Primary cilia are unique sensory organelles that coordinate a wide variety of different signaling pathways to control cellular processes during development and in tissue homeostasis. Defects in function or assembly of these antenna-like structures are therefore associated with a broad range of developmental disorders and diseases called ciliopathies. Recent studies have indicated a major role of different populations of cilia, including nodal and cardiac primary cilia, in coordinating heart development, and defects in these cilia are associated with congenital heart disease. Here, we present an overview of the role of nodal and cardiac primary cilia in heart development.
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http://dx.doi.org/10.4161/org.27483 | DOI Listing |
Genome Med
December 2024
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD and MSA Rare Disease, Working Group, Paris, France.
Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.
View Article and Find Full Text PDFRespir Res
December 2024
National Jewish Health, Denver, USA.
Background: We sought consensus among practising respiratory physicians on the prediction, identification and monitoring of progression in patients with fibrosing interstitial lung disease (ILD) using a modified Delphi process.
Methods: Following a literature review, statements on the prediction, identification and monitoring of progression of ILD were developed by a panel of physicians with specialist expertise. Practising respiratory physicians were sent a survey asking them to indicate their level of agreement with these statements on a binary scale or 7-point Likert scale (- 3 to 3), or to select answers from a list.
BMC Psychiatry
December 2024
Etlik City Hospital, Psychiatry Clinic, Ankara, Turkey.
Background: Low-grade systemic inflammation has been reported in many psychiatric diseases and is described as a non-severe state of the inflammatory response. Post-traumatic stress disorder (PTSD) is a chronic psychiatric disorder characterized by symptoms of avoidance, re-experiencing and hyperarousal that develop secondary to a serious traumatic event. The trauma itself creates psychological and biological changes in the individual, apart from PTSD.
View Article and Find Full Text PDFCommun Med (Lond)
December 2024
Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
Background: Wide QRS complex tachycardia (WCT) differentiation into ventricular tachycardia (VT) and supraventricular wide complex tachycardia (SWCT) remains challenging despite numerous 12-lead electrocardiogram (ECG) criteria and algorithms. Automated solutions leveraging computerized ECG interpretation (CEI) measurements and engineered features offer practical ways to improve diagnostic accuracy. We propose automated algorithms based on (i) WCT QRS polarity direction (WCT Polarity Code [WCT-PC]) and (ii) QRS polarity shifts between WCT and baseline ECGs (QRS Polarity Shift [QRS-PS]).
View Article and Find Full Text PDFAm J Crit Care
January 2025
Christine A. Schindler is a critical care pediatric nurse practitioner, critical care advanced practice provider program director, Children's Wisconsin/Medical College of Wisconsin, and a clinical professor, Marquette University, Milwaukee, Wisconsin.
Background: The quality cardiopulmonary resuscitation (CPR) coach role was developed for hospital-based resuscitation teams. This supplementary team member (CPR coach) provides real-time, verbal feedback on chest compression quality to compressors during a cardiac arrest.
Objectives: To evaluate the impact of a quality CPR coach training intervention on resuscitation teams, including presence of coaches on teams and physiologic metrics of quality CPR delivery in real compression events.
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