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Artificial intelligence, particularly the growth of neural network research and development, has become an invaluable tool for data analysis, offering unrivalled solutions for image generation, natural language processing, and personalised suggestions. In the meantime, biomedicine has been presented as one of the pressing challenges of the 21st century. The inversion of the age pyramid, the increase in longevity, and the negative environment due to pollution and bad habits of the population have led to a necessity of research in the methodologies that can help to mitigate and fight against these changes. The combination of both fields has already achieved remarkable results in drug discovery, cancer prediction or gene activation. However, challenges such as data labelling, architecture improvements, interpretability of the models and translational implementation of the proposals still remain. In haematology, conventional protocols follow a stepwise approach that includes several tests and doctor-patient interactions to make a diagnosis. This procedure results in significant costs and workload for hospitals. In this paper, we present an artificial intelligence model based on neural networks to support practitioners in the identification of different haematological diseases using only rutinary and inexpensive blood count tests. In particular, we present both binary and multiclass classification of haematological diseases using a specialised neural network architecture where data is studied and combined along it, taking into account the clinical knowledge of the problem, obtaining results up to 96% accuracy for the binary classification experiment. Furthermore, we compare this method against traditional machine learning algorithms such as gradient boosting decision trees and transformers for tabular data. The use of these machine learning techniques could reduce the cost and decision time and improve the quality of life for both specialists and patients while producing more precise diagnoses.
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The current study aimed to analyze the effects of physical conditioning inclusion on apnea performance after a 22-week structured apnea training program. Twenty-nine male breath-hold divers participated and were allocated into: (1) cross-training in apnea and physical activity (CT; n = 10); (2) apnea training only (AT; n = 10); and control group (CG; n = 9). Measures were static apnea (STA), dynamic with fins (DYN) and dynamic no fins (DNF) performance, body composition, hemoglobin, vital capacity (VC), maximal aerobic capacity (VO2max), resting metabolic rate, oxygen saturation, and pulse during a static apnea in dry conditions at baseline and after the intervention. Total performance, referred as POINTS (constructed from the variables STA, DNF and DYN) was used as a global performance variable on apnea indoor diving. + 30, +26 vs. + 4 average POINTS of difference after-before training for CT, AT and CG respectively were found. After a discriminant analysis, CT appears to be the most appropriate for DNF performance. The post-hoc analysis determined that the CT was the only group in which the difference of means was significant before and after training for the VC (p < 0.01) and VO2max (p < 0.05) variables. Inclusion of physical activity in apnea training increased VC and VO2max in breath hold divers; divers who followed a mixed training, physical training and hypoxic training, achieved increased DNF performance.
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Contencion de la Respiración , Buceo/fisiología , Ejercicio Físico/fisiología , Acondicionamiento Físico Humano/métodos , Adulto , Índice de Masa Corporal , Frecuencia Cardíaca , Hematócrito , Hemoglobinas/metabolismo , Humanos , Masculino , Consumo de Oxígeno/fisiología , Capacidad VitalRESUMEN
BACKGROUND: There are many different techniques for reducing acute anterior dislocations of the shoulder, and their use depends on surgeon preference. The objective of this study was to compare the pain experienced by a patient performing a self-reduction technique with the pain felt during a reduction performed by a trained physician. METHODS: The study was carried out at the emergency department of a tertiary referral center. Patients between 18 and 60 years of age with an acute anterior shoulder dislocation were randomly allocated into 2 groups. In 1 group the emergency doctor actively guided the reduction process with the Spaso technique (Sp group), and in the other group the patient used the Boss-Holzach-Matter (also known as Davos or Aronen) self-reduction technique (BHM group). The pain experienced by the patient during the reduction was recorded by means of a visual analogue scale (VAS) ranging from 0 to 10. Other recorded data included demographic characteristics, reduction time, and success rate. RESULTS: Of 378 patients assessed for eligibility from May 2015 until February 2017, 197 did not meet the inclusion criteria, 58 met exclusion criteria, 22 declined to participate, and 41 withdrew before randomization. Sixty acute anterior shoulder dislocations were randomized into the Sp group (n = 30) or the BHM group (n = 30). The BHM group experienced significantly less pain during reduction than the Sp group (p = 0.047), with mean pain scores of 3.57 (standard deviation [SD] = 2.1]) and 5.26 (SD = 2.9), respectively. No significant difference between groups was found with respect to reduction time (105 seconds [range, 10 to 660 seconds] in the Sp group and 90 seconds [range, 5 to 600 seconds] in the BHM group; p = 0.6) or success rate (67% and 77%, respectively; p = 0.39). CONCLUSIONS: The self-reduction technique results in less pain than, and is as efficient in achieving reduction of anterior shoulder dislocations as, the Spaso technique. These findings favor the use of the self-assisted method as an effective first-line treatment for shoulder dislocations seen in the emergency department as well as its use by patients with recurrent dislocation. LEVEL OF EVIDENCE: Therapeutic Level I. See Instructions for Authors for a complete description of levels of evidence.
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Manipulación Ortopédica/métodos , Dolor Asociado a Procedimientos Médicos/epidemiología , Educación del Paciente como Asunto/métodos , Automanejo/métodos , Luxación del Hombro/terapia , Adolescente , Adulto , Servicio de Urgencia en Hospital , Femenino , Humanos , Masculino , Manipulación Ortopédica/efectos adversos , Persona de Mediana Edad , Dimensión del Dolor , Dolor Asociado a Procedimientos Médicos/etiología , Articulación del Hombro/fisiopatología , Método Simple Ciego , Resultado del Tratamiento , Adulto JovenRESUMEN
Intestinal parasites are very common infections worldwide and they are responsible for significant public health problems. The World Health Organization estimates that one-third of the world population is infected and some epidemiologic factors related to the transmission have been identified. The purpose of this investigation was to study the prevalence of intestinal parasitic infections in people living in the rural community of "El Canal", Consolación del Sur municipality and the association with some epidemiologic risk factors. All participants were subjected to three methods of parasitological examinations on the stool samples and by immunodiagnostic tests which allow the detection of excretory-secretory antigens of adults with Fasciola hepatica. The global prevalence rate of intestinal parasitic infections (IPIs) was 18%, and 16.7% for protozoan infections, while the rate of helminth infection was lower (5.3%) in the population studied. The univariate analysis identified three factors associated with intestinal pathogenic protozoan infections which include livestock work, drinking water from well\river and eating unwashed fruits\vegetables. The multivariate analysis using introduction test logistic regression ratified the association of these risk factors. Contrary to what have been published in the majority of Cuban studies carried out in rural places, a higher prevalence of protozoan than helminth infection was found. This discrepancy may be explained because the majority of the workers in this rural community were stock-breeders and they are not involved in other agricultural work. The identification of risk factors is important in order to design appropriate strategies for control of IPIs in communities.
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Induced bulk orientation of nematic liquid crystal in contact with micron-scale patterned surfaces is investigated using the Landau-de Gennes theory by means of three-dimensional simulations. The effect of the size and spacing of square cross-sectional well and post patterns is investigated and shown to influence the orientation of the liquid crystal bulk, far removed from the surface. Additionally, the effective anchoring strength of the induced alignment is estimated using a modified version of the torque balance method. Both azimuthal and zenithal multistability are shown to exist within unique ranges of feature sizes.
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The consumption of the carrion of a tapiti by a reintroduced female Dasyprocta leporina was observed in the wild. Herein, besides describing this event, we reviewed other evidence of vertebrate consumption by agoutis. Most of the studies describing this behaviour have been carried out in captivity. The preyed animals included birds and small rodents, which were sometimes killed by agoutis. This pattern suggests that this is not an anomalous behaviour for the genus, reflecting its omnivorous habits. This behaviour can be a physiologically sound feeding strategy, so new studies should focus on the temporal variation in the consumption of this resource, possibly related to food scarcity periods or to reproductive seasons, when the need for high-quality food tends to increase.
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Dasyproctidae/fisiología , Conducta Alimentaria/fisiología , Carne , Animales , Dasyproctidae/clasificación , Femenino , ConejosRESUMEN
INTRODUCTION: The study of a hernia sac rarely provides the evidence of a primary or metastatic malignant epithelial tumor. METHODS: We have reviewed our institutional experience with malignant epithelial tumors found in a hernia sac with the purpose of evaluating cases present/manifesting in the sac, gross appearance, histologic type, primary tumor sites, staging, and patient outcome. RESULTS: A total of 8,435 adult patients underwent inguinal, femoral, umbilical or abdominal hernia repair in our hospitals. Twelve (0.14 %) patients had a malignant epithelial tumor in the hernia sac. Only one of these tumors was primary and the rest metastatic. Six out of twelve tumors (50.0 %), all of them metastatic, were discovered after hernia repair (0.07 %). The mean age of the 12 patients was 68.7 ± 15.2 years (range 43-90 years). Eight patients were male (66.7 %). Six tumors were located in inguinal (50.0 %), five in umbilical (41.7 %), and one in abdominal (8.3 %) hernia sacs. Gastrointestinal cases comprised 50.0 % and gynaecologic cases 25 % of tumors. In three cases (25.0 %) the hernia sac showed no gross abnormalities. All tumors were found in an advanced stage of development and ten patients died. Mean survival of these patients after hernia repair was 275.1 ± 376.4 days (range 6-1,095 days; median 68 days). CONCLUSIONS: Gravity, inflammatory oncotaxis, and chemotactic agents are probably operative phenomena in the development of metastatic lesions in hernia sacs. Routine microscopic evaluation of hernia sacs is not justified by the high cost. It should be reserved for selected cases based on the gross findings. Since subtle lesions may be overlooked on gross examination, particular caution should be taken with the examination of hernia sacs from older patients.
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Carcinoma , Hernia , Herniorrafia/métodos , Adulto , Anciano , Carcinoma/diagnóstico , Carcinoma/mortalidad , Carcinoma/patología , Carcinoma/cirugía , Femenino , Hernia/clasificación , Hernia/complicaciones , Humanos , Cuidados Intraoperatorios/métodos , Masculino , Persona de Mediana Edad , Invasividad Neoplásica , Metástasis de la Neoplasia , Estadificación de Neoplasias , Estudios Retrospectivos , España , Análisis de SupervivenciaRESUMEN
Se describe un caso de fractura abierta de tibia grado iiia con gran conminución y pérdida distal de stock óseo ( cm) con total afectación de la superficie articular tibial y gran inestabilidad de la articulación peroneo-astragalina. El tratamiento realizado consintió en practicar una exhaustiva limpieza, colocándose un enclavado fresado retrógrado calcáneo-astrágalo-tibial con bloqueos proximales y distales, además de una aguja de Kirschner peroneo-astragalina. Se consiguió el cierre primario de la piel. A las 3 semanas se procedió al aporte de injerto óseo autólogo de cresta ilíaca rellenando el defecto óseo, a la reimpactación del clavo endomedular que estaba protuido distalmente y a la dinamización distal. Se consiguió la consolidación del defecto óseo en 16 semanas. Actualmente, el paciente deambula sin dolor con la artrodesis tibio-astragalina consolidada (AU)
We describe a case of a severely comminuted type iiia open tibial fracture, with distal loss of bone stock (7 cm), total involvement of the tibial joint surface, and severe instability of the fibular-talar joint. The treatment performed consisted of thorough cleansing, placing a retrograde reamed calcaneal-talar-tibial nail with proximal and distal blockage, as well as a fibular-talar Kirschner nail. Primary closure of the skin was achieved. After 3 weeks, an autologous iliac crest bone graft was performed to fill the bone defect, and the endomedullary nail, which had protruded distally was reimpacted and dynamized distally. The bone defect was eventually consolidated after 16 weeks. Currently, the patient can walk without pain the tibial-astragal arthrodesis is consolidated (AU)
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Humanos , Fijación Interna de Fracturas/métodos , Fracturas de la Tibia/cirugía , Clavos Ortopédicos , Procedimientos Ortopédicos/métodosRESUMEN
We describe a case of a severely comminuted type iiia open tibial fracture, with distal loss of bone stock (7 cm), total involvement of the tibial joint surface, and severe instability of the fibular-talar joint. The treatment performed consisted of thorough cleansing, placing a retrograde reamed calcaneal-talar-tibial nail with proximal and distal blockage, as well as a fibular-talar Kirschner nail. Primary closure of the skin was achieved. After 3 weeks, an autologous iliac crest bone graft was performed to fill the bone defect, and the endomedullary nail, which had protruded distally was reimpacted and dynamized distally. The bone defect was eventually consolidated after 16 weeks. Currently, the patient can walk without pain the tibial-astragal arthrodesis is consolidated.
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Fijación Intramedular de Fracturas , Ilion/trasplante , Fracturas de la Tibia/cirugía , Humanos , Masculino , Adulto JovenRESUMEN
Nestedness, the pattern in which the species of a species-poor community are a subset of species-rich communities, can provide information regarding species order of extinction, which is vital knowledge for conservation biology. We tested the hypotheses that the nestedness of mammal communities in forest remnants is influenced by sampling effort, mean remnant area, range of remnant areas, matrix type, and presence or absence of forest corridors, and compared the results with multi-taxa reviews. We used 24 published datasets to test this hypothesis and ran simple regressions for each variable. Our results provide evidence that area was the main determinant of nestedness in mammalian communities. We also found a significant effect on the range of areas as measured through area ratio. However we conclude that nestedness is not affected by sample size.
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Mamíferos/clasificación , Mamíferos/embriología , Árboles , Animales , Conservación de los Recursos Naturales , Modelos Biológicos , Densidad de Población , Dinámica Poblacional , Tamaño de la MuestraRESUMEN
Finding exact analytical soliton profile solutions is only possible for certain types of non-linear media. In most cases one must resort to numerical techniques to find the soliton profile. In this work we present numerical calculations of spatial soliton profiles in nematic liquid crystals. The nonlinearity is governed by the optical-field-induced liquid crystal director reorientation, which is described by a system of coupled nonlinear partial differential equations. The soliton profile is found using an iterative scheme whereby the induced waveguide and mode profiles are calculated alternatively until convergence is achieved. In this way it is also possible to find higher order solitons. The results in this work can be used to accurately design all-optical interconnections with soliton beams.
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Algoritmos , Cristales Líquidos/química , Modelos Químicos , Simulación por Computador , Luz , Refractometría , Dispersión de RadiaciónRESUMEN
Haemoglobinopathies are the world's most frequently found monogenic disorders. In the cases with high oxygen affinity, the decrease in the liberation of the oxygen determines a secondary erythrocytosis. In this work, we present 17 unrelated families of Caucasian race and of Spanish origin, with ten variants of haemoglobin or haemoglobinopathies with high oxygen affinity which were diagnosed in our laboratory. Of the ten haemoglobinopathies, in four (the Hb San Diego, the Hb Johnstown, the Hb Malmö and the Hb Columbia-Missouri), the change of amino acid affects zones of the contact alpha(1)beta(2); in two variants (the Hb Strasbourg and the Hb Syracuse), it affects the unions with 2,3-DPG in the central cavity; in the other two (the Hb Badalona and the Hb La Coruña), the cavity of contact with the group haem is affected; in one (Hb Bethesda), it affects the zone of contact alpha(1)beta(1;) and in one (Hb Olympia), the position 20 of the chain in the helix B in the surface of the protein is affected. In all cases, the change of amino acid, though of different form, facilitates that the quaternary structure of the haemoglobin becomes stable in its relaxed configuration so the transfer of oxygen and the P(50) value are decreased. All cases were sent to our laboratory because of shown erythrocytosis. In the majority of them, the diagnosis was done during an analysis of routine or for being relatives of the first ones.
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Enfermedades Hematológicas/genética , Hemoglobinas Anormales/genética , Oxígeno/fisiología , Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Variación Genética/genética , Enfermedades Hematológicas/diagnóstico , Enfermedades Hematológicas/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Mutación/genética , España/epidemiología , Adulto JovenRESUMEN
INTRODUCTION: 25 years ago was first reported in Cuba and in the western hemisphere an emergent disease: eosinophilic meningoencephalitis due to Angiostrongylus cantonensis larvae. AIM: To collect in a summary form the accumulated experience and the findings of the study of this parasitosis during the period in the Western hemisphere. DEVELOPMENT AND CONCLUSIONS: There have been collected the first evidences, the parasitological and malacological findings, the experimental and molecular studies on immunology and neuroimmunology, the clinic-pathological findings in children and adults with the particularities of this diseases in our environment with special emphasis in the never-before scientific findings reported. It has been documented the testimony, the main findings among the malacological studies, the role of the immunoglobulin E and the mechanism involved in the central nervous system, the intrathecal synthesis patterns of immunoglobulins and the clinical elements in children and adults.
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Angiostrongylus cantonensis , Meningoencefalitis/parasitología , Infecciones por Strongylida/epidemiología , Adulto , Angiostrongylus cantonensis/aislamiento & purificación , Angiostrongylus cantonensis/fisiología , Animales , Anticuerpos Antihelmínticos/inmunología , Asia Sudoriental/etnología , Niño , Preescolar , Cuba/epidemiología , Vectores de Enfermedades , Emigrantes e Inmigrantes , Eosinofilia/etiología , Interacciones Huésped-Parásitos , Humanos , Inmunoglobulina E/líquido cefalorraquídeo , Inmunoglobulina E/inmunología , Inmunoglobulina G/líquido cefalorraquídeo , Inmunoglobulina G/inmunología , Lactante , América Latina/epidemiología , Meningoencefalitis/sangre , Meningoencefalitis/epidemiología , Meningoencefalitis/inmunología , Meningoencefalitis/patología , Ratas/parasitología , Caracoles/parasitología , Infecciones por Strongylida/sangre , Infecciones por Strongylida/inmunología , Infecciones por Strongylida/patología , Infecciones por Strongylida/transmisión , Estados Unidos/epidemiologíaRESUMEN
AIM: To disclose whether mutations in the HFE gene inducing liver iron overload are related to the risk of hepatocellular carcinoma (HCC) in otherwise predisposed patients. PATIENTS AND METHODS: One hundred and ninety-six patients (161 males) diagnosed with HCC and 181 healthy controls were included in the study. All subjects were white Spaniards.C282Y and H63D mutations in the HFE gene were identified in leucocyte genomic DNA using a polymerase chain reaction (PCR) and specific restriction enzymes. RESULTS (CASES/CONTROLS): 1. Genotype distribution: a) C282Y mutation: homozygotes 1/0, heterozygotes 12/23, wild type 183/158 (p = 0.07, non significant); b) H63D mutation: homozygotes 9/5, heterozygotes 85/52, wild type 102/124 (0dds ratio 2.00, 95% C.I. 1.29-3.12, p = 0.002. Four cases and 6 controls were carriers of heterozygous mixed genotypes. 2. Allele frequencies: a) C282Y mutation: wild type allele 378/339, mutated allele 14/23 (p = 0.11, non significant); b) H63D mutation: wild type allele 289/300, mutated allele 103/62 (0dds ratio 1.72, 95% C.I. 1.19-2.50, p = 0.004). Age at diagnosis, gender and etiology of the underlying liver disease do not influence these findings. CONCLUSION: The C282Y mutation in the HFE gene is not related to the risk of HCC in non-hemochromatosis patients. The H63D mutation is associated with a higher risk of HCC in cirrhotic patients irrespective of their underlying liver disease.
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Carcinoma Hepatocelular/genética , Antígenos de Histocompatibilidad Clase I/genética , Neoplasias Hepáticas/genética , Proteínas de la Membrana/genética , Mutación , Anciano , Estudios de Casos y Controles , Femenino , Proteína de la Hemocromatosis , Humanos , Masculino , Factores de RiesgoRESUMEN
Los cuadros de necrolisis epidérmica tóxica (NET)-síndrome de Stevens-Johnson (SSJ) se han asociado al consumo de algunos fármacos, en especial a la toma de antiepilépticos como fenitoína. Algunos autores han planteado un incremento en el riesgo de padecer NET/SSJ cuando la fenitoína se asocia con radioterapia craneal. Se presenta el caso de una paciente diagnosticada de adenocarcinoma de mama con metástasis cerebrales en tratamiento con fenitoína que poco después de recibir radioterapia cerebral presenta un cuadro de NET
Toxic epidermal necrolysis (TEN) and Stevens-Johnson syndrome (SJS) have been associated with some drugs, particularly anticonvulsants such as phenytoin. Some authors have pointed out an increased risk of TEN/SJS when phenytoin is associated with whole brain radiotherapy. We report a patient diagnosed with breast adenocarcinoma and brain metastases that was on treatment with phenytoin and, shortly after receiving whole brain radiotherapy, developed toxic epidermal necrolysis
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Femenino , Anciano , Humanos , Síndrome de Stevens-Johnson/etiología , Anticonvulsivantes/efectos adversos , Fenitoína/efectos adversos , Radioterapia/efectos adversos , Síndrome de Stevens-Johnson/tratamiento farmacológico , Resultado del TratamientoRESUMEN
Toxic epidermal necrolysis (TEN) and Stevens-Johnson syndrome (SJS) have been associated with some drugs, particularly anticonvulsants such as phenytoin. Some authors have pointed out an increased risk of TEN/SJS when phenytoin is associated with whole brain radiotherapy. We report a patient diagnosed with breast adenocarcinoma and brain metastases that was on treatment with phenytoin and, shortly after receiving whole brain radiotherapy, developed toxic epidermal necrolysis.
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Adenocarcinoma/tratamiento farmacológico , Anticonvulsivantes/efectos adversos , Irradiación Craneana/efectos adversos , Fenitoína/efectos adversos , Síndrome de Stevens-Johnson/etiología , Adenocarcinoma/radioterapia , Adenocarcinoma/secundario , Adenocarcinoma/cirugía , Anciano , Anticonvulsivantes/administración & dosificación , Anticonvulsivantes/uso terapéutico , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/secundario , Neoplasias de la Mama/cirugía , Terapia Combinada , Dexametasona/administración & dosificación , Dexametasona/uso terapéutico , Quimioterapia Combinada , Epilepsia/etiología , Epilepsia/prevención & control , Femenino , Humanos , Mastectomía Radical , Omeprazol/administración & dosificación , Omeprazol/uso terapéutico , Fenitoína/administración & dosificación , Fenitoína/uso terapéuticoRESUMEN
Objetivo: comprobar si las mutaciones del gen HFE, que puedeninducir sobrecarga hepática de hierro, guardan relación conel riesgo de desarrollar carcinoma hepatocelular (CHC) en sujetospredispuestos a sufrir este tumor.Material y métodos: se han incluido 196 pacientes (161 varones)diagnosticados de CHC. Ninguno estaba diagnosticado dehemocromatosis. El grupo control estaba constituido por 181 sujetossanos. Todos los sujetos eran españoles de raza blanca.Las mutaciones C282Y y H63D del gen HFE se identificaronmediante reacción en cadena de polimerasa (PCR) sobre ADN genómicoleucocitario utilizando enzimas de restricción específicas.Resultados (casos/controles): 1. Distribución genotípica:a) mutación C282Y: 1/0 homocigotos, 12/23 heterocigotos,183/158 normales (p = 0,07, n.s.); y b) mutación H63D: 9/5homocigotos, 85/52 heterocigotos, 102/124 normales (odds ratio2,00, IC95% 1,29-3,12, p = 0,002). Cuatro casos y seis controleseran heterocigotos compuestos. 2. Frecuencias alélicas: a)mutación C282Y: normales 378/339, mutados 14/23 (p =0,11, n.s.); b) mutación H63D: normales 289/300; mutados103/62 (odds ratio 1,72, IC95% 1,19-2,50, p = 0,004). No seobservaron diferencias en relación con el sexo, la edad o la etiología(VHC, VHB, etílica o mixta) de la hepatopatía previa.Conclusiones: la mutación C282Y no guarda relación con elriesgo de desarrollar CHC en sujetos sin hemocromatosis conocida.La posesión de la mutación H63D se asocia con un riesgo aumentadode desarrollar CHC independientemente de la etiologíade la hepatopatía crónica subyacente
Aim: to disclose whether mutations in the HFE gene inducingliver iron overload are related to the risk of hepatocellular carcinoma(HCC) in otherwise predisposed patients.Patients and methods: one hundred and ninety-six patients(161 males) diagnosed with HCC and 181 healthy controls wereincluded in the study. All subjects were white Spaniards.C282Y and H63D mutations in the HFE gene were identifiedin leucocyte genomic DNA using a polymerase chain reaction(PCR) and specific restriction enzymes.Results (cases/controls): 1. Genotype distribution: a)C282Y mutation: homozygotes 1/0, heterozygotes 12/23, wildtype 183/158 (p = 0.07, non significant); b) H63D mutation: homozygotes9/5, heterozygotes 85/52, wild type 102/124 (0ddsratio 2.00, 95% C.I. 1.29-3.12, p = 0.002. Four cases and 6controls were carriers of heterozygous mixed genotypes. 2. Allelefrequencies: a) C282Y mutation: wild type allele 378/339, mutatedallele 14/23 (p = 0.11, non significant); b) H63D mutation:wild type allele 289/300, mutated allele 103/62 (0dds ratio1.72, 95% C.I. 1.19-2.50, p = 0.004). Age at diagnosis, genderand etiology of the underlying liver disease do not influence thesefindings.Conclusion: the C282Y mutation in the HFE gene is not relatedto the risk of HCC in non-hemochromatosis patients. TheH63D mutation is associated with a higher risk of HCC in cirrhoticpatients irrespective of their underlying liver disease
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Humanos , Carcinoma Hepatocelular/genética , Genes MHC Clase I/genética , Neoplasias Hepáticas/genética , Mutación/genética , Predisposición Genética a la Enfermedad , Virus de la Hepatitis B/genética , Hepacivirus/genética , Hemocromatosis/genéticaRESUMEN
Antecedentes; El receptor sérico de transferrina (RsTf) ofrece ventajas para evaluar el estado de hierro celular por no alterarse en situaciones de enfermedad aguda o crónica. Objetivo Establecer valores de referencia para nuestro laboratorio del RsTf en niños sanos, conocer la distribución de esta variable en niños con enfermedad aguda y en niños con déficit de hierro, así como evaluar el rendimiento diagnóstico del RsTf para distinguir anemia ferropénica de anemia infecciosa y de sus parámetros relacionados con la ferritina (F): cociente RsTf/F e índice RsTf-F (RsTf/log ferritina).Pacientes y métodos Análisis descriptivo transversal durante un período de 18 meses en 132 niños entre 6 meses y 16 años de edad que fueron divididos en tres grupos: sanos, con enfermedad aguda y con déficit de hierro, estudiando la distribución del RsTf, y evaluando su rendimiento diagnóstico para diferenciar la anemia ferropénica de la anemia que acompaña a enfermedad aguda. Resultados De los 132 pacientes, 30 se excluyeron por no contar con alguno de los parámetros relevantes de este estudio y 19 fueron apartados por ser portadores de rasgo talasémico. En los 30 niños sanos la media del RsTf fue 1,2 mg/l (desviación estándar [DE], 0,36); mediana 1,02 (rango intercuartílico [RIQ], 0,7-1,7). Los 32 niños con enfermedad aguda, con o sin anemia, mostraron valores de RsTf similares a los de niños sanos (p > 0,05). Los valores del RsTf fueron superiores en niños con déficit de hierro (21 niños; RsTf, M 1,67 mg/l; DE, 0,98) que en niños sanos, aunque sin significación estadística (p 0,08). Los valores más altos del RsTf correspondieron a niños con anemia ferropénica (RsTf, M 2,13 mg/l; DE, 1,14), con una diferencia estadísticamente significativa respecto a los niños sanos (p 0,04) y a los niños con ferropenia latente (niños con déficit de hierro pero sin anemia) (p 0,01).El cociente RsTf/F mostró un rendimiento diagnóstico óptimo para distinguir entre anemia ferropénica y anemia por enfermedad aguda. Con valores de este cociente superiores a 80,7 se puede sospechar como causa de la anemia la ferropenia con un valor global de la prueba de 100 por ciento (intervalo de confianza del 95 por ciento [IC 95 por ciento], 75,91-99,42). Conclusiones El RsTf puede ser de utilidad para la evaluación del estado de hierro intracelular en niños. Sus valores no se modifican durante procesos agudos y en combinación con la ferritina ofrece un rendimiento diagnóstico óptimo para distinguir anemia ferropénica de anemia infecciosa (AU)
Asunto(s)
Masculino , Niño , Adolescente , Preescolar , Femenino , Lactante , Humanos , Clasificación Internacional de Enfermedades , Enfermedad Aguda , Trastornos Mentales , Receptores de Transferrina , Anemia Ferropénica , Enfermedades Transmisibles , Estudios Transversales , Valores de ReferenciaRESUMEN
BACKGROUND: The serum transferrin receptor (TfR) presents certain advantages over other parameters of cellular iron status because it does not vary in acute or chronic diseases. OBJECTIVE: To establish reference ranges of TfR in healthy children for our laboratory, to define the distribution of this variable in children with acute illness and in those with iron deficiency, and to evaluate the diagnostic yield of TfR, the transferrin-receptor/ferritin ratio (TfR/F) and the transferrin-receptor-ferritin index (TfR-F) in distinguishing ferropenic from infectious anemia. PATIENTS AND METHODS: A descriptive, cross-sectional analysis was conducted in 132 children aged from 6 months to 16 years for a period of 18 months. The subjects were classified in three groups: healthy children, children with acute illness, and children with iron deficiency. The distribution of TfR and its diagnostic yield were evaluated. RESULTS: Of the 132 subjects, 30 were excluded because they lacked one or more of the parameters under analysis and 19 were excluded because they showed a thalassemic trait. In the 30 healthy children, the mean TfR concentration was 1.2 mg/l (SD 0.36) and the median was 1.02 (IQR 0.7-1.7). In the 32 children with acute illness, with or without anemia, TfR values were similar to those found in healthy children (p > 0.05). TfR values were higher in children with iron deficiency (21 patients; mean TfR value: 1.67 mg/l SD 0:98) than in healthy children but this difference was not statistically significant (p 0.08). The highest TfR values were found in the group with ferropenic anemia (mean TfR value: 2.13 mg/l SD 1.14) with a statistically significant difference between healthy children (p 0.04) and those with iron deficiency without anemia (p 0.01). The TfR/F ratio showed an optimal diagnostic yield in distinguishing ferropenic from acute disease anemia. If this ratio is higher than 80.7 ferropenia can be suspected as the cause of the anemia with a global value of the test of 100 % (95 % CI: 75.91-99.42). CONCLUSIONS: TfR could be useful in evaluating intracellular iron status in children. Acute disease does not alter TfR values and, in combination with ferritin, TfR offers an optimal diagnostical yield in distinguishing ferropenic from acute illness anemia.