22 results match your criteria: "Hospital Universitario Insular-Materno Infantil[Affiliation]"

Objective: To assess the safety of fertility-sparing treatments for early-stage ovarian cancer in women younger than 40 years old.

Methods: We performed a retrospective multicenter study including women aged 18-40 years diagnosed with early-stage (FIGO I-II) ovarian cancer in 55 Spanish hospitals, from January 2010 to December 2019. Benign and borderline tumors were excluded, as well as advanced stages (FIGO III-IV).

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Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study.

Am J Kidney Dis

December 2024

Nephrology Department, Hospital Universitario Infanta Leonor, Universidad Autónoma de Madrid, Madrid; RICORS2040, Universidad Autónoma de Madrid, Madrid; Universidad Complutense de Madrid, Universidad Autónoma de Madrid, Madrid. Electronic address:

Article Synopsis
  • Chronic kidney disease of unknown etiology (CKDUE) is a leading global cause of kidney failure, and the GENSEN Study aimed to explore its genetic causes through extensive genetic testing on a large patient population.
  • The study involved 818 patients under 45 with advanced CKDUE, discovering pathogenic gene variants in about 25% of them, with type IV collagen genes being the most commonly affected.
  • The research revealed significant previously undiagnosed genetic kidney diseases, suggesting that genomic testing can be a valuable approach in understanding and treating CKDUE.
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Massive bleeding due to rupture of hypogastric artery pseudoaneurysm is an exceptional complication of colorectal anastomotic leakage. A 41-year-old woman with history of rectal cancer surgery, who debuted with massive rectorrhagia and hypovolemic shock due to rupture of a hypogastric artery pseudoaneurysm as a late complication of a colorectal anastomosis leak. The ruptured hypogastric artery pseudoaneurysm should be taken into account in the differential diagnosis of patients with massive rectorrhagia and history of colorectal anastomosis leak.

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Study Design: Survey study.

Objectives: People living with spinal cord injury (SCI) are major healthcare and rehabilitation services consumers and have unmet healthcare needs. This study aimed to describe the socioeconomic characteristics of people living with SCI in Spain and to determine the level of use and satisfaction with the public healthcare system.

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The Healthy Lifestyle Habits Screening Questionnaire: A pilot study in the Canary Islands.

Endocrinol Diabetes Nutr (Engl Ed)

May 2023

Asociación Canaria para la Investigación Pediátrica (ACIP Canarias), Spain; Pediatric Endocrinology Unit, Complejo Hospital Universitario Insular Materno-Infantil de Gran Canaria, The Canary Islands, Spain. Electronic address:

Objective: This study aimed to assess the validity and reliability of a self-administered screening questionnaire to detect deficiencies in the health habits of the adult population of the Canary Islands (Spain).

Design: The questionnaire initially included 30 items based on previous questionnaires and following the recommendations of the World Health Organization about healthy and unhealthy diet, screen time, physical activity, and sleep habits. It also included a section related to hygiene due to the importance that hygienic habits have in people's health.

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Introduction: Tocilizumab (TCZ) treatment is associated with dyslipidaemia, including a rise in triglycerides through a mechanism poorly understood. Three molecules play key roles in the regulation of triglyceride metabolism: apolipoprotein C-III (ApoC-III), angiopoietin-like protein 4(ANGPLT4) and lipoprotein lipase (LPL). The aim of this work was to analyse whether the changes in triglycerides shown by TCZ-treated RA patients could stem from the dysregulation that can occur in these regulatory molecules.

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Hereditary angioedema (HAE) is a rare disease where known causes involve C1 inhibitor dysfunction or dysregulation of the kinin cascade. The updated HAE management guidelines recommend performing genetic tests to reach a precise diagnosis. Unfortunately, genetic tests are still uncommon in the diagnosis routine.

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Hereditary angioedema (HAE) is a rare genetic condition whose main symptoms are recurrent swelling in the skin, mucosa, and internal organs. Recent studies suggested that the regulation of the inflammatory response and the complement cascade are two of the pathways significantly enriched in the Canary Islands, Spain. Here, we describe the first HAE patient series in this region.

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The first case of small-bowel carcinoma (SBC) associated with Crohn's disease (CD) was described by Ginzburg in 1956. Since then, only 220 cases have been published in the literature.

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Background: One hundred fifty million contagions, more than 3 million deaths and little more than 1 year of COVID-19 have changed our lives and our health management systems forever. Ageing is known to be one of the significant determinants for COVID-19 severity. Two main reasons underlie this: immunosenescence and age correlation with main COVID-19 comorbidities such as hypertension or dyslipidaemia.

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A 41-year-old female patient was under study for abdominal pain located in the epigastrium and mesogastrium with no other associated symptoms. There was no record of previous episodes of pancreatitis and she denied abdominal trauma and laboratory tests were normal. A computed tomography (CT) scan was performed.

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Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.

Parkinsonism Relat Disord

November 2020

Paediatric Neurology Research Group, Hospital Vall d'Hebrón, Universitat Autònoma de Barcelona, Spain; Paediatric Neurology Department, Hospital Vall d'Hebron, Barcelona, Spain. Electronic address:

Objective: To perform phenotype and genotype characterization in myoclonus-dystonia patients and to validate clinical rating tools.

Method: Two movement disorders experts rated patients with the Burke-Fahn-Marsden and Unified-Myoclonus rating scales using a video-recording protocol. Clinimetric analysis was performed.

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Background: The SARS-CoV-2 infection has widely spread to become the greatest public health challenge to date, the COVID-19 pandemic. Different fatality rates among countries are probably due to non-standardized records being carried out by local health authorities. The Spanish case-fatality rate is 11.

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Meningococcal infection associates high morbidity and mortality. Viral coinfection has been described mainly with herpes and respiratory virus. We describe a child who suffered a tonic-clonic seizure with hypotension, tachycardia and low Glasgow Coma Scale.

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Patients after a Fontan operation exhibit some degree of fibrosis which are primarily located in a sinusoidal or centrilobular pattern. Cirrhosis may develop years later and the incidence of cancer is up to 5%. That is why some authors recommend that patients who are >10 years out from their Fontan operation should undergo cardiac assessment as well as the determination of alpha-fetoprotein level, the realization of liver imaging tests or even liver biopsy to stay ahead of neoplastic transformation.

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Introduction: CYP2C19 is a major isoform of cytochrome P450 that metabolizes a number of drugs and is involved in the glucocorticoids synthesis. CYP2C19 polymorphisms have been associated with the genetic risk for type 2 diabetes.

Methods: Five hundred and three patients with an acute coronary event were studied to assess the association between the CYP2C19 activity (CYP2C19*2, CYP2C19*3 and CYP2C19*17 variants) and the type of acute coronary syndrome, cardiovascular risk factors (arterial systemic hypertension, diabetes mellitus, dyslipidemia and smoking), analytical parameters and the extent and severity of coronary atherosclerosis.

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Introduction: Paraoxonase 1 (PON1) plays a major role in the oxidation of low density lipoprotein and in the prevention of coronary atherogenesis. In this context, coding region polymorphisms of PON1 gene, responsible for the enzyme activity, has become of interest as a marker for atherogenesis.

Methods: A study and follow-up was conducted on 529 patients with an acute coronary event in order to assess the association between the PON1 Q192R (rs662;A/G) polymorphism, the type of acute coronary syndrome, cardiovascular risk factors (arterial hypertension, diabetes mellitus, dyslipidaemia, and smoking), the extent and severity of coronary atherosclerosis, and the medium-term clinical follow-up.

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Aplastic anemia is a life-threatening bone marrow failure disorder characterized by peripheral pancytopenia and marrow hypoplasia. The majority of cases of aplastic anemia remain idiopathic, although hematopoietic stem cell deficiency and impaired immune responses are hallmarks underlying the bone marrow failure in this condition. Mesenchymal stem/stromal cells constitute an essential component of the bone marrow hematopoietic microenvironment because of their immunomodulatory properties and their ability to support hematopoiesis, and they have been involved in the pathogenesis of several hematologic malignancies.

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