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  • 1
    Language: English
    In: Journal of Medical Case Reports, 01 November 2010, Vol.4(1), p.353
    Description: Abstract Introduction Atraumatic splenic rupture is a rare event that has been associated with several infectious disease processes. In the active duty military population, potential exposure to these pathogens is significant. Here we discuss the case of an active duty Marine with spontaneous splenic rupture upon return from a six-month deployment in Iraq. Case presentation A previously healthy 30-year-old Caucasian male active duty Marine presented with abdominal pain, fever and diarrhea after deployment to Iraq in support of Operation Iraqi Freedom. Based on clinical and radiographic evidence, a diagnosis of spontaneous splenic rupture was ultimately suspected. After exploratory laparotomy with confirmation of rupture, splenectomy was performed, and the patient made a full, uneventful recovery. Histopathologic examination revealed mild splenomegaly with a ruptured capsule of undetermined cause. Conclusion Spontaneous splenic rupture is a rare event that may lead to life-threatening hemorrhage if not diagnosed and treated quickly. Although the cause of this patient's case was unknown, atraumatic splenic rupture has been associated with a variety of infectious diseases and demonstrates some risks the active duty military population may face while on deployment. Having an awareness of these pathogens and their role in splenic rupture, clinicians caring for military personnel must be prepared to recognize and treat this potentially fatal complication.
    Keywords: Medicine
    ISSN: 1752-1947
    E-ISSN: 1752-1947
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  • 2
    Language: English
    In: Journal of the American Academy of Dermatology, 2010, Vol.62(1), pp.159-161
    Description: To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.jaad.2009.01.021 Byline: Sven R. Quist (a), Ingolf Franke (a), Christian Sutter (b), Claus R. Bartram (b), Harald P. Gollnick (a), Martin Leverkus (a) Author Affiliation: (a) Department of Dermatology and Venerology, Otto-von-Guericke University, Magdeburg, Germany (b) Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany Article Note: (footnote) Funding sources: None., Conflicts of interest: None declared.
    Keywords: Medicine
    ISSN: 0190-9622
    E-ISSN: 1097-6787
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  • 3
    In: International Journal of Cancer, 15 September 2018, Vol.143(6), pp.1416-1425
    Description: To evaluate the role of constitutive epigenetic changes in normal body cells of /‐mutation negative patients, we have developed a deep bisulfite sequencing assay targeting the promoter regions of 8 tumor suppressor (TS) genes (, , , , , , , ) and the estrogene receptor gene (), which plays a role in tumor progression. We analyzed blood samples of two breast cancer (BC) cohorts with early onset (EO) and high risk (HR) for a heterozygous mutation, respectively, along with age‐matched controls. Methylation analysis of up to 50,000 individual DNA molecules per gene and sample allowed quantification of epimutations (alleles with 〉50% methylated CpGs), which are associated with epigenetic silencing. Compared to , which is representative for an average promoter, TS genes were characterized by a very low (〈 1%) average methylation level and a very low mean epimutation rate (EMR; 〈 0.0001% to 0.1%). With exception of , which showed an increased EMR in BC (0.31% vs. 0.06%), there was no significant difference between patients and controls. One of 36 HR BC patients exhibited a dramatically increased EMR (14.7%) in , consistent with a disease‐causing epimutation. Approximately one third (15 of 44) EO BC patients exhibited increased rates of single CpG methylation errors in multiple TS genes. Both EO and HR BC patients exhibited global underexpression of blood TS genes. We propose that epigenetic abnormalities in normal body cells are indicative of disturbed mechanisms for maintaining low methylation and appropriate expression levels and may be associated with an increased BC risk. What's new? Cancer can change patterns of DNA methylation, with widespread loss of methylation but also localized increases in methylation. Here, the authors analyzed blood cells, looking for differences in methylation between breast cancer patients and healthy persons. They developed a deep bisulfite sequencing assay to specifically test the promoter regions of 8 tumor suppressor genes, plus the estrogen receptor gene, along with reduced tumor suppressor gene expression. They found that breast cancer patients showed increased methylation changes in multiple tumor suppressor genes, reduced tumor suppressor gene expression. Thus, epigenetic abnormalities could indicate disruptions in the mechanisms that maintain proper methylation, and could signal increased tumor risk.
    Keywords: Allele Methylation Error ; Breast Cancer Susceptibility Gene ; Deep Bisulfite Sequencing ; Epimutation ; Early Onset Breast Cancer ; Familial Breast Cancer ; Single Cpg Hypermethylation ; Tumor Suppressor Gene
    ISSN: 0020-7136
    E-ISSN: 1097-0215
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  • 4
    Language: English
    In: Journal of Medical Case Reports, Nov 5, 2010, Vol.4, p.353
    Description: Introduction Atraumatic splenic rupture is a rare event that has been associated with several infectious disease processes. In the active duty military population, potential exposure to these pathogens is significant. Here we discuss the case of an active duty Marine with spontaneous splenic rupture upon return from a six-month deployment in Iraq. Case presentation A previously healthy 30-year-old Caucasian male active duty Marine presented with abdominal pain, fever and diarrhea after deployment to Iraq in support of Operation Iraqi Freedom. Based on clinical and radiographic evidence, a diagnosis of spontaneous splenic rupture was ultimately suspected. After exploratory laparotomy with confirmation of rupture, splenectomy was performed, and the patient made a full, uneventful recovery. Histopathologic examination revealed mild splenomegaly with a ruptured capsule of undetermined cause. Conclusion Spontaneous splenic rupture is a rare event that may lead to life-threatening hemorrhage if not diagnosed and treated quickly. Although the cause of this patient's case was unknown, atraumatic splenic rupture has been associated with a variety of infectious diseases and demonstrates some risks the active duty military population may face while on deployment. Having an awareness of these pathogens and their role in splenic rupture, clinicians caring for military personnel must be prepared to recognize and treat this potentially fatal complication.
    Keywords: Military Personnel -- Health Aspects ; Splenectomy -- Health Aspects ; Splenic Diseases -- Risk Factors ; Splenic Diseases -- Diagnosis ; Splenic Diseases -- Care And Treatment ; Splenic Diseases -- Case Studies
    ISSN: 1752-1947
    Source: Cengage Learning, Inc.
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  • 5
    Language: English
    In: Journal of Medical Case Reports, Nov 5, 2010, Vol.4, p.353
    Description: Introduction Atraumatic splenic rupture is a rare event that has been associated with several infectious disease processes. In the active duty military population, potential exposure to these pathogens is significant. Here we discuss the case of an active duty Marine with spontaneous splenic rupture upon return from a six-month deployment in Iraq. Case presentation A previously healthy 30-year-old Caucasian male active duty Marine presented with abdominal pain, fever and diarrhea after deployment to Iraq in support of Operation Iraqi Freedom. Based on clinical and radiographic evidence, a diagnosis of spontaneous splenic rupture was ultimately suspected. After exploratory laparotomy with confirmation of rupture, splenectomy was performed, and the patient made a full, uneventful recovery. Histopathologic examination revealed mild splenomegaly with a ruptured capsule of undetermined cause. Conclusion Spontaneous splenic rupture is a rare event that may lead to life-threatening hemorrhage if not diagnosed and treated quickly. Although the cause of this patient's case was unknown, atraumatic splenic rupture has been associated with a variety of infectious diseases and demonstrates some risks the active duty military population may face while on deployment. Having an awareness of these pathogens and their role in splenic rupture, clinicians caring for military personnel must be prepared to recognize and treat this potentially fatal complication.
    Keywords: Military Personnel -- Health Aspects ; Splenectomy -- Health Aspects ; Splenic Diseases -- Risk Factors ; Splenic Diseases -- Diagnosis ; Splenic Diseases -- Care And Treatment ; Splenic Diseases -- Case Studies
    ISSN: 1752-1947
    Source: Cengage Learning, Inc.
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  • 6
    In: International Journal of Cancer, 15 April 2015, Vol.136(8), pp.1845-1855
    Description: Breast cancer (BC) is the leading cause of cancer‐related mortality in women worldwide. Changes in DNA methylation in peripheral blood could be associated with malignancy at early stage. However, the BC‐associated DNA methylation signatures in peripheral blood were largely unknown. Here, we performed a genome‐wide methylation screening and identified a BC‐associated differentially methylated CpG site cg27091787 in the hyaluronoglucosaminidase 2 gene () (discovery round with 72 BC case and 24 controls: = 2.61 × 10 adjusted for cell‐type proportions). The substantially decreased methylation of cg27091787 in BC cases was confirmed in two validation rounds (first validation round with 338 BC case and 507 controls: 〈 0.0001; second validation round with 189 BC case and 189 controls: 〈 0.0001). In addition to cg27091787, the decreased methylation of a 650‐bp CpG island shore of was also associated with increased risk of BC. Moreover, the expression and methylation of were inversely correlated with a ‐value of 0.006. To note, the BC‐associated decreased methylation was replicated in the T‐cell fraction ( = 0.034). The cg27091787 methylation level enabled a powerful discrimination of early‐stage BC cases (stages 0 and I) from healthy controls [area under curve (AUC) = 0.89], and was robust for the detection of BC in younger women as well (age 〈 50, AUC = 0.87). Our study reveals a strong association between decreased methylation in peripheral blood and BC, and provides a promising blood‐based marker for the detection of early BC. What's new? Altered DNA methylation in peripheral blood may be indicative of early‐stage breast cancer, but methylation signatures await validation. The present study is among the first to identify and validate decreased methylation at CpG site cg27091787 in the gene as a potential marker of breast cancer. Methylation levels at cg27091787 were inversely associated with expression and were found to be indicative of breast cancer stage, thus enabling discrimination of early‐stage disease, as well as facilitating disease detection in women under age 50. Differential methylation at cg27091787 could serve as a blood‐based marker for early breast cancer detection.
    Keywords: Hyal2 ; Methylation ; Breast Cancer ; Early Detection ; Marker
    ISSN: 0020-7136
    E-ISSN: 1097-0215
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  • 7
    Language: English
    In: International Journal of Cancer, 15 March 2012, Vol.130(6), pp.1314-1318
    Description: Dysregulation of apoptosis plays an important role in carcinogenesis. Therefore, apoptosis‐associated genes like the () are interesting candidates for modifying the penetrance of breast and ovarian cancer in carriers of and mutations. The haplotype 626C–683C [626C〉G, Thr209Arg (rs4871857) and 683A〉C, Glu228Ala (rs17088993)] has recently been linked to an increased risk of breast cancer. To evaluate whether 626C〉G or 683A〉C modifies the risk of breast or ovarian cancer in carriers of and mutations, we undertook a national multicenter study including data of 840 carriers of breast cancer gene (BRCA) mutations. DNA samples were collected from 12 German research centers between 1996 and 2005 and were genotyped by the Taqman allelic discrimination assay. The association between genotypes and incidence of breast or ovarian cancer data was evaluated using a Cox proportional hazards regression model. We found evidence for a significant association of 683A〉C with a higher risk for ovarian cancer in carriers of mutations [ = 557, hazard ratio 1.78 (1.24–2.55), = 0.009]. Our results thus indicate that the 683A〉C variant modifies the risk of ovarian cancer in carriers of BRCA1 mutations.
    Keywords: Brca ; Ovarian Cancer ; Breast Cancer ; Death Receptor 4 ; Snp
    ISSN: 0020-7136
    E-ISSN: 1097-0215
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  • 8
    Language: English
    In: International Journal of Cancer, 15 June 2010, Vol.126(12), pp.2858-2862
    Description: To validate common low‐risk variants predisposing for breast cancer (BC) in a large set of negative familial or genetically enriched cases from Germany, we genotyped 1,415 cases and 1,830 healthy women by MALDI‐TOF in 105 candidate SNPs. Significantly higher ORs than previously reported for heterozygous unselected cases were found for the minor allele in FGFR2 (OR = 1.43, 95% CI 1.30‐1.59, = 1.24 × 10) and for TNRC9 (OR = 1.33, 95% CI 1.19‐1.46, = 1.54 × 10). Most intriguing, however, were the ORs for homozygous carriers from high‐risk families for (OR = 2.05, 95% CI 1.68–2.51, (OR = 0.49, 95% CI 0.28–0.86) and (OR = 1.62, 95% CI 1.27–2.07). Moreover, the additional validation of 99 CGEMS‐SNPs identified putative novel susceptibility alleles within the gene (OR = 0.73, 95% CI 0.61–0.87, ‐value = 5.23 × 10. Finally, we provide evidence for the first time that a low‐risk variant located at (rs6569479) is associated with estrogen receptor negative BC in familial cases (OR = 1.33, 95% CI 1.06–1.66; ‐value = 0.012). Our data confirm the impact of the previously identified susceptibility loci and provide preliminary evidence for novel susceptibility loci in familial BC cases and correlate them to specific histopathological subtypes defined by estrogen receptor status.
    Keywords: Snp ; Cgems ; Familial Breast Cancer ; Polymorphism ; Breast Cancer Risk
    ISSN: 0020-7136
    E-ISSN: 1097-0215
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  • 9
    In: European Journal of Human Genetics, 2014
    Description: SATB2, a gene encoding a highly conserved DNA-binding protein, is known to have an important role in craniofacial and neuronal development. Only a few patients with SATB2 variants have been described so far. Recently, Döcker et al provided a summary of these patients and delineated the SAS (SATB2-associated syndrome). We here report on a girl with intellectual disability, nearly absent speech and suspected hypodontia who was shown to carry an intragenic SATB2 tandem duplication hypothesized to lead to haploinsufficiency of SATB2. Preliminary information on this patient had already been included in the article by Döcker et al. We want to give a detailed description of the patient's phenotype and genotype, providing further insight into the spectrum of the molecular mechanisms leading to SAS.
    Keywords: Medicine ; Biology;
    ISSN: 1018-4813
    E-ISSN: 14765438
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  • 10
    Language: English
    In: Journal of Behavioral Medicine, 2005, Vol.28(4), pp.301-312
    Description: This study examined the effect of conservative and surgical treatment success/failure on attributions by surgeons for low back surgical outcomes. It also examined empathy as a moderator of these attributions. Forty surgeons attributed surgical outcome in a hypothetical patient to physical and psychological factors. Results indicated that surgeons were less likely to attribute the cause of surgical failure to physical factors when the patient had already failed conservative treatment for low back pain. Surgeons also were more likely to attribute failed surgery, relative to successful surgery, to patient psychological factors. An interaction effect indicated that the latter difference was significant only when the patient had previously succeeded at conservative treatment. Empathy moderated this effect: empathic surgeons were less likely to see the failed surgery patient as psychologically culpable. This self-serving attributional style, as moderated by empathy, is discussed regarding its potential impact on patient care and physician judgment processes.
    Keywords: surgeons ; low back pain ; attribution ; empathy
    ISSN: 0160-7715
    E-ISSN: 1573-3521
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