scholarly journals Etiology and Pathophysiology of the Spina Bifida

2021 ◽  
Author(s):  
René Opšenák ◽  
Romana Richterová ◽  
Branislav Kolarovszki

The spina bifida is a congenital anomaly that results in an abnormal formation of the spine and the spinal cord. The two dominant types of spinal dysraphism are based on appearance - open spina bifida if the lesion is visible and closed spina bifida if the lesion is not visible on the body surface. These conditions lead to a different spectrum of neurological effects according to the degree of neurulation disruption. The prevalence of neural tube defects has different rates among different ethnicity, geography, gender, and countries. Genetic, nutritional and environmental factors play a role in the etiology and pathogenesis of the spina bifida. Congenital anomalies in the vast majority concern children living in the early neonatal period who have important medical, social or educational needs. The lifetime cost of a child born with the spina bifida is estimated at over €500,000.

Author(s):  
Hary F. Rabarikoto ◽  
Patrick S. Rakotozanany ◽  
Rosa L. Tsifiregna ◽  
Willy Ratovondrainy ◽  
Domoina M. A. Randriambololona

Craniorachischisis is the most severe type of neural tube defect in which almost the entire brain and spinal cord remain open. We report a case in a female fetus born at gestational week 38, with both anencephaly and open spina bifida. It was the second pregnancy of a 26-year-old woman. The first pregnancy had to be interrupted by a medical termination at 18th gestational week because of an anencephaly. We aim to report the first case documented in Madagascar.


Author(s):  
Stephen L. Kinsman

The term “spinal dysraphism” encompasses the broadest array of the conditions known as the neural tube defects. The open neural tube defects (spina bifida aperta and cystica) include both disorders of primary and/or secondary neuralation and are best defined as myelomeningocele complex (MMC) due to their protean nervous system manifestations beyond the spinal lesion. Closed spinal dysraphisms (so-called spina bifida occulta) include lipomatous lesions, forms of tethered spinal cord, sinus tracts, and forms of split spinal cord (diastematomyelia). Both genetic and environmental etiologies have been identified. Gene-environment and gene-gene interactions are also important in the pathobiology of these conditions.


2001 ◽  
Vol 86 (2) ◽  
pp. 1017-1025 ◽  
Author(s):  
Ari Berkowitz

Behavioral choice can be mediated either by a small number of sharply tuned neurons or by large populations of broadly tuned neurons. This issue can be conveniently examined in the turtle spinal cord, which generates each of three forms of scratching—rostral, pocket, and caudal—in response to mechanical stimulation in each of three adjacent regions of the body surface. Previous research showed that many propriospinal neurons are broadly tuned to either the rostral scratch region or the pocket scratch region, but responses to caudal scratch stimulation could not be examined in that reduced preparation. In the current study, individual spinal neurons were recorded extracellularly from the gray matter of the turtle spinal cord hindlimb enlargement, while sites in the rostral, pocket, and caudal scratch regions were mechanically stimulated. Many neurons were broadly tuned to the caudal scratch region; other neurons were broadly tuned to either the pocket scratch or rostral scratch region. All three types were typically found within a single animal. These data are consistent with the hypothesis that the turtle spinal cord relies on large populations of broadly tuned neurons to select each of the three forms of scratching. In addition, neurons that were broadly tuned to each of the scratch regions were typically found in each spinal cord segment and within the same range of mediolateral and dorsoventral locations. Providing that these neurons are related to the selection and generation of the three forms of scratching, this would indicate that cells of this type are not segregated into distinct regions of the spinal cord gray matter.


2016 ◽  
Vol 25 (1) ◽  
pp. 78-87 ◽  
Author(s):  
Sam Safavi-Abbasi ◽  
Timothy B. Mapstone ◽  
Jacob B. Archer ◽  
Christopher Wilson ◽  
Nicholas Theodore ◽  
...  

An understanding of the underlying pathophysiology of tethered cord syndrome (TCS) and modern management strategies have only developed within the past few decades. Current understanding of this entity first began with the understanding and management of spina bifida; this later led to the gradual recognition of spina bifida occulta and the symptoms associated with tethering of the filum terminale. In the 17th century, Dutch anatomists provided the first descriptions and initiated surgical management efforts for spina bifida. In the 19th century, the term “spina bifida occulta” was coined and various presentations of spinal dysraphism were appreciated. The association of urinary, cutaneous, and skeletal abnormalities with spinal dysraphism was recognized in the 20th century. Early in the 20th century, some physicians began to suspect that traction on the conus medullaris caused myelodysplasia-related symptoms and that prophylactic surgical management could prevent the occurrence of clinical manifestations. It was not, however, until later in the 20th century that the term “tethered spinal cord” and the modern management of TCS were introduced. This gradual advancement in understanding at a time before the development of modern imaging modalities illustrates how, over the centuries, anatomists, pathologists, neurologists, and surgeons used clinical examination, a high level of suspicion, and interest in the subtle and overt clinical appearances of spinal dysraphism and TCS to advance understanding of pathophysiology, clinical appearance, and treatment of this entity. With the availability of modern imaging, spinal dysraphism can now be diagnosed and treated as early as the intrauterine stage.


2020 ◽  
Vol 13 (10) ◽  
pp. e235395
Author(s):  
Delia Roxana Ungureanu ◽  
Lucian George Zorila ◽  
Razvan Grigoras Capitanescu ◽  
Dominic Gabriel Iliescu

Our communication presents a prenatally detected case with severe spinal defect detected in the first trimester of pregnancy, accompanied by a large skin-covered myelomeningocele but normal cranio-cerebral structural appearance.These findings suggest that in the first trimester, the extent of the spinal defect, the cerebrospinal fluid leakage to a large, but skin-covered, meningocele and fixation of the spinal cord at the lesion are not sufficient to determine downward hindbrain displacement and the development of secondary signs for open spina bifida.Therefore, we suggest a careful evaluation of the fetal cerebral features if a meningocele is detected. The presence of the skin covering the lesion may not be evident in the first trimester, but the absence of intracranial open spina bifida markers may indicate a ‘closed’ spinal defect, which generally associates a good neurological outcome. Also, studies aimed to investigate the accuracy of the intracranial features for open spina bifida detection should consider the possibility of ‘closed’ myelomeningoceles to avoid incorrect correlations.


1976 ◽  
Vol 39 (3) ◽  
pp. 564-581 ◽  
Author(s):  
B. W. Peterson ◽  
J. I. Franck ◽  
N. G. Daunton

1. In cats anesthetized with chloralose, responses of medial pontomedullary reticular neurons to stimulation of the body surface, vestibular nerves, superior colliculi, pericruciate cortices, cerebral peduncles, and spinal cord were studied at different stimulus rates. Raising the rate from 1/10 s to between 1/4 s and 2/s caused a significant decrement or increment in the response of most neurons tested. Response decrement typically began near the beginning of the higher frequency stimulus sequence and increased throughout the sequence. Response increment usually began somewhat later, rose to a peak, and then declined. Recovery from response decrement or increment usually occurred within 30-60 s at a 1/10 s stimulus rate.2. Measurements of response latency and of changes occurring in the initial and longer latency portions of responses indicated that all components of a response typically decreased or increased in parallel. Background spontaneous activity did not change during response decrements, but sometimes increased during response increment.3. Where changes could be detected, response decrement usually developed more rapidly when a sequence of repetitive stimulation was repeated.4. Response decrement was most pronounced at the highest stimulation rates and lowest stimulus intensities. Response increment was usually maximal at a stimulus rate of 1/s: at lower rates less increment occurred; at higher rates responses began to exhibit decrement.5. Response changes varied with the type of stimulus applied. Response decrements predominated when the body surface, vestibular nerves, or ipsilateral superior colliculus were stimulated. Approximately equal amounts of response increment and decrement were produced by repetitive stimulation of the cerebral peduncles and contralateral superior colliculus. Stimulation of the surface of the pericruciate cortex or of the spinal cord usually produced a long-lasting response increment.6. Generalization of response decrement and increment was observed in cases where trains of stimuli at a rate of 2/s applied to one point produced changes in the response to stimulation of another point which was tested once per 10 s and where single-shock stimulation of the first point was without effect on the test response. Generalization of response decrement occurred most often when two nearby points were stimulated. Generalization of response increment appeared to spread widely between distant cutaneous points and stimuli of different kinds.7. The response decrement and increment observed in medial pontomedullary reticular neurons displayed most of the parametric features of behavioral habituation and sensitization (8, 33) and therefore appear to represent neural analogs of these latter phenomena. The properties of response decrement suggest that it may occur to a large extent within afferent pathways leading to medial reticular neurons...


2021 ◽  
Vol 11 (2) ◽  
pp. 201-213
Author(s):  
Stanislav V. Ivanov ◽  
Vladimir M. Kenis ◽  
Anna Y. Shchedrina ◽  
Oleg N. Onufriichuk ◽  
Alina M. Khodorovskaya ◽  
...  

BACKGROUND: Congenital malformations of the spine and spinal cord can be combined with various clinical manifestations of the spine, spinal cord, and lower extremities. Children with these neurological disorders often lack sensitivity and motor activity of their lower extremities and, in most cases, have bladder infections and incontinence (lack of bladder and bowel control). AIM: This study aims to analyze publications with the diagnostic and treatment results of patients with neurological, orthopedic, neurological, and ophthalmological problems with spina bifida. MATERIALS AND METHODS: We searched PubMed, Web of Science, Scopus, MEDLINE, eLibrary, and RSCI databases and found about 2000 references and 374 articles. We selected 60 articles for review in orthopedics, neurosurgery, urology, and ophthalmology. RESULTS: Neural tube defects are a wide range of congenital malformations, including skull defects and open or closed spinal dysraphism. The incidence of spine and spinal cord malformations in different countries is quite broad and amounts to 0.3199.4 cases per 10,000 births worldwide. Spinal cord malformations often occur in combination with bladder infections and incontinence, limb deformities, and other central nervous system developmental anomalies. Among the orthopedic problems leading to impaired support function, the most common are foot deformities and hip joint instability. Orthopedic monitoring of a patient with spina bifida consists of mainly preventing or correcting deformities according to the rehabilitation potential of the child. The timely completion of treatment allows the child to maintain mobility and independence of movement daily activities. At the same time, such treatment must pursue realistic goals according to the potential motor level of the child. In addition to neurosurgical and orthopedic problems, most children with spina bifida (88%94%) suffer from pelvic disorders. A urologist should observe a patient with spina bifida to perform ultrasound and laboratory monitoring of both the lower and upper urinary tract conditions from an early age. Timely procedures to eliminate urinary retention and sanitation can maintain normal kidney function and contribute to the adequate conduct of motor and neurological rehabilitation of the child. The most common complication of spina bifida is the Chiari II malformation, which is manifested by damage to brain stem structures and internal occlusal hydrocephalus with various symptoms, including neuroophthalmological signs. CONCLUSIONS: A multidisciplinary team of specialists comprising a neurologist, neurosurgeon, urologist, orthopedic surgeon, ophthalmologist, orthosis specialist, and psychologist should be involved in treating the children with the above presented problems. The use of an integrated approach to treat this group is absolutely justified and enabled the maximum rehabilitation potential of the child to be achieved.


1990 ◽  
Vol 29 (04) ◽  
pp. 282-288 ◽  
Author(s):  
A. van Oosterom

AbstractThis paper introduces some levels at which the computer has been incorporated in the research into the basis of electrocardiography. The emphasis lies on the modeling of the heart as an electrical current generator and of the properties of the body as a volume conductor, both playing a major role in the shaping of the electrocardiographic waveforms recorded at the body surface. It is claimed that the Forward-Problem of electrocardiography is no longer a problem. Several source models of cardiac electrical activity are considered, one of which can be directly interpreted in terms of the underlying electrophysiology (the depolarization sequence of the ventricles). The importance of using tailored rather than textbook geometry in inverse procedures is stressed.


Author(s):  
Shirazu I. ◽  
Theophilus. A. Sackey ◽  
Elvis K. Tiburu ◽  
Mensah Y. B. ◽  
Forson A.

The relationship between body height and body weight has been described by using various terms. Notable among them is the body mass index, body surface area, body shape index and body surface index. In clinical setting the first descriptive parameter is the BMI scale, which provides information about whether an individual body weight is proportionate to the body height. Since the development of BMI, two other body parameters have been developed in an attempt to determine the relationship between body height and weight. These are the body surface area (BSA) and body surface index (BSI). Generally, these body parameters are described as clinical health indicators that described how healthy an individual body response to the other internal organs. The aim of the study is to discuss the use of BSI as a better clinical health indicator for preclinical assessment of body-organ/tissue relationship. Hence organ health condition as against other body composition. In addition the study is `also to determine the best body parameter the best predict other parameters for clinical application. The model parameters are presented as; modeled height and weight; modelled BSI and BSA, BSI and BMI and modeled BSA and BMI. The models are presented as clinical application software for comfortable working process and designed as GUI and CAD for use in clinical application.


2020 ◽  
Vol 99 (4) ◽  
pp. 379-383
Author(s):  
Vasily N. Afonyushkin ◽  
N. A. Donchenko ◽  
Ju. N. Kozlova ◽  
N. A. Davidova ◽  
V. Yu. Koptev ◽  
...  

Pseudomonas aeruginosa is a widely represented species of bacteria possessing of a pathogenic potential. This infectious agent is causing wound infections, fibrotic cystitis, fibrosing pneumonia, bacterial sepsis, etc. The microorganism is highly resistant to antiseptics, disinfectants, immune system responses of the body. The responses of a quorum sense of this kind of bacteria ensure the inclusion of many pathogenicity factors. The analysis of the scientific literature made it possible to formulate four questions concerning the role of biofilms for the adaptation of P. aeruginosa to adverse environmental factors: Is another person appears to be predominantly of a source an etiological agent or the source of P. aeruginosa infection in the environment? Does the formation of biofilms influence on the antibiotic resistance? How the antagonistic activity of microorganisms is realized in biofilm form? What is the main function of biofilms in the functioning of bacteria? A hypothesis has been put forward the effect of biofilms on the increase of antibiotic resistance of bacteria and, in particular, P. aeruginosa to be secondary in charcter. It is more likely a biofilmboth to fulfill the function of storing nutrients and provide topical competition in the face of food scarcity. In connection with the incompatibility of the molecular radii of most antibiotics and pores in biofilm, biofilm is doubtful to be capable of performing a barrier function for protecting against antibiotics. However, with respect to antibodies and immunocompetent cells, the barrier function is beyond doubt. The biofilm is more likely to fulfill the function of storing nutrients and providing topical competition in conditions of scarcity of food resources.


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