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.

Aerosol delivery through high-flow nasal therapy: Technical issues and clinical benefits.

High-flow nasal cannula (HFNC) therapy is an oxygen delivery method particularly used in patients affected by hypoxemic respiratory failure. In comparison with the conventional "low flow" oxygen delivery systems, it showed several important clinical benefits. The possibility to nebulize drugs HFNC represents a desirable medical practice because it allows the administration of inhaled drugs, mostly bronchodilators, without the interruption or modification of the concomitant oxygen therapy.

Non-invasive mechanical ventilation as an alternative respiratory support during gastrostomy tube placement, in a patient with Duchenne muscular dystrophy, 24/24 hours ventilation dependent.

Patients with Duchenne muscular dystrophy may benefit from gastrostomy tube feeding due to progressive dysphagia and malnutrition. However, due to concomitant pathologies, they are often at high risk for anesthesiologic complications. We describe how the non-invasive mechanical ventilation has been an alternative successful respiratory support option during the gastrostomy tube placement in a patient with Duchenne muscular dystrophy, on continuous NIV treatment.

Intermittent Abdominal Pressure Ventilation: An Alternative for Respiratory Support.

Intermittent abdominal pressure ventilation is a positive pressure ventilation technique that works with abdominal compressions. It has been known since 1938; however, for many years, it was out of production. In recent years, a new device has been produced that has captured the attention to this old respiratory support technique.

The Angiotensin Converting Enzyme Deletion/Deletion Genotype Is a Risk Factor for Severe COVID-19: Implication and Utility for Patients Admitted to Emergency Department.

: Insertion/deletion polymorphisms of angiotensin-converting enzyme (ACE) have been previously described in association with adult respiratory distress syndrome (ARDS) and correlated to outcome. The ACE deletion/deletion(D/D)genotype represents a marker of thrombosis in subjects apparently without predisposing factors and/or traditional thrombophilic alterations and increases the risk of venous thromboembolism in subjects in whom a thrombogenic condition occurs. Thrombosis seems to play a role very early in the disease caused by SARS-CoV-2, in particular in those with severe COVID-19 pneumonia.

Daytime alternatives for non-invasive mechanical ventilation in neuromuscular disorders.

Mechanical ventilation in recent years has benefited from the development of new techniques and interfaces. These developments allowed clinicians to offer increasingly personalised therapies with the combination of different complementary techniques for treating respiratory insufficiency in patients with neuromuscular diseases. The mouthpiece ventilation, intermittent abdominal pressure ventilator and the negative pressure ventilation can offer many patients alternative therapy options when ventilation is required for many hours a day.

Silent dysphagia in two patients with Steinert disease and recurrent respiratory exacerbations.

We describe two cases of patients with Steinert's dystrophy or myotonic dystrophy type 1 (DM1) who presented with frequent respiratory exacerbations and pneumonia. They did not report any risk factors for asthma, allergy, bronchopathy or dysphagia in their history. The Videofluoroscopic swallow study test allowed to highlight post-swallowing aspiration phenomena responsible for respiratory exacerbations.

Mouthpiece ventilation in Duchenne muscular dystrophy: a rescue strategy for noncompliant patients.

Objective:: To evaluate mouthpiece ventilation (MPV) in patients with Duchenne muscular dystrophy (DMD) who are noncompliant with noninvasive ventilation (NIV).

Methods:: We evaluated four young patients with DMD who had previously refused to undergo NIV. Each patient was reassessed and encouraged to try MPV.