RESUMEN
Frailty is a clinical situation of decreased homeostatic reserve that, after a minor trigger (acute illness, fall, taking a drug...) increases the risk of an adverse event such as hospital admission, institutionalization, functional and/or cognitive decline, death, etc. Frailty can be understood as physical frailty, Fried's phenotype, a true geriatric syndrome that can be reversible by avoiding its progression to more advanced stages of irreversibility and dependence, and Rockwood's frailty due to accumulation of deficits, as a continuum of health or classification typology of the elderly along the frailty spectrum (healthy, robust, vulnerable, mild-moderate-severe and extreme frailty or end of life). The diagnosis of physical frailty is part of the comprehensive geriatric assessment, recommending the use of a performance test such as gait speed (<0,8m/s), Timed Up and Go (>12 s) or Short Physical Performance Battery (<10). Physical frailty is reversible by a multidisciplinary management based on three fundamental pillars: multicomponent physical exercise and resistance training, adequate protein and micronutrient intake (leucine, vitamin D, etc.) and appropriate pharmacological prescription, management of comorbidity and geriatric syndromes. Frailty is a risk factor for neurological disease progression and increased risk of adverse events in neurodegenerative diseases such as mild cognitive impairment, dementia, Parkinson's disease and cerebrovascular disease. Frailty based on the Clinical Frailty Scale or VIG-Frail shows patient typologies in relation to a greater or lesser state of fragility, being a basic prognostic tool of great utility in making diagnostic and therapeutic management decisions. It opens up a new opportunity for improvement in the management of neurological disease in the diagnosis and treatment of frailty.
TITLE: Concepto y manejo práctico de la fragilidad en neurología.La fragilidad se entiende como un situación clínica de disminución de la reserva homeostática que, ante un desencadenante (enfermedad aguda, caída, toma de un fármaco...), aumenta el riesgo de un evento adverso, como ingreso hospitalario, en residencia, deterioro funcional y/o cognitivo, muerte, etc. La fragilidad puede entenderse como fragilidad física, fenotipo de Fried, verdadero síndrome geriátrico, que puede ser reversible evitando su progresión a estadios más avanzados de irreversibilidad y de dependencia, y fragilidad por acúmulo de déficits de Rockwood, como continuum de salud o tipología de clasificación del anciano a lo largo del espectro de la fragilidad (sano, robusto, vulnerable, fragilidad leve-moderada-grave y extrema o final de vida). El diagnóstico de fragilidad física forma parte de la valoración geriátrica integral y se recomienda para su diagnóstico utilizar un test de ejecución, como velocidad de la marcha (menor de 0,8 m/s), Timed Up and Go (>12 segundos) o Short Physical Performance Battery (menor de 10). La fragilidad física es reversible basándose en un tratamiento multidisciplinar sobre tres pilares fundamentales: ejercicio físico multicompetente y contra resistencia, aporte adecuado de proteínas y micronutrientes (leucina, vitamina D, etc.), y adecuada prescripción farmacológica, de tratamiento de comorbilidad y de síndromes geriátricos. La fragilidad es un factor de riesgo de progresión de la enfermedad neurológica y de mayor riesgo de evento adverso tanto en enfermedades neurodegenerativas, como el deterioro cognitivo leve, la demencia o la enfermedad de Parkinson, como en la enfermedad cerebrovascular. La fragilidad a través de la Clinical Frailty Scale o el VIG-Frail muestra tipologías de pacientes en relación con un mayor o menor estado de fragilidad, y es una herramienta básica pronóstica de gran utilidad en la toma de decisiones de manejo diagnóstico y terapéutico. Se abre una nueva oportunidad de mejora en el manejo de la enfermedad neurológica ante el diagnóstico y el tratamiento de la fragilidad.
Asunto(s)
Fragilidad , Neurología , Humanos , Anciano , Fragilidad/diagnóstico , Fragilidad/terapia , Anciano Frágil , Estado de Salud , Evaluación GeriátricaRESUMEN
INTRODUCTION: Neonatal persistent pulmonary hypertension (NPPH) is characterised by persistently high pulmonary vascular resistance (PVR). Sildenafil has recently been suggested as an alternative to or an associative therapy with inhaled nitric oxide (iNO) to reduce mortality (10-40%) and morbidity (major neurologic disabilities among surviving newborns remains approximately 15-60%). The objective is to report three cases of NPPH treated with sildenafil in association of iNO. CASE REPORTS: Echocardiography examination of three newborn babies with respiratory distress syndrome and a gestational age between 33 and 39 weeks revealed pulmonary hypertension following early onset sepsis. Synchronized intermittent mandatory ventilation (SIMV) and surfactant therapy had no effect on oxygen saturation (SatO2) and oxygen alveolar-arterial difference (AaDO2). High frequency oscillatory ventilation (HFOV) and iNO therapy proved to be equally ineffective. Oral sildenafil was administered at 2 mg/Kg/6 hs. A gradual but significant improvement in oxygenation was achieved and a reduction in AaDO2 along with oxygenation index (OI) and pulmonary arterial pressure (PAP) was observed in the first 6-10 hrs after administration of sildenafil. The therapy was maintained for 36-48 hrs with total success. CONCLUSIONS: A beneficial pulmonary vasodilator effect was obtained in treating NPPH with sildenafil where conventional methods had failed. Sildenafil used in association with iNO reduces the duration of treatment, the quantity of iNO normally required and the associated toxic effects. A multicentric, randomized trial could be useful in demonstrating the safety, efficacy, doses and forms of administration of sildenafil.
Asunto(s)
Broncodilatadores/administración & dosificación , Óxido Nítrico/administración & dosificación , Síndrome de Circulación Fetal Persistente/tratamiento farmacológico , Piperazinas/uso terapéutico , Sulfonas/uso terapéutico , Vasodilatadores/uso terapéutico , Administración por Inhalación , Humanos , Recién Nacido , Recien Nacido Prematuro , Oxígeno/administración & dosificación , Síndrome de Circulación Fetal Persistente/diagnóstico , Síndrome de Circulación Fetal Persistente/etiología , Piperazinas/administración & dosificación , Purinas/administración & dosificación , Purinas/uso terapéutico , Estudios Retrospectivos , Citrato de Sildenafil , Sulfonas/administración & dosificación , Factores de Tiempo , Resultado del Tratamiento , Vasodilatadores/administración & dosificaciónRESUMEN
La fragilidad se entiende como un situación clínica de disminución de la reserva homeostática que, ante un desencadenante (enfermedad aguda, caída, toma de un fármaco...), aumenta el riesgo de un evento adverso, como ingreso hospitalario, en residencia, deterioro funcional y/o cognitivo, muerte, etc. La fragilidad puede entenderse como fragilidad física, fenotipo de Fried, verdadero síndrome geriátrico, que puede ser reversible evitando su progresión a estadios más avanzados de irreversibilidad y de dependencia, y fragilidad por acúmulo de déficits de Rockwood, como continuum de salud o tipología de clasificación del anciano a lo largo del espectro de la fragilidad (sano, robusto, vulnerable, fragilidad leve-moderada-grave y extrema o final de vida). El diagnóstico de fragilidad física forma parte de la valoración geriátrica integral y se recomienda para su diagnóstico utilizar un test de ejecución, como velocidad de la marcha (<0,8 m/s), Timed Up and Go (>12 segundos) o Short Physical Performance Battery (<10). La fragilidad física es reversible basándose en un tratamiento multidisciplinar sobre tres pilares fundamentales: ejercicio físico multicompetente y contra resistencia, aporte adecuado de proteínas y micronutrientes (leucina, vitamina D, etc.), y adecuada prescripción farmacológica, de tratamiento de comorbilidad y de síndromes geriátricos. La fragilidad es un factor de riesgo de progresión de la enfermedad neurológica y de mayor riesgo de evento adverso tanto en enfermedades neurodegenerativas, como el deterioro cognitivo leve, la demencia o la enfermedad de Parkinson, como en la enfermedad cerebrovascular. La fragilidad a través de la Clinical Frailty Scale o el VIG-Frail muestra tipologías de pacientes en relación con un mayor o menor estado de fragilidad, y es una herramienta básica pronóstica de gran utilidad en la toma de decisiones de manejo diagnóstico y terapéutico. Se abre una nueva oportunidad de mejora en el manejo de la enfermedad...(AU)
Frailty is a clinical situation of decreased homeostatic reserve that, after a minor trigger (acute illness, fall, taking a drug...) increases the risk of an adverse event such as hospital admission, institutionalization, functional and/or cognitive decline, death, etc. Frailty can be understood as physical frailty, Frieds phenotype, a true geriatric syndrome that can be reversible by avoiding its progression to more advanced stages of irreversibility and dependence, and Rockwoods frailty due to accumulation of deficits, as a continuum of health or classification typology of the elderly along the frailty spectrum (healthy, robust, vulnerable, mild-moderate-severe and extreme frailty or end of life). The diagnosis of physical frailty is part of the comprehensive geriatric assessment, recommending the use of a performance test such as gait speed (<0,8m/s), Timed Up and Go (>12 s) or Short Physical Performance Battery (<10). Physical frailty is reversible by a multidisciplinary management based on three fundamental pillars: multicomponent physical exercise and resistance training, adequate protein and micronutrient intake (leucine, vitamin D, etc.) and appropriate pharmacological prescription, management of comorbidity and geriatric syndromes. Frailty is a risk factor for neurological disease progression and increased risk of adverse events in neurodegenerative diseases such as mild cognitive impairment, dementia, Parkinsons disease and cerebrovascular disease. Frailty based on the Clinical Frailty Scale or VIG-Frail shows patient typologies in relation to a greater or lesser state of fragility, being a basic prognostic tool of great utility in making diagnostic and therapeutic management decisions. It opens up a new opportunity for improvement in the management of neurological disease in the diagnosis and treatment of frailty.(AU)
Asunto(s)
Humanos , Masculino , Femenino , Anciano , Fragilidad , Anciano Frágil , Salud del Anciano , Esperanza de Vida , Neurología , Enfermedades del Sistema NerviosoRESUMEN
Background. Chronic neonatal pain can lead to long-term adverse effects on the immature brain. EDIN scale for prolonged pain might not be fully suitable for premature infants. We aimed to test a modified EDIN scale, adding postmenstrual age (PMA) as a sixth item (EDIN6). Methods. In a two-phase prospective study, pain was assessed in all neonates admitted in our NICU. In T1 EDIN was applied; in T2 EDIN6 with additional scores of 2, 1, and 0, respectively, for 25-32, 33-37, and >37 weeks PCA was tested. Scores > 6 suggested pain. The nursing staff was given a questionnaire to evaluate EDIN and EDIN6. Results. A total of 15960 pain assessments were recorded (8693 in T1; 7267 in T2). With EDIN6, cumulative detection of pain almost tripled (117/7267 versus 52/8693, p = 0.001). Main differences were found among less mature categories (50/1472 versus 17/1734, p = 0.001 in PCA 25-32; 26/2606 versus 10/4335, p = 0.001 in PMA 33-37; 41/3189 versus 25/2624, p = 0.26 in PMA > 37). Adequacy of pain assessment in lower PMA was judged "medium-high" in 13,4% of nurses in T1 and 71,4% in T2. Conclusions. EDIN6 may allow improved evaluation of pain in preterm infants.
Asunto(s)
Edad Gestacional , Recien Nacido Prematuro/fisiología , Dimensión del Dolor/métodos , Demografía , Encuestas de Atención de la Salud , Humanos , Recién Nacido , Personal de Enfermería/estadística & datos numéricos , Estudios ProspectivosRESUMEN
We report on a 20-month-old boy with skull malformations and motor delays. A diagnosis of Saethre-Chotzen syndrome was made in view of the clinical and neuroradiological signs. Other unusual findings were trigonocephaly and occipital dysplasia with medial schisis at the foramen occipitalis. The mother showed a mild expression of the syndrome.
Asunto(s)
Acrocefalosindactilia/diagnóstico , Cráneo/anomalías , Acrocefalosindactilia/genética , Adulto , Enfermedades del Desarrollo Óseo/diagnóstico , Consanguinidad , Dermatoglifia , Diagnóstico Diferencial , Femenino , Cabeza/diagnóstico por imagen , Humanos , Lactante , Masculino , Tomografía Computarizada por Rayos XRESUMEN
The effectiveness of a new alpha-blocking agent with additional mechanism of action was evaluated during intraoperative hypertensive crises. Urapidil was administered both in bolus form and as a continuous infusion in order to compare the two routes of delivery. During the study systolic, diastolic, mean pressure and heart rate were measured, and results were evaluated using statistical methods. The study showed that urapidil clearly possesses a rapid (bolus route) and long-lasting (continuous infusion) hypotensive function. In conclusion, given its efficacy in hypertensive crises and the absence of side-effects in this study. Urapidil may be considered one of the best choices during intraoperative hypertension crises.
Asunto(s)
Antihipertensivos/uso terapéutico , Hipertensión/tratamiento farmacológico , Complicaciones Intraoperatorias/tratamiento farmacológico , Piperazinas/uso terapéutico , Procedimientos Quirúrgicos Vasculares , Anciano , Urgencias Médicas , Femenino , Humanos , Infusiones Intravenosas , Inyecciones Intravenosas , Masculino , Persona de Mediana EdadRESUMEN
Twenty patients with viral encephalitis were studied retrospectively. Among these, in 2 cases, it was possible to formulate the diagnosis of encephalitis with viral replication by herpes virus on the basis of finding of cerebrospinal fluid IgM, serum and/or cerebrospinal fluid specific antibody rate movement and TC-scan necrotic lesions in typical sites. In 18 of 20 patients it was formulated the generic diagnosis of encephalitis without evidence of viral replication. Among these last 18 patients, 7 were considered affected by post-infective encephalitis on the basis of the anamnestic finding of the causing disease within 30 days from the appearance of the first symptoms. Into the 11 other the etiology was anamnestically hidden. The outcome was essentially favourable in the considered cases (16/20 complete recoveries). Poor outcome factors were considered the presence of herpetic infection and TC-scan alterations into the group of encephalitis without evidence of viral replication in association of anamnestic finding of measles.
Asunto(s)
Herpes Simple , Meningoencefalitis , Enfermedad Aguda , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Meningoencefalitis/diagnóstico , Meningoencefalitis/etiología , Meningoencefalitis/fisiopatología , Estudios RetrospectivosAsunto(s)
Quemaduras/epidemiología , Adolescente , Adulto , Anciano , Unidades de Quemados/estadística & datos numéricos , Quemaduras/etiología , Niño , Preescolar , Femenino , Humanos , Lactante , Italia , Masculino , Persona de Mediana EdadRESUMEN
To evaluate the action of lysine acetylsalicylate in controlling post-operative pain a controlled double blind clinical trial was carried out in thirty patients subjected to surgical procedures on the upper gastrointestinal tract. The results or the trial support analgesic properties of the drug in the postoperative period and the absence of relevant untoward effects. The low toxicity and the absence of the side effects typical to narcotic analgesics suggest to study the analgesic effects of ASL with higher dosage schedules or different administrations in order to increase the analgesic potency of the drug in the post-operative period.
Asunto(s)
Aspirina/análogos & derivados , Lisina/análogos & derivados , Dolor Postoperatorio/tratamiento farmacológico , Pentazocina/uso terapéutico , Abdomen/cirugía , Adulto , Aspirina/uso terapéutico , Ensayos Clínicos como Asunto , Femenino , Humanos , Lisina/uso terapéutico , Masculino , Persona de Mediana Edad , Distribución AleatoriaRESUMEN
The rate of red-cell metabolism of pyridoxine to pyridoxal phosphate was measured in control subjects and patients with homozygous and heterozygous beta-thalassaemia from Ferrara, Northern Italy, and in British control subjects of Anglo-Saxon origin. A high incidence of a slow rate of B6 metabolism was found in beta-thalassaemia in Ferrara similar to that found previously in Cypriots living in London. Of particular interest was a much slower rate in control subjects from Ferrara than in British control subjects of Anglo-Saxon origin. The suggestion that a high incidence of a slow red-cell metabolism of B6 is the result of selection by malaria, whether associated with thalassaemia or not, is considered.
Asunto(s)
Eritrocitos/metabolismo , Piridoxina/sangre , Talasemia/sangre , Chipre/etnología , Femenino , Humanos , Italia , Londres , Malaria/etiología , Masculino , Reino UnidoRESUMEN
The allele frequencies for beta-thalassemia for 51 localities in the province of Rovigo, and in 25 localities in the province of Ferrara, were studied. It was observed that in the province of Ferrara there is a significant cline of frequencies; these decrease from the coast of the Adriatic Sea toward the west. No such gradient was visible in Rovigo. It was advanced, also on the basis of geography documented by ancient maps, that in the province of Rovigo there were multiple foci of selection for the thalassemia gene, and that in the province of Ferrara selection was stronger in the Oriental part of the area. Examination of the isolation by distance model with these data showed that the Malécot-Morton model fits for the Ferrara data and geography, whereas it does not for Rovigo.
Asunto(s)
Talasemia/genética , Alelos , Niño , Frecuencia de los Genes , Marcadores Genéticos , Genética de Población , Geografía , Heterocigoto , Humanos , Italia , Modelos Genéticos , Talasemia/epidemiologíaRESUMEN
In subjects carrying the haemoglobin Hasharon mutation (alpha 47 replaced by His), originally from the delta of the Po river (Northern Italy), the concentration of the alpha-globin variant has been evaluated and found to be approximately 32%, a value definitely higher than that reported for the same mutant haemoglobin in other regions. Restriction enzyme analysis has been carried out on the DNA from these subjects; the data obtained indicate the presence of three alpha-globin genes per diploid cell. Family studies further show that the two normal genes are located on one chromosome and the Hasharon gene on the other. The origin of the single alpha-gene in the Hasharon-carrying subjects of the Ferrara region is discussed in connection with their haematological and biosynthetic data.
Asunto(s)
ADN , Genes , Globinas/biosíntesis , Hemoglobinas Anormales/biosíntesis , Biosíntesis de Proteínas , Ácido Aspártico , ADN/sangre , Enzimas de Restricción del ADN , Histidina , Humanos , Italia , JudíosRESUMEN
The present work reports a study of nine genetic polymorphic systems in the area of the Po Delta where malaria was endemic since the XIV century. Our data confirm some characteristics of this population already reported by other authors such as the high prevalence of thalassemia, the low prevalence of the rh (d) gene and the presence of G-6-PD deficiency. Among the other systems studied, i.e., AP, PGM1 ADA and AK, only AP frequencies of Po Delta population are significantly different from those of other continental Italian populations, the PC allele showing the lowest frequency so far observed.
Asunto(s)
Polimorfismo Genético , Fosfatasa Ácida , Antígenos de Grupos Sanguíneos , Frecuencia de los Genes , Deficiencia de Glucosafosfato Deshidrogenasa/genética , Humanos , Italia , Fenotipo , Talasemia/genéticaRESUMEN
OBJECTIVES: SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype-phenotype correlation to clarify the role of this gene in the etiology of SMEI. METHODS: All patients fulfilled the criteria for SMEI. The authors analyzed all patients for SCN1A mutations using denaturing high performance liquid chromatography. If a patient's chromatogram was abnormal, the authors sequenced the gene in the patient and both parents. RESULTS: SCN1A mutations were identified in 33 patients (35%). Most mutations were de novo, but were inherited in three patients. Parents carrying the inherited mutations had either no symptoms or a milder form of epilepsy. A greater frequency of unilateral motor seizures was the only clinical difference between patients with SCN1A mutations and those without. Truncating mutations were more frequently associated with such seizures than were missense mutations. The percentage of cases with family history of epilepsy was significantly higher in patients with SCN1A mutations. CONCLUSIONS: Unilateral motor seizures may be a specific clinical characteristic of SMEI caused by SCN1A mutations. Ten percent of SCN1A mutations are inherited from an asymptomatic or mildly affected parent, suggesting that SMEI is genetically heterogeneous. The increased frequency of familial epilepsy indicates that other genetic factors may contribute to this disorder.