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Spina bifida

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https://www.readbyqxmd.com/read/28440354/normal-intracranial-bs-bsob-ratio-values-in-the-first-trimester-of-single-gestations-with-live-fetuses-in-a-korean-population
#1
Sung Hee Yang, Hyun Sook An, Jin Soo Lee, Changsoo Kim
AIM: The purpose of this study was to determine the normal length of the brainstem (BS) in Korean fetuses and to evaluatethe usefulness of the routine measurement of BS size in the first trimester of pregnancy for the early detection of spina bifida. MATERIAL AND METHODS: A total of 2,621 normal singleton pregnant Korean women at 10+6 to 13+6 weeks of gestation were selected for this retrospective cross-sectional study. Ultrasonography was used to measure the length of the longest vertical depth diameter of the BS and brainstem-occipital bone (BSOB) in order to obtain the BS to BSOB ratio...
April 22, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28435579/peripheral-gangrene-complicating-systemic-lupus-erythematosus-in-a-patient-with-spina-bifida-a-case-report
#2
S Vijay, V K Imthiaz, S Hitesh
An adolescent girl, a known case of spina bifida with systemic lupus, presented with bluish discolouration of three toes of the right foot. She had thrombosis of bilateral popliteal arteries. She underwent percutaneous transluminal angioplasty (PTA) of both legs and Chopart amputation of the right foot. Systemic lupus erythematosus (SLE) occurring in a patient with spina bifida has not been previously reported. Weakness, sensory loss, lack of normal ambulation, endarteritis, antiphospholipid antibody syndrome are common contributory factors for peripheral gangrene in patients with spina bifida with systemic lupus erythematosus...
March 2017: Malaysian Orthopaedic Journal
https://www.readbyqxmd.com/read/28411498/a-pilot-study-on-the-association-between-rare-earth-elements-in-maternal-hair-and-the-risk-of-neural-tube-defects-in-north-china
#3
Wenhua Huo, Yibing Zhu, Zhenjiang Li, Yiming Pang, Bin Wang, Zhiwen Li
Rare earth elements (REEs) have many applications in industry, agriculture, and medicine, resulting in occupational and environmental exposure and concerns regarding REE-associated health effects. However, few epidemiological studies have examined the adverse effects of REEs on pregnancy outcomes. Therefore, this study examined the relationship between the REE concentrations in maternal hair growing during early pregnancy and the risk of neural tube defects (NTDs) in offspring. We included 191 women with NTD-affected pregnancies (cases) and 261 women delivering healthy infants (controls)...
April 12, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28411382/interaction-between-maternal-and-paternal-shmt1-c1420t-predisposes-to-neural-tube-defects-in-the-fetus-evidence-from-case-control-and-family-based-triad-approaches
#4
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...
April 14, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28403928/-prenatal-diagnosis-of-neural-tube-defects-correlation-between-prenatal-and-postnatal-data
#5
L Matuszewski, E Perdriolle-Galet, I Clerc-Urmès, P Bach-Segura, O Klein, J P Masutti, O Morel
OBJECTIVES: Neural tube defects (NTD) are congenital anomalies that can cause significant neurological long-term disabilities. Theses malformations are accessible to prenatal diagnosis and quite recently, to in utero repair for some myelomeningoceles. The aim of this study was to analyse the correlation between prenatal and postnatal examinations. MATERIALS AND METHODS: A descriptive retrospective monocentric study has been conducted between January 2004 and December 2014 in a tertiary care maternity...
March 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28398703/air-pollution-neighborhood-acculturation-factors-and-neural-tube-defects-among-hispanic-women-in-california
#6
Amy M Padula, Wei Yang, Suzan L Carmichael, Frederick Lurmann, John Balmes, S Katharine Hammond, Gary M Shaw
BACKGROUND: Neural tube defects (NTDs) are one of the most common types of birth defects. Environmental pollutants and acculturation have been associated with NTDs independently. The potential effect modification of acculturation in the relationship between ambient air pollution and risks of NTDs is not well understood. METHODS: We investigated whether associations between traffic-related air pollutant exposure in early gestation and NTDs, and more specifically spina bifida, were modified by individual and neighborhood acculturation factors among 139 cases and 466 controls born in the San Joaquin Valley of California, 1997 to 2006...
April 3, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398666/association-between-a-maternal-history-of-miscarriages-and-birth-defects
#7
Hebe Campaña, Monica Rittler, Juan A Gili, Fernando A Poletta, Mariela S Pawluk, Lucas G Gimenez, Viviana R Cosentino, Eduardo E Castilla, Jorge S López Camelo
BACKGROUND: Some studies, mainly in the older literature, observed a significant association between miscarriages and birth defects (BDs) occurring in the same sibship. However, few studies examined the BD/miscarriage relationship in depth. In addition nothing has been added to the underlying mechanisms possibly linking both events. The purpose of this work was to identify specific BDs associated with maternal miscarriages. In particular, it examined whether the risk depended on the number of losses, and to suggest the existence of specific factors for each BD/miscarriage association observed...
March 1, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28378426/a-prospective-study-on-fetal-posterior-cranial-fossa-assessment-for-early-detection-of-open-spina-bifida-at-11-13-weeks
#8
Semir Kose, Sabahattin Altunyurt, Pembe Keskinoglu
To test three measurements; brain stem (BS), intracranial translucency (IT) and brain stem to occipital bone distance (BSOB), as well as one landmark; cisterna magna (CM) visibility, for early diagnosis of open spina bifida (OSB) in a low risk population. A prospective observational study was undertaken in a university hospital. A sample of 1479 women consented to participate between 20 September 2013 and 30 June 2015. Measurements were performed from the mid-sagittal view, as is routinely used for nuchal thickness assessment...
April 5, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28375917/urogenital-symptoms-in-neurologic-patients
#9
Jalesh N Panicker
PURPOSE OF REVIEW: Lower urinary tract and sexual dysfunction are commonly reported sequelae of neurologic disease and have a significant impact on quality of life. This article presents an up-to-date summary of the clinical presentation, investigations, and treatment options for urogenital dysfunction in patients with neurologic disease. RECENT FINDINGS: The pattern of lower urinary tract dysfunction is influenced by the site of the neurologic lesion. The risk for developing upper urinary tract damage is considerably less in patients with slowly progressive nontraumatic neurologic disorders, as compared to those with spinal cord injury or spina bifida...
April 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28369434/social-skills-in-youth-with-spina-bifida-a-longitudinal-multimethod-investigation-comparing-biopsychosocial-predictors
#10
Christina E Holbein, James L Peugh, Grayson N Holmbeck
To examine the relative contributions of neuropsychological (attention and executive function), family (cohesion and conflict), and health (body mass index, lesion level, gross motor function) domains on social skills over time in youth with spina bifida (SB). In all, 140 youth with SB (T1 mean age = 11.43 years) and their families participated in the study at baseline with an additional visit 2 years later. Study variables were assessed with multiple methods (questionnaire, medical chart review, observation, neuropsychological tests) and reporters (parents, teachers)...
March 24, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/28366704/sexual-function-and-quality-of-life-in-young-men-with-spina-bifida-could-it-be-neglected-aspects-in-clinical-practice
#11
Eun Kyoung Choi, Yoonhye Ji, Sang Won Han
OBJECTIVE: The purpose of this study was to evaluate the sexual function of young men with spina bifida and the impact of the disorder on the quality of life (QOL). MATERIALS AND METHODS: To assess sexual function and QOL by using self-administered questionnaires (International Index of Erectile Function [IIEF] and 36-Item Short Form Health Survey [SF-36]) for young men with spina bifida. We collected data from 47 young men with spina bifida between June 2013 and October 2013 at the spina bifida clinic of Severance Children's Hospital, Seoul, South Korea RESULTS: Of the 47 men, 13 (27...
March 30, 2017: Urology
https://www.readbyqxmd.com/read/28362184/surveillance-survey-of-family-history-in-children-with-neural-tube-defects
#12
Esther B Dupépé, Daxa M Patel, Brandon G Rocque, Betsy Hopson, Anastasia A Arynchyna, E Ralee' Bishop, Jeffrey P Blount
OBJECTIVE Although there are known risk factors for the development of neural tube defects (NTDs), little is known regarding the role of family history. The authors' goal in this study is to describe the family history in their population of patients with NTDs. METHODS Surveys were completed for 254 patients who were accompanied by their biological mother during their annual visit to the multidisciplinary Spina Bifida Clinic at Children's of Alabama. An NTD has been diagnosed in all patients who are seen in this clinic (myelomeningocele, lipomeningocele, split cord malformation, and congenital dermal sinus tract)...
March 31, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28358903/clusters-of-amniotic-fluid-cells-and-their-associated-early-neuroepithelial-markers-in-experimental-myelomeningocele-correlation-with-astrogliosis
#13
Jolanta Zieba, Amanda Miller, Oleg Gordiienko, George M Smith, Barbara Krynska
Myelomeningocele (MMC) is the most common and severe disabling type of spina bifida resulting in the exposure of vulnerable spinal cord to the hostile intrauterine environment. In this study, we sought to examine the cellular content of fetal amniotic fluid (AF) in MMC and explore a correlation between these cells and pathological development of MMC. MMC was induced in fetal rats by exposing pregnant mothers to all-trans retinoic acid and AF samples were collected before term. Cells were isolated from AF samples and morphologically and phenotypically characterized in short-term cultures...
2017: PloS One
https://www.readbyqxmd.com/read/28351437/-a-neonate-with-a-mass-on-the-upper-back
#14
J C Naafs, K Sax, M E van der Putten
Immediately after birth, a skin-covered mass with weak consistency was noted on the back of a full-term newborn boy. Ultrasound and MRI (performed to exclude spina bifida occulta) showed a multicystic venolymphatic malformation. Sclerotherapy or surgical excision are possible treatments. In asymptomatic patients, however, a watchful waiting approach is used.
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28325669/a-pediatric-urology-wish-list-for-spina-bifida-research
#15
EDITORIAL
Jonathan C Routh
No abstract text is available yet for this article.
March 18, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28322650/parental-feeding-behaviors-and-weight-related-concerns-in-children-with-special-needs
#16
Michele Polfuss, Pippa Simpson, Rachel Neff Greenley, Liyun Zhang, Kathleen J Sawin
Parental feeding behaviors and concern about child weight are associated with obesity among youth who are typically developing. Little is known about this relationship among parents of youth with special needs, despite these children having higher obesity risk. This study used an online survey to explore associations among parental feeding behaviors, parent weight concerns, demographics, and child weight status in a sample of 356 parents of children diagnosed with autism spectrum disorder, spina bifida, and Down syndrome...
January 1, 2017: Western Journal of Nursing Research
https://www.readbyqxmd.com/read/28295633/neural-tube-closure-and-embryonic-metabolism
#17
REVIEW
Yoshifumi Yamaguchi, Hidenobu Miyazawa, Masayuki Miura
Neural tube closure (NTC) is an embryonic process during formation of the mammalian central nervous system. Disruption of the dynamic, sequential events of NTC can cause neural tube defects (NTD) leading to spina bifida and anencephaly in the newborn. NTC is affected by inherent factors such as genetic mutation or if the mother is exposed to certain environmental factors such as intake of harmful chemicals, maternal infection, irradiation, malnutrition, and inadequate or excessive intake of specific nutrients...
March 13, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28295455/cryopreserved-human-umbilical-cord-versus-biocellulose-film-for-prenatal-spina-bifida-repair-in-a-physiologic-rat-model
#18
Saul Snowise, Lovepreet Mann, Yisel Morales, Kenneth J Moise, Anthony Johnson, Stephen Fletcher, Raymond J Grill, Scheffer C G Tseng, Ramesha Papanna
BACKGROUND: Prenatal spina bifida (SB) repair with a regenerative patch may improve neurological outcomes by decreasing inflammatory scarring. OBJECTIVE: This study aims to compare cryopreserved human umbilical cord (HUC) and biocellulose film (BCF) patches sutured over SB lesions for regeneration of native cells and inflammatory response. STUDY DESIGN: Sprague-Dawley rats were gavaged with retinoic acid (RA) on embryonic day 10 to induce SB...
March 13, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28287588/medical-grade-sterilizable-target-for-fluid-immersed-fetoscope-optical-distortion-calibration
#19
Daniil I Nikitichev, Dzhoshkun I Shakir, François Chadebecq, Marcel Tella, Jan Deprest, Danail Stoyanov, Sébastien Ourselin, Tom Vercauteren
We have developed a calibration target for use with fluid-immersed endoscopes within the context of the GIFT-Surg (Guided Instrumentation for Fetal Therapy and Surgery) project. One of the aims of this project is to engineer novel, real-time image processing methods for intra-operative use in the treatment of congenital birth defects, such as spina bifida and the twin-to-twin transfusion syndrome. The developed target allows for the sterility-preserving optical distortion calibration of endoscopes within a few minutes...
February 23, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28286691/spina-bifida-pathogenesis-mechanisms-and-genes-in-mice-and-humans
#20
REVIEW
Siti W Mohd-Zin, Ahmed I Marwan, Mohamad K Abou Chaar, Azlina Ahmad-Annuar, Noraishah M Abdul-Aziz
Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition...
2017: Scientifica
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