Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5024837 | PMC |
| http://dx.doi.org/10.1002/j.2205-0140.2009.tb00059.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.
Ther Adv Respir Dis
January 2025
Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way NE, OC 7.730, Seattle, WA 98105, USA.
Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the "molar tooth sign" which involves the breathing control center and its connections with other structures. Literature has reported significant respiratory abnormalities which included hyperpnea interspersed with apneic episodes during wakefulness. Larger-scale studies looking at polysomnographic findings or subjective reports of sleep problems in this population have not yet been published.
View Article and Find Full Text PDFUnbalanced long-chain fatty acid beta-oxidation in newborns with cystic fibrosis and congenital hypothyroidism.
Mol Genet Metab Rep
March 2025
Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Background: Immediately after birth, adaptation to the extrauterine environment includes an upregulation of fatty acid catabolism. Cystic fibrosis and untreated hypothyroidism exert a life-long impact on fatty acid metabolism, but their influence during this transitional period is unknown. Children and adults with cystic fibrosis exhibit unbalanced fatty acid composition, most prominently a relative deficit of linoleic acid.
View Article and Find Full Text PDFAtypical mediastinal mass in the fetus: a review of the literature.
Arch Gynecol Obstet
January 2025
Department of Congenital Cardiac Surgery, IRCCS Policlinico San Donato, 20097, San Donato, Milan, Italy.
Objectives: Congenital thoracic masses (CTMs) are suspected in presence of solid or cystic thoracic lesions at ultrasound. The common typical fetal CTMs encompass: hyperechogenic lung lesions such as congenital pulmonary airway malformation (CPAM), broncopulmonary sequestration (PS) and congenital high airway obstruction syndrome (CHAOS); less common solid thoracic masses are mediastinal/pericardial tumors as rhabdomyoma and teratoma. The aim of our study is to gather the available evidence on cases of atypical CTMs of difficult classification, for which the diagnosis remains often uncertain.
View Article and Find Full Text PDFEndoscopic endonasal dacryocystectomy.
Am J Ophthalmol Case Rep
March 2025
Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, Hyderabad, India.
Purpose: To report an exceptionally rare instance of Endoscopic endonasal dacryocystectomy.
Observations: Dacryocystectomy (DCT), a procedure of surgical extirpation of the lacrimal sac is normally approached by an external route. However, an endoscopic endonasal approach DCT is rare and usually reserved in cases where intellectual disabilities of a patient become a restrictive factor in maintenance of a healthy external wound.
Duplication of the gallbladder: An intraoperative finding during laparoscopic cholecystectomy.
Int J Surg Case Rep
January 2025
University Surgical Unit, National Hospital of Sri Lanka, Colombo, Sri Lanka.
Introduction: Duplication of the gallbladder is a rare congenital malformation associated with the development of cholelithiasis. It increases the risk of iatrogenic bile duct injury during cholecystectomy and can lead to symptom recurrence if missed. Although preoperative imaging is helpful, detection rates are around 50 %.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!