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INTRODUCTION: Few data are available in Spain data on human immunodeficiency virus (HIV) patients coinfected with malaria. This study has aimed to determine the epidemiological and clinical characteristics of imported malaria in patients coinfected with HIV. PATIENTS AND METHODS: A case-series retrospective study was performed using the patient's medical records. The study population consisted on patients diagnosed with malaria attended in our center from january 1, 2002 to december 31, 2007. RESULTS: A total of 484 episodes of malaria, 398 of which were included in this study, were identified. Co-infection with HIV was described in 32 cases. All of them occurred in individuals presumably with some degree of semi-immunity. In the coinfected group, there were 13 cases (40.6%) asymptomatic, whereas this event occurred in 99 cases of patients not coinfected (37.2%) (P=0.707). The greater presence of anemia in co-infected patients (62.5% vs 32.3% in non-coinfected [P=0.001]) stands out. CONCLUSIONS: In present study, the clinical presentation forms were similar, regardless of the presence or absence of HIV infection. Although the study population does not reflect all possible scenarios of malaria and HIV coinfection, our results indicate the reality of patients attended in the Autonomous Community of Madrid.
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Coinfección , Infecciones por VIH , VIH-1 , Malaria , Adulto , Enfermedades Asintomáticas/epidemiología , Coinfección/diagnóstico , Coinfección/epidemiología , Coinfección/transmisión , Emigrantes e Inmigrantes , Femenino , Infecciones por VIH/complicaciones , Infecciones por VIH/diagnóstico , Infecciones por VIH/epidemiología , Humanos , Malaria/complicaciones , Malaria/diagnóstico , Malaria/epidemiología , Malaria/transmisión , Masculino , Persona de Mediana Edad , Plasmodium/aislamiento & purificación , Estudios Retrospectivos , España/epidemiología , ViajeRESUMEN
INTRODUCTION: Up to now, the epidemiological and clinical features of imported malaria in Spain have been described in small series from general hospitals. Almost all diagnosis had been made based on symptomatic patients. The aim of this study has been to determine the epidemiological, clinical and laboratorial characteristics of imported malaria in a Reference Unit for Tropical Diseases. PATIENTS AND METHODS: We performed a cross-sectional, observational and retrospective study. The series consisted of patients diagnosed of malaria who had been attended at the Hospital Carlos III from January 1, 2002 to December 31, 2007. RESULTS: We identified 484 episodes of malaria, of which 398 cases were included in the analysis. Almost 50% of the patients were natives of endemic areas, while the rest were native-travelers or travelers. Most cases (88-98% according to the group) had not taken malaria chemoprophylaxis correctly when indicated. At the time of diagnosis, 30.4% of patients were asymptomatic and 28.1% of asymptomatic patients had anemia, 19.8% thrombocytopenia, 14% leukopenia, 5% hypocholesterolemia, 5% renal failure and 4.1% hypoglycemia. Low parasitemia was present in 97.5% of asymptomatic individuals compared to 80.5% of the symptomatic patients (P<0.001). DISCUSSION: Absence of chemoprophylaxis (or poor compliance) is the main reason for malaria in individuals traveling to endemic areas. Malaria must be ruled out in individuals coming from tropical countries with compatible symptoms, and it also should be suspected in certain groups of asymptomatic individuals with abnormal laboratorial parameters.
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Malaria , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antimaláricos/uso terapéutico , Estudios Transversales , Emigrantes e Inmigrantes , Femenino , Humanos , Malaria/diagnóstico , Malaria/epidemiología , Malaria/prevención & control , Malaria/transmisión , Masculino , Cumplimiento de la Medicación , Persona de Mediana Edad , Plasmodium/aislamiento & purificación , Estudios Retrospectivos , España/epidemiología , Viaje , Adulto JovenRESUMEN
BACKGROUND: Anisakis simplex is a nematode which can parasitize humans, producing anisakiasis and can induce immunoglobulin-(Ig)-E-mediated allergic symptoms. Parasite recombinant proteins, such as the major allergen Ani s 1, may be useful tools to avoid misdiagnosis of A simplex allergy due to cross-reactivity when whole parasite extracts are used. OBJECTIVE: To obtain Ani s 1 allergen as a recombinant protein with IgE-binding properties similar to its natural counterpart. METHODS: Ani s 1-encoding cDNA was amplified by polymerase chain reaction and cloned. The allergen was expressed in Escherichia coli as a nonfusion protein. Natural and recombinant Ani s 1 were investigated by means of Western blotting, enzyme allergosorbent test, enzyme-linked immunosorbent assay (ELISA), and ELISA inhibition using sera from 53 patients with A simplex allergy. RESULTS: Residues of the amino acid sequence of the encoded protein were 99.4% identical to the reported one. Purified rAni s 1 was obtained with a yield of 2 mg/L of culture while the yield of the natural counterpart was only 50 micro/g of larvae. rAni s 1 reactivity was not significantly different from that of the natural allergen; the correlation was excellent (p = 0.92, P < .001). ELISA-inhibition experiments showed that the dose-response inhibition curve obtained with rAni s 1 overlapped with that of nAni s 1. In an enzyme allergosorbent analysis, 86.8% of the A simplex-allergic patient sera reacted to rAni s 1. CONCLUSION: Recombinant Ani s 1 is immunochemically equivalent to its natural counterpart and therefore might be useful for the in vitro diagnosis of anisakiasis and A simplex-mediated allergy.
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Alérgenos/biosíntesis , Alérgenos/genética , Anisakiasis/diagnóstico , Anisakis , Anticuerpos Antihelmínticos/inmunología , Antígenos Helmínticos/genética , Antígenos Helmínticos/inmunología , Proteínas Recombinantes/genética , Proteínas Recombinantes/inmunología , Alérgenos/inmunología , Animales , Anisakiasis/sangre , Anisakiasis/inmunología , Anticuerpos Antihelmínticos/sangre , Anticuerpos Antihelmínticos/genética , Antígenos Helmínticos/biosíntesis , Proteínas de Unión al Calcio/biosíntesis , Proteínas de Unión al Calcio/genética , Proteínas de Unión al Calcio/inmunología , ADN de Helmintos/genética , ADN de Helmintos/inmunología , Escherichia coli , Proteínas del Helminto/biosíntesis , Proteínas del Helminto/genética , Proteínas del Helminto/inmunología , Humanos , Hipersensibilidad Inmediata/diagnóstico , Hipersensibilidad Inmediata/parasitología , Inmunoquímica , Inmunoglobulina E/sangre , Inmunoglobulina E/genética , Proteínas Recombinantes/biosíntesisRESUMEN
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the thymidine phosphorylase gene (ECGF1). We present the first detailed report of a Brazilian MNGIE patient, harboring a novel ECGF1 homozygous mutation (C4202A, leading to a premature stop codon, S471X). Multiple deletions and the T5814C change were found in mitochondrial DNA. Together with gastrointestinal symptoms, endocrine involvement and memory dysfunction, not reported in MNGIE to date, were the most preeminent features.
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Trastornos del Conocimiento/genética , Enfermedades Gastrointestinales/genética , Hipogonadismo/genética , Encefalomiopatías Mitocondriales/complicaciones , Encefalomiopatías Mitocondriales/genética , Mutación/genética , Timidina Fosforilasa/genética , Adulto , Encéfalo/enzimología , Encéfalo/patología , Encéfalo/fisiopatología , Brasil , Codón sin Sentido/genética , Trastornos del Conocimiento/enzimología , Trastornos del Conocimiento/fisiopatología , Análisis Mutacional de ADN , ADN Mitocondrial/genética , Enfermedades Gastrointestinales/enzimología , Enfermedades Gastrointestinales/fisiopatología , Eliminación de Gen , Marcadores Genéticos/genética , Humanos , Hipogonadismo/enzimología , Hipogonadismo/fisiopatología , Masculino , Trastornos de la Memoria/genética , Trastornos de la Memoria/metabolismo , Trastornos de la Memoria/fisiopatología , Encefalomiopatías Mitocondriales/psicologíaRESUMEN
INTRODUCTION: Mitochondrial encephalopathy, lactic acidosis and cerebrovascular accident syndrome (MELAS) is, from the clinical point of view, one of the best studied mitochondrial multisystemic disorders. This disease has mainly been associated to the mitochondrial desoxyribonucleic acid (mtDNA) mutation A3243G located in the tRNALeu(UUR) gene. Although a relation between European haplogroups and the presence of the 3243 mutation has not been described, nothing is known about the presence of this mutation in native American haplogroups. CASE REPORT: A 12 year-old female Mexican patient diagnosed with MELAS is reported. Besides neurological, biochemical and cytological examination, we also analyzed the particular mtDNA mutations related to MELAS and the whole genome was sequenced to determine the mitochondrial haplogroup. The A3243G mutation was detected in the patient and maternal relatives (mother and siblings, all of them asymptomatic). The genotype corresponds to the native American haplogroup B2 and contains two private non-synonymous polymorfisms. CONCLUSION: All the members of the family studied present different percentage of the A3243G mutation, being the patient who presented the highest value. The mtDNA genotype corresponds to the native American haplogroup B2 and the private polymorphisms do not confer any phenotypic modification in MELAS syndrome.
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ADN Mitocondrial/genética , Indígenas Norteamericanos/genética , Síndrome MELAS/genética , Mutación , ARN de Transferencia de Leucina/genética , Niño , Femenino , Humanos , LinajeRESUMEN
INTRODUCTION: Kearns-Sayre syndrome (KSS) is a mitochondrial disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, onset before 20 years, and ragged-red fibers on muscle biopsy. KSS has been associated to mitochondrial DNA (mtDNA) mutations. We report neurological manifestations and mtDNA deletions in KSS. METHODS: Six KSS patients underwent neurological examination, biochemical analysis (muscle enzymes, lactate, cerebrospinal fluid analysis), electromicrography, muscle biopsy (Gomori stain, electronic microscopy), electrocardiogram, echocardiography, MRI/CT scan. MtDNA deletions were studied in blood and muscle samples using Southern blotting and long polymerase chain reaction. RESULTS: Four males and two females (mean age: 27.7 years; range: 17-42; mean age at onset: 8.2 years) were studied. Initial symptoms were ptosis and gaze restriction, fatigue, exercise intolerance and proximal limb weakness. Syncope and neurosensory hypoacusia were initial symptoms in two patients. All of them presented a unique deletion in the mitochondrial genome, in heteroplasmy, and their size was in the range of 4,420 and 9,437 basis pairs. Three of these deletions are reported for the first time in this article. Most of the deletions are flanked by small direct repeats elements. CONCLUSIONS: Proximal muscle weakness and fatigue appear frequently in KSS patients during follow up. The syndrome in these patients has been caused by mtDNA deletions.
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ADN Mitocondrial/genética , Eliminación de Gen , Síndrome de Kearns-Sayre/genética , Adolescente , Adulto , Secuencia de Bases , Encéfalo/patología , Análisis Mutacional de ADN , Femenino , Humanos , Síndrome de Kearns-Sayre/patología , Síndrome de Kearns-Sayre/fisiopatología , Masculino , Datos de Secuencia Molecular , Músculo Esquelético/patologíaRESUMEN
AIM: The diseases of the oxidative phosphorylation system consist of a group of disorders originated by a deficient synthesis of adenosine triphosphate (ATP). These diseases are increasingly being diagnosed among patients with multisystemic disorders. Mitochondrial deoxyribonucleic acid (mtDNA) mutations are usually maternally inherited, but they also can be sporadic or secondary to nuclear mutations, that are inherited in a Mendelian mode, or due to environmental hazards. In this review we will update, from a genetic point of view, the knowledge on human mitochondrial diseases, remarking the difficulties to study these pathologies. DEVELOPMENT: To mirror these difficulties, we will use selected examples of mutations in the mitochondrial genome, and review recent advances on mitochondrial pathology due to mutations in the nuclear genes codifying for mitochondrial proteins that participate in a good performance of the oxidative phosphorylation system. CONCLUSIONS: Sequencing of the complete human mtDNA should be part of the basic profile in the study of mitochondrial diseases. Due to the increasing number of nuclear genes involved in the oxidative phosphorylation system performance, their analysis should be based on solid biochemical clues.
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Enfermedades Mitocondriales/metabolismo , Fosforilación Oxidativa , ADN Mitocondrial/genética , Humanos , Enfermedades Mitocondriales/genética , MutaciónRESUMEN
La enfermedad celiaca constituye una enfermedad autoinmune de gran relevancia en la edad pediátrica y, aunque se desconoce como se pone en marcha su desarrollo en pacientes geneticamente predispuestos, se postula que, entre otros, los factores fetales podrían tener influencia sobre el desarrollo posterior de esta enfermedad. Presentamos el caso de una niña con retraso del crecimiento intrauterino cuya madre sufrió una infección vírica durante la gestación, y que más tarde desarrolló enfermed celiaca. Especulamos con la posibilidad de que la infección viral durante la gestación pudiera haber sido la causante del retraso del crecimiento intrauterino y del desarrollo de la enfermedad celiaca. La similitud existente entre los antígenos víricos y la gliadina explicarían que una exposición intraútero a dichos antígenos virales sensibilizara fentre a la gliadina. Y posteriormente la, exposición al gluten a, partir de su introducción en la dieta, pondría en marcha el resto de los mecanismos de la enfermedad
Celiac disease is an autoimmune disease that has important consequences during childhood. Although the factors that trigger its development in genetically predisposed patients are unknown, it is thought that fetal factors, among others, could play a role in the later development of the disease. We report the case of a girl who presented intrauterine growth retardation and was later diagnosed as having celiac disease. Her mother had had a viral infection during pregnancy and we speculate that this circumstance could have caused both the intrauterine growth retardation and the development of celiac disease. The similarity between viral antigens and gliadin could explain why intrauterine exposure to those antigens would produce sensitization to gliadin and, thus, a later exposure to gluten, when introduced in to the diet, would trigger the mechanisms of the disease
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Femenino , Embarazo , Humanos , Retardo del Crecimiento Fetal/etiología , Enfermedad Celíaca/complicaciones , Enfermedades Transmisibles/complicaciones , Exantema/complicaciones , Gliadina/análisisRESUMEN
No disponible
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Lactante , Humanos , Preescolar , Niño , Femenino , Accidentes , Vidrio , Pubertad Precoz , Pubertad Precoz , Prevención de Accidentes , Adopción , China , Países en DesarrolloAsunto(s)
Pubertad Precoz , Adopción , Niño , China , Países en Desarrollo , Femenino , Humanos , Pubertad Precoz/diagnósticoRESUMEN
OBJECTIVES: To identify the prescription profile for anti-ulcerous and hypolipemic drugs during the three-year period 1994-1996 in the Jerez Primary Care district, and the differences in prescription between the reformed (Health Centres) and the unreformed networks (non-hospital clinics). DESIGN: Longitudinal, retrospective study, out of a complete sample. SETTING: Primary Care. PARTICIPANTS: Total number of general medical consultations. MEASUREMENTS AND MAIN RESULTS: The first quarter of each year was studied. Dose per 1,000 inhabitants per day (DID) was the indicator. Consumption of anti-ulcer drugs grew from 11.43 DID in 1994 to 15 in 1996 (31.23%). In the reformed network, consumption grew from 10.25 to 13.26 DID (29.37%); and in the non-reformed, from 12.56 to 16.72 DID (33.12%). Hypolipemic use went up from 8 DID in 1994 to 10.32 in 1996 (29%). CONCLUSIONS: Anti-ulcer and hypolipemic drug use increased over the study period. Both consumption and increases were lower in Health Centres. Increase in statin use led to a light decline in fibrate use in the reformed network, but not in non-hospital clinics.