Publications by authors named "Rosario Sanchez Martinez"

Article Synopsis
  • The study aimed to analyze acute poisonings in the emergency department, focusing on patients aged 65 and older compared to younger adults.
  • Researchers collected data on the demographics, types of poisons, and adherence to quality indicators (QIs) in the treatment of these patients.
  • Findings showed that older patients had different poisoning patterns (more accidental, fewer intentional) but similar compliance with QIs, indicating effective management regardless of age.
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Background: Common Variable Immunodeficiency (CVID) represents a heterogenic group of primary immunodeficiencies (PID) characterized by impaired antibody production and susceptibility to infections. Non-infectious complications, such as autoimmune diseases, lymphoproliferative disorders, and malignancies, now significantly impact prognosis. Moreover, both hematologic and solid organ malignancies are more frequently observed in CVID patients compared to other PIDs.

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: The aim of the following cross-sectional study is to determine the association between human leukocyte antigen (HLA) alleles and outcomes in patients presenting to the emergency department (ED) with SARS-CoV-2 infection. : Genotyping was made using the Axiom Human Genotyping SARS-CoV-2 Research Array. Statistical analysis was made with Fisher's exact test and multivariable logistic regression, adjusted for sex, age and clinical variables.

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  • * The study aimed to analyze cytokines and cardiovascular markers in the plasma of Fabry disease patients, both treated and untreated, to assess their potential in monitoring disease progression and treatment effects.
  • * Researchers identified several markers associated with inflammation and endothelial dysfunction that are elevated in Fabry patients, suggesting they could be used to predict disease severity and assess treatment outcomes, despite their non-specificity to the condition.
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Article Synopsis
  • Fabry disease (FD) is a rare genetic disorder caused by low levels of α-galactosidase A enzyme, leading to various complications that make diagnosis and understanding the disease more challenging.
  • Researchers analyzed the plasma proteins of 50 FD patients and 50 healthy individuals and found over 30 different proteins associated with inflammation, metabolism, and other biological processes that vary based on sex.
  • Notably, certain proteins like apolipoprotein A-IV were identified as strong indicators for complications like chronic kidney disease in FD patients, outperforming traditional renal markers and enhancing the potential for earlier diagnosis and better understanding of the disease.
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  • Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a rare genetic condition linked to mutations in the FH gene, with a prevalent mutation identified in a large cohort from Spain.
  • The study confirmed that a common variant, FH c.1118A > G p.(Asn373Ser), likely originated from a single ancestor 12-26 generations ago, causing specific health issues such as uterine leiomyomatosis and renal cell cancer in affected individuals.
  • In Alicante, Spain, this founder mutation is prevalent, and genetic testing for this specific mutation is suggested as a more efficient diagnostic method than full gene sequencing for those suspected of having HLRCC.
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  • The study aimed to analyze the characteristics and outcomes of severe spontaneous bleeding in COVID-19 patients, focusing on clinical and laboratory data from hospitalized individuals between March 2020 and February 2022.
  • Out of 2,450 COVID-19 patients, 20 developed severe intramuscular hematomas, often associated with older age, significant comorbidities, and high-dose heparin treatment, with a 45% mortality rate observed.
  • The conclusion highlighted that while such bleeding complications are rare, they occur more frequently in COVID-19 patients compared to others, require medical intervention like embolization, and carry a substantial risk of death.
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Background: Frailty is a physiological condition characterized by a decreased reserve to stressors. In patients with COVID-19, frailty is a risk factor for in-hospital mortality. The aim of this study was to assess the relationship between clinical presentation, analytical and radiological parameters at admission, and clinical outcomes according to frailty, as defined by the Clinical Frailty Scale (CFS), in old people hospitalized with COVID-19.

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Article Synopsis
  • Common Variable Immunodeficiency (CVID) is a diverse group of primary immunodeficiency disorders that presents a wide range of clinical challenges, including significant non-infectious health issues among patients.
  • A nationwide study in Spain over three years examined 250 CVID patients, revealing a diagnostic delay of about 10 years, with infectious complications initially predominant, though non-infectious lung diseases and immune disorders were more common overall.
  • The study highlighted a high prevalence of associated conditions, such as benign lymphoproliferation and cancers, indicating a need for further research to develop better treatment strategies and improve the quality of life for those affected by CVID.
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Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we report 32 individuals with AKS (26 previously unpublished), including 13 with de novo missense variants.

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Background: Autopsies can shed light on the pathogenesis of new and emerging diseases.

Aim: To describe needle core necropsy findings of the lung, heart, and liver in decedents with COVID-19.

Material: Cross-sectional study of needle core necropsies in patients who died with virologically confirmed COVID-19.

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Background: In older adult patients, bloodstream infections cause significant mortality. However, data on long-term prognosis in very elderly patients are scarce. This study aims to assess 1-year mortality from bacteraemia in very elderly patients.

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Objective: There is early evidence about Valproic acid (VPA) antiviral effect. Our aim was to investigate the incidence and severity of SARS-CoV-2 infection in VPA users as compared with the general population.

Material And Methods: A case-control study nested within a cohort, carried out between March 1 and December 17, 2020.

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Objectives: To describe breakthrough COVID-19 infection in patients who needed hospitalization and the factors associated with poor outcomes.

Methods: We conducted a retrospective study on patients hospitalized with COVID-19 between December 27, 2020, and October 17, 2021, with either a complete vaccination (CV) scheme (diagnosed 2 weeks after the second dose of the Pfizer/Moderna/AstraZeneca or first dose of the Janssen vaccine was administered) or a partial vaccination (PV) scheme. The main outcomes were all-cause mortality and the need for invasive mechanical ventilation (IMV).

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This study aimed to analyse the diversity and taxonomic composition of the nasopharyngeal microbiota, to determine its association with COVID-19 clinical outcome. To study the microbiota, we utilized 16S rRNA sequencing of 177 samples that came from a retrospective cohort of COVID-19 hospitalized patients. Raw sequences were processed by QIIME2.

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Descriptions of end-of-life in COVID-19 are limited to small cross-sectional studies. We aimed to assess end-of-life care in inpatients with COVID-19 at Alicante General University Hospital (ALC) and compare differences according to palliative and non-palliative sedation. : This was a retrospective cohort study in inpatients included in the ALC COVID-19 Registry (PCR-RT or antigen-confirmed cases) who died during conventional admission from 1 March to 15 December 2020.

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Objectives: Frailty can be used as a predictor of adverse outcomes in people with coronavirus disease 2019 (COVID-19). The aim of the study was to analyse the prognostic value of two different frailty scores in patients hospitalised for COVID-19.

Material And Methods: This retrospective cohort study included adult (≥18 years) inpatients with COVID-19 and took place from 3 March to 2 May 2020.

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Background: Although recommendations to prevent COVID-19 healthcare-associated infections (HAIs) have been proposed, data on their effectivity are currently limited.

Objective: The aim was to evaluate the effectivity of a program of control and prevention of COVID-19 in an academic general hospital in Spain.

Methods: We captured the number of COVID-19 cases and the type of contact that occurred in hospitalized patients and healthcare personnel (HCP).

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Article Synopsis
  • Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic vascular disorder primarily linked to mutations in the ENG and ACVRL1 genes, with over 90% of cases having identifiable genetic variants.
  • A study of 215 HHT patients in Spain revealed that 80% met the Curaçao criteria for diagnosis, with ACVRL1 mutations occurring in 68.1% of those genetically tested, while 31.8% had ENG mutations.
  • The findings indicated that patients with ENG mutations tend to be diagnosed at a younger age and have more pulmonary and cerebral arteriovenous malformations, whereas ACVRL1 patients experience higher rates of liver disease and anemia.
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People over 80 years old are now the fastest-growing age group. Bloodstream infections (BSI) in these patients may present with specific characteristics. The objective of this study was to analyze independent factors affecting in-hospital mortality (IHM) due to BSI in very elderly patients (≥80 years of age) and to compare the clinical presentation of BSI in patients aged 80-89 years versus those aged 90 or more.

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Background And Objective: Currently, there are not many data on the evolution of nodular regenerative hyperplasia (NRH) associated or not with underlying diseases and in particular that associated with common variable inmunodeficiency (CVID). Twenty cases of NRH are presented, and the differences between the cases associated with CVID and those related to other diseases are analysed.

Methods: Retrospective and descriptive study over a period of 14 years.

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Introduction: Whipple's disease is a rare infectious disease caused by Tropheryma whipplei with protean clinical manifestations. This infection may mimic chronic inflammatory rheumatisms.

Case Presentation: We report two cases of Whipple's disease diagnosed in the context of an inflammatory disease with anti-tumor necrosis factor alpha failure.

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Introduction: To determine the infectious diseases (ID) that led to hospital admission of the foreign population>14 years.

Material And Methods: A retrospective study of foreign patients admitted to hospital (2000-2012).

Results: A total of 3,087 foreigners were admitted with infectious diseases.

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