Abstract:
OBJECT:The goal of this study was to elucidate the genotype-phenotype relationship in syndromic craniosynostoses by analyzing the mutations of the fibroblast growth factor receptor (FGFR) gene and its clinical manifestations in patients, particularly those in atypical cases. METHODS:Twenty patients with craniosynostoses unrelated to Apert syndrome were enrolled in this study. The phenotypes indicated the following syndromes: 12 patients with unrelated Crouzon syndrome, including nine sporadic and three familial cases; two with sporadic Pfeiffer syndrome; and one with Antley-Bixler syndrome. The Crouzon phenotype was subdivided into three clinical forms: regular, top, and bottom ones. Two patients who demonstrated craniofacial anomalies and bilateral elbow joint contractures were categorized as having an unspecified craniosynostosis. Three cases of unclassifiable cloverleaf skull malformation were also analyzed. Fourteen mutations of the FGFR2 gene were identified in these patients; seven of the 10 cysteine-related mutations were substitutions of codon 342 in the third immunoglobulin-like domain of this gene. The phenotypes of these seven cases were three of regular Crouzon, two of unspecified craniosynostosis, and one each of top Crouzon and unclassifiable cloverleaf skull malformation. In addition, four of the seven patients were found to have the same genotype (Cys342Arg). The phenotypes of these patients, however, were quite variable, ranging from regular Crouzon to unclassifiable cloverleaf skull malformation. CONCLUSIONS:The phenotypes of patients with craniosynostoses unrelated to Apert syndrome proved quite variable, even in cases in which patients demonstrated the same genotype. In view of the phenotypic diversity evident in cases in which the same mutation in the FGFR2 gene is present, it is possible that other disease-modifying genetic factors exist to control the abnormal gain-of-function that accompanies FGFR signaling.
journal_name
J Neurosurgjournal_title
Journal of neurosurgeryauthors
Ito S,Sekido K,Kanno H,Sato H,Tanaka M,Yamaguchi K,Yamamoto Idoi
10.3171/ped.2005.102.1.0023subject
Has Abstractpub_date
2005-01-01 00:00:00pages
23-30issue
1 Suppleissn
0022-3085issn
1933-0693journal_volume
102pub_type
杂志文章abstract:OBJECT:Intraoperative stimulation mapping of subcortical white matter tracts during the resection of gliomas has become a valuable surgical adjunct that is used to reduce morbidity associated with tumor removal. The purpose of this retrospective analysis was to assess the morbidity and functional outcome associated wit...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.2004.100.3.0369
更新日期:2004-03-01 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:Convection-enhanced delivery (CED) can be used safely to perfuse regions of the central nervous system (CNS) with therapeutic agents in a manner that bypasses the blood-brain barrier (BBB). These features make CED a potentially ideal method for the distribution of potent chemotherapeutic agents with certain phar...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.2003.99.5.0893
更新日期:2003-11-01 00:00:00
abstract::Big data has transformed into a trend phrase in healthcare and neurosurgery, becoming a pervasive and inescapable phrase in everyday life. The upsurge in big data applications is a direct consequence of the drastic boom in information technology as well as the growing number of internet-connected devices called the In...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/2020.5.JNS201288
更新日期:2020-10-02 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:OBJECT:The aims of this study were to determine the following: whether there are sex differences in intracerebral hemorrhage (ICH) induced brain injury in rats, whether delayed administration of 17beta-estradiol can reduce ICH-induced brain damage, and whether these effects are estrogen receptor (ER)-dependent. METHOD...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.2005.103.1.0097
更新日期:2005-07-01 00:00:00
abstract::The complete avulsion of the brachial plexus is a severe injury usually caused by high-energy trauma. Even with the advent of modern microsurgical techniques, many patients have been rendered severely handicapped following this injury. The authors present a new reconstructive procedure that uses a microsurgical reinne...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1996.85.1.0174
更新日期:1996-07-01 00:00:00
abstract::The expanding use of intrathecal baclofen for spasticity has raised a concern about the treatment of overdose in these patients, since no specific baclofen antagonist is available. Since physostigmine has been reported to reverse the respiratory depression and somnolence due to opiates, the drug was tried for the trea...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1989.71.2.0273
更新日期:1989-08-01 00:00:00
abstract::The authors report a case of myxochondrosarcoma of the fourth ventricle. The tumor was heavily calcified and proved impossible to remove at surgery. Histological examination revealed areas of loose fibroblastic tissue, hyaline cartilage, osteoid, and bone. It is postulated that the tumor arose from the stroma of the c...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1976.44.3.0386
更新日期:1976-03-01 00:00:00
abstract::Increasing evidence suggests that disturbances in the modulatory influence of the vasoactive peptide, calcitonin gene-related peptide (CGRP), contribute to the pathogenesis of cerebral vasospasm after subarachnoid hemorrhage (SAH). However, only limited success has been achieved in trials attempting to ameliorate vaso...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1995.82.1.0091
更新日期:1995-01-01 00:00:00
abstract:OBJECT:The optimal approach for the surgical treatment of craniopharyngiomas is still debated. In all cases involving the sella turcica, the authors have exclusively used transsphenoidal surgery (TSS), assuming that this approach is less traumatic than an intracranial one. Moreover, TSS was also performed in some cases...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.2004.100.3.0445
更新日期:2004-03-01 00:00:00
abstract::OBJECTIVE Chronic neuropathic pain after peripheral nerve injury is a major clinical problem. Its management is difficult, and therapeutic approaches vary and include oral medication, neurostimulation, and surgery. The aim of this study was to assess the adequacy of surgical nerve revision in a large series of patient...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/2017.1.JNS161778
更新日期:2018-04-01 00:00:00
abstract::Adults and children with low-grade gliomas often present with medically refractory epilepsy. Currently, controversy exists regarding the need for intraoperative electrocorticography (ECoG) to identify and, separately, resect seizure foci versus tumor removal alone to yield maximum seizure control in this patient popul...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1993.79.1.0062
更新日期:1993-07-01 00:00:00
abstract::Lumbar cerebrospinal fluid (CSF) pressure and ventricular size were determined in six patients with impairment of cerebral venous outflow caused by either sagittal sinus thrombosis or arteriovenous shunting into the sagittal sinus. None of the patients had enlargement of the ventricular system, but all six had elevate...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1980.53.5.0656
更新日期:1980-11-01 00:00:00
abstract::A new method was developed for the clinical assessment of motor function in rats after experimental spinal cord injury. The method consists of placing the animal on an inclined plane which can be adjusted to provide a slope of varying grade, and then assessing the maximum angle of the plane at which the animal can mai...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1977.47.4.0577
更新日期:1977-10-01 00:00:00
abstract:OBJECT:The authors sought to establish whether the volume of the posterior fossa in children suffering from Chiari malformation Type I (CM-I) is smaller than normal, as has been suggested previously. They also investigated the role of syringomyelia in posterior fossa development. METHODS:Both posterior fossa volume (P...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/ped.2006.105.2.101
更新日期:2006-08-01 00:00:00
abstract:OBJECTIVE:Vision loss remains a debilitating complication of pituitary adenomas, although there is considerable variability in visual impairment before and after decompression surgery. Growing evidence suggests secondary damage to remote visual structures may contribute to vision loss in patients with chiasmatic compre...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/2019.7.JNS191712
更新日期:2019-10-18 00:00:00
abstract:OBJECT:The goal of this study was to determine the tensile strength of cranial pia mater. METHODS:Samples of isolated bovine cranial pia mater were subjected to quasistatic traction to evaluate its tensile strength. The experimental curves of physiological deformation that were obtained can be subdivided into three pa...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.2004.100.1.0111
更新日期:2004-01-01 00:00:00
abstract::Although posterior plates are increasingly used to manage cervical spinal instability, long-term follow-up evaluation of patients with a critical analysis of efficacy and complications has not been reported. The authors have retrospectively analyzed the outcome in 44 consecutive patients (37 males and seven females, a...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1994.81.3.0341
更新日期:1994-09-01 00:00:00
abstract::Overexpression of vascular endothelial growth factor (VEGF) is associated with several central nervous system (CNS) diseases and abnormalities, and is often postulated as a causative factor and promising therapeutic target in these settings. The authors' goal was to reassess the contribution of VEGF to the biology and...
journal_title:Journal of neurosurgery
pub_type: 杂志文章,评审
doi:10.3171/jns.2005.103.5.0853
更新日期:2005-11-01 00:00:00
abstract::In patients with pineal tumors, clinical symptoms are due to direct compression of adjacent structures. The most common signs include increased intracranial pressure (80%) caused by obstruction of the sylvian aqueduct, and Parinaud syndrome (50%) caused by direct compression of the superior colliculi. Hearing loss is ...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.2003.99.3.0587
更新日期:2003-09-01 00:00:00
abstract::The application of several recent advances in cell biology, brain implantation, and cell-mediated tumor immunotherapy requires successful and reproducible placement of viable cell suspensions into brain. Stereotaxic implantation is being used to inject cytotoxic lymphocytes into gliomas and to replace dopaminergic cel...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1988.69.2.0228
更新日期:1988-08-01 00:00:00
abstract:OBJECT:This prospective study is based on a consecutive series of 20 patients with pineal region tumors who underwent minimally invasive preferential management. The purpose of this report is to discuss the role of neuroendoscopic procedures in the management of pineal region tumors. METHODS:If the tumor markers alpha...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.2000.93.2.0245
更新日期:2000-08-01 00:00:00
abstract::The President of the American Association of Neurological Surgeons (AANS) reviews the formative history of the major neurosurgical societies, together with their agreement to consolidate their efforts in the joint AANS. As a united group, the Association has been effective in carrying out relations with other professi...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1979.51.4.0429
更新日期:1979-10-01 00:00:00
abstract:OBJECTIVE:In daily practice, neurosurgeons face increasing numbers of patients using aspirin (acetylsalicylic acid, ASA). While many of these patients discontinue ASA 7-10 days prior to elective intracranial surgery, there are limited data to support whether or not perioperative ASA use heightens the risk of hemorrhagi...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/2018.12.JNS182483
更新日期:2019-04-05 00:00:00
abstract::Eradication of malignant brain tumors by in situ intratumoral, retrovirally mediated transfer of the herpes simplex virus thymidine kinase (HSVtk) gene, which sensitizes the tumor cells to ganciclovir, has recently been demonstrated in animal models. The observation that tumors studied in vitro and in animals can be c...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1994.81.2.0256
更新日期:1994-08-01 00:00:00
abstract::The effect of intravenous nimodipine on the incidence of mortality and delayed ischemic neurological deficits of patients after aneurysmal subarachnoid hemorrhage (SAH) and surgery was studied in a prospective double-blind placebo-controlled trial. Upon admission, all of the patients were in Grades I to III according ...
journal_title:Journal of neurosurgery
pub_type: 临床试验,杂志文章
doi:10.3171/jns.1988.69.5.0683
更新日期:1988-11-01 00:00:00
abstract::Rhombencephalosynapsis (RS) is a relatively rare developmental disorder of the cerebellum in which the cerebellar hemispheres are fused across the midline without being separated by a cleft or the vermis. The condition may be associated with hydrocephalus and other intracranial and extracranial abnormalities. The auth...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.2000.93.2.0323
更新日期:2000-08-01 00:00:00
abstract:OBJECT:Sedation regimens for head-injured patients are quite variable. The short-acting sedative-anesthetic agent propofol is being increasingly used in such patients, yet little is known regarding its safety and efficacy. In this multicenter double-blind trial, a titratable infusion of 2% propofol accompanied by low-d...
journal_title:Journal of neurosurgery
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.3171/jns.1999.90.6.1042
更新日期:1999-06-01 00:00:00
abstract::Consecutive paraffin sections of 105 astrocytomas and 15 oligoastrocytomas were examined for expression of p53, MIB-1 (Ki-67), and proliferating cell nuclear antigen (PCNA). The tumors had been examined previously for genetic abnormalities and by flow cytometry. Regardless of the tumor's stage and grade and the patien...
journal_title:Journal of neurosurgery
pub_type: 杂志文章
doi:10.3171/jns.1997.86.1.0121
更新日期:1997-01-01 00:00:00