Browsing by Subject "Neural tube defects"

Now showing 1 - 4 of 4
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    Central precocious puberty in spina bifida children: Guidelines for the care of people with spina bifida
    (IOS Press, 2020) Almutlaq, Nourah; O’Neil, Joseph; Fuqua, John S.; Pediatrics, School of Medicine
    Children with spina bifida are at greater risk of developing central precocious puberty (CPP) compared to others. Therefore, early recognition and timely referral for further evaluation by a pediatric endocrinologist allows appropriate management that reduces the impact of CPP. This article discusses the diagnosis and management of CPP in children with spina bifida. This guideline was developed for SB Transition Healthcare Guidelines from the 2018 Spina Bifida Association's Fourth Edition of the Guidelines for the Care of People with Spina Bifida.
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    Loss of Zic3 impairs planar cell polarity leading to abnormal left-right signaling, heart defects and neural tube defects
    (Oxford University Press, 2021) Bellchambers, Helen M.; Ware, Stephanie M.; Pediatrics, School of Medicine
    Loss of function of ZIC3 causes heterotaxy (OMIM #306955), a disorder characterized by organ laterality defects including complex heart defects. Studies using Zic3 mutant mice have demonstrated that loss of Zic3 causes heterotaxy due to defects in establishment of left-right (LR) signaling, but the mechanistic basis for these defects remains unknown. Here, we demonstrate Zic3 null mice undergo cilia positioning defects at the embryonic node consistent with impaired planar cell polarity (PCP). Cell-based assays demonstrate that ZIC3 must enter the nucleus to regulate PCP and identify multiple critical ZIC3 domains required for regulation of PCP signaling. Furthermore, we show that Zic3 displays a genetic interaction with the PCP membrane protein Vangl2 and the PCP effector genes Rac1 and Daam1 resulting in increased frequency and severity of neural tube and heart defects. Gene and protein expression analyses indicate that Zic3 null embryos display disrupted expression of PCP components and reduced phosphorylation of the core PCP protein DVL2 at the time of LR axis determination. These results demonstrate that ZIC3 interacts with PCP signaling during early development, identifying a novel role for this transcription factor, and adding additional evidence about the importance of PCP function for normal LR patterning and subsequent heart development.
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    Prenatal Surgery for Open Fetal Spina Bifida in Patients with Obesity: A Review of Current Evidence and Future Directions
    (MDPI, 2024-09-24) Bonanni, Giulia; Zargarzadeh, Nikan; Krispin, Eyal; Northam, Weston T.; Bevilacqua, Elisa; Mustafa, Hiba J.; Shamshirsaz, Alireza A.; Obstetrics and Gynecology, School of Medicine
    Background: Obesity rates have significantly increased globally, affecting up to 40% of women of childbearing age in the United States. While prenatal repair of open fetal spina bifida has shown improved outcomes, most fetal surgery centers exclude patients with a body mass index (BMI) ≥ 35 kg/m2 based on criteria from the Management of Myelomeningocele Study (MOMS) trial. This exclusion raises concerns about healthcare equity and highlights a significant knowledge gap regarding the safety and efficacy of fetal spina bifida repair in patients with obesity. Objective: To review the current state of knowledge regarding open fetal surgery for fetal spina bifida in patients with obesity, focusing on safety, efficacy, and clinical considerations. Methods: A comprehensive literature search was conducted using the PubMed and EMBASE databases, covering articles from the inception of the databases to April 2024. Studies discussing fetal surgery for neural tube defects and documenting BMI measurements and their impact on surgical outcomes, published in peer-reviewed journals, and available in English were included. Quantitative data were extracted into an Excel sheet, and data synthesis was conducted using the R programming language (version 4.3.3). Results: Three retrospective studies examining outcomes of prenatal open spina bifida repair in a total of 43 patients with a BMI ≥ 35 kg/m2 were identified. These studies did not report significant adverse maternal or fetal outcomes compared to patients with lower BMIs. Our pooled analysis revealed a perinatal mortality rate of 6.1% (95% CI: 1.76-18.92%), with 28.0% (95% CI: 14.0-48.2%) experiencing the premature rupture of membranes and 82.0% (95% CI: 29.2-98.0%) delivering preterm (<37 weeks). Membrane separation was reported in 10.3% of cases (95% CI: 3.3-27.7%), the mean gestational age at birth was 34.3 weeks (95% CI: 32.3-36.3), and the average birth weight was 2651.5 g (95% CI: 2473.7-2829.4). Additionally, 40.1% (95% CI: 23.1-60.0%) required a ventriculoperitoneal shunt. Conclusion: While current evidence suggests that fetal spina bifida repair may be feasible in patients with obesity, significant limitations in the existing body of research were identified. These include small sample sizes, retrospective designs, and a lack of long-term follow-up data. There is an urgent need for large-scale, prospective, multicenter studies to definitively establish the safety and efficacy of fetal spina bifida repair in patients with obesity. Such research is crucial for developing evidence-based guidelines, improving clinical outcomes, and addressing healthcare disparities in this growing patient population with obesity.
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    Short stature and the effect of human growth hormone: Guidelines for the care of people with spina bifida
    (IOS Press, 2020) O'Neil, Joseph; Fuqua, John S.; Pediatrics, School of Medicine
    It is estimated that a significant percentage of individuals with spina bifida (SB) are shorter than their age-matched typical peers. Parents of children with spina bifida may ask if human growth hormone is appropriate for their child. This article discusses short stature and the use of human growth hormone among children with SB. This guideline was developed for SB Healthcare Guidelines from the 2018 Spina Bifida Association's Fourth Edition of the Guidelines for the Care of People with Spina Bifida.