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Identifying novel heterozygous PI4KA variants in fetal abnormalities.
BMC Med Genomics
January 2025
Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China.
Background: The clinical manifestations of PI4KA-related disorders are characterized by considerable variability, predominantly featuring neurological impairments, gastrointestinal symptoms, and a combined immunodeficiency. The aim of this study was to delineate the novel spectrum of PI4KA variants detected prenatally and to assess their influence on fetal development.
Methods: A thorough fetal ultrasound screening was conducted, supplemented by both antenatal and post-abortion magnetic resonance imaging (MRI) studies.
A new computational framework for simulating airway resistance, fraction of exhaled nitric oxide, and diffusing capacity for nitric oxide.
PLoS One
January 2025
Transfers, Interfaces and Processes, Université libre de Bruxelles, Brussels, Belgium.
In this paper, we present a new computational framework for the simulation of airway resistance, the fraction of exhaled nitric oxide, and the diffusion capacity for nitric oxide in healthy and unhealthy lungs. Our approach is firstly based on a realistic representation of the geometry of healthy lungs as a function of body mass, which compares well with data from the literature, particularly in terms of lung volume and alveolar surface area. The original way in which this geometry is created, including an individual definition of the airways in the first seven generations of the lungs, makes it possible to consider the heterogeneous nature of the lungs in terms of perfusion and ventilation.
View Article and Find Full Text PDFComment on "Near-Normalized Maxillomandibular Relationship and Upper Airway in Infants With Robin Sequence Treated With Stanford Orthodontic Airway Plate".
Cleft Palate Craniofac J
January 2025
Sleep Medicine, Stanford University, Stanford, CA, USA.
It's interesting to note that despite clinical improvements in upper airway dimensions, the maxillary, mandibular, and mandibular body lengths remained smaller than those of controls. This finding may represent an underlying neurocristopathy, which represents a deficiency in the population of neural crest cells available in the embryonic maxillary and mandibular processes de novo. Indeed, it is known that craniofacial dimensions in infants with malformations, such as cleft palate, are often smaller when compared to non-cleft counterparts.
View Article and Find Full Text PDFEctopic thyroid tissue in the airway: a case report.
BMC Pulm Med
January 2025
Department of Respiratory Medicine, The Second Hospital of Jilin University, No. 4026 Yatai street, Changchun, 130041, Jilin, China.
Background: Ectopic thyroid tissue (ETT) is a rare congenital anomaly caused by the abnormal embryonic migration of thyroid tissue, leading to its presence outside its usual pretracheal location. This condition can lead to diagnostic challenges, especially when located within the airway, as it mimics other respiratory disorders such as asthma.
Case Presentation: We report the case of a 69-year-old man with endotracheal ETT presenting with severe dyspnea, and the lesion was initially suspected to be malignant.
Epiphora associated with anomalies of the distal end of the nasolacrimal duct in children over 12 months: endoscopic findings and treatment.
Arq Bras Oftalmol
January 2025
Department of Ophthalmology, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil.
Purpose: Congenital epiphora can be related to anomalies of the nasolacrimal duct. This study aimed to assess the distal end of the nasolacrimal duct and the outcomes of endoscopic treatment in children older than 12 months with congenital epiphora.
Methods: This retrospective analysis describes the clinical characteristics, management, and outcomes of symptomatic congenital lacrimal obstruction in 32 lacrimal systems of 23 children.
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