Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests.

Objectives: Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder characterized by intractable neonatal seizures responsive to pyridoxine. Diagnosis relies on quantification of α-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid in urine or plasma in patients with overt symptoms. We developed and validated simple and rapid first- and second-tier methods for two recently published biomarkers of PDE (2S,6S-/2S,6R-oxopropylpiperidine-2-carboxylic acid (2-OPP) and 6-oxopiperidine-2-carboxylic acid (6-oxoPIP)) in extended newborn screening (NBS) programs from neonatal dried blood spots (DBS).

Tunable polarization entangled photon-pair source in rhombohedral boron nitride.

Entangled photon-pair sources are pivotal in various quantum applications. Miniaturizing the quantum devices to meet the requirement in limited space applications drives the search for ultracompact entangled photon-pair sources. The rise of two-dimensional (2D) semiconductors has been demonstrated as ultracompact entangled photon-pair sources.

Effectiveness and safety of intravenous immunoglobulin for peripheral neuropathy in EGPA patients: a retrospective study.

Eosinophilic granulomatosis with polyangiitis (EGPA) is a chronic inflammatory disease belonging to the spectrum of small-vessel vasculitis associated with the presence of anti-neutrophil cytoplasmic antibodies (ANCAs), also characterized by eosinophilic infiltration of target organs. Peripheral neuropathy (PN) affects about 2/3 of the patients as a presenting symptom and typically represents a vasculitic involvement. A few studies have addressed the role of intravenous immunoglobulin (IVIg) for the treatment of PN in EGPA.

Dietary Antioxidants and Natural Compounds in Preventing Thrombosis and Cardiovascular Disease.

Reactive oxygen species (ROS) contribute to endothelial dysfunction, platelet activation, and coagulation abnormalities, promoting thrombus formation. Given the growing interest in non-pharmacological approaches to modulate oxidative stress, we examine the potential of various dietary interventions and antioxidant supplementation in reducing oxidative damage and preventing thrombotic events. Key dietary patterns, such as the Mediterranean, Dietary Approaches to Stop Hypertension (DASH), and ketogenic diets, as well as antioxidant-rich supplements like curcumin, selenium, and polyphenols, demonstrate promising effects in improving oxidative stress markers, lipid profiles, and inflammatory responses.