Medical Genetics Medical Journal Abstracts
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Therapy-related myeloid neoplasms with isolated del(20q): comparison with cases of de novo myelodysplastic syndrome with del(20q)
Cancer Genetics
Jan 2013
Therapy-related myeloid neoplasms with isolated del(20q): comparison with cases of de novo myelodysplastic syndrome with del(20q)
The isolated deletion of chromosome 20q [del(20q)] has been observed in both de novo and therapy-related cases of myelodysplastic syndrome (MDS). The clinicopathologic features of de novo MDS with isolated del(20q) are well characterized. However, relatively little is known about therapy-related myeloid neoplasms..Exogenous insulin requirements do not differ between youth and adults with cystic fibrosis related diabetes
Pediatric Diabetes
Jan 2013
Exogenous insulin requirements do not differ between youth and adults with cystic fibrosis related diabetes
Objective: To examine whether insulin requirements and diabetes control differ between adolescents and adults with cystic fibrosis related diabetes (CFRD). Methods: All CFRD patients on insulin therapy seen at the University of Minnesota outpatient clinic from 1 January 2011 to 1 June 2012 were identified. Hemoglobin..A novel four-color fluorescence in situ hybridization assay for the detection of TMPRSS2 and ERG rearrangements in prostate cancer
Cancer Genetics
Jan 2013
A novel four-color fluorescence in situ hybridization assay for the detection of TMPRSS2 and ERG rearrangements in prostate cancer
Since the identification of the TMPRSS2-ERG rearrangement as the most common fusion event in prostate cancer, various methods have been developed to detect this rearrangement and to study its prognostic significance. We report a novel four-color fluorescence in situ hybridization (FISH) assay that detects not only the..Impact of bronchiectasis and trapped air on quality of life and exacerbations in CF
European Respiratory Journal
Jan 2013
Impact of bronchiectasis and trapped air on quality of life and exacerbations in CF
Cystic fibrosis (CF) is primarily characterized by bronchiectasis and trapped air on chest computed tomography (CT). The Cystic Fibrosis Questionnaire-Revised Respiratory Symptoms scale (CFQ-R RSS) measures health-related quality of life. To validate bronchiectasis, trapped air and CFQ-R RSS as outcome measures, we..Itraconazole and inhaled fluticasone causing hypothalamic–pituitary–adrenal axis suppression in adults with cystic fibrosis
Journal of Cystic Fibrosis
Jan 2013
Itraconazole and inhaled fluticasone causing hypothalamic–pituitary–adrenal axis suppression in adults with cystic fibrosis
Background: Although there have been case reports of hypothalamic–pituitary–adrenal (HPA) axis suppression in patients with cystic fibrosis (CF) caused by the combination of oral itraconazole and inhaled fluticasone, to date no study has assessed the incidence of this potentially serious side effect. Methods: Synacthen..Cascade testing in families of carriers identified through newborn screening in Western Brittany (France)
Journal of Cystic Fibrosis
Jan 2013
Cascade testing in families of carriers identified through newborn screening in Western Brittany (France)
Background: Newborn screening (NBS) for cystic fibrosis (CF) can lead to the detection of healthy carriers. We report a unique assessment of family testing following the identification of carriers by NBS for over 20years, in an area where CF is frequent. Methods: We reviewed all of the carriers identified by NBS..Changing thresholds and incidence of antibiotic treatment of cystic fibrosis pulmonary exacerbations, 1995–2005
Journal of Cystic Fibrosis
Jan 2013
Changing thresholds and incidence of antibiotic treatment of cystic fibrosis pulmonary exacerbations, 1995–2005
Background: Increased chronic therapy use and improved cystic fibrosis (CF) patient health should be accompanied by reduced pulmonary exacerbation-associated antibiotic treatment incidence. Methods: Treatment incidence rates and associated sign/symptom scores from 1995–2005 were studied in Epidemiologic Study of CF..Development and validation of a cystic fibrosis genetic knowledge questionnaire within the general population of the United States
Journal of Cystic Fibrosis
Jan 2013
Development and validation of a cystic fibrosis genetic knowledge questionnaire within the general population of the United States
Background: There is no valid and reliable instrument to evaluate genetic education and counseling received by parents who have an infant with a positive newborn screen for cystic fibrosis (CF). Methods: This study assessed the validity and reliability of a new instrument designed to evaluate the effectiveness of..Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations
Journal of Cystic Fibrosis
Jan 2013
Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations
Background: This two decade long study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 600 Czech CF patients derived from all regions of the Czech Republic. Methods: We examined the most common CF-causing mutations using the Elucigene CF-EU2v1™ assay, followed by MLPA,..Impaired Cognitive Function and Reduced Anxiety-Related Behavior in a Promyelocytic Leukemia (PML) Tumor Suppressor Protein-Deficient Mouse
Genes, Brain and Behavior
Dec 2012
Impaired Cognitive Function and Reduced Anxiety-Related Behavior in a Promyelocytic Leukemia (PML) Tumor Suppressor Protein-Deficient Mouse
The promyelocytic leukemia protein (PML) is a tumor suppressor factor mostly known by its involvement in acute promyelocytic leukemia (APL). Interestingly, recent studies have provided evidence that, in the central nervous system, PML is involved in neurogenesis. However, prospective studies of PML in brain are..Improving cellular uptake and in-vivo tumor suppression efficacy of liposomal oligonucleotides by urea as a chemical penetration enhancer
The Journal of Gene Medicine
Dec 2012
Improving cellular uptake and in-vivo tumor suppression efficacy of liposomal oligonucleotides by urea as a chemical penetration enhancer
Background: Liposomes are among the most widely used carriers for delivery of antisense oligonucleotides (AsODNs) to intracellular targets. Although different strategies have been employed, the question of how to improve liposomal uptake and enhance the release of AsODN into cytoplasm is still remained to be completely..Genetic ancestry and its association with asthma exacerbations among African American subjects with asthma
Journal of Allergy and Clinical Immunology
Oct 2012
Genetic ancestry and its association with asthma exacerbations among African American subjects with asthma
Background: There are large and persisting disparities in severe asthma exacerbations by race-ethnicity, and African American subjects are among those at greatest risk. It is unclear whether this increased risk solely represents differences in environmental exposures and health care or whether there is a predisposing..Associations and interactions of genetic polymorphisms in innate immunity genes with early viral infections and susceptibility to asthma and asthma-related phenotypes
Journal of Allergy and Clinical Immunology
Oct 2012
Associations and interactions of genetic polymorphisms in innate immunity genes with early viral infections and susceptibility to asthma and asthma-related phenotypes
Background: The innate immune system is essential for host survival because of its ability to recognize invading pathogens and mount defensive responses. Objectives: We sought to identify genetic associations of innate immunity genes with atopy and asthma and interactions with early viral infections (first 12 months of..Mutational spectrum and geno-phenotype correlation in Chinese families with Hereditary Angioedema
Allergy
Sep 2012
Mutational spectrum and geno-phenotype correlation in Chinese families with Hereditary Angioedema
Background: Hereditary angioedema is a rare autosomal dominant disease, and its correlation between genotype and phenotype seems not to exist. So far, there are very few studies on Chinese population. We aimed to establish a Chinese genetic database of hereditary angioedema and investigated the potential correlation..Intracolonically administered adeno-associated virus-bone morphogenetic protein-7 ameliorates dextran sulphate sodium-induced acute colitis in rats
The Journal of Gene Medicine
Jul 2012
Intracolonically administered adeno-associated virus-bone morphogenetic protein-7 ameliorates dextran sulphate sodium-induced acute colitis in rats
Background: The current treatment of ulcerative colitis (UC) is less than ideal and has room for improvement. Bone morphogenetic protein-7 (BMP-7) exerts a protective effect on experimental UC. Hence, we considered that intracolonically (i.c.) administered adeno-associated virus (AAV) delivering BMP-7 might have..Adenovirus vector-based in vitro neuronal cell model for Huntington's disease with human disease-like differential aggregation and degeneration
The Journal of Gene Medicine
Jun 2012
Adenovirus vector-based in vitro neuronal cell model for Huntington's disease with human disease-like differential aggregation and degeneration
Background: Neuronal degeneration, in particular in the striatum, and the formation of nuclear and cytoplasmic inclusions are characteristics of Huntington's disease (HD) as a result of the expansion of a polyglutamine tract located close to the N-terminus of huntingtin (htt). Because of the large (10-kb) size of the..COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke
The American Society of Human Genetics
Dec 2011
COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke
Collagen, type IV, alpha 1 (COL4A1) and alpha 2 (COL4A2) form heterotrimers and are abundant components of basement membranes, including those of the cerebral vasculature. COL4A1 mutations are an increasingly recognized cause of multisystem disorders, including highly penetrant cerebrovascular disease and intracerebral..Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder
The American Society of Human Genetics
Dec 2011
Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder
The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important roles in synapse development and function. In autism spectrum disorder (ASD), as well as in other neurodevelopmental conditions, rare exonic..Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1
The American Journal of Human Genetics
Nov 2011
Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1
Abdominal aortic aneurysm (AAA) is a common cause of morbidity and mortality and has a significant heritability. We carried out a genome-wide association discovery study of 1866 patients with AAA and 5435 controls and replication of promising signals (lead SNP with a p value < 1 × 10−5) in 2871 additional cases and..Effects of the calcium-sensing receptor A986S polymorphism on serum calcium and parathyroid hormone levels in healthy individuals: A meta-analysis
Gene
Nov 2011
Effects of the calcium-sensing receptor A986S polymorphism on serum calcium and parathyroid hormone levels in healthy individuals: A meta-analysis
The calcium-sensing receptor (CaSR) is involved in maintaining calcium homeostasis via the regulation of parathyroid hormone (PTH) secretion. The associations between serum calcium concentrations, parathyroid hormone (PTH) level and CaSR polymorphism A986S have been studied, but results are inconsistent. Therefore, we..SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis
Gene
Nov 2011
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis
The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and Léri–Weill dyschondrosteosis (LWD), all derived from the Czech population. Overall, 98 subjects were analyzed in the study. Inclusion criteria were the presence of..FOXL2 mutation and large-scale genomic imbalances in adult granulosa cell tumors of the ovary
Cancer Genetics
Oct 2011
FOXL2 mutation and large-scale genomic imbalances in adult granulosa cell tumors of the ovary
Adult granulosa cell tumors (AGCTs) are a rare class of ovarian tumors with recurrent cytogenetic abnormalities including trisomy 12, trisomy 14, monosomy 16/deletion 16q, and monosomy 22. Over 90% contain a missense point mutation (C134W) in the FOXL2 gene at 3q22.3. The relationship between FOXL2 mutation and..Genetic mechanisms in aspirin-exacerbated respiratory disease
Journal of Allergy
Aug 2011
Genetic mechanisms in aspirin-exacerbated respiratory disease
Aspirin-exacerbated respiratory disease (AERD) refers to the development of bronchoconstriction in asthmatics following the exposure to aspirin or other nonsteroidal anti-inflammatory drugs. The key pathogenic mechanisms associated with AERD are the overproduction of cysteinyl leukotrienes (CysLTs) and increased..Azacitidine induces demethylation of p16INK4a and inhibits growth in adult T-cell leukemia/lymphoma
International Journal of Molecular Medicine
Jul 2011
Azacitidine induces demethylation of p16INK4a and inhibits growth in adult T-cell leukemia/lymphoma
Adult T-cell leukemia/lymphoma (ATL) is one of the peripheral T-cell malignant neoplasms strongly associated with human T-cell leukemia virus type-I (HTLV-I). Although the viral transactivator protein Tax has been proposed to play a critical role in leukemogeneis, additional cellular events are required for the..Genome-wide combination profiling of DNA copy number and methylation for deciphering biomarkers in non-small cell lung cancer patients
Cancer Letters
Jun 2011
Genome-wide combination profiling of DNA copy number and methylation for deciphering biomarkers in non-small cell lung cancer patients
Early detection of lung cancer provides the highest potential for saving lives. To date, no routine screening method enabling early detection is available, which is a key factor in the disease's high mortality rate. Copy number changes and DNA methylation alterations are good indicators of carcinogenesis and cancer..
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