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Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia
(2014)
A 2-year-old female was presented with high levels of serum ferritin (890 ng/mL) in a routine blood test. Clinical and laboratory investigations excluded the presence of iron overload and secondary causes of hyperferritinemia. ...
Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: A systems biology based approach
(2010)
To identify novel genes and pathways associated with AMD, we performed microarray gene expression and linkage analysis which implicated the candidate gene, retinoic acid receptor-related orphan receptor alpha (RORA, 15q). ...
Autoimmune hepatitis type-2 and Epstein-Barr virus infection in a toddler: Art of facts or an artifact?
(2013)
Epstein-Barr virus (EBV) can cause frequently asymptomatic (or anicteric) and self-limited hepatitis, while occasionally may result in considerable cholestatic hepatitis. Herein, we describe the case of a previously healthy ...
Immunoglobulin D myeloma: Clinical features and outcome in the era of novel agents
(2014)
Objectives: Immunoglobulin D (IgD) multiple myeloma is an uncommon variant of the disease probably associated with poorer prognosis. However, data on IgD myeloma patients treated in the novel agent era are lacking. Methods: ...
The role of learning and customer orientation for delivering service quality to patients
(2010)
Purpose: This study seeks to investigate the impact that learning orientation, internal and external customer orientation have on quality of care delivered to patients. Additionally, given the differences between managerial ...
Examination of weight transfer strategies during the execution of grand battement devant at the barre, in the center, and traveling
(2012)
The purpose of this study was to examine grand battement devant at the barre, in the center, and traveling through space. The primary focus was to consider weight transfer in three conditions: from two feet to one foot for ...
A copper sulfate and hydroxylysine treatment regimen for enhancing collagen cross-linking and biomechanical properties in engineered neocartilage
(2013)
The objective of this study was to improve the biomechanical properties of engineered neotissues through promoting the development of collagen cross-links. It was hypothesized that supplementing medium with copper sulfate ...
Exhaled breath condensate in asthma: From bench to bedside
(2011)
The need for non-invasive assessment of airway inflammation is imperative, since inflammatory airway diseases, such as asthma and COPD, are characterized by variation in their clinical presentation throughout their course. ...
Smoking as a risk factor for autoimmune liver disease: What we can learn from primary biliary cirrhosis
(2012)
Primary biliary cirrhosis (PBC) is a cholestatic liver disease characterised by the immune-mediated destruction of biliary epithelial cells in small intrahepatic bile ducts. The disease is characterised by circulating ...
Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22
(2011)
Objectives: Osteoarthritis (OA) is the most prevalent form of arthritis and accounts for substantial morbidity and disability, particularly in older people. It is characterised by changes in joint structure, including ...