Read by QxMD icon Read

Spina bifida

Fernando A Poletta, Monica Rittler, Cesar Saleme, Hebe Campaña, Juan A Gili, Mariela S Pawluk, Lucas G Gimenez, Viviana R Cosentino, Eduardo E Castilla, Jorge S López-Camelo
BACKGROUND: Historically, neural tube defects (NTDs) have predominated in female infants but the reasons remain unclear. In South America, the pre- folic acid fortification (FAF) rates of NTDs were around 18/10,000 births for females and 12/10,000 births for males, with an estimated sex ratio (male/female) of 0.67. During the post- FAF period, unpublished routine reports have indicated changes in the sex ratio for these defects while some descriptive reports are controversial. To date and to our knowledge, however, no studies specifically focusing on these changes to test this hypothesis directly have been undertaken...
2018: PloS One
Vijaya Kancherla, Sarah Zimmerman
OBJECTIVES: Mandatory fortification of flour with folic acid has been proven to be a highly effective way to prevent spina bifida and anencephaly. Yet, over 100 countries worldwide do not implement this intervention. Our objectives were to identify countries with an immediate potential for mandatory fortification of wheat flour with folic acid and to estimate the number of preventable cases of spina bifida and anencephaly that would be averted each year through the intervention. METHODS: We examined folic acid fortification characteristics in countries as of September 2017...
March 13, 2018: Birth Defects Research
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
Eun Kyoung Choi, Sang Woon Kim, Yoonhye Ji, Seoung-Wha Lim, Sang Won Han
AIMS: As the life expectancy of persons with spina bifida increases, sexual life in adulthood presents a considerable challenge for this population. The purpose of this study was to evaluate the sexual function of young women with spina bifida and its impact on their quality of life (QOL). METHODS: To assess sexual function and QOL by using self-administered questionnaires (Female Sexual Function Index [FSFI] and 36-Item Short Form Health Survey) in young women with spina bifida, we collected data from 44 young women with spina bifida between June 2013 and October 2013 at the spina bifida clinic of our hospital...
March 9, 2018: Neurourology and Urodynamics
Alexander J Skokan, Robert Caleb Kovell
PURPOSE OF REVIEW: As long-term survival with complex congenital and pediatric diseases has improved, more patients with congenital genitourinary conditions are living into adulthood. These patients can continue to face lifelong issues related to their conditions, including urinary incontinence, recurrent urinary tract infections, chronic kidney disease, and difficulties with sexual health and function. RECENT FINDINGS: The practice of transitional urology continues to grow nationwide and abroad, and it will be important to develop evidence-based practices for coordinated transition of these patients into the adult health care setting...
March 7, 2018: Current Urology Reports
Sinan Khadhouri, Dupinderjit Singh Rye, Manish Powari, Ian R Daniels, John S McGrath
Squamous cell carcinoma (SCC) arising from a suprapubic cystostomy tract is a rare complication of long-term suprapubic catheterization (SPC). A 53-year-old man with paraplegia secondary to spina bifida presented with a painful granulomatous lesion around his SPC site that was being treated with silver nitrate cauterization in the community. Consequently, he developed a sacral pressure sore due to reduced mobility from the pain. He also had increasing difficulties with defaecation secondary to his spina bifida...
February 2018: Journal of Surgical Case Reports
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
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
Lian Duan, Qian Li, An-Li Tong, Jiang-Feng Mao, Miao Yu, Tao Yuan, Xiao-Feng Chai, Feng Gu
Objective: Wolfram syndrome (WS) is a rare, degenerative, and hereditary disorder characterized by ear diabetes mellitus (DM) and optic atrophy (OA). We aim to characterize clinical features in Chinese patients who had been poorly studied until now. Methods: We performed a retrospective review of patients with WS seen in the Peking Union Medical College Hospital from 2002 to 2017. Data including demographic data, clinical presentations, examination results, family history, and genetic analysis were described...
2018: Frontiers in Endocrinology
Marc Vetter, Rod J Oskouian, R Shane Tubbs
No abstract text is available yet for this article.
February 24, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Isabel R Orriss, Stuart Lanham, Dawn Savery, Nicholas D E Greene, Philip Stanier, Richard Oreffo, Andrew J Copp, Gabriel L Galea
Fractures are a common comorbidity in children with the neural tube defect (NTD) spina bifida. Mutations in the Wnt/planar cell polarity (PCP) pathway contribute to NTDs in humans and mice, but whether this pathway independently determines bone mass is poorly understood. Here, we first confirmed that core Wnt/PCP components are expressed in osteoblasts and osteoclasts in vitro. In vivo, we performed detailed µCT comparisons of bone structure in tibiae from young male mice heterozygous for NTD-associated mutations versus WT littermates...
February 20, 2018: Scientific Reports
N Kotova, V Maichuk, O Fedorenko
Neural tube defects occupy second place in frequency after the defects of the cardiovascular system. The folate metabolism violation and hyperhomocysteinemia in women are proved to be the leading risk factors for the NTD of the fetus. Polymorphism of the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) is a genetic determinant of folate metabolism violation. Admission of folic acid in a standard dose of 0.4 mg and / or the use of fortified foods does not allow reaching the protective level of folic acid if there is a mutation of the MTHFR gene or when several risk factors combine, which requires a higher dose of folic acid...
January 2018: Georgian Medical News
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
Michael Garcia, Christopher Daugherty, Bertha Ben Khallouq, Todd Maugans
OBJECTIVE The Internet is used frequently by patients and family members to acquire information about pediatric neurosurgical conditions. The sources, nature, accuracy, and usefulness of this information have not been examined recently. The authors analyzed the results from searches of 10 common pediatric neurosurgical terms using a novel scoring test to assess the value of the educational information obtained. METHODS Google and Bing searches were performed for 10 common pediatric neurosurgical topics (concussion, craniosynostosis, hydrocephalus, pediatric brain tumor, pediatric Chiari malformation, pediatric epilepsy surgery, pediatric neurosurgery, plagiocephaly, spina bifida, and tethered spinal cord)...
February 16, 2018: Journal of Neurosurgery. Pediatrics
Nicholas J Wald, Joan K Morris, Colin Blakemore
The neural tube defects anencephaly and spina bifida are two of the most common serious congenital malformations. Most cases can be prevented by consuming sufficient folic acid immediately before pregnancy and in early pregnancy. Fortification of flour with folic acid to prevent these defects has been implemented in 81 countries without public objection or indication of harm. An obstacle to the wider adoption of fortification arises from the creation of a "tolerable upper intake level" for folate (which includes natural food folate as well as synthetic folic acid), and which has been set at 1 mg/day, thereby proscribing higher folate intakes...
2018: Public Health Reviews
Alexa Stern, Colleen F Bechtel Driscoll, Diana Ohanian, Grayson N Holmbeck
Objective: Given the increased risk for cognitive deficits and development of depressive symptoms in youth with spina bifida (SB), this study aimed to examine two pathways through which depressive symptoms and neuropsychological dysfunction may be associated with medical autonomy in this population: (1) depressive symptoms as predictors of medical autonomy as mediated by attention/executive functioning (the cognitive scarring model), and (2) attention/executive functioning as predictors of medical autonomy as mediated by depressive symptoms (the cognitive vulnerability model)...
February 10, 2018: Journal of Pediatric Psychology
Caitlin T Coco, Bhalaajee Meenakshi-Sundaram, Ahmed Eldefrawy, Millard L Henry, Tanya Watts, Christopher E Aston, Jennifer Lewis, Dominic C Frimberger, Gennady Slobodov
OBJECTIVE: To describe and compare differences in perception of independence, urinary continence, and quality of life in an adult spina bifida (SB) population. METHODS: We collected data on adult neurogenic bladder patients which included demographics, relevant procedures, and quality of life (QoL) questionnaires. QoL and functional outcomes were assessed using spinal cord independence measure (SCIM) and SF-8 health questionnaire. International consultation of incontinence questionnaire (ICIQ) was used to assess incontinence...
February 14, 2018: Neurourology and Urodynamics
Vardine Sahakyan, Robin Duelen, Wai Long Tam, Scott J Roberts, Hanne Grosemans, Pieter Berckmans, Gabriele Ceccarelli, Gloria Pelizzo, Vania Broccoli, Jan Deprest, Frank P Luyten, Catherine M Verfaillie, Maurilio Sampaolesi
Neural tube defects (NTDs) are severe congenital abnormalities, caused by failed closure of neural tube during early embryonic development. Periconceptional folic acid (FA) supplementation greatly reduces the risk of NTDs. However, the molecular mechanisms behind NTDs and the preventive role of FA remain unclear. Here, we use human induced pluripotent stem cells (iPSCs) derived from fetuses with spina bifida aperta (SBA) to study the pathophysiology of NTDs and explore the effects of FA exposure. We report that FA exposure in SBA model is necessary for the proper formation and maturation of neural tube structures and robust differentiation of mesodermal derivatives...
February 13, 2018: Scientific Reports
Peter Wang
No abstract text is available yet for this article.
February 14, 2018: Journal of Endourology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"