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Biomedical subjects

D Raymond

Publications and source records attributed to D Raymond.

18 recordsLinked to original sources
PubMed1998

Predicting readmission to hospital with asthma.

OBJECTIVES: To determine whether readmission to hospital for children aged 1-7 years with asthma can be predicted; and to discover whether factors related to the severity of the attack and past pattern of asthma, assessment of the parents' intention to treat the child with inhaled therapy, perceived consequences of treatment, habits of treatment and self-efficacy show a difference between those children subsequently readmitted and those who were not. METHODS: A specifically developed questionnaire was administered to parents of 121 children admitted with asthma. Clinical assessment was made of severity of the acute attack and past pattern of the asthma. One year after admission subjects were reviewed to determine those who had been readmitted. RESULTS: On univariate analysis, the negative perceived consequences of treatment with inhaled therapy were associated with an increased risk of readmission over a one-year period (P = 0.04). After adjusting for confounders (place of birth of mother, two- or one-parent family) and the effect-modifier of past pattern of the asthma (infrequent episodic, frequent episodic, persistent), the greater the negative perceived consequences of treatment, the more likely there would be readmission in children with infrequent episodic asthma. After adjusting for potential confounders, using logistic regression a decrease of one standard deviation in the negative perceived consequences score resulted in a one-third decrease in the odds of readmission (odds ratio (OR) = 0.31, 95% CI 0.12-0.83). CONCLUSIONS: Parents whose children are readmitted see greater negative perceived consequences of treatment. If asthma is infrequent episodic, the negative perceived consequences may be an inhibitor of treatment, whereas for more severe past patterns of asthma the severity is the controller of treatment. If parental negative consequences could be decreased, admissions for asthma may decrease.

Asthma↗
PubMed1997

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.

The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult-onset, and predominantly cranial-cervical, ITD. We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8. An identical haplotype spanning 40-cM segregates with ITD in these families, suggesting a shared mutation from the recent past.

Adolescent↗
PubMed1997

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen idependently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.

ATP-Binding Cassette Transporters↗
PubMed1997

Secondary dystonia and the DYTI gene.

Early-onset (< 28 years) primary dystonia in most Ashkenazi Jews is due to a single founder mutation in the DYT1 gene on chromosome 9q34, as determined by very strong linkage disequilibrium with a haplotype of 9q34 alleles at surrounding marker loci. The role of this mutation in individuals with secondary causes for dystonia has never been tested, although environmental insults, such as neuroleptic exposure or perinatal asphyxia, are proposed to precipitate dystonia in genetically predisposed individuals. We assessed 9q34 haplotypes in 40 Ashkenazi patients with secondary dystonia; 25 had early onset of symptoms, including 15 with exposure to neuroleptic medication or perinatal asphyxia. Of the 25 patients with early onset, 9 were considered phenocopies of DYT1 having normal examinations except for dystonia, normal radiographic and other laboratory studies, and onset in a limb or the neck. Only one individual whose dystonia developed in the setting of a measles infection carried the associated haplotype. Our findings indicate that clinical diagnostic criteria that include historical information to detect tardive dystonia and perinatal asphyxia discriminate primary dystonia due to the DYT1 founder mutation. We found no evidence that the DYT1 founder mutation contributes to secondary dystonia.

Adolescent↗
PubMed1996

Exclusion of the DYT1 locus in familial torticollis.

Clinical-genetic studies of idiopathic torsion dystonia (ITD) indicate that the DYT1 gene on chromosome 9q34 is responsible for most childhood limb-onset disease. The genetic basis of adult-onset ITD is less well studied. In most multiplex adult-onset ITD families, dystonia is limited to the cervical, cranial, or brachial muscles; in a few rare families, dystonia also involves the legs and trunk. Previous linkage studies have excluded the DYT1 locus in these atypical families. We studied two large non-Jewish families with adult-onset ITD limited to the cervical and brachial muscles and excluded the DYT1-containing region. This study further restricts the role of DYT1 to childhood limb-onset ITD and suggests that other genes are responsible for focal adult-onset ITD.

Adolescent↗
PubMed1996

Cognitive and psychodynamic correlates of depressive symptomatology.

31 depressed, 26 nondepressed participants completed measures reflecting putative cognitive and psychodynamic characteristics of self-reported depression. Of the 16 variables 9 discriminated the groups in the expected direction. Ten characteristics correlated significantly with scores on the Beck Depression Inventory, 4 reflecting negative automatic thinking, two of which (Negative Self-concepts and Expectations, Low Self-esteem) were important predictors of severity of depression.

Adult↗
PubMed1993

Improved PCR/NcoI method for the molecular diagnosis of medium chain acyl-CoA dehydrogenase deficiency using dried blood samples: two-stage amplification using two different sets of primers improves accuracy and sensitivity.

A 985A-->G transition is the single prevalent mutation representing 89% of all variant medium-chain acyl-CoA dehydrogenase (MCAD) alleles that causes MCAD deficiency. We and others previously devised a molecular method for the detection of the 985G allele that involves PCR coupled with NcoI digestion. The method has been widely used. However, when used for the analysis of dried blood samples, it sometimes produced ambiguous results with weak target bands in the presence of numerous artifact bands. An improved version of the method has been developed here, involving two stages of amplification using two different sets of primers. In the first stage, the entire exon-11 was amplified. A small aliquot (5 microliters) of the first PCR products were directly used as a template for the second PCR amplification. The second PCR is similar to the original method, but utilizes a pair of primers encompassing a smaller section within exon-11. The upstream primer incorporates a substitution at 981, so that a NcoI site involving 985G is introduced in the copies of the variant allele, as in the original PCR/NcoI method. The improved 2-stage method produces an intense target band with a very high sensitivity, yet devoid of artifacts, providing clean, unequivocal results.

Acyl-CoA Dehydrogenase↗
PubMed1980

Department review: a PSRO approach from the hospital's perspective.

The following article is the first in a two-part series which describes a departmental review system developed by the Area VII Professional Standards Review Organization (PSRO) in Ann Arbor, Michigan. In part one, an overview of the general approach to departmental review is presented. In part two, which will be published in a future issue of the QRB, application of some aspects of the system to a specific department--diagnostic radiology--will be presented. Although developed by the staff of a PSRO, the approach to departmental review described envisions such review as a delegated activity to be conducted on an individual hospital basis.

Goals↗
PubMed1976

[45,X/ 46,XX/ 46,XY Mosaic with female phenotype].

Report on a girl with female phenotype and 45,X/46,XX/46,XY mosaicism. The patient showed primary amenorrhea, low stature (1,47 m), but no other typical features of Turner's syndrome. Chromosome studies were carried out on cultures of blood lymphocytes, with usual methods and with R- G- and Q-banding: 43,3 % of cells were 46,XY ; 36,6 % were 45,X and 20 % were 46,XX. The chromosome Y is a non-fluorescent one. A comparison is made with other published cases.

Amenorrhea↗