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Spina bifida

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https://www.readbyqxmd.com/read/28810634/misdiagnosis-of-a-cloacal-exstrophy-variant-as-urorectal-septum-malformation-in-a-fetus-by-ultrasound-a-case-report
#1
Yang-Qing Xu, Xiao-Hong Yang, Xin-Lin Chen, Xiu-Qiin Ji, Sheng Zhao
Cloacal exstrophy variants are comprised of a wide range of characteristics, of which there are four primary features, including omphalocele, bladder exstrophy, an imperforate anus and spina bifida. The existing literature regarding the differential diagnosis from alternative urinary diseases prenatally are limited. If the bladder is present, defects in the ventral wall may not be visualized with prenatal ultrasound in certain conditions, including oligohydramnios, and differential diagnosis from urorectal septum malformation sequence is a challenge...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28795898/from-feeling-broken-to-looking-beyond-broken-palestinian-mothers-experiences-of-having-a-child-with-spina-bifida
#2
Maha Sudki Hmeidan Nahal, Helena Wigert, Asma Imam, Åsa B Axelsson
Spina bifida (SB) is the second most common birth defect worldwide. Mothers of children with SB face extraordinary challenges due to the complicated conditions and disability of their children. Little is known about the impact of these challenges on the mothers' well-being, particularly in Middle Eastern culture, where chronic illness and disability are perceived as a stigma, and care of disabled children has traditionally been the responsibility of the mother. The aim of this study was to illuminate mothers' lived experience of having a child with SB in Palestine...
May 2017: Journal of Family Nursing
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/28771836/editorial-comment-to-lessons-learned-from-the-management-of-adults-who-have-undergone-augmentation-for-spina-bifida-and-bladder-exstrophy-incidence-and-management-of-the-non-lethal-complications-of-bladder-augmentation
#4
Kazuyoshi Johnin
No abstract text is available yet for this article.
August 3, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28771821/lessons-learned-from-the-management-of-adults-who-have-undergone-augmentation-for-spina-bifida-and-bladder-exstrophy-incidence-and-management-of-the-non-lethal-complications-of-bladder-augmentation
#5
REVIEW
Douglas A Husmann
The present review provides clinical insights and makes recommendations regarding patient management garnered by the long-term follow up of patients undergoing enteric bladder augmentation for the management of congenital anomalies. A prospectively maintained database on 385 patients that have experienced an enteric bladder augmentation, using either the ileum or colon, was reviewed. Evaluations included methods used to prevent bladder calculi formation and recurrence, the incidence and etiology of renal calculi development, the incidence and treatment of vitamin B12 deficiency, and the complications and need for surgical revisions for continent catheterizable stomas...
August 3, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28765025/congenital-malformations-of-the-central-nervous-system-in-rural-western-honduras-a-6-year-report-on-trends
#6
Dagoberto Estevez-Ordonez, Michael C Dewan, Michael J Feldman, Eleazar E Montalvan-Sanchez, Daniela M Montalvan-Sanchez, Aida A Rodriguez-Murillo, Samuel A Urrutia-Argueta, Charlotte B Cherry, Douglas R Morgan, Roberto Alvarez-Rodriguez, Christopher M Bonfield
BACKGROUND: Central nervous system (CNS) malformations including neural tube defects (NTDs) are the second most common type of birth defects world-wide, and are major causes of childhood disability and mortality. We report the first analysis of prevalence in Western Honduras of CNS malformations including NTDs over six consecutive years. METHODS: Data from all patients with congenital CNS malformations and total live births between 2010 and 2015 were obtained through institution and regional registries from all three public referral hospitals in Western Honduras, representing 67 municipalities...
July 29, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28763666/are-concentrations-of-alkaline-earth-elements-in-maternal-hair-associated-with-risk-of-neural-tube-defects
#7
Zhenjiang Li, Bin Wang, Wenhua Huo, Yingying Liu, Yibing Zhu, Jing Xie, Zhiwen Li, Aiguo Ren
The relationship between maternal intake of alkaline earth elements (AEEs) during the period of neural tube closure and the risk of neural tube defects (NTDs) is still unclear. We propose that AEE deficiency during the early period of pregnancy is associated with an elevated risk of NTDs in the offspring. In this study, we recruited 191 women with NTD-affected pregnancies (cases) and 261 women who delivered healthy infants (controls). The concentrations of four AEEs (Ca, Mg, Sr, Ba) in maternal hair sections that grew during early pregnancy were analyzed...
July 28, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28762673/interaction-between-maternal-and-paternal-shmt1-c1420t-predisposes-to-neural-tube-defects-in-the-fetus-evidence-from-case-control-and-family-based-triad-approaches
#8
Prasoona K Rebekah, Sunitha Tella, Srinadh Buragadda, Muni Kumari Tiruvatturu, Jyothy Akka
BACKGROUND: Neural tube defects (NTDs) are caused by the failure of neural tube formation which occurs during early embryonic development. NTDs are the most severe and leading cause of fetal mortality. Serine hydroxymethyl transferase (SHMT1) provides one-carbon units necessary for embryogenesis and defects in one-carbon production result in specific pathological conditions during pregnancy. The present study is aimed to evaluate the association of SHMT1 C1420T with NTD risk in the fetus using fetal, maternal and paternal groups by applying both case-control and family-based triad approaches...
July 17, 2017: Birth defects research
https://www.readbyqxmd.com/read/28760316/developing-a-transition-care-coordination-program-for-youth-with-spina-bifida
#9
Amanda Seeley, Linda Lindeke
INTRODUCTION: This quality improvement pilot study focused on developing and facilitating readiness for transition in youth with spina bifida. The results contribute to a broader institution-wide initiative at a subspecialty pediatric organization. METHODS: The clinical roles of six nurse care coordinators were restructured to add responsibility for transition care coordination. Together, parents, youth, and nurse transition care coordinators created and implemented individualized family-centered care plans focused on improving self-management and readiness for transition to adulthood...
July 28, 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/28739558/design-of-mobile-health-tools-to-promote-goal-achievement-in-self-management-tasks
#10
Brad Edward Dicianno, Geoffrey Henderson, Bambang Parmanto
BACKGROUND: Goal-setting within rehabilitation is a common practice ultimately geared toward helping patients make functional progress. OBJECTIVE: The purposes of this study were to (1) qualitatively analyze data from a wellness program for patients with spina bifida (SB) and spinal cord injury (SCI) in order to generate software requirements for a goal-setting module to support their complex goal-setting routines, (2) design a prototype of a goal-setting module within an existing mobile health (mHealth) system, and (3) identify what educational content might be necessary to integrate into the system...
July 24, 2017: JMIR MHealth and UHealth
https://www.readbyqxmd.com/read/28734746/spina-bifida-management
#11
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/28723301/maternal-occupation-and-the-risk-of-neural-tube-defects-in-offspring
#12
Jihye Kim, Peter H Langlois, Laura E Mitchell, A J Agopian
We evaluated the association between maternal occupation and the risk of neural tube defects (NTDs) in offspring. Data for 491 nonsyndromic cases were obtained from the Texas Birth Defects Registry for deliveries between 1999 and 2009. We randomly selected 2,291 controls among all live births in Texas during this time. Maternal occupations were classified using automated software and manual assignment. Multivariable logistic regression analyses were used to examine the relationship between maternal occupation and risk for any NTD, adjusting for maternal race/ethnicity, any diabetes, and maternal body mass index...
July 19, 2017: Archives of Environmental & Occupational Health
https://www.readbyqxmd.com/read/28721594/exome-analysis-in-an-estonian-multiplex-family-with-neural-tube-defects-a-case-report
#13
Liina Pappa, Mart Kals, Paula Ann Kivistik, Andres Metspalu, Ann Paal, Tiit Nikopensius
INTRODUCTION: Neural tube defects (NTDs) are a group of common and severe congenital birth defects that occur during early embryonic development due to incomplete closure of the neural tube. The genetic architecture of human NTDs, including spina bifida and hydrocephalus, is highly heterogeneous, with multiple genes/loci and both gene-gene and gene-environment interactions involved. Hence, the variation in outcomes also most likely relates to a combination of the severity of different variants in multiple genes and genetic modifiers affecting the biochemical traits...
July 18, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28719048/developmental-mechanisms-of-intervertebral-disc-and-vertebral-column-formation
#14
REVIEW
Lisa Y Lawson, Brian D Harfe
The vertebral column consists of repeating units of ossified vertebrae that are adjoined by fibrocartilagenous intervertebral discs. These structures form from the embryonic notochord and somitic mesoderm. In humans, congenital malformations of the vertebral column include scoliosis, kyphosis, spina bifida, and Klippel Feil syndrome. In adulthood, a common malady affecting the vertebral column includes disc degeneration and associated back pain. Indeed, recent reports estimate that low back pain is the number one cause of disability worldwide...
July 18, 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/28716320/evaluation-and-lifetime-management-of-the-urinary-tract-in-patients-with-myelomeningocele
#15
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
#16
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/28712018/laparoscopic-implantation-of-electrodes-for-bilateral-neuromodulation-of-the-pudendal-nerves-and-s3-nerve-roots-for-treating-pelvic-pain-and-voiding-dysfunction
#17
Adrienne L K Li, Renato Marques, Acary Oliveira, Laise Veloso, Manoel J B C Girão, Nucelio Lemos
INTRODUCTION AND HYPOTHESIS: The objective of this video is to describe the technique for laparoscopic implantation of electrodes for bilateral neuromodulation of S3 and pudendal nerves. We report a successful case of a 48-year-old woman with spina bifida occulta referred with a 14-year history of intense acyclic pelvic pain, urinary hesitancy, and intermittent flow refractory to various conservative measures. METHODS: The procedure began with the removal of two previously placed InterStims...
July 15, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/28712006/an-inframe-trinucleotide-deletion-in-mtrr-exon-1-is-associated-with-the-risk-of-spina-bifida
#18
Jun Zhang, Xiao-Lu Dai, Gui-Cen Liu, Juan Wang, Xue-Yi Ren, Mu-Hua Jin, Nan-Nan Mi, Shu-Qin Wang
Maternal genetic variants of enzymes in folate-homocysteine metabolic network are significantly correlative with the risk of spina bifida. To survey the genetic causality, the genotypes of three women having spina bifida fetuses from two unrelated Chinese families were screened in candidate alleles. Polymerase chain reaction, capillary electrophoresis and Sanger sequencing were employed to recognize the allelic variation. A trinucleotide deletion (c.4_6delAGG) was identified in the first exon of MTRR. All the three women showed the novel clinical variation including one heterozygous and two homozygous...
July 15, 2017: Neuromolecular Medicine
https://www.readbyqxmd.com/read/28695418/csf-based-analysis-for-identification-of-potential-serum-biomarkers-of-neural-tube-defects
#19
Xinyu Yan, Lixin Mai, Changchun Lin, Wenji He, Gengsheng Yin, Jiakang Yu, Lian Huang, Sanqiang Pan
The protein composition of cerebrospinal fluid (CSF) in neural tube defects (NTDs) remains unknown. We investigated the protein composition of CSF from 9 infants with NTDs using isobaric tags for relative and absolute quantitation (iTRAQ). We identified 568 proteins in the CSF of infants with spina bifida, which is the most common type of NTD. Among these, 18 proteins were associated with neural tube closure in the CSF during human embryonic neurulation and 5 were involved in NTDs. Based on these results, an animal model was further utilized to investigate early serum biomarkers for NTDs...
August 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28695338/management-of-concomitant-scoliosis-and-tethered-cord-syndrome-in-non-spina-bifida-pediatric-population
#20
REVIEW
Kaan Yaltırık, Najib E El Tecle, Matthew J Pierson, Aki Puryear, Basar Atalay, Samer K Elbabaa
BACKGROUND: The management of concomitant scoliosis and tethered cord syndrome in the non-spina bifida pediatric population is challenging. In the present study, we evaluate the efficacy of different treatment modalities and propose a treatment plan for the management of affected patients. METHODS: A systematic literature review was conducted by querying the MEDLINE, PubMed, Cochrane, EMBASE, Scopus, and Web of Science databases for papers published between January 1996 and June 2016 and reporting on concomitant scoliosis and tethered cord...
July 10, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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