PubMed Health⌕ Search

Biomedical subjects

A Mandel

Publications and source records attributed to A Mandel.

18 recordsLinked to original sources
PubMed2001

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Williams-Beuren syndrome (WBS) is most often caused by hemizygous deletion of a 1.5-Mb interval encompassing at least 17 genes at 7q11.23 (refs. 1,2). As with many other haploinsufficiency diseases, the mechanism underlying the WBS deletion is thought to be unequal meiotic recombination, probably mediated by the highly homologous DNA that flanks the commonly deleted region. Here, we report the use of interphase fluorescence in situ hybridization (FISH) and pulsed-field gel electrophoresis (PFGE) to identify a genomic polymorphism in families with WBS, consisting of an inversion of the WBS region. We have observed that the inversion is hemizygous in 3 of 11 (27%) atypical affected individuals who show a subset of the WBS phenotypic spectrum but do not carry the typical WBS microdeletion. Two of these individuals also have a parent who carries the inversion. In addition, in 4 of 12 (33%) families with a proband carrying the WBS deletion, we observed the inversion exclusively in the parent transmitting the disease-related chromosome. These results suggest the presence of a newly identified genomic variant within the population that may be associated with the disease. It may result in predisposition to primarily WBS-causing microdeletions, but may also cause translocations and inversions.

Adolescent↗
PubMed2000

A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome.

Diamond-Blackfan anaemia (DBA) is a constitutional red blood cell hypoplasia which may be associated with a variety of developmental abnormalities. A gene for DBA was recently mapped to chromosome 19q13.2 and subsequently cloned. Analysis of 19q marker alleles in DNA of sporadic DBA cases showed de novo microdeletions in three patients also presenting with mental retardation. We have studied one of these patients and characterised the deletion by fluorescence in situ hybridisation (FISH) to extended DNA fibres. The deletion was shown to be continuous over a 3.2 Mb region and the fibre-FISH analysis showed both chromosomal breakpoints. In combination, the clinical and molecular findings suggest a contiguous gene syndrome with a gene locus for mental retardation and, probably, skeletal malformations included in the deletion.

Bone and Bones↗
PubMed1992

Decreased platelet imipramine binding in Tourette syndrome children with obsessive-compulsive disorder.

[3H]Imipramine binding to blood platelets was assessed in eight untreated Tourette syndrome (TS) children, nine drug-free TS children with obsessive-compulsive disorder (OCD), and nine age-matched and gender-matched control subjects. The density of [3H]imipramine binding sites in TS + OCD patients was significantly lower compared with TS-OCD patients (28%) as well as when compared with controls (31%). This alteration was not accompanied by differences in the affinity of the binding site to the ligand. The decreased density of the platelet serotonin "transporter" might implicate the involvement of the serotonergic system in the pathophysiology of OCD in TS patients, but not in TS per se.

Adolescent↗
PubMed1976

Bacterial flora in psoriasis.

The aerobic bacterial flora of psoriatic plaques, uninvolved skin and the anterior nares of forty psoriatic patients was studied. The incidence od Staphylococcus aureus was 30% in the anterior nares, 20% on the plaques and 13% on the uninvolved skin. S. aureus counts were 3 x 10(2)/cm2 on the plaques and 1-5 x 10/cm2 on the normal skin. The total bacterial counts were also higher on plaques (7-9 x 10(3)/cm2) than on normal skin (3-0 x 10(3)/cm2). The incidence of lipophilic diphtheroids was significantly lower on the plaques (4%) than the normal skin (30%). Eighty percent of the strains of S. aureus isolated from psoriatic patients were resistant to 10 units of penicillin. Because of increased desquamation, psoriatic skin is a public health hazard.

Drug Resistance, Microbial↗
PubMed1975

Niridazole. II. A potent long-acting suppressant of cellular hypersensitivity.

Niridazole, a human anthelminthic drug, is shown to be a potent long-acting suppressor of delayed hypersensitivity. Much lower doses than used in the therapy of helminth infections suppressed granuloma formation around Schistosoma mansoni eggs for periods up to 32 days and inhibited delayed footpad swelling in mice previously sensitized with eggs. Marked prolongation of skin allograft survival in mice accross the H-2 area was produced. The drug is administered orally, has been used clinically on a massive scale, and appears to be relatively free of the cytotoxic effects of most immunosuppressive agents.

Animals↗
PubMed1971

Of lice and men.

Explore the source record for details and available documents.

Clothing↗
PubMedDate not supplied

A new clinical scoring system fails to differentiate hemorrhagic from ischemic stroke when used in the acute care setting.

Recently, a new diagnostic scoring system has been proposed to help differentiate intracranial hemorrhage (ICH) from ischemic infarct. The system, derived using data from hospitalized stroke patients, is based on eight variables readily available to all clinicians. A diagnostic score <1.0 is reportedly 100% predictive of ischemic infarct. The clinical scoring system is asserted to be a useful adjunct in the initial evaluation of patients with acute stroke syndrome. The purpose of this study was to prospectively evaluate this clinical scoring system in our emergency department (ED). Sixty-one ED patients with focal neurologic deficit undergoing cranial computed tomography (CT) scan to rule out ICH were entered in the study. Thirteen [21% (95% CI, 12-34%)] were found to have an ICH. Twenty-two [36% (95% CI, 24-49%)] had a diagnostic score < 1.0. The CT scans on 4 of these 22 patients showed ICH. The positive predictive value for ischemic infarct for these 22 patients using the diagnostic scoring system was 82% (95% CI, 60-95%). Our results suggest that this new clinical scoring system is of no value in helping to differentiate ICH from ischemic stroke in the acute care setting.

Adult↗