Spinal Malformations
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PeerJ ◽  
2021 ◽  
Vol 9 ◽  
pp. e12239
Franciele Fernanda Kerniske ◽  
Jonathan Pena Castro ◽  
Luz Elena De la Ossa-Guerra ◽  
Bruna Angelina Mayer ◽  
Vinícius Abilhoa ◽  

Fish populations that reside in completely isolated freshwater ecosystems are rare worldwide. The Vila Velha State Park (VVSP), located in southern Brazil, is recognized for its arenitic formations called sinkholes (furnas), which are completely isolated. Fish populations within, such as those of Psalidodon aff. fasciatus, often develop vertebral malformations due to this isolation from other conspecifics and other species. In this study, we analyzed geometric morphology in digital radiographs to identify congenital deformations of Psalidodon aff. fasciatus in Furna 2 of VVSP. We found many fish with spinal deformities, including wide variation in the number of caudal vertebrae and corporal deformations related to a flattened body and spinal curvature. Females were more affected than males. We also demonstrated that these deformations reflect inbreeding and an absence of gene flow in the population. In conclusion, isolated populations such as fish species in furnas are potential models for evo-devo research.

2021 ◽  
Vol 19 (1) ◽  
Luciano Furlanetti ◽  
Harutomo Hasegawa ◽  
Natasha Hulse ◽  
Rachael Morris-Jones ◽  
Keyoumars Ashkan

Abstract Background Central itch syndrome has been previously described in conditions such as stroke. The neurophysiology of central itch syndrome has been investigated in non-human primates but remains incompletely understood. Methods We report an observational study of a rare case of severe central itch following thalamic deep brain stimulation and postulate the location of the central itch centre in humans. Results The patient was a 47-year-old female, with congenital spinal malformations, multiple previous corrective spinal surgeries and a 30-year history of refractory neuropathic pain in her back and inferior limbs. Following multidisciplinary pain assessment and recommendation, she was referred for spinal cord stimulation, but the procedure failed technically due to scarring related to her multiple previous spinal surgeries. She was therefore referred to our centre and underwent bilateral deep brain stimulation (DBS) of the ventral posterolateral nucleus of the thalamus for management of her chronic pain. Four weeks after switching on the stimulation, the patient reported significant improvement in her pain but developed a full body progressive itch which was then complicated with a rash. Common causes of skin eczema were ruled out by multiple formal dermatological evaluation. A trial of unilateral “off stimulation” was performed showing improvement of the itchy rash. Standard and normalized brain atlases were used to localize the active stimulating contact within the thalamus at a location we postulate as the central itch centre. Conclusions Precise stereotactic imaging points to the lateral portion of the ventral posterolateral and posteroinferior nuclei of the thalamus as critical in the neurophysiology of itch in humans.

2021 ◽  
Vol 12 ◽  
pp. 455
Jefferson Trivino-Sanchez ◽  
Pedro Henrique Costa Ferreira-Pinto ◽  
Elington Lannes Simões ◽  
Felipe Gonçalves Carvalho ◽  
Diego Rodrigues Menezes ◽  

Background: Spinal dural arteriovenous fistula (SDAVF) is the most frequent vascular malformation of the spine and accounts for approximately 70% of all vascular spinal malformations. In rare cases, SDAVF rupture and subsequent subarachnoid hemorrhage or intramedullary hematoma may occur. The aim of this article is to present a fatal case of SDAVF rupture after a Rathke’s cleft cyst (RCC) endoscopic resection. Case Description: An 80-year-old female was referred to our hospital with a clinical presentation of bilateral reduction in visual acuity, bitemporal hemianopsia, and sellar magnetic resonance imaging (MRI) highly suggestive of RCC. After the first endonasal endoscopic surgery, the cyst was partially removed and vision improved. No signs of cerebrospinal fluid (CSF) leak were observed. After 1 year, the patient returned because of RCC recurrence and decreased visual acuity. In the second procedure, the lesion was totally resected and CSF leak was observed. A nasoseptal flap was rotated to cover the skull base defect. The patient developed subtle paraparesis followed by paraplegia on the 4th postoperative day. The dorsal spine MRI revealed a T3-T4 intramedullary hematoma. A dorsal laminectomy was performed and a SDAVF was observed. During microsurgery, at the right T3 nerve root level, an arteriovenous shunting point was identified, coagulated, and divided. The intramedullary hematoma was evacuated. The patient developed neurogenic and septic shock and died. Conclusion: Venous hypertension, venous wall fragility, and venous thrombosis seem to be the main factors involved in SDAVF rupture. In this particular case, reduction of the extravascular pressure and sudden variation in the pressure gradient caused by sustained CSF leak, also appeared to play an important role in SDAVF rupture. It may represent one more complication related to radical resection of RCC.

In Practice ◽  
2021 ◽  
Vol 43 (3) ◽  
pp. 124-134
Rodrigo Gutierrez‐Quintana ◽  
Steven Decker

Folia Medica ◽  
2021 ◽  
Vol 63 (1) ◽  
pp. 24-29
Georgi Apostolov ◽  
Ivo Kehayov ◽  
Borislav Kitov

Spinal meningiomas are found in all age groups, predominantly in women aged over 50 years. The clinical symptoms of this condition may range from mild to significant neurological deficit, varying widely depending on the location, position in relation to the spinal cord, size and histological type of the tumor. Magnetic resonance imaging is the diagnostic tool of choice because it shows the location, size, the axial position of the tumor, and the presence of concomitant conditions such as spinal malformations, edema or syringomyelia.  According to the degree of malignancy, the World Health Organization divides meningiomas into three grades: grade I - benign; grade II – atypical, and grade III - malignant. The goal of the surgery is total resection which is achievable in 82%–98% of cases. Advances in radiosurgery have led to its increased use as primary or adjunct therapy. The current paper aims to review the fundamental clinical as-pects of spinal meningiomas such as their epidemiology, clinical presentation, histological characteristics, diagnostics, and management.

PLoS ONE ◽  
2021 ◽  
Vol 16 (2) ◽  
pp. e0247489
Rebecca L. Belmonte ◽  
Isabella L. Engbretson ◽  
Jung-Hyun Kim ◽  
Illiana Cajias ◽  
Eun-Young Erin Ahn ◽  

The gene SON is on human chromosome 21 (21q22.11) and is thought to be associated with hematopoietic disorders that accompany Down syndrome. Additionally, SON is an RNA splicing factor that plays a role in the transcription of leukemia-associated genes. Previously, we showed that mutations in SON cause malformations in human and zebrafish spines and brains during early embryonic development. To examine the role of SON in normal hematopoiesis, we reduced expression of the zebrafish homolog of SON in zebrafish at the single-cell developmental stage with specific morpholinos. In addition to the brain and spinal malformations we also observed abnormal blood cell levels upon son knockdown. We then investigated how blood production was altered when levels of son were reduced. Decreased levels of son resulted in lower amounts of red blood cells when visualized with lcr:GFP transgenic fish. There were also reduced thrombocytes seen with cd41:GFP fish, and myeloid cells when mpx:GFP fish were examined. We also observed a significant decrease in the quantity of T cells, visualized with lck:GFP fish. However, when we examined their hematopoietic stem and progenitor cells (HSPCs), we saw no difference in colony-forming capability. These studies indicate that son is essential for the proper differentiation of the innate and adaptive immune system, and further investigation determining the molecular pathways involved during blood development should elucidate important information about vertebrate HSPC generation, proliferation, and differentiation.

2020 ◽  
pp. 014556132097486
Jia-Qi Hu ◽  
Yu-Guo Zhang ◽  
Wei Feng ◽  
Hua Shi

Objective: We present a case with prenatal diagnosis of submucous cleft palate (SMCP) which was described using 2- and 3-dimensional (3D) ultrasonography in utero. Case Report: A 25-year-old pregnant woman was referred to our department for fetal ultrasound screening. After the detection of cardiac and spinal malformations of fetal, further detailed examination detected SMCP, which showed a gap within the hard palate on axial transversal view with the soft palate visible on sagittal view. The imaging of a defective hard palate in prenatal 3D ultrasonography is similar to that in postmortem 3D computed tomography reconstruction. Conclusion: A gap within the hard palate and verification of the visibility of the soft palate should be key points in the prenatal diagnosis of SMCP. Three-dimensional ultrasonic imaging is helpful for displaying the shape and extent of the bony defect in SMCP.

2020 ◽  
Vol 6 (3) ◽  
pp. e414 ◽  
Jared S. Rosenblum ◽  
Anthony J. Cappadona ◽  
Davis P. Argersinger ◽  
Ying Pang ◽  
Herui Wang ◽  

ObjectiveTo investigate the effect of somatic, postzygotic, gain-of-function mutation of Endothelial Per-Arnt-Sim (PAS) domain protein 1 (EPAS1) encoding hypoxia-inducible factor-2α (HIF-2α) on posterior fossa development and spinal dysraphism in EPAS1 gain-of-function syndrome, which consists of multiple paragangliomas, somatostatinoma, and polycythemia.MethodsPatients referred to our institution for evaluation of new, recurrent, and/or metastatic paragangliomas/pheochromocytoma were confirmed for EPAS1 gain-of-function syndrome by identification of the EPAS1 gain-of-function mutation in resected tumors and/or circulating leukocytes. The posterior fossa, its contents, and the spine were evaluated retrospectively on available MRI and CT images of the head and neck performed for tumor staging and restaging. The transgenic mouse model underwent Microfil vascular perfusion and subsequent intact ex vivo 14T MRI and micro-CT as well as gross dissection, histology, and immunohistochemistry to assess the role of EPAS1 in identified malformations.ResultsAll 8 patients with EPAS1 gain-of-function syndrome demonstrated incidental posterior fossa malformations—one Dandy-Walker variant and 7 Chiari malformations without syringomyelia. These findings were not associated with a small posterior fossa; rather, the posterior fossa volume exceeded that of its neural contents. Seven of 8 patients demonstrated spinal dysraphism; 4 of 8 demonstrated abnormal vertebral segmentation. The mouse model similarly demonstrated features of neuraxial dysraphism, including cervical myelomeningocele and spinal dysraphism, and cerebellar tonsil displacement through the foramen magnum. Histology and immunohistochemistry demonstrated incomplete mesenchymal transition in the mutant but not the control mouse.ConclusionsThis study characterized posterior fossa and spinal malformations seen in EPAS1 gain-of-function syndrome and suggests that gain-of-function mutation in HIF-2α results in improper mesenchymal transition.

Jodi L. Smith

The ABNS Oral Examination evaluates an applicant’s knowledge and judgment in clinical neurosurgical practice after an applicant has been an independent practitioner. With the new format, the oral exam is divided into 3 sessions, each consisting of 5 questions. Questions in the first session deal with general neurosurgery, questions in the second session focus on the preidentified area of practice chosen by the applicant (e.g., pediatric neurosurgery), and questions in the third session are based on cases submitted by the applicant. Common pediatric neurosurgical problems treated by neurosurgeons may be included on the American Board of Neurological Surgery Oral Examination in the general neurosurgery session. Therefore, one should be familiar with the neurosurgical management of pediatric cases, including disorders of cerebrospinal fluid dynamics, congenital cranial and spinal malformations, tumors, vascular congenital and acquired disorders, intracranial and spinal infections, and intractable epilepsy. In this chapter, clinical vignettes of common pediatric neurosurgical conditions will be presented including (a) myelomeningocele, (b) craniosynostosis, (c) hydrocephalus, (d) posterior fossa tumors, and (e) moyamoya disease, with the cases subdivided into those that may be seen in the general session (1 to 3) and those more likely to be seen in the subspecialty specific session (4 and 5). The applicant will be given the history, physical examination, pertinent imaging studies, and test results and will then be expected to provide a rational differential diagnosis and plan of management, outline the risks of surgery, and describe the operation, if proposed, and handle intraoperative and postoperative complications that occur.

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