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1.
Crit Rev Oncol Hematol ; 164: 103416, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34237436

RESUMO

Breast cancer is one of the most common oncological pathologies in women worldwide. While its early diagnosis has considerably improved, about 70 % of advanced patients develop bone metastases with a high mortality rate. Several authors demonstrated that primary breast cancer cells prepare their future metastatic niche -known as the pre-metastatic niche- to turn it into an "optimal soil" for colonization. The role of the different cellular components of the bone marrow/bone niche in bone metastasis has been well described. However, studying the changes that occur in this microenvironment before tumor cells arrival has become a novel research field. Therefore, the purpose of this review is to describe the current knowledge about the modulation of the normal bone marrow/bone niche by the primary breast tumor, in particular, highlighting the role of mesenchymal stem/stromal cells in transforming this soil into a pre-metastatic niche for breast cancer cells colonization.


Assuntos
Neoplasias Ósseas , Neoplasias da Mama , Células-Tronco Mesenquimais , Medula Óssea , Mama , Feminino , Humanos , Células Estromais , Microambiente Tumoral
2.
Rev. clín. esp. (Ed. impr.) ; 217(4): 181-187, mayo 2017. tab
Artigo em Espanhol | IBECS | ID: ibc-162405

RESUMO

Objetivo. Identificar la sobreutilización inadecuada (prácticas diagnósticas, terapéuticas o de autocuidados que suponen riesgos mayores que los beneficios potenciales) en pacientes con fibrilación auricular. Método. Estudio basado en técnicas de investigación cualitativa. Mediante la técnica «Metaplan» se identificaron y ordenaron posibles prácticas inadecuadas, inefectivas o ineficientes. Después, mediante una conferencia de consenso se establecieron una serie de medidas de «no hacer» (prácticas relativamente frecuentes, que se aconseja erradicar en función de la evidencia científica o la experiencia clínica). Participaron profesionales de las especialidades de Cardiología, Hematología, Neurología, Medicina Interna, Medicina de Familia y Enfermería. Resultados. Se ha elaborado un catálogo de 19 prácticas de «no hacer» relacionadas con el diagnóstico, el tratamiento o los cuidados del paciente anticoagulado, que resultan inadecuadas, de dudosa efectividad o inefectivas, y 13 creencias o conductas del paciente anticoagulado que pueden ocasionarle daño, son inútiles o ineficientes. Conclusión. El enfoque «no hacer» contribuye a identificar prácticas que suponen más riesgos que beneficios para los pacientes. Parece sensato incluir algoritmos en los sistemas de apoyo a la toma de decisiones clínicas que tengan en cuenta esta información para el diagnóstico, el tratamiento o los cuidados en el hogar. En este último caso, además, se formulan recomendaciones que pueden definir contenidos concretos sobre los que incidir en la educación sanitaria de estos pacientes (AU)


Objective. To identify overuse (diagnostic, therapeutic and self-care practices that represent risks that outweigh the potential benefits) in patients with atrial fibrillation. Method. The study was based on qualitative research techniques. Using the "Metaplan" technique, we identified and ordered potentially inappropriate, ineffective and inefficient practices. By means of a consensus conference, we then established a number of "inadvisable practice" measures (relatively common practices that should be eliminated based on the scientific evidence or clinical experience). Professionals from the specialties of cardiology, haematology, neurology, internal medicine, family medicine and nursing participated in the consensus. Results. We developed a catalogue of 19 «inadvisable practices» related to the diagnosis, treatment and care of anticoagulated patients that were inappropriate, had questionable effectiveness or were ineffective, as well as 13 beliefs or behaviours for anticoagulated patients that could result in injury or were useless or inefficient. Conclusion. The «inadvisable practices» approach helps identify practices that represent greater risks than benefits for patients. It seems appropriate to include algorithms in the clinical decision-making support systems that consider this information for the diagnosis, treatment and for home care. For this last case, recommendations have also been prepared that define specific contents for the healthcare education of these patients (AU)


Assuntos
Humanos , Fibrilação Atrial/tratamento farmacológico , Anticoagulantes/uso terapêutico , Procedimentos Desnecessários , Padrões de Prática Médica , Sobremedicalização/prevenção & controle , Qualidade da Assistência à Saúde/tendências
3.
Rev Clin Esp (Barc) ; 217(4): 181-187, 2017 May.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28363610

RESUMO

OBJECTIVE: To identify overuse (diagnostic, therapeutic and self-care practices that represent risks that outweigh the potential benefits) in patients with atrial fibrillation. METHOD: The study was based on qualitative research techniques. Using the "Metaplan" technique, we identified and ordered potentially inappropriate, ineffective and inefficient practices. By means of a consensus conference, we then established a number of "inadvisable practice" measures (relatively common practices that should be eliminated based on the scientific evidence or clinical experience). Professionals from the specialties of cardiology, haematology, neurology, internal medicine, family medicine and nursing participated in the consensus. RESULTS: We developed a catalogue of 19 "inadvisable practices" related to the diagnosis, treatment and care of anticoagulated patients that were inappropriate, had questionable effectiveness or were ineffective, as well as 13 beliefs or behaviours for anticoagulated patients that could result in injury or were useless or inefficient. CONCLUSION: The "inadvisable practices" approach helps identify practices that represent greater risks than benefits for patients. It seems appropriate to include algorithms in the clinical decision-making support systems that consider this information for the diagnosis, treatment and for home care. For this last case, recommendations have also been prepared that define specific contents for the healthcare education of these patients.

4.
Rev. calid. asist ; 32(2): 66-72, mar.-abr. 2017. graf
Artigo em Espanhol | IBECS | ID: ibc-160711

RESUMO

Objetivo. Evaluar la eficiencia de una intervención mixta, para optimizar el control de la diabetes mediante la implantación de la determinación de la hemoglobina glucosilada (HbA1c) capilar instantánea en Atención Primaria. Material y métodos. Se llevó a cabo un estudio multicéntrico, descriptivo, prospectivo, a lo largo de 3años, en 10 centros de salud de Atención Primaria del Área VII Murcia Este. Se incluyó a 804 pacientes con diabetes mellitus de tipo 2 (DM2), que se repartieron en 4 grupos en función de los valores de HbA1c inicial y de la necesidad o no de intensificar su tratamiento farmacológico. Se controlaron los valores de HbA1c, índice de masa corporal y tensión arterial. Se realizó también una valoración económica de la implantación de un protocolo de determinación de HbA1c capilar instantánea. Resultados. La media inicial fue de 7,4±1,4%, que descendió significativamente hasta un valor medio de 6,9± 1,0% al final del estudio (p<0,001). Además, el 71,4% de los pacientes cumplían los objetivos de control de la diabetes tras 6 meses de tratamiento. El estudio económico demostró que la implantación de este sistema de control de la diabetes supuso un descenso del 24,7% en el gasto en el consumo de tiras de glucosa del Servicio Murciano de Salud en esta área durante el primer año. Conclusiones. La implantación de la HbA1c capilar en Atención Primaria supone una mejora en el control de la diabetes y en la eficiencia en la actuación del personal sanitario. Además, supone una reducción del coste sanitario del paciente con DM2 (AU)


Purpose. The aim of this study was to evaluate the efficiency of a joint intervention that included educational components, self-assessment, and information to optimise diabetes control through the introduction of instant capillary glycosylated haemoglobin (HbA1c) determination in Primary Care. Materials and methods. A multicentre prospective descriptive study was carried out over 3years in 10Primary Care Centres of the Area VII Murcia East. At the end of the study there were 804 patients with type 2 diabetes (DM2). Patients were divided into 4 groups based on initial values of HbA1c, and if changes in their treatment were needed. HbA1c, body mass index, and blood pressure were monitored. A financial assessment was also performed on the impact of the implementation of a protocol to measure instant capillary. Results. A significant reduction was observed in HbA1c values. The initial HbA1c mean value was 7.4±1.4%, which decreased to a final value of 6.9±1.0% (P<.001). At the end of the study, 71.4% of patients included reached diabetic control objectives. In addition, the financial assessment demonstrated that the implementation of this diabetes control system led to a decrease of the 24.7% in spending on glucose strips after the first year of study in Area VII Murcia Health Service. Conclusions. The introduction of capillary HbA1c determination in Primary Care has demonstrated to improve diabetes control and the efficiency of the health personnel. Furthermore, a reduction in the health costs of patients with DM2 was also shown (AU)


Assuntos
Humanos , Masculino , Feminino , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/terapia , Hemoglobinas Glicadas/uso terapêutico , Hemoglobinas Glicadas/administração & dosagem , Glucose/administração & dosagem , Glucose/uso terapêutico , Índice de Massa Corporal , Garantia da Qualidade dos Cuidados de Saúde/métodos , Fitas Reagentes/uso terapêutico , Atenção Primária à Saúde/métodos , Análise Custo-Eficiência , Estudos Prospectivos , Pressão Arterial
5.
Rev Calid Asist ; 32(2): 66-72, 2017.
Artigo em Espanhol | MEDLINE | ID: mdl-27836420

RESUMO

PURPOSE: The aim of this study was to evaluate the efficiency of a joint intervention that included educational components, self-assessment, and information to optimise diabetes control through the introduction of instant capillary glycosylated haemoglobin (HbA1c) determination in Primary Care. MATERIALS AND METHODS: A multicentre prospective descriptive study was carried out over 3years in 10Primary Care Centres of the Area VII Murcia East. At the end of the study there were 804 patients with type 2 diabetes (DM2). Patients were divided into 4 groups based on initial values of HbA1c, and if changes in their treatment were needed. HbA1c, body mass index, and blood pressure were monitored. A financial assessment was also performed on the impact of the implementation of a protocol to measure instant capillary RESULTS: A significant reduction was observed in HbA1c values. The initial HbA1c mean value was 7.4±1.4%, which decreased to a final value of 6.9±1.0% (P<.001). At the end of the study, 71.4% of patients included reached diabetic control objectives. In addition, the financial assessment demonstrated that the implementation of this diabetes control system led to a decrease of the 24.7% in spending on glucose strips after the first year of study in Area VII Murcia Health Service. CONCLUSIONS: The introduction of capillary HbA1c determination in Primary Care has demonstrated to improve diabetes control and the efficiency of the health personnel. Furthermore, a reduction in the health costs of patients with DM2 was also shown.


Assuntos
Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/terapia , Hemoglobinas Glicadas/análise , Idoso , Capilares , Feminino , Humanos , Masculino , Atenção Primária à Saúde , Estudos Prospectivos
6.
Dis Aquat Organ ; 120(3): 231-40, 2016 08 09.
Artigo em Inglês | MEDLINE | ID: mdl-27503919

RESUMO

This is the first report of ostreid herpesvirus 1 microvariant (OsHV-1 µVar) infecting natural oyster beds located in Huelva (SW Spain). The virus was detected in 3 oyster species present in the intertidal zone: Crassostrea gigas (Thunberg, 1793), C. angulata (Lamarck, 1819) and, for the first time, in Ostrea stentina Payraudeau, 1826. Oysters were identified by a specific polymerase chain reaction (PCR) and posterior restriction fragment length polymorphism (RFLP) analysis based on cytochrome oxidase I (COI) mitochondrial DNA. Results confirmed that C. angulata still remains the dominant oyster population in SW Spain despite the introduction of C. gigas for cultivation in the late 1970s, and its subsequent naturalization. C. angulata shows a higher haplotype diversity than C. gigas. OsHV-1 virus was detected by PCR with C2/C6 pair primers. Posterior RFLP analyses with the restriction enzyme MfeI were done in order to reveal the OsHV-1 µVar. Detections were confirmed by DNA sequencing, and infections were evidenced by in situ hybridization in C. gigas, C. angulata and O. stentina samples. The prevalence was similar among the 3 oyster species but varied between sampling locations, being higher in areas with greater harvesting activities. OsHV-1 µVar accounted for 93% of all OsHV-1 detected.


Assuntos
Crassostrea/virologia , Herpesviridae/isolamento & purificação , Animais , Haplótipos , Herpesviridae/genética , Interações Hospedeiro-Patógeno , Espanha , Especificidade da Espécie
7.
Rev. Esp. Cir. Ortop. Traumatol. (Ed. Impr.) ; 60(1): 81-85, ene.-feb. 2016. ilus
Artigo em Espanhol | IBECS | ID: ibc-148106

RESUMO

El síndrome de Alagille es una condición genética infrecuente, con herencia autosómica dominante y expresividad variable. En su forma completa presenta 5 signos clínicos característicos: colestasis intrahepática crónica, una facies característica, anomalías cardiovasculares, embriotoxon posterior y defectos vertebrales. Si solo 3 o 4 de estos están presentes se dice que es una forma incompleta del síndrome. Es extremadamente infrecuente su asociación con sinostosis radiocubitales, habiendo solo un caso descrito de esta asociación en la literatura indexada. Presentamos un caso de síndrome de Alagille asociado a una sinostosis radiocubital proximal bilateral. Que los autores tengan noticia, es el segundo caso de esta asociación publicado en la literatura (AU)


Alagille's syndrome is an infrequent genetic condition with autosomal inheritance and variable expression. The complete form exhibits 5 clinical signs, chronic intrahepatic cholestasis, characteristic facies, cardiovascular anomalies, posterior embryotoxon, and vertebral defects. If only 3 or 4 of these are present the case is considered as an incomplete form. The association of Alagille's syndrome with radio-ulnar synostosis is extremely rare. There is only one case described in the indexed literature. A case is presented of Alagille's syndrome with bilateral proximal radioulnar synostosis. To the best of our knowledge this is the second reported case of this association (AU)


Assuntos
Humanos , Masculino , Criança , Síndrome de Alagille/diagnóstico , Rádio (Anatomia)/anormalidades , Sinostose/diagnóstico , Ulna/anormalidades
9.
Metas enferm ; 19(1): 27-31, feb. 2016. tab
Artigo em Espanhol | IBECS | ID: ibc-153575

RESUMO

Es conocido que un elevado número de personas portadoras de una ostomía, independientemente de la profesión que vinieran realizando antes de la cirugía, se les incapacita legalmente para continuar realizando su actividad laboral. A raíz de la experiencia de las enfermeras especialistas en el cuidado de pacientes ostomizados, surge la duda de si quizá haya casos en los que hay personas que son aptas y capaces de seguir desarrollando su labor, una vez que su estado de salud lo permita. Se presenta el caso de un paciente de 40 años de edad, buzo profesional, diagnosticado de adenocarcinoma de colon, tratado quirúrgicamente con una amputación abdominoperineal y con una colostomía permanente, que fue tratado posteriormente con quimioterapia y radioterapia. El deseo del buzo devolver a realizar su labor profesional, junto con el consejo y apoyo de la enfermera estomaterapeuta y otros colaboradores de otros servicios del hospital, hicieron posible la planificación de una estrategia para poder conseguir revertir esta situación y así volver a desempeñar su profesión. Desde entonces esta persona lleva a cabo una vida normal irrigándose y utilizando obturador, realizando inmersiones submarinas de carácter deportivo con botella de oxígeno hasta 40metros, sin presentar complicaciones o limitaciones que puedan impedir que desarrolle su actividad profesional adecuadamente


It is a fact that a high number of persons with ostomy, regardless of their profession before surgery, become legally disabled to continue with their work activity. Based on the experience of nurses specialized in care for ostomized patients, doubts have arisen about those potential cases in which persons are able to continue conducting their activity, once their health status allows them to. We present the case of a 40-year-old patient, who is a professional Scuba diver, diagnosed with colon adenocarcinoma, surgically treated with abdominoperineal resection and permanent colostomy, who was subsequently treated with chemotherapy and radiotherapy. The willingness by the Scuba diver to engage again in his professional work, together with the advice and support by the stoma therapist nurse and collaboration from staff in other hospital units, made it possible to plan a strategy in order to reverse this situation, so that he could go back to his profession. Since then, this person leads a normal life, irrigating himself and using a shutter, conducting submarine immersions of sports nature with an oxygen bottle up to 40 metres, without showing complications or limitations which might prevent him from conducting his professional activity adequately


Assuntos
Humanos , Masculino , Adulto , Estomia/estatística & dados numéricos , Neoplasias do Colo/cirurgia , Adenocarcinoma/cirurgia , Absenteísmo , Licença Médica/estatística & dados numéricos , Qualidade de Vida , Perfil de Impacto da Doença , Mergulho/fisiologia
11.
Rev Clin Esp (Barc) ; 216(1): 19-21, 2016.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-26708227
12.
Rev Esp Cir Ortop Traumatol ; 60(1): 81-5, 2016.
Artigo em Espanhol | MEDLINE | ID: mdl-25037110

RESUMO

Alagille's syndrome is an infrequent genetic condition with autosomal inheritance and variable expression. The complete form exhibits 5 clinical signs, chronic intrahepatic cholestasis, characteristic facies, cardiovascular anomalies, posterior embryotoxon, and vertebral defects. If only 3 or 4 of these are present the case is considered as an incomplete form. The association of Alagille's syndrome with radio-ulnar synostosis is extremely rare. There is only one case described in the indexed literature. A case is presented of Alagille's syndrome with bilateral proximal radioulnar synostosis. To the best of our knowledge this is the second reported case of this association.


Assuntos
Síndrome de Alagille/diagnóstico , Rádio (Anatomia)/anormalidades , Sinostose/diagnóstico , Ulna/anormalidades , Pré-Escolar , Humanos , Masculino
13.
Acta pediatr. esp ; 73(5): e110-e121, mayo 2015. graf
Artigo em Espanhol | IBECS | ID: ibc-140300

RESUMO

La hipofibrinogenemia es una complicación infrecuente pero bien conocida en el contexto de las leucemias agudas. Generalmente, se asocia a la presencia de una coagulación intravascular diseminada, aunque pueden existir otras causas, como el daño hepático o el empleo de L-asparraginasa. La literatura recoge pocos casos en que esta alteración de la coagulación esté inducida por corticoides, como el aquí presentado. Se expone el caso de un niño diagnosticado de leucemia linfoblástica aguda que desarrolló hipofibrinogenemia tras iniciar tratamiento con prednisona, y se ha realizado una revisión bibliográfica a propósito del caso (AU)


Hypofibrinogenemia is an uncommon but well-recognized complication of acute leukaemia. In most instances, it has been associated with disseminated intravascular coagulation, although other causes as liver injury or treatment with L-asparraginase could exist. The literature includes rare cases in which this coagulation disorder is induced by prednisone as our report. We report the case of a child diagnosed of acute lymphoblastic leukemia with hypofibrinogenemia during the course of treatment with prednisone and we have reviewed the literature concerning the case (AU)


Assuntos
Pré-Escolar , Humanos , Masculino , Afibrinogenemia/etiologia , Prednisona/efeitos adversos , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Glucocorticoides/efeitos adversos
15.
An Pediatr (Barc) ; 82(1): e189-91, 2015 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-24631100

RESUMO

ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations. There are no references of the combination of ATR-16 syndrome and osteosarcoma in the literature. Osteosarcoma usually has a complex karyotype, characterized by a high degree of heterogeneity of chromosomal aberrations, among which is the involvement of chromosome 16. We report a case of a patient with ATR-16 syndrome diagnosed with femoral osteosarcoma.


Assuntos
Neoplasias Ósseas/complicações , Deficiência Intelectual/complicações , Osteossarcoma/complicações , Talassemia alfa/complicações , Adolescente , Humanos , Masculino
18.
Anim Reprod Sci ; 149(3-4): 204-11, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25192831

RESUMO

Equine germplasm bank management involves not only the conservation and use of semen doses, in addition it can also be a resource to study stallion semen quality and after thawing semen properties for reproductive purposes. A possible criterion to measure quality may be based on differential gene expression of loci involved during spermatogenesis and sperm quality maturation. The rapid degradation of sperm after thawing affects the integrity and availability of RNA. In this study we have analyzed genes expressed in equine cryopreserved sperm, which provided an adequate amplification, specificity, and stability to be used as future reference genes in expression studies. Live spermatozoa were selected from cryopreserved semen straws derived from 20 stallions, through a discontinuous concentration gradient. RNA purification followed a combination of the organic and column extraction methods together with a deoxyribonuclease treatment. The selective amplification of nine candidate genes was undertaken using reverse transcription and real-time polymerase chain reaction (qPCR) carried out in a one-step mode (qRT-PCR). Specificities were tested by melting curves, agarose gel electrophoresis and sequencing. In addition, gene stabilities were also calculated. Results indicated that five out of the nine candidate genes amplified properly (ß-Actin, ATP synthase subunit beta, Protamine 1, L32 ribosomal protein and Ubiquitin B), of which ß-Actin and the L32 Ribosomal protein showed the highest stability thus being the most suitable to be considered as reference genes for equine cryopreserved sperm studies, followed by the ATP synthase subunit beta and Ubiquitin B.


Assuntos
Criopreservação/veterinária , Cavalos/fisiologia , ATPases Mitocondriais Próton-Translocadoras/metabolismo , Proteínas Ribossômicas/metabolismo , Preservação do Sêmen/veterinária , Sêmen/fisiologia , Animais , Masculino , ATPases Mitocondriais Próton-Translocadoras/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa/veterinária , Proteínas Ribossômicas/genética
19.
Farm Hosp ; 38(3): 227-30, 2014 May 01.
Artigo em Espanhol | MEDLINE | ID: mdl-24951908

RESUMO

The transition of patients between different levels of care process is a particular risk in the production of medication errors. The aim of this paper is to analyze the role of the pharmacist in preventing errors transition care to ensure a safe and cross pharmacotherapy of patients.Transversal, observational and descriptive study in a University Hospital that has a pharmacy service that integrates specialized inpatient care and health centers. Transition of care a patient treated with Apormorfina was analyzed to determine the keypoints of action of the pharmacist. Demographics, disease and medication history, and care transition episodes were collected through the pharmacy program and electronics history.The pharmacist did tasks adapting, reconciliation, management and reporting of medication to the health care team to prevent medication errors in care transition of patients treated with drugs requiring special handling .In conclusion, this work represents perfectly the key role of the pharmacist as coordinator of safe and transverse pharmacotherapy of patients.


La transición de los pacientes entre los diferentes niveles asistencialesconstituye un proceso de especial riesgo en la producciónde errores de medicación. El objetivo de este trabajo esmostrar el papel del farmacéutico en la prevención errores paragarantizar una farmacoterapia segura y transversal de lospacientes.Estudio transversal, observacional y descriptivo en un ComplejoHospitalario Universitario que cuenta con un Servicio de Farmaciaque integra atención especializada a pacientes hospitalizadosy a residentes de centros sociosanitarios. Se analizó la transiciónasistencial de una paciente tratada con Apomorfina paradeterminar los puntos clave de actuación del farmacéutico. Serecogieron datos demográficos, patología e historia farmacoterapéutica,así como los episodios de transición asistencial, a travésdel programa de Farmacia y la historia electrónica.El farmacéutico realizó tareas de adecuación, conciliación, gestióne información de la medicación al equipo asistencial paraprevenir errores de medicación en la transición asistencial depacientes tratados con fármacos de especial manejo.En conclusión este trabajo representa los puntos críticos deintervención del farmacéutico como coordinador de la farmacoterapiasegura y transversal de los pacientes.


Assuntos
Antiparkinsonianos/uso terapêutico , Apomorfina/uso terapêutico , Erros de Medicação/prevenção & controle , Transferência da Responsabilidade pelo Paciente/organização & administração , Idoso , Antiparkinsonianos/efeitos adversos , Apomorfina/efeitos adversos , Registros Eletrônicos de Saúde , Feminino , Humanos , Serviço de Farmácia Hospitalar/organização & administração
20.
Acta pediatr. esp ; 72(1): e15-e22, ene. 2014. graf
Artigo em Espanhol | IBECS | ID: ibc-128759

RESUMO

El fallo hepático agudo neonatal es una entidad poco frecuente, con una mortalidad muy elevada. La sospecha de fallo hepático ante situaciones de mal estado general y disfunción hepática, hipoglucemia recurrente o persistente y clínica de sepsis es fundamental para establecer un tratamiento precoz y efectivo. Existen pruebas de primera y segunda línea para poder orientar un diagnóstico etiológico, a la vez que se instauran medidas generales que permitan su estabilización, antes de considerar otras medidas terapéuticas, como el trasplante hepático. Presentamos el inicio y la evolución de 2 casos de fallo hepático neonatal diagnosticados de hemocromatosis y linfohistiocitosis hemofagocítica familiar (AU)


Acute neonatal liver failure is a rare entity with a high mortality rate. In order to establish an early and effective treatment, a high index of suspicion in newborns with a poor general condition and hepatic dysfunction, recurrent or persistent hypoglycaemia and signs and symptoms of sepsis, is critical. There are first- and second-line test to establish the aetiology, parallel to the implementation of general stabilization measures, and prior to the consideration of other therapeutic options such as liver transplantation. We present the onset and the outcome of two patients affected from acute neonatal liver failure that were diagnosed of hemochromatosis and hemophagocytic lymphohistiocytosis, respectively (AU)


Assuntos
Humanos , Gravidez , Feminino , Recém-Nascido , Hemocromatose/diagnóstico , Hemocromatose/metabolismo , Hemocromatose/mortalidade , Doenças do Recém-Nascido/diagnóstico , Hemocromatose/complicações , Hemocromatose/embriologia , Doenças do Recém-Nascido/genética , Doenças do Recém-Nascido/metabolismo
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