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open spina bifida

Gregory G Heuer, Julie S Moldenhauer, N Scott Adzick
Open spina bifida or myelomeningocele (MMC) is one of the most common serious congenital malformations. Historically, this condition has been treated with closure of the MMC defect shortly after birth. The goal of postnatal closure is to cover the exposed spinal cord and prevent infection. However, postnatal surgery does not reverse or prevent the neurologic injury seen in MMC, reverse hindbrain herniation, or prevent hydrocephalus. The neurologic defects result from primary incomplete neurulation and secondary chronic prenatal damage to the exposed neural elements through mechanical and chemical trauma...
May 17, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
César Meller, Horacio Aiello, Lucas Otaño
In the beginnings, sonographic diagnosis of open spina bifida (OSB) relied on the meticulous scanning of the fetal vertebrae for abnormalities but many defects were missed. After the mid-1980s, however, with the description of the intracranial findings in the second trimester (the "lemon sign" and the "banana sign"), the prenatal diagnosis of OSB was enhanced. In the last 2 decades, there has been widespread uptake of routine ultrasound examination in the first trimester of pregnancy with the purpose of the measurement of fetal crown-rump length to determine gestational age, to screen for trisomy 21 and other aneuploidies, mainly with the nuchal translucency, and for diagnosis of many major abnormalities...
May 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Emmanuel Spaggiari, Sophie Dreux, Julien J Stirnemann, Isabelle Czerkiewicz, Véronique Houfflin-Debarge, Alexandra Segonne, Jean-Marie Jouannic, Yves Ville, Francoise Muller
OBJECTIVES: Shifting screening for trisomy 21 to the first trimester has resulted in the loss of MSAFP screening for spina bifida. The aim of this study was to study the impact on open spina bifida prenatal screening. STUDY DESIGN: We reviewed prenatally diagnosed cases of spina bifida over three years: 2009 (only second-trimester screening, MSM2T), 2010 (transient period) and 2011 (majority first-trimester screening, MSM1T). Cases were assigned to three groups based on maternal serum markers (MSM2T, MSM1T and "not performed")...
April 28, 2017: Prenatal Diagnosis
Semir Kose, Sabahattin Altunyurt, Pembe Keskinoglu
To test three measurements; brain stem (BS), intracranial translucency (IT) and brain stem to occipital bone distance (BSOB), as well as one landmark; cisterna magna (CM) visibility, for early diagnosis of open spina bifida (OSB) in a low risk population. A prospective observational study was undertaken in a university hospital. A sample of 1479 women consented to participate between 20 September 2013 and 30 June 2015. Measurements were performed from the mid-sagittal view, as is routinely used for nuchal thickness assessment...
April 5, 2017: Congenital Anomalies
Michael A Belfort, William E Whitehead, Alireza A Shamshirsaz, Zhoobin H Bateni, Oluyinka O Olutoye, Olutoyin A Olutoye, David G Mann, Jimmy Espinoza, Erin Williams, Timothy C Lee, Sundeep G Keswani, Nancy Ayres, Christopher I Cassady, Amy R Mehollin-Ray, Magdalena Sanz Cortes, Elena Carreras, Jose L Peiro, Rodrigo Ruano, Darrell L Cass
OBJECTIVE: To describe development of a two-port fetoscopic technique for spina bifida repair in the exteriorized, carbon dioxide-filled uterus and report early results of two cohorts of patients: the first 15 treated with an iterative technique and the latter 13 with a standardized technique. METHODS: This was a retrospective cohort study (2014-2016). All patients met Management of Myelomeningocele Study selection criteria. The intraoperative approach was iterative in the first 15 patients and was then standardized...
April 2017: Obstetrics and Gynecology
P Martinez-Ten, T Illescas, B Adiego, M Estevez, C Bermejo, A E Wong, W Sepulveda
OBJECTIVE: To assess non-visualization of the choroid plexus of the fourth ventricle (CP-IVV) as a simple, qualitative, and reproducible first-trimester ultrasound feature of the posterior fossa that predicts brain anomalies and chromosomal defects. METHODS: Three-dimensional (3D) ultrasound datasets of the fetal brain were prospectively obtained from 65 consecutive singleton, normal first-trimester fetuses and retrospectively from 27 fetuses identified as having an abnormal fetal posterior fossa on the first-trimester scan, which were randomly included in the final study group...
February 25, 2017: Ultrasound in Obstetrics & Gynecology
Ahmed I Marwan, Sarah M Williams, James R Bardill, Jane Gralla, Noraishah M Abdul-Aziz, Daewon Park
Current state-of-the-art management of open spina bifida defects entails an open fetal surgery approach associated with significant morbidities. In an attempt to reduce these risks and provide for an earlier minimally invasive repair, it is aimed to develop and characterize an innovative alternative using a unique reverse thermal gel. This study focuses on characterization of the physical and biological properties of the polymer and its in vivo applicability. Based on the knowledge and benchmarking, the "ideal" biomaterial should have the following characteristics: stability in amniotic fluid, limited permeability, biocompatibility, biologically functional, nontoxic, ability to support cellular functions, and in vivo applicability...
January 30, 2017: Macromolecular Bioscience
Konrad M Szymanski, Mark P Cain, Thomas J Hardacker, Rosalia Misseri
INTRODUCTION: Rates of successful transition from adolescent to adult spina bifida (SB) care are unknown. OBJECTIVE: We aimed to assess rates and predictors of successful transition from a multidisciplinary SB clinic to a transitional urology clinic (TUC), or a pediatric or adult urologist. STUDY DESIGN: We retrospectively reviewed patients discharged from a multidisciplinary SB clinic (2006-2012), collecting demographic and clinical data...
February 2017: Journal of Pediatric Urology
Alessandra Gasior, Giulia Brisighelli, Karen Diefenbach, Victoria Alison Lane, Carlos Reck, Richard J Wood, Marc Levitt
Introduction Functional constipation is a common problem in children. It usually can be managed with laxatives but a small subset of patients develop intolerable cramps and need to be temporarily treated with enemas. The senior author has previously reported: 1) open sigmoid resection as a surgical option, but this did not sufficiently reduce the laxative need, then 2) a transanal approach (with resection of rectosigmoid), but this led to a high rate of soiling due to extensive stretching of the anal canal and loss of the rectal reservoir...
October 25, 2016: European Journal of Pediatric Surgery
Annah Lane, Ling Lee, Donna Traves, Andreas Lee
INTRODUCTION: The antenatal diagnosis of open spina bifida (OSB), a neural tube defect, is predominantly made at the second trimester morphology scan by ultrasound detection of structural abnormalities resulting from the associated Chiari II malformation. Evidence has emerged suggesting that these structural abnormalities can be detected earlier, by examination of the posterior fossa as part of the first trimester nuchal translucency scan. In particular, absence of the intra-cranial translucency (IT) of the fourth ventricle has shown promise as a diagnostic marker of OSB, although the sensitivity and specificity of this finding varies widely in the literature...
April 2017: Journal of Medical Imaging and Radiation Oncology
Giuseppe M Maruotti, Gabriele Saccone, Francesco D'Antonio, Vincenzo Berghella, Laura Sarno, Maddalena Morlando, Antonia Giudicepietro, Pasquale Martinelli
OBJECTIVE: To evaluate the diagnostic accuracy of intracranial translucency (IT) in the detection of spina bifida (SB) in the first trimester of pregnancy. METHODS: We included study assessing the accuracy of sonographic measurements of IT in a mid-sagittal view of the fetal face in prediction of SB in the first trimester of pregnancy. The primary outcome was the accuracy of IT in prediction of spina bifida. Summary estimates of sensitivity, specificity, positive and negative likelihood ratios (LR), and diagnostic odds ratio for the overall predictive accuracy of IT were computed...
November 2016: Prenatal Diagnosis
Edward Araujo, Gabriele Tonni, Wellington P Martins
OBJECTIVE: To assess the outcomes of infants followed-up at least 12 months after open and endoscopic fetal surgery for the treatment of spina bifida. METHODS: A searching in The Cochrane Library, LILACS, PubMed and SCOPUS databases for fetal meningomyelocele (MMC) open or endoscopic surgery in humans from 2003 on-wards with follow-up at least 12 months. The rate of the estimated proportions was evaluated by the 95% confidence interval (CI). RESULTS: A total of 19 studies were finally included (17 open and 2 endoscopic surgery)...
June 15, 2016: Journal of Evidence-based Medicine
Uwe Max Mauer, Arne Jahn, Luise Unterreithmeir, Wolfgang Wagner, Ulrich Kunz, Chris Schulz
Background and Study Aims Although postnatal surgery can be regarded as the standard of care for open myelomeningocele (MMC), there is no uniform treatment for this condition in Germany. This study assessed the current situation regarding the management of open MMC, a first and essential step toward the development of standards of practice. Patients and Methods In the second half of 2009, we had sent standardized questionnaires to 139 neurosurgery departments and 73 pediatric surgery departments (number of returned questionnaires: 98 and 62, respectively) to identify the principles of MMC management...
November 2016: Journal of Neurological Surgery. Part A, Central European Neurosurgery
Elizabeth Radcliff, Cynthia H Cassell, Sarah B Laditka, Judy K Thibadeau, Jane Correia, Scott D Grosse, Russell S Kirby
PURPOSE: Clinical guidelines recommend repair of open spina bifida (SB) prenatally or within the first days of an infant's life. We examined maternal, infant, and health care system factors associated with time-to-repair among infants with postnatal repair. METHODS: This retrospective, statewide, population-based study examined infants with SB born in Florida 1998-2007, ascertained by the Florida Birth Defects Registry. We used procedure codes from hospital discharge records to identify the first recorded myelomeningocele repair (ICD-9 CM procedure code 03...
August 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
F Girtler, K Rödder, M Fisch
A 47-year-old woman with spina bifida and an ileal conduit since childhood presented with left-sided flank pain, bilateral hydronephrosis and oliguria suspicious for a recurrent stenosis at the ureteral implantation site. Her history revealed a recent increase in her pain medication with opioids for treatment of neuropathic pain. After insertion of percutaneous nephrostomy on the left side and confirmation of the stenosis, open reimplantation of the ureter was already discussed with the patient. However after dose reduction of the opioid therapy hydronephrosis resolved...
October 2016: Der Urologe. Ausg. A
Ana Rolo, Dawn Savery, Sarah Escuin, Sandra C de Castro, Hannah E J Armer, Peter M G Munro, Matteo A Molè, Nicholas D E Greene, Andrew J Copp
Epithelial fusion is a crucial process in embryonic development, and its failure underlies several clinically important birth defects. For example, failure of neural fold fusion during neurulation leads to open neural tube defects including spina bifida. Using mouse embryos, we show that cell protrusions emanating from the apposed neural fold tips, at the interface between the neuroepithelium and the surface ectoderm, are required for completion of neural tube closure. By genetically ablating the cytoskeletal regulators Rac1 or Cdc42 in the dorsal neuroepithelium, or in the surface ectoderm, we show that these protrusions originate from surface ectodermal cells and that Rac1 is necessary for the formation of membrane ruffles which typify late closure stages, whereas Cdc42 is required for the predominance of filopodia in early neurulation...
April 26, 2016: ELife
Lei Wang, Zhe Zhou, Miao-zi Gong, Dong-liang Pan, Xiang-hua Zhang, Ning-chen Li, Yan-qun Na
Bladder tumor arising in a spina bifida patient is rare and may be clinically latent. We report the case of a 61-year-old female patient with spina bifida, neurogenic bladder, and a history of recurrent urinary tract infections. A B-ultrasound and non-contrast computed tomography scan did not reveal any bladder mass, but an unexplained "well-filled" bladder was observed, which was confusing as the catheter was present and open. However, a subsequent cystoscopic evaluation revealed a large bladder mass measuring 9...
April 2016: Medicine (Baltimore)
Márcio José Rosa Requeijo, Victor Bunduki, Rossana Pulcineli Vieira Francisco, Marco Antonio Borges Lopes, Rodrigo Ruano, Marcelo Zugaib
PURPOSE: To evaluate the precision of both two- and three-dimensional ultrasonography in determining vertebral lesion level (the first open vertebra) in patients with spina bifida. METHODS: This was a prospective longitudinal study comprising of fetuses with open spina bifida who were treated in the fetal medicine division of the department of obstetrics of Hospital das Clínicas of the Universidade de São Paulo between 2004 and 2013. Vertebral lesion level was established by using both two- and three-dimensional ultrasonography in 50 fetuses (two examiners in each method)...
March 2016: Revista Brasileira de Ginecologia e Obstetrícia
Luc Joyeux, Alexander C Engels, Francesca M Russo, Julio Jimenez, Tim Van Mieghem, Paolo De Coppi, Frank Van Calenbergh, Jan Deprest
OBJECTIVE: To compare outcomes of fetoscopic spina bifida aperta repair (FSBAR) with the results of the open approach (OSBAR) as in the Management Of Myelomeningocele Study (MOMS). METHODS: This was a systematic comparison of reports on FSBAR with data from the MOMS (n = 78). Inclusion criteria were studies of spina bifida aperta patients who underwent FSBAR and were followed for ≥12 months. Primary outcome was perinatal mortality. Secondary outcomes included operative, maternal, fetal, neonatal and infant outcomes...
2016: Fetal Diagnosis and Therapy
E Magda Price, Maria S Peñaherrera, Elodie Portales-Casamar, Paul Pavlidis, Margot I Van Allen, Deborah E McFadden, Wendy P Robinson
BACKGROUND: The incidence of neural tube defects (NTDs) declined by about 40 % in Canada with the introduction of a national folic acid (FA) fortification program. Despite the fact that few Canadians currently exhibit folate deficiency, NTDs are still the second most common congenital abnormality. FA fortification may have aided in reducing the incidence of NTDs by overcoming abnormal one carbon metabolism cycling, the process which provides one carbon units for methylation of DNA. We considered that NTDs persisting in a folate-replete population may also occur in the context of FA-independent compromised one carbon metabolism, and that this might manifest as abnormal DNA methylation (DNAm)...
2016: Epigenetics & Chromatin
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