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https://www.readbyqxmd.com/read/29334678/genome-evolution-analysis-of-recurrent-testicular-malignant-mesothelioma-by-whole-genome-sequencing
#1
Shigeng Zhang, Qi Zhang, Qing Sun, Jinlong Tang, Jimin Chen, Na Ji, Yichun Zheng, Francia Fang, Wanjun Lei, Pengpeng Li, Nan Zhang
BACKGROUND/AIMS: Malignant mesothelioma of the tunica vaginalis testis is a rare and lethal disease. The genomic characteristics and genetic changes of tumor cells during the progression of this disease are unknown. METHODS: we performed whole-genome sequencing of four successive tumor samples derived from surgery and a blood sample in a single patient. RESULTS: All tumors were found to have significant C-to-T and T-to-C mutations, and amplification of copy number in chromosomes 1 and 12 were notified in all tumor samples...
January 15, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29334503/family-history-of-autoimmune-diseases-and-risk-of-gastric-cancer-a-national-cohort-study
#2
Jianguang Ji, Jan Sundquist, Kristina Sundquist
A personal history of autoimmune diseases is associated with an increased incidence of gastric cancer, but whether they share familial susceptibility is still unknown. The contribution of shared environmental or genetic factors toward the observed familial aggregation has not been determined. We used a few Swedish registers, including the Swedish Multigeneration Register and the Cancer Register, to examine the familial risk of gastric cancer among individuals with a family history of a set of autoimmune diseases...
January 12, 2018: European Journal of Cancer Prevention
https://www.readbyqxmd.com/read/29334143/childhood-alopecia-areata-data-from-the-national-alopecia-areata-registry
#3
Iris Wohlmuth-Wieser, Joyce S Osei, David Norris, Vera Price, Maria K Hordinsky, Angela Christiano, Madeleine Duvic
BACKGROUND/OBJECTIVES: Alopecia areata may occur at any age and is the third-most-common dermatosis in children. The objective of this study was to investigate the clinical and epidemiologic features of children and adolescents with alopecia areata based on the data of the National Alopecia Areata registry on children and adolescents. METHODS: Two thousand two hundred eighteen children and adolescents with alopecia areata self-enrolled in the National Alopecia Areata Registry and completed a web-based, self-administered, short-intake screening questionnaire (first tier)...
January 15, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29333833/-infrequent-mutation-in-renal-coloboma-syndrome-case-report-and-review
#4
Ignacio Ruiz Del Olmo Izuzquiza, Yolanda Romero Salas, Ana Rodríguez Valle, Inmaculada González Viejo, María L Justa Roldán
Renal-coloboma syndrome is an autosomal dominant disease characterized by renal hypodysplasia and coloboma. A case of a 12-year-old girl with chronic kidney disease, bilateral optic nerve colobomas and an exceptional PAX-2 gene mutation is presented. Diagnosed in prenatal scans with bilateral renal hypoplasia, she presented clinical and laboratory findings of chronic kidney disease at 5 days of life. Following tests showed grade II bilateral vesicoureteral reflux spontaneously solved, maintained non nephrotic proteinuria controlled with enalapril and bilateral colobomas with left macular atrophy...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333811/neonatal-mortality-and-associated-factors-in-newborn-infants-admitted-to-a-neonatal-care-unit
#5
Juan C Lona Reyes, René O Pérez Ramírez, Leonardo Llamas Ramos, Larissa M Gómez Ruiz, Edith A Benítez Vázquez, Virginia Rodríguez Patino
INTRODUCTION: The increasing survival rate of preterm infants has altered the epidemiology of neonatal diseases; however, neonatal mortality is still the main component of child mortality. The objective of this study was to evaluate neonatal mortality and associated factors in newborn infants admitted to a neonatal care unit. MATERIAL AND METHODS: Prospective cohort study conducted between January 2016 and January 2017 at Hospital Civil de Guadalajara "Dr. Juan I...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333691/the-innate-immune-system-in-chronic-cardiomyopathy-a-european-society-of-cardiology-esc-scientific-statement-from-the-working-group-on-myocardial-function-of-the-esc
#6
REVIEW
Stefan Frantz, Ines Falcao-Pires, Jean-Luc Balligand, Johann Bauersachs, Dirk Brutsaert, Michele Ciccarelli, Dana Dawson, Leon J de Windt, Mauro Giacca, Nazha Hamdani, Denise Hilfiker-Kleiner, Emilio Hirsch, Adelino Leite-Moreira, Manuel Mayr, Thomas Thum, Carlo G Tocchetti, Jolanda van der Velden, Gilda Varricchi, Stephane Heymans
Activation of the immune system in heart failure (HF) has been recognized for over 20 years. Initially, experimental studies demonstrated a maladaptive role of the immune system. However, several phase III trials failed to show beneficial effects in HF with therapies directed against an immune activation. Preclinical studies today describe positive and negative effects of immune activation in HF. These different effects depend on timing and aetiology of HF. Therefore, herein we give a detailed review on immune mechanisms and their importance for the development of HF with a special focus on commonalities and differences between different forms of cardiomyopathies...
January 15, 2018: European Journal of Heart Failure
https://www.readbyqxmd.com/read/29333670/pustular-psoriasis-and-related-pustular-skin-diseases
#7
REVIEW
H Bachelez
Patients with pustular psoriasis or related pustular diseases may have genetic abnormalities impairing the function of key players of the innate skin immune system. Recently, identification of these abnormalities has changed the paradigm of several of these diseases. These include generalized pustular psoriasis, palmoplantar pustular psoriasis and acrodermatitis continua of Hallopeau, and also drug-induced acute exanthematous generalized pustular eruption. Identified mutations in IL36RN, CARD14 and AP1S3 in different groups of patients lead to enhanced inflammatory cascade in several cellular subtypes including keratinocytes, and to the recruitment and activation of neutrophils and macrophages...
January 15, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29333607/arabidopsis-mlo2-is-a-negative-regulator-of-sensitivity-to-extracellular-ros
#8
Fuqiang Cui, Hongpo Wu, Omid Safronov, Panpan Zhang, Rajeev Kumar, Hannes Kollist, Jarkko Salojärvi, Ralph Panstruga, Kirk Overmyer
The atmospheric pollutant ozone (O3 ) is a strong oxidant that causes extracellular reactive oxygen species (ROS) formation, has significant ecological relevance, and is used here as a non-invasive ROS inducer to study plant signalling. Previous genetic screens identified several mutants exhibiting enhanced O3- sensitivity, but few with enhanced tolerance. We found that loss-of-function mutants in Arabidopsis MLO2, a gene implicated in susceptibility to powdery mildew disease, exhibit enhanced dose-dependent tolerance to O3 and extracellular ROS, but a normal response to intracellular ROS...
January 15, 2018: Plant, Cell & Environment
https://www.readbyqxmd.com/read/29333270/lessons-from-ten-years-of-genome-wide-association-studies-of-asthma
#9
REVIEW
Cristina T Vicente, Joana A Revez, Manuel A R Ferreira
Twenty-five genome-wide association studies (GWAS) of asthma were published between 2007 and 2016, the largest with a sample size of 157242 individuals. Across these studies, 39 genetic variants in low linkage disequilibrium (LD) with each other were reported to associate with disease risk at a significance threshold of P<5 × 10-8, including 31 in populations of European ancestry. Results from analyses of the UK Biobank data (n=380 503) indicate that at least 28 of the 31 associations reported in Europeans represent true-positive findings, collectively explaining 2...
December 2017: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/29333268/progress-of-genome-wide-association-studies-of-ankylosing-spondylitis
#10
REVIEW
Zhixiu Li, Matthew A Brown
Ankylosing spondylitis (AS) is an immune-mediated arthritis which primarily affects the spine and sacroiliac joints. Significant progress has been made in discovery of genetic associations with AS by genome-wide association studies (GWAS) over past decade. These findings have uncovered novel pathways involved pathogenesis of the disease and have led to introduction of novel therapeutic treatments for AS. In this Review, we discuss the genetic variations associated with AS identified by GWAS, the major pathways revealed by these AS-associated variations and critical cell types involved in AS development...
December 2017: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/29333267/type-1-diabetes-genome-wide-association-studies-not-to-be-lost-in-translation
#11
REVIEW
Flemming Pociot
Genetic studies have identified >60 loci associated with the risk of developing type 1 diabetes (T1D). The vast majority of these are identified by genome-wide association studies (GWAS) using large case-control cohorts of European ancestry. More than 80% of the heritability of T1D can be explained by GWAS data in this population group. However, with few exceptions, their individual contribution to T1D risk is low and understanding their function in disease biology remains a huge challenge. GWAS on its own does not inform us in detail on disease mechanisms, but the combination of GWAS data with other omics-data is beginning to advance our understanding of T1D etiology and pathogenesis...
December 2017: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/29333101/variations-in-the-aurka-gene-biomarkers-for-the-development-and-progression-of-hepatocellular-carcinoma
#12
Bin Wang, Chin-Jung Hsu, Chia-Hsuan Chou, Hsiang-Lin Lee, Whei-Ling Chiang, Chen-Ming Su, Hsiao-Chi Tsai, Shun-Fa Yang, Chih-Hsin Tang
Hepatocellular carcinoma (HCC) is a liver malignancy and a major cause of cancer mortality worldwide. AURKA (aurora kinase A) is a mitotic serine/threonine kinase that functions as an oncogene and plays a critical role in hepatocarcinogenesis. We report on the association between 4 single nucleotide polymorphisms (SNPs) of the AURKA gene (rs1047972, rs2273535, rs2064836, and rs6024836) and HCC susceptibility as well as clinical outcomes in 312 patients with HCC and in 624 cancer-free controls. We found that carriers of the TT allele of the variant rs1047972 were at greater risk of HCC compared with wild-type (CC) carriers...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29333086/ethical-and-safety-issues-of-stem-cell-based-therapy
#13
REVIEW
Vladislav Volarevic, Bojana Simovic Markovic, Marina Gazdic, Ana Volarevic, Nemanja Jovicic, Nebojsa Arsenijevic, Lyle Armstrong, Valentin Djonov, Majlinda Lako, Miodrag Stojkovic
Results obtained from completed and on-going clinical studies indicate huge therapeutic potential of stem cell-based therapy in the treatment of degenerative, autoimmune and genetic disorders. However, clinical application of stem cells raises numerous ethical and safety concerns. In this review, we provide an overview of the most important ethical issues in stem cell therapy, as a contribution to the controversial debate about their clinical usage in regenerative and transplantation medicine. We describe ethical challenges regarding human embryonic stem cell (hESC) research, emphasizing that ethical dilemma involving the destruction of a human embryo is a major factor that may have limited the development of hESC-based clinical therapies...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29333063/familial-and-ethnic-risk-in-inflammatory-bowel-disease
#14
REVIEW
Maria Pia Costa Santos, Catarina Gomes, Joana Torres
Familial aggregation in inflammatory bowel disease (IBD) has been established for several decades, reflecting shared genetic and environmental susceptibility. A positive family history remains the strongest recognizable risk factor for the development of IBD and is reported in around 8-12% of IBD patients. Crohn's disease shows a more frequent familial pattern than ulcerative colitis. The risk of developing IBD in first-degree relatives of an affected proband is increased 4- to 8-fold. The risk for twins and children born from couples who both have IBD is also substantially higher; a cumulative effect of the number of family members affected has been described, with the highest incidence being described for families with three or more affected members...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29332572/lipoprotein-associated-phospholipase-a2-and-coronary-heart-disease
#15
Areti Sofogianni, Stelina Alkagiet, Konstantinos Tziomalos
In the last decades, the role of inflammation in the pathogenesis of atherosclerosis has been the topic of intense research. Several markers of inflammation have shown predictive value for first and recurrent coronary events in patients without and with established coronary heart disease (CHD). Among these markers, lipoprotein-associated phospholipase A2 (Lp-PLA2) has recently received considerable attention. In the present review, the potential role of Lp-PLA2 as a marker of CHD risk and as a therapeutic target is discussed...
January 10, 2018: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29332568/fgf-21-as-a-potential-biomarker-for-mitochondrial-diseases
#16
Leila Motlagh Scholle, Diana Lehmann, Marcus Deschauer, Torsten Kraya, Stephan Zierz
The diagnosis of mitochondrial diseases is still challenging due to clinical and genetical heterogeneity. The development of advanced technologies including Whole-Exome-Sequencing (WES) and Whole-Genome-Sequencing (WGS) have led to improvements in genetic diagnosis. However, a reliable biomarker in serum could enhance and ease the diagnosis and indeed reduce the need for muscle biopsy. Several studies suggest Fibroblast growth factor 21 (FGF-21) as a biomarker for diagnosis in mitochondrial disorders. It is known, that in patients with mitochondrial disorders, the expression of FGF-21 gets elevated in an effort to counteract the underlying metabolic deficiency...
January 10, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29332336/downregulation-of-guanine-nucleotide-binding-protein-beta-1-gnb1-is-associated-with-worsened-prognosis-of-clearcell-renal-cell-carcinoma-and-is-related-to-vegf-signaling-pathway
#17
C Chen, H Chi, L Min, Z Junhua
PURPOSE: Clear-cell renal cell carcinoma (ccRCC) is characterized by genetic abnormalities, while the role of Guanine Nucleotide-Binding Protein Beta 1 (GNB1) in ccRCC has not been studied. We thus aimed to evaluate the expression and prognostic value of GNB1 in ccRCC. METHODS: A two-stage study (exploration and validation) was conducted using in silico and immunohistochemical (IHC) scoring of ccRCC samples from our institute, to evaluate the association between GNB1 expression and clinicopathological parameters of ccRCC patients...
November 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/29332331/egfr-mutations-and-tumor-metastases-in-patients-with-nonsmall-cell-lung-cancer-in-the-south-of-russia
#18
Oleg I Kit, Dmitry I Vodolazhsky, Natalia N Timoshkina, Lubov' Yu Vladimirova, Igor N Turkin, Ksenia A Kutsyn, Yaroslav S Enin, Svetlana B Panina, Vladimir Jurisic
PURPOSE: To assess the frequencies of somatic EGFR mutations in the tumor tissues of patients with non-small cell lung cancer (NSCLC) residing in the South of Russia (SR), and to define the relationship between genetic subtypes of NSCLC and the emergence of different types of metastases. METHODS: DNA was extracted from formalin-fixed parrafin embedded (FFPE) samples of 721 patients. A total of 29 somatic EGFR mutations were detected using commercial Therascreen EGFR RGQ PCR Kit...
November 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/29332214/targeted-next-generation-sequencing-in-patients-with-non-syndromic-congenital-heart-disease
#19
Silvia Pulignani, Cecilia Vecoli, Andrea Borghini, Ilenia Foffa, Lamia Ait-Alì, Maria Grazia Andreassi
Congenital heart disease (CHD) is a genetically heterogeneous disease. Targeted next-generation sequencing (NGS) offers a unique opportunity to sequence multiple genes at lower cost and effort compared to Sanger sequencing. We tested a targeted NGS of a specific gene panel in a relatively large population of non-syndromic CHD patients. The patient cohort comprised 68 CHD patients (45 males; 8.3 ± 1.7 years). Amplicon libraries for 16 CHD-strictly related genes were generated using a TruSeq® Custom Amplicon kit (Illumina, CA) and sequenced using the Illumina MiSeq platform...
January 13, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29332197/identification-as-a-mutation-carrier-and-effects-on-life-according-to-experiences-of-finnish-male-brca1-2-mutation-carriers
#20
Outi Kajula, Outi Kuismin, Helvi Kyngäs
Earlier studies have explored post-identification experiences of male BRCA1/2 mutation carriers, but more detailed knowledge of both their experiences and effects of identification as a carrier on their lives is required to improve genetic counseling. Thus, the aim of this study was to acquire deeper and broader insights into their experiences. Qualitative data were collected from theme-based interviews with 31 men carrying BRCA1/2 mutations in Finland, and analyzed using inductive content analysis. Three categories of the participants' responses to identification as BRCA1/2 mutation carriers were identified (personal, offspring-related and related to other relatives), mainly concerning issues associated with cancer, hereditary transmission of their mutations, and life decisions...
January 13, 2018: Journal of Genetic Counseling
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