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.     

An evaluation of provider-related and disease-related morbidity in a level I university trauma service: directions for quality improvement.

As the number of preventable trauma-related deaths plateaus as a result of trauma system development, new directions for quality improvement in trauma care must come from analyzing morbidity with standardized methods to establish thresholds for provider-related and disease-specific complications. To establish such thresholds and determine priorities for improvements in quality all trauma patients who died, who were admitted to the ICU or OR, who were hospitalized for more than 3 days, or who were interfacility transfers to an academic trauma service, were concurrently evaluated for 1 year. All complication events were defined, reviewed, tabulated, and classified using 135 categories of complications. These categories were subdivided into provider-specific and disease-specific complications. Provider-related complications were classified as justified or unjustified to allow identification of events with a potential for improvement. A total of 1108 patients were admitted (mean ISS, 17); there were 97 deaths. Three potentially preventable deaths were identified, 857 complication events were identified, and 285 provider-related complications were responsible for errors with potential for improvement in 59 events (21%). Disease-specific morbidity was primarily related to infection; pneumonia accounted for 36% of all infectious complications and systemic infection for only 8.6% of infectious complications. Organ failure and other major systemic complications occurred in 2%-8% of patients. This type of analysis forms the basis on which to determine thresholds of provider-specific and disease-specific morbidity in a trauma hospital and serves as a guide to direct efforts toward continuous quality improvement.     

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.

     

Methylmercury poisoning: Long-term clinical,radiological, toxicological,and pathological studies of an affected family

For 3 months in 1969 a family in the United States that included a pregnant mother consumed pork containing methylmercury. Children, aged 20, 13, and 8 years and a neonate, developed severe neurological signs. Twenty-two years later, the 2 oldest had cortical blindness or constricted visual fields, diminished hand proprioception, choreoathetosis, and atentional deficits. Magnetic resonance images showed tissue loss in the calcarine and parietal cortices and cerebellar folia. The youngest had quadriplegia, blindness, and severe mental retradation until their deaths. The brain of the 8-year-old who died at age 30 showed cortical atrophy, neuronal loss, and gliosis, most pronounced in the paracentral and parietooccipital regions. The total mercury level in formalin-fixed, left occipital cortex was 1,974 ng/gm as measured by atomic absorption. Regional brain mercury levels correlated with extent of brain damage. A control patient had 38.5 ng of mercury/gm in the occipital cortex. Systemic organs in the patient and a control subject had comparable mercury levels. In mercury-intoxicated rats, we found that only 5 to 10% of total brain mercury was lost by formalin fixation. Brain inorganic mercury in the patient ranged from 82 to 100%. Since inorganic mercury crosses the blood-brain barrier poorly, biotransformation of methyl to inorganic mercury may have occurred after methylmercury crossed the blood-brain barrier, accounting for its persistence in brain and causing part of the brain damage.     

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.     

Role of frozen section and clinical parameters in distinguishing benign from malignant follicular neoplasms of the thyroid.

The determination of malignancy preoperatively or intraoperatively is difficult in patients with follicular neoplasms of the thyroid. This study reviews a series of 395 patients treated for follicular neoplasms at the Vancouver General Hospital and the British Columbia Cancer Agency between the years of 1955 and 1988, 198 of whom had frozen section at the time of surgery. Frozen section was 79% accurate in differentiating follicular adenomas from carcinomas, with a sensitivity of 52% and a specificity of 100%. The positive predictive value of a frozen section showing carcinoma was 100%, and the negative predictive value was 73%. An incorrect diagnosis of a benign lesion was made in 21% of patients in whom the final diagnosis by fixed section was carcinoma. These same statistics were calculated for patients aged greater than 50 years, tumor size greater than 3 cm, and patients with a history of previous neck irradiation, three clinical factors shown in a previous study to be strong prognostic indicators of malignancy. The results were compared with those found by frozen section. The implications of these results in terms of patient management are discussed.     

Platelet phospholipid synthesis in Alzheimer's disease

The rates of incorporation of [3H]choline and [3H]ethanolamine into membrane phospholipids of platelets from 22 drug-free Alzheimer's disease patients and 18 normal elderly controls were compared. No significant differences between groups were found. If alterations in lipid metabolism are involved in the pathophysiological processes underlying Alzheimer's disease, such alterations are not manifest in measures of radiolabeled base incorporation into platelet phospholipids.