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Juliette Hascoet, Benoit Peyronnet, Véronique Forin, Maximilien Baron, Grégoire Capon, Thomas Prudhomme, Clément Allenet, Simon Tournier, Charlotte Maurin, Jean-Nicolas Cornu, Ourdia Bouali, Matthieu Peycelon, Alexis Arnaud, Mariette Renaux-Petel, Agnès Liard, Gilles Karsenty, Andrea Manunta, Xavier Game
OBJECTIVE: To assess the effectiveness of Intradetrusor injections of botulinum toxin type A (IDBTX-A) in children with spina bifida. PATIENTS AND METHODS: All patients aged under 16 year-old who underwent IDBTX-A between 2002 and 2016 at six institutions were included in a retrospective study. Our primary endpoint was the success rate of IDBTX-A defined as both clinical improvement (no incontinence episodes between clean-intermittent catheterization (CIC), absence of urgency, less than 8 CIC per day)) and urodynamic improvement (resolution of derusor overactivity, normal bladder compliance for age) lasting ≥ 12 weeks...
March 6, 2018: Urology
Jason S Hauptman, Robert Bollo, Rama Damerla, Brian Gibbs, Cecilia Lo, Aviva Katz, Stephanie Greene
Myelomeningocele and gastroschisis, on their own, are both relatively common entities encountered in pediatric surgical care. Coexistence of these pathologies, however, is exceedingly rare. The authors report on 2 patients who presented with myelomeningocele and gastroschisis at birth. They obtained blood for whole-exome analysis for one of the patients and identified 3 mutations that could be related to the underlying anomalies: homozygous mutations in FAM171B and ABCA1 and a hemizygous (X-linked) mutation in COL4A5...
March 9, 2018: Journal of Neurosurgery. Pediatrics
Daigo Ochiai, Hirotaka Masuda, Yushi Abe, Toshimitsu Otani, Marie Fukutake, Tadashi Matsumoto, Kei Miyakoshi, Mamoru Tanaka
Mesenchymal stem cells (MSCs) have generated great interest in the fields of regenerative medicine and immunotherapy because of their unique biological properties. Among MSCs, amniotic fluid stem cells (AFS) have a number of characteristics that make them attractive candidates for tissue engineering and cell replacement strategies, particularly for perinatal medicine. If various neonatal conditions, including birth asphyxia, preterm birth, and congenital abnormalities, which result in long-lasting severe impairments, could be predicted during pregnancy, it would allow collection of small samples of amniotic fluid cells by amniocentesis...
March 6, 2018: Keio Journal of Medicine
Leticia Bignardi, Talita Prates, Andiara De Rossi, Paulo Nelson-Filho, Fabrício Kitasono de Carvalho, Talitha de Siqueira Mellara, Alexandra Mussolino de Queiroz
Myelomeningocele (MMC) is a congenital malformation that occurs in the embryonic period, characterized by failure in closure of the caudal portion of the neural tube during central nervous system formation. Alterations and complications can be associated with this condition, such as hydrocephalus, neurogenic bladder, orthopedic problems, and motor and cognitive impairment. This patients with MMC also have predisposition to develop latex allergy and high caries risk and activity due to deficient oral hygiene, fermentable carbon hydrate-rich diet and prolonged use of sugar-containing oral medications...
March 7, 2018: Special Care in Dentistry
Vinod Kumar Tewari, Rituj Somvanshi, Ravindra Bihari Trivedi, Mazhar Hussain, H K Das Gupta, R S Dubey
Tethering of the spinal cord in the lumbosacral region with myelomeningocele is a well-known phenomenon. Only sporadic cases of tethering along the rest of the neuraxis, including the hindbrain, cervical, and thoracic spinal cord have been documented, always along with some associated congenital malformations (hydrocephalus, Chiari malformation, myelomeningocele, meningocele, hamartomatous stalk, spina bifida occulta, intramedullary lipoma, intradural fibrous adhesions, the fusion of the sixth and seventh cervical vertebrae, split cord malformation, or low-lying cord)...
January 2018: Asian Journal of Neurosurgery
Yair J Blumenfeld, Michael A Belfort
PURPOSE OF REVIEW: To examine updates in fetal spina bifida surgical repair, as well as promising results emerging from translational medicine. RECENT FINDINGS: Although the Management of Myelomeningocele Study sponsored by the National Institutes of Health helped establish the neonatal benefits of prenatal spina bifida repair via uterine hysterotomy, also known as 'open' fetal surgery, fetoscopic approaches may yield better maternal and obstetric outcomes. SUMMARY: Spina bifida is a severe congenital malformation associated with significant neonatal and childhood morbidity and mortality...
April 2018: Current Opinion in Obstetrics & Gynecology
Giulia I Lane, Ronak A Gor, Jenna Katorski, Sean P Elliott
AIMS: Neurogenic bladders (NGB) with detrusor leak point pressures >40 cm H2 O (dLPP > 40) have been associated with deterioration of renal function in children with myelomeningocele. For these children, careful pressure management preserves renal function. However, similar evidence is lacking in adult congenital urology (ACU) patients with NGB. We describe renal functional outcomes of non-surgical management of adults with dLPP > 40 or premicturition detrusor pressure (PMDP) >40 cm H2 O, consisting of close follow-up with urodynamic studies (UDS) and renal ultrasound (RUS), paired with adjustments to clean intermittent catheterization (CIC) frequency, anticholinergics, and addition of onabotulinumtoxinA toxin (BTX) injection...
February 28, 2018: Neurourology and Urodynamics
Charlotte Rosenkrantz Bodin, Mikkel Mylius Rasmussen, Ann Tabor, Lena Westbom, Eleonor Tiblad, Charlotte Kvist Ekelund, Camilla Bernt Wulff, Ida Vogel, Olav Bjørn Petersen
Objectives: The aim of this study was to assess the incidence, the prenatal detection rate by ultrasound, and the pregnancy outcome of spina bifida (SB) in Denmark (DK) in 2008-2015 and to compare results to national data from Sweden. Methods: Data were retrieved from the Danish Fetal Medicine Database, which includes International Classification of Diseases- (ICD-) 10 codes for pre- or postnatally diagnoses and pregnancy outcome. Missing data were obtained from the National Patient Register...
2018: BioMed Research International
Marisa Maia Leonardi-Figueiredo, Mariana Angélica de Souza, Elisangela Aparecida da Silva Lizzi, Luciano Fonseca Lemos de Oliveira, Julio Cesar Crescencio, Pedro Vellosa Schwartzmann, Lourenço Gallo, Ana Claudia Mattiello-Sverzut
PURPOSE: We analyzed the evolution and pattern of heart rate (HR) during the 12-minute wheelchair propulsion field test (WPFT) and compared the peak HR (HRpeak ) from the WPFT to the HRpeak obtained in the progressive cardiopulmonary exercise test on arm cranking ergometer (ACT). We aimed to determine if the field test detects the HRpeak consistently and could be used in clinical practice. METHODS: Eleven wheelchair-using children and adolescents with myelomeningocele (aged 8-15 y) performed a maximal ACT and a 12-minute WPFT...
February 27, 2018: Pediatric Exercise Science
A B de Sá, L C Oliveira, R Camilo, F F Pierotti, D Solé
Background. Microarray technique employing molecular allergens is pointed out as a new method to evaluate allergic patients. Objective. To evaluate if microarray technique (ImmunoCAP-ISAC®; I-ISAC®) is similar to fluorescence enzyme immunoassay (FEIA; ImmunoCAP®) in the diagnosis of latex allergy (specific IgE to latex plus symptoms) and latex sensitization (only antibody) in pediatric (9-mo to 14-yrs) patients with myelomeningocele undergone to surgical repair. Methods. Patients underwent skin prick testing (SPT) to latex and food (prick to prick), and dosage of serum specific IgE to latex and recombinant latex allergens (rHev b 1, rHev b 3, rHev b 5, rHev b 6...
January 15, 2018: European Annals of Allergy and Clinical Immunology
Lucie Guilbaud, Charles Garabedian, Nathalie Roux, Stéphanie Friszer, Ferdinand Dhombres, Raphaël Vialle, Zoobia Shah, Bettina Bessières, Federico Di Rocco, Michel Zerah, Jean-Marie Jouannic
OBJECTIVE: The aim of this study was to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele (MMC) repair with a running single suture using a 2-port access in the sheep model. METHODS: Eighteen fetuses underwent surgical creation of a MMC defect at day 75. Fetuses were then randomized into 3 groups. Four fetuses remained untreated (control group). In the other 14 fetuses, a prenatal repair was performed at day 90: 7 fetuses had an open repair (oMMC), and 7 fetuses had a fetoscopic repair (fMMC) using a single-layer running suture through a 2-port access...
February 21, 2018: Fetal Diagnosis and Therapy
Sarah B Cairo, Justice Agyei, Kavira Nyavandu, David H Rothstein, Luc Malemo Kalisya
PURPOSE: Evaluate the management of hydrocephalus in pediatric patients in the Eastern Democratic Republic of Congo by a general surgeon. METHODS: Retrospective review of a single institution in the province of North Kivu. Patient charts and surgical notes were reviewed from 2003 to 2016. RESULTS: 116 procedures were performed for an average of 8.9 per year. 51.7% of surgeries were on female patients with an average age of 13.6 ± 22.7...
February 16, 2018: Pediatric Surgery International
Francesca Burro, Armando Cama, Vicenza Lertora, Edvige Veneselli, Serena Rossetti, Lina Pezzuti
We studied the intellectual profiles of 13 Italian children diagnosed with spina bifida myelomeningocele and shunted hydrocephalus (MMC HC) against a control group of children. The results showed that MMC HC group had lower performance in all subtests, four indices, and the FSIQ of the Wechsler Intelligence Scale for Children, forth-edition. The MMC HC group showed flat cognitive profiles between subtests within each index and between four core indices. However, the cognitive abilities that were mostly impaired seemed to be related to visual selective and focused attention, to visual acuity, to visuo-perceptive organization and visuomotor integration and to visual short-term memory...
February 16, 2018: Developmental Neuropsychology
John Gaitanis, Tomo Tarui
PURPOSE OF REVIEW: This article provides an overview of the most common nervous system malformations and serves as a reference for the latest advances in diagnosis and treatment. RECENT FINDINGS: Major advances have occurred in recognizing the genetic basis of nervous system malformations. Environmental causes of nervous system malformations, such as perinatal infections including Zika virus, are also reviewed. Treatment for nervous system malformations begins prior to birth with prevention...
February 2018: Continuum: Lifelong Learning in Neurology
Enoch Quinderé de Sá Barreto, Sérgio Cavalheiro, Herbene José Figuinha Milani, Maurício Mendes Barbosa, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza, Antonio Fernandes Moron
OBJECTIVE: To establish a method to quantify the position of the cerebellum by ultrasonography in normal fetuses, fetuses with myelomeningocele (MMC), and fetuses that underwent in utero MMC repair. METHODS: Reference points identifiable on ultrasound were established. The basilar portion of the occipital bone and upper portion of the odontoid process were considered as the external and internal limits, respectively, of the level zero of a line that was designated the occipitum-dens line (ODL)...
February 10, 2018: Prenatal Diagnosis
Shuai Guo, Xue-Feng Fan, Jie-Yuan Jin, Liang-Liang Fan, Lei Zeng, Zheng-Bing Zhou, Rong Xiang, Ju-Yu Tang
Background: Chiari malformation type II (CM-II) is mainly characterized by elongation and descent of the cerebellum through the foramen magnum into the spinal canal. Moreover, CM-II is uniquely associated with myelomeningocele. Sprengel's deformity refers to the malposition of the scapula, i.e. scapular elevation which is sometimes accompanied with scapula dysplasia. Although few familial cases of CM-II and Sprengel's deformity have been previously reported, both of these defects are considered to be sporadic, thus the exact etiology and causative genes have largely remained unknown...
2018: Molecular Cytogenetics
Michael C Dewan, Jaims Lim, Stephen R Gannon, David Heaner, Matthew C Davis, Brandy Vaughn, Joshua J Chern, Brandon G Rocque, Paul Klimo, John C Wellons, Robert P Naftel
OBJECTIVE It has been suggested that the treatment of infant hydrocephalus results in different craniometric changes depending upon whether ventriculoperitoneal shunt (VPS) placement or endoscopic third ventriculostomy with choroid plexus cauterization (ETV/CPC) is performed. Without an objective and quantitative description of expected changes to the infant cranium and ventricles following ETV/CPC, asserting successful treatment of hydrocephalus is difficult. By comparing infants successfully treated via ETV/CPC or VPS surgery, the authors of this study aimed to define the expected postoperative cranial and ventricular alterations at the time of clinical follow-up...
February 2, 2018: Journal of Neurosurgery. Pediatrics
Lewis B Holmes, M Hassan Toufaily, Marie-Noel Westgate
BACKGROUND: Iniencephaly is a severe developmental abnormality of the craniovertebral junction in which the head is retroflexed dramatically. Anatomic studies have identified striking changes in the vertebrae and skull: marked lordosis of the cervical vertebrae, duplicated cervical vertebrae, irregularly fused cervical vertebrae, a widened foramen magnum and a small posterior fossa. The affected infant appears to have no neck, as the skin of the face is continuous with the chest and the skin of the posterior scalp is continuous with the skin of the back...
January 2018: Birth defects research
Huseyin Canaz, Ibrahim Alatas, Gokhan Canaz, Gurkan Gumussuyu, Mehmet Akif Cacan, Ayten Saracoglu, Bekir Yavuz Ucar
INTRODUCTION: Scoliosis, kyphosis, and sacral agenesis (SA) are common spine deformities in myelomeningocele (MMC) patients. Surgery of spine deformities in MMC patients is associated with various difficulties as infection, pathological skin breakage, instrumentation failure, and neurological deterioration. The purposes of this study are to share our clinical experience and discuss different surgical techniques which are defined in the literature. PATIENTS AND METHOD: We retrospectively evaluated our database of patients with MMC who underwent surgical procedures for spine deformities from 2014 to 2016...
January 25, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Mehmet Arslan, Abdurrahman Aycan, Ismail Gulsen, Mehmet Edip Akyol, Fetullah Kuyumcu
OBJECTIVE: The purpose of this retrospective study was to clarify the relationship of shunt infection to childhood hydrocephalus etiology. METHODS: We analyzed 1021 patients with childhood hydrocephalus who underwent V-P shunting over a period of approximately 15 years. The etiology of 1021 patients include myelomeningocele (794 patient), congenital (165 patient) and intraventricular haemorrhage (62 patient). RESULTS: Of the 1021 patients who underwent V-P shunting, 19...
January 2018: JPMA. the Journal of the Pakistan Medical Association
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