82 results match your criteria: "Hospital Infantil "La Fe" de Valencia[Affiliation]"

Article Synopsis
  • 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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Article Synopsis
  • The article reviews the 2023 activity report from the Interventional Cardiology Association of the Spanish Society of Cardiology, highlighting key trends in interventional cardiology practices in Spain.
  • A survey involving 119 hospitals revealed a slight decrease in diagnostic studies but an increase in percutaneous coronary interventions (PCI), with a notable rise in the use of drug-coated balloons and techniques for plaque modification.
  • The findings indicate a stabilization in coronary interventions while showcasing a growth in complex procedures, particularly for valvular and nonvalvular structural heart diseases, with primary PCI becoming the leading treatment for myocardial infarction.
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Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries.

Dig Liver Dis

September 2024

Grupo de Investigación Patología Médica, Instituto de Investigaciones Biomédicas y Sanitarias. Universidad de Las Palmas de Gran Canaria. Servicio Digestivo, Complejo Hospitalario Universitario Insular Materno Infantil (CHUIMI), Las Palmas de Gran Canaria, Spain. Electronic address:

Article Synopsis
  • Wilson disease is a genetic disorder affecting copper metabolism, primarily linked to mutations in the ATP7B gene, showing a wide range of clinical symptoms among patients.
  • A study of 260 patients revealed that some common mutations, particularly p.Met645Arg and p.Gly869Arg, are underreported due to their milder symptoms, leading to a higher estimated prevalence than recorded (1:3,785, suggesting over 10,500 potential cases in Spain).
  • The findings indicate that individuals with the p.Met645Arg mutation often have fewer severe symptoms at diagnosis and are more likely to be diagnosed later in life, underscoring the need for increased awareness and early intervention.
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Background: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF).

Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021.

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Article Synopsis
  • Atopic dermatitis (AD) and allergic contact dermatitis (ACD) are different inflammatory skin conditions, and the study aimed to explore their relationship further among patients referred for patch testing.
  • Researchers analyzed data from the Spanish Registry of Research in Contact Dermatitis and Cutaneous Allergy (REIDAC) to compare contact allergies and other clinical details between patients with AD and those without.
  • The study found that while both groups showed similar allergy profiles, patients with AD had a lower likelihood of being sensitized to nickel sulphate compared to non-AD patients.
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Profile of plasma microRNAs as a potential biomarker of Wilson's disease.

J Gastroenterol

October 2024

Unit of Rare Neurodegenerative Diseases, Valencia Biomedical Research Foundation-Centro de Investigación Príncipe Felipe (CIPF), Calle Eduardo Primo Yúfera No. 13, 46012, Valencia, Spain.

Background: Wilson's disease (WD) is a rare condition resulting from autosomal recessive mutations in ATP7B, a copper transporter, manifesting with hepatic, neurological, and psychiatric symptoms. Timely diagnosis and appropriate treatment yield a positive prognosis, while delayed identification and/or insufficient therapy lead to a poor outcome. Our aim was to establish a prognostic method for WD by characterising biomarkers based on circulating microRNAs.

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Article Synopsis
  • The WPAI-UC/CD-Caregiver questionnaires evaluate how ulcerative colitis (UC) and Crohn's disease (CD) affect the work life and daily activities of caregivers in Spain.
  • The study involved translating the questionnaires, getting feedback from experts and families, and validating them using data from 370 patients and their caregivers, ensuring they are effective and quick to complete.
  • Results showed good reliability and validity of the Spanish versions of the questionnaires, making them suitable for use by families of children with inflammatory bowel disease (IBD).
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Background: A nationwide, prospective, multicenter, cohort study (the Disease-Related caloric-protein malnutrition EChOgraphy (DRECO) study) was designed to assess the usefulness of ultrasound of the rectus femoris for detecting sarcopenia in hospitalized patients at risk of malnutrition and to define cut-off values of ultrasound measures.

Methods: Patients at risk of malnutrition according to the Malnutrition Universal Screening Tool (MUST) underwent handgrip dynamometry, bioelectrical impedance analysis (BIA), a Timed Up and Go (TUG) test, and rectus femoris ultrasound studies. European Working Group on Sarcopenia in Older People (EWGSOP2) criteria were used to define categories of sarcopenia (at risk, probable, confirmed, severe).

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Sex-Related Differences in the Phenotype and Course of Inflammatory Bowel Disease: SEXEII Study of ENEIDA.

Clin Gastroenterol Hepatol

November 2024

Gastroenterology Department, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain; Instituto de Investigación Sanitaria de Aragón, Zaragoza, Spain; University of Zaragoza, School of Medicine, Zaragoza, Spain.

Background & Aims: The impact of patient sex on the presentation of inflammatory bowel disease (IBD) has been poorly evaluated. Our aims were to assess potential disparities in IBD phenotype and progression between sexes.

Methods: We performed an observational multicenter study that included patients with Crohn's disease (CD) or ulcerative colitis from the Spanish Estudio Nacional en Enfermedad Inflamatoria intestinal sobre Determinantes genéticos y Ambientales registry.

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Background: In 2015, the Spanish National Transplant Organization developed a prioritization system (Program for Access to Transplantation for Highly Sensitized Patients [PATHI]) to increase transplant options for patients with calculated panel-reactive antibodies (cPRAs) ≥98%, based on virtual crossmatch. We describe the experience with the implementation of PATHI and assess its efficacy.

Methods: PATHI registry was used to collect characteristics of donors and patients between June 15, 2015, and March 1, 2018.

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Purpose: The Atezo-Brain study evaluated atezolizumab combined with chemotherapy in patients with advanced non-small-cell lung cancer (NSCLC) with untreated brain metastases, a population traditionally excluded from trials.

Methods: This single-arm phase II clinical trial enrolled patients with advanced nonsquamous NSCLC with untreated brain metastases without neurologic symptoms or asymptomatic with medical treatment. Dexamethasone was allowed up to 4 mg once daily.

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Microbial and immune faecal determinants in infants hospitalized with COVID-19 reflect bifidobacterial dysbiosis and immature intestinal immunity.

Eur J Pediatr

October 2023

Department of Microbiology and Biochemistry of Dairy Products, Instituto de Productos Lácteos de Asturias (IPLA), Consejo Superior de Investigaciones Científicas (CSIC), Villaviciosa, Asturias, Spain.

Unlabelled: The coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has spread rapidly worldwide, seriously endangering human health. Although SARS-CoV-2 had a lower impact on paediatric population, children with COVID-19 have been reported as suffering from gastrointestinal (GI) symptoms at a higher rate than adults. The aim of this work was to evaluate faeces as a source of potential biomarkers of severity in the paediatric population, with an emphasis on intestinal microbiota and faecal immune mediators, trying to identify possible dysbiosis and immune intestinal dysfunction associated with the risk of hospitalization.

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Anti-CD19 chimeric antigen receptor T cells (CART) has rapidly been adopted as the standard third-line therapy to treat aggressive B-cell lymphomas (ABCL) after failure of second-line therapy despite the lack of direct comparisons with allogeneic hematopoietic cell transplantation (alloHCT)-based strategies. Using the Grupo Español de Trasplante y Terapia Celular (GETH-TC) registry, we selected patients with the following characteristics: CART or alloHCT performed between 2016 and 2021; ≥18 years old; ABCL diagnosis; ≥2 lines of therapy; and either anti-CD19 CART or alloHCT as therapy at relapse. The analysis included a total of 316 (CART = 215, alloHCT = 101) patients.

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Celiac disease is strongly associated with HLA DQ, specifically with haplotypes. DRB1*03-DQA1*05:01/DQB1*02:01 (DQ2.5),DRB1*07-DQA1*02:01/DQB1*02:02 (DQ2.

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Antimicrobial stewardship in hospitals: Expert recommendation guidance document for activities in specific populations, syndromes and other aspects (PROA-2) from SEIMC, SEFH, SEMPSPGS, SEMICYUC and SEIP.

Enferm Infecc Microbiol Clin (Engl Ed)

April 2023

Unidad Clínica de Enfermedades Infecciosas y Microbiología, Hospital Universitario Virgen Macarena, Instituto de Biomedicina de Sevilla, CSIC, Departamento de Medicina, Universidad de Sevilla, Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Sevilla, Spain.

In 2012, The Spanish Societies of Infectious Diseases and Clinical Microbiology (SEIMC), Hospital Pharmacy (SEFH), and Preventive Medicine, Public Health and Healthcare Management (SEMPSGS) lead a consensus document including recommendations for the implementation of antimicrobial stewardship (AMS) programs (AMSP; PROA in Spanish) in acute care hospitals in Spain. While these recommendations were critical for the development of these programs in many centres, there is a need for guidance in the development of AMS activities for specific patient populations, syndromes or other specific aspects which were not included in the previous document or have developed significantly since then. The objective of this expert recommendation guidance document is to review the available information about these activities in these patient populations or circumstances, and to provide guidance recommendations about them.

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Article Synopsis
  • The Spanish Registry of Primary Cutaneous Lymphomas (RELCP) has analyzed data from 2020 patients over five years, revealing demographic details and treatment outcomes.
  • Nearly 75% of patients were diagnosed at stage I, with mycosis fungoides/Sézary syndrome as the most common type (55%).
  • The majority of treatments included topical corticosteroids and phototherapy, with a significant percentage achieving complete remission or stability post-treatment.
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Article Synopsis
  • * Data was collected from 17 centers, revealing 29 mutations in 144 patients, with the most common being p.Gly38Arg, and showing significant regional variations and the presence of novel mutations.
  • * Older age at onset and female sex were linked to faster progression and shorter survival, indicating the need for targeted treatment approaches for SOD1 mutations in ALS.
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Introduction: Childhood pulmonary tuberculosis (TB) remains a diagnostic challenge. This study aimed to evaluate the performance of Xpert Ultra for the diagnosis of pulmonary TB in children in a low TB prevalence setting.

Methods: Prospective, multicentre, diagnostic accuracy study.

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Obsessional intrusive thoughts in children: An interview based study.

Psychol Psychother

March 2023

Faculty of Health, School of Health Sciences, University of Canterbury, Christchurch, New Zealand.

Objectives: We aimed to investigate the experience of obsessional intrusive thoughts (OITs) in a sample of children aged 8 to 10 years old and to test the main tenets of the cognitive model of OCD. Specifically, we assessed: (1) the prevalence of OITs experienced by young children; (2) their frequency and content; (3) the emotions they evoke; (4) the reasons why they are upsetting; (5) how they are appraised (6) and what control strategies they use.

Methods: Forty-nine children (28 girls, 21 boys; mean age 9.

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Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Int J Mol Sci

October 2022

Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain .

Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated cases compatible with abnormal brain iron deposits are known. The patients were evaluated using standardised clinical assessments of ataxia and MDs.

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Objectives: The objective of this study was to assess the association between serological markers and changes of the intestinal mucosa in children with celiac disease (CD).

Methods: Clinical data from CD patients under 15 years old were collected from the participating centers in an on-line multicenter nationwide observational Spanish registry called REPAC-2 (2011-2017). Correlation between anti-tissue transglutaminase antibodies (t-TGA) levels and other variables, including mucosal damage and clinical findings (symptoms, age, and gender), was assessed.

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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.

J Clin Med

August 2022

Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, CIBERER, 28041 Madrid, Spain.

Background and objectives: Glycerol phenylbutyrate (GPB) has demonstrated safety and efficacy in patients with urea cycle disorders (UCDs) by means of its clinical trial program, but there are limited data in clinical practice. In order to analyze the efficacy and safety of GPB in clinical practice, here we present a national Spanish experience after direct switching from another nitrogen scavenger to GPB. Methods: This observational, retrospective, multicenter study was performed in 48 UCD patients (age 11.

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Brentuximab vedotin in the treatment of cutaneous T-cell lymphomas: Data from the Spanish Primary Cutaneous Lymphoma Registry.

J Eur Acad Dermatol Venereol

January 2023

Department of Dermatology, Hospital Universitari de Bellvitge, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.

Background: Brentuximab vedotin (BV) has been approved for CD30-expressing cutaneous T-cell lymphoma (CTCL) after at least one previous systemic treatment. However, real clinical practice is still limited.

Objectives: To evaluate the response and tolerance of BV in a cohort of patients with CTCL.

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Cross-cultural adaptation to Spanish and content validity of three nutritional risk scales.

An Pediatr (Engl Ed)

July 2022

Grupo de Investigación en Nutrición Pediátrica, Instituto de Investigación INCLIVA, Valencia, Spain. Electronic address:

Introduction: There are various scales designed to determine the risk of malnutrition at hospital admission in children. However, most of these instruments are developed and published in English. Their cross-cultural adaptation and validation being mandatory in order to be used in our country.

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