Is a Vitamin K Epoxide Reductase Complex Subunit 1 () Polymorphism a Risk Factor for Nephrolithiasis in Sarcoidosis?

Sarcoidosis is a systemic inflammatory disorder characterized by granuloma formation in various organs. It has been associated with nephrolithiasis. The vitamin K epoxide reductase complex subunit 1 () gene, which plays a crucial role in vitamin K metabolism, has been implicated in the activation of proteins associated with calcification, including in the forming of nephrolithiasis.

Drug-Gene Risk Stratification in Patients with Suspected Drug-Induced Interstitial Lung Disease.

Background: Pulmonary toxicity has been associated with drug use. This is often not recognized in clinical practice, and underestimated.

Objective: We aimed to establish whether polymorphisms in certain genes corresponding with a metabolic pathway of drug(s) used are associated with pulmonary toxicity in patients with suspected drug-induced interstitial lung disease (DI-ILD).

Drug-induced comorbidities in patients with sarcoidosis.

Purpose Of Review: Sarcoidosis is a chronic multisystemic inflammatory disease of unknown aetiology with a wide range of highly variable clinical manifestations and unpredictable disease course. Sarcoidosis patients may present with specific organ-related symptoms involving functional impairments, and less specific symptoms. The decision whether and when to treat a sarcoidosis patient with pharmacotherapy depends on two major factors: risk of organ failure and/or death and impairment of quality of life.

Role of Drug-Gene Interactions and Pharmacogenetics in Simvastatin-Associated Pulmonary Toxicity.

Introduction: Simvastatin has previously been associated with drug-induced interstitial lung disease. In this retrospective observational study, cases with non-specific interstitial pneumonia (NSIP) or idiopathic pulmonary fibrosis (IPF) with simvastatin-associated pulmonary toxicity (n = 34) were evaluated.

Objective: To identify whether variations in genes encoding cytochrome P450 (CYP) enzymes or in the SLCO1B1 gene (Solute Carrier Organic anion transporting polypeptide 1B1 gene, encoding the organic anion transporting polypeptide 1B1 [OATP1B1] drug transporter enzyme), and/or characteristics of concomitantly used drugs, predispose patients to simvastatin-associated pulmonary toxicity.

Differential Impact of Cytochrome 2C19 Allelic Variants on Three Different Platelet Function Tests in Clopidogrel-Treated Patients.

Unlabelled: On-treatment platelet reactivity in clopidogrel-treated patients can be measured with several platelet function tests (PFTs). However, the agreement between different PFTs is only slight to moderate. Polymorphisms of the gene have an impact on the metabolization of clopidogrel and, thereby, have an impact on on-treatment platelet reactivity.

Tamsulosin Associated with Interstitial Lung Damage in CYP2D6 Variant Alleles Carriers.

Drugs are serious but underestimated causative agents of interstitial lung disease (ILD). Both cytotoxic and immune mechanisms may be involved in drug-induced ILD (DI-ILD). We aimed to investigate whether polymorphisms of relevant CYP enzymes involved in the metabolization of tamsulosin might explain the pathologic mechanism of the DI-ILD in the cases with suspected tamsulosin DI-ILD.

and Polymorphisms: A Case Report in a Dutch Family with Pulmonary Fibrosis.

Here, we describe a Dutch family with idiopathic pulmonary fibrosis (IPF). We hypothesized that there might be an association between the presence of Vitamin K epoxide reductase complex 1 () and/or cytochrome P450 variant alleles and the early onset of IPF in the members of this family. (rs9923231 and rs9934438) and (rs1799853 and rs1057910) were genotyped in this family, which includes a significant number of pulmonary fibrosis patients.

Everyday cognitive failure in patients suffering from neurosarcoidosis.

Background: Cognitive failure is associated with memory and concentration problems. Previously, a prevalence of one third was found in a general sarcoidosis population. The aim of this study was to assess if neurosarcoidosis patients are at higher risk for developing everyday cognitive failure using the Cognitive Failure Questionnaire (CFQ) and to determine what factors were associated with cognitive failure.

Increased circulating desmosine and age-dependent elastinolysis in idiopathic pulmonary fibrosis.

Although chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF) seem to be opposite entities from a clinical perspective, common initial pathogenic steps have been suggested in both lung diseases. Emphysema is caused by an elastase/anti-elastase imbalance leading to accelerated elastin degradation. Elastinolysis is however, also accelerated in the IPF patients' lungs.

Pharmacogenetic variants and vitamin K deficiency: a risk factor or trigger for fibrosing interstitial pneumonias?

Purpose Of Review: Fibrosing interstitial pneumonias are associated with various stages of fibrosis. The cause of this group of syndromes remains largely unknown. For most of these diseases, a genetic basis, environmental factors and certain triggers have been suggested as possible risk factors.

Everyday cognitive failure and depressive symptoms predict fatigue in sarcoidosis: A prospective follow-up study.

Background: Fatigue is a major and disabling problem in sarcoidosis. Knowledge concerning correlates of the development of fatigue and possible interrelationships is lacking.

Objective: A conceptual model of fatigue was developed and tested.

Prevalence of interstitial and other lung diseases on Aruba.

Health care management has to be based on the local prevalence of diseases and the local diagnostic and therapeutic needs. So far, no systematic registration system for various lung diseases exists on Aruba. Questions that need to be answered are: what specific lung disorders occur on Aruba, and what are the specific needs there? The aim of this study was to assess the prevalence of lung disorders and the diversity of the patient population.

Extent of disease activity assessed by 18F-FDG PET/CT in a Dutch sarcoidosis population.

Background: Sarcoidosis is characterized by a wide range of disease manifestations. In the management and follow-up of sarcoidosis patients, knowledge of extent of disease, activity and severity is crucial. Objectives The aim of this study was to assess the extent, distribution and consistency of inflammatory organ involvement using 18F-FDG PET/CT (PET) in sarcoidosis patients with persistent disabling symptoms.

Association of the TNF-α G-308A polymorphism with TNF-inhibitor response in sarcoidosis.

Responsiveness to tumour necrosis factor (TNF) inhibitors has been associated with the TNF-α G-308A polymorphism in rheumatoid arthritis. The aim of this study was to examine the association between the presence of this polymorphism and the response to TNF inhibitors in patients with refractory sarcoidosis. Patients (n=111) who started TNF-inhibitor treatment (76 infliximab, 35 adalimumab) were followed for at least 1 year.

Body composition profiling in a Dutch sarcoidosis population.

Unlabelled: Muscle atrophy is a common problem in many chronic inflammatory diseases. It may occur as part of a generalized wasting process (cachexia) or be hidden due to preservation of fatmass (sarcopenia, sarcopenic obesity).

Objectives: The aim of this study was to assess the prevalence of cachexia and muscle atrophy in sarcoidosis and their association with disease activity and severity.

Severity of pulmonary involvement and (18)F-FDG PET activity in sarcoidosis.

Background: Assessing inflammatory activity is useful in the management of persistent symptomatic sarcoidosis patients. (18)F-FDG PET (PET) has been shown to be a sensitive technique to assess inflammatory activity in sarcoidosis. The aim of this study was to evaluate whether the severity of pulmonary involvement is associated with PET activity in persistent symptomatic sarcoidosis patients.

Diffuse alveolar hemorrhage in coumarin users: a fibrosing interstitial pneumonia trigger?

Background: Fibrosing interstitial pneumonias (IPs) include idiopathic pulmonary fibrosis (IPF) and nonspecific interstitial pneumonia (NSIP). It has been suggested that oxidative damage plays a role in the pathophysiology of idiopathic interstitial pneumonias. Diffuse alveolar hemorrhage (DAH) can cause oxidative stress.

A predictive tool for an effective use of (18)F-FDG PET in assessing activity of sarcoidosis.

Background: (18)F-FDG PET/CT (PET) is useful in assessing inflammatory activity in sarcoidosis. However, no appropriate indications are available. The aim of this study was to develop a prediction rule that can be used to identify symptomatic sarcoidosis patients who have a high probability of PET-positivity.

Therapeutic approach of hepatic sarcoidosis.

Purpose Of Review: Surveillance of hepatic involvement in sarcoidosis has not been standardized. Therefore, management of hepatic involvement is a clinical challenge. This review analyses published data on the pharmacological treatment of hepatic sarcoidosis.

F-18 FDG PET/CT for detecting bone and bone marrow involvement in sarcoidosis patients.

Background: The prevalence of bone involvement in sarcoidosis has been estimated to be 3% to 5%, mostly affecting the phalanges. The aim of this study was to assess the prevalence and distribution pattern of bone and bone marrow involvement as detected by positron emission tomography/computed tomography (PET/CT) in sarcoidosis patients.

Methods: Between June 2006 and September 2010, 122 patients suffering from severe sarcoidosis who underwent a PET/CT and met the inclusion criteria were studied.

Liver-test abnormalities in sarcoidosis.

Background: Sarcoidosis is a multisystemic inflammatory granulomatous disease. The prevalence of hepatic involvement is not clear.

Aim: The aim of this study was to establish the presence and severity of the liver-test abnormalities in sarcoidosis.

Development of cocaine-induced interstitial lung damage in two CYP2C and VKORC1 variant allele carriers.

Background: Often, the connection between drug use and the development of related inflammatory damage or idiosyncratic toxicities is hard to recognize and objectify. The presence of cytochrome P450 (CYP) variant genotypes appears to be a substantial susceptibility risk factor in the development of drug-induced pulmonary adverse events. We hypothesized that the presence of variant alleles may be associated with serious complications of illicit drug use.