Tethered cord syndrome (TCS) is a type of occult spinal dysraphism that may lead to permanent neurologic and orthopedic deficits. Infants with TCS may have lumbosacral cutaneous malformations (LsCMs). We studied 67 infants referred to a single pediatric urology practice for a urological concern unrelated to occult spinal dysraphism with no prior diagnosis of LsCM between March 1, 2015 and September 30, 2018. Each infant underwent a spinal ultrasound. If an abnormality was detected, they were referred to a pediatric neurosurgeon. The most common cutaneous manifestations were duplicated or bifurcated (46%) gluteal folds and gluteal asymmetry (16%). Fourteen (21%) of the 67 patients had an abnormal spinal ultrasound; 5 of the 14 infants underwent a lumbar magnetic resonance imaging. One infant had urodynamics studies and a tethered cord release. Pediatricians should be familiar with TCS and perform lumbar physical examinations for LsCMs suggestive of TCS to ensure prompt diagnosis and management and avoid potentially devastating complications.
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http://dx.doi.org/10.1177/2333794X19851419 | DOI Listing |
Cureus
December 2024
Obstetrics and Gynecology, Shalamar Medical and Dental College, Lahore, PAK.
Introduction Congenital malformations are a major cause of perinatal morbidity and mortality in developing countries and are assuming greater importance than ever before. They affect a variety of organ systems and various etiologies have been identified in literature including Toxoplasmosis, Other (syphilis, varicella-zoster, parvovirus B19), Rubella, Cytomegalovirus, Herpes Simplex (TORCH) infections, exposure to pollutants, consumption of tobacco and alcohol, and advanced maternal age. In developing countries, diagnosis is frequently delayed which leads to poorer outcomes.
View Article and Find Full Text PDFToxics
January 2025
Faculdades Pequeno Príncipe Av Iguaçu, 333, 80230-020 Curitiba, Paraná, Brazil.
Neural tube defects (NTDs) are the second most common congenital anomaly and have been widely associated with exposure to pesticides. This systematic review which analyzes the association between parental exposure to pesticides and NTDs was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. The search strategy was designed considering the population, exposure, controls, outcomes, and study design (PECOS).
View Article and Find Full Text PDFG3 (Bethesda)
January 2025
Department of Cell and Systems Biology, University of Toronto, Toronto, Ontario, M5S3G5, Canada.
Sex-determining region Y box 2 (Sox2) is a critical transcription factor for embryogenesis and neural stem and progenitor cell (NSPC) maintenance. While distal enhancers control Sox2 in embryonic stem cells (ESCs), enhancers closer to the gene are implicated in Sox2 transcriptional regulation in neural development. We hypothesize that a downstream enhancer cluster, termed Sox2 regulatory regions 2-18 (SRR2-18), regulates Sox2 transcription in neural stem cells and we investigate this in NSPCs derived from mouse ESCs.
View Article and Find Full Text PDFMatern Child Health J
January 2025
Tanzania Field Epidemiology and Laboratory Training Program, Tanzania Ministry of Health, Dodoma, Tanzania.
Introduction: Population risk for neural tube defects (NTDs) can be determined using red blood cell (RBC) folate. However, a paucity of biomarker and surveillance data among non-lactating, non-pregnant women of reproductive age (NPWRA) from Africa limits accurate assessment. Our study assessed folate and vitamin B12 status among non-lactating NPWRA and predicted population risk of NTDs in Tanzania.
View Article and Find Full Text PDFCase Rep Surg
January 2025
Department of General Surgery, Kilimanjaro Christian Medical Centre, Moshi PO Box 3010, Tanzania.
Meningomyelocele and meningocele are types of neural tube defects, which are congenital abnormalities of the spine and spinal cord. These conditions are frequently encountered by pediatric neurosurgeons worldwide and represent a significant public health concern due to their association with a range of collateral conditions, other malformations, and increased morbidity. While many cases can be identified during prenatal ultrasound screenings, this is often challenging in resource-limited settings with poor health-seeking behaviors.
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