Background: Basal meningoceles are rare congenital defects and often clinically occult until they result in life-threatening complications. Therefore, it is important to know the diagnostic clues to early diagnosis.
Case Presentation: We describe three cases of congenital basal meningocele in a 3-year-old Japanese boy, a 1-month-old Japanese baby boy, and a 10-month-old Japanese baby girl. One of our patients died of sepsis due to traumatic rupture of the meningocele during nasal suction. His meningocele remained undiagnosed until it resulted in the fatal complication. The other patients underwent surgical repair without any complications. Their meningoceles were complicated by midfacial anomalies including cleft palate and hypertelorism, or a sign of nasal obstruction such as snoring.
Conclusions: These clinical features may be a clue to the early diagnosis of congenital basal meningocele, which enables its safe preoperative management and provides an opportunity for surgical repair before the condition results in serious complications.
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http://dx.doi.org/10.1186/s13256-017-1497-7 | DOI Listing |
Pacing Clin Electrophysiol
December 2024
Heart Rhythm Centre, Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
The use of conduction system pacing (CSP) in adults with congenital heart disease (CHD) is growing, however data remain limited. In patients with congenitally corrected transposition of the great arteries following the double switch operation, existing CSP tools and techniques require modification to allow for the anterior displacement of the atrioventricular node and proximal conduction system in addition to navigating the tortuous route of the atrial redirection. We report the successful use of CSP focusing on the technique of delivery tool modification to allow stability on the basal septum for deployment to the area of the distal His bundle and proximal left bundle branch.
View Article and Find Full Text PDFiScience
December 2024
Department of Biological Sciences, Center for Stem Cells and Regenerative Medicine, Center for Zebrafish Research, Boler-Parseghian Center for Rare and Neglected Diseases, Warren Center for Drug Discovery, University of Notre Dame, Notre Dame, IN 46556, USA.
Cilia are hair-like organelles with vital physiological roles, and ciliogenesis defects underlie a range of severe congenital malformations and human diseases. Here, we report that is essential for cilia development across multiple embryonic tissues including the ear, neuromasts and Kupffer's vesicle (KV), which establishes left/right axial pattern. deficient embryos manifest altered fluid homeostasis and kidney defects including decreased multiciliated cells (MCCs), determining that is essential to properly establish several renal lineages.
View Article and Find Full Text PDFFront Cell Neurosci
November 2024
Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, United States.
Congenital ocular malformations originate from defective morphogenesis during early eye development and cause 25% of childhood blindness. Formation of the eye is a multi-step, dynamic process; it involves evagination of the optic vesicle, followed by distal and ventral invagination, leading to the formation of a two-layered optic cup with a transient optic fissure. These tissue folding events require extensive changes in cell shape and tissue growth mediated by cytoskeleton mechanics and intercellular adhesion.
View Article and Find Full Text PDFVet Pathol
December 2024
Universidade Federal da Bahia, Salvador, Brasil.
A congenital neurologic disorder affected a herd of Tabapuã cattle. Of 98 newborn calves, 12 (12%) were affected; they were sired by 3 related bulls. This frequency suggested a genetic disorder caused by an autosomal recessive gene.
View Article and Find Full Text PDFInt J Pediatr Otorhinolaryngol
November 2024
Department of Paediatric Otolaryngology, Robert Debre Hospital, Assistance Publique Hôpitaux de Paris (APHP), Paris Cité University, Paris, France; Center for Balance Evaluation in Children (EFEE), Department of Paediatric Otolaryngology, Robert Debre Hospital, Assistance Publique Hôpitaux de Paris (APHP), Paris Cité University, Paris, France.
Objectives: To describe the inner ear sectors after an inner ear MRI protocol and search for the presence of endolymphatic pressure anomaly in patients presenting with a congenital CMV infection and audio-vestibular dysfunction.
Methods: A 3D FLAIR MRI sequence, 4 h after gadolinium injection, was performed in patients with sensory-neural hearing loss secondary to a congenital CMV infection in order to analyse the morphology of the endolymphatic space.
Results: Two patients presented with a unilateral SNHL and 4 patients a bilateral SNHL.
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