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Chiari Malformation Type I and Syringomyelia: Outcomes of Arachnoid-Preserving Surgical Technique.
Med Sci Monit
January 2025
Department of Neurosurgery, Istanbul Training and Research Hospital, Istanbul, Turkey.
BACKGROUND Chiari malformation type 1 occurs when the cerebellar tonsils are pushed into the spinal canal, which can result in syringomyelia. This retrospective study from a single center evaluated outcomes in 89 patients with Chiari malformation type-I (CM-I) and syringomyelia treated with an arachnoid-preserving technique between 2016 and 2023. MATERIAL AND METHODS A retrospective analysis was conducted at a tertiary referral center, involving 88 adult patients and 1 adolescent patient aged 14 to 61 years, with diagnosis by MRI and treated for CM-I with syringomyelia between 2016 and 2023, using the arachnoid-preserving technique.
View Article and Find Full Text PDFGiant encephalocele in newborns: prenatal diagnosis, management and outcome.
Childs Nerv Syst
January 2025
Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.
Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.
Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.
Regulation 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 PDFA Rare Case of Fetal Neural Tube Defect; Iniencephaly Clausus.
AJP Rep
July 2024
Department of Obstetrics and Gynecology, College of Medicine and Health Sciences, Bahir Dar University, Bahir Dar, Ethiopia.
Iniencephaly is an extremely rare type of neural tube defect characterized by the fusion of the cervical and cervicothoracic vertebrae. This condition results in acute retroflexion of the head, a short neck, significant lordosis of the cervical spine, and an upturned facial appearance. This condition typically results in poor fetal outcomes, with many cases ending in stillbirth or neonatal death.
View Article and Find Full Text PDFA patient with a PTPN11 gene variant complicated with Chiari I malformation and syringomyelia and a review of literatures.
Int J Dev Neurosci
February 2025
Department of Pediatric Neurology, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
Article Synopsis
- PTPN11 gene variants are linked to around 50% of Noonan syndrome and 85% of Leopard syndrome cases, with some patients showing associations with Chiari I malformation (CIM) and syringomyelia, though the nature of this relationship is debated.
- A clinical case was analyzed along with a genetic test on the patient and her family, revealing a specific PTPN11 variant (c. 922A>G) and leading to discussions about the possible connections between these conditions.
- The retrospective review identified six patients with NS or LS and a PTPN11 variant who also exhibited CIM or syringomyelia, highlighting a potential pattern that warrants further investigation.
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