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Biomedical subjects

H M Hoffman

Publications and source records attributed to H M Hoffman.

16 recordsLinked to original sources
PubMed2001

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

Familial cold autoinflammatory syndrome (FCAS, MIM 120100), commonly known as familial cold urticaria (FCU), is an autosomal-dominant systemic inflammatory disease characterized by intermittent episodes of rash, arthralgia, fever and conjunctivitis after generalized exposure to cold. FCAS was previously mapped to a 10-cM region on chromosome 1q44 (refs. 5,6). Muckle-Wells syndrome (MWS; MIM 191900), which also maps to chromosome 1q44, is an autosomal-dominant periodic fever syndrome with a similar phenotype except that symptoms are not precipitated by cold exposure and that sensorineural hearing loss is frequently also present. To identify the genes for FCAS and MWS, we screened exons in the 1q44 region for mutations by direct sequencing of genomic DNA from affected individuals and controls. This resulted in the identification of four distinct mutations in a gene that segregated with the disorder in three families with FCAS and one family with MWS. This gene, called CIAS1, is expressed in peripheral blood leukocytes and encodes a protein with a pyrin domain, a nucleotide-binding site (NBS, NACHT subfamily) domain and a leucine-rich repeat (LRR) motif region, suggesting a role in the regulation of inflammation and apoptosis.

Amino Acid Motifs↗
PubMed2001

Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever.

BACKGROUND: Familial cold autoinflammatory syndrome (FCAS), commonly known as familial cold urticaria, is a rare autosomal dominant inflammatory disorder with episodic symptoms precipitated by exposure to cold. OBJECTIVE: The goal of this study was to formulate clinical diagnostic criteria for FCAS in a large cohort in whom the diagnosis of FCAS was supported by genetic linkage to chromosome 1q44. METHODS: We assessed 45 affected and 68 unaffected members from 6 American families. DNA analysis was performed to confirm linkage to chromosome 1q44. Clinical characteristics were determined by means of analysis of detailed questionnaires and medical histories. RESULTS: Pedigree and genetic analyses confirmed autosomal dominant transmission and linkage to chromosome 1q44 in all families. The most consistent symptoms during attacks were rash (100%), fever (93%), arthralgia (96%), and conjunctivitis (84%). Age of onset was within the first 6 months of life in 95% of affected subjects. The average delay between cold exposure and onset of symptoms was 2.5 hours, and the average duration of an episode was 12 hours. Renal disease with amyloidosis occurs infrequently in FCAS (2%). CONCLUSION: The most consistent clinical characteristics of FCAS that discriminate it from other periodic fevers are association with cold exposure, conjunctivitis, age of onset, duration of episodes, and an autosomal dominant inheritance pattern. On the basis of the analysis of genotype and phenotype of FCAS, we formulated clinical diagnostic criteria that can be used to distinguish FCAS from other hereditary periodic fever syndromes.

Adolescent↗
PubMed2001

Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.

We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include microcephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterior anus, and hypoplastic labia minora. Radiographic findings include triphalangeal thumbs and hypoplastic first metatarsals. She has postnatal growth retardation and her development is substantially slower than her twin's. Her clinical course has been complicated by recurrent sinopulmonary infections and pneumococcal bacteraemia. Laboratory evaluation revealed hypogammaglobulinaemia, absent B cells, and a 46,XX karyotype. A review of the literature and the London Dysmorphology Database did not produce any recognizable syndromes that match her constellation of findings. She may represent a unique syndrome of unknown etiology.

Abnormalities, Multiple↗
PubMed2001

Development of an experimental paradigm in which to examine human learning using two computer-based formats.

Computer-based self-instructional programs are frequently promoted as means to augment or replace the traditional anatomy curricula taught in medical schools. These programs may range from static slide shows to fully immersive virtual environments. However, the impact of these learning technologies on knowledge acquisition, and their comparative cost/benefit to education remain unclear. As a consequence, we are embarking on a series of experiments to compare knowledge acquisition and the meaningful use of information among students who are learning anatomy using one of two different computer-based self-instructional formats. These studies will be based on a specially developed learning module on basic lung anatomy; they will utilize a variety of assessment tools to measure factual knowledge, conceptual understanding of spatial-anatomic relationships, and the ability to apply newly acquired knowledge of anatomy to clinical problem-solving scenarios. The primary object of this paper is to describe the design and development of the underlying test module and to outline the two computer-based formats that will be evaluated. The virtual reality (VR) environment, UCSD's Anatomic VisualizeR, provides dynamic access to 3-dimensional polygonal models of the lesson content and supports student-centered exploration and learning. The multimedia environment, Microsoft PowerPoint, provides a structured presentation of the lesson content and illustrates important anatomic structures through the use of 2-dimensional images derived by screen captures of models available in the VR learning module. This paper also provides an overview of the first experiment in the series, a pilot study using first-year medical students without previous participation in a medical school anatomy curriculum. For this study, students will be prospectively randomized into two groups, each group learning the lung anatomy lesson using one of the computer-based formats described. Immediate knowledge retention will be measured by asking students to complete the assessment instrument immediately after completing their learning module. The results of the pilot study will be used to refine and improve the design of the remainder of studies planned in this experimental series.

Anatomy↗
PubMed2000

Identification of a locus on chromosome 1q44 for familial cold urticaria.

Familial cold urticaria (FCU) is a rare autosomal dominant inflammatory disorder characterized by intermittent episodes of rash with fever, arthralgias, conjunctivitis, and leukocytosis. These symptoms develop after generalized exposure to cold. Some individuals with FCU also develop late-onset reactive renal amyloidosis, which is consistent with Muckle-Wells syndrome. By analyzing individuals with FCU from five families, we identified linkage to chromosome 1q44. Two-point linkage analysis revealed a maximum LOD score (Zmax) of 8.13 (recombination fraction 0) for marker D1S2836; multipoint linkage analysis identified a Zmax of 10. 92 in the same region; and haplotype analysis defined a 10.5-cM region between markers D1S423 and D1S2682. Muckle-Wells syndrome was recently linked to chromosome 1q44, which suggests that the two disorders may be linked to the same locus.

Adolescent↗
PubMed1997

Mast cell adenosine induced calcium mobilization via Gi3 and Gq proteins.

Adenosine is an important mediator of mast cell secretory responses. Adenosine appears to act through one or more adenosine receptor subtypes to activate several signal transduction pathways; however, the specific mechanisms involved are not clearly defined. We studied the pathways involved in adenosine receptor-mediated calcium fluxes in RBL-2H3 cells, a mucosal mast cell-like line. The role of endogenous heterotrimeric G proteins in adenosine mediated calcium mobilization was investigated by microinjection of inhibitory antibodies that block specific G protein subtype function. The calcium transients associated with adenosine and antigen stimulation were compared in noninjected cells and cells that were microinjected with affinity purified neutralizing antibodies to the alpha subunits of Gi3, Gq, or Gs. The percentage of cells responding to adenosine was decreased in the presence of antibodies to Gi3 and Gq, but not Gs. Pertussis toxin decreased the percentage of cells responding to adenosine, but not antigen. These studies demonstrated a functional requirement for the pertussis toxin sensitive Gi3 protein and the pertussis toxin insensitive Gq protein in adenosine mediated calcium mobilization in mast cells.

Adenosine↗
PubMed1996

Developing a virtual reality-multimedia system for anatomy training.

The University of California, San Diego, School of Medicine's Learning Resources Center is developing a prototype next-generation application for anatomy education which combines virtual reality and multimedia curricular resources. The anatomy lesson utilizes polygon-based 3-D models of the hepatobiliary system created by BioGraphics Inc. of Fort Collins, Colorado which were derived from the National Library of Medicine's Visible Human Project Dataset. This article describes the needs assessment, learning objectives, and preliminary design of the current prototype. The multivariate design, the development strategy for implementing functionalities, and the engineering of critical software interface components are also outlined.

Anatomy↗
PubMed1995

IMED: the development of a consortium.

The California Consortium for Informatics in Medical Education and Development began in 1990 upon the recommendation of the academic deans of eight California medical schools. It provides one model of how consortia can promote the development, evaluation, dissemination, and utilization of technology-based medical education.

California↗
PubMed1993

UCSD's MedPics: implementation and impact on the curriculum.

MedPics is a computer-based image delivery system with supporting text fields and on-screen graphics to assist in key feature identification. It has been used by the University of California, San Diego as an integral part of the Human Disease course since 1992. Initially created to support pathology and histology, the program has now expanded to include hematology. MedPics has had a positive impact on the second year curriculum for which it was created. Moreover, use of this program has improved student attitudes toward computer-based resources and increased faculty interest in instructional development.

California↗
PubMed1992

Antibiotic-impregnated cement use in U.S. hospitals.

The results of a survey of the use of antibiotic-impregnated bone cement and cement beads in U.S. hospitals are reported. A random sample of hospitals was selected from all hospitals registered with the American Hospital Association. A questionnaire designed to characterize the extent of use of the products and the degree of pharmacy involvement was mailed to the pharmacy directors at 547 hospitals nationwide. The response rate was 61.7% (336 evaluable returns). Ninety hospitals (26.9%) reported using antibiotic-impregnated bone cement or cement beads. Product use was significantly greater in urban hospitals, hospitals larger than 200 beds, teaching hospitals, and hospitals with pharmaceutical services in the operating rooms. Most facilities using the products were community hospitals. Total hip arthroplasty, total knee arthroplasty, and chronic osteomyelitis were the most common indications for use. Systemic antibiotics were also administered in the great majority of hospitals reporting use of the products. The products were generally used in fewer than one procedure per month. Aminoglycosides and various cephalosporins were the antibiotics most commonly used; most have not been adequately studied for this use. Although nearly all the hospital pharmacies purchased antibiotics for these products, none mixed cement and only two premanufactured antibiotic beads. About one fourth of the hospitals surveyed reported using antibiotic-impregnated bone cement and cement beads, although the total number of patients being treated was small.

Anti-Bacterial Agents↗
PubMed1992

PathPics: an image-based instructional program used in the pathology and histology curriculum and transmitted over a wide area network.

PathPics is an image review and tutorial program developed at the University of California, San Diego (UCSD) School of Medicine as an adjunct to the preclinical Pathology and Histology curriculum. It incorporates faculty expertise and provides a framework for self-paced study of this visually-oriented material. The program is served over our wide area network and runs on color-capable Macintosh computers. PathPics was added to the curriculum in January, 1992, and has been enthusiastically received by the students.

Computer Graphics↗
PubMed1985

A cost-benefit analysis of preparticipation sports examinations of adolescent athletes.

A cost-benefit analysis of preparticipation sports exams of 763 adolescents was based on data from parallel programs conducted on affluent white and indigent black populations. After initial exams, 16 athletes (2.1%) were referred for further evaluation before participation was allowed; 15 of 16 reported their problems on the history form. Two were disqualified and one was treated. The cost of identifying the three athletes with significant problems was $4,537 per athlete. An additional 163 athletes (21.6%) had significant medical problems unrelated to safe sports participation and 89% of students sought routine health care only to obtain permission to play sports. Preparticipation sports exams have an unfavorable cost-benefit ratio even if costs are carefully controlled. The ratio might be improved if significant health problems not relevant to safe sports participation are sought or if exams are limited to athletes with positive responses on a preliminary history form.

Adolescent↗
PubMedDate not supplied

Cultural safety and renal care.

The Maori are the indigenous people of New Zealand. They and other Polynesian peoples who have migrated here in more recent times are over represented in our health statistics in ways that are of concern to New Zealand health care providers. Maori and Polynesian have higher rates of infant mortality, lung cancer, mental illness and, pertinent to this discussion, higher rates of diabetes and End Stage Renal Failure. Some of the issues raised by these statistics are the subject of my presentation today.

Health Promotion↗