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At least 811 records · Page 45Linked to original sources
PubMed2006

Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome.

The mouse mutant Ozzy, originating from an ENU-mutagenesis programme, displays a head bobbing phenotype. We report here that Ozzy mice show a clear deficit in vestibulo-ocular reflex (VOR). Micro-CT scanning of the inner ears showed narrowing and truncations of at least one of the semicircular canals and loss of the ampullae. Frequency-specific auditory-evoked brainstem response (ABR) tests revealed a slight threshold increase in the middle frequency range compared to wild-type littermates. Linkage analysis localised the gene in a 5.5-cM region on chromosome 2. Subsequently, a 499 T-->A missense mutation was identified in Jag1, leading to a substitution of an evolutionary conserved tryptophane (W167R). Mutations in the human homologue of Jag1 cause Alagille syndrome (AGS), an autosomal dominant disorder associated with liver, heart, eye and skeletal abnormalities, accompanied by a characteristic facies. In human patients, it occasionally affects other organ systems like the kidney or the inner ear. Liver disease is the main diagnostic factor for AGS. Ozzy mice showed significantly less intrahepatic bile ducts than wild-type littermates. Thirty-seven percent of Ozzy mice showed heart defects. No eye or vertebral abnormalities could be detected. In conclusion, Ozzy mice show two of the major and one minor characteristic of AGS.

Alagille Syndrome↗
PubMed2004

TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype.

The gene for TFII-I, a widely expressed transcription factor, has been localized to an interval of human chromosome 7q11.23 that is commonly deleted in Williams syndrome (WS). The clinical phenotype of WS includes elfin facies, infantile hypercalcemia, supravalvular aortic stenosis, hyperacusis and mental retardation. The WS cognitive profile (WSCP) is notable for the differential impairment of visual-spatial abilities with relative sparing of verbal-linguistic function. Fine mapping of individuals with WS has revealed a close association between deletion of TFII-I and the WSCP. To determine the plausibility of the hypothesis that hemizygous deletion of TFII-I contributes to the WSCP, we have examined the anatomic distribution of TFII-I RNA and protein isoforms in brains from adult and embryonic mice. Our studies show that early in development, TFII-I expression is widespread and nearly uniform throughout the brain. In adult brain, TFII-I protein is present exclusively in neurons. Highest levels of expression are observed in cerebellar Purkinje cells and in hippocampal interneurons. TFII-I immunoreactivity is distinct from that of the related protein, TFII-IRD1, which is also localized to the region of human chromosome 7 deleted in WS. The expression pattern of TFII-I in mouse brain parallels regions in human brain which have been shown to be anatomically and functionally altered in humans with WS. These observations are consistent with the hypothesis that deletion of the gene for TFII-I contributes to the cognitive impairments observed in WS.

Animals↗
PubMed2005

Treatment of acute Sydenham's chorea with methyl-prednisolone pulse-therapy.

Serious adverse effects with antichoreic drugs can occur in patients with acute Sydenham's chorea (SC). The response to conventional treatment in severe SC may also be poor. Thus alternative therapeutic strategies have been developed. We report on four patients with severe acute SC (two with chorea paralytica and two with neuroleptic-induced parkinsonism) treated with i.v. methyl-prednisolone pulse-therapy followed by oral prednisone. The mean+/-SEM clinical rating score dropped from 63.7+/-10.2 to 33.5+/-10.6 in the first month post-treatment but in a lesser degree thereafter. Only one patient developed weight gain and 'moon facies'. This case series suggests that immune suppression with corticosteroids may be an effective and safe treatment in complicated and severe acute SC.

Acute Disease↗
PubMed2005

A "fair innings" between the sexes: are men being treated inequitably?

In most modern developed communities, women are known to live longer than men. A less known fact is that in many statistics reporting differences in life expectancy between socio-economic classes, on average women in the worst-off social class live as long as men in the best-off social class, if not longer. It is true that women tend to have higher morbidity, or lower health-related quality of life, especially at advanced age, but this female disadvantage does not offset the life expectancy advantage sufficiently to lead to the conclusion that men and women enjoy comparable lifetime health prospects in these communities. Although there is much public and policy discussion about the inequity of health inequalities between the social classes, there is relatively little discussion about such inequalities between the sexes. The paper first discusses the applicability of the fair innings argument to the issue of inequality in health between the sexes. It critically examines six arguments concerning why inequality in health between the sexes may or may not be an inequity. Next, special attention is given to the argument that it is wrong to judge the fairness or unfairness of health inequalities in isolation, but that this judgement should be made only after considering other inequalities relevant to overall human well-being, many of which are believed to work to the disadvantage of women. An analytical framework based on the Gender-related Development Index (a supplementary index to the Human Development Index) is taken as a starting point, to address the issue of health and overall well-being. But this is found wanting, and suggestions are made as to how its conceptual and empirical properties could be improved. Meanwhile we conclude that a prima facie case has been made that the current distribution of health in most countries does not give men a "fair innings", but the broader question about general well-being remains unresolved.

Attitude to Health↗
PubMed2005

Reliability of self-reported smoking history and age at initial tobacco use.

BACKGROUND: Many studies use questionnaires to determine smoking status and age of smoking onset. This study aimed to determine the reliability of self-reported smoking history and age of smoking initiation. METHOD: The proportion of inconsistent answers and correlation coefficients of reported age of initial smoking were measured by an answer-reanswer analysis of questionnaires in an ongoing, two-step, population-based survey of health behavior. Interviews were conducted on the day of recruitment to and the day of discharge from mandatory military service in Israel among a sample of 25,437 young men and women recruited between 1986 and 2000. RESULTS: Of 7276 participants reporting current or past smoking upon recruitment, 559 (7.7%) reported never having smoked upon discharge, thus demonstrating prima facie inconsistency. Variables significantly associated with reliable reporting in a multivariate logistic regression model were female gender (P = 0.04) and more than 4 years of military service (P < 0.01). 6010 subjects who reported a positive smoking history at both recruitment and discharge were available for analysis of reliability of reported age at smoking onset. Intraclass correlation coefficients for recruitment/discharge consistency in reported age at first cigarette were 0.73 (95% CI: 0.71-0.74) and 0.76 (95% CI: 0.74-0.78) for men and women, respectively. Eastern origin, lower subject education level, and lower paternal education level were also associated with lower reliability. CONCLUSIONS: Our results showed a relatively high level of answer-reanswer reliability, with some variance attributable to personal characteristics. These results suggest that self-reported age at onset of tobacco use is practical and reliable in normative, young adult populations. However, time elapsed between questionnaires and demographic and lifestyle characteristics may affect reliability rates, and thus should be carefully regarded in future studies.

Adolescent↗
PubMed2003

Using traffic conviction correlates to identify high accident-risk drivers.

One of the primary missions of the California Department of Motor Vehicles is to protect the public from drivers who represent unacceptably high accident risks. Optimum fulfillment of this objective requires the development and implementation of strategies for identifying high-risk drivers. One such system in California is the department's negligent operator point system. This system assigns points to moving violations and accidents and authorizes the department to take driver control actions against drivers who meet the prima facie definition of a negligent operator. The present study explored the viability of predicting accidents from equations constructed to predict convictions for the general driving population. Equations or models that better identify drivers at increased risk of future accident involvement would increase the number of accidents prevented through post license control actions. Although the results did not support prior findings that equations keyed to citations do as well as or better than equations keyed to accidents in predicting subsequent accident involvement, a canonical correlation approach considering subsequent accident and citation rates simultaneously produced a 14.9% improvement in the classification accuracy or "hit rate" for identifying accident-involved drivers.

Accidents, Traffic↗
PubMed2006

[Open rhinolalia, a typical symptom of velo-cardio-facial syndrome].

The Velocardiofacial (VCF) syndrome is a relatively frequent cromosomopathy that usually associates various otorhinolaryngological features, as hipenasal speech, typical facies and auricular anomalies. We report a patient with VCF syndrome that before being diagnosed had undergone adenoidectomy with a postoperative worsening in speech. Otorhinolaryngological clinical features of the VCF syndrome are discussed and a diagnostic protocol is proposed to achieve an early diagnosis and to prevent iatrogenic interventions in these patients.

Child↗
PubMed1995

Strabismus in Williams syndrome.

PURPOSE: Williams syndrome is a rare genetic disorder, consisting of mental retardation, supravalvular aortic stenosis, elfin facies, and specific ocular findings, including strabismus. We undertook this study to evaluate the characteristics of the strabismus in Williams syndrome. METHODS: We examined 32 patients with Williams syndrome to determine the prevalence and define the features of the strabismus in this patient population. RESULTS: Twenty-five of the 32 patients (78%) had strabismus, esotropia being the predominant form in 23 of the 25 patients. Of the 19 patients with Williams syndrome who had infantile esotropia, seven had dissociated vertical deviation, ten had oblique dysfunction, and six had amblyopia. CONCLUSIONS: When the patients with Williams syndrome were compared to the general population, no statistically significant difference was found in the clinical characteristics of infantile esotropia between the two groups. Because of the high prevalence of esotropia in patients with Williams syndrome (72%) compared to the general population (0.1%), we postulate a genetic link between Williams syndrome and the hereditary form of infantile esotropia.

Abnormalities, Multiple↗
PubMedDate not supplied

Familial interstitial deletion of chromosome 4 (p15.2p16.1).

Interstitial deletion of the proximal short arm of chromosome 4, extending from p14 to p16.1 region, results in a distinct clinical syndrome. This proximal 4p deletion syndrome is characterized by variable degrees of mental retardation, unusual facies and minor dysmorphic features. Majority of the patients also show a tall, ectomorphic habitus and normal to excessive linear growth with age. While there have been several cases of such interstitial del(4p) cases reported, familial transmission of this condition has not been documented in the literature. This is the first report of a familial transmission of proximal del(4p) from a mother to her daughter, with both patients showing similar features. This report of the familial transmission of del(4p) has wider implications in genetic counseling.

Abnormalities, Multiple↗
PubMed1997

An isotopic biogeochemical study of Neoproterozoic and Early Cambrian sediments from the Centralian Superbasin, Australia.

Organic matter from Neoproterozoic and Early Cambrian sediments of the Amadeus and Officer basins of the Centralian Superbasin, Australia, has been studied for biomarker distributions and the carbon isotopic compositions of kerogen and individual hydrocarbons. These sediments represent both shallow and deep water marine facies in the older sections and marine and saline lacustrine carbonate deposits in the Cambrian. Hydrocarbon biomarker patterns were found to be quite consistent with the known sedimentary environments and provide valuable insights into the biogeochemical changes which accompanied the transition from a microbially-dominated ocean to the early stages of metazoan radiation. In particular, carbon isotopic data for n-alkyl and isoprenoid lipids presented here, and in earlier studies, showed a reversal in carbon isotopic ordering between the Proterozoic and Phanerozoic. By comparison with the delta 13C of kerogen, n-alkyl lipids from deep-water Proterozoic sediments were enriched in 13C and appear to be derived mainly from heterotrophs whilst open marine Phanerozoic counterparts are 13C depleted and evidently derived mainly from autotrophs. Data from the samples studied here are consistent with a model invoking a change in the redox structure of the ocean, possibly aided by the innovation of faecal pellets.

Alkanes↗
PubMed1982

The supernormal phase of intraventricular conduction: normalization of intraventricular conduction of premature atrial beats.

This report presents the analysis of a case in which numerous atrial extrasystoles, associated with normal intraventricular conduction, occurred during sinus rhythm conducted with right bundle branch block. The wide overlap of coupling intervals of normally conducted extrasystoles and other extrasystoles with right bundle branch block seemed prima facie to negate the possibility of supernormality. Rearrangement of these intervals, however, to allow for the timing of right bundle branch depolarization with respect to the ensuing QRS complex, resulted in a clear cut separation of all normalized complexes from those with right bundle branch block. All normalized extrasystoles were localized in a zone very early in the cycle. This finding, in the presence of atrial extrasystoles with normal P-R intervals, strongly supports the mechanism of supernormality in this case. Alternate explanations do not appear to be tenable.

Aged↗
PubMed1975

Aspartylglucosaminuria: psychomotor retardation masquerading as a mucopolysaccharidosis.

A 5-year-old girl with coarse facies, visceromegaly, and vacuolated lymphocytes is presented as the first case of aspartylglucosaminuria diagnosed in this country. This metabolic defect in glycoprotein catabolism can be clinically confused with other storage diseases such as the mucopolysaccharidoses and mucolipidoses. It is not diagnosed by routine laboratory screening methods. Special studies are required to confirm the diagnosis, but a thin-layer chromatography method for screening urine is presented for use when the diagnosis is suspected. The developmental potential in this inborn error of metabolism is documented.

Amidohydrolases↗
PubMed1975

The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome.

Eight patients in three families had mental retardation, characteristic facies and hands, and skeletal changes; the clinical features suggested to us that they had a syndrome previously thought to represent two entities described by Lowry and associates and by Coffin and associates, respectively. New findings include skeletal, orodental, and dermatoglyphic abnormalities and histopathologic changes suggesting that the syndrome is a heritable disorder of connective tissue. Severe expression in males and transmission through mildly affected females suggest X-linked or sex-influenced autosomal dominant inheritance.

Adolescent↗
PubMed1975

The syndrome of multiple aucosal neuromas and medullary thyroid carcinoma in childhood. Importance of recognition of the phenotype for the early detection of malignancy.

Recognition of the syndrome of OF MMN can identify individuals at risk for the early appearance of MTC. Three such patients are described. Each had the characteristic neuromas and facies, present since infancy. In each, MTC was found in childhood. In the last two patients, the diagnosis was made because of elevated serum CT concentrations. Venous drainage from the tumor, as well as tumor tissue itself, contained high levels of CT. Prompt recognition of persons with MMN is essential for proper investigation and treatment of the associated MTC.

Adolescent↗
PubMed1976

Risks to the offspring of women treated with hydantoin anticonvulsants, with emphasis on the fetal hydantoin syndrome.

The fetal hydantoin syndrome is a variable pattern of altered growth and performance which includes unusual facies, distal phalangeal hyoplasia, and other defects occurring in some infants exposed in utero to hydantoins. A prospective study of 35 infants exposed prenatally to this class of anticonvulsants showed that 11% had sufficient features to be classified as having the fetal hydantoin syndrome. An additional 31% displayed some features compatible with the prenatal effects of hydantoins. A case-control study of 104 infants whose mothers received hydantoins during pregnancy supports these conclusions. Reduction of intellectual ability in infants with the fetal hydantoin syndrome is the area of greatest concern. Women being treated with hydantoin anticonvulsants should be told of the nature and magnitude of risks to the developing fetus before considering a pregnancy.

Abnormalities, Drug-Induced↗
PubMed1976

The Hajdu-Cheney syndrome. Report of two cases and review of the literature.

The Hajdu-Cheney syndrome includes short stature, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones. Two patients with this syndrome are presented. In the first patient the most distinctive skeletal feature, acro-osteolysis, was shown to be absent at age 6 years but was present at age 11 years. Diagnosis was made in the second case in the absence of acroosteolysis because of otherwise typical findings. Abnormalities affecting vision, hearing, and dentition occur and these, along with the other characteristic physical and radiographic features of the syndrome, should enable diagnosis prior to the onset of acro-osteolysis.

Abnormalities, Multiple↗
PubMed1977

Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations.

A family is described in which 15 persons in five generations are affected with a complex of skeletal malformations which variably includes peculiar asymmetric facies, delayed closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad great toes, and mild shortness of stature. Although craniosynostosis is either lacking or relatively mild in the members of this family, their features are otherwise strikingly similar to those of patients with the Saethre-Chotzen syndrome. We believe the findings in this family indicate that the Saethre-Chotzen syndrome comprises a broad pattern of carniofacial and other skeletal malformations in which craniosynostosis may sometimes occur.

Acrocephalosyndactylia↗