Feasibility of newborn screening for pyridoxine-dependent epilepsy.

Background: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy historically characterized by seizures that are resistant to antiseizure medications. Treatment with pyridoxine and lysine reduction therapies are associated with seizure control and improved developmental outcomes. In rare circumstances, patients have died prior to diagnosis and treatment with pyridoxine, and many patients are diagnosed after six months of age when lysine reduction therapies have limited efficacy.

Thoracic manifestations of rheumatic disease: a radiologist's view.

With varying prevalence and manifestations depending on the underlying disease, thoracic involvement is one of the major factors determining morbidity and mortality in patients with rheumatic diseases (RDs). The most frequent pulmonary complication is interstitial lung disease (ILD), but other thoracic manifestations can also be present. Often, the only way to depict these extra-articular manifestations of disease is through imaging.

Testing for normality: a user's (cautionary) guide.

The normality assumption postulates that empirical data derives from a normal (Gaussian) population. It is a pillar of inferential statistics that enables the theorization of probability functions and the computation of p-values thereof. The breach of this assumption may not impose a formal mathematical constraint on the computation of inferential outputs (e.

Assessing Direct Oral Anticoagulants in the Clinical Laboratory.

Direct oral anticoagulants (DOACs) have significant advantages over vitamin K antagonists including lack of need for routine laboratory monitoring. However, assessment of DOAC effect and concentration may be important to guide clinical management including need for DOAC reversal, particularly in acute or emergent situations. In this manuscript, the authors describe tests to screen for DOAC presence and tests that have demonstrated equivalence to gold standard testing for quantifying DOAC exposure.