Inherited cardiovascular diseases cover the inherited cardiovascular disease familial hypercholesterolemia and inherited cardiac diseases, like inherited cardiomyopathies and inherited arrhythmia syndromes. Cascade genetic counseling and testing in inherited cardiovascular diseases have had three decades of academic attention. Inherited cardiovascular diseases affect around 1-2% of the population worldwide and cascade genetic counseling and testing are considered valuable since preventive measures and/or treatments are available.
View Article and Find Full Text PDFBackground: Autoimmune pulmonary alveolar proteinosis is an ultra-rare pulmonary disease. Whole lung lavage (WLL) is considered the gold standard therapy. We report a protocol for a new modified lavage technique (nMLT) in which controlled repetitive manual hyperinflation (MH) and intermittent chest percussion are used to enhance WLL efficacy.
View Article and Find Full Text PDFObjectives: Biliary atresia (BA) causes neonatal cholestasis that requires hepatoportoenterostomy or liver transplantation (LT) for long-term survival. Nutritional optimization is necessary as sarcopenia and sarcopenic obesity have been associated with adverse clinical outcome. Currently, mid upper arm circumference (MUAC) is considered the most accurate indicator.
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