Wilson's disease in children: 37-year experience and revised King's score for liver transplantation.

Wilson's disease (WD) is a rare liver-based disorder of copper metabolism. Prognostic criteria described by our group in 1986 to predict death without transplantation have not been universally validated. The clinical features of 88 children were reviewed, retrospectively in 74 and prospectively in 14. Data from the retrospectively recruited patients that died or survived on long-term chelation were used to evaluate the validity of our old scoring system and to devise a new prognostic index, then assessed in the 14 prospectively recruited patients. Using the old scoring system, 5 children scoring > or = 7, the cutoff value for death without transplantation, survived, whereas 4 scoring < or = 7 died (sensitivity 87% and specificity 90%). A new index based on serum bilirubin, international normalized ratio, aspartate aminotransferase (AST), and white cell count (WCC) at presentation identified a cutoff score of 11 for death and proved to be 93% sensitive and 98% specific, with a positive predictive value of 88%. When the new index was evaluated prospectively in 14 patients, it predicted the need for transplantation in only the 4 who required it, although 1 child with a score of 11 survived on medical treatment. In conclusion, the new Wilson Index is more sensitive and specific in predicting mortality without transplantation than the old scoring system, but needs to be validated in a larger number of patients.     

Guidelines for the collection, processing and storage of human bone marrow and peripheral stem cells for transplantation

SUMMARY. There are no current U.K. or international guidelines or regulations covering the production, processing and storage of haemopoietic cells such as to allow their engraftment following myeloablative therapy. This paper seeks to provide such guidelines. It enumerates how quality control and assurance can be applied to this area of transfusion medicine; procedural steps relating to bone marrow harvest on peripheral blood stem cell collection are outlined and recommended doses of nucleated cells suggested for both procedures. General specifications for identification, storage and transportation of bone marrow and peripheral blood stem cells are included and specific laboratory procedures related to the provision of haemopoietic cells for engraftment are outlined. Umbilical cord blood transplants and long-term bone marrow culture are alluded to but these are still in a research phase.     

MR of esthesioneuroblastoma (olfactory neuroblastoma) and appearance after craniofacial resection.

PURPOSETo analyze the MR characteristics of a series of patients with esthesioneuroblastoma and discuss the typical surgery and its postoperative MR appearance.METHODSThe MR studies of 15 patients with the pathologic diagnosis of esthesioneuroblastoma (also known as olfactory neuroblastoma) were retrospectively reviewed and correlated with CT and surgical findings. The postoperative MR studies of 10 patients who underwent craniofacial resection were also reviewed.RESULTSIn all cases the tumors arose in the superior nasal cavity and extended into the ethmoid cells. In some instances the tumors extended into the other paranasal sinuses, orbits, anterior cranial fossa, and cavernous sinus. The tumors were typically expansile and destructive in their growth patterns. Compared with brain gray matter, the tumors were hypointense on T1-weighted images and isointense to hyperintense on T2-weighted images. Nine tumors were heterogeneous and 6 were homogeneous. Contrast enhancement ranged from mild to marked. MR was useful for characterizing the various tissues and distinguishing fluid in the postoperative nasal cavity.CONCLUSIONSEsthesioneuroblastoma, although an uncommon tumor, may be suspected in lesions of the superior nasal cavity demonstrating both expansile and destructive growth properties. The MR findings are otherwise nonspecific. MR is the imaging modality of choice for depicting local tumor extension and evaluating for recurrence after craniofacial resection.     

Cerebral glucose metabolism in Parkinson's disease with and without dementia.

Although cognitive impairment is commonly associated with Parkinson's disease, the relative importance of cortical and subcortical pathologic changes to the development of dementia is controversial. Characteristic abnormalities in cortical glucose metabolism have been reported previously in Alzheimer's disease, a disease in which cortical changes predominate. We measured cerebral glucose metabolism with positron emission tomography in 20 control subjects and in 14 patients with PD with mental status ranging from normal to severely demented to determine whether changes in cortical glucose metabolism occur in early PD and whether the degree and pattern of metabolic change relate to the severity of dementia. The patients were divided into demented and nondemented groups according to the results of neuropsychological assessment. Age-adjusted covariance analyses were performed, since the age distribution varied between groups. The nondemented patients with PD showed widespread cortical glucose hypometabolism without any selective temporoparietal defects. The pattern of glucose hypometabolism seen in the demented patients with PD resembled that described in patients with Alzheimer's disease; ie, there was a global decrease in glucose metabolism, with more severe abnormalities observed in the temporoparietal regions.     

Neuropsychological and psychiatric correlates of intractable pseudoseizures.

Psychogenic seizures can mimic convulsive epilepsy and with repetitive attacks, iatrogenic complications from aggressive treatment of status epilepticus can occur. We studied neuropsychiatric features of 20 patients in whom psychogenic seizures were intractable and at times continuous. Nineteen of 20 patients seen were female, and all but one were under 40 years of age. All had convulsive attacks resistant to various medications, normal neurological examinations, and negative imaging studies and electroencephalograms (EEGs). Sixteen had previous evidence of epilepsy and the other four had epileptic relatives. Seizures were atypically prolonged, included back arching and pelvic thrusting, and persisted despite intravenous diazepam and therapeutic phenytoin and phenobarbital levels. Seizures terminated spontaneously in five, were stopped by suggestion in four, and persisted until respiratory arrest or elective intubation in 11. Ten patients had conversion disorder, six borderline or mixed personality disorder and four mental retardation. Fifteen had had some precipitating stressor and the remainder had histories of exhibiting attention-seeking behaviour. Nine of 10 patients with conversion disorder had 'conversion V' Minnesota Multiphasic Personality Inventory (MMPI) profiles, while personality disorder patients had elevation of several psychopathological scales. Patients with conversion disorder gradually improved with anticonvulsant discontinuation, while retarded individuals were helped by behaviour modification, situational change or neuroleptics. Personality disorder patients continued to have attacks and eventually discontinued follow-up. Clinical evidence of non-epileptic seizures includes clinical atypicality and long duration, exacerbation by medications and frequent attacks despite normal examination and studies.(ABSTRACT TRUNCATED AT 250 WORDS)     

The epidemiology of myasthenia gravis in central and western Virginia.

We conducted a study of the epidemiology of myasthenia gravis (MG) in four locations in central and western Virginia from 1970 through 1984. The population surveyed was 555,851 in 1984. A total of 73 new cases of MG occurred during the survey period, producing an overall average annual incidence rate of 9.1 per million. The point prevalence rate in 1980 was 13.4 per 100,000, and in 1984 it was 14.2. Approximately 15% of the population was black, and we found that incidence and prevalence rates for the black population were higher than the corresponding white population. When the population was subdivided into <50 and 50+ age groups, the incidence and prevalence were significantly higher in the older group. The rates we report here are higher than rates reported from any other locality. The reasons for the higher rates include optimal case identification, survey of a population with a higher incidence, and increasing aging of the population.     

Residents can be trained to detect abdominal aortic aneurysms using personal ultrasound imagers: a pilot study.

Our objective was to test the hypothesis that internal medicine residents can be trained to screen for abdominal aortic aneurysm (AAA) using personal ultrasound imagers. We trained 5 randomly chosen internal medicine residents to image the abdominal aorta for patients with risk factors for AAAs using personal ultrasound imagers. Residents were trained in 3 or 4 one-on-one sessions with an instructor. To be eligible, patients had to be older than 65 years and have hypertension. After training, each of the 5 residents studied 3 patients independently. In 12 of the residents' 15 unsupervised studies, their abdominal aorta measurements were within 5 mm of the instructor's measurements with standard echocardiography (mean difference 3 mm, range 0-6 mm). Residents detected 3 previously unknown AAAs measuring 5.2, 4.2, and 3.9 cm in diameter. We conclude residents can be trained to image the abdominal aorta with personal ultrasound imagers and to identify AAAs in patients at risk.