Biomedical subjects

M E McDonald

Publications and source records attributed to M E McDonald.

7 recordsLinked to original sources

PubMed1991

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.

Wolf-Hirschhorn syndrome is a clinically recognizable, multiple congenital anomaly syndrome usually associated with terminal deletion of the short arm of chromosome 4. A girl with clinical features of Wolf-Hirschhorn syndrome did not show an obvious deletion of chromosome 4, and a molecular defect was suspected. RFLPs of genomic DNA from the proband and her parents were studied using DNA probes from the distal region of chromosome 4p. Fluorescence in situ hybridization using a cosmid p847.351 containing the fragment 847 E-C was performed to investigate the possibility of a subtle translocation. Cytogenetic analyses done on the child and on both parents did not conclusively reveal abnormalities of chromosome 4. Molecular studies using two probes mapped to distal 4p showed the absence of the maternal haplotype in the child. These findings are thus consistent with a molecular deletion of 4p and confirm the diagnosis of Wolf-Hirschhorn syndrome. Cytogenetic experiments involving fluorescence in situ hybridization showed that the mother carried a subtle translocation between chromosomes 4 and 19, 46,XX,t(4,19)(p16.3; p13.3), which resulted in an unbalanced form in the child. Chorionic villus sampling for prenatal diagnosis in a subsequent pregnancy showed the fetus to be unaffected. This provides the first evidence, in chromosome 4p, of a molecular deletion due to a subtle, inherited translocation leading to the Wolf-Hirschhorn phenotype. Such subtle translocations may become an important mechanism for some recurrent genetic defects.

Adult↗

PubMed1989

The gene for enhancer binding proteins E12/E47 lies at the t(1;19) breakpoint in acute leukemias.

The gene (E2A) that codes for proteins with the properties of immunoglobulin enhancer binding factors E12/E47 was mapped to chromosome region 19p13.2-p13.3, a site associated with nonrandom translocations in acute lymphoblastic leukemias. The majority of t(1;19)(q23;p13)-carrying leukemias and cell lines studied contained rearrangements of E2A as determined by DNA blot analyses. The rearrangements altered the E2A transcriptional unit, resulting in the synthesis of a transcript larger than the normal-sized E2A mRNAs in one of the cell lines with this translocation. These observations indicate that the gene for a transcription factor is located at the breakpoint of a consistently recurring chromosomal translocation in many acute leukemias and suggest a direct role for alteration of such factors in the pathogenesis of some malignancies.

Child↗

PubMed1979

Learning style preferences: physical therapy students in the United States.

The purpose of this study was to describe the learning style preferences of students enrolled in their first year of basic professional programs in physical therapy in the United States in the academic year 1975 to 1976. The testing instrument used was the Learning Styles inventory developed by Canfield and Lafferty. A sample of 1,099 (40.8% of the total population) was collected. The results have been tabulated using descriptive statistics of means and standard deviations for: 1) total sample, 2) men, and 3) women. The "typical" or "average" physical therapy student is described. These results have important implications for physical therapy educators in terms of arranging their instructional activities to optimize learning.

Adult↗

PubMedDate not supplied

Methodologic trends in the healthcare professions: computer adaptive and computer simulation testing.

Assessing knowledge and performance on computer is rapidly becoming a common phenomenon in testing and measurement. Computer adaptive testing presents an individualized test format in accordance with the examinee's ability level. The efficiency of the testing process enables a more precise estimate of performance, often with fewer items than traditional paper-and-pencil testing methodologies. Computer simulation testing involves performance-based, or authentic, assessment of the examinee's clinical decision-making abilities. The authors discuss the trends in assessing performance through computerized means and the application of these methodologies to community-based nursing practice.

Clinical Competence↗

PubMedDate not supplied

Methodologic trends in the healthcare professions: portfolio assessment.

Earlier article have presented the importance of developing programs of assessment designed to measure knowledge and abilities basic to community-focused healthcare practice. In the field of assessment, considerable attention recently has been given to what has come to be called "alternative assessment" methods. Alternative assessment formats offer the possibility to more accurately assess a range of abilities, such as critical thinking, problem solving, and clinical decision making, that are fundamental to community-based nursing practice. The authors present one such alternative assessment method--portfolio assessment--and discuss its application to the measurement of student performance in a community-focused practice environment.

Clinical Competence↗

PubMedDate not supplied

Epizootic of coccidiosis in free-flying lesser scaup.

A coccidiosis epizootic has occurred in lesser scaup (Aythya affinis) at Bluestem Reservoir in eastern Nebraska during the spring in each of three recent years: 1976-1978. Losses peaked during the period from mid-March through April. As much as 29% of the peak population of scaup using the reservoir died. Necropsies of 72 of the nearly 1390 scaup that died revealed destruction and sloughing of the intestinal mucosa and associated hemorrhaging. Fibrinonecrotic cores were frequently found in the intestinal lumens. Scrapings from the intestinal mucosal contained massive numbers of oocysts of the coccidian Eimeria aythyae. This is the first report of recurrent epizootics of coccidiosis in freeflying waterfowl.

Animals↗

PubMedDate not supplied

Use of the ketogenic diet in treating children with seizures.

Ketogenic diet therapy has been found to be an effective means of treating afebrile seizures that are refractory to antiepileptic medication alone. Controversies exist regarding its use. Potential harmful side effects include Staphylococcus aureus infections, retarded growth, hypoglycemia, hyperlipidemia, urolithiasis, and optic neuropathy. Pediatric nurses with knowledge about ketogenic diet therapy and current research regarding its use, will be better able to determine the appropriateness of this form of therapy for children with seizures that cannot be controlled by medication alone.

Child↗