RESUMEN
La oftalmopatía de Graves (OG) es un desorden autoinmune que representa la manifestación extratiroidea más frecuente de la Enfermedad de Graves. Se describen múltiples factores que pueden influir en el desarrollo/progresión de la enfermedad, entre ellos el tratamiento con I131. El objetivo de esta monografía es analizar la bibliografía existente sobre la relación entre OG y tratamiento con I131, teniendo en cuenta su fisiopatología así como los factores de riesgo asociados y su profilaxis.
Graves´ ophthalmopathy (GO) is an autoimmune disorder representing the most common extrathyroidal manifestation of Graves' disease. Multiple factors can influence the development / progression of the disease, including treatment with 131I. The aim of this paper is to analyze the existing literature on the relationship between OG and treatment with I131, considering the pathophysiology and associated risk factors and prophylaxis.
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PURPOSE: The aim of this paper is to describe the imaging features of central nervous system (CNS) tuberculosis on computed tomography (CT) and magnetic resonance imaging (MRI) studies in non-HIV-positive children. MATERIALS AND METHODS: A retrospective descriptive evaluation was conducted on imaging studies obtained from ten children admitted to our hospital over a 6-year period who fulfilled criteria for a diagnosis of CNS tuberculosis. Data were collected with regard to patients' clinical, laboratory and demographic characteristics, as well as results of radiological investigation. RESULTS: We studied ten children, of whom five were boys and five were girls and whose mean age was 4 (range 7 months to 16) years. Neuroradiological findings on the first imaging study were basal meningeal enhancement (100%), hydrocephalus (70%), infarcts (90%), tuberculomas (40%) and cranial nerve involvement (20%). Follow-up studies revealed basal meningeal enhancement, hydrocephalus, and infarcts in all patients, tuberculomas in 70% and cranial nerve involvement in 50%. Only one patient showed a pattern of miliary tuberculosis. CONCLUSIONS: CNS tuberculosis is still an important cause of childhood morbidity and mortality even in nonimmunosuppressed children. Because prompt diagnosis results in earlier treatment, it is crucial to be aware of tuberculous meningitis and its complications at imaging, especially because of the impact on patients' prognosis.
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Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X , Tuberculosis del Sistema Nervioso Central/diagnóstico , Adolescente , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Masculino , Estudios RetrospectivosRESUMEN
OBJECTIVE: NLRP12 mutations have been described in patients affected with peculiar autoinflammatory symptoms. This study was undertaken to characterize NLRP12 mutations in patients with autoinflammatory syndromes, particularly a novel missense mutation, p.D294E, affecting a protein sequence crucial for ATP binding, which was identified in a Caucasian family with familial cold-induced autoinflammatory syndrome in some family members. METHODS: Fifty patients were tested for NLRP12 mutations. A Caucasian family with the p.D294E missense mutation of NLRP12 in some family members was clinically characterized. In vitro analysis of the effects of the mutation on NF-κB activity was performed in HEK 293 cells after cotransfection of the cells with a luciferase NF-κB-responsive element and mutant or wild-type (WT) NLRP12 expression plasmids. NF-κB activity was also evaluated 24 hours after stimulation with tumor necrosis factor α in monocytes from individual family members carrying the mutation. Furthermore, secretion of interleukin-1ß (IL-1ß), production of reactive oxygen species (ROS), and activation of antioxidant systems in patient and healthy donor monocytes, under resting conditions and after stimulation with pathogen-associated molecular patterns (PAMPs), were also assessed. RESULTS: In the family assessed, the p.D294E mutation segregated in association with a particular sensitivity to cold exposure (especially arthralgias and myalgia), but not always with an inflammatory phenotype (e.g., urticarial rash or fever). In vitro, the mutant protein maintained the same inhibitory activity as that shown by WT NLRP12. Consistently, NLRP12-mutated monocytes showed neither increased levels of p65-induced NF-κB activity nor higher secretion of IL-1ß. However, the kinetics of PAMP-induced IL-1ß secretion were significantly accelerated, and high production of ROS and up-regulation of antioxidant systems were demonstrated. CONCLUSION: Even with a variable range of associated manifestations, the extreme sensitivity to cold represents the main clinical hallmark in an individual carrying the p.D294E mutation of the NLRP12 gene. Although regulation of NF-κB activity is not affected in patients, redox alterations and accelerated secretion of IL-1ß are associated with this mild autoinflammatory phenotype.
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Frío/efectos adversos , Síndromes Periódicos Asociados a Criopirina/genética , Péptidos y Proteínas de Señalización Intracelular/genética , Mutación Missense , Adulto , Anciano , Síndromes Periódicos Asociados a Criopirina/inmunología , Síndromes Periódicos Asociados a Criopirina/metabolismo , Salud de la Familia , Femenino , Células HEK293 , Humanos , Interleucina-1beta/metabolismo , Péptidos y Proteínas de Señalización Intracelular/inmunología , Masculino , Persona de Mediana Edad , Monocitos/inmunología , Monocitos/metabolismo , FN-kappa B/metabolismo , Estrés Oxidativo/inmunología , Linaje , Fenotipo , Población Blanca/genéticaRESUMEN
The anatomic extent of brain stem damage may provide information about clinical outcome and prognosis in children with hypoxic-ischemic encephalopathy and oral motor dysfunction. The aim of this study was to retrospectively characterize the location and extent of brain stem lesions in children with oral motor dysfunction. From January 2005 to August 2009, 43 infants hospitalized at our institution were included in the study because of a history of hypoxic-ischemic events. Of this group, 14 patients showed oral motor dysfunction and brain stem tegmental lesions detected at MR imaging. MR imaging showed hypoxic-ischemic lesions in supra- and infratentorial areas. Six of 14 patients revealed only infratentorial lesions. Focal symmetric lesions of the tegmental brain stem were always present. The lesions appeared hyperintense on T2-weighted images and hypointense on IR images. We found a strong association (P < .0001) between oral motor dysfunction and infratentorial lesions on MR imaging. Oral motor dysfunction was associated with brain stem tegmental lesions in posthypoxic-ischemic infants. The MR imaging examination should be directed to the brain stem, especially when a condition of prolonged gavage feeding is necessary in infants.
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Tronco Encefálico/patología , Trastornos de Deglución/patología , Hipoxia-Isquemia Encefálica/patología , Imagen por Resonancia Magnética , Tegmento Mesencefálico/patología , Tronco Encefálico/fisiopatología , Trastornos de Deglución/fisiopatología , Femenino , Humanos , Hipoxia-Isquemia Encefálica/fisiopatología , Recién Nacido , Enfermedades del Recién Nacido/patología , Enfermedades del Recién Nacido/fisiopatología , Masculino , Neuronas Motoras/fisiología , Boca/fisiopatología , Estudios RetrospectivosRESUMEN
Heterotopic neuroglial tissue is a rare lesion, occurring more frequently in the nasal cavities. Other rare locations are the orbit, the scalp, the palate, the pharynx, the parapharyngeal space and the lungs. They are usually detected occasionally because they are often asymptomatic, but sometimes they might present with dyspnoea, feeding difficulty, snorting and nasal flaring. Respiratory symptoms occur when heterotopic neuroglial tissue is located in the parapharyngeal space. We report a case of an infant affected by Pierre Robin sequence (PRS) who was admitted to our Institution for a worsening respiratory distress that was not explainable only by PRS.
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Coristoma/diagnóstico , Neuroglía/patología , Faringe/patología , Síndrome de Pierre Robin/diagnóstico , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Coristoma/complicaciones , Coristoma/cirugía , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Faringe/cirugía , Síndrome de Pierre Robin/complicaciones , Síndrome de Dificultad Respiratoria del Recién Nacido/etiología , Síndrome de Dificultad Respiratoria del Recién Nacido/cirugíaRESUMEN
Coronary flow velocity reserve is obtained by manual tracings of transthoracic coronary Doppler flow velocity profiles as the ratio of stress versus baseline diastolic peak velocities. This approach introduces subjectivity in the measurements and limits the information which could be exploited from the Doppler velocity profile. Accordingly, our goals were to develop a technique for nearly automated detection of Doppler coronary flow velocity profile, and automatically compute both conventional and additional amplitude, derivative and temporal parameters, and validate it with manual tracings. A total of 100 patients (17 normals, 15 patients with severe coronary stenosis, 41 with connective tissue disease and 27 with diabetes mellitus) were studied. Linear correlation and Bland-Altman analyses showed that the proposed method was highly accurate and repeatable compared to the manual measurements. Comparison between groups evidenced significant differences in some of the automated parameters, thus representing potentially additional indices useful for the noninvasive diagnosis of microcirculatory or coronary artery disease.
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Circulación Coronaria/fisiología , Ecocardiografía Doppler/métodos , Algoritmos , Velocidad del Flujo Sanguíneo/fisiología , Enfermedades del Tejido Conjuntivo/fisiopatología , Estenosis Coronaria/fisiopatología , Diabetes Mellitus/fisiopatología , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Masculino , Persona de Mediana Edad , Variaciones Dependientes del Observador , Estudios RetrospectivosAsunto(s)
Antígenos HLA-C/genética , Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Población Blanca , Adulto , Alelos , Secuencia de Bases , Trasplante de Médula Ósea , Exones , Humanos , Leucemia Mielógena Crónica BCR-ABL Positiva/inmunología , Masculino , Datos de Secuencia Molecular , Análisis de Secuencia de ADNRESUMEN
Coronary flow velocity reserve (CFVR) is conventionally obtained by manual tracings of Doppler profiles, as ratio of stress vs baseline diastolic peak velocity. When <1.9, this parameter evidences reduced coronary flow and possible microcirculatory disease. Our goals were: 1) to develop a novel technique for semi-automated detection of Doppler flow velocity profile, allowing the automated computation of CFVR and other parameters; 2) to validate this technique in comparison with conventional measurements obtained by manual tracing; 3) to test for differences between normal (N) subjects and patients with rheumatoid arthritis (RA). Linear correlation and Bland-Altman analyses showed that the proposed method was highly accurate and repeatable compared to the manual measurements. Comparison between N and RA groups evidenced significant differences in some of the automated parameters.
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Artritis Reumatoide/diagnóstico por imagen , Inteligencia Artificial , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Vasos Coronarios/diagnóstico por imagen , Ecocardiografía/métodos , Interpretación de Imagen Asistida por Computador/métodos , Reconocimiento de Normas Patrones Automatizadas/métodos , Algoritmos , Femenino , Humanos , Aumento de la Imagen/métodos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadRESUMEN
We report the identification of an HLA-DRB1*01 nucleotide sequence variant in three members of a Caucasian Italian family by using sequence-based typing. The nucleotide sequence of exon 2 observed in the new allele is identical to that of HLA-DRB1*010201 except in position 189 (codon 34) where the adenine of the consensus was replaced by a guanine and it was designated officially as HLA-DRB1*010203* by the WHO Nomenclature Committee.
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Antígenos HLA-DR/genética , Alelos , Codón , Cartilla de ADN , Cadenas HLA-DRB1 , Humanos , Mutación Puntual , Análisis de Secuencia de ADNRESUMEN
Coronary flow reserve (CFVR) is conventionally obtained by manual tracings of Doppler profiles, as ratio of control vs stress diastolic peak velocity. This parameter could help in discriminating between normal (N) and microcirculatory pathologic (P) subjects, even the clinical meaning of 1.9
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At present, 128 HLA-Cw alleles have been described. Twenty-four of 128 display critical polymorphisms in contributing to allele identification outside exons 2 and 3. As a matter of fact, complete resolution of Cw*030201, Cw*030202, Cw*0409N, Cw*0501, Cw*0503, Cw*070101, Cw*070102, Cw*070401, Cw*0706, Cw*0711, Cw*0718, Cw*120201, Cw*120202, Cw*150501, Cw*150502, Cw*1701, Cw*1702, Cw*1703, Cw*1801 and Cw*1802 alleles requires nucleotide analysis of exons 1, 4, 5, 6 and 7. Moreover, some alleles (Cw*04010101, Cw*04010102, Cw*07020101 and Cw*07020102) showing nucleotide differences outside the coding regions of HLA-C gene (intron 2) have been reported. High resolution sequence based typing (SBT) developed in this study involves two DNA amplifications and 12 direct sequencing reactions and allows the analysis of HLA-C polymorphisms from exon 1 through exon 8, including intron 2. This typing procedure identifies all 128 Cw alleles described so far. Nevertheless, a number of ambiguous heterozygous typing results may be expected, this being the major drawback of SBT methods. A total of 201 samples were HLA-C typed using SBT strategy here described. The sequence of exons 6, 7 and 8 of HLA-Cw*070102 allele was elucidated. A novel HLA-Cw*07 allele, Cw*0718, was identified in two samples. Cw*0718 differs from the Cw*070101 allele by a unique nucleotide position within exon 6, resulting in an amino acid substitution at codon 324 (Ala-->Val) in the cytoplasmic region of the molecule.
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Antígenos HLA-C/genética , Análisis de Secuencia de ADN , Humanos , Datos de Secuencia Molecular , Reacción en Cadena de la PolimerasaRESUMEN
The hypothesis was tested that amino acid substitutions in specific positions within human leukocyte antigen class I heavy chain would have different impacts on transplant-related mortality (TRM) in patients receiving transplanted bone marrow from unrelated donors. One hundred patients and their unrelated donors were typed by sequence-based typing for the human leukocyte antigen (HLA)-A, -B, and -C loci. All pairs were matched for DRB1, DRB3, DRB4, DRB5, DQA1, and DQB1 loci. Forty pairs were also matched at class I, and 60 pairs had one or more mismatches at class I loci. It was found that substitutions at positions 116 and 114 of class I heavy chain significantly increased the risk for TRM in univariate and bivariate Cox analyses. Conversely, no association between number of multiple mismatches or number of amino acid substitutions and TRM was seen when positions 116 and 114 were adjusted for. Variables predictive of TRM in multivariate Cox analysis were number of cells infused, diagnosis (chronic myeloid leukemia [CML] or non-CML), and amino acid substitution at position 116 or 152. The only variable predictive of severe acute graft-versus-host disease (GVHD) in multivariate Cox analysis was substitution at position 116. Actuarial risk for acute GVHD grade III-IV, TRM, and relapse in pairs with substitutions at position 116 (n = 37) compared to other pairs (n = 63) was, respectively, 36% versus 14% (P =.01), 59% versus 28% (P =.001), and 25% versus 31% (P =.4). In conclusion these data suggest that substitutions at position 116 of class I heavy chain increase the risk for acute GVHD and TRM in patients who receive transplanted bone marrow from unrelated donors.
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Sustitución de Aminoácidos , Trasplante de Médula Ósea , Codón/genética , Genes MHC Clase I , Histocompatibilidad , Trasplante Homólogo , Adulto , Alelos , Trasplante de Médula Ósea/mortalidad , Supervivencia sin Enfermedad , Exones/genética , Frecuencia de los Genes , Enfermedad Injerto contra Huésped/etiología , Enfermedad Injerto contra Huésped/genética , Enfermedad Injerto contra Huésped/mortalidad , Prueba de Histocompatibilidad , Humanos , Tablas de Vida , Polimorfismo Genético , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Factores de Riesgo , Análisis de Supervivencia , Donantes de Tejidos , Trasplante Homólogo/mortalidad , Resultado del TratamientoRESUMEN
BACKGROUND: The early and accurate noninvasive identification of postinfarction patients at risk of sudden death and sustained ventricular tachycardia (arrhythmic events) still remains an unsolved problem. The aim of the present study was to identify the combination of clinical and laboratory noninvasive variables, easy to obtain in most patients, that best predicts the occurrence of arrhythmic events after an acute myocardial infarction. METHODS: Four hundred and four consecutive patients with acute myocardial infarction were enrolled and followed for a median period of 21.4 months. In each patient, 61 clinical and laboratory noninvasive variables were collected before hospital discharge and used for the prediction of arrhythmic events using an artificial neural network. RESULTS: During follow-up, 13 (3.2%) patients died suddenly and 11(2.5%) had sustained ventricular tachycardia. The neural network showed that the combination best predicting arrhythmic events included: left ventricular failure during coronary care stay, ventricular dyskinesis, late potentials, number of ventricular premature depolarizations/hour, nonsustained ventricular tachycardia, left ventricular ejection fraction, bundle branch block and digoxin therapy at discharge. The neural network algorithm allowed identification of a small high-risk patient subgroup (12% of the study population) with an arrhythmic event rate of 46%. The sensitivity and specificity of the test were 96 and 93% respectively. CONCLUSIONS: These results suggest that, in postinfarction patients, it is possible to predict early and accurately arrhythmic events by noninvasive variables easily obtainable in most patients. Patients identified as being at risk are candidates for prophylactic antiarrhythmic therapy.
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Algoritmos , Muerte Súbita Cardíaca , Infarto del Miocardio/complicaciones , Redes Neurales de la Computación , Taquicardia Ventricular/diagnóstico , Anciano , Muerte Súbita Cardíaca/etiología , Electrocardiografía Ambulatoria , Femenino , Humanos , Masculino , Persona de Mediana Edad , Procesamiento de Señales Asistido por Computador , Análisis de Supervivencia , Taquicardia Ventricular/etiología , Taquicardia Ventricular/mortalidadRESUMEN
The HLA-DRB3/B4/B5 sequence-based typing method developed in this study in combination with PCR-SSP, enabled us to identify a new DRB3*02 allele, that was named as DRB3*0209 (GenBank accession number AF148518). This name has been officially assigned by the WHO Nomenclature Committee in May 1999. The new allele differs from DRB3*0207 by one substitution in codon 51 from AGG to ACG and another in codon 60 from TAC to TCC, resulting in aminoacid changes from Arg-->Thr (codon 51) and from Tyr-->Ser (codon 60). The DRB3*0209 allele was discovered in two related North Italian families. The fact that it was present in an hemizygous situation in three members of the paternal family and in one member of the secondary related family enabled us to isolate and sequence the new DRB3 allele without cloning, to identify its association with the DRB1 locus, and to generate an Epstein-Barr virus (EBV)-transformed cell line, now present in our ECBR (European Collection for Biomedical Research) Cell Line Bank.
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Alelos , Antígenos HLA-DR/genética , Prueba de Histocompatibilidad/métodos , Secuencia de Bases , Femenino , Cadenas HLA-DRB3 , Haplotipos , Humanos , Masculino , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , Alineación de SecuenciaRESUMEN
Hemoperfusion has been used in the treatment of mushroom poisoning for many years. The aim of this study was to study the efficacy of charcoal plasmaperfusion (CPP) and continuous renal replacement therapy (CRRT) in 2 patients severely poisoned by the amanita mushroom. Both patients arrived at the ICU from another hospital with a diagnosis of amanita phalloides mushroom poisoning. The patients were precociously treated with CRRT for 20 h and CPP for 3 h every day. The treatments were effected for 3 and 5 days, respectively. Both patients recovered completely and were discharged asyntomatic after 7 and 10 days.
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Carbón Orgánico , Intoxicación por Setas/terapia , Plasmaféresis , Terapia de Reemplazo Renal , Desintoxicación por Sorción , Anciano , Amanita , Cuidados Críticos , Femenino , Estudios de Seguimiento , Hemofiltración , Hemoperfusión , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Althought it is a valuable tool for the identification of HLA alleles, sequence-based typing (SBT) presents difficulties when used to determine HLA-DQA1 and -DQB1 alleles. Specifically, some HLA-DQA1 alleles have a three-base deletion at codon 56 of exon 2 that interferes with the sequencing read. Moreover, the frequently used primers for HLA-DQB1 may co-amplify the HLA-DQB2 pseudogene. To overcome these problems, we amplified DQA1 exon 2 using five group-specific polymerase chain reactions (PCRs) which allowed separation of deleted from non-deleted DQA1 alleles. DQB1 exon 2 was amplified using two group-specific amplifications. To increase typing resolution, we also analyzed DQA1 exons 1, 3 and 4 and DQB1 exon 3 by PCR using sequence-specific primers (PCR-SSP) or SBT analysis. Using this method we found some important associations between DQA1 and DQB1 alleles: DQA1*05011 and DQB1*0201, DQA1*0505 and DQB1*03011, DQA1*01021 and DQB1*06, DQA1*01022 and DQB1*0502.
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Alelos , Antígenos HLA-DQ/genética , Antígenos HLA-DQ/clasificación , Cadenas alfa de HLA-DQ , Cadenas beta de HLA-DQ , Humanos , Análisis de Secuencia/métodosRESUMEN
Bone marrow transplant (BMT) relies on the engraftment of donor hemopoietic precursors in the host marrow space. Colony forming units-fibroblasts (CFU-f), the precursor compartment for the osteogenic lineage, are essential to hemopoietic stem cell survival, proliferation and differentiation. We have studied CFU-f in donors (aged 5 months to 62 years) and in patients who had received allogeneic BMT (aged 2 months to 63 years). In donor marrows we found an inverse correlation between CFU-f frequency and age. In BMT recipients CFU-f frequencies were reduced by 60%-90% (p < 0.05) and the numbers did not recover up to 12 years after transplant. Stromal reconstitution to normal levels was found only in patients < 5 years old. In all patients studied CFU-f post-BMT were of host origin. Patients with low CFU-f levels displayed also a decreased bone mineral density (p < 0.05) and significantly reduced levels of long-term culture-initiating cells (LTC-IC) (p < 0.05). Our study demonstrates that the marrow stromal microenvironment is seriously and irreversibly damaged after BMT. Donor cells do not contribute to reconstitute the marrow microenvironment, whose residual CFU-fs remain of host origin.
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Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Células de la Médula Ósea/patología , Trasplante de Médula Ósea/patología , Ciclofosfamida/efectos adversos , Hematopoyesis , Traumatismos por Radiación/patología , Células del Estroma/patología , Tiotepa/efectos adversos , Acondicionamiento Pretrasplante/efectos adversos , Irradiación Corporal Total/efectos adversos , Adolescente , Adulto , Factores de Edad , Protocolos de Quimioterapia Combinada Antineoplásica/farmacología , Densidad Ósea/efectos de la radiación , Células de la Médula Ósea/efectos de los fármacos , Células de la Médula Ósea/efectos de la radiación , Remodelación Ósea/efectos de la radiación , Niño , Preescolar , Ensayo de Unidades Formadoras de Colonias , Ciclofosfamida/administración & dosificación , Femenino , Estudios de Seguimiento , Enfermedades Genéticas Congénitas/terapia , Neoplasias Hematológicas/terapia , Humanos , Hibridación Fluorescente in Situ , Lactante , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Células del Estroma/efectos de los fármacos , Células del Estroma/efectos de la radiación , Tiotepa/administración & dosificación , Donantes de Tejidos , Trasplante Homólogo , Resultado del TratamientoRESUMEN
Recent investigations have shown that malignant transformation may down-regulate the expression of class I HLA molecules, beta2-microglobulin (beta2m) and members of the antigen-processing machinery. In the present study, we HLA-genotyped and identified at a biochemical level the three (HLA-A25, -B8, -Cw7) class I alleles expressed by the previously described [D'Urso CM et al (1992) J Clin Invest 87: 284-292] beta2m-defective human melanoma FO-1 cell line and tested their ability to interact with calnexin, calreticulin and the TAP (transporter associated with antigen processing) complex. All these alleles were found to bind calnexin, but not calreticulin or the poorly expressed TAP complex, both in parental and beta2m-transfected FO-1 cells, demonstrating a complex defect of class I expression in FO-1 cells. In these conditions, Cw7 heavy chains interacted with calnexin more strongly than A25 and B8, and preferentially accumulated in the endoplasmic reticulum, in both a calnexin-associated and a calnexin-free form. In addition, they could be transported to the cell surface at low levels even in the absence of beta2m, without undergoing terminal glycosylation. These results establish a parallel between HLA-C and the murine Db and Ld molecules which have been found to be surface expressed and functional in beta2m-defective cells. They also demonstrate distinctive features of HLA-C molecules. We propose that the accumulation of several assembly intermediates of HLA-C might favour the binding of peptide antigens not readily bound by HLA-A and -B molecules in neoplastic cells with suboptimal class I expression.
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Antígenos HLA-C/biosíntesis , Antígenos de Histocompatibilidad Clase I/biosíntesis , Melanoma/genética , Melanoma/metabolismo , Alelos , Animales , Proteínas de Unión al Calcio/metabolismo , Calnexina , Calreticulina , Citometría de Flujo , Genotipo , Antígenos HLA-A/biosíntesis , Antígenos HLA-A/genética , Antígenos HLA-B/biosíntesis , Antígenos HLA-B/genética , Antígenos HLA-C/genética , Antígenos de Histocompatibilidad Clase I/genética , Humanos , Ratones , Conformación Proteica , Ribonucleoproteínas/metabolismo , Transfección , Células Tumorales Cultivadas , Microglobulina beta-2/genéticaRESUMEN
An overview of the basic knowledge necessary to understand the procedure of Magnetic Resonance Spectroscopy of the myocardium and its most significant applications in the study of ischemic heart disease, is presented, with reference to the personal experience. The chemical shift phenomenon, the main techniques of spectroscopic localization and the general aspects of myocardial 31P and 1H Magnetic Resonance Spectroscopy, including proton decoupling and magnetization transfer, are illustrated. Postprocessing techniques before and after Fourier transform are mentioned. 31P Magnetic Resonance Spectroscopy allows the noninvasive assessment of the metabolism of high energy phosphates, PCr/ATP ratio in particular, in the in vivo myocardial tissue with significant applications in the diagnostic approach to ischemic patients with the support of provocative tests (dobutamine). 1H Magnetic Resonance Spectroscopy allows similar evaluations based on the peak of total creatinine.