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1.
Mol Genet Metab ; 102(3): 326-38, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21176882

ABSTRACT

The Research Challenges in CNS Manifestations of Inborn Errors of Metabolism workshop was designed to address challenges in translating potential therapies for these rare disorders, and to highlight novel therapeutic strategies and innovative approaches to CNS delivery, assessment of effects and directions for the future in the treatment of these diseases. Therapies for the brain in inborn errors represent some of the greatest challenges to translational research due to the special properties of the brain, and of inborn errors themselves. This review covers the proceedings of this workshop as submitted by participants. Scientific, ethical and regulatory issues are discussed, along with ways to measure outcomes and the conduct of clinical trials. Participants included regulatory and funding agencies, clinicians, scientists, industry and advocacy groups.


Subject(s)
Biomedical Research , Central Nervous System , Metabolism, Inborn Errors/diagnosis , Metabolism, Inborn Errors/therapy , Animals , Biomedical Research/ethics , Biomedical Research/trends , Central Nervous System/pathology , Clinical Trials as Topic/ethics , Humans , Metabolism, Inborn Errors/physiopathology , Rare Diseases/therapy
3.
Clin Neurol Neurosurg ; 103(4): 216-9, 2001 Dec.
Article in English | MEDLINE | ID: mdl-11714564

ABSTRACT

The authors report a 15-year-old female who presented with difficulties in ambulation as well as difficulties with balance and penmanship. She had a known genetic risk of von Hippel-Lindau (VHL; MIM 193300) disease, with a unique VHL mutation, but had no tumors of the brain or spine to explain her symptoms. Laboratory analysis of peripheral blood lymphocytes was targeted at genetic loci associated with ataxic disorders. Allelic expansion of the ataxin-2 gene was identified. Spinocerebellar ataxia type 2 (SCA2) was diagnosed as a comorbid genetic condition in this patient.


Subject(s)
Chromosomes, Human, Pair 12/genetics , Proteins/genetics , Spinocerebellar Ataxias/complications , Spinocerebellar Ataxias/diagnosis , von Hippel-Lindau Disease/complications , von Hippel-Lindau Disease/diagnosis , Adolescent , Ataxins , Atrophy , Cerebellum/pathology , Diagnosis, Differential , Female , Genes, Dominant , Humans , Magnetic Resonance Imaging , Nerve Tissue Proteins , Prognosis , Spinocerebellar Ataxias/genetics , Trinucleotide Repeats , von Hippel-Lindau Disease/genetics
4.
Med Pediatr Oncol ; 37(4): 349-56, 2001 Oct.
Article in English | MEDLINE | ID: mdl-11568898

ABSTRACT

BACKGROUND: We undertook a cost-benefit analysis of screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndrome (BWS), a known cancer predisposition syndrome. The purpose of this analysis was twofold: first, to assess whether screening in children with BWS has the potential to be cost-effective; second, if screening appears to be cost-effective, to determine which parameters would be most important to assess if a screening trial were initiated. PROCEDURES: We used data from the BWS registry at the National Cancer Institute, the National Wilms Tumor Study (NWTS), and large published series to model events for two hypothetical cohorts of 1,000 infants born with BWS. One hypothetical cohort was screened for cancer until a predetermined age, representing the base case. The other cohort was unscreened. For our base case, we assumed: (a) sonography examinations three times yearly (triannually) from birth until 7 years of age; (b) screening would result in one stage shift downward at diagnosis for Wilms tumor and hepatoblastoma; (c) 100% sensitivity and 95% specificity for detecting clinical stage I Wilms tumor and hepatoblastoma; (d) a 3% discount rate; (e) a false positive result cost of $402. We estimated mortality rates based on published Wilms tumor and hepatoblastoma stage specific survival. RESULTS: Using the base case, screening a child with BWS from birth until 4 years of age results in a cost per life year saved of $9,642 while continuing until 7 years of age results in a cost per life-year saved of $14,740. When variables such as cost of screening examination, discount rate, and effectiveness of screening were varied based on high and low estimates, the incremental cost per life-year saved for screening up until age four remained comparable to acceptable population based cancer screening ranges (< $50,000 per life year saved). CONCLUSIONS: Under our model's assumptions, abdominal sonography examinations in children with BWS represent a reasonable strategy for a cancer screening program. A cancer screening trial is warranted to determine if, when, and how often children with BWS should be screened and to determine cost-effectiveness in clinical practice.


Subject(s)
Beckwith-Wiedemann Syndrome/epidemiology , Hepatoblastoma/epidemiology , Kidney Neoplasms/epidemiology , Liver Neoplasms/epidemiology , Mass Screening/economics , Wilms Tumor/epidemiology , Age Distribution , Beckwith-Wiedemann Syndrome/diagnostic imaging , Child , Child, Preschool , Cohort Studies , Comorbidity , Cost-Benefit Analysis , Female , Hepatoblastoma/diagnostic imaging , Humans , Infant , Kidney Neoplasms/diagnostic imaging , Liver Neoplasms/diagnostic imaging , Male , Registries , Sensitivity and Specificity , Sex Distribution , Survival Analysis , Ultrasonography , United States/epidemiology , Wilms Tumor/diagnostic imaging
5.
Surv Ophthalmol ; 42(6): 571-6, 1998.
Article in English | MEDLINE | ID: mdl-9635905

ABSTRACT

Divergence paralysis is a rare clinical entity that causes a comitant esotropia at distance. While this is usually benign and self-limited, there are reports of divergence paralysis associated with brain tumors, central nervous system syphilis, trauma, and multiple sclerosis. We studied a 14-year-old girl who presented with diplopia and was found to have divergence paralysis. Magnetic resonance imaging disclosed a large pontomedullary glioma.


Subject(s)
Brain Neoplasms/complications , Esotropia/etiology , Glioma/complications , Oculomotor Nerve Diseases/etiology , Acute Disease , Adolescent , Biopsy , Brain Neoplasms/diagnosis , Brain Neoplasms/therapy , Combined Modality Therapy , Diplopia/diagnosis , Diplopia/etiology , Diplopia/therapy , Esotropia/diagnosis , Esotropia/therapy , Female , Follow-Up Studies , Glioma/diagnosis , Glioma/therapy , Humans , Magnetic Resonance Imaging , Medulla Oblongata/pathology , Oculomotor Nerve Diseases/diagnosis , Oculomotor Nerve Diseases/therapy , Pons/pathology
6.
Bull Am Acad Psychiatry Law ; 14(2): 131-9, 1986.
Article in English | MEDLINE | ID: mdl-3730626

ABSTRACT

Previous studies that have addressed the issue of violence committed by psychiatric patients have primarily been concerned with determining the incidence of violence and defining the characteristics of the offenders. This study addresses the issues of who are the likely victims when psychiatric patients are violent and what are the situational and interpersonal factors that relate to this violence. Medical records of 300 patients admitted to a locked university-based short-term treatment unit were extensively reviewed to assess the presence or absence of preadmission violence. Fifteen percent of the 300 patients assaulted another person within two weeks prior to admission. Fifty-four percent of the violent patients assaulted a family member. There were no differences in demographic characteristics between violent patients who assaulted a family member and violent patients who assaulted someone outside the family, except for with whom the violent patient was living at the time of the assault. Patients who assaulted a family member were significantly more likely to live with family than were patients who assaulted someone outside the family. Sixty-four percent of the patients who assaulted a family member planned to return home to their family after discharge. We identified four types of families within which patients assaulted family members: multiple mental illness families, multiple violent families, delayed help-seeking families, and prompt help-seeking families. The implications of our findings for prevention of future violence are discussed, including the issue of outpatient civil commitment.


Subject(s)
Family , Mental Disorders/psychology , Violence , Adolescent , Adult , Aged , Female , Humans , Interpersonal Relations , Male , Middle Aged , Patient Acceptance of Health Care , Patient Discharge
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