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Biomedical subjects

Robert Graham

Publications and source records attributed to Robert Graham.

8 recordsLinked to original sources

ABCA12 is the major harlequin ichthyosis gene.

Harlequin ichthyosis (HI) is the most severe form of autosomal-recessive, congenital ichthyosis. Affected infants have markedly impaired barrier function and are more susceptible to infection. Abnormalities in the localization of epidermal lipids as well as abnormal lamellar granule formation are features of HI skin. Previously, we and others have shown that mutations in the ABCA12 gene encoding an adenosine triphosphate-binding cassette (ABC) transporter underlie the skin disease HI. In this study, we have sequenced the ABCA12 gene in an additional 14 patients and show that all contain mutations, with the majority being either nonsense substitution or frameshift mutations. Eleven HI patients had bi-allelic ABCA12 mutations, whereas in the remaining three HI patients in this study, ABCA12 mutations were detected on only one allele by sequencing. In addition, the one patient from the previous study where no sequence mutations were detected was screened for heterozygous deletions. A combination of oligonucleotide arrays, multiplex PCR analysis and single-nucleotide polymorphism genotyping revealed a heterozygous intragenic deletion in exon 8. These mutation data establish ABCA12 as the major HI gene.

ATP-Binding Cassette Transporters↗

Continuous microfluidic reactors for polymer particles.

This article provides an overview of our work in the area of the synthesis of polymer particles in continuous microfluidic reactors. The method includes (a) the generation of highly monodisperse monomer droplets in a microfluidic flow-focusing device and (b) in-situ solidification of these droplets by means of photopolymerization. We discuss the effect of monomer properties on the emulsification process, the effect of the polymerization rate on the production of high-quality particles, the role of the material of the microfluidic device in droplet formation, and the synthesis of particles with different shapes and compositions. We also demonstrate the production of highly ordered arrays of polymer particles achieved by photopolymerization of the dynamic lattices of monomer droplets in microfluidic channels. The article is concluded with a summary of future research directions in the production of polymer colloids in microfluidic reactors.

Journal Article↗

Family practice in the United States: a status report.

Since family practice was first recognized as a specialty in the late 1960s, considerable intellectual and organizational change has occurred in medicine, especially during the 1990s. To reflect on and reconsider the role of family practice in US health care, this article reviews the development of family practice as a specialty, provides a current assessment of the status of family medicine in the United States, and comments on issues that are of ongoing importance to family practice.

Family Practice↗

New pharmacotherapies for alcohol dependence.

Two pharmacotherapies recently introduced in Australia, acamprosate and naltrexone, provide a major advance in the treatment of severe alcohol dependence, a common condition leading to a considerable burden of illness and major costs to the community. Acamprosate and naltrexone reduce alcohol intake, and increase the likelihood and prolong the duration of abstinence (Level I evidence). Compared with naltrexone, the benefits of acamprosate have been confirmed in a larger number of studies involving larger numbers of patients with longer durations of follow-up. Unlike naltrexone, acamprosate appears to achieve a sustained benefit. There is no known interaction effect between alcohol and acamprosate or naltrexone. Both drugs are well tolerated, although naltrexone blocks the action of opioid analgesics. Adjunctive psychosocial treatment with close follow-up is required for acamprosate and recommended for naltrexone. As yet, no studies have reported a reduction in mortality following the use of any pharmacotherapy for alcohol dependence.

Acamprosate↗

Leveraging the power of the media to combat HIV/AIDS.

Improving HIV/AIDS prevention efforts, especially those focused on young people, is a key challenge in the fight against the pandemic. Since the mid-1990s the Henry J. Kaiser Family Foundation has partnered with U.S.-based media companies on comprehensive HIV/AIDS campaigns. This paper outlines the unique public education model that it is using, and how Kaiser is expanding this work globally by working with some of the largest media companies in the world to undertake new initiatives in Russia and India.

Adolescent↗

Length and content of family practice residency training.

BACKGROUND: Family practice residency programs are based largely on a model implemented more than 30 years ago. Substantial changes in medical practice, technology, and knowledge necessitate reassessment of how family physicians are prepared for practice. METHODS: We simultaneously surveyed samples of family practice residency directors, first-year residents, and family physicians due for their first board recertification examination to determine, using both quantitative and qualitative methods, their opinions about the length and content of family practice residencies in the United States. RESULTS: Twenty-seven percent of residency directors, 32% of residents, and 28% of family physicians favored extending family practice residency to 4 years; very few favored 2- or 5-year programs. There was dispersion of opinions about possible changes within each group and among the three groups. Most in all three groups would be willing to extend residency for more training in office-based procedures and sports medicine, but many were unwilling to extend residency for more training in surgery or hospital-based care. Residents expressed more willingness than program directors or family physicians to change training. Barriers to change included disagreement about the need to change; program financing and opportunity costs, such as loss of income and delay in debt repayment; and potential negative impact on student recruitment. CONCLUSION: Most respondents support the current 3-year model of training. There is considerable interest in changing both the length and content of family practice training. Lack of consensus suggests that a period of elective experimentation might be needed to assure family physicians are prepared to meet the needs and expectations of their patients.

Adult↗