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1.
Surg Neurol Int ; 15: 161, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38840614

RESUMO

Background: Symptomatic thoracic disc herniation (TDH) is a rare pathology that is addressed with relatively challenging surgical approaches, the choice and technical execution of which have been well described in the literature. Interestingly, long-term outcomes, including surgical site pain-related disability, the need for instrumentation, and commonly occurring complications such as cerebrospinal fluid (CSF)-pleural fistula have not been widely addressed. Here, we address the complication profiles and long-term outcomes of different surgical approaches for TDH. Methods: We conducted a retrospective review of 21 consecutive patients who underwent surgery for TDH between 2000 and 2010. We assessed post-operative complications such as CSF-pleural fistulas, as well as long-term outcomes using Frankel grades, the EQ-5D-3L, and the Visual Analog Scale. We also looked at the need for instrumentation postoperatively. Results: 21 consecutive patients (13 females, 8 males) with a mean age of 55.3 years (Standard deviation 8.1) underwent thoracic discectomy for symptomatic TDH. Surgical approaches included posterolateral thoracotomy (52%, n = 11), costotransversectomy (43%, n = 9), and transpedicular (5%, n = 1). Herniations were classified as soft (38%, n = 8), calcified (38%, n = 8), or calcified-transdural (24%, n = 5). Postoperatively, all patients with calcifiedtransdural herniations undergoing posterolateral thoracotomy (100%, n = 5) developed CSF-pleural fistulas, which resolved spontaneously without the need for surgical re-exploration. 89% (n = 16) of patients exhibited sustained improvement in Frankel scores. Persistent wound site pain was reported by 50% (n = 7) of patients. Conclusion: Despite favorable neurological outcomes, patients with symptomatic TDHs can experience long-term surgical site pain, and therefore, a move toward minimally invasive exposure in such cases should be considered. Postoperative complications such as CSF-pleural fistulas are unlikely to require surgical intervention and thus can be managed conservatively.

2.
Oper Neurosurg (Hagerstown) ; 21(3): 126-130, 2021 08 16.
Artigo em Inglês | MEDLINE | ID: mdl-34114003

RESUMO

BACKGROUND: Computed tomography (CT)-guided percutaneous biopsies are used to guide treatment in vertebral osteomyelitis and spinal malignancy, but the efficacy of this study remains unclear. OBJECTIVE: To investigate the performance of CT-guided spinal biopsy, and factors that may influence its success. METHODS: Retrospective study of all consecutive patients who underwent a CT-guided spine biopsy at a UK teaching hospital between April 2012 and February 2019. Biopsies were performed by 3 consultant neuroradiologists for a lesion suggestive of either malignancy or infection. Data collection included patient factors, biopsy factors, further investigations required, and diagnosis. Data were analyzed using contingency tables, analysis of variance, unpaired t-test, chi-squared test, and Fisher's exact test. RESULTS: A total of 124 percutaneous biopsies were performed on 109 patients with a mean follow-up of 34.5 mo (range 4-86 mo) and a mean age of 66 yr (range 27-93). Approximately 32.3% (n = 40) of the biopsies investigated possible infection, and 67.7% investigated malignancy. The sensitivity for infected cases was 37.0%, and for malignancy 72.7%. The diagnostic accuracy was 57.5% and 78.6%, respectively. Complication rate was 1.6%. In our study, neither needle gauge, anatomic level of the biopsy, or bone quality significantly affected the rate of positive biopsy. CONCLUSION: Both in our study and in the wider literature, CT-guided biopsy has a vastly superior sensitivity for malignancy compared with suspected infection. These procedures may be painful, poorly tolerated, and are not entirely risk free. As such we advocate judicious use of this modality particularly in cases of suspected infection.


Assuntos
Biópsia Guiada por Imagem , Neoplasias , Humanos , Estudos Retrospectivos , Coluna Vertebral , Tomografia Computadorizada por Raios X
3.
Br J Neurosurg ; 33(6): 684-686, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29160114

RESUMO

Brown tumours affecting the cervical spine are a rare but recognised complication of renal failure-related secondary hyperparathyroidism. We present a case of a 26 year-old female with radiculopathy who was managed successfully with 360° cervical spine fixation and parathyroidectomy.


Assuntos
Vértebras Cervicais/cirurgia , Hiperparatireoidismo Secundário/complicações , Osteíte Fibrosa Cística/cirurgia , Neoplasias da Coluna Vertebral/cirurgia , Adulto , Feminino , Humanos , Hiperparatireoidismo Secundário/cirurgia , Osteíte Fibrosa Cística/complicações , Paratireoidectomia/métodos , Radiculopatia/etiologia , Radiculopatia/cirurgia , Neoplasias da Coluna Vertebral/complicações
5.
Br J Neurosurg ; 26(4): 450-5, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22107259

RESUMO

OBJECTIVE: To describe the management of patients with co-existing cervical spondylotic compression and enhancing intramedullary swelling of uncertain aetiology. We describe the key features, suggest a management plan and review the literature. MATERIAL AND METHODS: A short series of six cases with cervical myelopathy and radiological features of spondylotic compression, swollen cervical cord and intramedullary enhancement is described. Detailed descriptions of clinical features, radiological findings, surgical approaches and outcomes are discussed. All patients underwent cervical decompression via an anterior approach, posterior approach or both. Despite initial concerns that the aetiology might be tumour, no biopsy of cervical cord was required in any of the cases. RESULTS: Symptoms improved in four cases whilst contrast enhancement only improved in two cases following decompression. One patient who failed to improve postoperatively was found to have neurosarcoidosis. No patient became worse after the cervical decompression. CONCLUSION: Swelling of the spinal cord with enhancement and co-existing spondylotic cord compression, in the first instance, should be treated by decompression only. Biopsy to diagnose intrinsic tumour or inflammatory conditions should not be performed unless there is radiological or clinical progression despite adequate decompression.


Assuntos
Descompressão Cirúrgica/métodos , Edema/cirurgia , Doenças da Medula Espinal/cirurgia , Medula Espinal/patologia , Espondilose/cirurgia , Adulto , Biópsia , Diagnóstico Diferencial , Edema/etiologia , Edema/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Compressão da Medula Espinal/etiologia , Compressão da Medula Espinal/patologia , Compressão da Medula Espinal/cirurgia , Doenças da Medula Espinal/etiologia , Doenças da Medula Espinal/patologia , Neoplasias da Medula Espinal/patologia , Espondilose/complicações , Espondilose/patologia , Resultado do Tratamento
6.
Br J Neurosurg ; 25(4): 527-9, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20854060

RESUMO

Chordomas constitute <5% of vertebral column tumours and a third of these arise in the upper cervical spine and tend to be clival - usually midline, with occasional eccentric extension. We report a case of cervical chordoma presenting as a lateral neck mass and discuss its origin, diagnosis and management.


Assuntos
Cordoma/cirurgia , Neoplasias de Cabeça e Pescoço/cirurgia , Neoplasias da Coluna Vertebral/cirurgia , Adulto , Vértebras Cervicais , Cordoma/diagnóstico , Diagnóstico Diferencial , Detecção Precoce de Câncer , Neoplasias de Cabeça e Pescoço/diagnóstico , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Neoplasias da Coluna Vertebral/diagnóstico
7.
Br J Oral Maxillofac Surg ; 49(1): 73-5, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20226577

RESUMO

We report an interesting case of a large, rapidly developing cutaneous horn in the temple area of an 86-year-old man who was admitted to a hospital in London. The lesion had been caused by a squamous cell carcinoma. We highlight the historical and pathophysiological aspects of the condition and draw attention to the malignant potential of such lesions.


Assuntos
Carcinoma de Células Escamosas/diagnóstico , Dermatoses Faciais/diagnóstico , Neoplasias Faciais/diagnóstico , Ceratose/diagnóstico , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Humanos , Ceratoacantoma/diagnóstico , Masculino
8.
Acta Neurochir (Wien) ; 152(3): 485-8, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19479187

RESUMO

We present the first case of primary benign fibrous meningioma restricted to the sacrum with no sign of recurrence after a long follow-up duration. This occurred in a 36-year-old man who initially presented with a 3-month history of right-sided sciatica. The tumour was successfully resected after three surgical procedures due to its high vascularity and technical difficulties. Sacroiliac joint stability was not disrupted, and he is still doing well clinically at 8 years follow-up.


Assuntos
Espaço Epidural/patologia , Neoplasias Meníngeas/patologia , Meningioma/patologia , Sacro/patologia , Canal Medular/patologia , Neoplasias da Coluna Vertebral/patologia , Adulto , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/metabolismo , Descompressão Cirúrgica , Espaço Epidural/diagnóstico por imagem , Espaço Epidural/cirurgia , Humanos , Complicações Intraoperatórias/etiologia , Complicações Intraoperatórias/prevenção & controle , Laminectomia , Imageamento por Ressonância Magnética , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/cirurgia , Meningioma/diagnóstico por imagem , Meningioma/cirurgia , Procedimentos Neurocirúrgicos , Polirradiculopatia/etiologia , Hemorragia Pós-Operatória/etiologia , Hemorragia Pós-Operatória/prevenção & controle , Sacro/diagnóstico por imagem , Sacro/cirurgia , Ciática/etiologia , Canal Medular/diagnóstico por imagem , Canal Medular/cirurgia , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/cirurgia , Raízes Nervosas Espinhais/patologia , Tomografia Computadorizada por Raios X , Resultado do Tratamento
9.
Spine (Phila Pa 1976) ; 34(19): E712-5, 2009 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-19730205

RESUMO

STUDY DESIGN: Case Report. OBJECTIVE: To share our experience about the unique histological appearances of a calcified intradural, extramedullary lesion involving a nerve root. SUMMARY OF BACKGROUND DATA: A 53-year-old man presented with a long history of low back pain and a few months of occasional left groin pain with no neurological deficit. Imaging of the spine revealed a calcified intradural extramedullary lesion at L1, separate from vertebrae. Intraoperatively, the lesion was found to involve closely one of the roots and was heavily calcified but relatively easy to excise. The histology revealed calcifying fibroblastic proliferation associated with a nerve root. This is an unusual pathological entity, which appears distinct from the rare but occasionally reported reactive process known, as heterotopic bone formation in a nerve or "neuritis ossificans," and it is important to distinguish it from other calcified intradural neoplasms. METHODS: The histology of an excised calcified intradural extramedullary lesion was initially reviewed by our local neuropathologist. A second opinion was requested from Prof. Malcolm, who is a histopathologist and bone specialist. The unique histological features of the lesion were confirmed. The literature (no date limitations) was reviewed. RESULTS: A calcified intradural extramedullary lesion, closely related to nerve root was found to have unique histological features, not reported in the literature so far. CONCLUSION: The histological features of the calcified lesion that we report here have not been described before. It is highly likely they represent a reactive process. We think these features are useful to be added to the differential diagnosis of a calcified intradural extramedullary lesion involving a nerve root.


Assuntos
Calcinose/patologia , Proliferação de Células , Fibroblastos/patologia , Neoplasias de Bainha Neural/diagnóstico , Radiculopatia/patologia , Neoplasias da Medula Espinal/diagnóstico , Biópsia , Calcinose/complicações , Calcinose/cirurgia , Diagnóstico Diferencial , Humanos , Dor Lombar/etiologia , Dor Lombar/patologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Radiculopatia/complicações , Radiculopatia/cirurgia , Resultado do Tratamento
10.
Spine J ; 9(5): e14-8, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19059809

RESUMO

BACKGROUND AND CONTEXT: Mature teratomas are extremely rare spinal tumors, and in the cervical spine presentation in an adult it is even more infrequent. To the best of our knowledge, only five previous intramedullary teratomas in an adult cervical spine have been reported. PURPOSE: Here, we present another case of a cervical intramedullary mature teratoma in an adult and review the literature. STUDY DESIGN AND SETTING: Case report and review of the literature. PATIENT SAMPLE: Thirty-four-year old man with initial symptoms of numbness of his left fingers, and later brachialgia of the whole arm. The diagnosis from initial manifestation of symptoms was relatively long (11 years). METHOD: Case review and Medline/Internet search using key word adult, teratoma, cervical spine, and intramedullary. RESULT: Case report presented. Only five cases of intramedullary cervical teratoma were found in the world literature. CONCLUSION: Cervical intramedullary teratomas in adults are rare entities. The indolent nature of the condition often leads to late presentation. Surgery can result in good outcome and complete cure. This is, to our knowledge, only the sixth case of cervical teratoma in an adult.


Assuntos
Neoplasias da Medula Espinal/patologia , Neoplasias da Medula Espinal/fisiopatologia , Teratoma/patologia , Teratoma/fisiopatologia , Adulto , Vértebras Cervicais/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Procedimentos Neurocirúrgicos , Neoplasias da Medula Espinal/cirurgia , Teratoma/cirurgia
12.
Neurosurgery ; 61(3): E659-60; discussion E660, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17881943

RESUMO

OBJECTIVE: Widespread fibrotic obliteration of the spinal subarachnoid space after cerebral aneurysmal subarachnoid hemorrhage (SAH) is rare. CLINICAL PRESENTATION: A 57-year-old woman presented with the gradual development of a spastic paraparesis. Two years earlier, she experienced a cerebral aneurysmal SAH that was successfully managed with endovascular coiling. However, the SAH was complicated by transient aseptic meningitis and hydrocephalus. Magnetic resonance imaging and computed tomographic myelography at the time of admission 2 years after SAH revealed widespread cystic obliteration of the thoracic subarachnoid space. INTERVENTION: Through an extensive laminoplasty, multiple non-communicating fibrotic cysts, intimately adherent to the pia, were found to have obliterated the spinal subarachnoid space. A full communication between all cysts and the subarachnoid space was ultimately established using a Fogarty catheter. The cerebrospinal fluid was clear and colorless, with normal microscopy. Histopathological examination revealed non-specific fibrosis with scattered lymphocytes and uniform hemosiderosis. CONCLUSION: In addition to precipitating leptomeningeal fibrosis within the convexity subarachnoid space and/or arachnoid granulations (causing delayed hydrocephalus), cerebral aneurysmal SAH may also rarely elicit widespread symptomatic fibrotic obliteration of the spinal subarachnoid space. Such cases seem to be characterized by a posterior circulation, Fisher Grade 3 to 4, aneurysmal SAH, and, when circumscribed and cystic, seem amenable to surgical decompression.


Assuntos
Aneurisma Intracraniano/diagnóstico por imagem , Hemorragia Subaracnóidea/diagnóstico por imagem , Espaço Subaracnóideo/diagnóstico por imagem , Feminino , Fibrose , Humanos , Aneurisma Intracraniano/complicações , Pessoa de Meia-Idade , Radiografia , Hemorragia Subaracnóidea/complicações , Fatores de Tempo
13.
Spine J ; 7(3): 374-9, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17482125

RESUMO

BACKGROUND CONTEXT: Most spinal arteriovenous malformations (AVMs) are dural arteriovenous fistulas in which a singularly intradural venous drainage emanates from an extradural nidus. A pure extradural spinal arteriovenous malformation (E-AVM), in the absence of a vertebral body (cavernous) hemangioma, is extremely rare, and full clinical, radiological, and operative descriptions are scant. PURPOSE: To fully document the rare occurrence of a symptomatic E-AVM producing spinal claudication. STUDY DESIGN: Case report. PATIENT SAMPLE: One patient. OUTCOME MEASURES: Radiological and functional. METHODS: This 62-year-old man presented with 6-month progressive spinal claudication, leg weakness, and diminished sensation. Electromyography revealed bilateral acute and chronic partial degeneration of L3-S1 nerve roots. Magnetic resonance imaging revealed moderate canal stenosis between L2-L4, with prominent epidural veins on the left at L3-L4. Spinal angiography was unsuccessful, and computed tomographic myelography merely confirmed minimal lumbosacral root filling. At decompressive L2-L4 laminectomy, inadvertent hemorrhage from varicose epidural veins released arterialized blood under considerable pressure. Only minor clinical improvement was noted after this procedure. Spinal angiography 6 weeks later subsequently confirmed an E-AVM on the left at L3-L4 which was successfully embolized. RESULTS: Follow-up at 8 weeks after this procedure confirmed significantly increased walking distance, improved distal sensation, and normal power in both legs, with insignificant claudication. CONCLUSIONS: When associated with canal stenosis, E-AVMs may exacerbate claudication by both compressive and venous-hypertensive mechanisms. Treatment should be by embolization, with laminectomy deferred.


Assuntos
Malformações Arteriovenosas/cirurgia , Malformações Vasculares do Sistema Nervoso Central/cirurgia , Vértebras Lombares/irrigação sanguínea , Angiografia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade
16.
J Neurosurg Spine ; 4(3): 260-4, 2006 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-16572628

RESUMO

Benign fibrous histiocytoma (BFH) is a rare skeletal tumor, accounting for approximately 1% of all surgically managed benign bone tumors. Spinal location is very rare, and its management can be challenging, involving excision of tumor and spinal reconstruction and stabilization. The prognosis is good after treatment. The authors present the case of BFH involving the thoracic spine and a review of the literature concerning BFH of the spine.


Assuntos
Histiocitoma Fibroso Benigno/patologia , Histiocitoma Fibroso Benigno/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Neoplasias da Coluna Vertebral/patologia , Neoplasias da Coluna Vertebral/cirurgia , Adulto , Dor nas Costas/etiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Procedimentos Neurocirúrgicos/métodos , Prognóstico , Compressão da Medula Espinal/etiologia
17.
J Neurosurg ; 103(4): 752-5, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16266060

RESUMO

Obstructive hydrocephalus complicating foramen magnum decompression (FMD) for a Chiari malformation (CM) Type I is rare. Two female patients (17 and 55 years old) presented with strain-related headaches. In both cases magnetic resonance (MR) imaging studies confirmed a CM Type I, which was accompanied by syringomyelia in one case. Both patients underwent uncomplicated FMD with good initial recovery. Unfortunately, conditions in both patients deteriorated, with severe headaches occurring between Days 5 and 6 post-FMD. Decreased consciousness occurred in one case. In both patients, computerized tomography scanning demonstrated an acute obstructive hydrocephalus associated with bilateral infratentorial extraaxial fluid collections (EAFCs). In addition, left parafalcine and convexity EAFCs were present in one case. An emergency external ventricular drain was required in one patient, with delayed conversion to a ventriculo-peritoneal shunt. Spontaneous resolution occurred in the other patient without neurosurgical intervention. In both cases, MR imaging confirmed that each EAFC was subdural, resembled cerebrospinal fluid (CSF), and had distorted the superior cerebellum anteroinferiorly. Despite upper fourth ventricle/aqueduct compromise in one case, normal aqueduct flow artifacts were apparent on examination. All EAFCs resolved spontaneously. Obstructive hydrocephalus complicating FMD is rare but invariably associated with infratentorial EAFCs, which were confirmed to be subdural hygromas in this report. The authors assert that hydrocephalus results from upper fourth ventricle/aqueduct compromise as a result of CSF subdural dissection following a pinhole arachnoid tear on durotomy. Because such hygromas spontaneously resolve, permanent shunt insertion should be avoided.


Assuntos
Malformação de Arnold-Chiari/cirurgia , Hidrocefalia/etiologia , Derrame Subdural/complicações , Doença Aguda , Adolescente , Descompressão Cirúrgica/efeitos adversos , Feminino , Cefaleia/etiologia , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade
18.
Neurosurgery ; 57(4): E818, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17152672

RESUMO

OBJECTIVE AND IMPORTANCE: Extradural cysts intimately associated with relatively normal lumbar discs have rarely been reported. Histologically nonspecific, most have been designated posterior longitudinal ligament (PLL) or annulus fibrosus (AF) "ganglion cysts." Recently, "disc cysts" have been distinguished as a separate entity, mostly on the grounds of cyst-disc communication. CLINICAL PRESENTATION: Three young male patients presented with unilateral sciatica. In all cases, magnetic resonance imaging demonstrated rounded, cystic lesions (i.e., hypointense on T1- but hyperintense on T2-weighted scans) adjacent to minimally dehydrated, nonherniated disc spaces. INTERVENTION: At surgery, each cyst was found intimately related to either the AF (Case 3) or the PLL (Cases 1 and 2) of the adjacent disc; and direct disc-space communication was evident in Case 3. After cystectomy, with or without discectomy, all patients achieved complete and long-lasting resolution of their sciatic symptoms. Histological appearances were typical of ganglion cysts in all three cases, with evidence of prior hemorrhage in Cases 1 and 3. CONCLUSION: Our results and those of others suggest that all such cysts are ganglion cysts that derive from either the AF or the PLL at the disc level. Although disc cysts might be AF ganglion cysts exhibiting disc communication, their separate distinction is probably unnecessary. Cystectomy alone affords complete symptomatic remission; discectomy is usually unnecessary. Although anticipated with ganglia in general, neither spontaneous resolution nor postoperative recurrences have been witnessed. Unlike ganglia in general or juxtafacet ganglion cysts, such cysts seem to be unusually restricted to young men.


Assuntos
Cistos/diagnóstico , Cistos/cirurgia , Cistos Glanglionares/diagnóstico , Cistos Glanglionares/cirurgia , Disco Intervertebral/cirurgia , Ligamentos Longitudinais/cirurgia , Adulto , Cistos/complicações , Diagnóstico Diferencial , Cistos Glanglionares/complicações , Humanos , Vértebras Lombares , Masculino , Ciática/etiologia , Ciática/cirurgia
19.
Neuroradiology ; 46(12): 984-7, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15570418

RESUMO

A unique case is presented of a decrease in density on CT scans of a colloid cyst of the third ventricle with time. This occurred in the absence of any operative intervention in a 35-year-old woman.


Assuntos
Encefalopatias/diagnóstico por imagem , Cistos/diagnóstico por imagem , Terceiro Ventrículo/diagnóstico por imagem , Adulto , Encefalopatias/cirurgia , Cistos/cirurgia , Feminino , Humanos , Radiografia , Terceiro Ventrículo/cirurgia
20.
Orv Hetil ; 145(39): 1979-84, 2004 Sep 26.
Artigo em Húngaro | MEDLINE | ID: mdl-15553908

RESUMO

Iron overload causes impaired function of tissues and organs due to the increased iron storage in them. Hereditary hemochromatosis is the most frequent hereditary metabolic disorder, with lethal outcome without treatment. The genetic disorder is a mutation on the short arm of the 6. chromosome, which resulted a cysteine-tyrosine substitution on the 282. amino acid position (C282Y). This mutation is less frequent in the non-Caucasian population, in opposition to the other reported mutation (H63D). The risk of the development of the disease is the highest in people who are C282Y homozygotes or C282Y/H63D compound heterozygotes. The prevalence of hemochromatosis is 1.5-5.9 per thousand. Liver disease/cirrhosis, diabetes mellitus and hyperpigmentation are the classic signs of the disease. Primer hepatocellular cancer occurs in 30% of patients with liver cirrhosis, that it is the most common cause of death among them. The diagnosis is based on the detection of iron overload (transferrin saturation, serum ferritin level, iron concentration of the liver tissue) and on the genetic examinations. Early diagnosis makes the causal therapy possible, which is the removal of the iron excess by phlebotomy. Furthermore, the early detection of iron overload allows of prevention of the development of the disease. Based in these facts population screening seems to be necessary and cost-effective, but further studies are required to determine the exact screening strategy.


Assuntos
Sobrecarga de Ferro , Ácido Aspártico , Carcinoma Hepatocelular/etiologia , Cromossomos Humanos Par 6 , Cisteína , Diabetes Mellitus/etiologia , Diagnóstico Diferencial , Hemocromatose/complicações , Hemocromatose/diagnóstico , Hemocromatose/epidemiologia , Hemocromatose/genética , Hemocromatose/metabolismo , Hemocromatose/terapia , Histidina , Humanos , Hiperpigmentação/etiologia , Sobrecarga de Ferro/complicações , Sobrecarga de Ferro/diagnóstico , Sobrecarga de Ferro/epidemiologia , Sobrecarga de Ferro/genética , Sobrecarga de Ferro/metabolismo , Sobrecarga de Ferro/terapia , Cirrose Hepática/etiologia , Neoplasias Hepáticas/etiologia , Programas de Rastreamento , Flebotomia , Mutação Puntual , Vigilância da População , Prevalência , Prognóstico , Tirosina
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