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Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb del...
Abstract Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder. A significant portion of OCA patients has been found with a single pathogenic variant... -
Association of lipocalin-2 level, glycemic status and obesity in type 2 diabe...
Abstract Background Management of type 2 diabetes mellitus aims to maintain a normal glycemic status, which if not, it may lead to acute and/or chronic diabetic complications.... -
Reduction in clinically important deterioration in chronic obstructive pulmon...
Abstract Background ‘Clinically important deterioration’ (CID) is a composite endpoint measuring worsening of the key clinical features of chronic obstructive pulmonary disease... -
A novel method for the quantification of fatty infiltration in skeletal muscle
Abstract Background Fatty infiltration of the skeletal muscle is a common but poorly understood feature of many myopathies. It is best described in human muscle, where... -
Not only dominant, not only optic atrophy: expanding the clinical spectrum as...
Abstract Background Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases... -
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé ...
Abstract Background Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and... -
The most commonly used disease severity scores are inappropriate for risk str...
Abstract Background Sepsis recognition in older emergency department (ED) patients is difficult due to atypical symptom presentation. We therefore investigated whether the... -
Prophages and adaptation of Staphylococcus aureus ST398 to the human clinic
Abstract Background It has been suggested that prophages in the ST398 S. aureus clone are responsible for expanding ST398's spectrum of action and increasing its ability to... -
A novel nonsense mutation in the tyrosinase gene is related to the albinism i...
Abstract Background Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The OCA phenotype may be... -
Impaired human immunodeficiency virus type 1 replicative fitness in atypical ...
Abstract Background Progression rates from initial HIV-1 infection to advanced AIDS vary significantly among infected individuals. A distinct subgroup of HIV-1-infected... -
Identification and validation of a Schistosoma japonicum U6 promoter
Abstract Background RNA polymerase III promoters have been widely used to express short hairpin-RNA (shRNA), microRNA (miRNA), and small guide RNA (sgRNA) in gene functional... -
A fixed inhaled nitrous oxide/oxygen mixture as an analgesic for adult cancer...
Abstract Background The management of breakthrough pain in cancer patients is always a challenge for medical professions. Occurring in 80% of cancer patients with advanced... -
Low serum vitamin D levels in type 2 diabetes patients are associated with de...
Abstract Background Concurrent diabetes mellitus and tuberculosis represent a significant health problem worldwide. Patients with diabetes mellitus have a high risk of... -
Genetic evaluation of the effect of GLCCI1 rs37973 on corticosteroid response...
Abstract Background The efficacy of inhaled corticosteroids (ICS) for chronic obstructive pulmonary disease (COPD) varies between patients, which may be partially due to genetic... -
Control of endemic swine flu persistence in farrow-to-finish pig farms: a sto...
Abstract Swine influenza viruses (swIAVs) are known to persist endemically in farrow-to-finish pig farms, leading to repeated swine flu outbreaks in successive batches of pigs... -
Sex-specific association between fibroblast growth factor 21 and type 2 diabe...
Abstract Background Fibroblast growth factor 21 (FGF-21) is mainly secreted by liver and has been reported to be involved in the pathogenesis of type 2 diabetes. Some... -
DNA methylation profiling in peripheral lung tissues of smokers and patients ...
Abstract Background Epigenetics changes have been shown to be affected by cigarette smoking. Cigarette smoke (CS)-mediated DNA methylation can potentially affect several... -
Comparing microbiotas in the upper aerodigestive and lower respiratory tracts...
Abstract Background Recently, the importance of the lung microbiota during health and disease has been examined in humans and in small animal models. Whilst sheep have been... -
Impact of somatic PI3K pathway and ERBB family mutations on pathological comp...
Abstract Background The Cancer Genome Atlas analysis revealed that somatic EGFR, receptor tyrosine-protein kinase erbB-2 (ERBB2), Erb-B2 receptor tyrosine kinase 3 (ERBB3) and... -
Prevalence and pattern of antibiotic resistance of Staphylococcus aureus isol...
Abstract Background Studies have implicated Staphylococcus aureus as the leading cause of septicemia in the Tamale metropolis of Ghana. The aim of this study was to determine...
