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Frontiers in Genetics 2020Notch (Notch1 through 4) are transmembrane receptors that determine cell differentiation and function, and are activated following interactions with ligands of the... (Review)
Review
Notch (Notch1 through 4) are transmembrane receptors that determine cell differentiation and function, and are activated following interactions with ligands of the Jagged and Delta-like families. Notch has been established as a signaling pathway that plays a critical role in the differentiation and function of cells of the osteoblast and osteoclast lineages as well as in skeletal development and bone remodeling. Pathogenic variants of Notch receptors and their ligands are associated with a variety of genetic disorders presenting with significant craniofacial and skeletal manifestations. Lateral Meningocele Syndrome (LMS) is a rare genetic disorder characterized by neurological manifestations, meningoceles, skeletal developmental abnormalities and bone loss. LMS is associated with NOTCH3 gain-of-function pathogenic variants. Experimental mouse models of LMS revealed that the bone loss is secondary to increased osteoclastogenesis due to enhanced expression of receptor activator of nuclear factor kappa B ligand by cells of the osteoblast lineage. There are no effective therapies for LMS. Antisense oligonucleotides targeting and antibodies that prevent the activation of NOTCH3 are being tested in preclinical models of the disease. In conclusion, LMS is a serious genetic disorder associated with NOTCH3 pathogenic variants. Novel experimental models have offered insight on mechanisms responsible and ways to correct the disease.
PubMed: 33519922
DOI: 10.3389/fgene.2020.620334 -
Journal of Medical Ultrasound 2024Prenatal diagnosis of myelomeningocele remains challenging for obstetricians, ultrasonographers, and radiologists, although the increased maternal serum... (Review)
Review
Prenatal diagnosis of myelomeningocele remains challenging for obstetricians, ultrasonographers, and radiologists, although the increased maternal serum alpha-fetoprotein level aids in the confirmative diagnosis. Fetal cervical myelomeningocele and meningocele are very rare and unique types of myelomeningocele. Prenatal diagnosis of cervical myelomeningocele and meningocele should include the differential diagnosis and association of many intracranial and spino-skeletal pathogenetic variants and genetic diseases, including subependymal nodular heterotopia and Klippel-Feil syndrome. In this report, a comprehensive review of fetal cervical myelomeningocele with its prenatal diagnosis and long-term outcomes is presented.
PubMed: 38665341
DOI: 10.4103/jmu.jmu_51_23 -
Development (Cambridge, England) May 2017Notch signaling regulates a vast array of crucial developmental processes. It is therefore not surprising that mutations in genes encoding Notch receptors or ligands... (Review)
Review
Notch signaling regulates a vast array of crucial developmental processes. It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in humans. For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and congenital heart disorders, while Notch gain of function results in Hajdu-Cheney syndrome, serpentine fibula polycystic kidney syndrome, infantile myofibromatosis and lateral meningocele syndrome. Furthermore, structure-abrogating mutations in result in CADASIL. Here, we discuss these human congenital disorders in the context of known roles for Notch signaling during development. Drawing on recent analyses by the exome aggregation consortium (EXAC) and on recent studies of Notch signaling in model organisms, we further highlight additional Notch receptors or ligands that are likely to be involved in human genetic diseases.
Topics: Abnormalities, Multiple; Alagille Syndrome; Animals; Developmental Biology; Ectodermal Dysplasia; Genetic Diseases, Inborn; Hajdu-Cheney Syndrome; Hernia, Diaphragmatic; Humans; Limb Deformities, Congenital; Meningocele; Receptors, Notch; Scalp Dermatoses
PubMed: 28512196
DOI: 10.1242/dev.148007 -
European Annals of Otorhinolaryngology,... Jun 2016Nasal obstruction is a very frequent symptom in children, with numerous etiologies. Clinical diagnosis is straightforward, but general impact and rare etiologies should... (Review)
Review
Nasal obstruction is a very frequent symptom in children, with numerous etiologies. Clinical diagnosis is straightforward, but general impact and rare etiologies should be explored for. Complementary examinations are guided by diagnostic orientation. Although not usually a severe condition, nasal obstruction may be life-threatening in neonates and infants. An exhaustive list of etiologies is impossible and would not be useful, but it is worth distinguishing infantile nasal obstruction and nasal obstruction in older children, as causes differ greatly. This is the topic of the present update.
Topics: Adenoids; Child; Craniofacial Abnormalities; Foreign Bodies; Humans; Hypertrophy; Meningocele; Nasal Obstruction; Nasal Polyps; Nasal Septum; Nose Neoplasms; Rhinitis; Teratoma
PubMed: 26471039
DOI: 10.1016/j.anorl.2015.09.011 -
Current Problems in Diagnostic Radiology 2015Presence of a cyst or a cystic component in an intraorbital mass often narrows the list of differential diagnoses to specific entities. Such a lesion in the orbit may... (Review)
Review
Presence of a cyst or a cystic component in an intraorbital mass often narrows the list of differential diagnoses to specific entities. Such a lesion in the orbit may arise from structures within the orbit, globe, and lacrimal system or from neighboring paranasal sinuses or meninges. Common congenital and developmental lesions encountered within the orbit include dermoids and epidermoids, and infrequently coloboma. Parasitic cysts (cysticercus), orbital abscess, mucocele, and vascular lesions are the most common acquired pathologies giving rise to fluid-containing lesions within the orbit. The role of a radiologist is crucial in expediting the diagnosis of orbital lesions with the help of characteristic imaging features on ultrasound, computed tomography, or magnetic resonance imaging. It also helps in identifying complications in others where formulation of an early and effective management strategy is vital for preserving vision.
Topics: Abscess; Adult; Child; Child, Preschool; Choristoma; Coloboma; Conjunctival Diseases; Cysticercosis; Cysts; Echinococcosis; Female; Humans; Lacrimal Apparatus; Lymphangioma; Magnetic Resonance Imaging; Male; Meningocele; Mucocele; Neoplasms, Germ Cell and Embryonal; Orbital Diseases; Tomography, X-Ray Computed; Varicose Veins; Young Adult
PubMed: 25908230
DOI: 10.1067/j.cpradiol.2015.03.003 -
Neurology India 2018
Topics: Adult; Encephalocele; Female; Fetus; Gestational Age; Humans; Magnetic Resonance Imaging; Meningocele; Spinal Canal; Ultrasonography, Prenatal
PubMed: 29766970
DOI: 10.4103/0028-3886.232299 -
Global Pediatric Health 2023Meningocele is a rare congenital malformation of the central nervous system resulting from a herniation of the meninges containing cerebrospinal fluid through a bony...
Meningocele is a rare congenital malformation of the central nervous system resulting from a herniation of the meninges containing cerebrospinal fluid through a bony defect in the skull. It is part of neural tube closure anomalies. The overall incidence of meningocele is 0.8 to 3 per 10 000 live births; it varies based on geographical location and race, with a predominance of occipital localization. Among diagnostic methods, computed tomography (CT) and magnetic resonance imaging (MRI) remain crucial examinations. Prenatal diagnosis of this malformation primarily relies on ultrasound and screening through maternal serum alpha-fetoprotein (AFP) levels. They typically manifest very early at birth with a highly suggestive radioclinical presentation. Surgical treatment usually allows for a definitive cure. Superinfection and rupture of the meningocele are exceptional, resulting from delayed diagnosis and management. In several developed countries, prevention through genetic counseling and the intake of folic acid during the periconceptional period, along with accurate prenatal diagnosis and the legalization of therapeutic abortion, has led to a decrease in the prevalence of meningoceles. In less developed countries, where there is a delay in diagnosis in exceptional cases, superinfection and rupture may occur. We present the case of an 8-month-old infant with a complicated occipital meningocele with superinfection and rupture.
PubMed: 37846398
DOI: 10.1177/2333794X231204498 -
Cureus Feb 2023The sphenoethmoidal meningocele is a herniation of the meninges through a communication of the skull base with an aeric cavity. It means the presence of an...
The sphenoethmoidal meningocele is a herniation of the meninges through a communication of the skull base with an aeric cavity. It means the presence of an osteomeningeal breach, which is manifested by cerebrospinal rhinorrhea and nasal obstruction. iIs diagnosis is based on a very specific radiological assessment and biology allows the dosage of certain substances to confirm the nature of the cerebrospinal fluid, such as beta-2-transferrin, Once the breach has been found, the endoscopic route exclusively allows the pathology to be treated and the defect to be reconstructed using different materials before the occurrence of serious complications such as meningitis.
PubMed: 36938298
DOI: 10.7759/cureus.35022 -
Laryngo- Rhino- Otologie Aug 2018
Topics: Adult; Cochlear Implants; Diagnosis, Differential; Encephalocele; Headache; Humans; Magnetic Resonance Imaging; Male; Mastoid; Meningocele; Sphenoid Sinus; Tomography, X-Ray Computed
PubMed: 29444531
DOI: 10.1055/s-0044-100516 -
BMJ Case Reports May 2017
Topics: Humans; Magnetic Resonance Imaging; Male; Meningocele; Middle Aged; Sciatica; Spinal Dysraphism
PubMed: 28478392
DOI: 10.1136/bcr-2017-220213