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  • 1
    Abstract: BACKGROUND: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an inexpensive genotyping microarray, the OncoArray. The array includes a genome-wide backbone, comprising 230,000 SNPs tagging most common genetic variants, together with dense mapping of known susceptibility regions, rare variants from sequencing experiments, pharmacogenetic markers and cancer related traits. METHODS: The OncoArray can be genotyped using a novel technology developed by Illumina to facilitate efficient genotyping. The consortium developed standard approaches for selecting SNPs for study, for quality control of markers and for ancestry analysis. The array was genotyped at selected sites and with prespecified replicate samples to permit evaluation of genotyping accuracy among centers and by ethnic background. RESULTS: The OncoArray consortium genotyped 447,705 samples. A total of 494,763 SNPs passed quality control steps with a sample success rate of 97% of the samples. Participating sites performed ancestry analysis using a common set of markers and a scoring algorithm based on principal components analysis. CONCLUSIONS: Results from these analyses will enable researchers to identify new susceptibility loci, perform fine mapping of new or known loci associated with either single or multiple cancers, assess the degree of overlap in cancer causation and pleiotropic effects of loci that have been identified for disease-specific risk, and jointly model genetic, environmental and lifestyle related exposures. IMPACT: Ongoing analyses will shed light on etiology and risk assessment for many types of cancer.
    Type of Publication: Journal article published
    PubMed ID: 27697780
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  • 2
    Abstract: Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P 〈 5 x 10-8 with ten variants at nine new loci. At P 〈 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
    Type of Publication: Journal article published
    PubMed ID: 29058716
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  • 3
    ISSN: 1432-0509
    Keywords: Key words: Appendix—Mucocele—Tumor—US—CT.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Background: Mucocele of the appendix is a rare disease entity, but preoperative diagnosis is very important. With the advent of ultrasonography (US) and computed tomography (CT), it has been possible to preoperatively diagnose mucocele of the appendix. We describe the spectrum of US and CT findings of mucocele of the appendix and the differential points from mimicking diseases. Methods: We evaluated 17 patients with pathologically proven mucocele of the appendix by using US and CT. Pathologic diagnoses of 17 patients were mucinous cystadenoma in 11 patients, mucinous cystadenocarcinoma in two, and mucosal hyperplasia in four. We analyzed morphologic characteristics of mucocele of the appendix at US and CT. Results: The typical US finding were a cystic mass with variable internal echogenicity, layered wall, and calcification in the wall. The CT finding was a well-encapsulated cystic mass with a wall of variable thickness. Both cases with focal nodular solid enhancing portion in the wall on CT were pathologically proven as mucinous cystadenocarcinoma. Conclusion: US and CT were useful methods in diagnosing mucocele of the appendix and differentiating this condition from mimicking diseases. Nodular enhancing lesion in the wall of the mucocele may be a finding suggestive of malignant cause of mucocele.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1399-3054
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology
    Notes: Some physiological and biochemical changes in apple seedlings (Malus domestica Borkh cv. ‘York Imperial’) caused by an inhibitor of gibberellin biosynthesis, paclobutrazol [(2RS, 3RS)-1-(4-chlorophenyl)-4,4-dimethyl-2-(1,2,4-triazol-1-yl) pentan-3-ol], were determined. Paclobutrazol shifted assimilate partitioning from leaves to roots, increased carbohydrates in all parts of apple seedlings, increased chlorophyll content on a leaf area basis, increased soluble protein in leaves, increased mineral element concentration in leaf tissue and increased root respiration. Foliar application of gibberellic acid (GA3) counteracted the effects induced by paclobutrazol.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1399-3054
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology
    Notes: ‘York Imperial’ apple seedlings (Malus domestica Borkh.) were continuously supplied via the roots with paclobutrazol [(2RS, 3RS)-1-(4-chlorophenyl)-4,4-dimethyl-2-(1,2,4-triazol-1-yl)pentan-3-ol)], a triazole GA biosynthesis inhibitor, at 0.68 μM in a nutrient solution. In comparison to controls, seedlings treated with paclobutrazol for 66 days showed a 91% reduction in shoot length, a 66% reduction in leaf area but only a 17% reduction in leaf number. This effect could be reversed by GA3 applied to the foliage at 71.4 μM 0, 19 or 35 days after paclobutrazol was initially supplied and leaf area values for paclobutrazol-treated seedlings given both treatments did not differ significantly from controls. Plots of growth data indicate linearity of shoot longitudinal growth of GA3-treated seedlings. Leaf area increase was non-linear after GA3 treatment up to approximately 30 days, when the rate dropped. On a per shoot basis, leaf weight closely followed leaf area but on a per unit area basis, paclobutrazol-treated leaves were heavier than controls; GA3 applications temporarily reversed this trend.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Six hundred and twenty-five sets of supine and erect abdominal radiographs of 288 patients with the confirmed diagnosis of intussusception (315 episodes) and 310 patients without intussusception were reviewed retrospectively to determine the characteristic radiographic features of intussusception. Among the patients with intussusception, 155 episodes (49%) showed a soft tissue mass and nearly half of these (71) showed characteristic radiolucencies (target, crescentic, or amorphous) in the soft tissue mass. Thirty-five episodes showed the radiolucencies on both the supine and erect radiographs; in 16 cases the type of radiolucency differed on the two films. In patients without intussusception, abnormal radiolucencies were seen in only seven cases (2.3%). Computed tomography performed prospectively in five patients showed the radiolucencies in the soft tissue mass to be intussuscepted mesenteric fat. We conclude that abnormal radiolucencies in the soft tissue mass on plain radiographs are characteristic of intussusception.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1793
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Otolith growth during metamorphosis and some aspects of the early life history of conger eel (Conger myriaster) were determined as indicated from microstructure in otoliths of the leptocephali collected from Cheonsu Bay, Korea during May and June 1988. The leptocephali occurred from early May to late June in the study area. Larvae collected in early May were in the late leptocephalus stage, and the proportion of the metamorphosing leptocephali increased over time. Otoliths in the late leptocephalus stage showed a translucent zone only. Although the fish did not feed and the body length diminished during metamorphosis, the otolith continued to grow and, consequently, the opaque zone was formed outside the translucent zone. The inner translucent zone can be considered a leptocephalus zone, and the outer opaque zone a metamorphic zone. Assuming that the growth increments were deposited daily from hatching, the conger eel can be considered to have hatched between September and February. The number of increments in the inner hyaline zone ranged from 124 to 239, and was assumed to represent the number of days from hatching to the onset of metamorphosis. The duration of metamorphosis was estimated as 51 to 75 d based on the number of increments in the opaque zone at the end of the metamorphic stage.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1435-0130
    Keywords: Burns ; Lower extremities ; Reconstruction ; Free tissue transfer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Three latissimus dorsi muscle flaps with skin grafts, one latissimus dorsi myocutaneous flap, and one scapular flap were used in reconstruction of deep burns of the heels and calf caused by various agents. The follow-up period was 11 to 46 months. Of the five patients treated, two sustained electrical injuries, two had contact burns and one suffered a degloving injury with a contact burn resulting from a car accident. The latissimus dorsi muscle flaps with skin grafts gave excellent results in reconstruction of the calf and ankle areas due to their large caliber vessels and versatility. The latissimus dorsi myocutaneous flap was indicated in a case with extensive soft tissue loss on the sole of the foot with stiffness of the ankle joint in plantar flexion. A non-sensory scapular flap was satisfactory for reconstruction of the medial half of the heel since the remaining lateral half of the heel provided adequate sensation for weight-bearing and protection. Early reconstruction of the burned lower part of the leg with free flaps shortens hospitalization and prevents further extension of the injury. Reconstruction of a burned distal lower extremity provides a challenge for the reconstructive surgeon due to limited availability of local tissue; there is durable soft tissue in the weight-bearing area and a relatively poor blood supply compared to other areas of the body. The basic requirement in the treatment of a full thickness burn is early debridement and immediate coverage of the defect with a skin graft or a well vascularized flap. Even though multiple local flaps, such as axial [7, 17], muscle [1], musculocutaneous [5], fasciocutaneous [11], and island flaps [4], have been described. These flaps are useful in relatively small wounds with undamaged sourrounding tissues. Electrical injuries are manifested in a variety of clinical and pathologic ways with early, as well as delayed, tissue damage complicating reconstruction. With the advent and refinement of microvascular techniques, it has become possible to reconstruct extensive defects of the distal lower extremity with either free muscle flaps with skin grafts [8], myocutaneous free flaps [10], or axial free flaps [18]. This paper relates our experience in reconstruction of extensive defects of the lower extremities caused by various burning agents.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1435-0130
    Keywords: Esophageal reconstruction ; Free radial forearm flap
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Treatment of cancer of the cervical aerodigestive tract is challenging due in part to the difficulty in reestablishment of pharyngoesophageal continuity after resection of the involved tract. From May 1989 to August 1990, six patients underwent immediate reconstruction utilizing microvascular transfer of free radial forearm flaps following resection of pharyngoesophageal neoplasms. A small island flap connected to the radial vascular pedicle by fasciocutaneous branch was used to monitor the vascular condition of the hidden fabricated free forearm flap. Stricture is the most troublesome complication of esophageal reconstruction using a conventional free forearm flap. Two small triangular flaps were designed and inserted bilaterally in the distal anastomosis of both lateral esophageal walls to prevent circular contracture. The outer layer sutures were anchored to surrounding rigid structures to withstand shrinkage and circular contraction. The problem of stricture was solved by these procedures. This one-stage, easily monitored operation for pharyngoesophageal reconstruction is considered to be as useful as a free jejunal transfer.
    Type of Medium: Electronic Resource
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