32 documents found, page 1 of 4

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...

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...

Visual and ocular motor function in the atypical form of neurodegeneration with...

BACKGROUND/AIMS: Neurodegeneration with brain iron accumulation (NBIA) type I is a rare disease that can be divided into a classical or atypical variant, according to age of onset and clinical pattern. Neuro-ophthalmological involvement has been documented in the classical variant but only anecdotically in the atypical variant. We sought to describe the visual and ocular motor function in patients with atypical...

Association of Enteric Parasitic Infections with Intestinal Inflammation and Pe...

The cumulative effect of repeated asymptomatic enteric infections on intestinal barrier is not fully understood in infants. We aimed to evaluate the association between previous enteric parasitic infections and intestinal inflammation and permeability at 24-months of age, in asymptomatic infants of São Tomé Island. A subset of infants from a birth cohort, with intestinal parasite evaluations in at least four po...

COPD: A stepwise or a hit hard approach?

Current guidelines differ slightly on the recommendations for treatment of Chronic Obstructive Pulmonary Disease (COPD) patients, and although there are some undisputed recommendations, there is still debate regarding the management of COPD. One of the hindrances to deciding which therapeutic approach to choose is late diagnosis or misdiagnosis of COPD. After a proper diagnosis is achieved and severity assessed...

Adult Pancreatoblastoma - Case Report and Review of Literature

Most cases of pancreatoblastoma, a rare malignant epithelial tumor of the pancreas, are seen in the pediatric population. The rarity of pancreatoblastoma, the similar radiologic findings to those seen in other pancreatic lesions, and its histopathologic heterogeneity, make its preoperative diagnosis in adults a real challenge. We report ultrasound, computed tomography and magnetic resonance imaging correlative ...

Pink! Why not? On the unusual colour of Évora Cathedral

The inner walls of the Evora Cathedral have a pink/orange hue of unknown origin that covers the majority of the surface. In this work, an integrated approach was envisaged to explore whether the walls pink colour is due to anthropic intention or to natural sources, by combining material characterisation of the surface layers with its microbiological study. Mortars material characterisation showed no presence of...

Elbow Arthroplasty in a patient with Juvenile Idiopathic Arthritis

Introduction: Juvenile Idiopathic Arthritis (JIA) is an autoimmune systemic chronic inflammatory disease that affects the joints as a chronic inflammatory synovitis. It appears before the 16 years old and there are many disease types, like the oligoarticular, polyarticular, systemic, etc. The orthopedic treatment and prognosis are defined by the joint sequelae grades, affecting mostly the hips, knees, ankles, e...

Information and Communication Technologies in Long-term and Palliative Care

Pulmonary hypertension in Portugal: first data from a nationwide registry

INTRODUCTION: Pulmonary arterial hypertension (PAH) is a rare disease that must be managed in specialized centers; therefore, the availability of epidemiological national data is critical. METHODS: We conducted a prospective, observational, and multicenter registry with a joint collaboration from five centers from Portugal and included adult incident patients with PAH or chronic thromboembolic pulmonary hyperte...