Abstract:
OBJECT:Greig cephalopolysyndactyly syndrome (GCPS) is one of a spectrum of overlapping clinical syndromes resulting from mutations in the gene GLI3 on chromosome 7p. Cerebral cavernous malformation (CCM) is caused by mutations in three distinct genes, including Malcavernin (CCM2), which also maps to chromosome 7p and is located 2.8 Mbp from GLI3. The authors describe a new syndrome that combines the vascular lesions characteristic of CCM with the hallmarks of GCPS, including polydactyly, hypertelorism, and developmental delay. METHODS:The authors used high-resolution array-based comparative genome hybridization (CGH) analysis to characterize the 3 million-bp deletion on chromosome 7 that accounts for this novel clinical presentation. A 4-year-old girl presented with polydactyly, hypertelorism, and developmental delay and was also found to have multiple CCMs after suffering a seizure. RESULTS. Genetic analysis using array-based CGH revealed a deletion affecting multiple genes in the 7p14-13 locus, the interval that includes both CCM2 and GLI3. Quantitative real-time polymerase chain reaction (RT-PCR) on genomic DNA confirmed this genomic lesion. CONCLUSIONS:A novel syndrome, combining features of CCM and GCPS, can be added to the group of entities that result from deleterious genetic variants involving GLI3, including GCPS, acrocallosal syndrome, Pallister-Hall syndrome, and contiguous gene syndrome. The deletion responsible for this new entity can be easily detected using either array-based chromosomal analysis or quantitative RT-PCR.
journal_name
J Neurosurgjournal_title
Journal of neurosurgeryauthors
Bilguvar K,Bydon M,Bayrakli F,Ercan-Sencicek AG,Bayri Y,Mason C,DiLuna ML,Seashore M,Bronen R,Lifton RP,State M,Gunel Mdoi
10.3171/PED-07/12/495subject
Has Abstractpub_date
2007-12-01 00:00:00pages
495-9issue
6 Suppleissn
0022-3085issn
1933-0693journal_volume
107pub_type
杂志文章abstract::The successful use of autogenous skull bone grafts for a C3-7 anterior cervical fusion is reported and compared with results using other bone grafts. A 51-year-old man with C4-7 anterior cord compression due to spurs and ossified posterior longitudinal ligaments developed progressive tetraparesis following a minor hea...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1992.76.2.0298
更新日期:1992-02-01 00:00:00
abstract::The theory of immune surveillance postulates that one function of the immune system is to eliminate small numbers of malignant cells that arise spontaneously within the organism. Although there has been a great deal of both clinical and experimental evidence in favor of thistheory as it applies to general oncology, th...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1978.49.1.0084
更新日期:1978-07-01 00:00:00
abstract:OBJECT:Due to the complex and variable nature of brachial plexus injury, outcome analysis can be cumbersome and imprecise. Many scales have been devised, but no single scale is used uniformly. Moreover, despite several studies in which the authors have reported brachial plexus surgical data, no highly predictive clinic...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/ped.2007.106.4.276
更新日期:2007-04-01 00:00:00
abstract::W. James Gardner, a skillful neurosurgeon and inventor, is best remembered for his cervical tongs and hydrodynamic theory of syringomyelia. A pioneer of modern neurosurgery, Gardner trained under Charles Frazier in Philadelphia, and in 1929 he moved to Ohio where he became chief of neurosurgery at the Cleveland Clinic...
journal_title:Journal of neurosurgery
pub_type: 传,历史文章,杂志文章
doi:10.3171/jns.2004.100.5.0965
更新日期:2004-05-01 00:00:00
abstract:OBJECTIVE:Surgical revascularization is known to reduce the incidence of further ischemic and hemorrhagic events in patients with moyamoya disease, but the majority of previous studies report only short-term (< 5 years) outcomes. Therefore, in this study the authors aimed to evaluate late (5-20 years) outcomes of moyam...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/2019.12.JNS192938
更新日期:2020-03-13 00:00:00
abstract::A patient is reported with a purely pial arteriovenous malformation (AVM) supplied from the posterior parietal artery. The prominent middle meningeal artery contributed to opacification of the angular branches distal to the AVM, but did not contribute to the AVM. After total removal of the AVM, the angular branches be...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1979.50.4.0522
更新日期:1979-04-01 00:00:00
abstract:OBJECT:The application accuracy of the Neuromate neurosurgical robot has been validated in vitro but has not been evaluated in vivo for deep brain stimulation (DBS) electrode implantations. The authors conducted a study to evaluate this application accuracy in routine frame-based DBS procedures, with an independent sys...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/2014.9.JNS14256
更新日期:2015-01-01 00:00:00
abstract::Giant paraclinoidal carotid artery aneurysms frequently require temporary interruption of local circulation to facilitate safe occlusion. Due to brisk retrograde flow through the ophthalmic artery and cavernous branches, simple trapping of the aneurysm by cervical internal carotid artery clamping and intracranial dist...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1990.73.2.0305
更新日期:1990-08-01 00:00:00
abstract::One major risk of intraoperative stimulation mapping is the production of stimulation-evoked seizures. Cold Ringer's lactate solution was applied directly to the irritated cortex in 22 patients with stimulation-induced seizures that occurred during intraoperative brain mapping procedures. The irrigation rapidly and re...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1998.88.2.0349
更新日期:1998-02-01 00:00:00
abstract::Vertebral artery dissection may be spontaneous or related to some traumatic event. Diagnosis has usually been made by angiography, an invasive procedure with certain well-known risks. The authors describe the magnetic resonance (MR) appearance (both on conventional spin-echo and on gradient refocused "flow" sequences)...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1990.72.6.0964
更新日期:1990-06-01 00:00:00
abstract::Cranial and spinal trauma resulted in disseminated intravascular coagulation (DIC) in a 78-year-old man, causing widespread bleeding and incoagulable blood. Traumatized brain tissue was found in the lumina of dural venous sinuses. The mechanisms of DIC are reviewed. It is suggested that intravascular release of potent...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1980.52.2.0266
更新日期:1980-02-01 00:00:00
abstract::The lateral extracavitary approach to the spine was used for resection of displaced bpne and disc located anterior to the dura in 62 patients with traumatic lesions of the thoracic and lumbar spine. Fifty-two patients had closed vertebral fractures and 10 had gunshot wounds. The spinal cord was involved in 44 patients...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1976.45.6.0628
更新日期:1976-12-01 00:00:00
abstract:OBJECT:Iliac crest bone graft harvesting can result in major complications, the rates of which range from approximately 6 to 8%. The objective of this study was to evaluate the postoperative regeneration of iliac crest donor defects in an animal model after harvesting a full-thickness tricortical graft. METHODS:In ske...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/spi.2002.97.4.0456
更新日期:2002-11-01 00:00:00
abstract:OBJECT:The objective of the present study was to perform a prospective evaluation of the potential efficacy and safety of intraoperative photodynamic therapy (PDT) using talaporfin sodium and irradiation using a 664-nm semiconductor laser in patients with primary malignant parenchymal brain tumors. METHODS:In 27 patie...
journal_title:Journal of neurosurgery
pub_type: 杂志文章,多中心研究
doi:10.3171/2013.7.JNS13415
更新日期:2013-10-01 00:00:00
abstract:OBJECT:The treatment of solitary vestibular schwannomas by performing Gamma Knife surgery is well established. It has been reported that decreasing the surface dose reduces patient morbidity, especially facial weakness and numbness. The authors of this retrospective study examine patient data from a single center to de...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/sup.2006.105.7.154
更新日期:2006-12-01 00:00:00
abstract::Chondrolipoangioma is a mesenchymoma primarily composed of cartilage, with adipose tissue and vascular elements present in lesser proportions. Chondrolipoangiomas have been reported to occur in the extremities, chest wall, oral soft tissues, mediastinum, uterus and its round ligament, seminal vesicles, and heart. In t...
journal_title:Journal of neurosurgery
pub_type: 杂志文章,评审
doi:10.3171/jns.2002.97.5.1226
更新日期:2002-11-01 00:00:00
abstract::Two patients with fusiform aneurysms and at least one previous subarachnoid hemorrhage were treated by excision of the aneurysms and reconstruction of the arteries. The first case presented with two fusiform aneurysms, the larger of which involved the angular and the smaller one the temporal branch of the left middle ...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1978.49.2.0272
更新日期:1978-08-01 00:00:00
abstract::A patient with a subcutaneous sacrococcygeal ependymoma and metastasis to the inguinal lymph nodes is presented and his treatment is described. Previous reports on sacrococcygeal ependymoma are reviewed. ...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1988.68.3.0474
更新日期:1988-03-01 00:00:00
abstract::A modification of a Cloward lateral cervical retractor with sharp blades is described. The purpose of the adaptation is to help prevent injuries to soft tissues of the neck and to facilitate placement during anterior cervical discectomy and fusion. ...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1984.61.1.0193
更新日期:1984-07-01 00:00:00
abstract::Coccidioidomycosis is an infection originating in the San Joaquim Valley of southern California, but now seen with increasing frequency throughout southern California and the southwestern United States. Central nervous system involvement is usually manifested as meningitis. The authors present the case of a young man ...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1994.80.1.0140
更新日期:1994-01-01 00:00:00
abstract:OBJECT:Knowing the rate of rupture associated with unruptured cerebral aneurysms (UCAs) can help surgeons determine a case management strategy in patients harboring these lesions. According to large-scale cohort studies involving populations in North America and Europe, small unruptured aneurysms carry a very low risk ...
journal_title:Journal of neurosurgery
pub_type: 杂志文章,评审
doi:10.3171/jns.2005.102.4.0601
更新日期:2005-04-01 00:00:00
abstract:OBJECT:Surgical or endovascular occlusion of the parent artery proximal to an aneurysm has been recommended for treatment of dissecting aneurysms of the intracranial posterior circulation. However, dissecting aneurysms may rupture even after proximal occlusion because distal progression of thrombus is necessary to occl...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1999.90.5.0853
更新日期:1999-05-01 00:00:00
abstract::The acquired immune deficiency syndrome (AIDS) is a recently described T-cell deficiency predisposing patients to a spectrum of opportunistic infections. Kaposi's sarcoma, and other neoplasms. It appears primarily among homosexual males and intravenous drug abusers, but is now being observed in other groups as well. T...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1983.59.6.0994
更新日期:1983-12-01 00:00:00
abstract::A model of transient hindbrain ischemia in Mongolian gerbils is described. The vertebrobasilar junction of gerbils was exposed by a transcervical approach through the space between the atlas and occipital bone. The origin of the basilar artery was occluded by a clip, and the local cerebral blood flow (CBF) was measure...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1984.60.5.1054
更新日期:1984-05-01 00:00:00
abstract::The authors report a case of ossification of the ligamentum flavum at T-10 and T-11 associated with compressive myelopathy. Metrizamide myelography with computerized tomography allowed precise preoperative diagnosis and anatomic localization of the lesion. The patient had satisfactory and prompt improvement after surg...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1982.56.3.0448
更新日期:1982-03-01 00:00:00
abstract:OBJECT:The aim of this study was to identify patients likely to develop CSF leaks after vestibular schwannoma surgery using a retrospective analysis for the identification of risk factors. METHODS:Between January 2001 and December 2006, 420 patients underwent retrosigmoidal microsurgical tumor removal in a standardize...
journal_title:Journal of neurosurgery
pub_type: 杂志文章,评审
doi:10.3171/2009.2.JNS081380
更新日期:2009-10-01 00:00:00
abstract::The authors describe an indwelling intraluminal shunt for carotid endarterectomy. The device is equipped with balloons at both ends to prevent bleeding and to hold the tube in place. The design permits use of a small tube which facilitates insertion, and prevents intimal damage and limitation of exposure of arterial p...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1984.60.4.0861
更新日期:1984-04-01 00:00:00
abstract::Juvenile active ossifying fibroma is a rare lesion seldom seen by neurosurgeons. It originates in the paranasal sinuses during childhood, grows slowly, and encroaches on adjacent orbital and cranial compartments. In the past 3 years, four patients with this lesion were seen (three men and one woman; mean age 28 years)...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1997.86.2.0279
更新日期:1997-02-01 00:00:00
abstract:OBJECT:In this paper, the authors' goal was to compare the artifact induced by implanted (in vivo) adjustable shunt valves in spin echo, diffusion weighted (DW), and gradient echo MR imaging pulse sequences. METHODS:The MR images obtained in 8 patients with proGAV and 6 patients with Strata II adjustable shunt valves ...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/2009.9.JNS09171
更新日期:2010-07-01 00:00:00
abstract:OBJECT:Although the gray matter of the spinal cord has been thought to be softer than the white matter, there is no evidence to support this belief. Because the spinal cord is extremely soft, it has been difficult to measure the mechanical properties of the gray and white matter. The modulis of elasticity of the gray a...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/spi.2001.95.2.0221
更新日期:2001-10-01 00:00:00