Spina bifida, the normal, the pathological and the in-between: first evidence from a forensic osteological collection.

Spina bifida (SB), a rare congenital disorder, is often mentioned as an individualizing factor in Forensic Anthropology. A lack of empirical data regarding SB is noticed in the scientific literature. Moreover, within the scope of anthropological research on SB disparities in terminology, classification systems, and methodological approaches result in incomparable results. The wide range (1,2%-50%) of "spina bifida occulta" reported prevalences is a good example. This research aims to analyze and debate the standard diagnostic criteria of SB on human skeletal remains, and attempts to elaborate on an universal system, premised on the distinction between SB as a pathology, and cleft neural arch (CNA) as an anatomical variant, according to Barnes (1994, p. 360 [1). A study-base of 209 individuals (88 males; 121 females; 44-99 years old) from the 21st Century Identified Skeletal Collection from the University of Coimbra (CEI/XXI) was macroscopically analyzed, focusing on the sacrum and remaining vertebrae. Four individuals presented complete posterior opening of the sacral canal (2,6%[4/156]). The observed bone changes, combined with the analysis of the entire skeleton, indicate that CNA, rather than SB linked to a neural tube defect, is the most reliable explanation for these cases. Overall, CNA was observed on 11 skeletons (7.05% of 156). The viability and applicability of the developed methodology for the identification of SB/CNA in forensic and/or osteological contexts are discussed, as well as the possibility of a lower prevalence of SB occulta, in the general population, than speculated before. HIGHLIGHTS: • Spina bifida has been studied so far under different methodologies, classification systems and nomenclature, leading to unstandardized and incomparable data. • Spina bifida as a pathological manifestation of a neural tube defect, as opposed to cleft neural arch as a simple form of skeletal variation. • Both spina bifida and complete sacral cleft fit the criteria of an individualizing trait in Forensic Anthropology.

Lumbo-sacral malformations and spina bifida occulta in medieval skeletons from Brittany.

INTRODUCTION: Compared with the other French regions, the incidence of neural tube defects is raised in Brittany. It can be explained by the Celtic origin of the Britton people, who migrated from Great Britain in the High Middle Ages. Notwithstanding, there are no historical or archeological evidences of the occurrence of these pathological conditions in medieval Brittany. MATERIALS AND METHODS: We investigated the incidence of lumbo-sacral malformations on the skeletal remains of 30 individuals excavated from the necropolis of Saint-Urnel (southwest Brittany). RESULTS: We found out several anatomical variations among five specimens, three of which had spinal dysraphism involving the sacrum. CONCLUSION: Our results enrich the very few paleopathological data about spinal dysraphism, from the Hippocratic Corpus to the first description of Spina Bifida in sixteenth century. But, their interpretation remains delicate until the same genetic factors are shown in the etiology of both open and closed spinal dysraphism.

Sacral spina bifida occulta rare occurrence in Byzantine Belentepe population in Mugla, Turkey: A possible case for adequate folic acid intake.

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.

The paleoepidemiology of Sacral Spina Bifida Occulta in population samples from the Dakhleh Oasis, Egypt.

OBJECTIVE: To document sacral spina bifida occulta (SSB0) prevalence in a population sample from the Dakhleh Oasis, Egypt, and address methodological issues in recording and quantifying SSBO variations. MATERIALS: 442 adult sacra from two temporally disjunct samples from the same deme traversing the 3rd intermediate (TIP) and the Roman Periods. METHODS: Sacra were scored for SSBO, excluding the sacral hiatus. Risk of SSBO was calculated with the common odds ratio and statistical significance by X2. Data were compared to other archaeological SSBO data. RESULTS: SSBO was present in 15.6% of the sample with a slight, but not significant, temporal increase (TIP to Roman Period) in males, and a significant age-correlated increase in both sexes. Most open sacra occurred in young adults. CONCLUSIONS: Data support that SSBO can be considered as a morphogenetic variant. Dakhleh data fall within the prevalence range for most populations, however inter-population comparisons are complicated by methodological inconsistencies. SIGNIFICANCE: SSBO can be used in paleogenetic research. LIMITATIONS: Methodological differences in scoring SSBO prevent effective comparative study. SUGGESTED FUTURE RESEARCH: Future studies require more rigorous and standardized scoring methods. aDNA may be used to corroborate the morphogenetic value of SSBO and determine its clinical significance.

Changes of the lumbar spinal canal proximal to spina bifida occulta. An archaeologic study with clinical significance.

STUDY DESIGN: This archaeologic study, based on four populations, examines the incidence of spina bifida occulta in the lumbar spine and the size of the vertebral canal proximal to the lesion. OBJECTIVES: To ascertain any significant change in the dimensions of the lumbar spinal canal of skeletons with spina bifida occulta. The incidence of the lesion also was compared in the separate genetic groups. METHODS: Central canals of 1760 lumbar vertebrae were examined. Silhouette, unmagnified pictures of the vertebral canals were measured by computerized image analysis. RESULTS: The mid-sagittal diameter at L4 and L5 and the cross-sectional area at L5 were found to be significantly larger proximal to the lesion compared with the unaffected spines. The overall incidence was 18%. CONCLUSIONS: The capacity of the lumbar canal is greater proximal to spina bifida occulta. Therefore, delayed closure of the neural arch at a single segment has morphologic significance to the more proximal spine.

Developmental hip dysplasia in the Medici family: Giovanna from Austria (1548-1578) and her daughter Anna (1569-1584).

The skeletal remains of Giovanna from Austria (1548-1578), first wife of the Grand Duke of Tuscany Francesco I (1541-1587), and their daughter Anna (1569-1584) were exhumed from the Medici Chapels in the Basilica of S. Lorenzo in Florence and submitted to anthropological and paleopathological study. The superior portion of the acetabulum of Giovanna is sloping, and reveals bilateral acetabular dysplasia. The same defect is also present in Anna, together with sacral spina bifida occulta. In both women the anatomical abnormality is limited to a deformation in the roof of both acetabulae and the femoral heads continued to articulate normally within the hip joint. The presence of bilateral acetabular dysplasia in the skeletal remains of Giovanna and her daughter Anna can be explained by a series of risk factors to which the two Medici women were exposed: female sex, practice of swaddling in the first months of life, as well as scoliosis and pelvic deformity for Giovanna and family history for Anna.

[Spina bifida occulta associated with environmental arsenic exposure in a prehispanic sample from northern Chile]. / Evaluación de la frecuencia de espina bífida oculta y su posible relación con el arsénico ambiental en una muestra prehispánica de la Quebrada de Camarones, norte de Chile.

BACKGROUND: The Camarones River Valley, located in the extreme north of Chile, is characterized by high environmental arsenic levels and an arid desert. It has been inhabited by humans for the past 7,000 years. Evidence exists for chronic arsenic poisoning in both prehispanic and present populations residing in the area. Chronic arsenic exposure causes multi-systemic problems and can induce congenital malformations, in particular neural tube development defects such as spina bifida. AIM: To study the prevalence of spina bifida among prehispanic mummies of the area. MATERIAL AND METHODS: One hundred and twenty prehistoric adult individuals were analyzed for evidence of spina bifda occulta of the sacrum in skeletal samples from the sites of Camarones 8, Camarones 9, Azapa 140 and Lluta 54, held in repository at the Museo Universidad de Tarapacá de Arica- San Miguel de Azapa. A diagnosis was considered positive when at least S1, S2 or S3 were affected. As controls, mummies of individuals that resided in Lluta and Azapa valley, with a low arsenic exposure, were analyzed. RESULTS: The frequency of spina bifida occulta among samples from the Camarones coast and Lluta and Azapa Valley were 13.5 and 2.4% respectively. CONCLUSIONS: Considering these were contemporaneous samples, and are believed to have had no other differences in diet or other factors, the differential exposures to arsenic could have produced the observed differences in spina bifida frequencies.

Secular trend in the opening of the sacral canal: an Australian study.

STUDY DESIGN: Computer tomography scans were used to asses the opening of the sacral canal. OBJECTIVE: We investigated the prevalence of sacral spina bifida occulta in 2 population groups: born 1940 to 1950 and 1980 to 1990. SUMMARY OF BACKGROUND DATA: Comparison of the prevalence of spina bifida occulta in the first-century Pompeii with that in 20th century European and Mediterranean populations indicates that the degree of the closure of vertebral arches in the sacrum has undergone changes and the prevalence of spina bifida occulta is increasing. METHODS: Transverse computer tomograph scans and multiplanar reconstruction images of sacra of 100 males and 100 females born 1940 to 1950 and 100 males and 100 females born 1980 to 1990 were used after ethics committee approval. RESULTS: The individuals born later have significantly more open sacral arches when compared with those born 40 years earlier, especially in the midsacral region. Also, males have open sacral arches in the rostral segments of the sacrum more than females. CONCLUSION: This study demonstrates a secular trend in the opening of the sacral canal in both sexes that occurred within 2 generations. Also, the increased prevalence of open sacral canal in males suggests a different response between sexes to the forces of evolution.

Dr. Ahmet Münir Sarpyener: pioneer in definition of congenital spinal stenosis.

Although there are many reports regarding the spinal surgical applications before the 19th century, the definition of spinal disorders and application of the most novel surgical techniques have been performed in last 2 centuries. Lumbar spinal stenosis was reported in the first half of the 20th century. The definition of the lumbar spinal stenosis was commonly attributed to Dr. Verbiest. However, there were some reports regarding the symptoms attributable to lumbar spinal stenosis before him. On the other hand, Dr. Sarpyener, a Turkish surgeon, reported for the first time congenital spinal stenosis, a special variety of spinal stenosis. The aim of this study is to review the biography, scientific studies, and spine applications of Dr. Sarpyener, a pioneer in the field of spina bifida and congenital spinal stenosis.

Spondylolysis, spondylolisthesis, and lumbo-sacral morphology in a medieval English skeletal population.

The prevalence of spondylolysis and spondylolisthesis was studied in an adult skeletal series from a rural English medieval archaeological site. Attempts were made to evaluate the association of three aspects of lumbo-sacral skeletal morphology (pelvic incidence (a measure of the anterior inclination of the sacral table), lumbar transverse process width, and the presence of lumbo-sacral spina bifida occulta) with spondylolysis and spondylolisthesis. Results indicated a high prevalence of spondylolysis compared with a modern reference population, but few cases of spondylolisthesis were identified. Analysis of prevalence with respect to age suggests that in the study population, pars interarticularis defects generally formed late in the growth period or early in adult life. The study group showed a high mean pelvic incidence compared with modern Western Europeans, indicating a more steeply inclined sacral table, which may have elevated the risk of developing pars interarticularis defects. However, no statistically valid association could be demonstrated between the presence/absence of spondylolysis and pelvic incidence in the study material. There was no evidence for a link between lumbar transverse process index or lumbo-sacral spina bifida occulta and spondylolysis/spondylolisthesis. It is concluded that the potential role of lumbo-sacral morphology, as well as of activity regimes, should be considered when interpreting spondylolysis in paleopathological studies. If the frequency of spondylolysis is to some extent an indicator of past activity regimes, it may reflect lifestyle in younger individuals rather than in mature adults. Further work investigating the link between spondylolysis and lumbo-sacral morphological variables in premodern populations would be of value.

Evaluación de la frecuencia de espina bífida oculta y su posible relación con el arsénico ambiental en una muestra prehispánica de la Quebrada de Camarones, norte de Chile / Spina bifida occulta associated with environmental arsenic exposure in a prehispanic sample from northern Chile

Background: The Camarones River Valley, located in the extreme north of Chile, is characterized by high environmental arsenic levels and an arid desert. It has been inhabited by humans for the past 7,000 years. Evidence exists for chronic arsenic poisoning in both prehispanic and present populations residing in the area. Chronic arsenic exposure causes multi-systemic problems and can induce congenital malformations, in particular neural tube development defects such as spina bifda. Aim: To study the prevalence of spina bifda among prehispanic mummies of the area. Material and Methods: Onehundred and twenty prehistoric adult individuals were analyzed for evidence of spina bifda occulta of the sacrum in skeletal samples from the sites of Camarones 8, Camarones 9, Azapa 140 and Lluta 54, held in repository at the Museo Universidad de Tarapacá de Arica- San Miguel de Azapa. A diagnosis was considered positive when at least S1, S2 or S3 were affected. As controls, mummies of individuals that resided in Lluta and Azapa valley, with a low arsenic exposure, were analyzed. Results: The frequency of spina bifda occulta among samples from the Camarones coast and Lluta and Azapa Valley were 13.5 and 2.4 percent respectively. Conclusions: Considering these were contemporaneous samples, and are believed to have had no other differences in diet or other factors, the differential exposures to arsenic could have produced the observed differences in spina bifda frequencies.

The incidence of spina bifida occulta in a historic and a modern London population.

The incidence of spina bifida occulta was assessed in two London populations, one historic and the other contemporaneous. No significant differences were found between the two groups with regard to either overall frequency or frequency at specific sites within the lumbosacral column. This finding was compared to other studies reporting secular increases in the frequency of spina bifida occulta in areas outside the United Kingdom.