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Spina bifida

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https://www.readbyqxmd.com/read/29774817/bladder-reconstruction-with-bowel-robot-assisted-laparoscopic-ileocystoplasty-with-mitrofanoff-appendicovesicostomy-in-pediatric-patients
#1
Nimrod S Barashi, Maria Veronica Rodriguez, Vignesh T Packiam, Mohan S Gundeti
Neurogenic bladder occur as a consequence of several conditions, most commonly posterior urethral valves syndrome, spina bifida, tethered cord, sacral agenesis, and Arnold-Chiari malformation. It is characterized by diminished bladder capacity and/or reduced compliance, associated with high-pressure voiding that can lead to deterioration of renal function if left untreated. When medical management fails, bladder reconstruction with bowel (aumentation ileocystoplasty) becomes the treatment of choice for these patients...
May 2018: Journal of Endourology
https://www.readbyqxmd.com/read/29774462/combining-gfr-estimates-from-cystatin-c-and-creatinine-what-is-the-optimal-mix
#2
Emil den Bakker, Reinoud Gemke, Joanna A E van Wijk, Isabelle Hubeek, Birgit Stoffel-Wagner, Arend Bökenkamp
BACKGROUND: Combining estimated glomerular filtration rate (eGFR) equations based on creatinine and cystatin C has been shown to improve the accuracy of GFR estimation. This study aims to optimize this strategy for height-independent GFR estimation in children. METHODS: Retrospective study of 408 inulin clearance tests with simultaneous International Federation of Clinical Chemistry-calibrated measurements of creatinine, cystatin C, and urea in children (mean age 12...
May 17, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29757767/the-prevalence-of-scoliosis-in-spina-bifida-subpopulations-a-systematic-review
#3
Arne Heyns, Stefano Negrini, Katrien Jansen, Pierre Moens, Sebastiaan Schelfaut, Koenraad Peers, Carlotte Kiekens
Prevalence of scoliosis within spina bifida subpopulations is important for diagnostics and therapeutic purposes. This review determined the prevalence of scoliosis within spina bifida subpopulations by means of a systematic literature review by using the following databases: Medline-Pubmed, Embase, Cochrane and Pedro. All Dutch- and English-written literature using the MESH-terms: "Spinal Dysraphism", "Neural Tube Defects", "Scoliosis" was analysed using the exclusion criteria: animal studies, case reports, studies regarding the prevalence of spina bifida among patients with scoliosis, studies with inclusion of patients with scoliosis <11° without possibility to identify subgroups with scoliosis >10°, studies without an own study group, articles comprising the same patient group as another article, neural tube defects besides spina bifida and articles without specification of spina bifida subtype...
May 11, 2018: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/29757766/comorbidities-associated-with-early-mortality-in-adults-with-spina-bifida
#4
Brad E Dicianno, Adam Sherman, Christian Roehmer, Christina K Zigler
OBJECTIVE: The purpose of this quality improvement project was to identify secondary conditions and medical comorbidities in adult patients with spina bifida and to determine which factors were associated with an earlier age of death. DESIGN: Retrospective chart review of 487 patients who attended the University of Pittsburgh Medical Center (UPMC) Adult Spina Bifida Clinic between August 1, 2005 and June 6, 2017. RESULTS: Out of 487 patients who had received care at the UPMC Adult Spina Bifida Clinic, 48 were deceased...
May 11, 2018: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/29757450/a-case-report-of-a-4-year-old-boy-with-intradural-spinal-cord-abscess-successfully-treated-with-adjuvant-hyperbaric-oxygen-therapy
#5
Ayse Sahin, Mustafa Kilic, Nazan Dalgic
Intradural spinal cord abscesses are rare infections in early childhood and usually result from pre-existing congenital anomalies of the spinal column. The formation of abscess may be the result of hematogenous spread. It is treated by surgical and parenteral antibiotic treatment, but some special cases may require additional treatments. This article presents a 4-year-old male patient who was operated because of spina bifida (meningocele and tethered cord) at the external center, and upon complains of not being able to walk after one month, he was operated with the diagnosis of spinal intradural abscess and referred to us to continue his treatment...
April 26, 2018: Turkish Neurosurgery
https://www.readbyqxmd.com/read/29753923/prevalence-of-valproate-syndrome-in-europe-from-2005-to-2014-a-registry-based-multi-centre-study
#6
Joan K Morris, Ester Garne, Maria Loane, Marie-Claude Addor, Ingeborg Barisic, Fabrizio Bianchi, Miriam Gatt, Monica Lanzoni, Catherine Lynch, Olatz Mokoroa, Vera Nelen, Amanda Neville, Mary T O'Mahony, Hanitra Randrianaivo-Ranjatoelina, Anke Rissmann, David Tucker, H E K de Walle, Nataliia Zymak-Zakutnia, Judith Ankin
Women with epilepsy need to continue to take anticonvulsants during their pregnancies to prevent seizures from occurring. Since the 1980's, it has been known that the use of valproate (an anticonvulsant) in the first trimester of pregnancy is associated with an increased risk of spina bifida. Recent studies have also demonstrated increased risks of other congenital anomalies as well as a risk of cognitive impairment. Doctors in the EU are now advised not to prescribe valproate in pregnant women, in women who can become pregnant or in girls unless other treatments are ineffective or not tolerated...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29753920/projected-number-of-children-with-isolated-spina-bifida-or-down-syndrome-in-england-and-wales-by-2020
#7
Kate E Best, Svetlana V Glinianaia, Raghu Lingam, Joan K Morris, Judith Rankin
Children with major congenital anomalies often require lifelong access to health and social care services. Estimating future numbers of affected individuals can aid health and social care planning. This study aimed to estimate the number of children aged 0-15 years living with spina bifida or Down syndrome in England and Wales by 2020. Cases of spina bifida and Down syndrome born during 1998-2013 were identified from the Northern Congenital Abnormality Survey and the National Down Syndrome Cytogenetic Register, respectively...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29748330/children-with-spina-bifida-in-eastern-uganda-report-a-reasonable-quality-of-life-relative-to-their-healthy-school-attending-peers
#8
Helen J Sims-Williams, Hugh P Sims-Williams, Edith Mbabazi Kabachelor, Joshua Magombe, Benjamin C Warf
No abstract text is available yet for this article.
May 10, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29746860/intradetrusor-injections-of-botulinum-toxin-a-in-adult-patients-with-spinal-dysraphism
#9
Benoit Peyronnet, Alexia Even, Grégoire Capon, Marianne de Seze, Juliette Hascoet, Xavier Biardeau, Maximilien Baron, Marie-Aimée Perrouin-Verbe, Jean-Michel Boutin, Christian Saussine, Véronique Phé, Loic Lenormand, Emmanuel Chartier-Kastler, Jean-Nicolas Cornu, Gilles Karsenty, Andrea Manunta, Brigitte Schurch, Pierre Denys, Gérard Amarenco, Xavier Game
PURPOSE: The aim of the present study was to report the outcomes of botulinum toxin A (BTX-A) intradetrusor injections in adult patients with spina bifida. MATERIALS AND METHODS: All patients with spinal dysraphism who had undergone intradetrusor injections of BTX-A from 2002 to 2016 in 14 centers were included retrospectively. The primary endpoint was the global success of injections, defined subjectively as the combination of urgency, urinary incontinence and detrusor overactivity/low bladder compliance resolution...
May 7, 2018: Journal of Urology
https://www.readbyqxmd.com/read/29731315/multiple-neurosurgical-treatments-for-different-members-of-the-same-family-with-currarino-syndrome
#10
N Serratrice, L Fievet, F Albader, D Scavarda, H Dufour, S Fuentes
INTRODUCTION: Currarino's syndrome (CS) is an autosomal dominant disorder of embryonic development causing a rare malformating syndrome characterized by a triad of an anorectal malformations, presacral mass (most commonly an anterior sacral meningocele) and sacral bony defects. Mutations of the HLXB9 gene have been identified in most CS cases, but a precise genotype-phenotype correlation has not been described so far. Family screening is obligatory. The diagnosis is usually made during childhood and rarely in adulthood...
May 3, 2018: Neuro-Chirurgie
https://www.readbyqxmd.com/read/29730690/ultrasound-and-magnetic-resonance-imaging-in-the-prenatal-diagnosis-of-open-spina-bifida
#11
REVIEW
Romeo Micu, Anca Lucia Chicea, Dan Georgian Bratu, Paula Nita, Georgiana Nemeti, Radu Chicea
Open spina bifida, also known as spina bifida aperta is a neural tube defect involving the lack of closure of vertebral arches and associated meninges and/or spinal cord abnormalities.Ultrasound examination is the gold standard for the diagnosis of spina bifida aperta. It represents the main imaging tool used to ascertain this diagnosis early in gestation. Three-dimensional ultrasound is necessary to detect the level and the size of the defect. Magnetic resonance imaging (MRI) represents a more sensitive tool, giving specific information of the defect and associated anomalies, playing an important role in ruling out differential diagnosis...
May 2, 2018: Medical Ultrasonography
https://www.readbyqxmd.com/read/29725927/how-to-establish-a-successful-bowel-management-programme-in-children-a-tertiary-paediatric-centre-experience
#12
Ann M Costigan, Stephanie Orr, Abdulrahman E Alshafei, Brice A Antao
BACKGROUND: Bowel management is a term used to describe a medical approach to the management of faecal incontinence. AIMS: To present the outcomes of an individualised bowel management programme developed by a tertiary paediatric centre and evaluate contributory factors for successful bowel management in children. METHODS: A retrospective review of children attending a bowel management clinic in a tertiary centre in Dublin, Ireland, over 5 years (2010-2015)...
May 3, 2018: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/29713643/magnitude-of-neural-tube-defects-and-associated-risk-factors-at-three-teaching-hospitals-in-addis-ababa-ethiopia
#13
Abel Gedefaw, Sisay Teklu, Birkneh Tilahun Tadesse
There is scarcity of data on prevalence of neural tube defects (NTDs) in lower-income countries. Local data are important to understand the real burden of the problem and explore risk factors to design and implement preventive approaches. This study aimed to determine prevalence and risk factors of NTDs. A hospital-based cross-sectional and unmatched case-control study was conducted at three teaching hospitals of Addis Ababa University. NTDs were defined as cases of anencephaly, spina bifida, and encephalocele based on ICD-10 criteria...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29709445/predominant-bacteria-and-patterns-of-antibiotic-susceptibility-in-urinary-tract-infection-in-children-with-spina-bifida
#14
Tara K Ortiz, Nermarie Velazquez, Laura Ding, Jonathan C Routh, John S Wiener, Patrick C Seed, Sherry S Ross
BACKGROUND: Urinary tract infection is more common in children with spina bifida (SB) than neurologically intact children, and Escherichiacoli is the most common urinary pathogen in the general pediatric population. Less is known of the pathogens responsible for urinary tract infections (UTI) in the pediatric SB population or their evolving antimicrobial resistance patterns. The goal of this study is to determine the epidemiology and antimicrobial resistance patterns of SB-associated urinary pathogens...
April 20, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29696356/successful-endoscopic-third-ventriculostomy-in-children-depends-on-age-and-etiology-of-hydrocephalus-outcome-analysis-in-51-pediatric-patients
#15
Soner Duru, Jose L Peiro, Marc Oria, Emrah Aydin, Canan Subasi, Cengiz Tuncer, Harold L Rekate
PURPOSE: Endoscopic third ventriculostomy (ETV) has become the method of choice in the treatment of hydrocephalus. Age and etiology could determine success rates (SR) of ETV. The purpose of this study is to assess these factors in pediatric population. METHODS: Retrospective study on 51 children with obstructive hydrocephalus that underwent ETV was performed. The patients were divided into three groups per their age at the time of the treatment: < 6, 6-24, and > 24 months of age...
April 25, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29689339/mitochondrial-dysfunction-is-implicated-in-retinoic-acid-induced-spina-bifida-aperta-in-rat-fetuses
#16
Jia Xue, Hui Gu, Dan Liu, Wei Ma, Xiaowei Wei, Lianshuai Zhao, Yusi Liu, Chaonan Zhang, Zhengwei Yuan
Neural tube defects (NTDs) are the most common and severe congenital malformations, which result from failure of the neural tube to close during embryonic development. The etiology of NTDs is complex, caused by interactions between genetic defects and environmental factors, but the exact mechanisms of this disease are still not fully understood. We herein employ a Seahorse Bioscience microplate-based extracellular flux (XF) analyzer to determine mitochondrial function and quantify respiratory coupling to various bioenergetic functions using specific pharmacological inhibitors of bioenergetic pathways...
April 21, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29681267/spina-bifida
#17
REVIEW
Alvaro A Saavedra, Dawn Maclellan, Gary J Gray
No abstract text is available yet for this article.
April 2018: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/29681089/genetic-variation-in-biotransformation-enzymes-air-pollution-exposures-and-risk-of-spina-bifida
#18
Amy M Padula, Wei Yang, Kathleen Schultz, Fred Lurmann, S Katharine Hammond, Gary M Shaw
Spina bifida is a birth defect characterized by incomplete closure of the embryonic neural tube. Genetic factors as well as environmental factors have been observed to influence risks for spina bifida. Few studies have investigated possible gene-environment interactions that could contribute to spina bifida risk. The aim of this study is to examine the interaction between gene variants in biotransformation enzyme pathways and ambient air pollution exposures and risk of spina bifida. We evaluated the role of air pollution exposure during pregnancy and gene variants of biotransformation enzymes from bloodspots and buccal cells in a California population-based case-control (86 cases of spina bifida and 208 non-malformed controls) study...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29665042/neural-tube-defects-in-embryonic-life-lessons-learned-from-340-early-pregnancy-failures
#19
David R Hartge, Michael Gembicki, Achim Rody, Jan Weichert
OBJECTIVES: The aim of this study was to evaluate the feasibility of sonographic assessment of the embryonic/fetal neural tube in nonviable pregnancies and to determine the defect incidence. METHODS: Prospective analysis of transvaginally acquired 3-dimensional (3D) multiplanar and 3D surface-rendered volume sets of 340 cases of missed abortion between March 2010 and September 2015 was performed. Data regarding karyotype and postmortem examination as well as demographic features and the outcomes of subsequent pregnancies were evaluated...
April 17, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29660408/expansion-of-the-clinical-spectrum-of-frontometaphyseal-dysplasia-2-caused-by-the-recurrent-mutation-p-pro485leu-in-map3k7
#20
Alice Costantini, Carina Wallgren-Pettersson, Outi Mäkitie
Frontometaphyseal dysplasia 2 (FMD2) is a skeletal dysplasia with supraorbital hyperostosis combined with undermodeling of the bones, joint contractures and some extraskeletal features. It is caused by heterozygous mutations in MAP3K7, encoding the Mitogen-Activated Protein 3-Kinase 7. MAP3K7 is activated by TGF-β and plays an important role in osteogenesis. Less than 20 patients with FMD2 and MAP3K7 mutations have been described thus far. The majority of the patients harbor a recurrent missense mutation, NM_003188...
April 13, 2018: European Journal of Medical Genetics
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