Haploidentical bone marrow transplantation in a pediatric patient with Wiskott-Aldrich syndrome. A case report.

Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASp). Here, we report the clinical case of an 18-month-old boy diagnosed with Wiskott-Aldrich syndrome, who did not have an HLA-matched related or unrelated donor and was treated successfully with a hematopoietic stem cell transplant (HSCT) from a haploidentical family donor. Graft-versus-host disease (GvHD) prophylaxis included post-transplant cyclophosphamide (PT-Cy).

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Introducción: Actualmente se encuentra reportado que la infección por Mycoplasma pneumoniae (MP) puede darse en edades tempranas de la vida. Objetivo: Describir los hallazgos de la detección molecular de MP en secreciones respiratorias de pacientes que requirieron internación por infección respiratoria aguda, en un hospital pediátrico. Población y métodos: La recolección de datos se realizó mediante revisión de historias clínicas y la correlación estadística mediante test de chi-cuadrado.

The SARS-CoV-2 mutation landscape is shaped before replication starts.

Mutation landscapes and signatures have been thoroughly studied in SARS-CoV-2. Here, we analyse those patterns and link their changes to the viral replication tissue in the respiratory tract. Surprisingly, a substantial difference in those patterns is observed in samples from vaccinated patients.

A lung-specific mutational signature enables inference of viral and bacterial respiratory niche.

Exposure to different mutagens leaves distinct mutational patterns that can allow inference of pathogen replication niches. We therefore investigated whether SARS-CoV-2 mutational spectra might show lineage-specific differences, dependent on the dominant site(s) of replication and onwards transmission, and could therefore rapidly infer virulence of emergent variants of concern (VOCs). Through mutational spectrum analysis, we found a significant reduction in G>T mutations in the Omicron variant, which replicates in the upper respiratory tract (URT), compared to other lineages, which replicate in both the URT and lower respiratory tract (LRT).

[Molecular detection of Mycoplasma pneumoniae in respiratory samples from hospitalized children].

Introduction: It is currently reported that Mycoplasma pneumoniae (MP) infection can occur at a young age. Objective: Describe the findings of the molecular detection of MP in respiratory secretions of patients who required hospitalization due to acute respiratory infection, in a pediatric hospital.

Population And Methods: Data collection was performed by reviewing medical records and statistical correlation using the chi-square test.

Disseminated histoplasmosis in an immunocompetent pediatric patient.

Histoplasmosis is an endemic fungal infection caused by the fungus Histoplasma capsulatum. The disseminated form is associated with a high morbidity and mortality in pediatrics. Here we report the case of an immunocompetent female patient diagnosed with disseminated histoplasmosis.

Quantitative Proteomics Analysis Reveals That Cyclooxygenase-2 Modulates Mitochondrial Respiratory Chain Complex IV in Cardiomyocytes.

The biochemical mechanisms of cell injury and myocardial cell death after myocardial infarction remain unresolved. Cyclooxygenase 2 (COX-2), a key enzyme in prostanoid synthesis, is expressed in human ischemic myocardium and dilated cardiomyopathy, but it is absent in healthy hearts. To assess the role of COX-2 in cardiovascular physiopathology, we developed transgenic mice that constitutively express functional human COX-2 in cardiomyocytes under the control of the α-myosin heavy chain promoter.

Does COVID-19 psychological fatigue exist? Results of three online cross-sectional studies conducted in Spain from April 2020 to March 2021.

Background: A previously published meta-analysis found that about one-third of the general population experienced some mental health problem during the early phase of the COVID-19 pandemic, potentially leading to a late mental health crisis. We aimed to describe the acute, short-term, and long-term effects of the COVID-19 pandemic on mental health.

Methods: A one-year online survey (S) was conducted in Spain (April 2020 - March 2021).

Effect of process parameters and surfactant additives on the obtained activity of recombinant tryptophan hydroxylase (TPH1) for enzymatic synthesis of 5-hydroxytryptophan (5-HTP).

5-hydroxytryptophan (5-HTP) is an intermediate molecule in the biosynthesis of serotonin, an important neurotransmitter, regulating a series of metabolic and psychological functions in humans. In this work, we studied the heterologous production of Human tryptophan hydroxylase (TPH1) in Escherichia coli, for the synthesis of 5-hydroxytryptophan (5-HTP) from Tryptophan (Trp). To quantify TPH1 activity, a simple fluorescence-based microtiter plate assay was established, based on the changes in fluorescence emission at 340 nm between substrate and product when excited at 310 nm, allowing quick and reliable quantification of released 5-HTP.

Antioxidant and Anti-atherogenic Properties of and Aqueous Extracts: Modulation of NADPH Oxidase-Derived Reactive Oxygen Species.

Despite popular usage of medicinal plants, their effects as cardiovascular protective agents have not been totally elucidated. We hypothesized that treatment with aqueous extract from (AEPs) and (AETa), Argentinian native plants, produces antioxidant effects on vascular smooth muscle cells (VSMCs) and attenuates atherogenesis on apolipoprotein E-knockout (ApoE-KO) mice. In VSMCs, both extracts (5-40 μg/ml) inhibited 10% fetal calf serum-induced cell proliferation, arrested cell in G2/M phase, reduced angiotensin II-induced reactive oxygen species (ROS) generation, and decreased NADPH oxidase subunit expression.

Mitochondria form contact sites with the nucleus to couple prosurvival retrograde response.

Mitochondria drive cellular adaptation to stress by retro-communicating with the nucleus. This process is known as mitochondrial retrograde response (MRR) and is induced by mitochondrial dysfunction. MRR results in the nuclear stabilization of prosurvival transcription factors such as the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB).

Early psychological impact of the 2019 coronavirus disease (COVID-19) pandemic and lockdown in a large Spanish sample.

Background: Epidemic outbreaks have significant impact on psychological well-being, increasing psychiatric morbidity among the population. We aimed to describe the early psychological impact of COVID-19 and its contributing factors in a large Spanish sample, globally and according to mental status (never mental disorder NMD, past mental disorder PMD, current mental disorder CMD).

Methods: An online questionnaire was conducted between 19 and 26 March, five days after the official declaration of alarm and the lockdown order.

Sketching neoteric solvents for boosting drugs bioavailability.

Emerging neoteric solvents are being the subject of growing attention due to their lower cost and environmental impact, so they are being applied in a broad spectrum of industries. Among them, the pharmaceutical sector is demanding new environmentally friendly and non-toxic solvents able to enhance drugs solubility and stability. The introduction of ionic liquids turned out to be a breakthrough in the field of Green Chemistry opening up new separation and catalysis opportunities.

Genomic regions and pathways associated with gastrointestinal parasites resistance in Santa Inês breed adapted to tropical climate.

Background: The aim of this study was to estimate variance components and to identify genomic regions and pathways associated with resistance to gastrointestinal parasites, particularly in a breed of sheep adapted to tropical climate. Phenotypes evaluations were performed to verify resistance to gastrointestinal parasites, and were divided into two categories: i) farm phenotypes, assessing body condition score (BCS), degree of anemia assessed by the famacha chart (FAM), fur score (FS) and feces consistency (FC); and ii) lab phenotypes, comprising blood analyses for hematocrit (HCT), white blood cell count (WBC), red blood cell count (RBC), hemoglobin (HGB), platelets (PLT) and transformed (log) egg per gram of feces (EPG). A total of 576 animals were genotyped with the Ovine SNP12k BeadChip (Illumina, Inc.

Reversible Keap1 inhibitors are preferential pharmacological tools to modulate cellular mitophagy.

Mitophagy orchestrates the autophagic degradation of dysfunctional mitochondria preventing their pathological accumulation and contributing to cellular homeostasis. We previously identified a novel chemical tool (hereafter referred to as PMI), which drives mitochondria into autophagy without collapsing their membrane potential (ΔΨ). PMI is an inhibitor of the protein-protein interaction (PPI) between the transcription factor Nrf2 and its negative regulator, Keap1 and is able to up-regulate the expression of autophagy-associated proteins, including p62/SQSTM1.

A role for TSPO in mitochondrial Ca homeostasis and redox stress signaling.

The 18 kDa translocator protein TSPO localizes on the outer mitochondrial membrane (OMM). Systematically overexpressed at sites of neuroinflammation it is adopted as a biomarker of brain conditions. TSPO inhibits the autophagic removal of mitochondria by limiting PARK2-mediated mitochondrial ubiquitination via a peri-organelle accumulation of reactive oxygen species (ROS).

Scaling-up and ionic liquid-based extraction of pectinases from Aspergillus flavipes cultures.

The viability of the scaling-up of pectinases production by Aspergillus flavipes at 5L-bioreactor scale has been demonstrated by keeping constant the power input, and a drastic increase in the endo- and exopectinolytic enzyme production was recorded (7- and 40-fold, respectively). The main process variables were modelled by means of logistic and Gompertz equations. In order to overcome the limitations of the conventional downstream strategies, a novel extraction strategy was proposed on the basis of the adequate salting-out potential of two biocompatible cholinium-based ionic liquids (NCl and NHPO) in aqueous solutions of Tergitol, reaching more than 90% of extraction.

Juvenile Diabetes Mellitus and Concurrent Exocrine Pancreatic Insufficiency in a Labrador Retriever: Long-Term Management.

A 3 mo old, female, entire Labrador retriever presented with vomiting, diarrhea, polyuria, polydipsia, polyphagia, and stunted growth. Diagnostics revealed the presence of juvenile diabetes mellitus and concurrent exocrine pancreatic insufficiency. Pancreatic histopathology showed severe pancreatic atrophy.

Simultaneous biotreatment of Polycyclic Aromatic Hydrocarbons and dyes in a one-step bioreaction by an acclimated Pseudomonas strain.

A Pseudomonas stutzeri strain acclimated to the presence of neoteric contaminants has been proposed for simultaneously remediating an effluent polluted with Polycyclic Aromatic Hydrocarbons and a diazo dye. The pollutants chemical nature imposed a strict control of both the medium composition and the operating conditions. pH, temperature and agitation rates of 7.

Stable SREBP-1a knockdown decreases the cell proliferation rate in human preadipocyte cells without inducing senescence.

Sterol regulatory element binding proteins (SREBP), encoded by the Srebf1 and Srebf2 genes, are important regulators of genes involved in cholesterol and fatty acid metabolism. Whereas SREBP-2 controls the cholesterol synthesis, SREBP-1 proteins (-1a and -1c) function as the central hubs in lipid metabolism. Despite the key function of these transcription factors to promote adipocyte differentiation, the roles of SREBP-1 proteins during the preadipocyte state remain unknown.

[Heart failure and depression. A psychosocial perspective].

Heart failure is the final stage of many heart diseases and the main cause of mortality. It affects the patient, the family and the health system. Depression affects between the 13.

Progression of liver oncogenesis in the double transgenic mice c-myc/TGF α is not enhanced by cyclooxygenase-2 expression.

Cyclooxygenase-2 (COX-2) has been associated with cell growth regulation, tissue remodeling and carcinogenesis. Overexpression of COX-2 in hepatocytes constitutes an ideal condition to evaluate the role of prostaglandins (PGs) in liver pathogenesis. The effect of COX-2-dependent PGs in genetic hepatocarcinogenesis has been investigated in triple c-myc/transforming growth factor α (TGF-α) transgenic mice that express human COX-2 in hepatocytes on a B6CBAxCD1xB6DBA2 background.

Identification of a novel Pfkfb1 mRNA variant in rat fetal liver.

The bifunctional enzyme 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFK-2/FBPase-2) catalyzes the synthesis and degradation of fructose-2,6-bisphosphate, a key metabolite in the glucose homeostasis. Four genes, Pfkfb1-4, have been characterized in mammals that code for several isoforms generated by alternative splicing through the control of several promoters and 5' non-coding exons. Here, we characterize in fetal rat liver new mRNA variants which are transcribed from a new Pfkfb1 gene promoter.

North Western Spain hot springs are a source of lipolytic enzyme-producing thermophilic microorganisms.

Several hot springs in Galicia (North Western Spain) have been investigated as potential sources of lipolytic enzyme-producing thermophilic microorganisms. After isolating 12 esterase producing strains, 9 of them were assured to be true lipase producers, and consequently grown in submerged cultures, obtaining high extracellular activities by two of them. Furthermore, a preliminary partial characterization of the crude lipase, obtained by ultrafiltration of the cell-free culture supernatant, was carried out at several pH and temperature values.

A process for extracellular thermostable lipase production by a novel Bacillus thermoamylovorans strain.

A lipolytic enzyme-producing thermophilic microorganism, recently isolated from a hot spring in Galicia (North Western Spain), has been investigated. First, the strain was genetically identified and tentatively named Bacillus thermoamylovorans CH6B. It produced significant levels (around 450 U/L) of extracellular lipolytic activity in shake flask cultures, and the most suitable conditions for this biological process were found at temperatures between 50 and 55 °C, and an initial pH value around 7.