Publications by authors named "Heredia M"

Unlabelled: The SPFH (stomatin, prohibitin, flotillin, and HflK/HflC) protein superfamily is conserved across all domains of life. Fungal SPFH proteins are required for respiration, stress adaptation, and membrane scaffolding. In the yeast , stomatin-like protein 3 (Slp3) forms punctate foci at the plasma membrane, and overexpression causes cell death following exposure to the surfactant, SDS, and the oxidative stressor, HO.

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Women physicians and nurses are health professionals with significant differences in their role, but they share common social and occupational stressors. This study compares the outcomes of female physicians and nurses in treatment in a highly specialized program for health professionals with substance use disorders. This was a 9-year, survival, observational, cohort study, conducted with data from medical e-records of female nurses (n = 58) and physicians (n = 50) in treatment for addictions.

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  • CD4 memory T cell reactivation is linked to chronic inflammatory bowel disease (IBD), affecting conditions like Crohn's disease (CD) and ulcerative colitis, with unclear differences in T cell regulation among patients.
  • In a study of pediatric IBD patients, a specific subgroup of therapy-naïve CD patients showed higher frequencies of a particular inflammatory T cell type (TIGITCD38T) associated with severe disease and elevated IFN-γ levels.
  • The research identified IL-12 as a key driver of this inflammatory response, with increased IL-12 signaling linked to the transformation of T cells into more pathogenic forms, correlating with worsened intestinal inflammation.
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  • Fanconi anemia (FA) is a rare genetic disorder marked by varying symptoms and significant chromosome fragility, leading to severe health issues like cancer and bone marrow failure.
  • The Spanish Registry of Patients with FA gathered data from 227 patients over 30 years, revealing an 86% cumulative cancer incidence by age 50, with outcomes differing based on chromosome fragility and specific gene mutations.
  • Findings suggest that patients with mutations allowing some protein function (genetic hypomorphism) tend to have better health outcomes, indicating potential for new therapies that could enhance mutant FA protein function to improve patient prognosis.
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  • The study investigates the genetic factors linked to severe COVID-19, specifically focusing on hospitalized cases in admixed Americans.
  • Researchers conducted the largest genome-wide association study (GWAS) for COVID-19 hospitalization in this population, identifying four significant genetic associations, including two novel loci found in Latin Americans.
  • The findings highlight the importance of including diverse populations in genomic research, aiming to improve understanding of genetic risks associated with COVID-19 across different ethnic groups.
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Inflammatory bowel disease (IBD) chronicity results from memory T helper cell (Tmem) reactivation. Identifying patient-specific immunotypes is crucial for tailored treatment. We conducted a comprehensive study integrating circulating immune proteins and circulating Tmem, with intestinal tissue histology and mRNA analysis, in therapy-naïve pediatric IBD (Crohn's disease, CD: n = 62; ulcerative colitis, UC: n = 20; age-matched controls n = 43), and after 10-12 weeks' induction therapy.

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  • ClC-K/barttin channels play a vital role in chloride transport in the kidneys and inner ear, and mutations in their genes can lead to Bartter's syndrome.
  • Research shows that a specific amino acid change in barttin enhances ClC-K currents, but the exact mechanism and significance in living organisms is still unclear.
  • Experiments using Xenopus oocytes and mice indicate that mutations in a particular YxxØ motif on barttin can increase its stability at the plasma membrane and improve function, although these mutations do not change overall protein expression levels under certain diet conditions.
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E-cigarettes (ECs) deliver chemicals, including nicotine. They can cause respiratory distress, addiction, cardiovascular effects, and death. More research is needed, especially regarding their impact on the cardiovascular system (CVS) and during pregnancy.

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Aims: Cytoplasmic dynein heavy chain (DYNC1H1) is a multi-subunit protein complex that provides motor force for movement of cargo on microtubules and traffics them back to the soma. In humans, mutations along the DYNC1H1 gene result in intellectual disabilities, cognitive delays, and neurologic and motor deficits. The aim of the study was to generate a mouse model to a newly identified de novo heterozygous DYNC1H1 mutation, within a functional ATPase domain (c9052C > T(P3018S)), identified in a child with motor deficits, and intellectual disabilities.

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In the present work, derivatives of phenanthridine-6(5)-ones and benzo[]chromenes were efficiently prepared through an intramolecular C-H bond functionalization reaction catalyzed by photochemically synthesized Pd-PVP nanoparticles. The heterocycles were obtained intramolecular arylation of the corresponding -methyl--aryl-2-halobenzamide or aryl-(2-halo)benzyl ethers using KCO as base in a mixture of HO : DMA as solvent without additives or ligands. High yields of the heterocyclic compounds were achieved (up to 95%) using a moderately low catalyst loading (1-5 mol%) under an air atmosphere at 100 °C.

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Objectives: We report on the therapeutic management of early-onset severe neurologic symptoms in cytotoxic T lymphocyte antigen-4 haploinsufficiency (CTLA-4h) and the presence of antibodies to the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) as an important finding.

Methods: This is a case report from a Dutch academic hospital. Repeated clinical examinations, repeated brain MRI and extended diagnostics on serum and CSF were performed.

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The strains Marseille-Q7072 (= CSUR Q7072 = CECT 30604) and Marseille-Q7826 (= CSUR Q7826 = CECT 30727) were isolated from vaginal samples. As MALDI-TOF mass spectrometry failed to identify them, their genomes were directly sequenced to determine their taxogenomic identities. Both strains are anaerobic without any oxidase and catalase activity.

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Background: Around 57,000 people in Spain and Portugal currently living with HIV or chronic hepatitis C are unaware of their infection. The COVID-19 pandemic severely disrupted screening efforts for these infections. We designed an intervention to increase and sustain opportunistic blood-borne virus (BBV) screening and linkage to care (SLTC) by implementing the TEST model.

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Objective: Frozen-section evaluation of the pancreatic margin is challenging. We aimed to determine interobserver variability among gastrointestinal pathologists for the assessment of frozen sections of pancreatic margins with marked chronic pancreatitis and to determine the challenging histological features in discrepant cases.

Methods: We identified 45 patients who underwent pancreas resection for pancreatic ductal adenocarcinoma and showed marked chronic pancreatitis at pancreatic margin.

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The rising cost of transplanting rice has made direct seeding an affordable alternative for rice establishment, particularly in Africa. However, direct seeding, while cost-effective, faces crop establishment challenges due to flooding. Uncontrolled water, driven by erratic rains in low-lying areas or uneven fields, limit germination.

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An isolate of a bacterium recovered from an endometrial biopsy failed to be identified by MALDI-TOF mass spectrometry and was subjected to 16S rRNA sequencing. The obtained sequence was compared by BLASTn against the NCBI database, which revealed that the most closely related species was Cellulomonas hominis and Cellulomonas pakistanensis, with 98.85% and 98.

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We report the findings observed in a young woman with ocular syphilis complicated with retinal and disc neovascularization successfully treated with intravitreal bevacizumab. Fluorescein angiography revealed in both eyes intense hyperfluorescence at the level of the disc, multifocal venous wall staining, multifocal paravenous leakage, multiple peripheral saccular venular dilations, diffuse retinal and macular edema, and retinal and disc neovascularization. There was no evidence of retinal ischemia in both eyes.

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Background: Ocular toxoplasmosis (OT) is caused by the parasite Toxoplasma gondii. OT is the leading cause of posterior uveitis globally; it is a recurrent disease that may result in visual impairment and blindness. This systematic review and meta-analysis aim to summarize and evaluate the risk factors for recurrences, visual impairment, and blindness described in the literature worldwide.

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Acute pelvic pain due to venous thrombosis can be encountered in the context of pelvic congestion syndrome. Some vascular anomalies such as nutcracker syndrome or May-Thurner syndrome may cause left ovarian vein or left iliofemoral vein thrombosis. Smaller parametrial or paravaginal vein thrombi have rarely been reported as aetiologies of acute pelvic pain.

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Objective: Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. We sought to elucidate the relationship between genotypic and phenotypic presentations of Wolfram syndrome which would assist clinicians in classifying the severity and prognosis of Wolfram syndrome more accurately.

Approach: Patient data from the Washington University International Registry and Clinical Study for Wolfram Syndrome and patient case reports were analyzed to select for patients with two recessive mutations in the WFS1 gene.

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Aim: The Diabeloop Generation 1 (DBLG1) system is an interoperable hybrid closed-loop solution that was commercialized in Germany in March 2021. We report the longitudinal glycaemic outcomes among the first 3706 users in a real-world setting.

Methods: We performed a retrospective data collection of all consenting adult patients with type 1 diabetes who were equipped in Germany with the DBLG1 system before 30 April 2022, and with a minimum 14 days of closed-loop usage.

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There are several species that colonize humans, but only Entamoeba histolytica causes severe disease. E. histolytica is transmitted through the fecal-oral route to colonize the intestinal tract of 50 million people worldwide.

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The extracellular matrix (ECM) is a dynamic structure comprising of all four classes of macromolecules. In the biofilm setting, this matrix is key to the survival of microbial communities by conferring to biofilms both structural integrity and protection against diverse environmental insults. In Candida spp.

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Lafora disease (LD) is a fatal rare neurodegenerative disorder that affects young adolescents and has no treatment yet. The hallmark of LD is the presence of polyglucosan inclusions (PGs), called Lafora bodies (LBs), in the brain and peripheral tissues. LD is caused by mutations in either EPM2A or EPM2B genes, which, respectively, encode laforin, a glucan phosphatase, and malin, an E3-ubiquitin ligase, with identical clinical features.

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The intestine, which is constantly exposed to an extensive range of antigens and immune stimuli, harbours a large number of highly diverse CD4 T helper (Th) cells. Maintaining a balance between pro-inflammatory and tolerogenic intestinal Th cell subsets is crucial for the homeostasis and functionality of the gastrointestinal tract. Recent evidence suggests that epigenetic mechanisms play a vital role for Th cell differentiation and specialization, and dysregulation of these epigenetic regulations can result in an imbalance of Th cell subsets, causing the onset and progression of intestinal inflammatory diseases.

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