9 documents found, page 1 of 1

Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency

Alpha 1-antitrypsin deficiency is an inherited autosomal codominant disorder, which predisposes patients to lung and/or liver disease. Even though it is considered rare, it is one of the most frequent genetic disorders worldwide, albeit remaining underdiagnosed. Several organizations and societies, including the Portuguese Society of Pulmonology have been elaborating guidelines and recommendations for the diagn...

Alpha-1 Antitrypsin Deficiency: Principles of Care

Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and liver disease. There is currently no cure for alpha-1 antitrypsin deficiency. However, appropriate treatment and a high standard of clinical care can prevent pati...

Organization of Home Mechanical Ventilation in Portugal: Characterization of Cu...

Introduction: Home Mechanical Ventilation (HMV) is increasing worldwide. Objective: Characterization of the Portuguese HMV Units. Methods: The HMV Team Group of the Portuguese Pulmonology Society prepared a questionnaire that was sent by e-mail addressed to Pneumology Department Directors throughout the country, and the responses were then analyzed. The results enabled a provisional classification of the Units,...

Alpha-1 Antitrypsin Deficiency: Principles of Care

Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and liver disease. There is currently no cure for alpha-1 antitrypsin deficiency. However, appropriate treatment and a high standard of clinical care can prevent pati...

Prevalence of Late-Onset Pompe Disease in Portuguese Patients with Diaphragmati...

Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/or diaphragmatic paralysis. Since muscle strength loss is characteristic of several ...

The Role of Sleepiness on Arterial Stiffness Improvement After CPAP Therapy in ...

BACKGROUND: Obstructive sleep apnea (OSA) is associated with increased cardiovascular risk. This study aim to assess differences in changes in arterial stiffness of two groups of patients, defined as having daytime sleepiness or not, after continuous positive airway pressure (CPAP) treatment. METHODS: A selected cohort of consecutive male patients, under 65 years old, with moderate to severe OSA and without gre...

Use of CPAP to Reduce Arterial Stiffness in Moderate-to-Severe Obstructive Slee...

INTRODUCTION: Sleepiness is a cardinal symptom in obstructive sleep apnoea (OSA) but most patients have unspecific symptoms. Arterial stiffness, evaluated by pulse wave velocity (PWV), is related to atherosclerosis and cardiovascular (CV) risk. Arterial stiffness was reported to be higher in patients with OSA, improving after treatment with continuous positive airway pressure (CPAP). This study aims to assess w...

Terapêutica na DPOC

As vivências da mulher durante a gravidez