A5053991104- Iron Metabolism and Disorders
- Hemoglobinopathies and Related Disorders
- Trace Elements in Health
- Parkinson's Disease Mechanisms and Treatments
- Restless Legs Syndrome Research
- Tumors and Oncological Cases
- Cancer Diagnosis and Treatment
- Sarcoma Diagnosis and Treatment
- Folate and B Vitamins Research
- Clostridium difficile and Clostridium perfringens research
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Sleep and Wakefulness Research
- Lipoproteins and Cardiovascular Health
- Hematological disorders and diagnostics
- Chronic Lymphocytic Leukemia Research
- Bone health and osteoporosis research
- Medical and Biological Sciences
- Cancer and Skin Lesions
- Heme Oxygenase-1 and Carbon Monoxide
- Autoimmune and Inflammatory Disorders Research
- CNS Lymphoma Diagnosis and Treatment
- Apelin-related biomedical research
- Parkinson's Disease and Spinal Disorders
- Advanced Glycation End Products research
- Erythropoietin and Anemia Treatment
Hospital General Universitario Gregorio Marañón
2009-2024
Hospital General Universitario De Valencia
2023
Spanish Society of Family and Community Medicine
2017
Universidad Complutense de Madrid
2012
Sociedad Española de Medicina Interna
2011
Universidad de Las Palmas de Gran Canaria
2005
Objective: To study lesions in the oral cavity of patients with hereditary hemochromatosis and determine their association iron overload.Study Design: We took a clinical history, examined pigmentation mucosa, measured total stimulated saliva production.We correlated our results epidemiological, phenotypic, genotypic findings.Patients associated diseases or drug therapy causing xerostomia were excluded.Results: evaluated 25 (20 men, mean age 52 years) over period 6 months.No patient...
Ferroportin disease is an inherited disorder of iron metabolism and caused by mutations in the ferroportin gene (SLC40A1). We present a patient with hyperferritinemia, overload liver reticuloendothelial distribution also spleen, under treatment erythropheresis. A molecular study genes involved (HFE, HJV, HAMP, TFR2, SLC40A1) was undertaken. In vitro functional studies novel mutation found SLC40A1 performed. The heterozygous for mutation, c.386T>C (p.L129P) gene; some his relatives were this...
The most common form of hemochromatosis is caused by mutations in the HFE gene. Rare forms disease are other genes. We present a patient with hyperferritinemia and iron overload, facial flushing. Magnetic resonance imaging was performed to measure hepatic molecular study genes involved metabolism undertaken. overload similar that observed hemochromatosis, double heterozygous for two novel mutations, c.−20G>A c.718A>G (p.K240E), ferroportin (FPN1 or SLC40A1) genes, respectively....
Iron overload disease has a wide variety of genotypes.The genetic study this confirms its hereditary nature and enables us to provide counseling for first-degree relatives.We performed magnetic resonance imaging liver biopsy in an asymptomatic patient with more than 1,000 µg/L serum ferritin studied the genes involved condition.The phenotype iron is confirmed by predominantly periportal pattern deposits suggestive disease.In case we present molecular revealed double heterozygosity mutations...
Abstract Severe disease caused by C lostridium difficile is frequently encountered in transplant recipients and carries a high mortality. Numerous studies have been published on this subject the adult population, but few pediatric setting. A 4‐year‐old boy who had undergone heart 20 months earlier was admitted to intensive care unit after humoral rejection. Seven days admission, he developed septic shock, abdominal distension, paralytic ileus without diarrhea. Pseudomembranous colitis due ....
INTRODUCCIÓNEl linfoma del manto (LM) es un no Hodgkin (LNH) de células B, agresividad intermedia, que representa el 7-8% todos los LNH adulto en Estados Unidos y Europa (1).Se trata una neoplasia incurable, con mediana supervivencia global unos 3 años, libre enfermedad aproximadamente año tratamientos convencionales.Una variante rara LM la blastoide algunos estudios parece tener comportamiento más agresivo, 18 meses (2).Es propia personas mayores, marcada predominancia sexo masculino (75%...
INTRODUCCIÓNEl sarcoma histiocítico es una neoplasia de etiología desconocida, que se caracteriza por la proliferación células neoplásicas presentan rasgos morfológicos e inmunofenotípicos propios los histiocitos tisulares (1,2).El cursa con afectación diseminada órganos del sistema mononuclear fagocítico, tales como hígado, bazo, ganglios linfáticos, intestino delgado y piel. CASO APORTADOAnamnesis: Presentamos el caso mujer 75 años, antecedentes personales diabetes mellitus tipo 2...