Alpha-1 antitripsyn deficiency and augmentation therapy in pregnancy: two case reports.

Alpha-1 antitrypsin deficiency (AATD) is an inherited condition characterized by reduced plasma levels of alpha-1 antitrypsin (AAT), often leading to pulmonary diseases primarily emphysema and/or chronic obstructive pulmonary disease (COPD), but also bronchiectasis, bronchial asthma, or other less common disorders. Early diagnosis enables AAT augmentation therapy, which has proven to be effective in slowing down functional decline and improving survival rates. This article presents two cases of pregnant women with rare allelic variants of AATD who received AAT augmentation therapy, exploring the limited evidence on its safety during pregnancy and the potential role of decreased serum AAT levels in pregnancy-related complications.

The international Hip Outcome Tool 12 questionnaire (iHOT-12): an Italian language cross-cultural adaptation and validation.

Background: Patient-reported outcome (PRO) measures are essential for evaluating disease-related quality of life. The International Hip Outcome Tool 12 (iHOT12) assesses various aspects of hip-related symptoms, function, sports participation, and social limitations. This study aimed to adapt and validate an Italian version of the iHOT12 according to COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) guidelines.

ICSI and PGT-A in PCOS phenotype-D patients: a matched case-control study versus idiopathic infertile women.

Purpose: To assess oocyte competence and embryo chromosomal constitution in phenotype-D PCOS women undergoing ICSI for PGT-A at the blastocyst stage.

Methods: Retrospective study at a private IVF center. In the period 2013-2021, 58 naïve phenotype-D PCOS women (i.