Neuropathology and Molecular Studies of a Patient with Tourette Syndrome and Huntington Disease

This paper reviews the association of Huntington's Disease (HD) and tic disorder or Tourette Syndrome (TS) We also present the results of a follow-up study of a male with childhood-onset TS and adult-onset HD who died at 45 years of age. The developmental course and results of neuropathologic and molecular studies of this patient are reported. This is the first case of childhood onset of TS with adult onset of HD reported who has come to autopsy. A developmental model for childhood and adult neuropsychiatric disorders is presented.     

A model for assessing information retrieval and application skills of medical students.

PURPOSE: To develop and evaluate a model for assessing information retrieval and application skills, and to compare the performances on the assessment exercises of students who were and were not instructed in these skills. METHOD: The authors developed a set of four examination stations, each with multiple subtasks, and administered the exams to students at two medical schools. Students at one school had intensive instruction in literature searching and filtering skills for information quality (instructed group), and those at the other school had minimal instruction in these areas (uninstructed group). The stations addressed pediatrics content and the skills of searching Medline and the World Wide Web, evaluating research articles, evaluating the accuracy of information from the Web, and using the information to make recommendations to patients. The authors determined the psychometric characteristics of the stations and compared the performances of the two groups of students. RESULTS: Students in the instructed group performed significantly better and with less variability than the uninstructed group on four tasks and no differently on seven tasks. There was no task on which the uninstructed group performed significantly better than the instructed group. CONCLUSION: The prototype stations showed predictable differences across curricula, indicating that they have promise as assessment tools for the essential skills of information retrieval and application.     

Recent trends in early outcome of adult patients after heart transplantation: a single-institution review of 251 transplants using standard donor organs.

Older age, prior transplantation, pulmonary hypertension, and mechanical support are commonly seen in current potential cardiac transplant recipients. Transplants in 436 consecutive adult patients from 1994 to 1999 were reviewed. There were 251 using standard donors in 243 patients (age range 18-69 years). To emphasize recipient risk, 185 patients who received a nonstandard donor were excluded from analysis. The indications for transplant were ischemic heart disease (n = 123, 47%), dilated cardiomyopathy (n = 82, 32%), and others (n=56, 21%). One hundred and forty-nine (57%) recipients were listed as status I; 5 and 6% were supported with an intra-aortic balloon and an assist device, respectively. The 30-d survival and survival to discharge were 94.7 and 92.7%, respectively; 1-year survival was 89.1%. Causes of early death were graft failure (n = 6), infection (n = 4), stroke (n = 4), multiorgan failure (n = 3) and rejection (n = 2). Predictors were balloon pump use alone (OR= 11.4, p =0.002), pulmonary vascular resistance > 4 Wood units (OR = 5.7, p = 0.007), pretransplant creatinine > 2.0 mg/dL (OR = 6.9, p = 0.004) and female donor (OR = 8.3, p = 0.002). Recipient age and previous surgery did not affect short-term survival. Heart transplantation in the current era consistently offers excellent early and 1-year survival for well-selected recipients receiving standard donors. Early mortality tends to reflect graft failure while hospital mortality may be more indicative of recipient selection.     

Methamphetamine dependence increases risk of neuropsychological impairment in HIV infected persons.

Both HIV infection and methamphetamine dependence can be associated with brain dysfunction. Little is known, however, about the cognitive effects of concurrent HIV infection and methamphetamine dependence. The present study included 200 participants in 4 groups: HIV infected/methamphetamine dependent (HIV+/METH+), HIV negative/methamphetamine dependent (HIV-/METH+), HIV infected/methamphetamine nondependent (HIV+/METH-), and HIV negative/methamphetamine nondependent (HIV-/METH-). Study groups were comparable for age, education, and ethnicity, although the HIV-/METH- group had significantly more females. A comprehensive, demographically corrected neuropsychological battery was administered yielding a global performance score and scores for seven neurobehavioral domains. Rates of neuropsychological impairment were determined by cutoff scores derived from performances of a separate control group and validated with larger samples of HIV+ and HIV- participants from an independent cohort. Rates of global neuropsychological impairment were higher in the HIV+/METH+ (58%), HIV-/METH+ (40%) and HIV+/METH- (38%) groups compared to the HIV-/METH- (18%) group. Nonparametric analyses revealed a significant monotonic trend for global cognitive status across groups, with least impairment in the control group and highest prevalence of impairment in the group with concurrent HIV infection and methamphetamine dependence. The results indicate that HIV infection and methamphetamine dependence are each associated with neuropsychological deficits, and suggest that these factors in combination are associated with additive deleterious cognitive effects. This additivity may reflect common pathways to neural injury involving both cytotoxic and apoptotic mechanisms.     

Neurologic complications of reoperative and emergent abdominal aortic reconstruction

Patients undergoing emergent and reoperative abdominal aortic reconstructions are at increased risk for ischemic neurologic complications. Between 1986 and 1992 five patients sustained ischemic injuries to the spinal cord, nerve roots, or lumbosacral plexus. Four patients underwent reoperative aortic procedures including removal of an infected aortobifemoral graft and extra-anatomic bypass (n=3) and aortofemoral graft revision for primary graft failure (n=1). A fifth patient had a ruptured common iliac aneurysm repaired with an aortobifemoral graft. Three patients undergoing reoperative aortic procedures developed lower extremity paraparesis, patchy sensory deficits, and bowel and bladder dysfunction. Physical examination and electromyography localized the injury to the level of the cauda equina or lumbosacral plexus. The other patient in this group developed incomplete T12 paraplegia. Surgical reconstruction resulted in internal iliac exclusion in all four patients. The incidence of neurologic deficits during this study period was 18% (3/17) in patients requiring aortofemoral graft excision for infection. The patient undergoing aneurysm repair was noted to have paraplegia after surgery and died on the fourth postoperative day. Autopsy revealed evidence of multiple emboli to the kidneys, bowel, and spinal cord. Neurologic deficits after reoperative and emergent abdominal aortic reconstructions are uncommon but devastating complications. Of particular concern is the incidence of neurologic deficits after removal of aortofemoral grafts with disruption of collateral flow to the spinal cord and nerve roots. Consideration should be given to maintaining retrograde perfusion of at least one internal iliac artery via common femoral artery reconstruction in these patients.Presented at the Nineteenth Annual Meeting of the Peripheral Vascular Surgery Society, Seattle, Wash., June 5, 1994.     

The diagnostic use of the second oscillatory potential in clinical electroretinography

Of all the electroretinogram (ERG) components (a-wave, b-wave, and oscillatory potentials) only one oscillatory potential, OP₂, was found to be significantly correlated with the absolute intensity of the flash stimulus (i.e., the intensity of the stimulus irrespective of the state of retinal adaptation). Our finding was further confirmed in single cell recordings of lateral geniculate unit activity in rabbits in which peak time of OP₂ was found to correlate better with the geniculate activity. For these reasons we have identified OP₂ as the intensity coding oscillatory potential of the ERG. In order to investigate if this new feature could have some clinical significance, we examined photopic ERGs recorded from patients affected with various retinopathies. In most instances the peak time of OP₂ paralleled that of the b-wave, that is, in the ERG with delayed b-wave the peak time of OP₂ was also delayed, while in ERGs with normal b-wave peak time the peak time of OP₂ was also normal. However, in some conditions (especially in cone-rod diseases) a delayed OP₂ was found in ERGs with normal b-wave peak times.