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open spina bifida

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...
October 21, 2016: 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...
August 8, 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...
June 7, 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...
May 4, 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...
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
Christian M Domröse, Sandra Bremer, Caroline Buczek, Annegret Geipel, Christoph Berg, Ulrich Gembruch, Arne Willruth
PURPOSE: To analyze fetal cases with spina bifida undergoing termination of pregnancy according to chromosomal analysis and further diagnosed sonographic findings. METHODS: Retrospective analysis of cases with spina bifida leading to termination of pregnancy in a tertiary referral center from 2002 to 2011. RESULTS: In the study period, 246 cases of spina bifida were diagnosed in our center and 157 parents chose termination of pregnancy. The time of diagnosis was on average 2 days before the first presentation at our department (22 + 3, range: 12 + 3 - 33 + 3 weeks of gestation)...
October 2016: Archives of Gynecology and Obstetrics
P Mace, E Quarello
The diagnosis of an abnormal fetal posterior fossa is usually done during the second trimester scan. However, some forms of open spina bifida with Arnold-Chiari malformation can be detected from the first trimester ultrasound with a precise examination of the posterior fossa and intracranial translucency. Furthermore, other abnormalities of the posterior fossa such as cystic malformations also seem to be accessible to early detection. This work detailed the possible usual and unusual aspects of the posterior fossa individualized during the first trimester ultrasound scan...
January 2016: Gynécologie, Obstétrique & Fertilité
E Araujo Júnior, A J Eggink, J van den Dobbelsteen, W P Martins, D Oepkes
OBJECTIVE: To assess and compare the rate of procedure-related complications after intrauterine treatment of spina bifida by endoscopic surgery and by open fetal surgery. METHODS: Systematic literature searches in PubMed and SCOPUS databases were performed on 20 September 2015 to identify randomized controlled trials and observational studies on treatment of human spina bifida by endoscopic or open fetal surgery techniques. Only studies with ≥ 10 cases that were published in or after 2000 were included in the meta-analysis in order to reduce the risk of bias...
August 2016: Ultrasound in Obstetrics & Gynecology
A Turcu-Stiolica
No abstract text is available yet for this article.
November 2015: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
Miho Watanabe, Haiying Li, Aimee G Kim, Aaron Weilerstein, Anteneta Radu, Marcus Davey, Stavros Loukogeorgakis, Melissa D Sánchez, Kazutaka Sumita, Naoki Morimoto, Masaya Yamamoto, Yasuhiko Tabata, Alan W Flake
Myelomeningocele (MMC) is the most severe form of spina bifida, one of the most common congenital anomalies. Although open fetal surgical repair of the MMC defect has been shown to result in improved outcomes, a less invasive approach applicable earlier in gestation than the current open surgical approach between 19 and 26 weeks of gestation is desirable for further improvement of neurological symptoms, as well as reduction of maternal and fetal risks. We previously reported the therapeutic potential of a scaffold-based tissue engineering approach in a fetal rat MMC model...
January 2016: Biomaterials
Ilteris Murat Emsen
BACKGROUND: Meningomyelocele is a kind of spina bifida. In this deformity, the spinal canal and the back bone is open. This type of birth defect is also called a neural tube defect. There are many and different methods on the closure of large meningomyelocele defects. Although small meningomyeloceles may be agreeable to direct or primary closure with the local surrounding skin, the closure of large meningomyelocele skin defects needs more complex methods. PURPOSE: The author presented a different surgical procedure for the closure of large meningomyelocele defects...
October 2015: Journal of Craniofacial Surgery
Denise A L Pedreira, Nelci Zanon, Koshiro Nishikuni, Renato A Moreira de Sá, Gregório L Acacio, Ramen H Chmait, Eftichia V Kontopoulos, Rubén A Quintero
BACKGROUND: A recent randomized clinical trial named Management of Myelomeningocele Study (MOMS trial) showed that prenatal correction of open spina bifida (OSB) via open fetal surgery was associated with improved infant neurological outcomes relative to postnatal repair, but at the expense of increased maternal morbidity. OBJECTIVE: We sought to report the final results of our phase I trial (Cirurgia Endoscópica para Correção Antenatal da Meningomielocele [CECAM]) on the feasibility, safety, potential benefits, and side effects of the fetoscopic treatment of OSB using our unique surgical technique...
January 2016: American Journal of Obstetrics and Gynecology
Emanuela Orlandi, Cinzia Rossi, Antonio Perino, Gaspare Cucinella, Francesco Orlandi
OBJECTIVE: To conduct a literature review to assess the effectiveness of first trimester ultrasonographic markers of spina bifida (SB) integrating data with our prospective experience. METHODS: The analysis of the SB cases that we prospectively detected in the first trimester, between January 2012 and February 2014, and a systematic review of all the papers evaluating the effectiveness of SB ultrasonographic markers at 11-14 weeks, namely brain stem diameter (BS), fourth ventricle/intracranial translucency (IT), cisterna magna (CM), brain stem/occipital bone distance (BSOB), the ratio between BS and BSOB...
2016: Journal of Maternal-fetal & Neonatal Medicine
Mingqin Wang, Patrizia De Marco, Elisa Merello, Pierre Drapeau, Valeria Capra, Zoha Kibar
BACKGROUND: Neural tube defects (NTDs) are among the most common congenital defects affecting approximately 1 in 1000 live births in North America. Their etiology is complex including environmental and genetic factors. Defects in the planar cell polarity (PCP) signaling pathway have been strongly associated with NTDs in animal models and human cohorts. Protein tyrosine kinase 7 (Ptk7) was shown to cause a very severe form of NTDs called craniorachischisis in a mouse model and genetically interacts with a core PCP member Vangl2 where double heterozygotes suffer from spina bifida...
December 2015: Birth Defects Research. Part A, Clinical and Molecular Teratology
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