Camptodactyly and pulmonary hypoplasia syndrome was described for the first time in 1974. Today 15 cases have been found. None were subject to a prenatal diagnosis as any ultrasonography. The case we observe is a 27 years old woman, third gestation, showing a polyhydramnios at 25 weeks of gestation. The ultrasonographic examination showed deformation with a rounded abdomen, a narrow thoracic frame slightly concave, no gastric picture and hands in constant flexion. After elimination of the V.A.T.E.R.' syndrome the camptodactyly's syndrome with pulmonary hypoplasia was proposed. Because of the lethal character of this syndrome, the abortion was realised. The photos of the fetus were the same as the ultrasonographic pictures during the prenatal diagnosis. The absence of intrinsic (paralysis) or extrinsic (compression) movements of the fetus is very important in the genesis of "deformations". The severity of the deformities depends on the importance of akinesia.
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Vet Sci
January 2025
Beef Cattle Institute, College of Veterinary Medicine, Kansas State University, Manhattan, KS 66506, USA.
Thoracic ultrasonography (TUS) has emerged as a critical tool in the diagnosis and management of respiratory diseases in cattle, particularly bovine respiratory disease (BRD), which is one of the most economically significant health issues in feedyard operations. The objective of this review is to explore TUS in veterinary medicine, including the historical development, methodologies, and clinical applications for diagnosing and prognosing respiratory diseases. This review also emphasizes the importance of operator training, noting that even novice operators can achieve diagnostic consistency with proper instructions.
View Article and Find Full Text PDFCirc Genom Precis Med
January 2025
Centre for Heart Lung Innovation, University of British Columbia, Vancouver. (K.H., M.A., L.R., Y.L., A.S., H.H., L.R.B., Z.W.L.).
Background: Protein-truncating mutations in the titin gene are associated with increased risk of atrial fibrillation. However, little is known about the underlying pathophysiology.
Methods: We identified a heterozygous titin truncating variant (TTNtv) in a patient with unexplained early onset atrial fibrillation and normal ventricular function.
JACC Adv
January 2025
Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Background: Liver synthetic dysfunction predicts outcomes in cardiac intensive care unit (CICU) patients.
Objectives: The purpose of this study was to evaluate the associations between the severity and extent of admission liver function test (LFT) abnormalities and mortality in a mixed CICU population.
Methods: This historical cohort study included unique CICU patients from 2007 to 2018 with available data for admission LFT values.
Minerva Anestesiol
January 2025
Transplant Anesthesia and Critical Care, Pisa NHS and University Hospitals, Pisa, Italy -
Intraoperative hemodynamic monitoring is crucial for managing patients with end-stage liver disease (ESLD) undergoing orthotopic liver transplantation (OLT) due to their complex cardiovascular and pulmonary abnormalities. Traditionally, pulmonary artery catheterization (PAC) has been the standard for hemodynamic monitoring during OLT. However, the use of transesophageal echocardiography (TEE) has increased due to its real-time visualization of cardiac and vascular structures, which aids in managing hemodynamic instability during the three surgical phases of OLT: pre-anhepatic, anhepatic, and neo-hepatic.
View Article and Find Full Text PDFPediatr Res
January 2025
Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Background: To retrospectively investigate the developmental outcomes at 3 years of age in patients with congenital diaphragmatic hernia (CDH) using a multicenter collaborative research approach.
Methods: We evaluated patients with CDH and no other malformations born between 2010 and 2016 in seven facilities in the Japanese CDH Research Group. The developmental quotient (DQ) at 3 years of age was evaluated using the Kyoto Scale of Psychological Development 2001, the most standardized scale in Japan.
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