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1.
Rev Neurol ; 74(12): 403-407, 2022 06 16.
Article in Spanish | MEDLINE | ID: mdl-35698435

ABSTRACT

INTRODUCTION: Cadmium is an important heavy metal in neurobiology, with potential neurotoxic effects, often in the form of polyneuropathy (PNP). CASE REPORT: We present an exceptional case of PNP due to cadmium of toxic-occupational origin, specifically a 47-year-old man, aeronautical mechanic, with a 5-year clinical picture, consisting of a tingling sensation having a 'glove and stocking' distribution of symptoms and bimanual manipulative clumsiness. The neurological examination revealed bilateral achilles hyporeflexia and protopathic-thermal-algesic exteroceptive hypoesthesia in hands and feet. The following complementary rests were requested: toxic-metabolic-infectious-vitamin profile, full craniospinal MRI, electroneurographic-electromyographic study (ENG-EMG) of the upper and lower limbs, PET-CT body and 24-hour video-electroencephalogram. The results were consistent with an axonal, distal, symmetric sensory-motor PNP, of moderate intensity, chronic evolution, with active denervation, of toxic-occupational origin due to cadmium. The patient continued on sick leave to cease exposure to cadmium, initiating intensive multimodal neurorehabilitation program, with serial analytical determinations of toxins and new ENG-EMG studies every 6 months. With normalization of the altered values ??and complete clinical restitution at one-year follow-up. CONCLUSIONS: This case highlights the importance of including the toxicological determination of cadmium in case of suspicion of a PNP of toxic-occupational origin, once ruled out other etiologies, in order to early interrupt occupational exposure, as it is a potentially reversible cause of peripheral neuropathy. Currently there is no specific pharmacological treatment against cadmium tested in humans. Randomized clinical trials carried out in these patients are warranted to develop an anti-cadmium drug in refractory cases despite the end of exposure.


TITLE: Polineuropatía por cadmio: una causa infrecuente, pero no menos importante, de neuropatía periférica.Introducción. El cadmio es un metal pesado importante en neurobiología, con potenciales efectos neurotóxicos, frecuentemente en forma de polineuropatía. Caso clínico. Presentamos un caso excepcional de polineuropatía por cadmio de origen tóxico-ocupacional, en concreto, un varón de 47 años, mecánico aeronáutico, con un cuadro de cinco años de evolución, consistente en sensación de hormigueo 'en guante y calcetín' y torpeza manipulativa bimanual. En la exploración destacaba una hiporreflexia aquílea bilateral, y una hipoestesia exteroceptiva protopático-térmico-algésica en las manos y los pies. Se solicitó analítica general completa con perfil tóxico-metabólico-infeccioso-vitamínico, resonancia magnética craneomedular completa, estudio electroneurográfico-electromiográfico de los miembros superiores e inferiores, tomografía por emisión de positrones-tomografía axial computarizada body y videoelectroencefalograma de 24 horas. Los resultados fueron compatibles con una polineuropatía sensitivomotora axonal, distal, simétrica, de intensidad moderada, de evolución crónica y desnervación activa, de origen tóxico-ocupacional por cadmio. El paciente prosiguió la baja laboral para cesar la exposición al cadmio, iniciando neurorrehabilitación intensiva multimodal, y determinaciones analíticas seriadas de tóxicos y nuevos estudios electroneurográficos-electromiográficos cada seis meses, con normalización de los valores alterados y restitución clínica ad integrum al año. Conclusiones. Este caso enfatiza la importancia de incluir la determinación toxicológica del cadmio ante la sospecha de una polineuropatía de origen tóxico-ocupacional, descartadas otras etiologías, para interrumpir precozmente dicha exposición laboral, al ser una causa potencialmente reversible de neuropatía periférica. Actualmente no existe un tratamiento farmacológico específico frente al cadmio demostrado en seres humanos. Urgen ensayos clínicos aleatorizados en estos pacientes, para desarrollar un fármaco frente al cadmio en casos refractarios pese a finalizar la exposición.


Subject(s)
Occupational Exposure , Peripheral Nervous System Diseases , Polyneuropathies , Cadmium/toxicity , Humans , Male , Middle Aged , Peripheral Nervous System Diseases/chemically induced , Polyneuropathies/chemically induced , Polyneuropathies/complications , Positron Emission Tomography Computed Tomography/adverse effects
2.
Rev. neurol. (Ed. impr.) ; 74(12): 403-407, Jun 16, 2022.
Article in Spanish | IBECS | ID: ibc-217708

ABSTRACT

Introducción: El cadmio es un metal pesado importante en neurobiología, con potenciales efectos neurotóxicos, frecuentemente en forma de polineuropatía. Caso clínico: Presentamos un caso excepcional de polineuropatía por cadmio de origen tóxico-ocupacional, en concreto, un varón de 47 años, mecánico aeronáutico, con un cuadro de cinco años de evolución, consistente en sensación de hormigueo ‘en guante y calcetín’ y torpeza manipulativa bimanual. En la exploración destacaba una hiporreflexia aquílea bilateral, y una hipoestesia exteroceptiva protopático-térmico-algésica en las manos y los pies. Se solicitó analítica general completa con perfil tóxico-metabólico-infeccioso-vitamínico, resonancia magnética craneomedular completa, estudio electroneurográfico-electromiográfico de los miembros superiores e inferiores, tomografía por emisión de positrones-tomografía axial computarizada body y videoelectroencefalograma de 24 horas. Los resultados fueron compatibles con una polineuropatía sensitivomotora axonal, distal, simétrica, de intensidad moderada, de evolución crónica y desnervación activa, de origen tóxico-ocupacional por cadmio. El paciente prosiguió la baja laboral para cesar la exposición al cadmio, iniciando neurorrehabilitación intensiva multimodal, y determinaciones analíticas seriadas de tóxicos y nuevos estudios electroneurográficos-electromiográficos cada seis meses, con normalización de los valores alterados y restitución clínica ad integrum al año. Conclusiones: Este caso enfatiza la importancia de incluir la determinación toxicológica del cadmio ante la sospecha de una polineuropatía de origen tóxico-ocupacional, descartadas otras etiologías, para interrumpir precozmente dicha exposición laboral, al ser una causa potencialmente reversible de neuropatía periférica. Actualmente no existe un tratamiento farmacológico específico frente al cadmio demostrado en seres humanos.(AU)


Introduction: Cadmium is an important heavy metal in neurobiology, with potential neurotoxic effects, often in the form of polyneuropathy (PNP). Case report: We present an exceptional case of PNP due to cadmium of toxic-occupational origin, specifically a 47-year-old man, aeronautical mechanic, with a 5-year clinical picture, consisting of a tingling sensation having a ‘glove and stocking’ distribution of symptoms and bimanual manipulative clumsiness. The neurological examination revealed bilateral achilles hyporeflexia and protopathic-thermal-algesic exteroceptive hypoesthesia in hands and feet. The following complementary rests were requested: toxic-metabolic-infectious-vitamin profile, full craniospinal MRI, electroneurographic-electromyographic study (ENG-EMG) of the upper and lower limbs, PET-CT body and 24-hour video-electroencephalogram. The results were consistent with an axonal, distal, symmetric sensory-motor PNP, of moderate intensity, chronic evolution, with active denervation, of toxic-occupational origin due to cadmium. The patient continued on sick leave to cease exposure to cadmium, initiating intensive multimodal neurorehabilitation program, with serial analytical determinations of toxins and new ENG-EMG studies every 6 months. With normalization of the altered values ​​and complete clinical restitution at one-year follow-up. Conclusions: This case highlights the importance of including the toxicological determination of cadmium in case of suspicion of a PNP of toxic-occupational origin, once ruled out other etiologies, in order to early interrupt occupational exposure, as it is a potentially reversible cause of peripheral neuropathy. Currently there is no specific pharmacological treatment against cadmium tested in humans. Randomized clinical trials carried out in these patients are warranted to develop an anti-cadmium drug in refractory cases despite the end of exposure.(AU)


Subject(s)
Humans , Male , Middle Aged , Polyneuropathies , Cadmium , Peripheral Nervous System Diseases , Positron Emission Tomography Computed Tomography , Neurology , Nervous System Diseases
4.
Eur J Neurol ; 27(11): 2336-2347, 2020 11.
Article in English | MEDLINE | ID: mdl-32777152

ABSTRACT

BACKGROUND AND PURPOSE: The present systematic review and meta-analysis aims to establish the possible value of cerebrospinal fluid (CSF) and serum/plasma levels of amino acids as markers of Parkinson's disease (PD). METHODS: This is a review of four databases (PubMed, Embase, MEDLINE and Web of Science - Core Collection) from 1966 to 14 March 2020, with identification of references of interest for the topic. The meta-analysis of eligible studies was done using R software package meta, following the PRISMA and MOOSE guidelines. RESULTS: Compared with age- and sex-matched controls, PD patients showed decreased CSF levels of glutamate and taurine and increased CSF levels of tyrosine; decreased serum/plasma levels of aspartate, serine, tryptophan and lysine, and increased serum/plasma proline and homocysteine levels. CONCLUSION: Despite the limitations of this study due to the important variability of results between different series, our findings suggest the value of CSF or serum/plasma levels of several amino acids in the discrimination of PD patients from healthy subjects, related to the levels of some amino acids.


Subject(s)
Parkinson Disease , Amino Acids , Biomarkers , Humans , Parkinson Disease/diagnosis
6.
Front Psychol ; 9: 334, 2018.
Article in English | MEDLINE | ID: mdl-29615943

ABSTRACT

The aim of this study was to analyze the verbal behavior of primary school physical education teachers in a natural classroom setting in order to investigate patterns in social constructivist communication strategies before and after participation in a training program designed to familiarize teachers with these strategies. The participants were three experienced physical education teachers interacting separately with 65 students over a series of classes. Written informed consent was obtained from all the students' parents or legal guardians. An indirect observation tool (ADDEF) was designed specifically for the study within the theoretical framework, and consisted of a combined field format, with three dimensions, and category systems. Each dimension formed the basis for building a subsequent system of exhaustive and mutually exclusive categories. Twenty-nine sessions, grouped into two separate modules, were coded using the Atlas.ti 7 program, and a total of 1991 units (messages containing constructivist discursive strategies) were recorded. Analysis of intraobserver reliability showed almost perfect agreement. Lag sequential analysis, which is a powerful statistical technique based on the calculation of conditional and unconditional probabilities in prospective and retrospective lags, was performed in GSEQ5 software to search for verbal behavior patterns before and after the training program. At both time points, we detected a pattern formed by requests for information combined with the incorporation of students' contributions into the teachers' discourse and re-elaborations of answers. In the post-training phase, we detected new and stronger patterns in certain sessions, indicating that programs combining theoretical and practical knowledge can effectively increase teachers' repertoire of discursive strategies and ultimately promote active engagement in learning. This has important implications for the evaluation and development of teacher effectiveness in practice and formal education programs.

7.
Rev. int. med. cienc. act. fis. deporte ; 15(57): 123-137, mar. 2015. tab
Article in Spanish | IBECS | ID: ibc-137802

ABSTRACT

Se realiza un análisis diacrónico de la comunicación motriz en tres grupos de juegos y deportes tradicionales canarios ('juegos aborígenes', 'juegos tradicionales', y 'deportes tradicionales') para deducir pautas sociales que encierran estas prácticas. Se analizan y categorizan la red de comunicación motriz y la interacción motriz siguiendo criterios de la praxiología motriz. Bajo el significado del enfrentamiento como función lúdica principal, la estructura dualista se muestra de manera hegemónica, en detrimento de otras formas de comunicación motriz. También, se desvela que la diversificación de la interacción motriz del grupo 'juegos tradicionales' no es equivalente en los otros grupos estudiados, mostrando aquel grupo significados etnomotores hetereogéneos para una misma actividad. Las prácticas motrices estudiadas dan idea de la complejidad de la construcción de la tradición lúdica canaria (AU)


A diachronic analysis of motor communication in three groups of traditional Canary Island games (‘aboriginal games’, ‘traditional games’, and ‘traditional sports’) was carried out in order to detect and define their social models. Both motor communication and motor interaction were analyzed and categorized according to motor praxeology criteria. When confrontation was the main function of the game, the dual structure was dominant over other forms of motor communication. The motor interaction diversification in the ‘traditional games’ group was not comparable to the other two groups due to the various ethno-motor modes used for the same activity. The motor study allows us to form an idea of the complexity of the construct of traditional Canary games (AU)


Subject(s)
Humans , Sports/physiology , Psychomotor Performance , Motor Activity/physiology , Nonverbal Communication , Ethnicity , Cultural Factors , Competitive Behavior , Group Processes
8.
Neurobiol Aging ; 34(10): 2441.e9-2441.e11, 2013 Oct.
Article in English | MEDLINE | ID: mdl-23731953

ABSTRACT

FUS/TLS (denoting fused in sarcoma/translocated in liposarcoma [MIM 137070]) codifies an RNA binding protein. Mutations in this gene cause amyotrophic lateral sclerosis (ALS; MIM 608030). Essential tremor (ET [MIM 190300]) is the most frequent movement disorder. Despite its strong familiar aggregation, recently a whole exome sequencing study has identified FUS mutations as a cause of familial ET. To determine whether mutations in FUS are also common in other populations, we sequenced FUS gene in 178 unrelated Spanish subjects with ET. We detected only an intronic single-pair nucleotide deletion (c.1293-37delC), which was predicted to affect mRNA splicing. However, leukocyte mRNA analysis showed no changes in FUS expression. In conclusion, coding or splicing FUS mutations are not a frequent cause of ET in the Spanish population.


Subject(s)
Essential Tremor/ethnology , Essential Tremor/genetics , Exome/genetics , Mutation Rate , Mutation , RNA-Binding Protein FUS/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Base Sequence/genetics , Child , Child, Preschool , Cohort Studies , Female , Gene Expression , Humans , Leukocytes , Male , Middle Aged , RNA Splicing/genetics , RNA, Messenger/genetics , Sequence Deletion/genetics , Spain/ethnology , White People/genetics , Young Adult
9.
Acta Neurol Scand ; 128(6): 359-71, 2013 Dec.
Article in English | MEDLINE | ID: mdl-23682623

ABSTRACT

Despite the research, few advances in the etiopathogenesis on essential tremor (ET) have been made to date. The high frequency of positive family history of ET and the observed high concordance rates in monozygotic compared with dizygotic twins support a major role of genetic factors in the development of ET. In addition, a possible role of environmental factors has been suggested in the etiology of ET (at least in non-familial forms). Although several gene variants in the LINGO1 gene may increase the risk of ET, to date no causative mutated genes have been identified. In this review, we summarize the studies performed on families with tremor, twin studies, linkage studies, case-control association studies, and exome sequencing in familial ET.


Subject(s)
Essential Tremor/etiology , Essential Tremor/genetics , Genetic Predisposition to Disease/genetics , Genome-Wide Association Study , Databases, Bibliographic/statistics & numerical data , Essential Tremor/epidemiology , Humans , Membrane Proteins/genetics , Mutation/genetics , Nerve Tissue Proteins/genetics , Twin Studies as Topic
10.
Eur J Clin Microbiol Infect Dis ; 32(6): 795-801, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23322279

ABSTRACT

Multiple sclerosis (MS) is the prototypical inflammatory disease of the central nervous system and spinal cord, leading to axonal demyelination of neurons. Recently, we have found a correlation between fungal infection and MS in peripheral blood of patients. The present work provides evidence of fungal infection in the cerebrospinal fluid (CSF) of some MS patients. Thus, fungal antigens can be demonstrated in CSF, as well as antibodies reacting against several Candida species. Comparison was made between CSF and blood serum for the presence of fungal antigens (proteins) and antibodies against different Candida spp. Analyses of both CSF and serum are complementary and serve to better evaluate for the presence of disseminated fungal infection. In addition, PCR analyses indicate the presence of DNA from different fungal species in CSF, depending on the patient analyzed. Overall, these findings support the notion that fungal infection can be demonstrated in CSF from some MS patients. This may constitute a risk factor in this disease and could also help in understanding the pathogenesis of MS.


Subject(s)
Multiple Sclerosis/cerebrospinal fluid , Multiple Sclerosis/microbiology , Mycoses/cerebrospinal fluid , Mycoses/microbiology , Adult , Antibodies, Fungal/blood , Antibodies, Fungal/cerebrospinal fluid , Antigens, Fungal/blood , Antigens, Fungal/cerebrospinal fluid , Candida/classification , Candida/genetics , Candida/immunology , Female , Humans , Male , Middle Aged , Multiple Sclerosis/blood , Mycoses/blood , Young Adult
11.
Acta Anaesthesiol Scand ; 56(10): 1332-5, 2012 Nov.
Article in English | MEDLINE | ID: mdl-22834896

ABSTRACT

Spontaneous intracranial hypotension (SIH) is considered to be a very rare disease. It is characterised by an orthostatic headache in the absence of a past history of a trauma or a dural puncture. SIH is caused by a spontaneous spinal cerebrospinal fluid (CSF) leakage demonstrated by neuroradiological studies in most of the patients. Conservative treatment usually includes bed rest, hydration and administration of caffeine or steroids. However, when the patient is refractory to the conservative treatment, an epidural blood patch (EBP) is performed. We report a 34-year-old woman with SIH and no neuroradiologically demonstrable clear point of CSF leakage, who was treated with a double EBP at two different levels (lumbar and thoracic) in the same procedure. The patient was successfully managed, and she was still asymptomatic at the 18 months follow-up. After review of literature, we observed that execution of a double EBP at the same time is not a common procedure for treatment of SIH. We consider that simultaneous use of two EBP could be useful as a novel treatment in those cases of SIH without demonstration of CSF leakage.


Subject(s)
Blood Patch, Epidural/methods , Intracranial Hypotension/therapy , Adult , Anesthesia, Epidural , Cerebrospinal Fluid Leak , Cerebrospinal Fluid Rhinorrhea , Epidural Space/pathology , Female , Headache/etiology , Humans , Magnetic Resonance Imaging
13.
Med. intensiva (Madr., Ed. impr.) ; 35(supl.1): 22-27, nov. 2011. tab
Article in Spanish | IBECS | ID: ibc-136005

ABSTRACT

El soporte nutricional en la insuficiencia renal aguda está condicionado por el catabolismo del paciente y por el tratamiento del fallo renal. En el paciente crítico es frecuente el fracaso hipermetabólico que obliga a técnicas continuas de reemplazo renal o a hemodiálisis diarias. En los enfermos con catabolismo normal (aparición de nitrógeno ureico inferior a 10 g/ día) y diuresis conservada se puede intentar un tratamiento conservador. En estos casos es preciso realizar un soporte nutricional relativamente hipoprotéico, con proteínas de alto valor biológico y limitaciones hidroelectrolíticas individualizadas. Es necesario un ajuste del aporte de micronutrientes, siendo el bicarbonato el único buffer utilizado. Cuando se utilizan técnicas de depuración extrarrenal desaparecen las limitaciones a los aportes hidroelectrolíticos y nitrogenados, pero éstos deben ser modificados en función del tipo de depuración. Los sistemas continuos de reemplazo renal, en función de su lujo de hemoiltración, precisan altos aporte nitrogenados diarios que en ocasiones pueden alcanzar los 2,5 g de proteínas/ kg. La cuantía de la reposición de volumen puede inducir sobrecargas energéticas, siendo recomendable utilizar líquidos de reposición y diálisis sin glucosa o con una concentración de glucosa de 1 g/ l, con bicarbonato como buffer. Es preciso monitorizar los valores de electrolitos (sobre todo de fósforo, potasio y magnesio) y de micronutrientes, y realizar aportes individualizados (AU)


Nutritional support in acute renal failure must take into account the patient’s catabolism and the treatment of the renal failure. Hypermetabolic failure is common in these patients, requiring continuous renal replacement therapy or daily hemodialysis. In patients with normal catabolism (urea nitrogen below 10 g/ day) and preserved diuresis, conservative treatment can be attempted. In these patients, relatively hypoproteic nutritional support is essential, using proteins with high biological value and limiting luid and electrolyte intake according to the patient’s individual requirements. Micronutrient intake should be adjusted, the only buffering agent used being bicarbonate. Limitations on luid, electrolyte and nitrogen intake no longer apply when extrarenal clearance techniques are used but intake of these substances should be modified according to the type of clearance. Depending on their hemoiltration low, continuous renal replacement systems require high daily nitrogen intake, which can sometimes reach 2.5 g protein/kg. The amount of volume replacement can induce energy overload and therefore the use of glucose-free replacement luids and glucose-free dialysis or a glucose concentration of 1 g/L, with bicarbonate as a buffer, is recommended. Monitoring of electrolyte levels (especially those of phosphorus, potassium and magnesium)and of micronutrients is essential and administration of these substances should be individually- tailored (AU)


Subject(s)
Humans , Acute Kidney Injury/therapy , Blood Glucose/analysis , Electrolytes/blood , Enteral Nutrition/methods , Enteral Nutrition/standards , Critical Care/methods , Nitrogen/metabolism , Parenteral Nutrition/methods , Parenteral Nutrition/standards , Acute Kidney Injury/etiology , Acute Kidney Injury/metabolism , Blood Urea Nitrogen , Critical Illness/therapy , Diet, Protein-Restricted , Dietary Carbohydrates/administration & dosage , Dietary Proteins/administration & dosage , Dietary Proteins/pharmacokinetics , Food, Formulated , Metabolism , Micronutrients/administration & dosage , Nutritional Requirements , Renal Replacement Therapy , Spain , Societies, Medical/standards , Societies, Scientific/standards
14.
Med. intensiva (Madr., Ed. impr.) ; 35(supl.1): 81-85, nov. 2011.
Article in Spanish | IBECS | ID: ibc-136017

ABSTRACT

El paciente con patología cardíaca puede presentar 2 tipos de desnutrición: la caquexia cardíaca, que aparece en situaciones de insuficiencia cardíaca congestiva crónica, y una malnutrición secundaria a complicaciones de la cirugía cardíaca o de cualquier cirugía mayor realizada en pacientes con cardiopatía. Se debe intentar una nutrición enteral precoz si no se puede utilizar la vía oral. Cuando la función cardíaca esté profundamente comprometida la nutrición enteral es posible, pero a veces precisará suplementación con nutrición parenteral. La hiperglucemia aguda sostenida en las primeras 24 h en pacientes ingresados por síndrome coronario agudo, sean o no diabéticos, es un factor de mal pronóstico en términos de mortalidad a los 30 días. En el paciente crítico cardíaco con fallo hemodinámico en situación estable, un soporte nutricional de 20-25 kcal/kg/día es eficaz para mantener un estado nutricional adecuado. El aporte proteico debe ser de 1,2-1,5 g/kg/día. Se administrarán fórmulas poliméricas o hiperproteicas habituales, según la situación nutricional previa del paciente, con restricción de sodio y volumen según su situación clínica. La glutamina es la mayor fuente de energía para el miocito, vía conversión a glutamato, protegiendo además a la célula miocárdica de la isquemia en situaciones críticas. La administración de 1 g/ día de w-3 (EPA+DHA), en forma de aceite de pescado, puede prevenir la muerte súbita en el tratamiento del síndrome coronario agudo y también puede contribuir a una disminución de los ingresos hospitalarios, por eventos cardiovasculares, en la insuficiencia cardíaca crónica (AU)


Patients with cardiac disease can develop two types of malnutrition: cardiac cachexia, which appears in chronic congestive heart failure, and malnutrition due to the complications of cardiac surgery or any other type of surgery in patients with heart disease. Early enteral nutrition should be attempted if the oral route cannot be used. When cardiac function is severely compromised, enteral nutrition is feasible, but supplementation with parenteral nutrition is sometimes required. Sustained hyperglycemia in the first 24 hours in patients admitted for acute coronary syndrome, whether diabetic or not, is a poor prognostic factor for 30-day mortality. In critically- ill cardiac patients with stable hemodynamic failure, nutritional support of 20-25 kcal/ kg/ day is effective in maintaining adequate nutritional status. Protein intake should be 1.2-1.5 g/ kg/ day. Routine polymeric or high protein formulae should be used, according to the patient’s prior nutritional status, with sodium and volume restriction according to the patient’s clinical situation. The major energy source for myocytes is glutamine, through conversion to glutamate, which also protects the myocardial cell from ischemia in critical situations. Administration of 1 g/ day of omega-3 (EPA+DHA) in the form of fish oil can prevent sudden death in the treatment of acute coronary syndrome and can also help to reduce hospital admission for cardiovascular events in patients with chronic heart failure (AU)


Subject(s)
Humans , Enteral Nutrition/methods , Enteral Nutrition/standards , Heart Diseases/complications , Heart Diseases/metabolism , Heart Diseases/therapy , Critical Care/methods , Societies, Medical/standards , Societies, Scientific/standards , Parenteral Nutrition/methods , Parenteral Nutrition/standards , Myocytes, Cardiac/metabolism , Acute Coronary Syndrome/drug therapy , Cachexia/etiology , Cachexia/prevention & control , Cachexia/therapy , Cardiac Surgical Procedures , Critical Illness/therapy , Death, Sudden, Cardiac/prevention & control , Diet, Sodium-Restricted , Dietary Proteins/administration & dosage , Energy Metabolism , Fatty Acids, Omega-3/administration & dosage , Fatty Acids, Omega-3/therapeutic use , Food, Formulated , Glutamine/administration & dosage , Glutamine/therapeutic use , Malnutrition/etiology , Malnutrition/prevention & control , Malnutrition/therapy , Postoperative Complications/etiology
15.
Eur J Neurol ; 18(8): 1085-9, 2011 Aug.
Article in English | MEDLINE | ID: mdl-21219542

ABSTRACT

BACKGROUND: Essential tremor (ET) is a frequent movement disorder with a substantial family aggregation. A genome-wide association study has recently shown that LINGO1 gene variants are associated with increased risk of ET. METHODS: We intended to replicate these findings by genotyping rs9652490 and rs11856808 in a series of 226 familial ET subjects and 1117 healthy controls from referral movement disorder clinics in Spain. RESULTS: We were unable to replicate the association between LINGO1 variants and familial ET. CONCLUSIONS: Our results indicate that the LINGO1 variants analyzed are not a major risk factor for developing familial ET in our population, which suggests the existence of other unknown genetic risk factors responsible for familial ET in the Spanish population.


Subject(s)
Essential Tremor/genetics , Genetic Predisposition to Disease/genetics , Membrane Proteins/genetics , Nerve Tissue Proteins/genetics , Polymorphism, Single Nucleotide/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Case-Control Studies , Essential Tremor/epidemiology , Gene Frequency/genetics , Genetic Testing , Genotype , Humans , Middle Aged , Risk Factors , Young Adult
17.
Med Intensiva ; 35 Suppl 1: 22-7, 2011 Nov.
Article in Spanish | MEDLINE | ID: mdl-22309748

ABSTRACT

Nutritional support in acute renal failure must take into account the patient's catabolism and the treatment of the renal failure. Hypermetabolic failure is common in these patients, requiring continuous renal replacement therapy or daily hemodialysis. In patients with normal catabolism (urea nitrogen below 10 g/day) and preserved diuresis, conservative treatment can be attempted. In these patients, relatively hypoproteic nutritional support is essential, using proteins with high biological value and limiting fluid and electrolyte intake according to the patient's individual requirements. Micronutrient intake should be adjusted, the only buffering agent used being bicarbonate. Limitations on fluid, electrolyte and nitrogen intake no longer apply when extrarenal clearance techniques are used but intake of these substances should be modified according to the type of clearance. Depending on their hemofiltration flow, continuous renal replacement systems require high daily nitrogen intake, which can sometimes reach 2.5 g protein/kg. The amount of volume replacement can induce energy overload and therefore the use of glucose-free replacement fluids and glucose-free dialysis or a glucose concentration of 1 g/L, with bicarbonate as a buffer, is recommended. Monitoring of electrolyte levels (especially those of phosphorus, potassium and magnesium) and of micronutrients is essential and administration of these substances should be individually-tailored.


Subject(s)
Acute Kidney Injury/therapy , Critical Care , Enteral Nutrition/standards , Parenteral Nutrition/standards , Societies, Medical/standards , Societies, Scientific/standards , Acute Kidney Injury/etiology , Acute Kidney Injury/metabolism , Blood Glucose/analysis , Blood Urea Nitrogen , Critical Care/methods , Critical Illness/therapy , Diet, Protein-Restricted , Dietary Carbohydrates/administration & dosage , Dietary Proteins/administration & dosage , Dietary Proteins/pharmacokinetics , Electrolytes/blood , Enteral Nutrition/methods , Food, Formulated , Humans , Metabolism , Micronutrients/administration & dosage , Nitrogen/metabolism , Nutritional Requirements , Parenteral Nutrition/methods , Renal Replacement Therapy , Spain
18.
Med Intensiva ; 35 Suppl 1: 81-5, 2011 Nov.
Article in Spanish | MEDLINE | ID: mdl-22309760

ABSTRACT

Patients with cardiac disease can develop two types of malnutrition: cardiac cachexia, which appears in chronic congestive heart failure, and malnutrition due to the complications of cardiac surgery or any other type of surgery in patients with heart disease. Early enteral nutrition should be attempted if the oral route cannot be used. When cardiac function is severely compromised, enteral nutrition is feasible, but supplementation with parenteral nutrition is sometimes required. Sustained hyperglycemia in the first 24 hours in patients admitted for acute coronary syndrome, whether diabetic or not, is a poor prognostic factor for 30-day mortality. In critically-ill cardiac patients with stable hemodynamic failure, nutritional support of 20-25 kcal/kg/day is effective in maintaining adequate nutritional status. Protein intake should be 1.2*-1.5 g/kg/day. Routine polymeric or high protein formulae should be used, according to the patient's prior nutritional status, with sodium and volume restriction according to the patient's clinical situation. The major energy source for myocytes is glutamine, through conversion to glutamate, which also protects the myocardial cell from ischemia in critical situations. Administration of 1 g/ day of omega-3 (EPA+DHA) in the form of fish oil can prevent sudden death in the treatment of acute coronary syndrome and can also help to reduce hospital admission for cardiovascular events in patients with chronic heart failure.


Subject(s)
Critical Care , Enteral Nutrition/standards , Heart Diseases/therapy , Parenteral Nutrition/standards , Societies, Medical/standards , Societies, Scientific/standards , Acute Coronary Syndrome/drug therapy , Cachexia/etiology , Cachexia/prevention & control , Cachexia/therapy , Cardiac Surgical Procedures , Critical Care/methods , Critical Illness/therapy , Death, Sudden, Cardiac/prevention & control , Diet, Sodium-Restricted , Dietary Proteins/administration & dosage , Energy Metabolism , Enteral Nutrition/methods , Fatty Acids, Omega-3/administration & dosage , Fatty Acids, Omega-3/therapeutic use , Food, Formulated , Glutamine/administration & dosage , Glutamine/therapeutic use , Heart Diseases/complications , Heart Diseases/metabolism , Humans , Malnutrition/etiology , Malnutrition/prevention & control , Malnutrition/therapy , Myocytes, Cardiac/metabolism , Parenteral Nutrition/methods , Postoperative Complications/etiology , Postoperative Complications/prevention & control , Postoperative Complications/therapy , Spain
19.
Nutr Hosp ; 26 Suppl 2: 21-6, 2011 Nov.
Article in English | MEDLINE | ID: mdl-22411514

ABSTRACT

Nutritional support in acute renal failure must take into account the patient's catabolism and the treatment of the renal failure. Hypermetabolic failure is common in these patients, requiring continuous renal replacement therapy or daily hemodialysis. In patients with normal catabolism (urea nitrogen below 10 g/day) and preserved diuresis, conservative treatment can be attempted. In these patients, relatively hypoproteic nutritional support is essential, using proteins with high biological value and limiting fluid and electrolyte intake according to the patient's individual requirements. Micronutrient intake should be adjusted, the only buffering agent used being bicarbonate. Limitations on fluid, electrolyte and nitrogen intake no longer apply when extrarenal clearance techniques are used but intake of these substances should be modified according to the type of clearance. Depending on their hemofiltration flow, continuous renal replacement systems require high daily nitrogen intake, which can sometimes reach 2.5 g protein/kg. The amount of volume replacement can induce energy overload and therefore the use of glucose-free replacement fluids and glucose-free dialysis or a glucose concentration of 1 g/L, with bicarbonate as a buffer, is recommended. Monitoring of electrolyte levels (especially those of phosphorus, potassium and magnesium) and of micronutrients is essential and administration of these substances should be individually-tailored.


Subject(s)
Acute Kidney Injury/therapy , Critical Illness/therapy , Nutritional Support/methods , Acute Kidney Injury/metabolism , Consensus , Dietary Proteins/administration & dosage , Dietary Proteins/adverse effects , Diuresis/physiology , Energy Intake , Food, Formulated , Hemofiltration , Humans , Micronutrients/administration & dosage , Nutritional Requirements , Peritoneal Dialysis , Renal Dialysis , Renal Replacement Therapy , Water-Electrolyte Balance/physiology
20.
Nutr Hosp ; 26 Suppl 2: 76-80, 2011 Nov.
Article in English | MEDLINE | ID: mdl-22411526

ABSTRACT

Patients with cardiac disease can develop two types of malnutrition: cardiac cachexia, which appears in chronic congestive heart failure, and malnutrition due to the complications of cardiac surgery or any other type of surgery in patients with heart disease. Early enteral nutrition should be attempted if the oral route cannot be used. When cardiac function is severely compromised, enteral nutrition is feasible, but supplementation with parenteral nutrition is sometimes required. Sustained hyperglycemia in the first 24 hours in patients admitted for acute coronary syndrome, whether diabetic or not, is a poor prognostic factor for 30-day mortality. In critically-ill cardiac patients with stable hemodynamic failure, nutritional support of 20-25 kcal/kg/day is effective in maintaining adequate nutritional status. Protein intake should be 1.2-1.5 g/kg/day. Routine polymeric or high protein formulae should be used, according to the patient's prior nutritional status, with sodium and volume restriction according to the patient's clinical situation. The major energy source for myocytes is glutamine, through conversion to glutamate, which also protects the myocardial cell from ischemia in critical situations. Administration of 1 g/day of omega-3 (EPA+DHA) in the form of fish oil can prevent sudden death in the treatment of acute coronary syndrome and can also help to reduce hospital admission for cardiovascular events in patients with chronic heart failure.


Subject(s)
Critical Illness/therapy , Heart Diseases/therapy , Nutritional Support/methods , Consensus , Dietary Carbohydrates/administration & dosage , Dietary Fats/administration & dosage , Energy Intake , Fatty Acids, Omega-3/administration & dosage , Fatty Acids, Omega-3/therapeutic use , Food, Formulated , Humans , Hyperglycemia/therapy , Malnutrition/etiology , Malnutrition/therapy , Micronutrients/administration & dosage , Nutritional Support/standards
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