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myelomeningoceles

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https://www.readbyqxmd.com/read/28813702/tocolysis-for-in-utero-surgery-atosiban-performs-distinctly-better-than-magnesium-sulfate
#1
Nicole Ochsenbein-Kölble, Franziska Krähenmann, Margret Hüsler, Martin Meuli, Ueli Moehrlen, Lucca Mazzone, Peter Biro, Roland Zimmermann
INTRODUCTION: To compare tocolysis with magnesium sulfate versus atosiban regarding the occurrence of short-term preterm labor and maternal side effects during and after open fetal myelomeningocele (MMC) repair. MATERIAL AND METHODS: A prospective nonrandomized cohort study was performed including 30 fetal MMC cases. The first 15 cases (group 1) received magnesium sulfate according to the MOMS protocol. In the following 15 cases (group 2), magnesium sulfate was substituted by atosiban...
August 17, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28813080/the-relationship-between-motor-function-cognition-independence-and-quality-of-life-in-myelomeningocele-patients
#2
Carolina Lundberg Luz, Maria Clara Drummond Soares de Moura, Karine Kyomi Becker, Rosani Aparecida Antunes Teixeira, Mariana Callil Voos, Renata Hydee Hasue
Motor function, cognition, functional independence and quality of life have been described in myelomeningocele patients, but no study has investigated their relationships. We aimed to investigate the relationships between motor function, cognition, functional independence, quality of life, age, and lesion level in myelomeningocele patients, and investigate the influence of hydrocephalus on these variables. We assessed 47 patients with the Gross Motor Function Measure (motor function), Raven's Colored Progressive Matrices (cognition), Pediatric Evaluation of Disability Inventory (functional independence) and the Autoquestionnaire Qualité de vie Enfant Imagé (quality of life)...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28782691/first-case-of-autonomic-dysrefleixa-following-elective-lower-thoracic-spinal-cord-transection-in-a-spina-bifida-adult
#3
Juanita Garces, Mansour Mathkour, Tyler Scullen, Lora Kahn, Erin Biro, Olawale A R Sulaiman, Roger Smith, Cuong J Bui
BACKGROUND: Spinal cord transection is a radical but effective treatment for highly selective cases of symptomatic spinal re-tethering in paraplegic spina bifida patients. Autonomic dysreflexia (AD) is a potentially life-threatening syndrome involving a dysregulated sympathetic discharge reflex commonly seen following cervical and high thoracic spinal cord injury leading to a disconnect between autonomic pathways above and below the lesion that can lead to severe complications including uncontrolled hypertension, bradycardia, stroke, and potentially death...
August 3, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28768252/amniotic-fluid-concentrations-of-glial-fibrillary-acidic-protein-do-not-correlate-with-prenatal-metrics-in-fetuses-with-myelomeningocele
#4
Aimee G Kim, Enrico Danzer, Julie S Moldenhauer, Nahla Khalek, Lauren E McClain, Lindsay N Waqar, Holly L Hedrick, Mark P Johnson, N Scott Adzick, William H Peranteau, Alan W Flake
INTRODUCTION: We investigated the correlation of amniotic fluid (AF) concentrations of glial fibrillary acidic protein (GFAP) with prenatal features of myelomeningocele (MMC) and neurodevelopmental outcome after fetal MMC (fMMC) surgery. MATERIALS AND METHODS: AF was collected during fMMC surgery between December 2012 and November 2015. AF-GFAP concentration was determined by ELISA. Retrospective chart review identified the characteristics of the defect. Data regarding delivery and 1-year neurodevelopmental outcome was collected from The Children's Hospital of Philadelphia fMMC Registry...
July 29, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28763312/3q29-chromosomal-duplication-in-a-neonate-with-associated-myelomeningocele-and-midline-cranial-defects
#5
Marley B Lawrence, Alexandra Arreola, Michael Cools, Scott Elton, Karen S Wood
No abstract text is available yet for this article.
July 31, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28743562/robotic-assisted-laparoscopic-artificial-urinary-sphincter-and-mace-procedure-on-a-pediatric-patient
#6
Paulo Renato Marcelo Moscardi, Natalia Ballesteros, Abd-El-Rahman Abd-El-Barr, Mariarita Salvitti, Miguel Castellan
OBJECTIVE: To describe robotic-assisted laparoscopic artificial urinary sphincter (RAL-AUS) placement and a Malone antegrade continent enema (MACE) procedure on a 6-year-old girl. PATIENTS AND RESULTS: Our patient is a 6-year-old girl with myelomeningocele. She was totally incontinent of urine and chronic constipated despite aggressive bowel regimen. Preoperative workup included renal and bladder ultrasound showing normal findings. Video-urodynamics was also obtained showing low leak point pressure (25 cm H2O) with no reflux...
July 8, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28735706/amniotic-fluid-transcriptomics-reflects-novel-disease-mechanisms-in-fetuses-with-myelomeningocele
#7
Tomo Tarui, Aimee Kim, Alan Flake, Lauren McClain, John Stratigis, Inbar Fried, Rebecca Newman, Donna K Slonim, Diana W Bianchi
BACKGROUND: Cell-free RNA in amniotic fluid supernatant reflects developmental changes in gene expression in the living fetus, which includes genes that are specific to the central nervous system. Although it has been previously shown that central nervous system-specific transcripts are present in amniotic fluid supernatant, it is not known whether changes in the amniotic fluid supernatant transcriptome reflect the specific pathophysiologic condition of fetal central nervous system disorders...
July 20, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28734746/spina-bifida-management
#8
Leslie A Phillips, Justin M Burton, Sarah Helen Evans
Myelomeningocele, commonly known as spina bifida, is a birth defect in which the spinal cord does not develop properly due to incomplete closure of the neural tube at 28 days of gestation. With advances in treatment modalities, technologies, and medical knowledge, people with spina bifida in the United States are living well into adulthood. Myelomeningocele management includes life-long comprehensive neurologic, urologic, musculoskeletal, skin, and habilitation management. We describe approaches to the same, with an emphasis on the signs and symptoms of medical urgencies and emergencies of which every pediatrician must be aware...
July 19, 2017: Current Problems in Pediatric and Adolescent Health Care
https://www.readbyqxmd.com/read/28716326/disease-specific-outcomes-of-botulinum-toxin-injections-for-neurogenic-detrusor-overactivity
#9
REVIEW
Aaron Kaviani, Rose Khavari
Intradetrusor injection of botulinum toxin A (BTX-A) is an effective option for managing patients with neurogenic detrusor overactivity (NDO) who do not respond to or tolerate oral pharmacologic agents. There is level I evidence that intradetrusor injection of onabotulinumtoxinA for refractory NDO in patients with multiple sclerosis and spinal cord injury is associated with a significantly greater achievement of goals and improved performance in urodynamic studies than placebo. Pilot studies or small case series support BTX-A for NDO in patients with Parkinson's disease and cerebrovascular accident...
August 2017: Urologic Clinics of North America
https://www.readbyqxmd.com/read/28716320/evaluation-and-lifetime-management-of-the-urinary-tract-in-patients-with-myelomeningocele
#10
REVIEW
Diana Cardona-Grau, George Chiang
In the United States, there are an estimated 25,000 children ages 0 to 19 years and about 166,000 of all ages currently affected by spina bifida. Management is multimodal and can be complex. Management techniques vary throughout a child's lifetime, but the goals remain the same: prevention of urinary tract infections and establishing acceptable continence. Continence is addressed as the child reaches school age. Additional considerations such as development of urolithiasis and the associated burden are highlighted in adolescence and into adulthood...
August 2017: Urologic Clinics of North America
https://www.readbyqxmd.com/read/28714784/the-management-of-paediatric-neurogenic-bladder-an-approach-in-a-resource-poor-setting
#11
Patrick Opoku Manu Maison, John Lazarus
BACKGROUND: If untreated, paediatric neurogenic bladder can cause renal failure and urinary incontinence. It is usually caused by neural tube defects such as myelomeningocele. Children with a neurogenic bladder should be monitored from birth and management should aim to preserve renal function and achieve social continence. This article outlines the management options appropriate for these children in resource-poor settings. ASSESSMENT: In most low- and middle-income countries, a general lack of awareness of the neurological effects on the urinary tract results in late presentation, usually with urological complications even when spina bifida is diagnosed early...
July 17, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28689244/changes-in-management-of-poorly-compliant-bladder-in-botulinum-toxin-a-era
#12
REVIEW
Nachiketh Soodana Prakash, Diana M Lopategui, Christopher Gomez
Bladder compliance is a measure of distensibility. Maladies such as myelodysplasia, myelomeningocele, spinal cord injury, multiple sclerosis and obstructive uropathy are known to decrease bladder compliance. Decrease in bladder compliance is a characteristic of neurogenic bladders. The pathophysiology of bladder compliance is complex but ultimately leads to high pressure during filling and storage phases. These high pressures lead to renal impairment, incontinence, and recurrent urinary tract infections. This review presents management of poorly compliant bladders with onabotulinumtoxinA...
August 2017: Current Urology Reports
https://www.readbyqxmd.com/read/28687411/systematic-review-of-bladder-cancer-outcomes-in-patients-with-spina-bifida
#13
K O Rove, D A Husmann, D T Wilcox, G J Vricella, T T Higuchi
BACKGROUND: In patients with congenital bladder anomalies, bladder augmentation is used as a last resort to reduce intravesical pressure, but concerns about malignant transformation in augmented patients were first raised in the 1980s. The best evidence to date indicates that augmentation does not appear to increase the risk of bladder cancer in spina bifida patients. To date, oncologic outcomes from patients with spina bifida with and without augmentation have only been available in small case reports...
June 1, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28686331/neural-tube-defects-in-waardenburg-syndrome-a-case-report-and-review-of-the-literature
#14
Joseph Hart, Kalpana Miriyala
Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28676974/long-term-evaluation-of-intraoperative-neurophysiological-monitoring-assisted-tethered-cord-surgery
#15
S E Dulfer, G Drost, F Lange, H L Journee, F H Wapstra, E W Hoving
PURPOSE: Patients with tethered spinal cord have been investigated for short-term effects after tethered spinal cord surgery in the past. However, little is known about the long-term effects in this patient group. In this retrospective, longitudinal, observational study, a patient sample of a previous report of 65 patients was reassessed to observe the long-term effects of intraoperative neurophysiological monitoring-assisted tethered cord surgery. METHODS: With the use of patient charts and a survey, patients were scored on four domains: (1) neurological deficits, (2) urological deficits, (3) pain symptoms, and (4) orthopedic deficits...
July 4, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28673062/long-term-outcomes-of-augmentation-enterocystoplasty-in-patients-with-end-stage-bladder-diseases-a-single-institute-experience-involving-102-patients
#16
Shu-Yu Wu, Yuan-Hong Jiang, Hann-Chorng Kuo
PURPOSE: Augmentation enterocystoplasty (AE) has been shown to improve clinical symptoms in patients with end-stage bladder disease (ESBD). Herein, we report the long-term outcomes of a series of patients with different etiologies of ESBD who received AE. METHODS: We retrospectively reviewed 102 patients with ESBD who received AE at the Hualien Tzu Chi General Hospital from 1992 to 2014. ESBD in this study was defined as including neurogenic lower urinary tract dysfunction (NLUTD) due to spinal cord injury (SCI) or myelomeningocele, inflammatory bladder disease (IBD), ESBD occurring after pelvic cancer surgery, and other etiologies...
June 2017: International Neurourology Journal
https://www.readbyqxmd.com/read/28668954/lipoencephalocele-in-a-child-an-uncommon-swelling-in-the-occipital-region
#17
Ajay Kumar Verma, Anand Pandey, Digamber Chaubey, Kanoujia Sunil, Archika Gupta, Shiv Narain Kureel
Neural tube defects are common congenital malformations of the central nervous system. The 3 most common neural tube defects are anencephaly, myelomeningocele, and encephalocele. Lipoencephalocele is an extremely uncommon entity with sporadic reports in the literature. We treated a 4-year-old gild with occipital lipoencephalocele. This report presents the clinical presentation and management of the patient along with a review of the relevant literature.
2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28656385/health-related-quality-of-life-in-non-paraplegic-ambulatory-children-with-myelomeningocele
#18
Huseyin Canaz, Gokhan Canaz, Irem Dogan, Ibrahim Alatas
PURPOSE: Evaluation of the effects of ventriculoperitoenal shunt and incontinence presence on health-related quality of life of ambulatory myelomeningocele patients. METHODS: The study group included 35 myelomeningocele patients, between 5 and 18 years old (mean age = 9.6), who were neonatally operated. All patients were ambulatory. The Child Edition of the Child Health and Illness Profile (CHIP-CE) used to evaluate the patient group. Seventeen patients were using clean intermittent catheterization and nine patients had ventriculoperitoneal shunt...
June 27, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28655526/agreement-between-electronic-medical-records-and-self-reported-urologic-domains-in-the-national-spina-bifida-patient-registry-nsbpr-implications-for-future-research
#19
Christopher G Halline, Theresa Meyer, Ilina Rosoklija, Elizabeth B Yerkes
BACKGROUND: Self-report (SR) is an efficient data collection method. However, SR data have been shown to be discrepant with medical record (MR) documentation, which raises questions about using SR to supplement retrospective chart review in research. In this study, pediatric spina bifida (SB) patients who completed SR interviews about continence status and personal bladder/bowel management were identified. We examined agreement between SR data and Urology provider notes in MRs. OBJECTIVE: This study aimed to (1) identify demographic, medical, or methodological factors that might contribute to SR/MR disagreement; (2) postulate how these findings might be significant clinically; and (3) recommend improvements to SR data collection and MR documentation...
June 15, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28617430/physician-views-regarding-the-benefits-and-burdens-of-prenatal-surgery-for-myelomeningocele
#20
R M Antiel, C A Collura, A W Flake, M P Johnson, N E Rintoul, J D Lantos, F A Curlin, J C Tilburt, S D Brown, C Feudtner
OBJECTIVE: Examine how pediatric and obstetrical subspecialists view benefits and burdens of prenatal myelomeningocele (MMC) closure. STUDY DESIGN: Mail survey of 1200 neonatologists, pediatric surgeons and maternal-fetal medicine specialists (MFMs). RESULTS: Of 1176 eligible physicians, 670 (57%) responded. Most respondents disagreed (68%, 11% strongly) that open fetal surgery places an unacceptable burden on women and their families. Most agreed (65%, 10% strongly) that denying the benefits of open maternal-fetal surgery is unfair to the future child...
June 15, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
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