Publications by authors named "F Cairello"
Background: cardio-facio-cutaneous syndrome is a rare genetic disorder affecting less than 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms may be present, ranging from feeding difficulties to gastroesophageal reflux and constipation.In this report we describe a case of this syndrome characterized by severe feeding and growth difficulties, with a particular focus on the management of gastroenterological complications.
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- Acute hospitalisation is necessary for patients with Neuromuscular disorders (NMDs) facing respiratory issues, swallowing problems, heart failure, or the need for urgent surgeries; specialized hospitals are preferred for managing these conditions.
- In urgent situations, NMD patients may be treated at nearby hospitals even if they lack specialization, which can impact the quality of care due to the experience of local emergency physicians.
- A workshop in April 2022 brought together 50 healthcare professionals in Italy to develop consensus guidelines for emergency care in NMD patients, aiming to create effective Emergency Cards that include essential information and treatment recommendations for the most common NMDs.
Article Synopsis
- The case highlights an instance of aortopulmonary window in a patient where an anomalous left coronary artery from the pulmonary artery was discovered during surgery, despite thorough pre-operative evaluation with echocardiography.
- Pre-operative studies did not reveal any indications of coronary anomalies, raising questions about the effectiveness of current diagnostic methods.
- The discussion emphasizes the need for improving pre-operative diagnostic accuracy and seeks suggestions on how to achieve this.
DiGeorge syndrome has heterogeneous clinical presentation, and for this reason, its diagnosis can be challenging and may be missed. Since CHDs are very common in this patients, they can be considered pillars of clinical diagnosis of the syndrome. Therefore, accurate echocardiography is needed to detect even minor cardiac anomalies, as some specific malformation like crossed pulmonary arteries can be associated with 22q11 syndrome.
View Article and Find Full Text PDFBackground: RASopathies are a set of relatively common autosomal dominant clinically and genetically heterogeneous disorders. Cardiac outcomes in terms of mortality and morbidity for common heart defects (such as pulmonary valve stenosis and hypertrophic cardiomyopathy) have been reported. Nevertheless, also Atypical Cardiac Defects (ACDs) are described.
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