ABSTRACT
En este trabajo se establece una propuesta de protocolo para la atención global de pacientes que presentan una enfermedad neurológica en fase terminal, con procedimientos de atención y cuidado a corto y medio plazo, y medidas dietéticas y terapéuticas que aporten bienestar al paciente y su familia: hidratación y nutrición con sonda nasogástrica o duodenal, gastrostomía endoscópica percutánea, por vía venosa central; control del ritmo vesical e intestinal; adecuación del ritmo sueño-vigilia; cuidados físicos, psicológicos y sociales; tratamiento del dolor, problemas digestivos, ortopédicos e infecciosos; terapias específicas de la enfermedad; antiepilépticos; rehabilitación física y apoyo psicológico, así como información (actual y anticipatoria) y comunicación al paciente, familiares y personal sanitario; atención continuada con controles de peso, temperatura, frecuencia cardiaca y respiratoria, presión arterial, saturación de O2 y de CO2, presión intracraneal, hemograma, coagulación, bioquímica, proteinograma, densidad y osmolaridad en orina (AU)
Proposal for a protocol for the comprehensive care of patients with neurological disorders in the terminal phase, with procedures for their short-term and medium-term care, with dietary and therapeutic measures that bring wellbeing and comfort to patients and their families: hydration and nutrition through a nasogastric or duodenal tube, percutaneous endoscopic gastrostomy, central venous route; control of the vesical and intestinal rhythm; adaptation of the sleep-wake rhythm; physical, psychological and social care; treatment of pain, digestive, orthopaedic and infectious problems; specific therapies for the disease; antiepileptic drugs; physical rehabilitation; psychological support. In addition, the provision of (current and proactive) information to, and communication with, the patient, the patients family, health care staff. Continuous care through the control of weight, temperature, cardiac and respiratory frequency, blood pressure, O2and CO2 saturation, intracranial pressure, blood count, coagulation, biochemistry, proteinogram, urine density and osmolarity (AU)
Subject(s)
Humans , Male , Female , Child , Nervous System Diseases/therapy , Terminal Care/methods , Terminally Ill/psychology , Clinical Protocols , Pain/drug therapy , /instrumentationABSTRACT
La elevada frecuencia de procesos neurológicos con evolución mortal exige una atención global activa y continuada al paciente y su familia por parte de un equipo multidisciplinario, con el objetivo prioritario de conseguir la mejor calidad de vida posible para ellos. La enfermedad neurológica requiere una máxima certeza diagnóstica, y se caracteriza por la falta de respuesta al tratamiento, una evolución progresiva de la enfermedad, que es incurable e irreversible, y un pronóstico mortal en un plazo relativamente corto. Con estas premisas, se propone una atención integral de los pacientes para ayudarles a morir dignamente, limitando las medidas terapéuticas y manteniendo el equilibrio entre costes y beneficios con objetivos consensuados con el paciente, sus familiares y el equipo multidisciplinario de profesionales que lo atienden. El objetivo de este programa es aunar recursos y adecuar la estructura asistencial a los pacientes, aplicando protocolos de atención integral, que conlleven siempre una información completa, y una comunicación y unos apoyos adecuados en el domicilio y/o en el hospital (AU)
The high rate of neurological processes with a catastrophic evolution demands the comprehensive, active and continuous care of patients and their families by a multi-professional team, with the prime objective of achieving the best possible quality of life for the child and the childs family. The neurological disorder must be characterised by maximum diagnostic certainty, a lack of response to the treatment, a progressive evolution, incurability and irreversibility and a fatal prognosis in a relatively short period of time. With these premises, the aim is to provide the patient with total care to die with dignity, limiting therapeutic measures and maintaining the cost benefitratio through objectives agreed with the patient, the family and the multidisciplinary team of professionals. The objective of this programme is to combine resources and adapt the care structure to the patients needs through the application of protocols for comprehensive care, involving information, communication and support provided in the home and/or hospital (AU)
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Integrated Management of Childhood Illness , Palliative Care , Brain Diseases , Brain Diseases/complications , Brain Diseases/mortalityABSTRACT
Trisomy 9p is a chromosome abnormality caused by duplication of the short arm of chromosome 9. Clinically it is characterized by psychomotor retardation, malformations that can affect various organs and sometimes epilepsy. Trisomy 9p may be the fourth most common autosomal trisomy, after trisomies 21, 13 and 18. Two new cases of trisomy 9p are described. Previous cases reported in Spain, associated clinical features, and the diagnostic and therapeutic approach to these patients are revised.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 9/genetics , Trisomy/genetics , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/therapy , Female , Humans , Infant , Karyotyping , Male , Spain , Syndrome , Trisomy/diagnosisABSTRACT
La trisomía 9p es una cromosomopatía que se define por la duplicación del brazo corto del cromosoma 9. Clínicamente se caracteriza por retraso psicomotor, malformaciones que pueden afectar a distintos órganos y, ocasionalmente, epilepsia. Se trata de la cuarta trisomía autosómica más frecuente, después de las trisomías 21, 13 y 18. Se describen dos nuevos casos de trisomía 9p y se revisan los rasgos clínicos asociados al síndrome, los casos publicados en España, así como la orientación diagnóstica y terapéutica de estos pacientes (AU)
Subject(s)
Female , Humans , Infant , Male , Syndrome , Abnormalities, Multiple , Chromosomes, Human, Pair 9 , Karyotyping , Spain , TrisomyABSTRACT
Objetivo: Proponer un protocolo para el diagnóstico y el tratamiento de los niños con parálisis braquial obstétrica (PBO). Desarrollo: La PBO es una entidad relativamente frecuente, puesto que afecta a 1-2,5 de cada1.000 recién nacidos vivos. Tras revisar las historias clínicas de nuestro servicio en los últimos 8 años y los principales estudios publicados sobre la PBO, se propone una pauta diagnóstico-terapéutica cuyo objetivo es minimizar en lo posible las secuelas y obtener la normalización clínica en todos los pacientes. Conclusiones: La sistematización en los controles de los niños con PBO es fundamental para evitar secuelas irreversibles. Por ser una patología neurológica, parece oportuno que sea el neuropediatra el que coordine el seguimiento de estos pacientes (AU)
Subject(s)
Humans , Infant, Newborn , Brachial Plexus Neuropathies/diagnosis , Brachial Plexus Neuropathies/therapy , Parturition , Brachial Plexus/anatomy & histologyABSTRACT
No disponible
Subject(s)
Child, Preschool , Infant , Child , Humans , Craniocerebral Trauma/diagnosis , Glasgow Coma Scale , Craniocerebral Trauma/physiopathology , Craniocerebral Trauma/therapySubject(s)
Carbamazepine/immunology , Drug Hypersensitivity/immunology , Epilepsies, Partial/drug therapy , IgG Deficiency/immunology , Pulmonary Fibrosis/immunology , Carbamazepine/adverse effects , Child, Preschool , Epilepsies, Partial/immunology , Exanthema , Female , Fever/chemically induced , Humans , IgA Deficiency/immunology , Immunoglobulin M/deficiency , Pulmonary Fibrosis/chemically induced , Pulmonary Fibrosis/diagnostic imaging , RadiographySubject(s)
Myoclonus/etiology , Echoencephalography , Electroencephalography , Electromyography , Female , Humans , Infant , Myoclonus/diagnosisSubject(s)
Brain Diseases/diagnosis , Corpus Striatum/pathology , Child , Child, Preschool , Humans , Male , Necrosis/diagnosis , Tomography, X-Ray ComputedABSTRACT
Relationship between steady-state plasma concentrations of phenobarbitone (PB), phenytoin (PHT), primidone (PRM), carbamazepine (CBZ) and sodium valproate (VPA) and their efficacy and toxicity, were studied in 392 pediatric outpatients, long-term treated in monotherapy for epileptic seizures or febrile convulsions, in order to establish "target" values which may be used, as reference, in clinical practice. The concentration-efficacy and toxicity curves suggest target values of 20, 15, 9, 10, 6 and 70 mg/l for PB, PB derived from PRM, PRM, PHT, CBZ and VPA respectively. Above 25 mg/l of PB, 20 of PHT and 100 of VPA, markedly decreased the probability of response in refractory patients, and a clear increase in toxicity was shown. Above 7 mg/l of CBZ a decrease in the percentage of seizure-free patients was observed, without an increase of toxicity. For PRM no efficacy "ceiling" was found but side effects increased. The target values proposed may be helpful as a reference for the initial dosage of antiepileptic drugs in children, during monotherapy. Nevertheless, final doses should be adjusted according to clinical response of each patient.
Subject(s)
Anticonvulsants/therapeutic use , Epilepsy/drug therapy , Anticonvulsants/administration & dosage , Anticonvulsants/classification , Child, Preschool , Dose-Response Relationship, Drug , Drug Evaluation , Humans , Seizures/drug therapyABSTRACT
Thanks to a survey sent the 4,099 teachers of Cantabria, we value their knowledge and attitudes about the epileptic child. After analyses the 1,283 surveys were sent back (31.3%), 28% of teachers had had an epileptic pupil, although the 89% never had received specialized information about epilepsy, whose etiology was unknown by 30%. A quarter thinks necessary special school or complementary help for the schoolhood of these children, and the 23% thinks the epileptic child is less intelligent than his fellows.
Subject(s)
Epilepsy , Faculty, Medical , Attitude of Health Personnel , Attitude to Health , Humans , Spain , Surveys and QuestionnairesABSTRACT
The influence of risk factors predisposing to recurrences was assessed in 103 children with febrile convulsions who were given prophylactic treatment with phenobarbitone, primidone or sodium valproate at adequate doses and whose compliance with treatment was monitored. There was a greater risk of recurrence among girls. Increasing risk was observed with decreasing age at which children suffered the first febrile convulsion. Neither a family history of epilepsy, failure of previous treatment, history of perinatal incidents, focal or prolonged febrile convulsions, recognition of neurological disease nor the number of previous febrile convulsions led to any significantly greater risk in these children. There was an increased tendency for recurrence with increasing interval between the first febrile convulsion and the start of prophylactic treatment.
Subject(s)
Anticonvulsants/administration & dosage , Epilepsy/epidemiology , Fever/prevention & control , Seizures/prevention & control , Child , Drug Evaluation , Epilepsy/drug therapy , Epilepsy/genetics , Female , Humans , Male , Phenobarbital/administration & dosage , Primidone/administration & dosage , Recurrence , Seizures/epidemiology , Seizures/genetics , Spain/epidemiology , Valproic Acid/administration & dosageABSTRACT
Progressive muscular dystrophy is an hereditary disease with a sex-linked recessive transmission. It is remarkable that in a 33% of the patients the disease is due to a spontaneous mutation. The great deal of methods described for the detection of carriers, reflects their poor reliability. The gemellus muscles of 11 women belonging to 3 different families with children affected by progressive muscular dystrophy were explored by means of ultrasounds. Comparison was made with healthy controls. Since our findings are in concordance with those of the literature, we recommend the use of muscular ultrasounds in the detection of Duchenne muscular dystrophy carriers, specially considering the accessibility, innocuousness and quickness of this method.
Subject(s)
Genetic Carrier Screening/methods , Muscular Dystrophies/genetics , Ultrasonography , Adult , Female , Humans , Middle Aged , Muscles/pathology , Muscular Dystrophies/pathologyABSTRACT
The clinical and neuroradiological findings in a case of semilobar holoprosencephaly associated to hypernatremia behaving like diabetes insipidus are described. The differential diagnosis with a neurogenic hypernatremia is discussed. The advantages of ultrasounds in the diagnosis of this malformation are pointed out. So are the characteristics which differentiate it from other neurological malformations and the importance of a dorsal sac to delimitate the more serous clinical forms.
