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Biomedical subjects

B Eng

Publications and source records attributed to B Eng.

At least 19 recordsLinked to original sources
PubMed2000

PCR-based diagnosis of the Filipino (--(FIL)) and Thai (--(THAI)) alpha-thalassemia-1 deletions.

In southeast Asia, the carrier frequency of two-gene alpha-thalassemia deletions is quite high, ranging from 4% to 14% depending on the population. The most common alpha-thalassemia-1 deletion is the so-called southeast Asian deletion (--(SEA)). In addition, a significant proportion of cases involve two other deletions, the Filipino (--(FIL)) and Thai (--(THAI)) deletions. In this report, we identify the deletion breakpoints for the (--(FIL)) and (--(THAI)) deletions, and describe PCR-based protocols for rapid and reliable DNA diagnosis of these deletions.

Asia, Southeastern↗
PubMed1999

A combined residency in family medicine and internal medicine at Eastern Virginia Medical School.

This paper describes the first operational four-year combined family medicine/internal medicine residency designed to qualify residents for board examination in both disciplines, which began at Eastern Virginia Medical School in 1995. The authors describe key program features, including their block rotation schedule, interdisciplinary ambulatory precepting, and plans for achieving 50% ambulatory training experience, as well as their difficulties in implementing a collaborative core didactic experience. The authors present faculty survey data indicating that internal medicine faculty members are more likely to view the combined residency as a resource, while family medicine faculty members would like to concentrate on the categorical residency. A recent survey of combined residents indicates that they are satisfied with their choice of combined training and optimistic about the opportunity of garnering additional skills relative to their internal medicine and family medicine counterparts. The authors suggest that successfully implementing this interdisciplinary effort requires an atmosphere of mutual respect and an effort to find opportunities to positively affect the training experiences of both combined residents and their resident partners in family medicine and internal medicine.

Curriculum↗
PubMed1998

Technical note: improved DNA extraction from ancient bones using silica-based spin columns.

We describe a simple method for extracting polymerase chain reaction-amplifiable DNA from ancient bones without the use of organic solvents. Bone powders are digested with proteinase K, and the DNA is purified directly using silica-based spin columns (QIAquick3, QIAGEN). The efficiency of this protocol is demonstrated using human bone samples ranging in age from 15 to 5,000 years old.

Animals↗
PubMed1997

De novo mutation of the beta-globin gene initiation codon (ATG-->AAG) in a Northern European boy.

We present a case of beta-thalassemia intermedia involving a 13-year-old boy of Northern European descent. His mother, father and older sister have normal hematologic indices. Molecular studies demonstrate that the proband carries a novel mutation of the beta-globin gene initiation codon (ATG-->AAG) which should give rise to beta(0)-thalassemia trait. The possibility of non-paternity was excluded, indicating that the novel mutation was the result of a de novo event. A review of the literature indicates that mutations involving the beta-globin gene initiation codon can give rise to a more severe phenotype than is generally associated with most other beta(+) or beta(0) mutations.

Adolescent↗
PubMed1996

Canuck place: a hospice for dying children.

Parents will never face a more stressful event than the news that their child will die. A child's terminal illness challenges every belief, emotion and dream that a parent has. In addition to the emotional drain, caring for a dying child is physically exhausting. Moreover, the child's illness affects the lives of all brothers, sisters, aunts, uncles and grandparents. The care of these children and their families demands a holistic program of services, including physical and emotional support, as well as tangible ways to relieve parents from the continuous 24-hour care of their child. And after the child has died, the emotional support must continue as families learn to face life without their child.

Child↗
PubMed1996

Alteration of glomerular permeability to macromolecules induced by cross-linking of beta 1 integrin receptors.

Altered glomerular epithelial cell attachment to the glomerular basement membrane is an important pathogenetic factor in increased glomerular permeability to proteins. We have previously presented evidence that antibodies reactive with integrin matrix receptors on glomerular epithelial cells inhibit adhesion of these cells and may be involved in the production of proteinuria in vivo. Therefore, we utilized intact glomeruli in an in vitro system to directly assess the effect of anti-beta 1-integrin antibody on glomerular permeability. Permeability to albumin (Palb) was calculated from the volume response of glomeruli to a transcapillary oncotic gradient. Anti-beta 1-integrin increased Palb in a dose- and time-dependent manner. Palb was increased to 0.70 +/- 0.05 whereas normal rabbit IgG had no effect (0.10 +/- 0.04). F(ab')2 fragments of antibody increased Palb to a similar degree whereas Fab fragments had no effect (0.10 +/- 0.06). Cross-linking of Fab fragments, however, with a second antibody restored their ability to increase Palb (0.60 +/- 0.09), demonstrating the importance of integrin cross-linking in producing the observed effect. Intact, F(ab')2 and Fab fragments of anti-beta 1 antibody all inhibited adhesion of glomerular epithelial cells to fibronectin, laminin, and types I and IV collagen, although the degree of inhibition by Fab fragments was significantly less on collagens. No cytotoxic effects were observed with anti-beta 1 antibody or its fragments. These results suggest that antibodies to integrin matrix receptors on glomerular cells alter cell interactions with the glomerular basement membrane and lead to increased glomerular permeability to proteins via a process that is initiated by integrin cross-linking rather than through simple interference with cell adhesion per se.

Albumins↗
PubMed1995

Severity of beta-thalassemia due to genotypes involving the IVS-I-6 (T-->C) mutation.

Among individuals of Mediterranean or Middle Eastern descent, the IVS-I-6 (T-->C) mutation is one of the most common causes of beta-thalassemia. In this report, we describe the clinical phenotypes of a group of beta-thalassemia patients who are compound heterozygotes for the relatively mild IVS-I-6 (T-->C) beta-thalassemia mutation and more severe beta(+)- or beta (0)-thalassemia mutations. Although most of these patients are transfusion-dependent, the requirement for regular transfusions generally occurred late in childhood. A correlation between concomitant alpha-thalassemia and a mild transfusion-independent phenotype is not apparent, indicating the involvement of other ameliorating determinants.

Adult↗
PubMed1995

Implementation of the CNS role in Vancouver, British Columbia, Canada.

The CNS as an advanced practitioner contributes significantly to the provision of comprehensive patient care services. Development and implementation of the CNS role are complex processes. This study was designed to describe the experience of practicing CNSs in various health care agencies in the Lower Mainland (the geographic region of British Columbia, Canada, comprising Vancouver and adjacent communities). Major themes emphasize the complex interplay of role ambiguity, organizational structure, and administrative support in facilitating and/or impeding the CNS role implementation process.

British Columbia↗
PubMed1995

Identification of a new high oxygen affinity hemoglobin variant: Hb Aurora [beta 139(H17) Asn-->Tyr].

A 73-year-old female of Dutch descent was referred for investigation of a high oxygen affinity hemoglobin variant. The beta-globin gene was amplified using the polymerase chain reaction. Direct nucleotide sequencing of the polymerase chain reaction amplified DNA revealed that she is heterozygous for a novel beta-globin gene mutation at codon 139, AAT-->TAT. The resulting hemoglobin variant has been designated Hb Aurora [beta 139 (H17) Asn-->Tyr].

Aged↗