Spina bifida cystica and severe congenital bilateral talipes equinovarus in one twin of a monoamniotic pair: a case report [PDF]
BMC Research Notes, 2017 Background Spina bifida and congenital talipes equinovarus (CTEV) are common congenital malformations which may occur together and increase morbidity.
Benjamin Momo Kadia +4 more
doaj +3 more sources
Repair of spina bifida cystica: an institutional experience
Egyptian Journal of Neurosurgery, 2023 Objective Although most cases with spina bifida cystica could be closed by primary skin closure with or without undermining its edges, about 25% of patients have large defects not amenable for closure by these simple methods.
Mohamed Badran +2 more
exaly +2 more sources
Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects. [PDF]
Mol Genet Genomic Med, 2023 High‐throughput sequencing study of high‐prevalence neural tube defects (NTDs). Missense mutation in ribosomal biogenesis gene TCOF1 promotes TP53 stabilization. TCOF1 mutation participates in the pathopoiesis of NTDs with craniofacial abnormality. Abstract Background Rare mutations in multiple genes have been associated with human neural tube defects (
Wang F, Cheng H, Zhang Q, Guo J.
europepmc +2 more sources
Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinnings. [PDF]
Pediatr DiscovAbstract Spina bifida is a birth defect resulting from abnormal embryonic development of the neural tube. Though spina bifida is divided into several subtypes, myelomeningocele—the most severe form of spina bifida often associated with a markedly diminished quality of life—accounts for a significant portion of cases.
Wong ES +13 more
europepmc +2 more sources
Treatment outcomes of multidisciplinary management of recurrent urinary tract infections: A 2-year experience in a dedicated complex-UTI clinic. [PDF]
BJUI CompassAbstract Objectives This work aimed to assess treatment outcomes in patients with recurrent urinary tract infections (rUTIs) managed in a dedicated multidisciplinary complex‐UTI clinic. In addition, this work aimed to evaluate the impact of tailored interventions on patient‐reported outcomes, including quality of life (QoL) and symptomatic improvement.
Chitteti P +7 more
europepmc +2 more sources
Spinal Dysraphism-Histopathological Study of 45 Cases [PDF]
Journal of Clinical and Diagnostic Research, 2021 Introduction: Dysraphic conditions of spine resulting from nonclosure of the neural groove, consists of different types of malformations and they are called spina bifida, which have been classified into several types.
Bangaru Sandhya +2 more
doaj +1 more source
PROGRESS IN APPLICATION OF PRENATAL ULTRASONOGRAPHY IN THE DIAGNOSIS OF SPINA BIFIDA [PDF]
精准医学杂志, 2023 Prenatal ultrasound screening plays an important role in eugenics, and the related techniques are developing rapidly. Fetal spina bifida screening is a required item for prenatal care in pregnant women. However, there is still room for improvement in its
LAI Huangyi, SUN Youxiang, JIANG Wei
doaj +1 more source
Technique with double muscle and fasciocutaneous flap in the correction of sciatic pressure ulcers [PDF]
Revista Brasileira de Cirurgia Plástica, 2022 Pressure ulcers are lesions caused on the skin and underlying tissues due to local pressure force, usually at points of bony prominences. Here, we mention the case of a bedridden patient due to a spinal cord injury caused by myelomeningocele who ...
Flávia Mesquita Soares +1 more
doaj +1 more source
Biocellulose patch technique for fetoscopic repair of open spina bifida in twin pregnancy
Ultrasound in Obstetrics &Gynecology, Volume 62, Issue 4, Page 558-564, October 2023., 2023 ABSTRACT Objectives Twin pregnancy is currently an exclusion criterion for prenatal repair of open spina bifida (OSB). The main objective of this study was to report on our experience of treating twin pregnancies with OSB using the skin‐over‐biocellulose for antenatal fetoscopic repair (SAFER) technique.
D. A. Lapa +6 more
wiley +1 more source
History and highlights of the teratological collection in the Narrenturm, Vienna (Austria)
American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1301-1324, May 2023., 2023 Abstract The collection of the Narrenturm in Vienna houses and maintains more than 50,000 objects including approximately 1200 teratological specimens; making it one of the biggest collections of specimens from human origin in Europe. The existence of this magnificent collection―representing an important resource for dysmorphology research, mostly ...
Lucas L. Boer +8 more
wiley +1 more source