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1.
No Shinkei Geka ; 41(11): 1001-9, 2013 Nov.
Artigo em Japonês | MEDLINE | ID: mdl-24190626

RESUMO

This 4-year-old girl fell while holding plastic chopsticks and a chopstick penetrated her left eye. The chopstick was removed immediately by herself. Conventional CT and MR images showed a penetration track from the orbital roof to the basal ganglia. On susceptibility-and diffusion-weighted images the track and surrounding cytotoxic edema were visualized more clearly. Although antibiotics were started at the time of admission to prevent intracranial infection, she developed meningitis. Subsequent treatment with carbapenem antibiotic-and vancomycin therapy was curative and she was discharged home 4 weeks after the injury. In our review of the literature on intracranial penetrating injuries via the orbita we compared the injury patterns inflicted by and the clinical observations reported on damage induced by wooden-, plastic-, and metal chopsticks. We also evaluated diagnostic CT and MR images in patients with intracranial penetrating injuries caused by chopsticks and documented the advantage of susceptibility-and diffusion-weighted imaging over conventional CT-and MR imaging.


Assuntos
Antibacterianos/uso terapêutico , Corpos Estranhos/patologia , Meningite/tratamento farmacológico , Ferimentos Penetrantes/tratamento farmacológico , Pré-Escolar , Imagem de Difusão por Ressonância Magnética/métodos , Feminino , Corpos Estranhos/diagnóstico , Humanos , Meningite/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Ferimentos Penetrantes/diagnóstico
2.
No Shinkei Geka ; 41(4): 329-35, 2013 Apr.
Artigo em Japonês | MEDLINE | ID: mdl-23542796

RESUMO

Along with epidermoid cysts, dermoid cysts are uncommon, benign and slow-growing lesions. We described a case of diploic dermoid cyst of the occipital bone with an intracranial extension in the right posterior fossa diagnosed and subjected to pathological examination. A 63-year-old man presented with dizziness at the time of posture conversion. Magnetic resonance imaging(MRI)showed a heterogenous hypo-intensity area on T1-weighted image, hyper-intensity on T2-weighted image and remarkably-strong intensity on diffusion-weighted image. Gadolinium enhancement was partially seen in the tumor capsule. Bone density computed tomography (CT) and 3-dimensional CT using helical CT scan revealed the osteolytic range with destruction of the inner and outer table. From these findings, this tumor was diagnosed as diploic epidermoid cyst before surgery. The tumor was totally removed and underwent cranioplasty with a titanium plate. However, pathological examination confirmed dermoid cyst with existence of sebaceous gland in some cyst-walls. It was difficult to diagnose this case as dermoid tumor from radiological features before surgery.


Assuntos
Neoplasias Encefálicas/cirurgia , Cisto Dermoide/cirurgia , Dura-Máter/patologia , Cisto Epidérmico/cirurgia , Crânio/cirurgia , Neoplasias Encefálicas/diagnóstico , Cisto Dermoide/diagnóstico , Cisto Epidérmico/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
3.
Neurosurg Rev ; 36(2): 289-96; discussion 296, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23196422

RESUMO

Time-resolved computed tomography angiography (4D-CTA) using a 320-row area detector CT scanner has recently been applied in the evaluation of cranial vascular disorders. However, application of 4D-CTA to spinal vascular disorder evaluation has never before been described. The authors herein report their initial experience of 4D-CTA in the evaluation of spinal arteriovenous fistulas (AVFs) and compare this novel modality with other imaging modalities. Four consecutive patients with spinal AVF underwent time-resolved contrast-enhanced magnetic resonance angiography (trMRA), 4D-CTA, and selective catheter angiography (CA). In 4D-CTA, volume data was transformed into 3D volume-rendered images and maximum intensity projection. These images were also evaluated by time-resolved serial phases. Then, images of each modality were compared, focusing on the detection of perimedullary draining veins and the prediction of AVF location and drainage flow direction. All modalities successfully detected perimedullary draining veins in all cases. Location of the AVF was detected in all cases by CA. trMRA and 4D-CTA detected the AVF in three out of the four cases. With regard to flow direction, while 4D-CTA successfully depicted ascending or descending drainage flow in the spinal canal, CA failed to detect the flow direction in one case while trMRA failed in two cases. In the case with epidural AVF, 4D-CTA was the only technique to detect the flow direction of perimedullary drainage. Although this is only an initial experience of the application of 4D-CTA to spinal vascular diseases, 4D-CTA was capable of detecting the dynamic vascular flow of spinal AVFs. The authors believe that 4D-CTA can be a useful option in the evaluation of spinal AVFs.


Assuntos
Fístula Arteriovenosa/diagnóstico , Angiografia Cerebral/métodos , Doenças da Coluna Vertebral/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Idoso , Catéteres , Angiografia Cerebral/efeitos adversos , Dura-Máter/patologia , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doses de Radiação , Medula Espinal/irrigação sanguínea , Medula Espinal/patologia , Tomografia Computadorizada por Raios X/efeitos adversos
4.
J Clin Neurosci ; 19(5): 681-6, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22410173

RESUMO

We retrospectively evaluated 12 patients with histologically verified central neurocytoma (CN) to identify the MRI characteristics associated with this tumour. All tumours had heterogeneous signal intensity in their solid components and seven had a "soap bubble" or spongy appearance. Spicules were identified at the tumour periphery interfacing with the lateral ventricular walls. These spicules were formed by walls of multiple cysts of medium size. Undulation of the lateral ventricular wall attached to the tumour capsule was seen in nine patients. These spicules and undulations resulted in a "scalloping" appearance. In a diagnostic experiment to test the differential diagnosis of CN from other neoplasms near the foramen of Monro, the identification of scalloping made a greater contribution to the specificity and accuracy of the diagnosis than the soap bubble appearance. Thus, recognition of multiple cystic interfaces between the solid part of the tumour and the lateral ventricular wall on MRI may contribute to a correct preoperative diagnosis of CN.


Assuntos
Neoplasias do Ventrículo Cerebral/patologia , Ventrículos Cerebrais/patologia , Ventrículos Laterais/patologia , Imageamento por Ressonância Magnética/métodos , Neurocitoma/patologia , Adolescente , Adulto , Neoplasias do Ventrículo Cerebral/classificação , Neoplasias do Ventrículo Cerebral/cirurgia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neurocitoma/classificação , Neurocitoma/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
5.
Neurol Med Chir (Tokyo) ; 51(6): 460-2, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21701114

RESUMO

A 6-month-old female presented with purulent discharge from a dimple in the right lateral buttock. A subcutaneous abscess was palpated on the right paravertebral region at the L5-S1 level. She had low-grade fever with laboratory findings of leukocytosis and elevation of C-reactive protein levels. Klebsiella and Enterococcus species were cultured from the pus. Computed tomography (CT) clearly showed a tract traversing the subcutaneous tissue and connecting to the abscess. Magnetic resonance (MR) imaging showed no abnormality in the spinal canal. The diagnosis was infected congenital dermal sinus (CDS) in the right buttock. After normalization of body temperature and laboratory findings in response to antibiotic treatment, the dermal sinus tract was surgically removed. Intraoperative findings showed that the tract gradually tapered and ended at the subcutaneous abscess space over the lumbosacral fascia. Histological examination confirmed the lesion was dermal sinus. Although laterally placed CDS in the buttocks is extremely rare with only 5 previous cases reported, lateral CDS should be included in the differential diagnosis of a dimple in the buttocks. CT as well as MR imaging should be performed to evaluate suspected lateral CDS.


Assuntos
Nádegas , Dermatopatias/patologia , Espinha Bífida Oculta/cirurgia , Abscesso , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Dermatopatias/cirurgia , Espinha Bífida Oculta/patologia , Resultado do Tratamento
6.
Neurol Med Chir (Tokyo) ; 51(5): 356-60, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21613760

RESUMO

Prevention of postoperative neurological deficits is a major concern of spinal surgeons and has led to the introduction and current development of intraoperative neurophysiological monitoring. We have used motor evoked potentials and somatosensory evoked potentials as routine monitoring techniques and, in some cases, added optional methods such as direct stimulation of nerve roots and spinal evoked potentials. We report our experience of direct nerve root stimulation as an optional monitoring method during spinal surgeries in 7 patients with lesions affecting the proximal nerve roots aged from 1 day to 78 years (mean 23.5 years). Four patients had anomalous lesions, two had spinal nerve root schwannomas, and one had a far-lateral lumbar disc herniation. Direct stimulation was used for detection of motor nerve roots in the anomalous lesions and schwannomas, and to distinguish the nerve root from the paraspinal soft tissues in the case of a far-lateral herniated disc at the L5-S1 level. Although some patients had slight transient neurological symptoms such as motor weakness and sensory disturbance, none developed severe permanent neurological impairment. Direct stimulation allows detection of the motor nerve during spinal surgery in real time. Our limited experience suggests that the direct stimulation technique could reduce the risk of motor or vesicorectal disturbance after surgery of lesions affecting or involving the spinal nerve roots.


Assuntos
Estimulação Elétrica , Monitorização Intraoperatória/métodos , Procedimentos Neurocirúrgicos/métodos , Medula Espinal/cirurgia , Raízes Nervosas Espinhais/cirurgia , Adulto , Idoso , Potenciais Evocados , Humanos , Lactente , Recém-Nascido , Pessoa de Meia-Idade , Complicações Pós-Operatórias/prevenção & controle , Medula Espinal/fisiologia , Raízes Nervosas Espinhais/fisiologia
7.
Neurol Med Chir (Tokyo) ; 51(2): 127-9, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21358156

RESUMO

An 18-year-old man presented with a rare case of a ruptured internal carotid artery (ICA)-persistent primitive anterior choroidal artery (PPAchA) manifesting as sudden onset of headache. Computed tomography (CT) showed subarachnoid hemorrhage. Three-dimensional CT angiography showed a saccular aneurysm at the right ICA-AchA region. Right internal carotid angiography showed a PPAchA and saccular aneurysm. Endovascular treatment of the aneurysm achieved complete aneurysm occlusion.


Assuntos
Dissecação da Artéria Carótida Interna/terapia , Artéria Carótida Interna/anormalidades , Malformações Vasculares do Sistema Nervoso Central/complicações , Embolização Terapêutica/métodos , Aneurisma Intracraniano/terapia , Adolescente , Implante de Prótese Vascular/instrumentação , Implante de Prótese Vascular/métodos , Artéria Carótida Interna/diagnóstico por imagem , Artéria Carótida Interna/patologia , Dissecação da Artéria Carótida Interna/diagnóstico por imagem , Dissecação da Artéria Carótida Interna/patologia , Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Malformações Vasculares do Sistema Nervoso Central/patologia , Angiografia Cerebral/métodos , Embolização Terapêutica/instrumentação , Cefaleia/etiologia , Humanos , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/patologia , Masculino , Hemorragia Subaracnóidea/diagnóstico por imagem , Hemorragia Subaracnóidea/patologia , Hemorragia Subaracnóidea/terapia , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
8.
Neurol Med Chir (Tokyo) ; 51(2): 148-52, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21358162

RESUMO

Two boys aged 8 and 12 years presented with intracranial germinoma manifesting as cerebral hemispheric atrophy, hemiparesis, and decline in academic performance. First magnetic resonance (MR) imaging showed no enhanced lesions, but follow-up MR imaging obtained 12 or 23 months after the first visit showed new mass lesions in the temporal lobe or pituitary gland. Biopsy of these lesions resulted in a histological diagnosis of germinoma. Chemoradiation therapy produced complete remission but both patients continued to manifest mild hemiparesis and impaired cognitive function. Review of 18 previous and our 2 patients presenting with hemispheric atrophy revealed strong male predominance (18:2), mean age of 12.8 ± 5.2 (standard deviation) years, hemiparesis in all patients, and cognitive decline in 9 patients. Initial MR imaging detected mass lesions in only 9 patients, but follow-up MR imaging performed 10-38 months later detected new mass lesions in 5 patients. Radiation with/without chemotherapy provided good tumor control in all patients, but none of the 9 patients with cognitive dysfunction recovered their intellectual ability. We recommend early diagnosis based on biopsy of the atrophic site and timely treatment to improve the quality of life in these patients.


Assuntos
Neoplasias Encefálicas/patologia , Encéfalo/patologia , Germinoma/patologia , Neoplasias Hipofisárias/patologia , Atrofia , Neoplasias Encefálicas/fisiopatologia , Neoplasias Encefálicas/terapia , Criança , Seguimentos , Germinoma/fisiopatologia , Germinoma/terapia , Humanos , Masculino , Neoplasias Hipofisárias/fisiopatologia , Neoplasias Hipofisárias/terapia
9.
J. bras. neurocir ; 22(3): 69-74, 2011.
Artigo em Português | LILACS | ID: lil-608875

RESUMO

Embora a região clinóide seja comumente abordada pelos neurocirurgiões em várias afecções, sua anatomia e extremamente complexa e variável. O segmento clinóide da artéria carótida interna (ACI) se encontra na transição entre o seio cavernoso e o espaço subaracnóide, limitado pelos dois anéis durais. O segmento posteromedial do anel dural distal não tem contato com nenhuma estrutura óssea, esta peculiaridade anatômica facilita a formação do cavo carotídeo. Os anéis proximal e distal tornam-se relevantes por serem os limites anatômicos. O entendimento do segmento clinóide é importante para o correto diagnóstico e abordagem dos aneurismas desta região. Controle proximal, clinoidectomia anterior, opções de clips fenestrados e auxílio do endoscópio são detalhes técnicos de grande utilidade no manejo dos aneurismas do cavo carotídeo.


Assuntos
Artérias Carótidas , Microcirurgia
10.
Hiroshima J Med Sci ; 59(1): 15-6, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20518256

RESUMO

We report cerebral digital subtraction angiography (DSA) using Gadolinium in a patient allergic to iodinated contrast media. A 77-year-old woman was admitted to our hospital for surgical resection of a brain tumor. Although a DSA was requested as a preoperative examination, the patient had a history of allergic reaction to non-ionic iodinated contrast medium. Therefore, DSA was performed using Gadolinium. The DSA showed no tumor stain and normal venous drainage. The patient underwent surgical resection of the tumor and was discharged with no new neurological deficit. DSA using Gadolinium was useful in a patient with an anaphylactic reaction to iodinated contrast media.


Assuntos
Angiografia Digital , Neoplasias Encefálicas/diagnóstico por imagem , Angiografia Cerebral/métodos , Meios de Contraste/efeitos adversos , Gadolínio DTPA , Hipersensibilidade/etiologia , Iodo/efeitos adversos , Idoso , Neoplasias Encefálicas/cirurgia , Feminino , Humanos , Procedimentos Neurocirúrgicos , Cuidados Pré-Operatórios , Resultado do Tratamento
11.
Muscle Nerve ; 41(6): 875-8, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20513106

RESUMO

The purpose of this study was to describe a trigeminal neuropathy caused by the perineural spread of an amyloidoma. A 62-year-old woman had an amyloidoma of the Gasserian ganglion that was hypointense on T2-weighted images; the lesion was enhanced by gadolinium on thin-slice magnetic resonance imaging. There was no evidence of systemic amyloidosis or underlying inflammatory or neoplastic disorders. Her blink reflex and thin-slice magnetic resonance imaging demonstrated that the right trigeminal nerve was involved. A rare trigeminal neuropathy resulted from the perineural spread of a primary amyloidoma that was difficult to detect by conventional magnetic resonance imaging.


Assuntos
Amiloidose/diagnóstico , Piscadela/fisiologia , Gânglio Trigeminal/patologia , Doenças do Nervo Trigêmeo/etiologia , Doenças do Nervo Trigêmeo/patologia , Amiloidose/diagnóstico por imagem , Amiloidose/patologia , Biópsia , Feminino , Humanos , Imageamento por Ressonância Magnética , Divertículo Ileal/diagnóstico , Divertículo Ileal/patologia , Pessoa de Meia-Idade , Radiografia , Doenças do Nervo Trigêmeo/diagnóstico por imagem
12.
J Neurosurg Spine ; 12(3): 243-8, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20192621

RESUMO

OBJECT: The purpose of this study was to evaluate the accuracy of multidetector-row CT angiography (MDCTA) in demonstrating spinal dural arteriovenous fistulas (SDAVFs). METHODS: The authors studied 10 patients with SDAVFs, including 2 with spinal epidural AVFs, who underwent preoperative MR imaging, MDCTA, and digital subtraction angiography (DSA). In the evaluation of coronal sections of multiplanar reformation MDCTA images, inspection was focused on the presence of the following findings: 1) dilated perimedullary veins in the spinal canal; 2) focal enhancement of the nerve root, suggesting the location of the AVF, around the dural sleeve; and 3) a radicular vein that drains the AVF into perimedullary veins. The utility of MDCTA was assessed by comparing its findings with those of DSA in each case. RESULTS: Digital subtraction angiography confirmed that the AVFs were located in the thoracic spine in 4 patients and in the lumbar spine in 6 patients, and MDCTA detected dilated perimedullary veins in all 10 patients. In 8 patients, there was focal enhancement of the nerve root. The radicular vein that drains the AVF into the perimedullary veins was found in 8 cases. In 8 cases, the MDCTA-derived level and side of the AVF and its feeder corresponded with those shown by DSA. In 2 patients, however, the MDCTA-derived side of the feeder was on the side contralateral to the feeding artery confirmed by DSA. These lesions were interpreted as spinal epidural AVFs with perimedullary drainage. In 2 cases, MDCTA could not detect the multiplicity of their feeders. CONCLUSIONS: The use of MDCTA preceding DSA can be helpful to focus the selective catheter angiography on certain spinal levels. However, one should keep in mind that epidural AVFs with perimedullary drainage may resemble SDAVFs and also that MDCTA cannot exclude the possibility of multiple feeders. Further research should elucidate how broadly selective angiography should explore around the MDCTA-suggested target.


Assuntos
Angiografia/métodos , Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Medula Espinal/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Idoso , Angiografia Digital , Malformações Vasculares do Sistema Nervoso Central/patologia , Malformações Vasculares do Sistema Nervoso Central/cirurgia , Feminino , Seguimentos , Humanos , Vértebras Lombares , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Medula Espinal/patologia , Medula Espinal/cirurgia , Vértebras Torácicas
13.
Neurol Med Chir (Tokyo) ; 49(5): 221-4, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19465795

RESUMO

A 13-year-old boy presented with an epidural thoracic granulocytic sarcoma manifesting as rapidly progressive paraplegia preceding clinical manifestation of acute myeloid leukemia (AML). Magnetic resonance imaging revealed a thoracic epidural tumor. He underwent emergent laminectomy and the tumor was totally resected. The initial histological diagnosis was malignant lymphoma. The correct diagnosis of epidural granulocytic sarcoma and AML was established based on cell-surface markers and a chromosomal study of the bone marrow cells. A combination of chemotherapy and bone marrow transfusion achieved complete remission of leukemia. No evidence of AML has emerged over the 18-month follow-up period. Granulocytic sarcoma should be considered in the differential diagnosis of an epidural mass in pediatric patients with or without acute leukemia. Immediate diagnosis and appropriate treatment are recommended to prevent leukemic transformation.


Assuntos
Neoplasias Epidurais/cirurgia , Leucemia Mieloide Aguda/diagnóstico , Sarcoma Mieloide/cirurgia , Neoplasias da Coluna Vertebral/cirurgia , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Transplante de Medula Óssea , Terapia Combinada , Neoplasias Epidurais/diagnóstico , Neoplasias Epidurais/tratamento farmacológico , Exoftalmia/etiologia , Humanos , Laminectomia , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/cirurgia , Imageamento por Ressonância Magnética , Masculino , Metilprednisolona/uso terapêutico , Órbita/patologia , Paraplegia/etiologia , Indução de Remissão , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/tratamento farmacológico , Lobo Temporal/patologia , Vértebras Torácicas/cirurgia
14.
J Neurosurg Spine ; 9(2): 167-74, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18764749

RESUMO

OBJECT: The vertebral artery (VA) often takes a protrusive course posterolaterally over the posterior arch of the atlas. In this study, the authors attempted to quantify this posterolateral protrusion of the VA. METHODS: Three-dimensional CT angiography images obtained for various cranial or cervical diseases in 140 patients were reviewed and evaluated. Seven patients were excluded for various reasons. To quantify the protrusive course of the VA, the diameter of the VA and 4 parameters were measured in images of the C1-VA complex obtained in the remaining 133 patients. The authors also checked for anomalies and anatomical variations. RESULTS: When there was no dominant side, mean distances from the most protrusive part of the VA to the posterior arch of the atlas were 6.73 +/- 2.35 mm (right) and 6.8 +/- 2.15 mm (left). When the left side of the VA was dominant, the distance on the left side (8.46 +/- 2.00 mm) was significantly larger than that of the right side (6.64 +/- 2.0 mm). When compared by age group (< or = 30 years, 31-60 years, and > or = 61 years), there were no significant differences in the extent of the protrusion. When there was no dominant side, the mean distances from the most protrusive part of the VA to the midline were 30.73 +/- 2.51 mm (right side) and 30.79 +/- 2.47 mm (left side). When the left side of the VA was dominant, the distance on the left side (32.68 +/- 2.03 mm) was significantly larger than that on the right side (29.87 +/- 2.53 mm). The distance from the midline to the intersection of the VA and inner cortex of the posterior arch of the atlas was approximately 12 mm, irrespective of the side of VA dominance. The distance from the midline to the intersection of the VA and outer cortex of the posterior arch was approximately 20 mm on both sides. Anatomical variations and anomalies were found as follows: bony bridge formation over the groove for the VA on the posterior arch of C-1 (9.3%), an extracranial origin of the posterior inferior cerebellar artery (8.2%), and a VA passing beneath the posterior arch of the atlas (1.8%). Conclusions There may be significant variation in the location and branches of the VA that may place the vessel at risk during surgical intervention. If concern is noted about the vulnerability of the VA or its branches during surgery, preoperative evaluation by CT angiography should be considered.


Assuntos
Angiografia , Atlas Cervical/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Artéria Vertebral/diagnóstico por imagem , Adulto , Feminino , Humanos , Imageamento Tridimensional , Masculino , Pessoa de Meia-Idade , Artéria Vertebral/anormalidades
15.
Am J Med Genet A ; 146A(11): 1462-5, 2008 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-18449934

RESUMO

Interstitial deletions involving the chromosomal band 15q15 are very rare. A total of five cases were previously reported. Here another case of a 15q15.2-q22.2 deletion is reported, presenting with severe craniosynostosis of coronary, metopic, and sagittal sutures. The chromosome 15 with the 17.7-Mb deletion was of the paternal origin. A critical region for craniosynostosis may be located at the 734-kb segment at 15q15.2. Interestingly, the entire FBN1 gene was deleted in this patient.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 5/genética , Craniossinostoses/genética , Craniossinostoses/etiologia , Feminino , Fibrilina-1 , Fibrilinas , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Proteínas dos Microfilamentos/genética
16.
J Clin Endocrinol Metab ; 93(6): 2390-401, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18381572

RESUMO

CONTEXT: Mutations have been identified in the aryl hydrocarbon receptor-interacting protein (AIP) gene in familial isolated pituitary adenomas (FIPA). It is not clear, however, how this molecular chaperone is involved in tumorigenesis. OBJECTIVE: AIP sequence changes and expression were studied in FIPA and sporadic adenomas. The function of normal and mutated AIP molecules was studied on cell proliferation and protein-protein interaction. Cellular and ultrastructural AIP localization was determined in pituitary cells. PATIENTS: Twenty-six FIPA kindreds and 85 sporadic pituitary adenoma patients were included in the study. RESULTS: Nine families harbored AIP mutations. Overexpression of wild-type AIP in TIG3 and HEK293 human fibroblast and GH3 pituitary cell lines dramatically reduced cell proliferation, whereas mutant AIP lost this ability. All the mutations led to a disruption of the protein-protein interaction between AIP and phosphodiesterase-4A5. In normal pituitary, AIP colocalizes exclusively with GH and prolactin, and it is found in association with the secretory vesicle, as shown by double-immunofluorescence and electron microscopy staining. In sporadic pituitary adenomas, however, AIP is expressed in all tumor types. In addition, whereas AIP is expressed in the secretory vesicle in GH-secreting tumors, similar to normal GH-secreting cells, in lactotroph, corticotroph, and nonfunctioning adenomas, it is localized to the cytoplasm and not in the secretory vesicles. CONCLUSIONS: Our functional evaluation of AIP mutations is consistent with a tumor-suppressor role for AIP and its involvement in familial acromegaly. The abnormal expression and subcellular localization of AIP in sporadic pituitary adenomas indicate deranged regulation of this protein during tumorigenesis.


Assuntos
Adenoma/genética , Neoplasias Hipofisárias/genética , Proteínas/fisiologia , Acromegalia/genética , Acromegalia/metabolismo , Adenoma/metabolismo , Adolescente , Adulto , Idoso , Proliferação de Células , Criança , Nucleotídeo Cíclico Fosfodiesterase do Tipo 4/metabolismo , Feminino , Regulação Neoplásica da Expressão Gênica , Testes Genéticos , Hormônio do Crescimento Humano/metabolismo , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Pessoa de Meia-Idade , Neoplasias Hipofisárias/metabolismo , Ligação Proteica , Proteínas/genética , Proteínas/metabolismo , Transfecção , Células Tumorais Cultivadas
17.
Neurol Med Chir (Tokyo) ; 47(7): 328-30, 2007 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-17652922

RESUMO

A 35-year-old man presented with penetrating spinal injury after attempting suicide by stabbing a wooden chopstick into his mouth. The object penetrated the pharynx, and the tip entered the spinal canal of the atlantoaxial vertebrae. Emergent surgery disclosed that the tip of the chopstick had penetrated between the dural sac and the vertebral artery. There was no dural tear or vertebral artery injury. The foreign body was removed successfully from the oral side. He recovered without neurological sequelae.


Assuntos
Faringe/lesões , Traumatismos da Medula Espinal/cirurgia , Ferimentos Penetrantes/cirurgia , Adulto , Vértebras Cervicais , Utensílios de Alimentação e Culinária , Corpos Estranhos , Humanos , Masculino , Faringe/cirurgia , Automutilação , Traumatismos da Medula Espinal/etiologia , Tentativa de Suicídio , Resultado do Tratamento
18.
Neurosurg Rev ; 30(4): 321-6; discussion 327, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17574485

RESUMO

The role of multi-detector-row computed tomographic angiography (MDCTA) in spinal vascular malformations has not yet been determined. We present a report on a short series of spinal arteriovenous fistulae (AVF) evaluated by MDCTA. With 4-row and 16-row MDCTA, three cases of spinal dural AVF and one case of perimedullary AVF were examined. Each case was also examined by magnetic resonance (MR) imaging and spinal catheter angiography. In two patients with spinal dural AVF, including one patient with angiographically occult AVF, MDCTA successfully located the site of the AVF in a multi-planar reformation image. MDCTA failed to locate the remaining case of spinal dural AVF, probably due to the small amount of shunting blood volume at the fistula. In a patient with perimedullary AVF, MDCTA visualized the broad range of the lesion, including the anterior spinal artery as a single feeder, the fistulous point, and the single perimedullary draining vein. In conclusion, although conventional spinal angiography might be still essential, MDCTA provides useful information for the surgeon in treatment of the spinal dural AVF. Further accumulation of clinical cases is required to determine the potential of MDCTA for perimedullary AVF. MDCTA should be considered as a choice of investigation in the evaluation of spinal AVFs.


Assuntos
Fístula Arteriovenosa/diagnóstico por imagem , Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Angiografia Cerebral , Medula Espinal/irrigação sanguínea , Tomografia Computadorizada por Raios X , Idoso , Fístula Arteriovenosa/cirurgia , Malformações Vasculares do Sistema Nervoso Central/cirurgia , Feminino , Humanos , Vértebras Lombares , Masculino , Pessoa de Meia-Idade , Vértebras Torácicas
19.
Hiroshima J Med Sci ; 56(3-4): 29-32, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18516931

RESUMO

In this study, we investigated the effect of different bypass procedures on postoperative neovascularization in patients with moyamoya disease at Hiroshima University Hospital. Fourteen cerebral hemispheres of seven patients with moyamoya disease were investigated. Five of the 14 hemispheres underwent direct bypass surgery and the remaining 9 underwent indirect bypass. The neovascularization after bypass surgery was evaluated by cerebral angiography. The extent of angiographic neovascularization after direct or indirect bypass surgery was graded as good, fair or poor. Postoperative neovascularization status (good, fair or poor) was compared with the bypass procedure (direct and indirect bypass). Good neovascularization was observed in 8 hemispheres and the remaining 6 had poor neovascularization. Direct bypass surgery was significantly more effective for angiographic neovascularization than the indirect procedure in moyamoya patients (chi2-test, p<0.05). Therefore, we concluded that the direct bypass procedure is a better choice for moyamoya disease as evidenced by angiographic neovascularization.


Assuntos
Angiografia Cerebral , Doença de Moyamoya/cirurgia , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Doença de Moyamoya/fisiopatologia , Neovascularização Fisiológica
20.
J Neurosurg ; 104(6): 884-91, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16776331

RESUMO

OBJECT: The increase in the incidental detection of asymptomatic pituitary adenomas, known as "pituitary incidentalomas," led the authors to conduct a survey of the natural course of these lesions. METHODS: Forty-two patients with clinically nonfunctioning pituitary adenomas who had manifested no neurological or endocrinological disorders were monitored with magnetic resonance imaging studies. The follow-up period ranged from 10.8 to 168.2 months (mean +/- standard deviation, 61.9 +/- 38.2 months). The mean initial tumor size was 18.3 +/- 7 mm. In 21 patients, the tumor increased by at least 10% of its measured size on detection. This increase was first detected between 8.4 and 58.8 months (mean 31.8 +/- 17.6 months) after diagnosis. There was no correlation between the original tumor size, patient age, or the presence of intratumoral cysts and tumor growth. Symptoms were noted in 10 patients during follow up; in four, extensive tumor necrosis accompanied hemorrhage, leading to severe headache, acute ophthalmological symptoms, and panhypopituitarism, which was indicative of pituitary apoplexy. Transsphenoidal surgery was performed in 12 patients with enlarged tumors, including three with apoplexy. With the exception of one apoplectic patient, visual function was recovered in all who underwent surgery. All apoplectic patients continue to manifest hypopituitarism. CONCLUSIONS: In the course of 4 years, the size of the incidentalomas increased in 40% of 42 patients and became symptomatic in 20%. During the 5-year follow up, pituitary apoplexy developed in 9.5%. These findings may justify early intervention, especially in young individuals with incidentally found macroadenoma.


Assuntos
Adenoma/patologia , Apoplexia Hipofisária/epidemiologia , Neoplasias Hipofisárias/patologia , Adenoma/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Hipopituitarismo/epidemiologia , Incidência , Achados Incidentais , Masculino , Pessoa de Meia-Idade , Neoplasias Hipofisárias/cirurgia , Fatores de Risco , Transtornos da Visão/epidemiologia
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