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Spina bifida

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https://www.readbyqxmd.com/read/28647562/post-operative-complications-of-spina-bifida-patients-undergoing-urological-laparotomy-a-multi-institutional-analysis
#1
Christopher J Loftus, David C Moore, Joshua A Cohn, Douglas F Milam, Roger R Dmochowski, Dan Wood, Melissa R Kaufman, Hadley M Wood
OBJECTIVE: To characterize peri-operative morbidity and mortality of adult spina bifida patients undergoing laparotomy. METHODS: We retrospectively studied the post-operative complications of 59 operations of spina bifida patients undergoing abdominal laparotomies for urological indications at three institutions. We evaluated post-operative complications using the Clavien-Dindo classification scale. RESULTS: The overall complication rate was 91...
June 21, 2017: Urology
https://www.readbyqxmd.com/read/28632019/underappreciated-challenges-to-pediatric-powered-mobility-ways-to-address-them-as-illustrated-by-a-case-report
#2
Miriam L Weinstein, Michele Lloyd, Kirstie A Finch, Abbigayle D Laszacs
Rehabilitation Engineering and Assistive Technology Society of North America (RESNA) has published a position paper strongly advocating powered mobility (PM) for children with severe physical limitations (Rosen et al., 2009). Many studies have established that there are gains in social skills and functional mobility. While PM can aid independence, there has been more emphasis on the improvements in socialization rather than the positive changes PM can make in a child's daily living. For example, Bottos and colleagues stated the quality of life did not change for the children in their study (2001)...
February 14, 2017: Assistive Technology: the Official Journal of RESNA
https://www.readbyqxmd.com/read/28629784/-from-paediatric-urological-care-to-adult-urology-assessment-of-a-transition-consultation-for-adolescents
#3
L Even, S Mouttalib, J Moscovici, M Soulie, P Rischmann, X Game, P Galinier, O Bouali
To provide an adequate lifelong urological care in the complex period of adolescence, a transition consultation conducted by a paediatric surgeon and an urologist was developed in our institution. As a real rite of passage, it allows the follow-up and the adapted care of urological conditions, sometimes complex, and permits the transition between childhood and the world of grown-ups. We reported our experience at the Children Hospital of our institution (paediatric surgery and urology departments). During a 6 months period (January-July 2015), forty-five young adults with a mean age of 17...
June 16, 2017: Progrès en Urologie
https://www.readbyqxmd.com/read/28607062/biomechanical-coupling-facilitates-spinal-neural-tube-closure-in-mouse-embryos
#4
Gabriel L Galea, Young-June Cho, Gauden Galea, Matteo A Molè, Ana Rolo, Dawn Savery, Dale Moulding, Lucy H Culshaw, Evanthia Nikolopoulou, Nicholas D E Greene, Andrew J Copp
Neural tube (NT) formation in the spinal region of the mammalian embryo involves a wave of "zippering" that passes down the elongating spinal axis, uniting the neural fold tips in the dorsal midline. Failure of this closure process leads to open spina bifida, a common cause of severe neurologic disability in humans. Here, we combined a tissue-level strain-mapping workflow with laser ablation of live-imaged mouse embryos to investigate the biomechanics of mammalian spinal closure. Ablation of the zippering point at the embryonic dorsal midline causes far-reaching, rapid separation of the elevating neural folds...
June 12, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28599099/clinical-and-molecular-genetic-characterization-of-two-siblings-with-trisomy-2p24-3-pter-and-monosomy-5p14-3-pter
#5
Daisuke Fukushi, Kenji Kurosawa, Yasuyo Suzuki, Kaoru Suzuki, Kenichiro Yamada, Seiji Watanabe, Kenji Yokochi, Nobuaki Wakamatsu
Partial trisomy 2p syndrome is occasionally associated with neural tube defects (NTDs), such as anencephaly, encephalocele, and spina bifida, in addition to common features of intellectual disability, developmental delay, and characteristic facial appearance. The 2p24 region has been reported to be associated with NTDs. Here, we report the cases of 2 siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter caused by the paternal translocation t(2;5)(p24.3;p14.3). Of the two siblings, the elder sister had spina bifida...
June 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28593553/prenatal-diagnosis-of-spina-bifida-from-intracranial-translucency-to-intrauterine-surgery
#6
Waldo Sepulveda, Amy E Wong, Francisco Sepulveda, Juan L Alcalde, Juan C Devoto, Felipe Otayza
Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle ("intracranial translucency") and cisterna magna. The second step of screening is the second-trimester anatomy scan, at which time the features of the Chiari type II malformation should be looked for, including ventriculomegaly, scalloping of the frontal bones ("lemon" sign), and backward and caudal displacement of the cerebellar vermis with obliteration of the cisterna magna ("banana" sign)...
June 7, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28587917/home-urodynamic-pressures-and-volume-measurement-for-the-neurogenic-bladder-initial-validation-study
#7
Guy Hidas, Tandis Soltani, John Billimek, Blake Selby, Maryellen S Kelly, Gordon McLorie, Elias Wehbi, Antoine E Khoury
AIMS: To evaluate the ability of a bladder pressure/volume diary (PVD) to identify patients at risk for elevated intravesical pressures. METHODS: Clean intermittent catheterization (CIC) dependent patients used ruler-based manometry to measure intravesical pressures prior to leakage or scheduled drainage at home. We prospectively collected clinical, urodynamic (UDS), and PVD data in patients with spina bifida who were optimized on anticholinergic therapy and on CIC...
June 3, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28579621/fetal-pathology-of-neural-tube-defects-an-overview-of-68-cases
#8
Katharina Schoner, Roland Axt-Fliedner, Rainer Bald, Barbara Fritz, Juergen Kohlhase, Thomas Kohl, Helga Rehder
INTRODUCTION: The prevalence of neural tube defects worldwide is 1 - 2 per 1000 neonates. Neural tube defects result from a disturbance of neurulation in the 3rd or 4th week of development and thus represent the earliest manifestation of organ malformation. Neural tube defects (NTD) are classified into cranial dysraphism leading to anencephaly or meningoencephalocele and spinal dysraphism with or without meningomyelocele. In isolated form they have multifactorial causes, and the empirical risk of recurrence in Central Europe is 2%...
May 2017: Geburtshilfe und Frauenheilkunde
https://www.readbyqxmd.com/read/28578005/isolation-characterization-and-differentiation-of-multipotent-neural-progenitor-cells-from-human-cerebrospinal-fluid-in-fetal-cystic-myelomeningocele
#9
Mario Marotta, Alejandra Fernández-Martín, Marc Oria, Cesar G Fontecha, Carles Giné, Vicente Martínez-Ibáñez, Elena Carreras, Michael A Belfort, Gloria Pelizzo, Jose L Peiró
Despite benefits of prenatal in utero repair of myelomeningocele, a severe type of spina bifida aperta, many of these patients will still suffer mild to severe impairment. One potential source of stem cells for new regenerative medicine-based therapeutic approaches for spinal cord injury repair is neural progenitor cells (NPCs) in cerebrospinal fluid (CSF). To this aim, we extracted CSF from the cyst surrounding the exposed neural placode during the surgical repair of myelomeningocele in 6 fetuses (20 to 26weeks of gestation)...
May 15, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28576414/is-urodynamic-evaluation-a-must-in-all-operated-cases-of-open-neural-tube-defects
#10
Monika Bawa, Vedarth Dash, Akshay Kalavant, J K Mahajan, K L N Rao
BACKGROUND: Spina bifida is a common cause of pediatric neurogenic bladder. It causes renal failure in almost 100% of patients if the associated detrusor sphincter dyssynergia (DSD) is inadequately managed. Detrusor instability and high detrusor pressures (Figure) have been implicated as the major factors predictive of renal damage in these patients. Urodynamic studies provide early identification of "at risk" kidneys so that appropriate intervention can be made. However, the role in post-operative patients of spina bifida who have no clinical manifestations remains unclear...
May 20, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28555303/the-evolution-of-spina-bifida-treatment-through-a-biomedical-ethics-lens
#11
Tal Levin-Decanini, Amy Houtrow, Aviva Katz
Spina bifida is a neurodevelopmental disorder that results in a broad range of disability. Over the last few decades, there have been significant advances in diagnosis and treatment of this condition, which have raised concerns regarding how clinicians prognosticate the extent of disability, determine quality of life, and use that information to make treatment recommendations. From the selective treatment of neonates in the 1970s, to the advent of maternal-fetal surgery today, the issues that have been raised surrounding spina bifida intervention invoke principles of medical bioethics such as beneficence and nonmaleficence, while also highlighting how quality of life judgments may drive care decisions...
May 29, 2017: HEC Forum: An Interdisciplinary Journal on Hospitals' Ethical and Legal Issues
https://www.readbyqxmd.com/read/28548634/predictors-of-permanent-disability-among-adults-with-spinal-dysraphism
#12
Matthew C Davis, Betsy D Hopson, Jeffrey P Blount, Rachel Carroll, Tracey S Wilson, Danielle K Powell, Amie B Jackson McLain, Brandon G Rocque
OBJECTIVE Predictors of permanent disability among individuals with spinal dysraphism are not well established. In this study, the authors examined potential risk factors for self-reported permanent disability among adults with spinal dysraphism. METHODS A total of 188 consecutive individuals undergoing follow-up in an adult spinal dysraphism clinic completed a standardized National Spina Bifida Patient Registry survey. Chi-square tests and logistic regression were used to assess bivariate relationships, while multivariate logistic regression was used to identify factors independently associated with self-identification as "permanently disabled...
May 26, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28546867/tethered-cord-syndrome-with-spina-bifida-aperta-in-cats-two-case-reports-of-different-types
#13
Masahiro Tamura, Takashi Oji, Satoshi Une, Makiko Mukaino, Tatsuro Bekki, Masaki Tado, Hiromi Koyama, Yumiko Kagawa, Mutsumi Kawata
CASE SUMMARY: Two castrated male cats, aged 8 months old (case 1) and 10 months old (case 2), showed a history of progressive paraparesis, an over-reaching pelvic limb gait, urinary incontinence and a palpable dermoid fistula. In case 1, the fistula was connected to the dural sac on the conus medullaris, and the tethered spinal cord was retracted caudally. In case 2, the tubular structure was connected to the dural sac on the thoracic spinal cord, and the tethered spinal cord was retracted dorsally...
January 2017: JFMS open reports
https://www.readbyqxmd.com/read/28545800/outcomes-and-satisfaction-in-pediatric-patients-with-chait-cecostomy-tubes
#14
Mark D Bevill, Kristine Bonnett, Angela Arlen, Christopher Cooper, Cheryl Baxter, Douglas W Storm
INTRODUCTION: Patients with spina bifida and other spinal dysraphisms commonly suffer from fecal incontinence and constipation, which can be treated with antegrade continence enemas. Currently, information regarding outcomes and satisfaction in children who have Chait cecostomy tubes is lacking. The aim of our study was to evaluate the effectiveness of Chait cecostomy tubes in management of constipation in children with spinal dysraphisms. MATERIALS AND METHODS: A questionnaire was completed by patients and/or their families during office visits at the University of Iowa or Nationwide Children's Hospital during follow-up pediatric urology office visits...
May 8, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28537221/ethical-stumbling-blocks-in-uncovering-folate-deficiency-as-a-preventable-cause-of-spina-bifida
#15
Lars H Breimer, Torbjörn K Nilsson
The year 2016 witnessed the anniversaries of several key events related to the prevention of neural tube defects (NTD) with folate supplementation. However, the road leading up to this achievement was full of stumbling blocks, both in terms of research ethics and researcher ethics. First, the decisions of ethics review boards differed with respect to allowing placebo groups in folate trials, thus reducing the level of evidence obtained from the earliest studies. Second, statisticians insisted on analysing the outcome of a trial by intention-to-treat - which turned out to be non-significant - rather than by treatment received, which was statistically significant...
May 18, 2017: Indian Journal of Medical Ethics
https://www.readbyqxmd.com/read/28536839/maternal-fetal-surgery-for-myelomeningocele-some-thoughts-on-ethical-legal-and-psychological-issues-in-a-western-european-situation
#16
Frank Van Calenbergh, Luc Joyeux, Jan Deprest
BACKGROUND: The results of the Management of Myelomeningocele Study (MOMS) randomized controlled trial have demonstrated that maternal-fetal surgery (MFS) for myelomeningocele (MMC) compared to postnatal MMC repair has clear neurological benefits for the child at 12 and 30 months of age. Level I evidence nevertheless does not provide answers to many questions in this delicate field. Since the beginning of 2012, our fetal center has been offering MFS for spina bifida aperta (SBA) to patients from different European and non-European countries, in a societal context where termination of pregnancy is the option chosen by most patients when being informed of this diagnosis...
May 23, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28534693/exploring-the-icf-cy-as-a-framework-to-inform-transition-programs-from-pediatric-to-adult-healthcare
#17
Laura R Hartman, Amy C McPherson, Joanne Maxwell, Sally Lindsay
OBJECTIVE: To explore the utility of the International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY) for informing transition-related programs for youth with chronic conditions moving into adult healthcare settings, using an exemplar spina bifida program. METHODS: Semi-structured in-depth interviews were conducted with 53 participants (9 youth and 11 parents who participated in a spina bifida transition program, 12 young adults who did not, 12 clinicians, and 9 key informants involved in development/implementation)...
May 23, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28533829/clinical-analysis-of-aqueductal-stenosis-in-patients-with-hydrocephalus-in-a-kenyan-setting
#18
Loyal Poonamjeet Kaur, Nderitu Joseph Munyiri, Wekesa Vincent Dismus
INTRODUCTION: Aqueductal stenosis is the commonest cause of congenital hydrocephalus. The scope of this paper is to highlight the disease burden of hydrocephalus attributed to aqueductal stenosis which still remains unknown in our setting. METHODS: In a descriptive cross-sectional study, 258 records of patients diagnosed with hydrocephalus were analyzed after ethical approval from Kenyatta National Hospital- University of Nairobi (KNH-UON) ethics and research committee from January 2010 to May 2016...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28516217/prenatal-surgery-for-myelomeningocele-review-of-the-literature-and-future-directions
#19
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
https://www.readbyqxmd.com/read/28510070/sonographic-detection-of-open-spina-bifida-in-the-first-trimester-review-of-the-literature
#20
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
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