There is a wide spectrum of craniofacial bone disorders and dysplasias because embryological development of the craniofacial region is complex. Classification of craniofacial bone disorders and dysplasias is also complex because they exhibit complex clinical, pathological, and molecular heterogeneity. Most craniofacial disorders and dysplasias are rare but they present an array of phenotypes that functionally impact the orofacial complex. Management of craniofacial disorders is a multidisciplinary approach that involves the collaborative efforts of multiple professionals. This review provides an overview of the complexity of craniofacial disorders and dysplasias from molecular, clinical, and management perspectives.
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http://dx.doi.org/10.1016/j.bonr.2024.101747 | DOI Listing |
Medicine (Baltimore)
January 2025
Department of the Hepatobiliary Pancreatic and Transplant Surgery, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
The optimal surgical indication for intraductal papillary mucinous neoplasms (IPMN) remains highly contentious. We aimed to determine the preoperative predictive factors of malignancy and independent prognostic factors in patients with IPMN who underwent curative-intent resection. In this study, 104 patients with a pathological diagnosis of IPMN who underwent curative-intent resection were included.
View Article and Find Full Text PDFJ Assist Reprod Genet
January 2025
Department of Obstetrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Pregnancy complications pose challenges for both pregnant women and obstetricians globally, with the pathogenesis of many remaining poorly understood. Recently coined as a mode of cell death, cuproptosis has been proposed but remains largely unexplored. This process involves copper overload, resulting in the accumulation of fatty acylated proteins and subsequent loss of iron-sulfur cluster proteins.
View Article and Find Full Text PDFPurpose: Tibial rotational deformity is a known risk factor for patellofemoral joint (PFJ) disorders. However, it is commonly associated with other abnormalities which affect the PFJ. The purpose of this study was to describe the prevalence of associated factors known to affect PFJ in patients undergoing rotational tibial osteotomy and their implication for the correction level.
View Article and Find Full Text PDFNat Rev Dis Primers
January 2025
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.
View Article and Find Full Text PDFJ Perinat Neonatal Nurs
October 2024
Author Affiliations:Duke University School of Nursing, Durham (Ms Adeku, Mrs Defore, Dr Newberry, and Ms Yates); University of North Carolina Neonatology, Chapel Hill (Dr Newberry); and Duke University Neonatology, Durham, North Carolina (Ms Yates).
Background: Bronchopulmonary dysplasia (BPD) is a prevalent chronic lung disease affecting premature infants, leading to long-term respiratory complications, hospital readmissions, and significant financial burden on families and the health care system. BPD is caused by lung injury, making it crucial to focus on methods to minimize lung injury and prevent the transition from respiratory distress syndrome to BPD by following evidence-based respiratory support strategies.
Purpose: This scoping review examines methods for weaning preterm infants off continuous positive airway pressure (CPAP) and evaluates their effectiveness in maintaining respiratory independence.
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