The Philosophy of Evidence-Based Principles and Practice in Nutrition

The practice of evidence-based nutrition involves using the best available nutrition evidence, together with clinical experience, to conscientiously work with patients’ values and preferences to help them prevent (sometimes), resolve (sometimes), or cope with (often) problems related to their physical, mental, and social health. This article outlines the 3 fundamental principles of evidence-based practice as applied to the field of clinical nutrition. First, optimal clinical decision making requires awareness of the best available evidence, which ideally will come from unbiased systematic summaries of that evidence. Second, evidence-based nutrition provides guidance on how to decide which evidence is more or less trustworthy—that is, how certain can we be of our patients’ prognosis, diagnosis, or of our therapeutic options? Third, evidence alone is never sufficient to make a clinical decision. Decision makers must always trade off the benefits with the risks, burden, and costs associated with alternative management strategies, and, in so doing, consider their patients’ unique predicament, including their values and preferences

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. CSNK2B variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first 2 years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures.Genetics of disease, diagnosis and treatmen

Gestational age and neonatal brain microstructure in term born infants: A birth cohort study

10.1371/journal.pone.0115229PLoS ONE912e11522