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https://www.readbyqxmd.com/read/29432238/nervous-system-malformations
#1
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
https://www.readbyqxmd.com/read/29427561/cerebellar-herniation-demonstrated-by-the-occipitum-dens-line-ultrasonography-assessment-of-normal-fetuses-fetuses-with-myelomeningocele-and-fetuses-that-underwent-antenatal-myelomeningocele-surgery
#2
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
https://www.readbyqxmd.com/read/29410707/a-novel-proximal-3q29-chromosome-microdeletion-in-a-chinese-patient-with-chiari-malformation-type-ii-and-sprengel-s-deformity
#3
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
https://www.readbyqxmd.com/read/29393809/comparison-of-hydrocephalus-metrics-between-infants-successfully-treated-with-endoscopic-third-ventriculostomy-with-choroid-plexus-cauterization-and-those-treated-with-a-ventriculoperitoneal-shunt-a-multicenter-matched-cohort-analysis
#4
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
https://www.readbyqxmd.com/read/29377645/iniencephaly
#5
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
https://www.readbyqxmd.com/read/29372371/surgical-treatment-of-patients-with-myelomeningocele-related-spine-deformities-study-of-26-cases
#6
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
https://www.readbyqxmd.com/read/29371715/relationship-between-hydrocephalus-etiology-and-ventriculoperitoneal-shunt-infection-in-children-and-review-of-literature
#7
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
https://www.readbyqxmd.com/read/29360170/a-mendelian-form-of-neural-tube-defect-caused-by-a-de-novo-null-variant-in-smarcc1-in-an-identical-twin
#8
Fuad Al Mutairi, Fatema Alzahrani, Farouq Ababneh, Amna A Kashgari, Fowzan S Alkuraya
Neural tube defects (NTD) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTD are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian forms of NTD in which single variants are sufficient to cause the disease are extremely rare. We report a monozygotic twin with severe NTD (occipital encephalocele and myelomeningocele) and a shared de novo likely truncating variant in SMARCC1...
January 23, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29355795/surgical-management-of-myelomeningocele-related-spinal-deformities
#9
Sergey O Ryabykh, Olga M Pavlova, Dmitry M Savin, Alexander V Burcev, Alexander V Gubin
STUDY DESIGN: Retrospective cohort study OBJECTIVE: To evaluate optimal timing and type of surgical treatment of myelomeningocele-related spinal deformities. To provide long term follow-up of surgical treatment. METHODS: We reviewed and presented clinical pictures, treatment strategies and results of 20 patients with myelomeningocele-related spinal deformities, treated at the Ilizarov Center (Kurgan, Russia) from 2010 to 2017. RESULTS: Average age was 6...
January 17, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29333813/body-composition-and-energy-expenditure-in-a-population-of-children-and-adolescents-with-myelomeningocele
#10
Carolina Caminiti, Carola Saure, Julieta Weglinski, Fernanda de Castro, Liliana Campmany
INTRODUCTION: Myelomeningocele is a congenital defect that occurs when the neural tube fails to close completely. It causes body composition alterations and a high prevalence of obesity. It is difficult to detect the most adequate indicator for a nutritional diagnosis due to the impossibility of recording accurate anthropometric measurements. OBJECTIVE: To describe body composition, resting energy expenditure and metabolic disorders in a population of patients with myelomeningocele managed at "Hospital Garrahan" by comparing obese patients with myelomeningocele and a control population with multifactorial obesity...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29321944/myelomeningocele-with-unilateral-right-renal-agenesis-a-case-report
#11
Hajime Maeda, Hayato Go, Jun Sakuma, Takashi Imamura, Maki Sato, Nobuo Momoi, Mitsuaki Hosoya
Congenital anomalies of the spine may occur with malformations of the central nervous, cardiovascular, gastrointestinal, respiratory, and genitourinary systems. This is a case of myelomeningocele with unilateral right renal agenesis in a newborn. The patient suffered complications of cerebrospinal fluid leak and meningitis, but was successfully treated and discharged on day 86. In this case, unilateral right renal agenesis represented a significant surgical risk because failure of the remaining kidney could result in renal failure...
January 2018: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29319575/duplex-ultrasonography-assisted-freestyle-pedicled-perforator-flaps-for-the-repair-of-myelomeningocele-defects
#12
Atsushi Imaizumi
BACKGROUND: Perforator flaps have unique advantages that may overcome the shortcomings of conventional approaches to myelomeningocele reconstruction. However, identifying and dissecting tiny perforators in neonates is arduous. We have overcome these obstacles with a freestyle flap approach that uses duplex ultrasonography to locate perforator vessels, allowing for limited superficial dissection. This report describes the duplex ultrasonography-assisted freestyle pedicled perforator flap technique for closure of myelomeningocele defects, with long-term clinical outcomes...
January 9, 2018: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29316543/the-use-of-external-ventricular-drainage-to-reduce-the-frequency-of-wound-complications-in-myelomeningocele-closure
#13
Michael M McDowell, Philip S Lee, Kimberly A Foster, Stephanie Greene
INTRODUCTION: Myelomeningocele (MMC) is an open neural tube defect routinely surgically closed within 48 h of birth to prevent secondary infection. Up to 18% of patients experience wound complications, and 85% require shunting for hydrocephalus. We hypothesized that wound complications could be reduced by cerebrospinal fluid (CSF) diversion at the time of closure. METHODS: Institutional review board approval was obtained to review records of the 88 patients who underwent MMC closure between January 2005 and June 2016 at the Children's Hospital of Pittsburgh...
January 10, 2018: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29314321/percutaneous-fetoscopic-closure-of-large-open-spina-bifida-using-a-bilaminar-skin-substitute
#14
Denise A Lapa Pedreira, Gregório L Acacio, Rodrigo T Gonçalves, Renato Augusto M Sá, Reynaldo A Brandt, Ramen Chmait, Eftichia Kontopoulos, Ruben A Quintero
OBJECTIVE: We have previously described our percutaneous fetoscopic technique for the treatment of open spina bifida (OSB). However, approximately 20-30% of OSB defects are too large to allow primary skin closure. We hereby describe a modification of our standard technique using a bilaminar skin substitute to allow closure of such large spinal defects. The aim of this study was to report our clinical experience with the use of a bilaminar skin substitute and a percutaneous fetoscopic technique for the prenatal closure of large spina bifida defects...
January 4, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29313712/energy-efficiency-in-children-with-myelomeningocele-during-acute-use-of-assistive-devices-a-pilot-study
#15
Jennifer K Sansom, Beverly D Ulrich
Due to increased metabolic demands during walking, ∼50% of children with myelomeningocele transition to wheelchair use during adolescence/early adulthood. The purpose of our pilot study involving children with myelomeningocele was to determine: (a) energy expenditure needs during acute use of common assistive devices and (b) if walking poles are a feasible assistive device. Oxygen uptake was recorded for eight (5-12 years old) children in four conditions: independent, walker, crutches, and poles. Acute pole use did not significantly differ from independent walking net energy consumption or cost...
January 9, 2018: Adapted Physical Activity Quarterly: APAQ
https://www.readbyqxmd.com/read/29302380/a-case-of-fatal-pulmonary-hypoplasia-with-congenital-diaphragmatic-hernia-thoracic-myelomeningocele-and-thoracic-dysplasia
#16
Ai Ito, Hideshi Fujinaga, Sachiko Matsui, Kumiko Tago, Yuka Iwasaki, Shuhei Fujino, Junko Nagasawa, Shoichiro Amari, Masao Kaneshige, Yuka Wada, Shigehiro Takahashi, Keiko Tsukamoto, Osamu Miyazaki, Takako Yoshioka, Akira Ishiguro, Yushi Ito
Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care...
October 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29284599/spinal-arteriovenous-vascular-malformations-in-patients-with-neural-tube-defects
#17
E Giordan, C Bortolotti, G Lanzino, W Brinjikji
BACKGROUND AND PURPOSE: Neural tube defects, such as tethered cord, intradural lipoma, or myelomeningocele may coexist with spinal vascular malformations. The coexistence of these 2 rare entities is suggestive of a causal relationship between them, which may lead to further understanding of their pathogenesis. We present a series of 6 patients with epidural spinal arteriovenous fistulas associated with neural tube defects. MATERIALS AND METHODS: We retrieved cases of spinal vascular malformations associated with neural tube defects seen at our institution...
December 28, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29249073/medical-and-socioeconomic-predictors-of-quality-of-life-in-myelomeningocele-patients-with-shunted-hydrocephalus
#18
Brij S Karmur, Abhaya V Kulkarni
INTRODUCTION: Children with myelomeningocele (MMC) often develop hydrocephalus, and the combination of these conditions can lead to psychosocial, cognitive, and physical health issues that decrease their health-related quality of life (HRQOL). The goal of the present study was to understand the QOL in patients with MMC and shunted hydrocephalus. METHODS: Data from the Toronto Hydrocephalus QOL Database was acquired between 2004 and 2009 using parent-completed questionnaires and, when appropriate, child-completed questionnaires: Hydrocephalus Outcome Questionnaire (HOQ) and the Health Utilities Index...
December 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29248276/pre-operative-risk-factors-for-stomal-stenosis-with-malone-antegrade-continence-enema-procedures
#19
A J Rensing, J F Koenig, P F Austin
INTRODUCTION: The Malone antegrade continence enema (MACE) procedure remains an effective tool in providing independence to patients with refractory constipation. Appendiceal, ileal and colonic segments are all used depending upon the patient's individual anatomy and surgeon's preference. Unfortunately, MACE stomal stenosis (SS) remains a frustrating complication. It was hypothesized that SS is associated with the type of efferent limb used for MACE construction. OBJECTIVE: To perform a retrospective risk analysis of the pre-operative factors that correlated with postoperative stomal stenosis...
December 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29246577/the-management-of-myelomeningocele-study-full-cohort-30-month-pediatric-outcomes
#20
Diana L Farmer, Elizabeth A Thom, John W Brock, Pamela K Burrows, Mark P Johnson, Lori J Howell, Jody A Farrell, Nalin Gupta, N Scott Adzick
BACKGROUND: Previous reports from the Management of Myelomeningocele Study (MOMS) demonstrated that prenatal repair of myelomeningocele reduces hindbrain herniation, the need for cerebrospinal fluid shunting, and improves motor function in children with myelomeningocele. The trial was stopped for efficacy after 183 patients had been randomized, but 30-month outcomes were only available at the time of initial publication in 134 mother-child dyads. Data from the complete cohort for the 30-month outcomes are presented here...
December 12, 2017: American Journal of Obstetrics and Gynecology
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