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Hemispherectomy Outcomes Favorable in Two Reports.
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William Harvey's report on Old Parr's autopsy.
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What is the risk of sham surgery in Parkinson disease clinical trials? A review of published reports.
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Infective endocarditis in a patient with Williams' syndrome--case report.
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Quality. A national effort for quality reporting.
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Historical case report of Sir William Johnson, the Mohawk Baronet.
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[Diagnostic criteria in the William-Beuren syndrome. Report of 5 cases].
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[Supravalvular aortic stenosis (Williams-Beuren syndrome). Report of a case].
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Pulmonary hypertension associated with portal hypertension in a child with Williams syndrome--a case report.
A 14-year-old white female with Williams syndrome and portal hypertension presented in shock; at autopsy she was found to have grade II to VI vascular changes of pulmonary hypertension. This case demonstrates the association of portal hypertension and pulmonary hypertension in a pediatric patient.
[Intractable infective endocarditis associated with supraaortic stenosis in Williams syndrome: a case report].
A 17-year-old man with supravalvular aortic stenosis associated with Williams syndrome was admitted to our hospital for intensive treatment for intractable infective endocarditis. The patient had a history of percutaneous balloon valvuloplasty for aortic stenosis in 1992. He was well until late in 1999, when he had a high temperature after dental work-up. The diagnosis was infective endocarditis but antibiotic therapy was not effective. He was transferred to our clinic. Transthoracic echocardiography demonstrated bicuspid aortic valve, supraaortic stenosis, mitral valve prolapse with severe regurgitation and scattered vegetations on the anterior mitral and aortic valves. In addition, transesophageal echocardiography showed innumerable mobile vegetations located from Valsalva's sinus to the descending aorta. Aortic root and arch replacement with a homograft and mitral valve replacement with an artificial valve were successfully performed to eliminate the infective endocarditis. In the present patient, the flow jet across the supraaortic stenosis seemed to cause a predisposition to severe endocarditis.
The quality of published adverse drug event reports.
BACKGROUND: Case reports of adverse drug events (ADEs) are an important source of information. OBJECTIVE: To determine what variables are reported in ADE case reports, how causality was assessed for each report, and what criteria are specified for publishing ADE case reports. METHODS: A descriptive analysis of highly significant ADE case reports published in English over a 20-year period was performed. Main outcome measures included frequency distributions for the types of variables reported. The presence of causality assessment and the criteria for submitting an ADE report to practitioner journals were also examined. RESULTS: A highly significant ADE was described in 1520 published case reports during the study period. Three patient variables were reported >90% of the time, while 12 others were reported <25% of the time. Only 1 drug variable was reported >90% of the time; 6 others were reported 14-74% of the time. Most of the relevant ADE variables were reported most often. Added information for drug interactions, medication errors, and allergic drug reactions were reported 61-99% of the time. Less than 1% of ADE reporters objectively assessed the probability of the ADE. All but one journal publishing the most ADE reports did not require such assessment. CONCLUSIONS: Professional journals might consider stricter requirements for publishing ADE reports. As a minimum, requirements should include an objective assessment of ADE causality, with explicit recognition in the published text and abstract of the report.
Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome.
We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral karyotyping and first assigned to chromosome 22. Subsequent fluorescence in situ hybridization (FISH) experiments showed that it consisted of satellite material only. Refinement of the 7q36 breakpoint was performed with several FISH probes, showing a deletion distal to the triphalangeal thumb (TPT) region. The phenotype of the patient principally results from the microdeletion of the 7q11.23; the small deletion at 7qter and the extra satellite material may not be of clinical significance.
Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome.
We report two children with typical Williams syndrome facial appearance, growth deficiency and developmental delay. Both had supravalvular aortic stenosis (SVAS) and peripheral pulmonary stenosis (PPS), but no hypercalcemia. Chromosomal study in the first case, a 40-day-old girl, revealed a cytogenetically visible proximal interstitial deletion of the 7q11.22-11.23 segment. Another patient, a 3-year-old boy, with a normal karyotype, had milder phenotype with spontaneous remission of SVAS and PPS. Both patients showed allelic loss of the elastin (ELN) gene, exhibiting a submicroscopic deletion at 7q11.23, which was detected by fluorescence in situ hybridization (FISH). The results support the usefulness of FISH for detection of ELN gene deletion as an initial diagnostic assay for patients with SVAS or Williams syndrome. To our knowledge, these are the first cases of Williams syndrome in Taiwanese patients to be proven clinically, cytogenetically and by molecular analysis.
Growth hormone treatment in a child with Williams-Beuren syndrome: a case report.
UNLABELLED: Growth retardation is a consistent finding in Williams-Beuren syndrome. The cause of short stature in this syndrome is unknown. Endocrine studies have failed to reveal abnormalities in the growth hormone-insulin-like growth factor I axis. We report a boy with confirmed Williams-Beuren syndrome, who was found to have classical growth hormone deficiency and responded well to growth hormone therapy. CONCLUSION: Although growth hormone deficiency is not likely to be a common cause of short stature in Williams-Beuren syndrome, we nevertheless recommend evaluation of the growth hormone-insulin-like growth factor I axis in all cases.
Cardiac arrest under anesthesia in a pediatric patient with Williams syndrome: a case report.
Serial cardiac arrests occurred during the induction of a 3-year-old boy for elective 1-sided orchiopexy surgery and evaluation under anesthesia of previously placed ear tympanoplasty tubes. The child's history included Williams syndrome along with hypercalcemia and mild supravalvular aortic stenosis. The initial arrests included significant ST wave changes along with profound brodycardia, hypotension, and pulseless electrical activity requiring full resuscitation twice. The patient was transferred on an emergency basis to the intensive care unit (the surgery was cancelled), and a heart catheterization was scheduled for the following morning. The patient experienced several cardiac arrests during the cardiac catheterization procedure, necessitating emergency extracorporeal membrane oxygenation cannulation and immediate transfer to the operating room for emergency cardiac surgery. A thorough preoperative cardiac workup, including cardiac catheterization, electrocardiogram, and echocardiogram, may decrease mortality and morbidity in patients with Williams syndrome. However, cardiac catheterization has been associated with increased risk in this patient population.
Primary renal carcinoid tumor managed with laparoscopic partial nephrectomy.
Primary renal carcinoid is a rare tumor, with only 39 cases reported. These tumors have historically been managed with either open partial nephrectomy or open radical nephrectomy. We describe a patient with a primary renal carcinoid tumor successfully treated with laparoscopic partial nephrectomy. To our knowledge, this is the first such case reported.
Primary hypothyroidism in a 12-year-old girl with a suprasellar pituitary mass: rapid regression after thyroid replacement therapy: case report.
The authors report on a 12-year-old girl with a suprasellar mass and primary hypothyroidism in whom the lesion promptly regressed following initiation of thyroid replacement therapy. Based on this experience, it is suggested that secondary pituitary hyperplasia be included in the differential diagnostic considerations of a suprasellar lesion in a child and that resolution of the hyperplasia may occur in a matter of weeks rather than months as previously reported.