[Hypomyelinating leukodystrophy type 6. Clinical and neuroimaging key features in the detection of a new case]. / Leucodistrofia hipomielinizante de tipo 6. Claves clinicas y de neuroimagen en la deteccion de un nuevo caso.

INTRODUCTION: Hypomyelinating leukodystrophy-6 is a rare and early onset neurodegenerative disease which entails a clinical pattern of pyramidal-extrapyramidal and cerebellar involvement and it comes with a neuroimaging consisting of hypomielination, cerebellar hypoplasia and specific abnormalities in basal ganglia, particularly the absence or nearly absence of putamen and the possible loss of caudate's volume. It is due to an alteration in tubulin and it is determined by mutations in heterocygosis in TUBB4A gene, showing complete penetrance. CASE REPORT: An 8-year-old child with history of delayed motor development, tremor, dysathria, ataxia, nystagmus, cognitive deficit and dystonia with pattern of hypomielination, vermis hypoplasia and absence of putamen. These findings, although distinctive, had been underestimated in previous evaluations and their detection determined the analyse and identification of a pathogenic variant in TUBB4A gene. CONCLUSIONS: Progressive deterioration leads the patient to total dependence or death in infancy or youth and there is no specific treatment capable of modifying its natural course.

TITLE: Leucodistrofia hipomielinizante de tipo 6. Claves clinicas y de neuroimagen en la deteccion de un nuevo caso.Introduccion. La leucodistrofia hipomielinizante de tipo 6 es una enfermedad neurodegenerativa rara de inicio temprano que cursa clinicamente con un patron de afectacion piramidoextrapiramidal y cerebeloso, y asocia en neuroimagen hipomielinizacion, hipoplasia cerebelosa y anomalias especificas en los ganglios basales, en concreto atrofia o practica ausencia del putamen y posible perdida del volumen del caudado. Se debe a una alteracion en la tubulina, esta condicionada por mutaciones en heterocigosis en el gen TUBB4A y muestra una penetrancia completa y una expresividad variable. Caso clinico. Niño de 8 años con clinica de retraso de la marcha, temblor, disartria, ataxia, nistagmo, afectacion cognitiva y distonia, con un patron de hipomielinizacion, hipoplasia vermiana y ausencia del putamen. Estos hallazgos, aunque distintivos, habian sido infraestimados en valoraciones previas y su objetivacion conllevo el analisis y la identificacion de una variante patogena en el gen TUBB4A. Conclusiones. El deterioro progresivo lleva al paciente a la dependencia total o el fallecimiento en la infancia o la juventud, y no existe tratamiento especifico capaz de modificar su curso natural.

[Treatment of choline kinase beta deficiency with citicoline]. / Tratamiento de la deficiencia en colina cinasa beta con citicolina.

TITLE: Tratamiento de la deficiencia en colina cinasa beta con citicolina.

[Retrospective analysis of the effect of a vagus nerve stimulator implanted in paediatric patients with refractory epilepsy]. / Analisis retrospectivo sobre el efecto del estimulador vagal implantado en pacientes pediatricos con epilepsia refractaria.

INTRODUCTION: The vagus nerve stimulator is a therapeutic alternative in patients with epilepsy which is refractory to treatment with antiepileptic drugs that are not candidates for surgical resection. AIM: To analyse the effectiveness of vagus nerve stimulator in the paediatric patients of our centre. PATIENTS AND METHODS: Set of 13 patients implanted between 2008 y 2013. It was registered the frequency of crises prior to implantation, after a year and at the end of the monitoring period. As well, it was recorded the number of antiepileptic drugs used and in a qualitative way the behavioural improvement and the change in the intensity of the crises, besides the apparition of secondary effects and the removal or not of the device. RESULTS: After a year, two years and at the end of the monitoring period it has been a fall in the number of crises about of 61%, 66.7% y 69% respectively, finding one patient free of crises after two years. At the end of the monitoring period, the 23% of those who had reduced their crises had experimented a reduction over 90%. Independently the effect on the number of crises, 77% of the patients presented an improvement in the intensity and the length of the crises, the same average showed a behavioural improvement. The secondary effects appeared in a 30.7% of the patients, being of mild intensity. CONCLUSIONS: Despite the small size of our sample, our results shows that the vagus nerve stimulator has a relevant efficacy over the pediatric drug resistant population, as much in the frequency and intensity of the crises, as over the behaviour.

TITLE: Analisis retrospectivo sobre el efecto del estimulador vagal implantado en pacientes pediatricos con epilepsia refractaria.Introduccion. El estimulador vagal es una alternativa terapeutica en los pacientes con epilepsia refractaria al tratamiento con farmacos antiepilepticos que no son candidatos a cirugia de reseccion. Objetivo. Analizar la eficacia del estimulador vagal en los pacientes pediatricos de nuestro centro. Pacientes y metodos. Conjunto de 13 pacientes implantados entre los años 2008 y 2013. Se registro la frecuencia de crisis previa a la implantacion, al año, a los dos años y al final del seguimiento. Asimismo, se recogio el numero de farmacos antiepilepticos utilizados, de forma cualitativa la mejoria conductual y el cambio en la intensidad de las crisis, asi como la aparicion de efectos secundarios y la retirada o no del dispositivo. Resultados. Al año, a los dos años y al final del seguimiento se habia producido una reduccion en el numero de crisis del 61%, 66,7% y 69%, respectivamente, y uno de los pacientes se encontro libre de crisis a los dos años. Al final del seguimiento, un 23% de los que habian disminuido sus crisis habia experimentado una reduccion superior al 90%. De forma independiente al efecto sobre el numero de crisis, el 77% de los pacientes presento una mejoria en la intensidad y duracion de las crisis, y ese mismo porcentaje mostro una mejoria conductual. Los efectos secundarios aparecieron en un 30,7% de los pacientes y fueron de intensidad leve. Conclusiones. A pesar del pequeño tamaño de la muestra, nuestros resultados indican que el estimulador vagal tiene una eficacia relevante en la poblacion pediatrica farmacorresistente, tanto sobre la frecuencia e intensidad de las crisis como sobre la conducta.

[Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes]. / Caracterizacion molecular y descripcion fenotipica de dos casos con aberraciones cromosomicas reciprocas en la region de los sindromes de microdelecion/microduplicacion 3q29.

INTRODUCTION: The 3q29 microdeletion and microduplication syndromes are characterised by a marked phenotypic heterogeneity, and delayed development and a mild-moderate degree of intellectual disability are the most frequent clinical manifestations. CASE REPORTS: Two patients with reciprocal chromosomal aberrations in the 3q29 region. The patient with 3q29 microdeletion presented learning disabilities, borderline microcephaly, mild facial dysmorphism, attentional deficit and impulsiveness, and anxious and obsessive traits. The patient with reciprocal 3q29 microduplication presented learning disabilities, mild facial dysmorphism and a disruptive behavioural profile that was not previously associated with this duplication. CONCLUSIONS: The phenotypes of these patients are compared and the literature about paediatric patients with 3q29 microdeletions and microduplications is reviewed.

TITLE: Caracterizacion molecular y descripcion fenotipica de dos casos con aberraciones cromosomicas reciprocas en la region de los sindromes de microdelecion/microduplicacion 3q29.Introduccion. Los sindromes de microdelecion y microduplicacion 3q29 se caracterizan por una marcada heterogeneidad fenotipica, y el retraso del desarrollo y la discapacidad intelectual de grado leve-moderado son las manifestaciones clinicas mas frecuentes. Casos clinicos. Dos pacientes con aberraciones cromosomicas reciprocas en la region 3q29. La paciente con la microdelecion 3q29 presenta dificultades de aprendizaje, microcefalia limite, dismorfismo facial leve, deficit atencional e impulsividad, y rasgos ansiosos y obsesivos. El paciente con la microduplicacion 3q29 reciproca presenta dificultades de aprendizaje, dismorfismo facial leve y un perfil conductual disruptivo no asociado previamente con esta duplicacion. Conclusion. Se comparan los fenotipos de estos pacientes y se revisa la bibliografia de pacientes pediatricos con microdeleciones y microduplicaciones 3q29.

Delay in thrombolytic treatment in acute myocardial infarction: the role of the accident and emergency department.

During a 6-week period, 248 patients presenting with chest pain presumed to be cardiac in origin, were recruited in a time and motion study in the Accident and Emergency Department of the Leicester Royal Infirmary. The study considered the ambulance-response and transfer times from the scene to the hospital, as well as the duration of the patients stay in the Department. While Ambulance Time from the scene of the incident to the hospital averaged 28 min, the time spent in the Accident and Emergency Department prior to admission averaged 76.5 min. This study was conducted in the light of growing concern expressed at the delay in administering thrombolytic agents to those patients with acute myocardial infarction (AMI). The authors propose possible ways of reducing such delays.

Serum potassium responses to nebulized salbutamol administered during an acute asthmatic attack.

A prospective study of 20 patients presenting to an accident and emergency department with an exacerbation of pre-existing reversible airways disease was undertaken in order to determine whether such patients incurred any changes in their serum potassium following administration of 5 mg of nebulized salbutamol. Electrolytes were estimated before and 30 min after administration of nebulized salbutamol. No other drug was administered during this period. Results indicate that nebulized salbutamol can cause a significant hypokalaemic response in such situations. Eight out of the 20 patients studied demonstrated falls in serum potassium of more than 0.3 mmol/l. Most of the falls in serum potassium occurred in patients with low pre-treatment PCO2 values; a group of patients with less severe respiratory distress. This preliminary study indicates that a further study aimed at elucidating the clinical significance of nebulized salbutamol-induced hypokalaemia is required.

Fractures of the distal phalanges.

A prospective study of 110 patients with fractures of the distal phalanx indicates that less than one in three patients with such injuries will have recovered after six months. Less than one half of distal phalangeal fractures will have united by then. Factors that carry a poor prognosis include osteolysis of fractured fragments, subungual haematomas and non-union of fractures.

Ultrasound assessment of the suspected scaphoid fracture.

A prospective study of 111 patients thought to have sustained a recent scaphoid fracture on clinical grounds but who were radiologically negative was undertaken over a period of 7 months. All such patients were subjected to ultrasound scanning within a week of their injury under double blind conditions. All patients were re-X-rayed 2-3 weeks after their injury. The authors' results suggest that ultrasonic diagnosis of the possibly fractured scaphoid is unreliable.

Achilles paratendonitis: an evaluation of steroid injection.

A prospective, randomised, double-blind study of 28 patients presenting with Achilles paratendonitis was undertaken in order to evaluate the role of peritendonous injection of methy prednisolone acetate (Depo Medrone). At presentation patients were either administered peri-tendonous injection of 40 mgs of methyl prednisolone acetate suspended in 1 ml of 0.25% marcaine or 2 ml of 0.25% marcaine alone. Response was gauged by resolution of pain, tenderness and return to normal activity. Patients who failed to respond to initial treatment were crossed over to the other group at 12 weeks. All patients received standardised physiotherapy. Results indicate that peri-tendonous injection of methyl prednisolone acetate is of no value in Achilles paratendonitis.

The suspected fracture of the scaphoid: a rational approach to diagnosis.

It has been the policy of the accident and emergency department in Leicester to treat all clinically suspected fractures of the carpal scaphoid in plaster for 2 weeks, even after negative radiology. A preliminary audit of policy revealed that 150 wrists had been immobilized in plaster during a 6-month period and yet only eight fractures of the scaphoid were identified in this group. In order to reduce the degree of 'overkill' a new policy was introduced for the management of the clinically suspected, radiologically negative fracture of the scaphoid and results were assessed prospectively. The new policy was based on resting all such injuries in broad arm slings until review by a more senior member of staff was possible, always within 1 week. Results indicate that it is easier to make a definitive soft tissue diagnosis a few days after such injuries and, therefore, the number of plasters applied dropped substantially. Not all fractures of the scaphoid were apparent on initial radiographs, but despite this it was possible to treat all such injuries appropriately on the strength of their clinical signs when reviewed. The new scheme of management is recommended for general use in accident and emergency departments on the strength of a prospective study of 111 patients with pain after injury, tenderness and swelling in the anatomical snuffbox.

Detection of hypertension in accident and emergency departments.

Routine blood pressure measurements are performed on all non-ambulatory patients attending the Accident and Emergency Department, Leicester Royal Infirmary, England. However, the patient's general practitioner is not always informed of the reading, even if it is found to be raised. One of the chief reasons for this omission is the fact that single, elevated blood pressure readings taken in an accident and emergency department are considered to be of doubtful significance. Sixty patients with a single, elevated blood pressure measurement were studied. Fifteen of these patients were found to continue to have an elevated blood pressure measurement when reviewed in a quiet, relaxed environment. Fourteen of these 15 patients are currently being treated for hypertension after independent assessment by their family practitioners. It was concluded that single, elevated blood pressure readings are useful indicators of hypertension in non-ambulatory patients attending accident and emergency departments. It is, therefore, important to inform general practitioners of incidentally raised blood pressure readings.