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At least 19 recordsLinked to original sources

PubMed2006

Autism and Williams syndrome: a case report.

Williams syndrome (WS) is a neurodevelopmental disorder caused by a deletion in the 7q11.23 region which includes at least 17 genes. The presence of autistic features in WS is a controversial issue. While some authors describe WS as the opposite phenotype of autism, recent studies indicate that both share many common characteristics. We report a 12-year-old boy diagnosed as autistic disorder and WS with hemizygosity at the elastin locus and a karyotype of 46,XY,del(7)(q11.21q11.23). Molecular genetic studies have shown that deletion at the elastin gene may account for the cardiovascular abnormalities seen in WS, but autistic features are likely caused by other genes flanking elastin.

Autistic Disorder↗

PubMed2003

Portal hypertension in Williams syndrome: report of two patients.

Williams or Williams-Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations characterized by distinctive facial features, mental disability with unique cognitive and personality profiles, vascular stenoses, growth retardation, and occasional infantile hypercalcemia, caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. However, with the exception of arterial stenoses caused by haploinsufficiency for the elastin gene (ELN), no specific implication of any other gene in the phenotype has been established. We present two patients with portal hypertension leading to splenomegaly and pancytopenia carrying the common 1.5 Mb WBS deletion. We propose this is an additional severe vascular complication of ELN deficiency and discuss the specific characteristics of the portal venous tract that could explain the impact of ELN deficiency in that venous territory. This complication is potentially lethal and should thus be considered in any patient with WBS and splenomegaly.

Adult↗

PubMed1996

Sudden death in Williams syndrome: report of ten cases.

Williams syndrome (WS) is a recognizable pattern of malformation with mental retardation, mild growth deficiency, characteristic facies and temperament, and cardiovascular disease. Sudden death is a recognized complication of WS; however, it is thought to be rare. The clinical features of 10 children with WS who died suddenly are reported here, doubling the number of unexpected deaths reported in the literature. We suggest that sudden death is a more common complication than has been assumed previously. Pathologic findings on the seven autopsy cases implicate two anatomic abnormalities that predispose individuals with WS to sudden death: coronary artery stenosis and severe biventricular outflow tract obstruction. The mechanisms for sudden death for both anatomic subgroups include myocardial ischemia, decreased cardiac output, and arrhythmia. We believe these observations warrant the development of strategies for monitoring patients with WS in an attempt to identify those at increased risk of sudden death.

Aortic Valve↗

PubMed1992

Williams syndrome. Report of a case.

Williams syndrome is a rare anomaly consisting of idiopathic hypercalcemia that is normally accompanied by aortic stenosis, moderate mental retardation, and a characteristic elfin face. Because persons with this syndrome have severe dental abnormalities, it is in the dental or orthodontic clinic that the disease can eventually be detected. A unique case of this type is reported.

Aortic Valve Stenosis↗

PubMed1998

[Neuro-urological findings in Williams syndrome: report of a case].

The Williams syndrome is a relatively rare disease with characteristic facial appearance, mental retardation, growth deficiency, cardiovascular anomalies, hypercalcemia and multiple organic dysfunctions. However, the urological findings of this syndrome (positive in up to 40% of patients) have not been frequently discussed. We present the case of a 6 year-old white girl with this diagnosis and a 3-year history of urinary incontinence. The investigation revealed bladder diverticula and detrusor hyperactivity, which was successfully treated with oxibutimin. We stress the importance of urological investigation, describe the main findings and discuss the pathophysiology and management, which significantly improves the quality of life of these children.

Child↗

PubMed1978

Centenary of the first correct antemortem diagnosis of coronary thrombosis by Adam Hammer (1818--1878): English translation of the original report.

William Heberden (1710--1801), in 1768, described angina pectoris, the classic symptom of ischemic heart disease, 150 years after the discovery of the coronary circulation by William Harvey (1578-1657). Another 110 years had elapsed before the first antemortem diagnosis (confirmed at autopsy) of coronary thrombosis was reported by Adam Hammer in 1878. The patient was a 34 year old man who died some 19 hours after a sudden collapse. Although the patient's clinical features were atypical (such as the absence of angina and the presence of complete heart block) and the autopsy showed vegetative aortic endocarditis that appeared to be causally related to the thrombotic coronary occlusion, Hammer's astute and carefully reasoned bedside diagnosis was history-making and deserves to be so recognized.

Adult↗

PubMed2001

The first mortality follow-up study: the 1841 Report of William Farr (physician) on the mortality of lunatics.

BACKGROUND: In the 1830s in England, there was a great cultural interest in the collection and publishing of all kinds of statistics. The Council of the Statistical Society of London (founded in 1834) commissioned one of its Fellows, Dr William Farr, to investigate and prepare a report on the mortality of patients in the county asylums, with the mortality in a large number of proprietary houses that were licensed to care for patients with mental illness (then called lunatics) ordered for confinement because of their mental condition. Committees of Parliament had investigated the condition of the mentally ill confined to the asylums and taken measures in an attempt to improve their treatment and to correct abuses. RESULTS: Farr collected data from Hanwell, the Middlesex County asylum opened in 1831, and other asylums on annual admissions, resident patients, deaths, discharges, derived years of residence (exposure to risk), and annual mortality rates by duration and as an aggregate. He used similar data from a recent report on a large number of licensed houses. For the best estimate of comparative mortality, an assumed age distribution by sex and rates from the English Life Table No. 1 (constructed by Farr for 1841). CONCLUSION: Farr demonstrated that annual mortality rates were higher at durations 0-1.5 years than at durations 1.5-7.5 years, higher in men than in women, higher in paupers than in other patients, higher in licensed houses than in the Hanwell Asylum, and higher in the 4 large licensed houses than in a collection of smaller ones. COMMENT: A brief sketch of Farr's life is given as a memorial tribute to his pioneer work in vital statistics, life table methodology, public health, and life insurance medicine.

Adolescent↗

PubMed1995

The neuropathology of Williams syndrome. Report of a 35-year-old man with presenile beta/A4 amyloid plaques and neurofibrillary tangles.

OBJECTIVE: To study neuropathologically Williams syndrome in a 35-year-old patient. METHODS: Sections from multiple regions of the brain were examined with luxol fast blue and hematoxylineosin staining, and selected sections were stained with the silver impregnation technique (Bielschowsky technique) and Congo red. In addition, immunohistochemistry with monoclonal antibodies against glial fibrillary acidic protein, beta/A4 amyloid, paired helical filaments, and phosphorylated tau protein was performed on cortical, hippocampal, amygdaloid, and basal ganglian sections. RESULTS: No specific macroscopic or microscopic abnormalities were recognized that are specific for Williams syndrome. The histopathologic examination did, however, demonstrate the presence of Alzheimer-type changes, including beta/A4 amyloid-containing senile plaques and scattered neurofibrillary tangles in neocortex and medial temporal lobe structures (entorhinal cortex, CA1 area of the hippocampus, and amygdala). Plaques were most numerous in the amygdala (7/mm2) and in the entorhinal cortex (4/mm2). Neurofibrillary tangles were less numerous (< 1/mm2), except in the hippocampus, where approximately 2/mm2 were found. CONCLUSIONS: To our knowledge, ours represents the first neuropathologic description of a patient with Williams syndrome. Although Williams syndrome is usually sporadic, familial cases have been reported along with candidate chromosomal loci. If our findings are confirmed in additional patients with Williams syndrome, they may provide clues to other factors that are important in the pathogenesis of senile plaques (with beta/A4 amyloid deposition) and neurofibrillary tangles.

Adult↗

PubMed2003

Speaking volumes.

Many have pondered the potential impact of Mendel's work if Darwin had come across it in his lifetime. Darwin found difficulty with a blending inheritance and natural selection but a new letter suggests he was grappling with a more modern view. Nigel Williams reports.

Biological Evolution↗

PubMed2004

The importance of ignorance.

The need for people to keep their genetic data confidential is crucial to help exploit medical advances, a key British Committee believes. Nigel Williams reports.

Databases, Genetic↗

PubMed2004

Fears grow for amphibians.

Alarm bells have been ringing around the world about the decline in number of many amphibian populations and a new global study deepens concerns about the future of many species. Nigel Williams reports.

Amphibians↗

PubMed2005

Stem cell tensions mount.

The US has been a major battle-ground amongst legislators coming to grips with the issue of embryonic stem cell research but the issue is reaching new heights in Italy. Nigel Williams reports.

Biomedical Research↗

PubMed2005

Animal rights protests build.

Opposition to animal experiments in Britain appears to be extending beyond the labs to other businesses supplying them. Nigel Williams reports.

Animal Rights↗

PubMed2006

Gone, gone and going.

Biomedicine swallows the lion's share of life science funding but there is mounting concern that the health of ecosystems should be demanding more attention. Nigel Williams reports.

Amphibians↗

PubMed2001

BSE uncertainties drag on.

A recent mix-up in studies on brain tissue of animals has set back Britain's efforts to determine human exposure to the BSE agent through contaminated meat products. Nigel Williams reports.

Animals↗

PubMed2001

Data boost to counter gender inequality.

There's much anecdotal evidence that women get a raw deal if they choose a research career but there are hopes that new data gathered by a team of European Union researchers will help their prospects. Nigel Williams reports.

European Union↗

PubMed2002

London home for Crick archive.

Unprecedented access to the archives of Francis Crick, just before the 50th anniversary next year of his famous paper co-authored with James Watson on the proposed double helix structure of DNA, looks set to go ahead. Nigel Williams reports.

Archives↗

PubMed2002

Abbey ambitions to celebrate home of genetics.

A century and a half after the ground-breaking work by Gregor Mendel in establishing the foundation of genetics, efforts are under way to develop a fitting commemoration of his work at his abbey home in Brno. Nigel Williams reports.

Czech Republic↗