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ABSTRACT: Three neonates presented with split cord malformation (SCM) associated with myelomeningocele (MMC), complicated with various coexisting anomalies. All patients were female and classified as SCM type I. All patients had a syrinx located rostral to the SCM. One patient had hydrocephalus and Chiari malformation causing serious respiratory problems. Two patients had partial hypertrichosis located close to the MMC, suggesting association with SCM. One patient had sacral hypoplasty and right kidney agenesis, suggesting that some embryologic errors may affect not only neural but also mesodermal development. All patients underwent surgical treatment for SCM after detailed evaluation and management of concomitant anomalies, and developed no new neurological deficits. Delayed surgery is an alternative treatment strategy for SCM in patients with both SCM and MMC with similar complications.
Neurologia medico-chirurgica 01/2010; 50(5):426-30. · 0.61 Impact Factor
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Atsushi Ono,
Hiroshi Kanno,
Akimune Hayashi,
Satoshi Nishimura,
Yoshikazu Kyuma,
Hidemitsu Sato, Susumu Ito,
Nobuyuki Shimizu,
Chia-Cheng Chang,
Gakuji Gondo,
Isao Yamamoto,
Takuma Sasaki,
Motohiro Tanaka
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ABSTRACT: The efficacy of individual chemotherapy based on chemosensitivity has scarcely been studied.
We examined the chemosensitivites for four anticancer agents - 1-(4-amino-2-methyl-5-pyrimidinyl) methyl-3 (2-chloroethyl)-3-nitrosourea hydrochloride (ACNU), carboplatin, cisplatin, and etoposide - of 43 malignant astrocytic tumors (21 anaplastic astrocytomas and 22 glioblastomas) by using a collagen gel matrix assay, and we also determined the survival periods of the tumor-bearing patients. The chemosensitivity was evaluated in terms of the growth inhibition rate, using 3-[4,5-dimethylthiazol-2-yl]-2,5-diphenyl-tetrazolium bromide (MTT) method.
For the anaplastic astrocytomas, the mean growth inhibitory rate was 33.2% with cisplatin, 37.2% with carboplatin, 28.0% with ACNU, and 24.8% with etoposide. For the glioblastomas, these rates were 36.9%, 42.3%, 23.2%, and 34.8%, respectively. The median overall and progression-free survivals of anaplastic astrocytoma-bearing patients who had undergone chemotherapy with two anticancer drugs, both of which showed significant anticancer activity (growth inhibitory rate >30%) were significantly longer than those of the patients who had been treated with two drugs, one or both of which did not show significant anticancer activity. On the other hand, there was no significant difference in the overall or the progression-free survivals in the two corresponding groups of glioblastoma-bearing patients.
The collagen gel matrix assay is clinically useful to determine in vitro chemosensitivity that reflects in vivo chemosensitivity. Individual chemotherapy for malignant astrocytic tumors, based on chemosensitivity data, could contribute to longer survival, particularly in anaplastic astrocytoma-bearing patients.
International Journal of Clinical Oncology 05/2007; 12(2):125-30. · 1.41 Impact Factor
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ABSTRACT: 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.
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.
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 of Neurosurgery 02/2005; 102(1 Suppl):23-30. · 2.96 Impact Factor
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ABSTRACT: Cerebral blood flow (CBF) and cerebrovascular reactivity (CVR) may be reduced in patients with normal pressure hydrocephalus (NPH) after subarachnoid haemorrhage (SAH). However, little is known about brain circulation in asymptomatic patients with ventriculomegaly after SAH. This study investigated CBF and CVR in symptomatic and asymptomatic patients with ventriculomegaly to clarify the mechanism of NPH. CBF and CVR were investigated in 48 patients with ventriculomegaly after SAH due to ruptured aneurysm. Mean CBF of the whole brain was measured by first-pass radionuclide angiography using technetium-99m hexamethylpropylene amine oxime. CVR was measured as the percentage change from the baseline mean CBF value after administration of 500 mg acetazolamide. Thirty patients with NPH who responded to shunting had significantly ( P<0.01) reduced mean CBF and CVR compared with normal controls. Fourteen asymptomatic patients with ventriculomegaly showed significant ( P<0.01) reduction in CVR but no difference in mean CBF. Four symptomatic patients who did not respond to shunting showed significantly ( P<0.01) reduced mean CBF but had preserved CVR. Postoperative mean CBF and CVR increased significantly ( P<0.01) in 21 patients who responded to shunting, but showed no significant change in four symptomatic patients who did not respond to shunting. Reduction of CBF superimposed on pre-existing impairment of CVR may be an essential step in the mechanism responsible for the manifestation of symptoms of NPH.
European journal of nuclear medicine and molecular imaging 01/2003; 30(1):123-6. · 4.99 Impact Factor
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ABSTRACT: The effects of peritumoural oedema on cerebral blood flow (CBF) and cerebrovascular reactivity (CVR) were studied in 18 patients
with alert consciousness. Hemispheric mean CBF was measured by performing first-pass radionuclide angiography using technetium-99m
hexamethylpropylene amine oxime. CVR was measured as the percentage change from the baseline mean CBF value after acetazolamide
administration. Patients were classified into three groups according to the severity of peritumoural oedema. The mean CBF
of both hemispheres in each group was not significantly different from that of age-matched controls. CVR was preserved in
patients with mild peritumoural oedema (n=6), but was significantly (P<0.01) reduced in patients with moderate (n=7) and severe peritumoural oedema (n=5). No significant correlation was found between the degree of midline shift and the mean CVR of both hemispheres (P=0.09). Surgical removal of the tumour significantly (P<0.05) improved the impaired CVR, although the mean CBF did not change. Administration of glucocorticoid improved the impaired
CVR, without a change in the mean CBF, in a patient with a metastatic brain tumour. We conclude that CVR is impaired by the
development of peritumoural oedema prior to changes in mean CBF.
European journal of nuclear medicine and molecular imaging 09/1999; 26(11):1493-1496. · 4.99 Impact Factor
