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Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population

Lynch syndrome caused by constitutional mismatch-repair defects is one of the most common hereditary cancer syndromes with a high risk for colorectal, endometrial, ovarian and urothelial cancer. Lynch syndrome is caused by mutations in the mismatch repair (MMR) genes i.e., MLH1, MSH2, MSH6 and PMS2. After 20 years of genetic counseling and genetic testing for Lynch syndrome, we have compiled the m

Risk of ocular manifestations in patients with giant cell arteritis : a nationwide study in Sweden

Objective: No large-scale nationwide study has determined the risk of ocular manifestations in patients with giant cell arteritis (GCA). The aim was to study the incidence and risk factors of ocular manifestations in patients with GCA in Sweden. Method: A national cohort was created by linking Swedish nationwide registers. GCA patients were identified from the Swedish Hospital Inpatient and Outpat

SF-36 Shows Increased Quality of Life Following Complete Reduction of Postmastectomy Lymphedema with Liposuction

Background: Arm lymphedema after breast cancer surgery affects women both from physical and psychological points of view. Lymphedema leads to adipose tissue deposition. Liposuction and controlled compression therapy (CCT) reduces the lymphedema completely. Methods and Results: Sixty female patients with arm lymphedema were followed for a 1-year period after surgery. The 36-item short-form health s

Technical considerations for the use of CRISPR/Cas9 in hematology research

The hematopoietic system is responsible for transporting oxygen and nutrients, fighting infections, and repairing tissue damage. Hematopoietic system dysfunction therefore causes a range of serious health consequences. Lifelong hematopoiesis is maintained by repopulating multipotent hematopoietic stem cells (HSCs) that replenish shorter-lived, mature blood cell types. A prokaryotic mechanism of im

Quality of Academic Writing for Engineering Students at Lund University

The development of good writing skills is fundamental not only to publish scientific results, but also to have a deeper understanding of complex subjects. However reports from the Swedish Higher Education Authority from 2012-2015 suggest that engineering students at Lund University have unsatisfactory academic writing skills. Our paper investigates how students of the Faculty of Engineering at Lun

Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families

Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage

Oncoplastic Breast Surgery Compared to Conventional Breast-Conserving Surgery With Regard to Oncologic Outcome

Introduction: Oncoplastic breast surgery (OBS) has been implemented with increasing frequency in the treatment of breast cancer. The aim of this study was to compare the oncologic outcome after OBS to the outcome after conventional breast-conserving surgery (BCS) in patients with invasive breast cancer. Patients and Methods: In all, 197 patients treated with OBS were compared to 1399 patients trea

The specific organism : Not bacterial gram type: Drives the inflammatory response in septic shock

Background and Hypothesis: The inflammatory response was targeted by unsuccessful therapies but ignored pathogen. We hypothesized that the inflammatory response differs according to organism in human septic shock. Materials and Methods: We measured 39 cytokines at baseline and 24 h in patients (n = 363) in the Vasopressin and Septic Shock Trial (VASST). We compared cytokine profiles (cytokine func

A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk

Large-scale genome-wide association studies (GWAS) have identified approximately 35 loci associated with epithelial ovarian cancer (EOC) risk. The majority of GWAS-identified disease susceptibility variants are located in noncoding regions, and causal genes underlying these associations remain largely unknown. Here, we performed a transcriptome-wide association study to search for novel genetic lo

Phenocopies in melanoma-prone families with germ-line CDKN2A mutations

Purpose: Carriers of CDKN2A mutations have high risks of melanoma and certain other cancers. In this study we examined the occurrence of tumors among CDKN2A wild type (wt) members of melanoma-prone families with CDKN2A mutations. Methods: Swedish and US melanoma-prone families with CDKN2A mutations were included. Data was collected on tumors diagnosed among family members. Among the CDKN2A mutated

Second primary cancers in non-Hodgkin lymphoma : Family history and survival

Second primary cancers (SPCs) account for an increasing proportion of all cancer diagnoses and family history of cancer may be a risk factor for SPCs. Using the Swedish Family-Cancer Database on non-Hodgkin lymphoma (NHL), we assessed the influence of family history on risk of SPCs and of SPCs on survival. NHL patients were identified from the years 1958 to 2015 and generalized Poisson models wer

Function, information, and contributions : An evaluation of national multidisciplinary team meetings for rare cancers

National virtual multidisciplinary team meetings have been established in Swedish cancer care in response to centralized treatment of rare cancers. Though national meetings grant access to a large multidisciplinary network, we hypothesized that video-based meetings may challenge participants’ contributions to the case discussions. We investigated participants’ views and used observational tools to

Autoimmune diseases and hematological malignancies : exploring the underlying mechanisms from epidemiological evidence

Autoimmune diseases are characterized by the irregular functioning of the immune system that leads to the loss of tolerance to self-antigens. The underlying nature of autoimmune diseases has led to speculation that the risk of malignancy might be higher or lower in patients with such diseases. However, the rarity and heterogeneity of both autoimmune diseases and malignancies is the main challenge

Benefits, barriers and opinions on multidisciplinary team meetings : A survey in Swedish cancer care

Background: Case review and discussion at multidisciplinary team meetings (MDTMs) have evolved into standard practice in cancer care with the aim to provide evidence-based treatment recommendations. As a basis for work to optimize the MDTMs, we investigated participants' views on the meeting function, including perceived benefits and barriers. Methods: In a cross-sectional study design, 244 health

Predictive factors for sentinel node metastases in primary invasive breast cancer : A population-based cohort study of 2552 consecutive patients

Background: Axillary lymph node status is one of the most important prognostic factors for breast cancer. The aim of this study was to determine predictive factors for metastasis to sentinel node (SN) in primary invasive breast cancer. Method: This is a study of 3979 patients with primary breast cancer during 2008-2013 in Malmö and Lund scheduled for surgery and included in the information retriev

Browning of freshwaters : Consequences to ecosystem services, underlying drivers, and potential mitigation measures

Browning of surface waters, as a result of increasing dissolved organic carbon and iron concentrations, is a widespread phenomenon with implications to the structure and function of aquatic ecosystems. In this article, we provide an overview of the consequences of browning in relation to ecosystem services, outline what the underlying drivers and mechanisms of browning are, and specifically focus

Positive psychological well-being predicts lower severe pain in the general population : A 2-year follow-up study of the SwePain cohort

Background: Positive psychology indicators like well-being and life satisfaction may play a pivotal role in pain-related outcomes. In this study, we aimed to examine the prospective associations of positive well-being and life satisfaction with pain severity. Methods and Subjects: This longitudinal study, with a follow-up of 2 years, included 9361 participants (4266 males, 5095 females; mean age:

Heritability of glomerulonephritis : A Swedish adoption study

Background: Glomerulonephritis clusters in families. However, infections are common inducers of glomerulonephritis and may also cluster in families. Studies of adoptees and their biological and adoptive parents may disentangle genetic from environmental causes of familial clustering. This is the first adoption study aimed to estimate the genetic contribution to the familial transmission of glomeru