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Breaking Left-Right Symmetry by the Interplay of Planar Cell Polarity, Calcium Signaling and Cilia.
Cells
December 2024
Laboratoire de Biologie du Développement, LBD, CNRS UMR7622, INSERM U1156, Sorbonne Université, F-75005 Paris, France.
The formation of the embryonic left-right axis is a fundamental process in animals, which subsequently conditions both the shape and the correct positioning of internal organs. During vertebrate early development, a transient structure, known as the left-right organizer, breaks the bilateral symmetry in a manner that is critically dependent on the activity of motile and immotile cilia or asymmetric cell migration. Extensive studies have partially elucidated the molecular pathways that initiate left-right asymmetric patterning and morphogenesis.
View Article and Find Full Text PDFOutcome of Neonatal Hydronephrosis, a New Cut-Off to Identify Patients with Spontaneous Resolution.
Children (Basel)
November 2024
Department of Pediatrics, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy.
Background/objectives: The anteroposterior renal pelvis diameter (APRPD) is used to assess the grade of urinary tract dilatation (UTD). There is no univocal method stratifying the risk of complications related to postnatal UTD. This study aims to identify APRPD cut-offs at birth to determine outcome stratification and second-level exams.
View Article and Find Full Text PDFNext-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.
Biomedicines
November 2024
Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Hearing loss (HL) is the most common disorder in newborns with a highly heterogeneous genetic background. Despite significant progress in screening and identifying genes related to congenital hearing loss, there are still candidate genes implicated in HL that remain undiscovered. We investigated HL in 43 Chinese families by segregating bilateral sensorineural HL via whole-exome sequencing (WES) and Sanger sequencing.
View Article and Find Full Text PDFMisleading Imaging Findings: Bilateral Mylohyoid Defect Presenting as a Submandibular Mass Due to Sublingual Gland Protrusion.
Diagnostics (Basel)
December 2024
Institute of Diagnostic Radiology, Pauls Stradins Clinical University Hospital, LV-1002 Riga, Latvia.
Background/objectives: The muscular base of the oral cavity is formed of the mylohyoid muscle, which forms a sling inferior to the tongue. The muscle is often discontinuous, and defects may include salivary tissues, fat, and/or blood vessels. Hypertrophic sublingual glands located in mylohyoid defects can be herniated into bilateral submandibular spaces and present as palpable masses.
View Article and Find Full Text PDFThe utility of renal sonographic measurements in differentiating children with grades 2, 3, and 4 hydronephrosis.
J Pediatr Urol
December 2024
Department of Urology, University of Iowa, Iowa City, IA, 52242, USA. Electronic address:
Introduction: Prior analysis of children with grade 3 and 4 congenital hydronephrosis demonstrated that renal medullary pyramidal thickness (PT) is predictive of subsequent pyeloplasty (area under the curve [AUC] = 0.78). The objective of this study was to further analyze the utility of sonographic measurements including PT, anteroposterior pelvic diameter (APD), and renal length with an expansion of the number of infants with hydronephrotic kidneys including grades 2, 3, and 4 hydronephrosis.
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