Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants.

Background: Hypophosphatasia (HPP) is a rare disease caused by deficient activity of tissue-nonspecific alkaline phosphatase (ALP), encoded by the ALPL gene. The primary objective was to explore novel ALPL variants by whole genome sequencing (WGS) in patients with HPP who previously tested negative by standard methods for ALPL variants. The secondary objective was to search for genes beyond ALPL that may reduce ALP activity or contribute to HPP symptoms.

Improvement of photocatalytic activity in the degradation of 4-chlorophenol and phenol in aqueous medium using tin-modified TiO photocatalysts.

In this work, we present the synthesis of TiO photocatalysts modified with different % mol of tin using the sol-gel method. The materials were characterized using different analytical techniques. The Rietveld refinement, XPS, Raman and UV-Vis techniques confirm the substitution of tin in the TiO structural lattice due to changes in crystal lattice parameters, the low-energy shift of the Sn 3d orbital, generation of oxygen vacancies and the decreased band gap and increased BET surface area.

Experiences and information needs of women who become pregnant after bariatric surgery: An interpretive descriptive qualitative study.

Background: Obesity is known to negatively impact fertility and increase pregnancy related complications. Many women of childbearing age opt for bariatric surgery to lose weight in the preconception period. Physiological changes of bariatric surgery are associated with both benefits and risks for maternal and neonatal outcomes.