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Pulmonology
December 2025
Department of Cardiovascular and Pulmonary Sciences, Catholic University of the Sacred Hearth, Rome, Italy.
New ultrathin bronchoscopes (UTBs) enable the inspection and biopsy of small airways, potentially offering diagnostic advantages in sarcoidosis. In this prospective study, patients with suspected sarcoidosis underwent airway inspection with a UTB. Observed airway abnormalities were categorised into six predefined patterns.
View Article and Find Full Text PDFMultimed Man Cardiothorac Surg
January 2025
Congenital Heart Center, Division of Cardiovascular Surgery, Department of Surgery, University of Florida, Gainesville, FL, USA.
The Berlin Heart EXCOR is a pulsatile paracorporeal ventricular assist device (VAD) for neonates, infants, children and adults with congenital or acquired severe ventricular dysfunction. Berlin Heart EXCOR VADs are routinely used as either a bridge to a cardiac transplantation, or occasionally as a bridge to ventricular recovery. Our programmatic philosophy is to bridge neonates and infants with functionally univentricular ductal-dependent systemic circulation or functionally univentricular ductal-dependent pulmonary circulation who are at high risk for staged palliation because of important cardiac risk factors with a single-ventricle VAD (sVAD) as a bridge to a cardiac transplant.
View Article and Find Full Text PDFTurk J Ophthalmol
January 2025
İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Ophthalmology, İstanbul, Türkiye.
Jeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications. Approximately 1 in every 100,000 to 130,000 babies is born with JS. Most patients with JS have respiratory distress due to inadequate lung development and many lose their lives due to respiratory failure.
View Article and Find Full Text PDFHereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Cardiovascular and Thoracic Surgery, University of Louisville School of Medicine, Louisville, Kentucky, USA.
Our patient presented to the emergency room following a motor vehicle accident. The traumatic tricuspid valve rupture was diagnosed by transthoracic echocardiogram, and his respiratory status declined rapidly. He was placed on veno-venous extracorporeal membrane oxygenation (VV ECMO) to bridge him to surgical repair.
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