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Biomedical subjects

James Taylor

Publications and source records attributed to James Taylor.

26 records · Page 2Linked to original sources

Regulatory potential scores from genome-wide three-way alignments of human, mouse, and rat.

We generalize the computation of the Regulatory Potential (RP) score from two-way alignments of human and mouse to three-way alignments of human, mouse, and rat. This requires overcoming technical challenges that arise because the complexity of the models underlying the score increases exponentially with the number of species. Despite the close evolutionary proximity of rat to mouse, we find that adding the rat sequence increases our ability to predict genomic sites that regulate gene transcription. A variant of the RP scoring scheme that accounts for local variation in neutral mutational patterns further improves our predictions.

Actins↗

A suspected case of Abruzzo-Erickson syndrome.

The features of Abruzzo-Erickson syndrome are described. A case report of an adult female suspected to have this condition is described and illustrated. The possible link to Abruzzo-Erickson syndrome and differential diagnosis of CHARGE is discussed.

Abnormalities, Multiple↗

Transverse myelitis as the first manifestation of systemic lupus erythematosus or lupus-like disease: good functional outcome and relevance of antiphospholipid antibodies.

OBJECTIVE: Transverse myelitis (TM) is a rare complication of systemic lupus erythematosus (SLE). Although usually a late manifestation of SLE, it can occur at presentation. We investigated the clinical presentation, treatment and outcome of 15 patients with TM as the presenting manifestation of SLE or lupus-like disease. METHODS: All patients received corticosteroids, while 13 also received immunosuppressive therapy. Five patients were fully anticoagulated with warfarin. RESULTS: A sensory level with spastic lower limb weakness and sphincter disturbance was the most common presentation: 14/15 patients had a thoracic or cervical sensory level. Cerebrospinal fluid examination showed high protein concentrations in 3 patients and oligoclonal bands in 8. Eleven of the 15 (73%) had antiphospholipid antibodies (aPL). Of the 15 patients, 3 had complete resolution of the symptoms, 6 had good functional improvements, 5 had good to fair outcome with some functional deficit, and one patient who received corticosteroids alone later died from pneumonia. CONCLUSION: We describe 15 patients with TM as the presenting manifestation of SLE or lupus-like disease with a high prevalence of aPL. Our data support the view that early diagnosis and immunosuppressive therapy may be superior to corticosteroids alone in improving functional outcome. In those patients with aPL, antiplatelet agents and/or warfarin should also be considered.

Adult↗

Measurement of bone defects adjacent to acetabular components of hip replacement.

Computed tomography can assist in the detection of periprosthetic osteolysis, but it has not been used to measure the actual volume of bone defects adjacent to hip replacement components because of the scanning artifact caused by metal. The aim of the current study was to develop a spiral computed tomography technique that provides precise and reliable volumetric measurement of bone defects adjacent to uncemented metal-backed acetabular components. Computed tomography scans were taken of small and large defects of known volume created in the ilium in a bovine hemipelvis and a pelvis from a cadaver. Scans were analyzed by two independent observers. The computed tomography operating conditions were determined that enabled volumetric measurements and that were accurate to within 96% for small and large defects and precise to greater than 98% for small and large defects. This computed tomography technique has the capability to measure accurately and precisely the volume of bone defects in the ilium adjacent to metal-backed acetabular components. This technique has clear advantages over plain radiographs. It will allow investigation of the natural history of osteolytic lesions, enhance preoperative planning, and improve monitoring of the outcomes of treatments of osteolysis.

Acetabulum↗

The histopathologic spectrum of cryofibrinogenemia in four anatomic sites. Skin, lung, muscle, and kidney.

Although the histologic characteristics of cryofibrinogenemia have been described in skin lesions, the literature is largely devoid of descriptions of this disorder in other organs. This series is the first to document the histopathologic manifestations of intrapulmonary, intramuscular, and renal cryofibrinogenemia. We describe the histopathologic manifestations of cryofibrinogenemia in 10 cases with manifestations in 4 organ systems: skin in 7 cases, skeletal muscle in 2, lung in 2, and kidney in 1. Irrespective of anatomic site, all lesions showed an occlusive thrombotic diathesis comprising eosinophilic refractile deposits within vessel lumina with extension into the intima, with or without an accompanying characteristic granulomatous vasculitic component. Ultrastructural examination of the renal deposits showed fibrillary material within glomerular capillary lumina with unique morphologic features not previously described. Analysis of plasma from several cases revealed a cold-precipitable protein, which in most cases included a monoclonal paraprotein. The laboratory and histologic distinctions between cryofibrinogenemia and cryoglobulinemia are addressed. We provide guidelines for the proper handling of patient specimens in the workup of cryofibrinogenemia.

Adult↗

Prevalence of asymptomatic incidental aneurysms: review of 4568 arteriograms.

OBJECT: The prevalence of unruptured cerebral aneurysms is unknown, but is estimated to be as high as 5%. The goal of this study was to determine the prevalence of asymptomatic incidental aneurysms. METHODS: The authors studied all cerebral arteriography reports produced at a single institution, the University of Virginia, between April 1969 and January 1980. A review of 3684 arteriograms demonstrated 24 cases of asymptomatic aneurysms, yielding a prevalence rate of 0.65%. The majority (67%) of the 24 patients harboring unruptured aneurysms were women. More than 90% of the unruptured aneurysms were located in the anterior circulation and in locations similar to those found in patients with ruptured aneurysms. Nearly 80% of the aneurysms were smaller than 1 cm in their greatest diameter. The frequency of asymmetrical unruptured aneurysms (0.6-1.5%) was constant throughout all relevant age ranges (35-84 years). CONCLUSIONS: While keeping in mind appropriate caveats in extrapolating from these data, the prevalence rate of asymptomatic unruptured aneurysms found in the present study allows an estimation of the yearly rate of rupture of these lesions. The authors suggest that this yearly rate of rupture falls within the range of 1 to 2%.

Adult↗

Breast cancer pseudometastasis in a sentinel lymph node with cytokeratin-positive debris.

We report extensive pseudometastasis detected by immunohistochemical (IHC) staining within a sentinel lymph node. An 83-year-old woman underwent simple mastectomy and sentinel lymph node biopsy (SLNB) for infiltrating ductal carcinoma. Intraoperative frozen section of the SLNB specimen appeared histologically negative for metastasis. IHC staining for cytokeratin in permanent sections, however, showed what was reported as micrometastasis in the subcapsular sinus. Since these cells did not resemble the primary tumor cells morphologically, and had actually been called histiocytes in the frozen section, further IHC staining was done. The subcapsular cells were negative for epithelial membrane antigen (EMA) staining, but they were positive for CD68, a macrophage marker. Thus the cytokeratin-positive cells were not metastatic breast tumor cells, but rather were histiocytes with phagocytized cytokeratin debris. This case report illustrates that IHC staining for cytokeratin in SLNB specimens for breast cancer must be supported by morphologic assessment and further appropriate staining before it can become the basis for treatment decisions.

Aged↗