Genetische Ursachen von Neuralrohrdefekten beim Menschen - Assoziationsstudien und Kandidatengenanalysen [PDF]
, 2003 Neuralrohrdefekte (NRD) sind häufig auftretende angeborene Fehlbildungen des Zentralen Nervensystems, über deren Ursachen bis heute nur wenig bekannt ist.
Felder, Bärbel, Felder, Bärbel
core +1 more source
Spina Bifida Occulta and Epidural Anaesthesia [PDF]
Obstetric Anesthesia Digest, 1988 Summary Spina bifida occulta occurs in 5–10% of the population, not all of whom display superficial signs. Attempted epidural puncture at the level of the lesion will almost certainly result in a dural tap. We report a patient who developed a postural headache after Caesarean section under epidural anaesthesia, in whom radiography of ...
E M, McGrady, A G, Davis
openaire +2 more sources
Polimorfismo de deleção de 19 pares de bases do gene dihidrofolato redutase (DHFR): risco materno para síndrome de Down e metabolismo do folato [PDF]
, 2010 CONTEXT AND OBJECTIVE: Polymorphisms in genes involved in folate metabolism may modulate the maternal risk of Down syndrome (DS). This study evaluated the influence of a 19-base pair (bp) deletion polymorphism in intron-1 of the dihydrofolate reductase ...
BISELLI, Joice Matos +9 more
core +1 more source
Bulletins et Mémoires de la Société d’Anthropologie de Paris, 2022 Spondylolysis is a bony defect of the pars interarticularis mainly arising from repeated traumas. Other factors such as spina bifida occulta (SBO) are mentioned in clinical and palaeopathology but have been little studied.
Marie Devos +7 more
doaj +1 more source
The effect of a spina bifida-defect at the lumbosacral junction on spinopelvic alignments [PDF]
, 2020 Background: Spina bifida defects, which are mild neurotube defects are commonly found at the lumbosacral junction. The defect which is associated with micronutrient deficiency (folate) is highly prevalent in impoverished populations; and because ...
Muthuuri, J.M.
core +1 more source
A Closer Look at the Global Management of Spina Bifida: The Implementation of Endoscopic Third Ventriculostomy in the Treatment of Spina Bifida-Related Hydrocephalus in Africa [PDF]
, 2018 Spina bifida, specifically myelomeningocele, is a debilitating neural tube defect that affects patients and families throughout the world. Traditional management and treatment methods are described, followed by an explanation of why this is often ...
Burckart, Caryssa
core +1 more source
IMPLICATIONS OF PHYSICALTHERAPY REGARDING THE REHABILITATION OF PATIENT WITH SPINA BIFIDA OCCULTA [PDF]
Annals of the “Ştefan cel Mare” University: Physical Education and Sport Section - The Science and Art of Movement, 2018 Today, physicaltherapy requires a wide field of knowledge (anatomy, pathology, psychology, rehabilitation medicine), its applications are common in various diseases of various devices and systems of the body.
Ileana Juravle
doaj
Estimating the burden of neural tube defects in low– and middle–income countries [PDF]
, 2014 To provide an estimate for the burden of neural tube defects (NTD) in low– and middle–income countries (LMIC) and explore potential public health policies that may be implemented.
Annie Lo, Dora Polšek, Simrita Sidhu
core +1 more source
Weaver Syndrome: A Rare Cause of Neonatal Macrosomia and Dysmorphism. A Case Report. [PDF]
Batna Journal of Medical SciencesWeaver syndrome is a rare genetic disorder characterized by abnormally excessive growth both in utero and postnatally. It is associated with a mutation in the EZH2 gene, which leads to accelerated bone development and other clinical manifestations such
Fadila BENDAOUD, Hemza GUELLOUH
doaj +1 more source
Gorlin syndrome in a patient with skin type VI [PDF]
, 2019 Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant disorder that is characterized by multiple basal cell carcinomas developing at a young age, keratocystic odontogenic tumors of the jaw, palmar or plantar ...
Anderson, Kathryn L +3 more
core