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Frontal Paraventricular Cysts: Refined Definitions and Outcomes.
AJNR Am J Neuroradiol
January 2025
From the Division of Neuroradiology, Department of Radiology (M.T.W., A.M., C.A.P.F.A., O.S, E.S.S.), and Department of Obstetrics and Gynecology (N.K.), Children's Hospital of Philadelphia, Philadelphia, PA, USA; Perelman School of Medicine (M.T.W., N.K., E.S.S.), Philadelphia, PA, USA; Division of Neuroradiology, Department of Radiology (C.A.P.F.A), Boston Children's Hospital, Boston, MA, USA; and Harvard Medical School (C.A.P.F.A), Boston, MA, USA.
Background And Purpose: Frontal paraventricular cystic changes have a varied etiology that includes connatal cysts, subependymal pseudocysts, necrosis, and enlarged perivascular spaces. These may be difficult to distinguish by neuroimaging and have a variety of associated prognoses. We aim to refine the neuroimaging definition of frontal horn cysts and correlate it with adverse clinical conditions.
View Article and Find Full Text PDFDifferentiating Cystic Lesions in the Sellar Region of the Brain Using Artificial Intelligence and Machine Learning for Early Diagnosis: A Prospective Review of the Novel Diagnostic Modalities.
Cureus
December 2024
Department of Technology and Clinical Trials, Advanced Research, Deerfield Beach, USA.
This paper investigates the potential of artificial intelligence (AI) and machine learning (ML) to enhance the differentiation of cystic lesions in the sellar region, such as pituitary adenomas, Rathke cleft cysts (RCCs) and craniopharyngiomas (CP), through the use of advanced neuroimaging techniques, particularly magnetic resonance imaging (MRI). The goal is to explore how AI-driven models, including convolutional neural networks (CNNs), deep learning, and ensemble methods, can overcome the limitations of traditional diagnostic approaches, providing more accurate and early differentiation of these lesions. The review incorporates findings from critical studies, such as using the Open Access Series of Imaging Studies (OASIS) dataset (Kaggle, San Francisco, USA) for MRI-based brain research, highlighting the significance of statistical rigor and automated segmentation in developing reliable AI models.
View Article and Find Full Text PDFRegulation of INPP5E in Ciliogenesis, Development, and Disease.
Int J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
View Article and Find Full Text PDFTwo Novel Biallelic Variants in the Gene: The First Italian Case and a Literature Review.
Genes (Basel)
December 2024
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
: The gene encodes for the catalytic α subunit of Cytoplasmic phenylalanine-tRNA synthetase (FARS1), an essential enzyme for protein biosynthesis in transferring its amino acid component to tRNAs. Biallelic pathogenic variants have been associated with a multisystemic condition, characterized by variable expressivity and incomplete penetrance. Here, we report the case of an 11 year-old girl presenting interstitial lung disease, supratentorial leukoencephalopathy with brain cysts, hepatic dysfunction, hypoalbuminemia, skin and joint hyperlaxity, growth retardation, and dysmorphic features.
View Article and Find Full Text PDFChallenges in intraoperative differentiation of craniopharyngioma and Rathke cleft cyst on endoscopic visualization.
J Clin Neurosci
January 2025
Department of Neurosurgery, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Background: Craniopharyngiomas are epithelial tumors derived from the remnants of the Rathke pouch, while Rathke cleft cysts (RCC) are benign cystic lesions originating from the Rathke pouch itself [1]. Rathke cleft cysts comprise 10-15% of the hypophyseal tumors, while craniopharyngiomas are relatively rare, comprising only 2-5% of intracranial tumors [2]. Both located in the sellar and parasellar regions and share clinical symptoms including headache, visual disturbances, and endocrine dysfunction [3].
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