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17 results on '"Gallagher, Barry"'

2. Using next-generation sequencing for the diagnosis of rare disorders : a family with retinitis pigmentosa and skeletal abnormalities

Author

Schrader, Kasmintan, Heravi-Moussavi, Alireza, Waters, Paula J., Senz, Janine, Whelan, James, Eydoux, Patrice, Nielsen, Torsten, Gallagher, Barry, Oloumi, Arusha, Boyd, Niki, Fernandez, Bridget A., Young, Terry-Lynn, Jones, Steve J. M., Hirst, Martin, Shah, Sohrab P., Marra, Marco, and Green, Jane

Abstract

Linkage analysis with subsequent candidate gene sequencing is typically used to diagnose novel inherited syndromes. It is now possible to expedite diagnosis through the sequencing of all coding regions of the genome (the exome) or full genomes. We sequenced the exomes of four members of a family presenting with spondylo-epiphyseal dysplasia and retinitis pigmentosa and identified a six-base-pair (6-bp) deletion in GNPTG, the gene implicated in mucolipidosis type IIIγ. The diagnosis was confirmed by biochemical studies and both broadens the mucolipidosis type III phenotype and demonstrates the clinical utility of nextgeneration sequencing to diagnose rare genetic diseases.

Published
2021
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3. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene

Author

Merner, Nancy D., Hodgkinson, Kathy A., Haywood, Annika F.M., Connors, Sean, French, Vanessa M., Drenckhahn, Jorg-Detlef, Kupprion, Christine, Ramadanova, Kalina, Thierfelder, Ludwig, McKenna, William, Gallagher, Barry, Morris-Larkin, Lynn, Bassett, Anne S., Parfrey, Patrick S., and Young, Terry-Lynn

Subjects
Arrhythmia -- Genetic aspects, Gene mutations -- Research, Cardiomyopathy -- Care and treatment, Cardiomyopathy -- Genetic aspects, Heart diseases -- Care and treatment, Heart diseases -- Genetic aspects, Biological sciences
Abstract

The effects and the treatments that are being used to treat arrhythmogenic right ventricular cardiomyopathy (ARVC) type 5, a fully penetrant and lethal arrhythmic disorder are discusses. ARVC is caused by a missense mutation in the TMEM43 gene and causes sudden cardiac death.

Published
2008

5. Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities

Author

Schrader, Kasmintan A, Heravi-Moussavi, Alireza, Waters, Paula J, Senz, Janine, Whelan, James, Ha, Gavin, Eydoux, Patrice, Nielsen, Torsten, Gallagher, Barry, Oloumi, Arusha, Boyd, Niki, Fernandez, Bridget A, Young, Terry-Lynn, Jones, Steven JM, Hirst, Martin, Shah, Sohrab P, Marra, Marco A, Green, Jane, and Huntsman, David G

Published
2011
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12. Vision-The Strategic Leader Imperative

Author

ARMY WAR COLL CARLISLE BARRACKS PA, Gallagher, Barry B., ARMY WAR COLL CARLISLE BARRACKS PA, and Gallagher, Barry B.

Abstract

The success or failure of the United States Army has always rested in the hands of senior leaders who provide the vision and direction that all large organizations require. Vision, the ability to imagine and create a sense of the future, is a critical conceptual skill that strategic leaders must possess to successfully lead large organizations. Strategic leaders are tasked with the responsibility of shaping the vision, values, and direction of large organizations. Their world is full of complexity, uncertainty, and ambiguity, but they must be able to develop a clear picture of the future in order to lead their organization in the proper direction. The purpose of this paper is to demonstrate the importance of vision and the strategic leader's responsibility to develop organizational vision. It will define vision and explain why it is important. The characteristics of an effective vision will be explained and examples will be given. It will examine the abilities and knowledge that strategic leaders must possess to effectively demonstrate this skill. Two basic methods for developing organizational vision will be explained along with the advantages and disadvantages of each method. Finally, steps that strategic leaders can take to increase their visionary skills will be examined.

Published
1998

16. Corpora amylacea in a leiomyoma of soft tissue.

Author

Gallagher B, Schipper HM, Bakhet M, and Barron J

Subjects
Adult, Female, Humans, Immunoenzyme Techniques, Leiomyoma diagnostic imaging, Leiomyoma surgery, Soft Tissue Neoplasms diagnostic imaging, Soft Tissue Neoplasms surgery, Tomography, X-Ray Computed, Treatment Outcome, Inclusion Bodies pathology, Leiomyoma pathology, Soft Tissue Neoplasms pathology
Abstract

A case of myxoid leiomyoma of deep soft tissue is described. The patient was a 42-year-old woman who presented with menorrhagia, and an ischiorectal mass was identified. A total hysterectomy was performed, and the mass was removed. On gross examination, the mass was 6cm x 5cm x 4cm and had a mucoid cut surface. Histologic examination revealed a myxoid leiomyoma with abundant intracellular corpora amylacea (CA). An infarcted leiomyoma was present in the hysterectomy specimen. The patient remains well, with no evidence of recurrence 3 years after surgery. Leiomyomas of deep soft tissue are rare, and, to our knowledge, none have been described containing CA.

Published
2007
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17. Acute carpal tunnel syndrome due to filarial infection.

Author

Gallagher B, Khalifa M, Van Heerden P, and Elbardisy N

Subjects
Acute Disease, Adult, Animals, Brugia cytology, Brugia isolation & purification, Canada, Carpal Tunnel Syndrome parasitology, Carpal Tunnel Syndrome surgery, Filariasis complications, Filariasis surgery, Humans, Male, Synovial Membrane parasitology, Synovial Membrane pathology, Carpal Tunnel Syndrome pathology, Filariasis pathology
Abstract

A case of acute carpal tunnel syndrome (CTS) due to filarial infection is reported in a resident of Newfoundland, Canada. The patient presented with classical symptoms and signs of acute CTS and a filarial worm was identified in synovial tissue removed during surgery that was morphologically consistent with the genus Brugia. Antifilarial antibodies were present in serum. Surgical removal of the infected tissue, without administration of antifilarial drugs, proved adequate in eradicating the infection and a subsequent serum sample was negative for antifilarial antibodies. The patient remains asymptomatic more than two years after surgery. This case is unusual in its clinical presentation and geographic location.

Published
2002
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