Browsing Clinical Medicine (Scholarly Publications) by Title
Now showing items 235-254 of 648
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Gastrointestinal manifestations in a patient with common variable immunodeficiency syndrome.
(2019)A 57 yo male with a background history of common variable Immunodeficiency syndrome (CVID) on Immunoglobulin Infusion (Kiovig) 40mg three weekly was referred for investigation of diarrhoea and follow up from previous history ... -
Gene-nutrient interactions and gender may modulate the association between ApoA1 and ApoB gene polymorphisms and metabolic syndrome risk
(2011)Objective: Dyslipidemia is a key feature of the metabolic syndrome (MetS), which is determined by both genetic and dietary factors. Methods: We determined relationships between ApoA1 and ApoB polymorphisms and MetS risk, ... -
Generation and Characterisation of Cisplatin-Resistant Non-Small Cell Lung Cancer Cell Lines Displaying a Stem-Like Signature
(2013)NTRODUCTION: Inherent and acquired cisplatin resistance reduces the effectiveness of this agent in the management of non-small cell lung cancer (NSCLC). Understanding the molecular mechanisms underlying this process may ... -
Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults
(The American Society of Hematology, 2003)A modestly elevated total plasma homocysteine concentration (tHcy) is generally accepted as an independent and graded risk factor for various pathologies, including vascular diseases, neural tube defects, Alzheimer disease, ... -
Genetic effects influencing risk for major depressive disorder in China and Europe
(2017)Major depressive disorder (MDD) is a common, complex psychiatric disorder and a leading cause of disability worldwide. Despite twin studies indicating its modest heritability (~30–40%), extensive heterogeneity and a complex ... -
Genetic Polymorphisms and the Risk of Infection Following Esophagectomy
(Lippincott Williams & Wilkins, 2007)OBJECTIVE: To examine the association of single nucleotide polymorphisms (SNPs) in inflammation-related genes in the development of infections following esophagectomy. SUMMARY BACKGROUND DATA: Genetic polymorphisms for ... -
Genetic screening in sporadic ALS and FTD
(2017)The increasing complexity of the genetic landscape in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) presents a significant resource and physician training challenge. At least 10% of those diagnosed ... -
Genetic testing in ALS: A survey of current practices
(2017)Objective: To determine the degree of consensus among clinicians on the clinical use of genetic testing in amyotrophic lateral sclerosis (ALS) and the factors that determine decision-making. Methods: ALS researchers ... -
Genome stability pathways in head and neck cancers.
(2013)Genomic instability underlies the transformation of host cells toward malignancy, promotes development of invasion and metastasis and shapes the response of established cancer to treatment. In this review, we discuss recent ... -
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
(Elsevier, 2018)To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant ... -
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21
(2007)We tested 310,605 single-nucleotide polymorphisms for association in 778 celiac disease cases and 1422 controls. Outside the HLA, the most significant finding (rs13119723, P=2.0 ? 10?7, empirical genome-wide significance ... -
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
(2013)Atopic dermatitis (AD) is the most common dermatological disease of childhood. Many children with AD have asthma and AD shares regions of genetic linkage with psoriasis, another chronic inflammatory skin disease. We present ... -
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
(2010)Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant ... -
Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status
(2019)Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disease of unknown cause. 30% of patients have anti-neutrophil cytoplasmic antibodies (ANCA) specific for myeloperoxidase (MPO). Here, we describe ... -
Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
(2015)Atopic dermatitis and psoriasis are the two most common immune-mediated inflammatory disorders affecting the skin. Genome-wide studies demonstrate a high degree of genetic overlap, but these diseases have mutually exclusive ... -
Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland.
(2012)Background: Polymorphisms within the MTHFD1L gene were previously associated with risk of neural tube defects in Ireland. We sought to test the most significant MTHFD1L polymorphisms for an association with risk of ... -
The geographic diversity of nontuberculous mycobacteria isolated from pulmonary samples: A NTM-NET collaborative study.
(2013)A significant knowledge gap exists concerning the geographical distribution of nontuberculous mycobacteria (NTM) isolation worldwide. To provide a snapshot of NTM species distribution, global partners in the NTM-Network ... -
Global burden of motor neuron diseases: mind the gaps
(2018)According to the International Classification of Diseases ninth (ICD-9) and tenth (ICD-10) editions, the category of motor neuron diseases comprises amyotrophic lateral sclerosis, progressive muscular atrophy, primary ...
