805 Results

Cardiac pathology in spinal muscular atrophy: a systematic review.

Background: Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene.

Cardiac defects contribute to the pathology of spinal muscular atrophy models.

The purpose of this report is to determine whether cardiac tissue is altered in SMA models and whether this could contribute to SMA pathogenesis.

Congenital heart disease is a feature of severe infantile spinal muscular atrophy.

Objective: Homozygous deletions/mutations of the SMN1 gene cause infantile spinal muscular atrophy (SMA). The presence of at least one SMN2 gene copy is required for normal embryogenesis. Lack of SMN protein...

The role of endothelial cells in cystic fibrosis.

CFTR has mainly been studied in epithelial cells although it is also functional and expressed in other cell types including endothelial cells. The present review summarizes current knowledge on the role of the endothelium in CF.

The Comorbidity of Chronic Obstructive Pulmonary Disease and Peripheral Artery Disease - A Systematic Review.

The comorbidity of peripheral arterial disease (PAD) and chronic obstructive pulmonary disease (COPD) is obvious from a clinical point of view, especially as smoking is an important risk factor for both.

Short term optimization of glycaemic control using insulin improves sympatho-vagal tone activities in patients with type 2 diabetes.

Introduction: Diabetic cardiac autonomic neuropathy (CAN) is potentially life threatening and its severity might further be aggravated by poor glycaemic control. A decrease in Heart rate variability (HRV) is the earliest finding...

The role of fibrinogen and fibrinogen concentrate in cardiac surgery: an international consensus statement from the Haemostasis and Transfusion Scientific Subcommittee of the European Association of Cardiothoracic Anaesthesiology.

To date, data regarding the efficacy and safety of administering fibrinogen concentrate in cardiac surgery are limited. Studies are limited by their low sample size and large heterogeneity with regard to the patient population...

Current Evidence for Pharmacologic Reversal Using Direct Oral Anticoagulants: What's New?

Direct oral anticoagulants are increasingly used in clinical practice and have addressed many of the issues related to vitamin K antagonists. However, the lack of reversal in life-threatening situations raises concerns regarding patient...

Reversal agents for oral anticoagulant-associated major or life-threatening bleeding.

Oral anticoagulants (OA) are effective drugs for treating and preventing the formation of blood clots in patients with atrial fibrillation, mechanical heart valves and venous thromboembolism but their therapeutic effect is always counterbalanced...

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.

In part 2 of this update of the DMD care considerations, we present the latest recommendations for respiratory, cardiac, bone health and osteoporosis, and orthopaedic and surgical management for boys and men with DMD.

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