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Multiple roles for retinoid signaling in craniofacial development.
Curr Top Dev Biol
January 2025
Department of Oral Immunology and Infectious Diseases, University of Louisville School of Dentistry, Louisville, KY, United States. Electronic address:
Retinoic acid (RA) signaling plays multiple essential roles in development of the head and face. Animal models with mutations in genes involved in RA signaling have enabled understanding of craniofacial morphogenic processes that are regulated by the retinoid pathway. During craniofacial morphogenesis RA signaling is active in spatially restricted domains defined by the expression of genes involved in RA production and RA breakdown.
View Article and Find Full Text PDFMachine learning approach for noninvasive intracranial pressure estimation using pulsatile cranial expansion waveforms.
NPJ Digit Med
January 2025
Nell Hodgson Woodruff School of Nursing, Emory University, Atlanta, GA, USA.
Noninvasive methods for intracranial pressure (ICP) monitoring have emerged, but none has successfully replaced invasive techniques. This observational study developed and tested a machine learning (ML) model to estimate ICP using waveforms from a cranial extensometer device (brain4care [B4C] System). The model explored multiple waveform parameters to optimize mean ICP estimation.
View Article and Find Full Text PDFKeyhole Mini-Pterional Craniotomy for Clipping of Bilateral Middle Cerebral Artery Aneurysms.
World Neurosurg
January 2025
Department of Neurological Surgery, St. John's Neuroscience Institute, Tulsa, OK. Electronic address:
Middle cerebral artery (MCA) aneurysms remain excellent candidates for microsurgical treatment, despite proliferation of new endovascular tools. Nonetheless, patients desire less invasive options for permanent, durable treatment of their aneurysms; this is particularly the case for those presenting without subarachnoid hemorrhage, and those with multiple aneurysms that may require several surgical approaches. Keyhole craniotomies, when properly utilized in well-selected patients, allow for minimally invasive treatment of both ruptured and unruptured cerebral aneurysms, including those harboring bilateral aneurysms which may be treated from a single approach.
View Article and Find Full Text PDFNeonatal Familiar Cleidocranial Dysplasia: A Case Report.
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFHydrolethalus Syndrome: A Case of a Rare Congenital Disorder.
Diagnostics (Basel)
January 2025
Department of Dentistry, Faculty of Dentistry, "Vasile Goldiș" Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania.
This is a fatal case of multiple complicated congenital anomalies displaying several symptoms consistent with hydrolethalus syndrome. The newborn's phenotype is characterized by a combination of serious anatomical abnormalities such as open-book cerebral hemispheres, defective lobulation of the lungs (one lobe on the left, two on the right), a smaller right kidney, a smooth cerebral surface, and a specific keyhole-shaped defect in the skull base, primarily associated with hydrocephalus.
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