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2.
Rev Esp Anestesiol Reanim (Engl Ed) ; 69(4): 208-241, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35585017

RESUMO

In recent years, multidisciplinary programs have been implemented that include different actions during the pre, intra and postoperative period, aimed at reducing perioperative stress and therefore improving the results of patients undergoing surgical interventions. Initially, these programs were developed for colorectal surgery and from there they have been extended to other surgeries. Thoracic surgery, considered highly complex, like other surgeries with a high postoperative morbidity and mortality rate, may be one of the specialties that most benefit from the implementation of these programs. This review presents the recommendations made by different specialties involved in the perioperative care of patients who require resection of a lung tumor. Meta-analyzes, systematic reviews, randomized and non-randomized controlled studies, and retrospective studies conducted in patients undergoing this type of intervention have been taken into account in preparing the recommendations presented in this guide. The GRADE scale has been used to classify the recommendations, assessing on the one hand the level of evidence published on each specific aspect and, on the other hand, the strength of the recommendation with which the authors propose its application. The recommendations considered most important for this type of surgery are those that refer to pre-habilitation, minimization of surgical aggression, excellence in the management of perioperative pain and postoperative care aimed at providing rapid postoperative rehabilitation.


Assuntos
Anestesia , Cirurgia Torácica , Humanos , Pulmão , Dor , Estudos Retrospectivos , Procedimentos Cirúrgicos Vasculares
3.
Brain Behav Immun Health ; 18: 100381, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34746880

RESUMO

BACKGROUND: To prevent the invasion and transmission of SARS-CoV-2, mRNA-based vaccines, non-replicating viral vector vaccines, and inactivated vaccines have been developed. The European Medicines Agency (EMA) authorized the use of the anti-SARS-CoV-2 vaccine in January 2021, the date on which the vaccination program began in Spain and across Europe. The aim of this study is to monitor the safety of anti-SARS-CoV-2 vaccines and report any cases of undesirable effects that have occurred, that are not included in the health profile of mRNA-based vaccines for commercialisation in humans. Furthermore, a brief review is given of the mechanism of action of the anti-SARS-CoV-2 vaccine on the host's immune system in triggering the reactivation of the herpes varicella-zoster infection. METHODS: Follow-up of patients under the care of the southern health district of Seville of the SAS (Andalusian Health Service) during the Spanish state of alarm over the COVID-19 pandemic. RESULTS: Two patients, a 79-year-old man and a 56-year-old woman, are reported who, after 4 and 16 days respectively of receiving the Pfizer-BNT162b2 vaccine against SARS-CoV-2, presented a state of reactivation of herpes varicella-zoster virus (VZV). DISCUSSION: The immunosenescence of the reported patients, together with the immunomodulation generated by administering the anti-SARS-CoV-2 vaccines, that depress certain cell subpopulations, could explain the awakening of VZV latency.

4.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-34294445

RESUMO

In recent years, multidisciplinary programs have been implemented that include different actions during the pre, intra and postoperative period, aimed at reducing perioperative stress and therefore improving the results of patients undergoing surgical interventions. Initially, these programs were developed for colorectal surgery and from there they have been extended to other surgeries. Thoracic surgery, considered highly complex, like other surgeries with a high postoperative morbidity and mortality rate, may be one of the specialties that most benefit from the implementation of these programs. This review presents the recommendations made by different specialties involved in the perioperative care of patients who require resection of a lung tumor. Meta-analyses, systematic reviews, randomized and non-randomized controlled studies, and retrospective studies conducted in patients undergoing this type of intervention have been taken into account in preparing the recommendations presented in this guide. The GRADE scale has been used to classify the recommendations, assessing on the one hand the level of evidence published on each specific aspect and, on the other hand, the strength of the recommendation with which the authors propose its application. The recommendations considered most important for this type of surgery are those that refer to pre-habilitation, minimization of surgical aggression, excellence in the management of perioperative pain and postoperative care aimed at providing rapid postoperative rehabilitation.

5.
Epidemiol Infect ; 149: e145, 2021 06 16.
Artigo em Inglês | MEDLINE | ID: mdl-34130765

RESUMO

The appearance on the skin of herpes virus lesions, concomitantly with the coronavirus disease 2019 (COVID-19) pandemic, leads us to suspect an underlying infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). Diagnostic reverse transcriptase polymerase chain reaction tests and immunoglobulin M (IgM) and IgG seroconversion studies have therefore been carried out. We present three cases of herpes virus infections in immunocompetent patients: one of the infections was herpes simplex 1 in a 40-year-old woman, and the other two were herpes varicella-zoster infections in a 62-year-old man and a 25-year-old woman. The patients were in the care of the southern health district of Seville of the SAS (Andalusian Health Service) during the Spanish state of alarm over the COVID-19 pandemic. The SARS-CoV-2 infection was confirmed in only one of the three cases. In this study, we briefly review the etiopathogenic role of the COVID-19 pandemic situation, whereby immunodeficiencies are generated that favour the appearance of other viral infections, such as herpes virus infections.


Assuntos
COVID-19/complicações , Herpes Simples/etiologia , Herpes Zoster/etiologia , Herpesvirus Humano 3/fisiologia , Simplexvirus/fisiologia , Ativação Viral , Adulto , COVID-19/epidemiologia , COVID-19/virologia , Feminino , Herpes Simples/diagnóstico , Herpes Simples/virologia , Herpes Zoster/diagnóstico , Herpes Zoster/virologia , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Espanha/epidemiologia
6.
J Neurooncol ; 140(1): 107-113, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29959694

RESUMO

PURPOSE: The neuroimaging diagnosis of diffuse gliomas can be challenging owing to their variable clinical and radiologic presentation. The purpose of this study was to identify factors that are associated with imaging errors in the diagnosis of diffuse gliomas. METHODS: A retrospective case-control analysis was undertaken. 18 misdiagnosed diffuse gliomas on initial neuroimaging (cases) and 108 accurately diagnosed diffuse gliomas on initial neuroimaging (controls) were collected. Clinical, pathological, and imaging metrics were tabulated for each patient. The tabulated metrics were compared between cases and controls to determine factors associated with misdiagnosis. RESULTS: Cases of misdiagnosed diffuse glioma (vs controls) were more likely to undergo initial triage as a stroke workup [OR 14.429 (95% CI 4.345, 47.915), p < 0.0001], were less likely to enhance [OR 0.283 (95% CI 0.098, 0.812), p = 0.02], were smaller (mean diameter 4.4 vs 6.0 cm, p = 0.0008), produced less midline shift (median midline shift 0.0 vs 2.0 mm, p = 0.003), were less likely to demonstrate necrosis [OR 0.156 (95% CI 0.034-0.713), p = 0.008], and were less likely to have IV contrast administered on the initial MRI [OR 0.100 (95% CI 0.020, 0.494), p = 0.008]. CONCLUSION: Several clinical and radiologic metrics are associated with diffuse gliomas that are missed or misdiagnosed on the initial neuroimaging study. Knowledge of these associations may aid in avoiding misinterpretation and accurately diagnosing such cases in clinical practice.


Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Erros de Diagnóstico , Glioma/diagnóstico por imagem , Neuroimagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Erros de Diagnóstico/prevenção & controle , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Adulto Jovem
7.
J Cell Biochem ; 117(8): 1926-33, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-26756719

RESUMO

Melatonin is a molecule endogenously produced in a wide variety of immune cells, including mast cells (RBL-2H3). It exhibits immunomodulatory, anti-inflammatory and anti-apoptotic properties. The physiologic mechanisms underlying these activities of melatonin have not been clarified in mast cells. This work is designed to determine the anti-inflammatory effect and mechanism of action of melatonin on activated mast cells. RBL-2H3 were pre-treated with exogenous melatonin (MELx) at physiological (100nM) and pharmacological (1 mM) doses for 30 min, washed and activated with PMACI (phorbol 12-myristate 13-acetate plus calcium ionophore A23187) for 2 h and 12 h. The data shows that pre-treatment of MELx in stimulated mast cells, significantly reduced the levels of endogenous melatonin production (MELn), TNF-α and IL-6. These effects are directly related with the MELx concentration used. MELx also inhibited IKK/NF-κB signal transduction pathway in stimulated mast cells. These results indicate a molecular basis for the ability of melatonin to prevent inflammation and for the treatment of allergic inflammatory diseases through the down-regulation of mast cell activation. J. Cell. Biochem. 117: 1926-1933, 2016. © 2016 Wiley Periodicals, Inc.


Assuntos
Anti-Inflamatórios não Esteroides/farmacologia , Mastócitos/imunologia , Melatonina/farmacologia , NF-kappa B/imunologia , Transdução de Sinais/efeitos dos fármacos , Animais , Calcimicina/toxicidade , Linhagem Celular Tumoral , Interleucina-6/imunologia , Ratos , Transdução de Sinais/imunologia , Acetato de Tetradecanoilforbol/toxicidade , Fator de Necrose Tumoral alfa/imunologia
8.
J Pineal Res ; 55(2): 103-20, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23889107

RESUMO

Melatonin is the major secretory product synthesized and secreted by the pineal gland and shows both a wide distribution within phylogenetically distant organisms from bacteria to humans and a great functional versatility. In recent years, a considerable amount of experimental evidence has accumulated showing a relationship between the nervous, endocrine, and immune systems. The molecular basis of the communication between these systems is the use of a common chemical language. In this framework, currently melatonin is considered one of the members of the neuroendocrine-immunological network. A number of in vivo and in vitro studies have documented that melatonin plays a fundamental role in neuroimmunomodulation. Based on the information published, it is clear that the majority of the present data in the literature relate to lymphocytes; thus, they have been rather thoroughly investigated, and several reviews have been published related to the mechanisms of action and the effects of melatonin on lymphocytes. However, few studies concerning the effects of melatonin on cells belonging to the innate immunity have been reported. Innate immunity provides the early line of defense against microbes and consists of both cellular and biochemical mechanisms. In this review, we have focused on the role of melatonin in the innate immunity. More specifically, we summarize the effects and action mechanisms of melatonin in the different cells that belong to or participate in the innate immunity, such as monocytes-macrophages, dendritic cells, neutrophils, eosinophils, basophils, mast cells, and natural killer cells.


Assuntos
Imunidade Inata , Melatonina/fisiologia , Sistema Fagocitário Mononuclear/imunologia , Animais , Granulócitos/imunologia , Humanos , Células Matadoras Naturais/imunologia , Melatonina/biossíntese , Melatonina/metabolismo
9.
J Neuroimmunol ; 262(1-2): 62-5, 2013 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-23870536

RESUMO

Melatonin has documented cytoprotective effects on a wide variety of immune cells. The mechanism of action on mast cells (RBL-2H3) still remains in the dark. We found that melatonin significantly attenuated phorbol 12-myristate 13-acetate plus calcium ionophore A23187 (PMACI)-induced cytotoxicity in a concentration and time-dependent manner. It appears that the effect of melatonin on mast cells is two-fold: dependent (MT1 and MT2) and independent membrane receptors. In conclusion, melatonin treatment reduced the cytotoxicity, mediated by PMACI, and could provide a useful therapeutic option in processes where an excessive activation of mast cells occurs.


Assuntos
Antioxidantes/farmacologia , Calcimicina/toxicidade , Mastócitos/efeitos dos fármacos , Melatonina/farmacologia , Animais , Antioxidantes/administração & dosagem , Ionóforos de Cálcio/toxicidade , Carcinógenos/toxicidade , Linhagem Celular Tumoral , Citotoxicidade Imunológica , Regulação para Baixo/imunologia , Melatonina/administração & dosagem , Ésteres de Forbol/toxicidade , Ratos , Fatores de Tempo
10.
J Pineal Res ; 55(1): 26-30, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23607887

RESUMO

Beer is a beverage consumed worldwide. It is produced from cereals (barley or wheat) and contains a wide array of bioactive phytochemicals and nutraceutical compounds. Specifically, high melatonin concentrations have been found in beer. Beers with high alcohol content are those that present the greatest concentrations of melatonin and vice versa. In this study, gel filtration chromatography and ELISA were combined for melatonin determination. We brewed beer to determine, for the first time, the beer production steps in which melatonin appears. We conclude that the barley, which is malted and ground in the early process, and the yeast, during the second fermentation, are the largest contributors to the enrichment of the beer with melatonin.


Assuntos
Cerveja , Fermentação/fisiologia , Hordeum/metabolismo , Melatonina , Leveduras/metabolismo , Análise de Variância , Melatonina/análise , Melatonina/metabolismo
11.
Physiol Behav ; 105(5): 1099-103, 2012 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-22212240

RESUMO

Acute sport exercise leads to a strong stimulation of muscle tissue and a change in the organism energy demands. This study was designed to investigate the effect of oral melatonin supplementation on human physiological functions associated with acute exercise. Immune, endocrine and metabolic parameters were measured in 16 young male football players, who were divided into two groups, an experimental group (supplementation with 6 mg of melatonin administered 30 min prior to exercise) and a control group (placebo without melatonin). They performed a continuous exercise of high intensity (135 beats/min). Samples were collected 30 min before the exercise and 3, 15 and 60 min during the exercise. The results indicated that the acute sport training presented: a) increased lipid peroxidation products (MDA) in both groups, control and experimental, with levels significantly decreased in the group treated with melatonin after 15 and 60 min of high-intensity exercise, b) the total antioxidant activity (TAS) was lower in the control group than in the experimental, the latter showing significant differences at 60 min of high-intensity exercise c) the lipid profile of subjects in the experimental group showed lower triglyceride levels than the control group after 15 and 60 min of high-intensity exercise, d) immunological studies only showed, in the experimental group, an increase in IgA levels at 60 min after the exercise, and finally there were no significant differences between the groups for any of the other variables. In conclusion these results indicated that treatment with melatonin in acute sports exercise reversed oxidative stress, improved defenses and lipid metabolism, which would result in an improvement in fitness.


Assuntos
Exercício Físico/fisiologia , Melatonina/fisiologia , Estresse Oxidativo/fisiologia , Esforço Físico/fisiologia , Administração Oral , Antioxidantes/administração & dosagem , Atletas , Humanos , Imunoglobulina A/sangue , Metabolismo dos Lipídeos/efeitos dos fármacos , Metabolismo dos Lipídeos/fisiologia , Lipídeos/sangue , Masculino , Melatonina/administração & dosagem , Estresse Oxidativo/efeitos dos fármacos , Esforço Físico/efeitos dos fármacos , Futebol/fisiologia
12.
Clin Pract Epidemiol Ment Health ; 6: 79-85, 2010 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-21139984

RESUMO

BACKGROUND: Liver transplantation is the optimal method of treatment in patients with end-stage liver failure. Transplantation medicine has significantly progressed in the last time, but some psychology and psychosomatic problems still remain unsolved. Health-Related Quality of Life (HRQL) in liver transplant is considered a useful measure of evolutionary process of the illness. OBJECTIVE: The authors analyzed the evolution of HRQL in pre-transplant (waiting-list patients) and post-transplant (first year after liver transplant) periods of liver transplant Spanish patients. METHODS: A prospective and longitudinal study was carried out among patients who received a liver transplant from a deceased donor. They were assessed in four phases: at the time of inclusion on the transplant waiting-list, and 3, 6, and 12 months after receiving the graft. We used a structured interview and SF-36 and Euroqol-5D (EQ-5D) Health Questionnaires. RESULTS: The greater differences were found between pre-transplant and post-transplant stages with less well-being in the stage before the transplant. No significantly differences were observed when comparing the 3, 6 and 12 months from post-transplant stage. CONCLUSION: The HQRL of liver patients improved after the transplant, being appreciated a tendency to the stabilization from three months onwards. We suggest that the psychological intervention, in liver patients, should be conducted in waiting-list patients and in the first 3 months post-transplant, periods with a poor mental health (anxiety, depression, and stress by fear to the unknown thing) and a low adhesion to the treatment that can generate a smaller graft and/or patient survival.

13.
Pharmacol Res ; 62(3): 282-7, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19963060

RESUMO

Mast cells take part of armamentarium immunologic for host defense against parasitic and bacterial infections. They are derived from bone marrow progenitors and can be activated by immunological and chemical stimuli in order to get its degranulation. The activation of mast cells generates a signalling cascade leaded to the rapid release of vasoactives and pro-inflammatory mediators. Melatonin (N-acetyl-5-methoxytryptamine) is a molecule with antioxidant, cytoprotective and immunomodulatory actions. It was initially known to be produced exclusively in the pineal gland but melatonin synthesis has been found in different sites of the organism, and a major source of extrapineal melatonin is the immune system. The aim of the present study was to prove if the rat mast cell line (RBL-2H3) synthesizes and releases melatonin, also to explain its possible mechanism of action. We report that both resting and stimulated mast cells synthesize and release melatonin. We also report that the necessary machinery to synthesize melatonin is present in mast cells and that these cells showed the presence of MT1 and MT2 melatonin membrane receptors. Those results indicated that the melatonin would be able to exert a regulatory effect on inflammatory reactions mediated by mast cells.


Assuntos
Mastócitos/metabolismo , Melatonina/metabolismo , Animais , Antioxidantes/metabolismo , Linhagem Celular , Sobrevivência Celular , Expressão Gênica , Fatores Imunológicos/imunologia , Fatores Imunológicos/metabolismo , Inflamação/imunologia , Inflamação/metabolismo , Mastócitos/imunologia , Melatonina/imunologia , Ratos , Receptores de Melatonina/genética
15.
Am J Physiol Regul Integr Comp Physiol ; 292(6): R2208-15, 2007 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17379847

RESUMO

Melatonin is produced not only by the pineal gland but by cells of the bone marrow. Moreover, melatonin is known to promote osteogenic differentiation in several cell line models and in multipotential bone marrow mesenchymal stem cells. Fatty acids have been independently shown to direct such cells to acquire the phenotype and molecular characteristics of adipocytes. To examine the effect of melatonin on intracellular triglyceride accumulation, an indicator of adipogenic differentiation in the rat osteoblast-like ROS17/2.8 cell line, cells were incubated with added oleic acid (100 muM), fixed and stained with Oil Red O. Cellular lipid accumulation was quantitated by an Oil Red O method highly specific for triglycerides and expressed as a triglyceride accumulation index (TGAI, triglyceride per cell). Melatonin in nanomolar concentrations inhibited oleic acid-induced triglyceride accumulation. To identify the mechanism by which melatonin reduces triglyceride accumulation, cells were incubated with the two melatonin receptor antagonists, luzindole and S20928, or forskolin, a stimulator of adenylyl cyclase and cAMP production. These compounds prevented the inhibitory effect of melatonin on triglyceride accumulation, indicating that melatonin acts through known melatonin receptor-mediated mechanisms. In view of the previously demonstrated positive effects of melatonin in promoting osteoblastic differentiation in ROS17/2.8 cells and their reciprocal adipocytic differentiation induced by fatty acids, our observations may serve to relate the known age-related decreases of melatonin production, the shift in the bone marrow toward an adipocytic line of cell development, and the development of osteoporosis during aging.


Assuntos
Adipócitos/citologia , Adipócitos/metabolismo , Melatonina/administração & dosagem , Ácido Oleico/administração & dosagem , Osteoblastos/citologia , Osteoblastos/metabolismo , Triglicerídeos/metabolismo , Adipócitos/efeitos dos fármacos , Animais , Diferenciação Celular/efeitos dos fármacos , Diferenciação Celular/fisiologia , Linhagem Celular , Osteoblastos/efeitos dos fármacos , Osteoporose/metabolismo , Osteoporose/patologia , Ratos
16.
J Pineal Res ; 42(1): 1-11, 2007 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17198533

RESUMO

Craniocerebral trauma (CCT) is the most frequent cause of morbidity-mortality as a result of an accident. The probable origins and etiologies are multifactorial and include free radical formation and oxidative stress, the suppression of nonspecific resistance, lymphocytopenia (disorder in the adhesion and activation of cells), opportunistic infections, regional macro and microcirculatory alterations, disruptive sleep-wake cycles and toxicity caused by therapeutic agents. These pathogenic factors contribute to the unfavorable development of clinical symptoms as the disease progresses. Melatonin (N-acetyl-5-methoxytryptamine) is an indoleamine endogenously produced in the pineal gland and in other organs and it is protective agent against damage following CCT. Some of the actions of melatonin that support its pharmacological use after CCT include its role as a scavenger of both oxygen and nitrogen-based reactants, stimulation of the activities of a variety of antioxidative enzymes (e.g. superoxide dismutase, glutathione peroxidase, glutathione reductase and catalase), inhibition of pro-inflammatory cytokines and activation-adhesion molecules which consequently reduces lymphocytopenia and infections by opportunistic organisms. The chronobiotic capacity of melatonin may also reset the natural circadian rhythm of sleep and wakefulness. Melatonin reduces the toxicity of the drugs used in the treatment of CCT and increases their efficacy. Finally, melatonin crosses the blood-brain barrier and reduces contusion volume and stabilizes cellular membranes preventing vasospasm and apoptosis of endothelial cells that occurs as a result of CCT.


Assuntos
Traumatismos Craniocerebrais/tratamento farmacológico , Sequestradores de Radicais Livres/uso terapêutico , Melatonina/uso terapêutico , Traumatismos Craniocerebrais/complicações , Traumatismos Craniocerebrais/imunologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Humanos , Transtornos do Sono-Vigília/etiologia
17.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 33(5): 202-204, ago. 2006. ilus
Artigo em Es | IBECS | ID: ibc-046653

RESUMO

Presentamos 2 casos de isoinmunización Rh en los que se realizó seguimiento mediante la medición de la velocidad máxima sistólica (VMS) de la arteria cerebral media (ACM). Destacamos la utilidad de este método no invasivo en el manejo de la anemia fetal (AU)


We present 2 cases of Rh isoimmunization. Management was based on measurement of the maximal systolic velocity of the middle cerebral artery. We highlight the usefulness of this noninvasive method in the management of fetal anemia (AU)


Assuntos
Feminino , Gravidez , Adulto , Humanos , Isoimunização Rh/terapia , Eritroblastose Fetal/terapia , Artéria Cerebral Média , Eritroblastose Fetal , Volume Sistólico/fisiologia
18.
Prog. obstet. ginecol. (Ed. impr.) ; 47(6): 295-299, jun. 2004. ilus
Artigo em Es | IBECS | ID: ibc-33664

RESUMO

Se presenta un caso de hemorragia intraventricular fetal, diagnosticada a las 28 semanas de gestación y debida a resistencia a la proteína C activada por factor V Leiden. Describimos los factores de riesgo maternos y fetales asociados a la HIV así como su evolución ecográfica (AU)


Assuntos
Adulto , Gravidez , Feminino , Humanos , Recém-Nascido , Hemorragia Cerebral/congênito , Complicações na Gravidez , Hemorragia Cerebral/etiologia , Hemorragia Cerebral/genética , Hemorragia Cerebral , Complicações na Gravidez/etiologia , Resistência à Proteína C Ativada/complicações , Segundo Trimestre da Gravidez
19.
Prog. obstet. ginecol. (Ed. impr.) ; 47(2): 96-98, feb. 2004. ilus
Artigo em Es | IBECS | ID: ibc-30819

RESUMO

Se presenta el caso de una paciente de 60 años, con trasplante renal, con una masa pélvica de aspecto quístico situada entre el canto uterino y el riñón trasplantado. Se describe cómo se llegó al diagnóstico, el tratamiento que se siguió y su evolución (AU)


Assuntos
Feminino , Pessoa de Meia-Idade , Humanos , Linfocele/diagnóstico , Pelve/patologia , Pós-Menopausa , Transplante de Rim/efeitos adversos , Rim Policístico Autossômico Dominante/complicações
20.
Pediatr Res ; 44(1): 83-4, 1998 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-9667375

RESUMO

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is recognized as the most common hereditary defect of fatty acid oxidation in humans. Death is the outcome of the first attack in about 25% of cases. A point mutation (A to G [corrected] at position 985) of the MCAD gene represents more than 90% of alleles causing MCAD deficiency. The frequency of this allelic variant exhibits considerable geographical variations. In Spain, where the few diagnosed patients are mostly of Gypsy origin, the frequency is low as occurs in other Southern European countries (1 heterozygote among 200 individuals). Here we have analyzed the frequency of the G985 allele among Spanish gypsies. Heterozygotes were detected at a frequency of 1/17, with a 95% confidence interval ranging from 1/11 to 1/39. This represents the highest G985 rate described so far and calls for preventive measures, such as selective screening in this population.


Assuntos
Acil-CoA Desidrogenases/deficiência , Erros Inatos do Metabolismo Lipídico/epidemiologia , Erros Inatos do Metabolismo Lipídico/genética , Mutação Puntual , Roma (Grupo Étnico)/genética , Acil-CoA Desidrogenase , Acil-CoA Desidrogenases/genética , Alanina , Alelos , Frequência do Gene , Triagem de Portadores Genéticos , Variação Genética , Glicina , Homozigoto , Erros Inatos do Metabolismo Lipídico/enzimologia , Fatores de Risco , Espanha
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