The Multidisciplinary Guidelines for Diagnosis and Referral in Cerebral Visual Impairment.

Introduction: Cerebral visual impairment (CVI) is an important cause of visual impairment in western countries. Perinatal hypoxic-ischemic damage is the most frequent cause of CVI but CVI can also be the result of a genetic disorder. The majority of children with CVI have cerebral palsy and/or developmental delay.

De Novo Variants in an Early-Onset Complex Neurodevelopmental Syndrome.

encodes the α1 subunit of the sodium-potassium ATPase, an electrogenic cation pump highly expressed in the nervous system. Pathogenic variants in other subunits of the same ATPase, encoded by or , are associated with syndromes such as hemiplegic migraine, dystonia, or cerebellar ataxia. Worldwide, only 16 families have been reported carrying pathogenic variants to date.

Patients with NSCLC may display a low ratio of p.T790M activating EGFR mutations in plasma at disease progression: implications for personalised treatment.

Introduction: NSCLC harboring activating mutations of EGFR is highly sensitive to first-line EGFR-tyrosine kinase inhibitors (TKIs), but drug resistance depending on the EGFR mutation p.T790M will occur in about 50-60% of patients. Detailed information on the amount of p.

Physiological basis and long-term clinical outcome of discordance between fractional flow reserve and coronary flow velocity reserve in coronary stenoses of intermediate severity.

Background: Discordance between fractional flow reserve (FFR) and coronary flow velocity reserve (CFVR) may reflect important coronary pathophysiology but usually remains unnoticed in clinical practice. We evaluated the physiological basis and clinical outcome associated with FFR/CFVR discordance.

Methods And Results: We studied 157 intermediate coronary stenoses in 157 patients, evaluated by FFR and CFVR between April 1997 and September 2006 in which revascularization was deferred.

Exertional hypoxemia in stable COPD is common and predicted by circulating proadrenomedullin.

Background: The prevalence of exertional hypoxemia in unselected patients with COPD is unknown. Intermittent hypoxia leads to adrenomedullin (ADM) upregulation through the hypoxia-inducible factor-1 pathway. We aimed to assess the prevalence and the annual probability to develop exertional hypoxemia in stable COPD.

Methicillin-resistant Staphylococcus aureus in food products: cause for concern or case for complacency?

The widespread use of antimicrobial agents, in combination with insufficient infection control measures, is the main driver of the current pandemic of antimicrobial resistance in human pathogens. The use of antimicrobials in food animal production also contributes, because resistant organisms and resistance genes can spread from animals to humans by direct contact or through the food chain. An important, traditionally human, pathogen, methicillin-resistant Staphylococcus aureus (MRSA), is currently endemic in many hospitals around the world and has also emerged in the community.

Effect of a treatment strategy consisting of pravastatin, vitamin E, and homocysteine lowering on carotid intima-media thickness, endothelial function, and renal function in patients with mild to moderate chronic kidney disease: results from the Anti-Oxidant Therapy in Chronic Renal Insufficiency (ATIC) Study.

Background: Patients with chronic kidney disease have an increased risk of cardiovascular disease. Oxidative stress has been proposed to play a role in the development of cardiovascular disease among these patients.

Methods: We conducted a randomized, double-blind trial in 93 patients (Cockcroft-Gault equation: creatinine clearance, 38+/-15 [mean+/-SD] mL/min per 1.