmaceutical Ga-PSMA-HBED-CC (Ga-PSMA-11) to diagnose prostate cancer clinical relapse.

Methods: Eighty patients with a mean age of 68.26 years and an average prostatic-specific antigen blood level of 7.

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Spin-crossover between high-spin (HS) and low-spin (LS) states of selected transition metal ions in polynuclear and polymeric compounds is behind their use as multistep switchable materials in breakthrough electronic and spintronic devices. We report the first successful attempt to observe the dynamics of a rarely found broken-symmetry spin state in binuclear complexes, which mixes the states [HS-LS] and [LS-HS] on a millisecond timescale. The slow exchange between these two states, which was identified by paramagnetic NMR spectroscopy in solutions of two spin-crossover iron(II) binuclear helicates that are amenable to molecular design, opens a path to double quantum dot cellular automata for information storage and processing.

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Article Synopsis
  • At least 10% of critical COVID-19 pneumonia cases are linked to genetic defects in type I interferon immunity and autoantibodies against these cytokines, with rare X-linked variants found in 16 male individuals aged 7 to 71 years.
  • In a study involving 1,202 males with unexplained critical COVID-19, none of the asymptomatically infected participants had these deleterious variants, indicating a significant genetic component to severe illness.
  • The research highlights that X-linked recessive TLR7 deficiency plays a crucial role in about 1.8% of critical COVID-19 cases in males under 60, as effective TLR7 and plasmacytoid dendritic cells are vital for
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Background: Preeclampsia (PE) and intrauterine growth restriction (IUGR) are major causes of maternal and perinatal morbidity and mortality. Previous studies have shown that intervention with low-dose aspirin resulted in a reduction in the occurrence of preterm PE. However, no data are currently available on the effect of low-molecular-weight heparin (LMWH) for the prevention of pregnancy complications in women enrolled at first trimester screening.

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Article Synopsis
  • The study investigates the genetic, immunological, and clinical characteristics of patients with GATA2 mutations who have mycobacterial diseases, with a focus on familial contexts.
  • Researchers examined 15 patients and their relatives, identifying 12 mutations, some of which were newly discovered, revealing a pattern of incomplete clinical penetrance among family members.
  • The findings suggest that GATA2 deficiency can lead to mycobacterial infections and other health issues, indicating the need for genetic testing of relatives and consideration of GATA2 deficiency in patients with related symptoms at any age.
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Background: Phosphoglucomutase-3 (PGM3) deficiency is a congenital disorder of glycosylation (CDG) with hyperimmunoglobulin IgE, atopy, and a variable immunological phenotype; most reported patients display dysmorphic features. The aim of the study was to characterize the genotype and phenotype of individuals with newly identified compound heterozygous variants in the phosphate-binding domain of PGM3 in order to better understand phenotypic differences between these patients and published cases.

Methods: We analyzed PGM3 protein expression, PGM3 enzymatic activity, the presence of other gene variants within the N-glycosylation pathway, and the clinical and immunological manifestations of two affected siblings.

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Introduction: Surgical repair of pelvic organ prolapse is one of the most frequent gynecological procedures, and its frequency is expected to increase as the population is gradually aging. Mesh use in urogynecological surgery should be limited because of important and life-treating complications. Sacral mesh-less and lateral procedures have been described as safe and effective to treat apical compartment prolapse.

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A new bis-(β-diketone) ligand featuring built-up structural asymmetry yields non-symmetric Fe(iii) and Ga(iii) dinuclear, triple-stranded helicates by design. Their structural properties have been studied, both in solid state and in solution, and compared with their corresponding symmetric analogues. The robustness observed shows the potential of this synthetic strategy to develop non-symmetric helicoidal motifs with specific functional groups.

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In recent decades, the role played by the immune response to bacteria in the pathogenesis of chronic periodontal disease (PD) has long been studied. Although from the clinical point of view, adequate oral hygiene is essential to ensure a satisfactory response of the host to infections, modulation of the reaction of immune system could be influenced by genetic factors. The aim of the present study was to investigate the distribution of alleles of polymorphisms relevant for chronic periodontitis in a sample of adult subjects affected by chronic PD.

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The slow magnetic relaxation of Co ions in the elusive intermediate geometry between the trigonal prism and antiprism has been studied on the new [CoL] and [CoZnL] coordination helicates [L is a bis(pyrazolylpyridine) ligand]. Solution paramagnetic H NMR and solid-state magnetization measurements unveil single-molecule-magnet behavior with small axial anisotropy, as predicted previously.

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Spin-crossover (SCO) molecular solids are valued switchable materials for their common abrupt and reversible thermal transitions, large thermal hysteresis, or guest-dependent effects. These properties usually involve crystallographic transitions coupled to the SCO events. These phenomena are of great value for the understanding of solid-state transformations and also for exploiting them.

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