A description of spina bifida cases and co-occurring malformations, 1976-2011.

Mandatory folic acid fortification in the United States corresponded with a decline in the prevalence of spina bifida (SB). The aim of this study was to describe the epidemiologic characteristics of isolated versus non-isolated SB cases in both pre- and post-fortification periods. SB cases in the Slone Epidemiology Center Birth Defects Study from 1976 to 2011 without chromosomal anomalies and syndromes were included. A maternal interview, conducted within 6 months of delivery, collected information on demographics, reproductive history, diet, and supplement use. Daily folic acid intake in the periconceptional period was calculated using both dietary and supplement information and categorized as low intake (<400 µg/day) or high intake (≥400 µg/day). SB cases (n = 1170) were classified as isolated (80.4%) or non-isolated (19.1%). Non-isolated cases were further divided into subgroups based on accompanying major malformations (midline, renal, genital, heart, laterality). Compared to non-isolated cases, isolated cases were more likely to be white, non-Hispanic and have more than 12 years of education. Cases in the renal, genital, and heart subgroups had the lowest proportions of mothers with a high folic acid intake. The change from pre- to post-fortification was associated with a decrease in the proportion of isolated cases from 83% to 72%, though in both periods isolated cases were more likely to be female and their mothers were more likely to have high folic acid intake. These findings highlight the importance of separating isolated and non-isolated cases in etiologic research of SB.

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.

The history of the surgical repair of spina bifida.

INTRODUCTION: The history of surgical spina bifida repair has seen many successes and failures. Many early surgeons attempted treatment of open spina bifida defects before a clear understanding of the disease process or pathology had been discovered. CONCLUSIONS: The attempts, while often fruitless, served to better our understanding of the disease and represent stepping-stones to the treatment we successfully use today. The present paper reviews the history of the surgical treatment of myelomeningoceles.

Harvey Cushing and early spinal dysraphism repair at Johns Hopkins Hospital.

As neurological surgery began developing into a surgical subspecialty in the US at the turn of the 20th century, with Harvey Cushing at the forefront, the operative treatment of spinal dysraphism was refined with attempts to minimize complications. Following institutional approval, and through the courtesy of the Alan Mason Chesney Archives, the authors reviewed the Johns Hopkins Hospital surgical files from 1896 to 1912. Patients presenting with spinal dysraphism who underwent surgical intervention by Dr. Harvey Cushing were selected for further analysis. Ten patients presented for surgical intervention for spinal dysraphism, and 7 of these had concurrent hydrocephalus. The mean age of these patients was 5.8 months (range 1-14 months). The mean length of stay was 20.4 days. There were 6 inpatient deaths. At the time of last follow-up, 2 patients were well, 1 patient remained unimproved, and 1 patient (for whom no discharge outcome was available) had died. The cases described in detail offer insight into the breadth of Cushing's practice and the varied approaches he employed. The use of Faradic stimulation to assess nerve root function, the use of complex multilayered closures, and the creation of operative tables for combined treatment of hydrocephalus and spinal dysraphism illustrate Cushing's contributions to developing the field of pediatric neurosurgery.

Biographical sketch: Friedrich Daniel von Recklinghausen, MD (1833-1910).

This biographical sketch on Friedrich Daniel von Recklinghausen corresponds to the historic text, The Classic: Studies on Spina bifida (1886), available at DOI 10.1007/s11999-010-1729-2 .

Giovanni Battista Morgagni and his contribution to pediatric surgery.

Pediatric surgery is a less than a century old surgical specialty. However, early knowledge of human malformations and pediatric surgical conditions dates back to centuries before. One of the main contributors to progress in these fields was Giovanni Battista Morgagni (1682-1771), who also had a substantial weight in the development of future pediatric surgery. With his masterpiece De Sedibus et Causis Morborum per Anatomen Indagatis (On the Seats and Causes of Diseases Investigated by Anatomy) (1761), he set the basis for modern pathology. In this textbook, Morgagni was the first to describe anatomical elements like the trigonum sternocostale dextrum (the Morgagni's foramen), the appendix testis (the Morgagni's hydatid), and the vertical folds of distal rectum (the Morgagni's columns). He was also the first to describe pediatric pathological conditions like epispadia, meconium peritonitis, Crohn's disease, and coarctation of the aorta. Finally, he substantially contributed to the understanding of the pathophysiology of conditions like the vesico-ureteral reflux, the anterior wall defects (gastroschisis/omphalocele), and the spina bifida. For this, it was said of him: "If all the anatomical findings made by Morgagni should bear his name, probably one third of human body would be called Morgagni's."

Paleopathologies of the vertebral column in medieval skeletons.

Paleopathological data provide valuable information about health, longevity and mortality in earlier human populations. We investigated the incidence of spinal pathologies on 54 individuals (1045 vertebrae and 18 sacral bones) that belong to a medieval skeletal series discovered in the Dalheim monastery (Northwest Germany) and compared them with contemporary and recent populations. The skeletons were analyzed with anthropological methods (sex and age determination), by macroscopic inspection, and, if pathologies of the spine and the sacrum were visible, also by X-ray. We investigated evidence of trauma, specific and nonspecific infectious diseases, joint diseases, tumors, and congenital as well as metabolic disorders. Radiocarbon determination of four samples of different specimens was also undertaken revealing a historic dating of ca. 1050 AD. The most common pathological findings were degenerative changes of the spine found in 29 individuals (53.3%). Examples of infections of the spine were rare (0.8% of all vertebrae). There were no cases of traumatic injuries of the spine. The prevalence of spondylosis deformans, the most commonly found type of pathology was found to be higher in the lumbar region, in males as well as in individuals of low stature.

The problem with prevention: the case of spina bifida.

In this paper, I present a viewpoint about prevention and spina bifida that is not usually expressed within the occupational therapy literature. Using an autoethnographic account, I convey my experiences as a person with impairments from spina bifida in order to problematize current preventive efforts undertaken to eradicate this birth defect. This self-reflexive account connects my personal experiences to historical and medical views about spina bifida. The messages inherent in preventive efforts are discussed from a disability rights perspective. Occupational therapists are challenged to examine their attitudes toward disability, act as advocates in their practice, and, in a more informed manner, support or contest policy initiatives.

Cushing's experience with the surgical treatment of spinal dysraphism.

Although Harvey Cushing is best known for his role in developing surgical treatments for tumors of the central nervous system, he performed diverse neurosurgical procedures throughout his career, both at The Johns Hopkins Hospital (1886--1912) and at the Peter Bent Brigham Hospital (1912--1932). His unique and innovative approach to the treatment of myelomeningoceles associated with hydrocephalus, displayed early in his career, is characteristic of his attempts to circumvent the technical limitations of his time in the management of neurosurgical problems. In this report, the authors discuss the evolution of Cushing's technique in the treatment of myelomeningoceles through two illustrative patient records.

Sagittal clefting of the body and other vertebral developmental errors in Canadian Inuit skeletons.

The objective of this study was to determine the expression, distribution in the column, and overall frequency of sagittal clefting of the vertebral body in the skeletons of two Canadian Inuit groups. One group, referred to as Thule-Historic, lived along the coast northwest of Hudson Bay, while the other, known as the Sadlermiut, were limited to Southampton Island and Coats Island north of Hudson Bay. The Thule-Historic people are thought to be the ancestors of the present-day Inuit of this region, whereas the much smaller, relatively isolated Sadlermiut became extinct during the winter of 1902-1903. The sagittal clefting results were also compared with those obtained for two other vertebral developmental problems, segmentation error and spina bifida. Sagittal clefting was found to occur with high frequency in the two Inuit series, especially in the region T6-T10. Segmentation errors were found to occur in approximately the same region of the column, while spina bifida produced a completely different pattern, occurring primarily at T11 and S1. The T11 involvement is limited to females, while S1 involvement occurs primarily in males. Sagittal clefting and spina bifida occur in the same individual more frequently than sagittal clefting and segmentation error. Possibly reflecting the smaller population size and isolated location of the Sadlermiut, sagittal clefting was found with greater frequency and intensity in the skeletons of this group than in those of the Thule-Historic Inuit. Am J Phys Anthropol, 2003.

Encounters in a world of pain: an autoethnography.

Pain, a major health problem in the United States, is a highly complex and subjective experience that is poorly understood by many medical, psychological, and rehabilitation practitioners. In this paper I use a qualitative research methodology, autoethnography, to present a personal narrative about my experience of chronic pain. In this research I am both the research participant and the researcher. I begin with my personal narrative. I then problematize conceptions about chronic pain and discuss them from the point of view of my own narrative and from stories and ethnographies in the literature. Finally I reflect on how occupational therapists can more effectively work with persons with chronic pain.

The history of spina bifida, hydrocephalus, paraplegia, and incontinence.

This paper covers the history since ancient times of spina bifida (SB) and its main associated conditions, viz., hydrocephalus, paraplegia and incontinence. Particular stress has been placed on the ancient authors who recognised these conditions. The article concludes with the history of some general aspects of SB and the dilemmas in its treatment.

Diseases of the spine in South American mummies.

OBJECTIVE: The skulls and spinal columns of people from ancient civilizations, which frequently are found in a preserved state at archeological sites, can provide a large amount of information about these individuals' physical condition through paleopathological investigation. METHODS: This study represents the examination of more than 700 human remains dating back more than 8000 years that were recovered from archaeological excavations in the Andean region of southern Peru and northern Chile. RESULTS: Examples of congenital malformations, degenerative processes, infectious diseases, neoplasias, and traumatic diseases were discovered. Congenital anomalies such as spina bifida occulta were relatively common in these populations. No cases of meningomyelocele were discovered. The most common pathological findings were degenerative changes of the vertebral bodies. Large cervical and lumbar osteophytes were identified in some remains. Several cases of cervical spondylosis were determined to be the result of an occupational disease resulting from carrying heavy loads on the back. These heavy loads were supported by wearing around the forehead a tumpline, known as a capacho. The most common infectious disease process in the spine was due to tuberculosis. The diagnosis was made by radiological and histopathological studies, and in several cases the organism Mycobacterium tuberculosis was identified in the soft tissues. Metastatic lesions on the vertebral bodies were identified in a single case. Examples of traumatic spinal injury were rare. Compression fractures were noted infrequently. CONCLUSION: Diseases of the spinal column in the ancient inhabitants of the Andean region of South America were similar to those that affect the present-day population of that area.