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![32. Schematic drawing of the malformation. Reproduced from [63], with permission](profile/Giuseppe-Cinalli/publication/226064684/figure/fig29/AS:393709142200328@1470878982533/Schematic-drawing-of-the-malformation-Reproduced-from-63-with-permission.png)
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Spina bifida is a frequent congenital malformation involving the spinal cord. It was first described by Nicolas Tulp in 1651
(Figs. 2.1 and 2.2). Nicolas Tulp is also famous for the portrait Rembrandt painted of him during his anatomical lessons.
The term spina bifida was suggested by Tulp and proposed solely to describe the vertebral anomaly that...
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Objective
To determine if the fortification of wheat and maize flours with iron and folic acid – which became mandatory in Brazil from June 2004 – is effective in the prevention of neural tube defects.
Methods
Using data from national information systems on births in central, south-eastern and southern Brazil, we determined the prevalence of neura...
Citations
... Another example was found in the Early Bronze Age site of Bab edh-Dhra, Jordan dated between 3150 and 3000 BCE (Ortner 2003). According to Aufderheide & Rodríguez-Martín (1998), the defect was first described by Recklinghausen in 1882, however Catala (2008) states that it was first described by Nicolas Tulp in 1651. ...
Spina bifida may occur during the first weeks after conception; folic acid deficiency is strongly related to this anomaly. We argue that the low prevalence rate of spina bifida may indicate a relatively good nutrition state of a population, given that folic acid is found in many food products commonly eaten. The aim of this study is to examine the relationship between folic acid intake and spina bifida occulta prevalence in the Belentepe Byzantine population in Anatolian peninsula, and to compare the prevalence rates with various other ancient Anatolian populations by focusing on sacral spina bifida occulta in the Byzantine population. A total of 62 available human sacra were included in the study and compared with other sacra from relevant research using chi-squared test. Four male individuals had sacral spina bifida occulta with a prevalence rate of 6.45%, which is found to be lower in comparison to other ancient populations from western to eastern Anatolia. The present-day ecology of Belentepe indicates that foods rich with folic acid are common in and around the region. While some studies indicate the contrary, a comparison regarding the sacral spina bifida occulta prevalence with other populations in Anatolia shows a correlation between folic acid intake and proximity to a Mediterranean climate.
... Spinal dysraphism or spina bifida is the most common congenital malformation involving the spinal cord and, along with anencephaly, make up the two most common neural tube defects. Together they account for about 90% of all cases with 10% of the other cases consisting primarily of encephalocele (Catala 2008;Santos & Pereira 2007). Two factors determine the type and severity of dysraphism: the location on the neural tube where the closure malformation occurred and the intensity of this abnormality (Henriques & Pianetti 2011). ...
... The term spina bifida was suggested by Tulp in 1651 and intended exclusively to describe a spinal abnormality involving the duplication of the vertebra spinous process, a flawed bone closure in the spinal column. However, the term spina bifida is still widely used as a synonym for spinal dysraphism (Catala 2008;Rossi et al. 2007). ...
For the majority of individuals with spina bifida (SB) is the intermittent bladder
catheterization (IC) required. Identifying the factors involved in IC, especially selfcatheterization
is fundamental in the development of effective training programs and
public policies consistent with patient reality. This study sought to contribute to this
end, describing and comparing the technical, bio-psycho-social and familial factors
related to the use of IC. The study included 100 Brazilian individuals and 100 German
individuals, of which 108 were female and 92 were male, with an age range of 0 to 55
years and a mean age of 14 years. Data were collected using questionnaires, printed
(Brazil) and online (Germany), and analyzed using statistical tests, i.e. multivariate
logistical regression and analysis of variance. Predictive factors for self-catheterization
were defined, such as having six years of schooling or more, not having hydrocephalus,
having a lower level of SB (sacral and lumbar), and differences related to country. The
study also demonstrated that the non-application of IC was directly influenced by
temporary interruptions of the procedure, the daily frequency of IC and the existence of
technical difficulties. Also, it is important to note that continence, even partial, was
achieved by 61.5% of the participants and that self-catheterization was responsible for
increasing the likelihood of continence up to 3 times. The benefits of IC were
statistically proven, such as reducing the number of UTIs (urinary tract infections),
which were on average higher in Germans than in Brazilians. Interestingly, there was no
difference in the number of UTIs among the Germans who performed disinfection
(octenidine, polyhexanide), those who cleaned with soap and water and those who did
not perform any cleaning before the introduction of the urethral catheter. The
preparation of the transition to adulthood starts in childhood also for individuals with
SB. Self-catheterization is part of the process of autonomy in self-care and social
participation, and therefore deserves to be studied. Cooperative studies between
different countries and cultures contribute to understanding the development and
rehabilitation of people with SB.
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted. Sixteen papers were included; 11 of these described developmental disorders. The most common reported anomalies were neural tube defects, corpus callosum agenesis or hypoplasia, intracranial lipoma, Arnold–Chiari malformations, hydrocephaly, ventriculomegaly, and cerebral hypoplasia. The prevalence of CNS anomalies in CFM varied from 2% to 69%. The prevalence of developmental disorders, such as intellectual disability, language or speech developmental delay, and neuropsychomotor delay, varied from 8% to 73%. This study suggests that CNS anomalies and developmental disorders are seen in a substantial proportion of patients with CFM. Further research should focus on determining which features of CFM are correlated with CNS anomalies to allow adequate screening and timely care.
Les dysraphismes vertébromédullaires sont la première cause d’atteinte médullaire chez l’enfant. Les dysraphismes fermés, maladie uniquement locorégionale, entrent souvent dans un contexte polymalformatif avec une déficience neuro-orthopédique et des troubles sphinctériens. Les dysraphismes ouverts, anomalie générale du système nerveux central, comportent en plus des troubles cognitifs une malhabileté manuelle. Le passage de l’adolescent en milieu adulte obéit à des règles. Le suivi en milieu adulte est peu différent des atteintes médullaires acquises.
Myelomeningocele has been recognized since ancient times although written descriptions began not before the 17th century. Among all serious congenital malformations, myelomeningocele is unique that is has a steady and considerable prevalence while being compatible with life. It has a dismal prognosis when left untreated where virtually all die within the first year while aggressive treatment have a profound effect on survival and quality of life. Effective surgical treatment became possible parallel to the treatment of hydrocephalus in the late 1950s. Advent of the shunt systems undoubtedly changed the morbidity and mortality rates due to associated hydrocephalus. Aggressive and effective treatment improved survival rates but also those suffering physical and mental disabilities have increased as well. Ethical and socioeconomic concerns have led to proposal for selective treatment criteria which have raised arguments on medical and ethico-legal rounds. After the swing of the pendulum between early treatment in all affected children and selective treatment of those who fulfilled the criteria for good prognosis, early myelomeningocele repair is practiced widely unless the infant is critically ill.
