Prenatal ultrasound diagnosis of Apert's syndrome.

A mother affected with Apert's syndrome was diagnosed by ultrasound scan at 16-17 weeks to have a fetus similarly affected. The typical features of acrocephaly and symmetrical syndactyly were seen. This is probably the first time that this condition has been diagnosed at such a gestation by ultrasound scan. The patient decided to continue the pregnancy, and intrauterine death occurred at 34 weeks. The diagnosis was confirmed by pathological examination.     

Head injuries in infants and children: Measures to reduce mortality and morbidity in road accidents

In the 6-year period from 1983 to 1988, 12 infants (<24 months of age) and 103 children (2 to 14 years of age) were killed in road crashes in South Australia. This represents an annual incidence of 6.4 deaths per 100,000 children at risk. At least 4 other children were killed in off-road vehicle-related accidents. Of these deaths, approximately half were car passengers, one third pedestrians, and one sixth pedal cyclists. Most of these infants and children died at the accident site or soon after, but 26 of them survived long enough to be admitted to hospitals with neurosurgical units and an audit of these patients suggests that there were at least 3 preventable deaths. However, autopsies of 78 patients show that the great majority of these deaths resulted from devastating brain and/or trunk visceral injuries. Better emergency care and the use of neurosurgical retrieval teams may save some lives. But more lives might be saved by the use of appropriate restraints for infants and children in cars, by reducing the exposure of child pedestrians and cyclists to road traffic, and by mandatory use of helmets by child cyclists. Off-road vehicular accidents are not as a rule included in road crash statistics; the practice of giving small motorcycles to young children has created a new category of vehicular accidents sometimes causing severe head injury.

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Resumen En el período de seis anños 1983–1988, murieron 12 infantes (edades menores de 24 meses) y 103 niños (edades 2–14 años) en accidentes viales en el Sur de Australia, lo cual representa una incidencia anual de 6.4 muertes por 100,000 miños en riesgo. Por lo menos cuatro niños más murieron en accidentes fuera de carreteras pero relacionados con automotores. De tales muertes, approximadamente la mitad correspondió a pasajeros en carros, una tercera parte a peatones y una sexta parte a ciclistas. La mayoría murió en el lugar del accidente o poco tiempo después, pero 26 sobrevivieron un tiempo sufiente para ser hospitalizados en instituciones con unidades neurológicas; una auditoría de tales casos sugiere que por lo menos hubo tres muertes prevenibles. Sin embargo, la autopsia de 78 casos demostró que la mayoría de estas muertes se debió a lesiones devastadores del cerebro y/o las vísceras corporales. Mejores servicios de urgencia y la utilización de equipos de resucitación neuroquirúrgica pueden salvar algunas vidas, pero más vidas pueden ser salvadas mediante el uso de sistemas adecuados de seguridad para infantes y para niños instalados en los carros, reduciendo la exposición de peatones y ciclistas infantiles al tráfico víal y mediante el uso obligatorio de cascos por los ciclistas infantiles. Los accidentes que ocurren por fuera de las carreteras generalmente no son incluídos en las estadísticas de siniestros víales; la costumbre de obsequiar pequeñas motocicletas a niños pequeños ha creado una nueva categoría de accidentes vehículares que en ocasiones causan grave trauma craneano.

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Résumé Pendant la période de six ans allant de 1983 à 1988, 12 enfants âgés de moins de 24 mois et 103 enfants âgés de 2 à 14 ans ont été tués dans un accident de la route en Australie du Sud. Ceci représente une incidence annuelle de 6.4 morts par 100,000 enfants à risque. Au moins quatre autres enfants ont été dans un accident dû à un véhicule motorisé mais hors de la route. Parmi ces morts, la moitié, environ, était des passagers de la voiture, un tiers, des piétons, et un sixième, des cyclistes. La plupart sont morts sur le lieu de l'accident, mais 26 ont survécu suffisamment pour être transportés dans un Hôpital comportant une service de neurochirurgie avant de décéder. Une évaluation de ces accidents mortels a montré qu'au moins trois décès eux étaient évitables. L'autopsie de 78 de ces enfants a démontré que la plupart des décès étaient dus soit à des lésions cérébrales, soit à des lésions viscérales ou du tronc. De meilleurs soins en urgence, et un meilleur déploiment des équipes neurochirurgicales pourraient éviter quelques morts, mais aussi, un certain nombre de morts pourraient être évitées en utilisant correctement less ceintures de sécurité adaptées aux enfants dans les voitures, en réduisant l'exposition aux accidents de ces enfants, ainsi qu'en rendant obligatoire le port de casque pour les enfants se déplacant à vélo. Les accidents qui n'ont pas lieu sur les routes ne sont pas habituelement inclus dans ces statistiques. La croissance de l'utilisation de petits véhicules motorisés par de très jeunes enfants a créé une nouvelle catégorie d'accidents pouvant parfois être responsables de traumatismes crâniens graves.

     

Executive cognitive deficits in primary dystonia.

Primary dystonia is a disorder of movement for which no consistent pathophysiology has been identified; in the absence of evidence to the contrary, it is assumed to be cognitively benign. We have studied a clinically heterogeneous group of 14 patients with primary dystonia on a battery of neuropsychological tests. Despite well-preserved speed of information processing, language, spatial, memory and general intellectual skills relative to normal controls, we have identified a constellation of attentional-executive cognitive deficits on the Cambridge Neuropsychological Test Automated Battery (CANTAB). Specifically, patients demonstrated significant difficulties negotiating the extra-dimensional set-shifting phase of the IED task. The implications of these findings for the pathophysiology of primary dystonia are discussed. This is, to the best of our knowledge, the first report of a significant cognitive deficit in patients with primary dystonia.     

Improvement in depressive illness is not associated with altered release of neurophysins over a course of ECT

The hypothesis that the release of vasopressin-associated neurophysin (hNpI) or oxytocin-associated neurophysin (hNpII) is modified by a course of electroconvulsive therapy (ECT) was tested by the measurement of serum neurophysins before and after the first and last ECTs given to 17 unipolar depressed patients. Neither basal nor ECT-induced neurophysin release changed between the first and last ECTs. Data from the present study were combined with data from a previous published study to provide a sample of 29 unipolar depressed patients. In this extended sample, the release of hNpII after the first ECT was significantly correlated with improvement in symptoms of depression over a course of ECT as measured by the Hamilton Rating Scale for Depression and the Montgomery-Asberg Depression Rating Scale.     

Immunolocalization of cytokines and their receptors in adhesive capsulitis of the shoulder

The purpose of this study was to test the hypothesis that specific cytokines are involved in the initiation and evolution of the fibrotic process in adhesive capsulitis of the shoulder. After approval from the Institutional Review Board, biopsies of shoulder capsule and synovium were collected during shoulder arthroscopy from 19 patients with adhesive capsulitis, 14 patients with nonspecific synovitis and no fibrosis or clinical evidence of adhesive capsulitis, and seven patients undergoing surgery for another pathology who had a normal capsule and synovium. Immunohistochemical localization with monoclonal antibodies to transforming growth factor-β and its receptor, platelet-derived growth factor and its receptor, basic fibroblast growth factor, interleukin-1β, tumor necrosis factor-α, and hepatocyte growth factor was performed using standard immunoperoxidase techniques. The frequency of cytokine staining was correlated with the clinical diagnosis Synovial cells, fibroblasts, T-cells, and B-cells were identified with specific antibodies, and newly synthesized matrix was examined for type-I and type-III collagen by immunohistochemical staining. The predominant cell types present were synovial cells and fibroblasts. Staining for type-III collagen in adhesive capsulitis tissues indicated new deposition of collagen in the capsule. There was staining for transforming growth factor-β and its receptor, platelet-derived growth factor and its receptor, interleukin-1β, and tumor necrosis factor-α in adhesive capsulitis and nonspecific synovitis tissues, compared with minimal staining in normal capsule. Staining was more frequent in snovial cells than in capsular cells. The frequency of cell and matrix staining for transforming growth factor-β, platelet-derived growth factor, and hepatocyte growth factor was greater in adhesive capsulitis tissues than in those from patients with nonspecific synovitis. No difference in the frequency of staining between primary (idiopathic) and secondary adhesive capsulitis was found. The results of this study indicate that adhesive/capsulitis involves both synovial hyperplasia and capsular fibrosis. Cytokines such as transforming growth factor-β and platelet-derived growth factor may be involved in the inflammatory and fibrotic processes in adhesive capsulitis. Matrix-bound transforming growth factor-β may act as a persistent stimulus, resulting in capsular fibrosis. Understanding the basic pathophysiology of adhesive capsulitis is an important step in the development of clinically useful antifibrotic agents that may serve as novel treatments for patients with this condition.     

Intracapsular implant rupture: MR findings of incomplete shell collapse

The objective of this study was to determine the frequency and significance of the MR findings of incomplete shell collapse for detecting implant rupture in a series of surgically removed breast prostheses. MR images of 86 breast implants in 44 patients were studied retrospectively and correlated with surgical findings at explanation. MR findings included (a) complete shell collapse (linguine sign), 21 implants; (b) incomplete shell collapse (subcapsular line sign, teardrop sign, and keyhole sign), 33 implants; (c) radial folds, 31 implants; and (d) normal, 1 implant. The subcapsular line sign was seen in 26 implants, the teardrop sign was seen in 27 implants, and the keyhole sign was seen in 23 implants. At surgery, 48 implants were found to be ruptured and 38 were intact. The MR findings of ruptured implants showed signs of incomplete collapse in 52% (n = 25), linguine sign in 44% (n = 21), and radial folds in 4% (n = 2). The linguine sign perfectly predicted implant rupture, but sensitivity was low. Findings of incomplete shell collapse improved sensitivity and negative predictive values, and the subcapsular line sign produced a significant incremental increase in predictive ability. MRI signs of incomplete shell collapse were more common than the linguine sign in ruptured implants and are significant contributors to the high sensitivity and negative predictive values of MRI for evaluating implant integrity.     

Post-operative progress of dystonia patients following globus pallidus internus deep brain stimulation

In the current era of functional surgery for movement disorders, deep brain stimulation (DBS) of the globus pallidus internus (GPi) is emerging as the favoured intervention for patients with dystonia. Here we report our results in 20 patients with medically intractable dystonia treated with GPi stimulation. The series comprised 14 patients with generalized dystonia and six with spasmodic torticollis. Although comparisons were limited by differences in their respective neurological rating scales, chronic DBS clearly benefited both patient groups. Data conveying the rate of change in neurological function following intervention are also presented, demonstrating the gradual but progressive and sustained nature of improvement following stimulation of the GPi in dystonic patients.