Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration.
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Adult↗
Biomedical subjects
D E McNeil
Publications and source records attributed to D E McNeil.
Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: a cost-effective model.
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.
Age Distribution↗
Comorbid genetic diseases, von Hippel-Lindau disease and spinocerebellar ataxia type 2, confounding the diagnosis of cerebellar dysfunction in an adolescent.
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.
Adolescent↗
Victims and families of violent psychiatric patients.
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.
Adolescent↗
Second-trimester fetoscopy and fetal blood sampling: current limitations and problems.
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Adult↗
The child with divergence paresis.
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.
Acute Disease↗