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Spina bifida

Sepideh Sefidbakht, Sakineh Dehghani, Maryam Safari, Homeira Vafaei, Maryam Kasraeian
BACKGROUND: Magnetic resonance imaging (MRI) is gradually becoming more common for thorough visualization of the fetus than ultrasound (US), especially for neurological anomalies, which are the most common indications for fetal MRI and are a matter of concern for both families and society. OBJECTIVES: We investigated fetal MRIs carried out in our center for frequency of central nervous system anomalies. This is the first such report in southern Iran. MATERIALS AND METHODS: One hundred and seven (107) pregnant women with suspicious fetal anomalies in prenatal ultrasound entered a cross-sectional retrospective study from 2011 to 2013...
August 2016: Iranian Journal of Pediatrics
Phayvanh P Sjogren, Richard K Gurgel, Albert H Park
OBJECTIVES: To determine whether a canal wall down mastoidectomy can provide long-term benefit for children with aural stenosis. METHODS: Retrospective case series of children with congenital aural stenosis having undergone a canal wall down mastoidectomy over a twelve-year period at a tertiary children's hospital. RESULTS: Data from thirteen children who underwent a total of twenty canal wall down mastoidectomies for aural stenosis were reviewed...
November 2016: International Journal of Pediatric Otorhinolaryngology
Shuyuan Chen, Qin Zhang, Baoling Bai, Shengrong Ouyang, Yihua Bao, Huili Li, Ting Zhang
Dishevelled (DVL/Dvl) genes play roles in canonical and noncanonical Wnt signaling, both of which are essential in neural tube closing and are involved in balancing neural progenitor growth and differentiation, or neuroepithelial cell polarity, respectively. In mouse Dvl haploinsufficiency leads to neural tube defects (NTDs), which represent the second most common birth defects. However, DVL genes' genetic contributions in human NTDs are modest. We sought to explore the molecular impact on such genes in human NTDs in a Han Chinese cohort...
October 6, 2016: Molecular Neurobiology
Julian Little, Caroline Barakat-Haddad, Rosemary Martino, Tamara Pringsheim, Helen Tremlett, Kyla A McKay, Pascal van Lieshout, Stephanie J Walsh, James Gomes, Daniel Krewski
This paper presents an overview of genetic variation associated with the onset and progression of 14 neurological disorders, focusing primarily on association studies. The 14 disorders are heterogeneous in terms of their frequency, age of onset, etiology and progression. There is substantially less evidence on progression than onset. With regard to onset, the conditions are diverse in terms of their epidemiology and patterns of familial aggregation. While the muscular dystrophies and Huntington's disease are monogenic diseases, for the other 12 conditions only a small proportion of cases is associated with specific genetic syndromes or mutations...
October 3, 2016: Neurotoxicology
Laurie A Malone, Jennifer L Rowland, Rebecca Rogers, Tapan Mehta, Sangeetha Padalabalanarayanan, Mohanraj Thirumalai, James H Rimmer
OBJECTIVE: For active videogaming (AVG) to be a meaningful, health-enhancing physical activity option for youth with physical disability, factors related to game performance and enjoyment must be understood. The objective was to explore associations between quality of gameplay, controller usage, heart rate (HR), physical function, and enjoyment during AVG play in youth with physical disability. METHODS: Participants (5 girls, 11 boys, mean age 13.8 ± 2.7 years) played four AVGs on three platforms (Nintendo(®) Wii™, Sony PlayStation3 Move, and Microsoft Xbox(®) Kinect), across three sessions...
October 3, 2016: Games for Health
Katja Glejsted Ingstrup, Chun Sen Wu, Jørn Olsen, Ellen Aagaard Nohr, Bodil Hammer Bech, Jiong Li
BACKGROUND: Maternal emotional stress during pregnancy has previously been associated with congenital neural malformations, but most studies are based on data collected retrospectively. The objective of our study was to investigate associations between antenatal maternal bereavement due to death of a close relative and neural tube defects (NTDs) in the offspring. METHODS: We performed a register-based cohort study including all live-born children (N = 1,734,190) from 1978-2008...
2016: PloS One
Vedarth Dash, Monika Bawa, J K Mahajan, Ravi P Kanojia, Ram Samujh, Kln Rao
BACKGROUND: Anticholinergics are well established in the management of neurogenic bladders. However, some patients do have sub-optimal response or severe side effects. This study is designed to assess and compare efficacy of gabapentin with oxybutynin in neurogenic bladders after surgery for spina bifida. METHODS: Patients were randomized into three groups after urodynamic studies and started on oxybutynin, gabapentin, and combination of both, respectively. Thorough clinical and urodynamic reassessment was done at 6months and one year after starting treatment...
September 15, 2016: Journal of Pediatric Surgery
Priscilla Weaver, Gretchen Meyer, Michelle Yuen
No abstract text is available yet for this article.
2016: Pediatric Physical Therapy
David Chapman
PURPOSE: The purpose of this study was to describe the frequency with which infants with lumbar or sacral spina bifida (SB) move their legs or kick when they are 7 months and older while in the supine position, seated in a conventional infant seat (CS), and seated in a specially designed infant seat (SDIS). METHODS: The spontaneous leg movements of 9 infants with lumbar or sacral SB were videotaped once per month for 4 months in each position. RESULTS: Infants generated significantly more leg movements when seated in the SDIS than in the CS and significantly more kicks in the SDIS than in the other 2 positions...
2016: Pediatric Physical Therapy
L Mazzone, M Pratsinis, L Pontiggia, E Reichmann, M Meuli
PURPOSE: Fetal repair of spina bifida results in improved outcomes and has therefore become a standard clinical procedure in some highly specialized centers. However, optimization of the procedure technique and timing is needed. Both might be achieved by facilitating the procedure using laboratory-grown fetal skin substitutes. The aim of this study was therefore to test in vivo the suitability of such a fetal skin substitute for an in utero application. METHODS: Collagen-based hydrogels containing fetal ovine fibroblasts were seeded with fetal ovine keratinocytes and transplanted on immuno-incompetent nu/nu rats...
September 20, 2016: Pediatric Surgery International
Christina E Holbein, Kathy Zebracki, Colleen F Bechtel, Jaclyn Lennon Papadakis, Elizabeth Franks Bruno, Grayson N Holmbeck
AIM: To assess changes over time in parents' expectations of adult milestone achievement (college attendance, full-time job attainment, independent living, marriage, parenthood) for young people with spina bifida, to examine how expectancies relate to actual milestone achievement, and to compare milestone achievement in emerging adults with spina bifida with that of peers with typical development. METHOD: Sixty-eight families of children with spina bifida (mean age 8y 4mo, 37 males, 31 females) and 68 families of children with typical development (mean age 8y 6mo, 37 males, 31 females) participated at Time 1...
September 21, 2016: Developmental Medicine and Child Neurology
Gina M Cambareri, Dana W Giel, Aaron P Bayne, Sean Corbett, Elleson Schurtz, Larisa Kovacevic, Troy Sukhu, Michael Yap, George Chiang
OBJECTIVE: To determine if 24-hour urinary parameters in children with nephrolithiasis across four institutions were influenced by body mass index (BMI). MATERIALS AND METHODS: The 24-hour urinary parameters obtained from children with nephrolithiasis between 2000-2013 were stratified by BMI percentile ≥85th and <85th (overweight and obese patients versus healthy weight, respectively). A total of 206 children were included in the study. Exclusion criteria included patients with a history of spina bifida, neurogenic bladder, cerebral palsy and patients on medical treatment before the first 24-hour urine collection...
September 15, 2016: Urology
Manon At Bloemen, Tim Takken, Frank Jg Backx, Marleen Vos, Cas Ljj Kruitwagen, Janke F de Groot
OBJECTIVE: To determine content validity of the Muscle Power Sprint Test (MPST) and construct validity and reliability of the MPST, 10x5 Meter Sprint Test (10x5MST), slalom test and one stroke push test (1SPT) in wheelchair-using youth with spina bifida (SB). DESIGN: Clinimetric study SETTING: Rehabilitation centers, SB outpatient services, private practices PARTICIPANTS: A convenience sample of 53 children (5-19 years, 32 boys / 21 girls) with SB who use a manual wheelchair...
September 12, 2016: Archives of Physical Medicine and Rehabilitation
Ramesha Papanna, Lovepreet K Mann, Saul Snowise, Yisel Morales, Sanjay P Prabhu, Scheffer C G Tseng, Raymond Grill, Stephen Fletcher, Kenneth J Moise
OBJECTIVES: The objective of our study was to test the hypothesis that in utero repair of surgically created spina bifida in a sheep model using cryopreserved human umbilical cord (HUC) patch improves neurological outcome. METHODS: Spina bifida with myelotomy was surgically created in timed pregnant ewes at gestational day (GD) 75. The fetuses were randomly assigned to unrepaired versus HUC and treated at GD 95 and then delivered at GD 140. Neurological evaluation was performed using the Texas Spinal Cord Injury Scale (TSCIS), bladder control using ultrasound, and the hindbrain herniation...
July 2016: American Journal of Perinatology Reports
T Large, K M Szymanski, B Whittam, R Misseri, K H Chan, M Kaefer, R C Rink, M P Cain
INTRODUCTION: While fecal incontinence (FI) affects many patients with spina bifida (SB), it is unclear if it is associated with ambulatory status. OBJECTIVE: To determine if ambulatory status is associated with FI, and a potential confounding variable, in patients with and without a Malone antegrade continence enema (MACE). STUDY DESIGN: This study retrospectively reviewed of patients aged ≥8 years with SB who were enrolled in an international quality of life study at outpatient visits (January 2013 to September 2015)...
August 24, 2016: Journal of Pediatric Urology
Hyun Jung Yun, Hee Soon Kim
PURPOSE: The aim of this study was to identify factors associated with self-management behaviors in children with spina bifida (SB). The Individual and Family Self-Management Theory was used as a framework. METHODS: This was a cross-sectional survey study of 112 elementary school children (7-12 years old) with SB who regularly attended scheduled follow-up appointments at the SB clinic of a children's hospital in Seoul, Korea, and their parents. Demographics, condition severity, school adjustment, and family function were the contextual self-management factors, whereas self-management knowledge, self-efficacy, and social support were the process factors...
September 5, 2016: Journal of Neuroscience Nursing: Journal of the American Association of Neuroscience Nurses
Subramanian Vaidyanathan, Azi Samsudin, Gurpreet Singh, Peter L Hughes, Bakul M Soni, Fahed Selmi
INTRODUCTION: Paraplegic patients are at greater risk of developing complications following ureteroscopic lithotripsy because of urine infection associated with neuropathic bladder, difficulties in access due to altered anatomy of urinary bladder and urethra, spinal curvature, spasticity, and contractures. We report the occurrence of large subcapsular hematoma following ureteroscopy and discuss lessons we learn from this case. CASE REPORT: A 48-year-old male patient with spina bifida underwent ureteroscopy with laser lithotripsy and ureteric stenting for left ureteric stone and staghorn calculus with hydronephrosis; laser lithotripsy was repeated after 3 months; both procedures were performed by a senior urologist and did not result in any complications...
2016: International Medical Case Reports Journal
Hortensja Ł Brzóska, Angela M d'Esposito, Maria Kolatsi-Joannou, Vishal Patel, Peter Igarashi, Yunping Lei, Richard H Finnell, Mark F Lythgoe, Adrian S Woolf, Eugenia Papakrivopoulou, David A Long
The mammalian kidney contains nephrons comprising glomeruli and tubules joined to ureteric bud-derived collecting ducts. It has a characteristic bean-like shape, with near-complete rostrocaudal symmetry around the hilum. Here we show that Celsr1, a planar cell polarity (PCP) gene implicated in neural tube morphogenesis, is required for ureteric tree growth in early development and later in gestation prevents tubule overgrowth. We also found an interaction between Celsr1 and Vangl2 (another PCP gene) in ureteric tree growth, most marked in the caudal compartment of the kidneys from compound heterozygous mutant mice with a stunted rump...
September 2, 2016: Kidney International
Elizabeth Snyder, Aylin Tekes
No abstract text is available yet for this article.
August 31, 2016: Journal of Pediatrics
Amanda Reichard, Suzanne McDermott, Margaret Ruttenber, Joshua Mann, Michael G Smith, Julie Royer, Rodolfo Valdez
BACKGROUND: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems. However, such monitoring is important because, as a group, rare conditions have great impact on the health of affected individuals and the well-being of their caregivers. A viable approach could be to conduct passive and active case ascertainment of several rare conditions simultaneously. This is a report about the feasibility of such an approach...
August 29, 2016: JMIR Public Health and Surveillance
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