Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation--a 5 year follow up.

Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient's clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam.

Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.

OBJECTIVE: To provide clinical clues to differential diagnosis in patients with chorea and other movement disorders with blood acanthocytes. METHODS: We present a long-term video accompanied follow-up of six Caucasian patients with neuroacanthocytosis from several centers, three diagnosed with chorea-acanthocytosis (ChAc): 34-y.o.(no.1), 36-y.o.(no.2), 43-y.o.(no.3), two diagnosed with McLeod Syndrome (MLS): 52-y.o.(no.4), 61-y.o.(no.5) and one 63-y.o.(no.6), a brother of no.5, with clinical suspicion of MLS. Additionally we report pathological findings of the mother of two brothers with MLS reported in our series with acanthocytes on peripheral blood smear RESULTS: The patients had an unremarkable family history and were asymptomatic until adulthood. Patients no. 1,2,4,5,6 developed generalized chorea and patient no. 3 had predominant bradykinesia. Patients no. 1,2,3 had phonic and motor tics, additionally patients no. 1 and 2 exhibited peculiar oromandibular dystonia with tongue thrusting. In patients no. 2 and 3 dystonic supination of feet was observed, patient no. 3 subsequently developed bilateral foot drop. Patients no. 2 and 4 had signs of muscle atrophy. Tendon reflexes were decreased or absent and electroneurography demonstrated sensorimotor neuropathy in patients no. 1,2,3,4,5, except no. 6. Generalized seizures were seen in patients no. 2,3,5,6 and myoclonic jerks in patient no. 1. Cognitive deterioration was reported in patients no. 1,2,3,5,6. Serum creatine kinase levels were elevated in all six patients. CONCLUSION: We highlight the variability of clinical presentation of neuroacanthocytosis syndromes and the long time from the onset to diagnosis with the need to screen the blood smears in uncertain cases, however, as in one of our cases acanthocytes may even be not found. Based on our observations and data from the literature we propose several red flags that should raise the suspicion of an NA syndrome in a patient with a movement disorder: severe orofacial dyskinesia with tongue and lip-biting (typical of ChAc), feeding dystonia, psychiatric and cognitive disturbances, seizures, peripheral neuropathy, elevation of creatine kinase, elevation of transaminases, hepatosplenomegaly, cardiomyopathy and arrhythmias, and an X-linked pattern of inheritance (McLeod Syndrome, MLS).

Information management in the age of managed competition.

BACKGROUND: Today's information requirements differ from those of the past, in terms of both the internal and external reporting needs of health care organizations. Demands for information are currently generated by physicians, quality managers, total quality management (TQM) teams, marketing staff, financial managers, regulators, insurance plans, accreditation agencies, purchasers, coalitions, and other customers. DISCUSSION: Health care organizations respond to these demands in different ways, depending on their size and type. Six aspects of information needs that would be relevant under managed competition are analyzed: standardization, linkages among data banks, risk adjustment, comprehensive institution-based indicators and information systems, comprehensive population-based indicators and information systems, and methods for protecting confidentiality of patient records. RECOMMENDATIONS: Six recommendations to hospitals/managed care plans that decide to establish information management systems are made: set goals, set priorities, describe current system, identify external data sources, develop (a plan), and check back (reassess).

Characteristics of private-sector managed care for mental health and substance abuse treatment.

OBJECTIVE: This study examined diversity during the late 1980s in managed care programs for mental health, alcohol abuse, and drug abuse to identify ways in which research can generate more meaningful data on the effectiveness of utilization review programs. METHODS: Telephone interviews were conducted with representatives of utilization review programs for employee health insurance plans in 31 firms that employed 2.1 million people in 1990. Questions addressed qualifications of personnel, clinical criteria to authorize care, integration with employee assistance plans, penalties for not complying with utilization review procedures, outpatient review, and carve out of mental health and substance abuse review. RESULTS: Large variations in utilization review programs were found. Programs employed a range of review personnel and used a variety of clinical criteria to authorize care. More than two-thirds did not carve out mental health and substance abuse review from medical-surgical review. Some firms' employee assistance plans were integrated with utilization review programs, while others remained unintegrated. Penalties for not following program procedures varied widely, as did review of outpatient services. CONCLUSIONS: Because of trends toward even more diversity in utilization review programs in the 1990s, research that identifies the specific features of managed care programs that hold most promise for controlling costs while maintaining quality of care will increasingly be needed.

A decision model and cost-effectiveness analysis of colorectal cancer screening and surveillance guidelines for average-risk adults.

OBJECTIVES: Guidelines for colorectal cancer screening and surveillance in people at average risk and at increased risk have recently been published by the American Gastroenterological Association. The guidelines for the population at average risk were evaluated using cost-effectiveness analyses. METHODS: Since colorectal cancers primarily arise from precancerous adenomas, a state transition model of disease progression from adenomatous polyps was developed. Rather than assuming that polyps turn to cancer after a fixed interval (dwell time), such transitions were modeled to occur as an exponential function of the age of the polyps. Screening strategies included periodic fecal occult blood test, flexible sigmoidoscopy, double-contrast barium enema, and colonoscopy. Screening costs in 1994 dollars were estimated using Medicare and private claims data, and clinical parameters were based upon published studies. RESULTS: Cost per life-year saved was $12,636 for flexible sigmoidoscopy every 5 years and $14,394 for annual fecal occult blood testing. The assumption made for polyp dwell time critically affected the attractiveness of alternative screening strategies. CONCLUSIONS: Sigmoidoscopy every 5 years and annual fecal blood testing were the two most cost-effective strategies, but with low compliance, occult blood testing was less cost-effective. Lowering colonoscopy costs greatly improved the cost-effectiveness of colonoscopy every 10 years.