Objective: To investigate the patterns and associated malformations in neural tube defects (NTDs) cases.
Methods: From 1987 to 1995, hospital-based cluster sampling method was adopted for collecting data. During that period all live or still births with 28 weeks of gestation or more were assessed within 7 days after delivery.
Results: Three thousand seven hundred and ninety eight syndromic NTDs were identified, among which anencephaly, spina bifida and encephalocele were 997, 2394 and 407 respectively. 51.3% associated abnormalities of NTDs appeared in muscle and skeletal system, 19.6% in face, ear and neck, and 9.3% in urinary-genital system. Congenital talipes equinovarus, cleft lip with cleft palate, gastroschisis, talipes valgus, undescended testicle were frequently combined with NTDs. The most frequent association in schisis type of NTDs was NTDs accompanied by cleft lip with or without cleft palate (67.5%), followed by anencephaly with cleft palate (8.3%) and anencephaly with omphalocele (6.6%). Of all syndromic NTDs, the rate of low birth weight was 36.9%, of perinatal mortality was 71.2% and the ratio 33.1% patients were diagnosed prenatally.
Conclusions: Approximately one third of NTDs may be associated with other system's malformation. Syndromic NTDs has a high perinatal mortality rate and a poor prognosis.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Prostaglandins Differentially Regulate the Constitutive and Mechanosensitive Release of Soluble Nucleotidases in the Urinary Bladder Mucosa.
Int J Mol Sci
December 2024
Department of Physiology and Cell Biology, School of Medicine, University of Nevada Reno, Reno, NV 89557, USA.
The urothelium and lamina propria (LP) contribute to sensations of bladder fullness by releasing multiple mediators, including prostaglandins (PGs) and adenosine 5'-triphosphate (ATP), that activate or modulate functions of cells throughout the bladder wall. Mediators that are simultaneously released in response to bladder distention likely influence each other's mechanisms of release and action. This study investigated whether PGs could alter the extracellular hydrolysis of ATP by soluble nucleotidases (s-NTDs) released in the LP of nondistended or distended bladders.
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 PDFSurgical outcomes of tethered cord syndrome in patients with normal conus medullaris and filum terminale without urologic symptoms.
Childs Nerv Syst
December 2024
Department of Neurosurgery, Izmir Tinaztepe University, Faculty of Medicine, Izmir, Turkey.
Article Synopsis
- Tethered cord syndrome (TCS) can present without typical urologic symptoms, even when MRI shows a normal appearance of the conus medullaris and filum terminale.
- A study of 59 TCS patients who underwent surgery (flavotomy) revealed no new urinary incontinence cases during a follow-up period, despite a significant number showing preoperative SSEP abnormalities.
- The findings suggest early surgical intervention may prevent future urologic issues, highlighting the need for SSEP testing in diagnosing TCS, even when imaging appears normal.
A 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.
A rare case of split notochord syndrome with neurenteric cyst: clinical challenges, surgical approach, and literature review.
Childs Nerv Syst
December 2024
Division of Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Split notochord syndrome (SNS) is a rare congenital anomaly characterized by incomplete midline notochordal integration during gastrulation, leading to segmental clefts of the spine. This case report describes a female patient with symptomatic cervico-dorsal SNS associated with a neurenteric cyst (NEC), intrathoracic gut duplication, and secondary hydrocephalus. Multistep surgical interventions were performed, including hydrocephalus management, excision of the cyst and gut duplication, and detethering with sectioning of the filum.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!