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.

Long-Term High-Flow Nasal Therapy in Patients with Bronchiectasis of Different Severity: A Retrospective Cohort Study.

: High-flow nasal therapy (HFNT) has been shown to reduce exacerbations of COPD and some evidence displays benefits in non-cystic fibrosis bronchiectasis (NCFB) patients. The present study aimed to compare the effectiveness of 12 months of home HFNT on the annual exacerbation rate between mild/moderate and severe NCFB patients, classified by the bronchiectasis severity index (BSI). Secondary outcomes were the evaluation of the dyspnea, pulmonary function, and sputum cultures in both groups.

Cytoplasmic strings in human blastocysts: hypotheses of their role and implications for embryo selection.

Study Question: What are the implications of the presence cytoplasmic strings (Cyt-S) and their quantity and dynamics for the pre-implantation development of human blastocysts?

Summary Answer: Cyt-S are common in human embryos and are associated with faster blastocyst development, larger expansion, and better morphological quality.

What Is Known Already: Cyt-S are dynamic cellular projections connecting inner cell mass and trophectoderm (TE) cells, that can be observed during blastocyst expansion. Their prevalence in human embryos has been estimated to be between 44% and 93%.

Illness representation in patients with multiple sclerosis: A preliminary narrative medicine study.

Background: The development of personalized interventions aimed at coping with multiple sclerosis is enriched by the understanding of patients' representations of the illness.

Objective: The aim of this study was to investigate the association between patients' illness representations versus contextual factors (i.e.

Indications and techniques of non-invasive ventilation (NIV) in neuromuscular diseases.

The neuromuscular patients may experience the need for respiratory support due to the onset of respiratory failure. Some skills are essential to achieve therapeutic success. In addition to technical knowledge, it is essential to have knowledge relating to individual neuromuscular diseases.

Exploration of three Dyadobacter fermentans enzymes uncovers molecular activity determinants in CE15.

Glucuronoyl esterases (GEs) are serine-type hydrolase enzymes belonging to carbohydrate esterase family 15 (CE15), and they play a central role in the reduction of recalcitrance in plant cell walls by cleaving ester linkages between glucuronoxylan and lignin in lignocellulose. Recent studies have suggested that bacterial CE15 enzymes are more heterogeneous in terms of sequence, structure, and substrate preferences than their fungal counterparts. However, the sequence space of bacterial GEs has still not been fully explored, and further studies on diverse enzymes could provide novel insights into new catalysts of biotechnological interest.

Extracellular vesicles secreted by cumulus cells contain microRNAs that are potential regulatory factors of mouse oocyte developmental competence.

The role of cumulus cells (CCs) in the acquisition of oocyte developmental competence is not yet fully understood. In a previous study, we matured cumulus-denuded fully-grown mouse oocytes to metaphase II (MII) on a feeder layer of CCs (FL-CCs) isolated from developmentally competent (FL-SN-CCs) or incompetent (FL-NSN-CCs) SN (surrounded nucleolus) or NSN (not surrounding nucleolus) oocytes, respectively. We observed that oocytes cultured on the former could develop into blastocysts, while those matured on the latter arrested at the 2-cell stage.

Dickkopf-1 (DKK1) drives growth and metastases in castration-resistant prostate cancer.

Metastatic castration-resistant prostate cancer (mCRPC) is associated with a poor prognosis and remains an incurable fatal disease. Therefore, the identification of molecular markers involved in cancer progression is urgently needed to develop more-effective therapies. The present study investigated the role of the Wnt signaling modulator Dickkopf-1 (DKK1) in the growth and metastatic progression of mCRPC.

Intravenous fosfomycin for treatment of severe infections caused by carbapenem-resistant Acinetobacter baumannii: A multi-centre clinical experience.

Background: Severe infections caused by carbapenem-resistant Acinetobacter baumannii (CRAB) have been reported increasingly over the past few years. Many in-vivo and in-vitro studies have suggested a possible role of intravenous fosfomycin for the treatment of CRAB infections.

Methods: This multi-centre, retrospective study included patients treated with intravenous fosfomycin for severe infections caused by CRAB admitted consecutively to four hospitals in Italy from December 2017 to December 2022.

Genomic mining of Geobacillus stearothermophilus GF16 for xylose production from hemicellulose-rich biomasses using secreted enzymes.

The valorization of lignocellulosic biomass, derived from various bio-waste materials, has received considerable attention as a sustainable approach to improve production chains while reducing environmental impact. Microbial enzymes have emerged as key players in the degradation of polysaccharides, offering versatile applications in biotechnology and industry. Among these enzymes, glycoside hydrolases (GHs) play a central role.

Motion acquisition of gait characteristics one week after total hip arthroplasty: a factor analysis.

Introduction: Clinical gait analysis can be used to evaluate the recovery process of patients undergoing total hip arthroplasty (THA). The postoperative walking patterns of these patients can be significantly influenced by the choice of surgical approach, as each procedure alters distinct anatomical structures. The aim of this study is twofold.

A novel endo-1,4-β-xylanase from Alicyclobacillus mali FL18: Biochemical characterization and its synergistic action with β-xylosidase in hemicellulose deconstruction.

A novel endo-1,4-β-xylanase-encoding gene was identified in Alicyclobacillus mali FL18 and the recombinant protein, named AmXyn, was purified and biochemically characterized. The monomeric enzyme worked optimally at pH 6.6 and 80 °C on beechwood xylan with a specific activity of 440.

The ants of the Galápagos Islands (Hymenoptera, Formicidae): a historical overview, checklist, and identification key.

The Galápagos ant fauna has long been understudied, with the last taxonomic summary being published almost a century ago. Here, a comprehensive and updated overview of the known ant species of the Galápagos Islands is provided with updated species distributions. The list is based on an extensive review of literature, the identification of more than 382,000 specimens deposited in different entomological collections, and recent expeditions to the islands.

Endothelial Extracellular Vesicles Enriched in microRNA-34a Predict New-Onset Diabetes in Coronavirus Disease 2019 (COVID-19) Patients: Novel Insights for Long COVID Metabolic Sequelae.

Emerging evidence indicates that the relationship between coronavirus disease 2019 (COVID-19) and diabetes is 2-fold: 1) it is known that the presence of diabetes and other metabolic alterations poses a considerably high risk to develop a severe COVID-19; 2) patients who survived a severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection have an increased risk of developing new-onset diabetes. However, the mechanisms underlying this association are mostly unknown, and there are no reliable biomarkers to predict the development of new-onset diabetes. In the present study, we demonstrate that a specific microRNA (miR-34a) contained in circulating extracellular vesicles released by endothelial cells reliably predicts the risk of developing new-onset diabetes in COVID-19.

An unusual way to improve lung function in congenital myopathies: the power of singing.

Congenital myopathies (CMs) are a clinically and genetically heterogeneous group of disorders characterized by early onset weakness, hypotonia and characteristic structural abnormalities in muscle fibres. Hypotonia and weakness can be present at birth or appear in infancy, and a static or slowly progressive clinical course may present with muscle weakness, loss of spontaneous movement, involuntary muscle activity, and muscle atrophy. Often patients develop a restrictive syndrome and respiratory failure and require respiratory support In our case, we described lung improvement and respiratory muscle training due to singing in a young patient, affected by CMs with a poor adherence to non-invasive mechanical ventilation.