18 research outputs found
Packaging case studies - folding or set up?
Thesis (M.B.A.)--Boston University, 1949. This item was digitized by the Internet Archive
Rare X chromosome abnormalities in systemic lupus erythematosus and Sjögren's syndrome
Objective: Sjögren's syndrome (SS) and systemic lupus erythematosus (SLE) are related by clinical and serologic manifestations as well as genetic risks. Both diseases are more commonly found in women than in men, at a ratio of ~10 to 1. Common X chromosome aneuploidies, 47,XXY and 47,XXX, are enriched among men and women, respectively, in either disease, suggesting a dose effect on the X chromosome. Methods: We examined cohorts of SS and SLE patients by constructing intensity plots of X chromosome single-nucleotide polymorphism alleles, along with determining the karyotype of selected patients. Results: Among ~2,500 women with SLE, we found 3 patients with a triple mosaic, consisting of 45,X/46,XX/47,XXX. Among ~2,100 women with SS, 1 patient had 45,X/46,XX/47,XXX, with a triplication of the distal p arm of the X chromosome in the 47,XXX cells. Neither the triple mosaic nor the partial triplication was found among the controls. In another SS cohort, we found a mother/daughter pair with partial triplication of this same region of the X chromosome. The triple mosaic occurs in ~1 in 25,000–50,000 live female births, while partial triplications are even rarer. Conclusion: Very rare X chromosome abnormalities are present among patients with either SS or SLE and may inform the location of a gene(s) that mediates an X dose effect, as well as critical cell types in which such an effect is operative. © 2017, American College of Rheumatolog
Bax, cytochrome c, and caspase-8 staining in parotid cancer patients: Markers of susceptibility in radiotherapy?
OBJECTIVE: Negative bcl-2 and HLA-DR protein expression have been
associated with responsiveness to adjuvant radiotherapy in surgically
treated parotid cancer patients. The aim of this study was to
investigate the prognostic significance of bax, cytochrome c, and
caspase-8 protein expression in a group of surgically treated patients
to determine whether they also suggest markers of responsiveness to
adjuvant radiotherapy.
STUDY DESIGN: Historical cohort study.
SETTING: Otolaryngology department in a university hospital.
SUBJECTS AND METHODS: The immunohistochemical expression of bax,
cytochrome c, and caspase-8 were studied in paraffin-embedded tissue
specimens originating from 27 surgically treated parotid cancer patients
and nine patients with Warthin parotid tumors (control group) and
correlated with the patients’ clinicopathological characteristics and
clinical outcome.
RESULTS: Caspase-8 negative staining was more frequently observed in
higher TNM stages and in tumors measuring more than 4 cm (P = 0.009 and
P = 0.018, respectively). Caspase-8 (-)/cytochrome c (-) patients
carried low-grade lesions without nodal involvement (P = 0.01 and P =
0.05, respectively). Caspase-8 (-) patients who received postoperative
radiotherapy presented a significantly increased disease-free survival
compared to those who did not (P = 0.04). Patients bearing bax (-)
tumors who received postoperative radiotherapy presented an improved
four-year disease-free survival compared to bax (-) patients who did not
receive any type of adjuvant radiotherapy (P = 0.017).
CONCLUSION: Bax, cytochrome c, and caspase-8 protein expression failed
to independently predict survival in parotid cancer patients. However,
patients with bax (-) or caspase-8 (-) tumors should be considered as
candidates for adjuvant radiotherapy in order to achieve better local
disease control. (C) 2010 American Academy of Otolaryngology Head and
Neck Surgery Foundation. All rights reserved
Clin. Immunol. 168 (2016) 25–29(S1521661616300614)(10.1016/j.clim.2016.04.002)
"In the published version of the above mentioned article, the author name “Katherine A Siminovitch” was not included. The authorship and affiliation given above is updated with all the author names and their respective affiliations for this article. © 2017
Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome
"Objective: Sjögren's syndrome (SS) and systemic lupus erythematosus (SLE) are related by clinical and serologic manifestations as well as genetic risks. Both diseases are more commonly found in women than in men, at a ratio of ~10 to 1. Common X chromosome aneuploidies, 47,XXY and 47,XXX, are enriched among men and women, respectively, in either disease, suggesting a dose effect on the X chromosome. Methods: We examined cohorts of SS and SLE patients by constructing intensity plots of X chromosome single-nucleotide polymorphism alleles, along with determining the karyotype of selected patients. Results: Among ~2,500 women with SLE, we found 3 patients with a triple mosaic, consisting of 45,X/46,XX/47,XXX. Among ~2,100 women with SS, 1 patient had 45,X/46,XX/47,XXX, with a triplication of the distal p arm of the X chromosome in the 47,XXX cells. Neither the triple mosaic nor the partial triplication was found among the controls. In another SS cohort, we found a mother/daughter pair with partial triplication of this same region of the X chromosome. The triple mosaic occurs in ~1 in 25,000–50,000 live female births, while partial triplications are even rarer. Conclusion: Very rare X chromosome abnormalities are present among patients with either SS or SLE and may inform the location of a gene(s) that mediates an X dose effect, as well as critical cell types in which such an effect is operative. © 2017, American College of Rheumatology