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Background/aim: To present the incidence of recurrent lumbar disc herniation (RLDH) and to identify radiological and patient-related risk factors that lead to recurrence after lumbar disc herniation (LDH) treatment with microdiscectomy. Materials and methods: Between January 2013 and December 2021, 1214 patients who had undergone microdiscectomy for LDH were included in this retrospective study. Patients were divided into two groups, the recurrent group and the non-recurrent group, and their demographic, clinical and radiologic characteristics were recorded. The association between the variables and RLDH was assessed by univariate and multivariable logistic regression analyses. Results: Mean ages were similar in the recurrent (51.48 ± 13.63) and non-recurrent(50.38 ± 14.53) groups (p=0.232). Males represented 59.6% of the recurrent group and 49.8% of the non-recurrent group (p=0.002). Multivariable logistic regression revealed that being a male (p=0.009), diabetes mellitus (p=0.038), smoking (p<0.001), grade 4&5 disc degeneration (p<0.001), and having protruded (p=0.002), extruded LDH (p<0.001), paracentral (p=0.008) and foraminal LDH (p=0.008) were independently associated with recurrence. Conclusion: To reduce RLDH frequency and need for revision surgery, modifiable risk factors should be minimized before and after the initial surgery. Also, in patients with unmodifiable risk factors, patients should be clearly informed about the risk for recurrence and possible alternative treatment methods should be considered.
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Discotomia , Deslocamento do Disco Intervertebral , Vértebras Lombares , Recidiva , Humanos , Deslocamento do Disco Intervertebral/cirurgia , Deslocamento do Disco Intervertebral/epidemiologia , Masculino , Estudos Retrospectivos , Discotomia/efeitos adversos , Feminino , Fatores de Risco , Pessoa de Meia-Idade , Vértebras Lombares/cirurgia , Adulto , Microcirurgia/efeitos adversos , Microcirurgia/estatística & dados numéricos , IdosoRESUMO
INTRODUCTION: Pituitary abscess is a rare lesion of the pituitary gland that can cause morbidity and mortality in the absence of appropriate treatment. They are classified as primary and secondary pituitary abscesses. Primary pituitary abscesses occur in patients with no previous pituitary pathology. Secondary pituitary abscesses are detected in patients with existing pituitary pathologies. CASE PRESENTATION: We report a 16-year-old female patient with primary pituitary abscess who was misdiagnosed initially and treated as meningitis. Following the visual disturbances, pituitary abscess was diagnosed, and she underwent abscess drainage via endoscopic endonasal transsphenoidal surgery and antibiotic treatment. CONCLUSION: Primary pituitary abscess can be clinically confused with other pathologies affecting the central nervous system. In order to avoid permanent sequelae in such patients, it should be kept in mind by physicians in similar cases. Satisfying results are obtained in these patients after appropriate treatment and dramatic improvement is achieved.
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Abscesso Encefálico , Meningite , Doenças da Hipófise , Neoplasias Hipofisárias , Adolescente , Abscesso Encefálico/diagnóstico por imagem , Abscesso Encefálico/cirurgia , Criança , Endoscopia , Feminino , Humanos , Doenças da Hipófise/diagnóstico , Hipófise/diagnóstico por imagemRESUMO
PURPOSE: Of the many suggested techniques, we used dorsal intercostal perforator artery flap (DIPAF) for the closure of myelomeningocele defects. This study compared the outcomes of primary closure and DIPAF in the closure of myelomeningoceles. METHODS: Data of 24 patients that underwent myelomeningocele surgery at a single institution between November 2015 and September 2019 were retrospectively reviewed. RESULTS: The primary closure group had 13 patients (54.17%) and the DIPAF group had 11 (45.83%). The mean age was 7.91 ± 13.27 days (1-60 days). Twelve patients were female and 12 were male. In 22 patients, the myelomeningocele sacs were in the lumbosacral region, while in 2, they were in the thoracolumbar region. The mean defect sizes were 14.20 ± 4.62 cm2 and 18.44 ± 3.49 cm2 in the primary closure and DIPAF groups, respectively. In each group, four patients had a kyphotic deformity. In the primary closure group, three patients had wound necrosis, two had wound dehiscence, and four had cerebrospinal fluid (CSF) leakage. In the DIPAF group, one patient had wound necrosis and one had CSF leakage. Significantly fewer complications related to the operation area were observed in the DIPAF group (p < 0.05). Increased defect size, kyphotic deformity, and presence of hydrocephalus were found to be risk factors for complications related to the operation area. CONCLUSION: This surgical treatment protects neural tissue, prevent CSF leakage, and reduce central nervous system infection rates in myelomeningocele patients. Closure technique with the fasciocutaneous skin flap has more satisfying results than primary closure.
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Meningomielocele , Retalho Perfurante , Procedimentos de Cirurgia Plástica , Adolescente , Adulto , Artérias , Criança , Feminino , Humanos , Masculino , Meningomielocele/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND/AIMS: We aimed to evaluate the course of urinary problems in children with spinal dysraphism. METHODS: This multicenter study evaluated data on pediatric patients diagnosed with spinal dysraphism between 2010 and 2019. The neurological and urological conditions of the patients were examined retrospectively. This study focused on the course of urological problems. Urodynamic examinations including urodynamic bladder capacity, bladder pressure in maximal capacity, compliance, detrusor hyperactivity, uroflowmetry, and residual urine amount were evaluated. All patients underwent urinary system ultrasonography, urinalysis, hemogram and biochemical tests, and urodynamics at admission and follow-ups. RESULTS: A total 62 patients (35 males, 27 females) with a mean age of 7.50 ± 4.01 years and age range of 1-16 years were included in the study. Ultrasonographic evaluation revealed normal results in 32 patients and abnormal findings, including moderate-to-severe calyceal dilatation, parenchymal thinning, and residual urine, in 30 patients. At the time of diagnosis, culture-positive urinary tract infection was detected in 22 patients, and leukocyte and/or bacterial positivity was detected in 18 patients. The differences between bladder capacity, bladder pressure at maximal capacity, compliance, and detrusor hyperactivity at first admission and post-treatment were statistically significant (p < 0.05). Vesicoureteral reflux was also detected in 25 patients. Thirty patients underwent oral anticholinergic and antibiotic prophylaxis, while 17 additionally underwent clean intermittent catheterization. Five patients underwent intravesical Botox injection, clean intermittent catheterization, and medical treatment, and 10 patients underwent augmentation cystoplasty. CONCLUSION: The prevalence of urinary tract problems is high in patients with spinal dysraphism for whom early diagnosis is very important for both urologic and neurosurgical considerations. Early follow-up of urodynamics should be performed, and treatment should be carried out if necessary. Regular follow-up and appropriate treatment have positive effects on the quality of life of these patients and may also prevent the occurrence of severe renal dysfunction.
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Disrafismo Espinal/diagnóstico por imagem , Disrafismo Espinal/epidemiologia , Doenças da Bexiga Urinária/diagnóstico por imagem , Doenças da Bexiga Urinária/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Fatores de TempoRESUMO
INTRODUCTION: Thymic carcinoma metastases of the spinal column are very rare, especially in pediatric patients. To our knowledge, this is the first such pediatric case in the literature. CASE PRESENTATION: We report the case of a 14-year-old male patient with T12 and L1 metastases of thymic carcinoma. He had history of thymectomy and intrathoracic tumor resection 7 months previously. The patient's neurological condition deteriorated; therefore, tumor resection and decompression of the spinal canal were performed. He underwent instrumentation and fusion procedures to prevent spinal instability. CONCLUSION: The main purpose of the treatment is gross total resection of the thymic carcinoma. However, adjuvant methods such as radiotherapy and chemotherapy should be added to the treatment protocol in patients who have higher stage diseases or those in whom total tumor resection cannot be achieved.
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Neoplasias da Coluna Vertebral/secundário , Neoplasias da Coluna Vertebral/cirurgia , Vértebras Torácicas/cirurgia , Timoma/cirurgia , Neoplasias do Timo/cirurgia , Adolescente , Humanos , Masculino , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Vértebras Torácicas/diagnóstico por imagem , Timoma/diagnóstico por imagem , Neoplasias do Timo/diagnóstico por imagemRESUMO
INTRODUCTION: Giant cell tumors of the mobile spinal column are very rare tumors, especially in the pediatric age group. Although they are benign tumors, they have locally aggressive growth pattern and high risk of recurrence. CASE PRESENTATION: We report a 15-year-old female patient with thoracic giant cell tumor who underwent percutaneous vertebroplasty and had cement extravasation into the spinal canal. Because of the deterioration of the patient's neurological condition, total enbloc spondylectomy and cement excision were performed. She underwent instrumentation and fusion procedures in order to prevent spinal instability. CONCLUSION: The main purpose of the treatment is gross total resection of the giant cell tumor. However, adjuvant methods such as denosumab should be added to the treatment protocol in patients who are older than 2 years old and can not undergo gross total resection due to tumor size and anatomic localization.
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Cimentos Ósseos/efeitos adversos , Extravasamento de Materiais Terapêuticos e Diagnósticos/complicações , Tumor de Células Gigantes do Osso/cirurgia , Neoplasias da Coluna Vertebral/cirurgia , Vertebroplastia/efeitos adversos , Adolescente , Descompressão Cirúrgica/métodos , Extravasamento de Materiais Terapêuticos e Diagnósticos/cirurgia , Feminino , Tumor de Células Gigantes do Osso/patologia , Humanos , Fusão Vertebral/métodos , Neoplasias da Coluna Vertebral/patologia , Vértebras TorácicasRESUMO
OBJECTIVE: To evaluate pediatric patients who were operated with the diagnosis of depressed skull fracture. METHODS: The records of pediatric patients who presented with traumatic head injury to multicenter neurosurgery clinics between 2002 and 2018 and who were operated with a diagnosis of depressed skull fracture were retrospectively reviewed. All of the patients underwent primary bone fragment replacement operation, and the patients' own bone flaps were used to repair depressed skull fractures in all of them. RESULTS: A total of 78 patients were included in the study. Of the study group, 20 patients presented with mild head injury, 37 had moderate head injury, and 21 had severe head injury. Dural injury was present in 67 patients (86%) and the dura was intact in 11 patients (14%). After surgery, 63 patients (81%) had good outcome, 8 patients (10%) had moderate disability, and 5 patients (6.5%) had severe disability. Two patients with multiple accompanying cranial pathologies died and the mortality rate was 2.5%. Infection was detected in only 2 of the 78 patients who were treated within the first 72 h after trauma. One of them had meningitis and the other skin infection. Both patients were treated with appropriate antibiotherapy. None of the patients in the study group had an infection involving the bone, such as osteomyelitis, or the tissues under the bone, such as subdural-epidu-ral empyema or abscess. None of the patients required reoperation and removal of the bone. CONCLUSION: In the present study, as the pathologies accompanying the depressed skull fractures of the patients increased, Glasgow Coma Scale scores at arrival and Glasgow Outcome Scale scores at discharge decreased. Regardless of whether the depressed fracture is simple or compound, primary bone fragment replacement with appropriate decontamination of the fractured bone and operation area via single-session intervention gives good results. It is important to perform the surgery as soon as possible to reduce the risk of contamination. Primary bone fragment replacement seems to be an appropriate treatment option for depressed skull fractures.
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Transplante Ósseo/métodos , Fratura do Crânio com Afundamento/diagnóstico por imagem , Fratura do Crânio com Afundamento/cirurgia , Adolescente , Transplante Ósseo/tendências , Criança , Pré-Escolar , Traumatismos Craniocerebrais/diagnóstico por imagem , Traumatismos Craniocerebrais/cirurgia , Feminino , Seguimentos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Tethered cord syndrome (TCS), a neurological disorder characterized by the lower settlement of the conus medullaris, is a congenital spinal disease which is caused by split cord syndrome, meningomyelocele, and spinal tumors. Cranial dermoid tumor (CDT) is a congenital benign tumor which is generally located on the midline of the cranium. Even though TCS is highly associated with spinal dermoid tumor, the relationship of CDT and TCS is unusual. We pre-sent a case with an unusual symptom of CDT, motion-dependent pain, and an uncommon togetherness with TCS.
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Cisto Dermoide/patologia , Cisto Dermoide/cirurgia , Defeitos do Tubo Neural/diagnóstico por imagem , Defeitos do Tubo Neural/cirurgia , Neoplasias da Medula Espinal/cirurgia , Astrocitoma/patologia , Pré-Escolar , Cisto Dermoide/congênito , Cisto Dermoide/diagnóstico por imagem , Cefaleia/etiologia , Humanos , Dor Lombar/etiologia , Imageamento por Ressonância Magnética , Masculino , Defeitos do Tubo Neural/patologia , Crânio , Medula Espinal , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/patologiaRESUMO
Pineal glioblastomas (GBMs) are extremely rare tumors. Herein we will present a pediatric patient with GBM located in pineal region who was admitted with the symptoms of increased intracranial pressure and treated with surgical resection and radiotherapy. Introduction: Pineal region tumors are extremely rare accounting for less than 1% of all brain tumors. The most common type of pineal region tumors is germ cell tumor, followed by pineal parenchymal tumors, gliomas, atypical tumors, and the others. Case Report: A 5-year-old girl was admitted with complaints of headache, dizziness, imbalance in walking, and impaired vision for 1 month. Her neurological examination revealed a tendency to sleep, anisocoric pupillae, mesh eye pupil, dilated lateral gaze paralysis, and left hemiparasia (4/5 muscle strength). In magnetic resonance imaging, a mass was observed in the pineal region that infiltrates the right thalamus and right superior peduncle, isointense and hyperintense in T1 sections, hyperintense in T2 sections, having centrally contrasted areas in post-contrast sections. Due to the presence of evident hydrocephalus, a ventricular shunt was inserted and then through supracerebellar to infratentorial approach the lesion was removed subtotally. The histopathological diagnosis was GBM. GBMs in the pineal region are extremely rare tumors carrying poor prognosis. The patients are generally presented with the signs and symptoms of increased intracranial pressure. GBMs should be kept in mind in differential diagnosis of tumors in the pineal region.
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Behçet's disease is a multisystem inflammatory disease that manifests with oral-genital ulcers, skin lesions, arthritis, and ophthalmologic and neurovascular findings. Neurological involvement of Behçet's disease is called neuro-Behçet's disease, and it is a difficult entity to diagnose because of insufficient symptoms. We present a 26-year-old male patient with complaints of headache, dizziness, and drop foot in the right lower extremity. He underwent gross total tumor resection with the preliminary diagnosis of low-grade glioma, according to the preoperative magnetic resonance imaging. Histopathological examination and further investigation revealed an interesting neuro-Behçet's disease case because of the localization and clinical occurrence of the lesion.
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Síndrome de Behçet , Glioma , Adulto , Síndrome de Behçet/complicações , Síndrome de Behçet/diagnóstico , Glioma/diagnóstico por imagem , Cefaleia , Humanos , Imageamento por Ressonância Magnética , MasculinoRESUMO
BACKGROUND: Treatment options for recurrent glioblastoma (GBM) have limited efficacy. Although reoperation is useful for both the confirmation of the diagnosis of recurring disease and the relief of the symptoms, its effect on survival is unknown. The aim of this study was to evaulate the impact of second surgery in recurrent GBM. METHODS: Patients with GBM followed in our center between January 2015 and April 2018 were analyzed retrospectively based on the treatment options. RESULTS: 25 patients diagnosed with recurrent GBM were analyzed. Ten patients (40%) were treated with chemotherapy following reoperation, and 15 patients (60%) were treated with only chemotherapy. No benefits of reoperation were observed in the univariate analysis. CONCLUSION: The second surgery in recurrent GBM has limited effect in clinical course.
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Bevacizumab/uso terapêutico , Glioblastoma/tratamento farmacológico , Irinotecano/uso terapêutico , Reoperação/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Bevacizumab/farmacologia , Feminino , Glioblastoma/mortalidade , Glioblastoma/patologia , Humanos , Irinotecano/farmacologia , Masculino , Pessoa de Meia-Idade , Análise de Sobrevida , Adulto JovemRESUMO
Factor X deficiency is a rare coagulation defect that can result in several hemorrhagic manifestations including central nervous system hematomas in infants and children. In this case report, we present computed tomography (CT) and magnetic resonance (MR) imaging findings of bilateral chronic subdural hematomas due to factor X deficiency. Cranial CT and MR imaging in a hypoactive 7-month-old male infant with right hemiparesis revealed bilateral chronic subdural hematomas at different stages. Laboratory findings showed a severe factor X deficiency, with a level of 0.7%. After fresh frozen plasma replacement, the patient was operated and the large hematoma on the left side evacuated. The patient recovered uneventfully and remained asymptomatic during the 1-year follow-up.
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Craniotomia , Deficiência do Fator X/complicações , Hematoma Subdural Crônico , Índice de Gravidade de Doença , Hematoma Subdural Crônico/diagnóstico , Hematoma Subdural Crônico/etiologia , Hematoma Subdural Crônico/cirurgia , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios XRESUMO
Root metastases of solid organ carcinomas are rare entities. Because of their rare occurrence, they can be confused with nerve sheath tumors, such as schwannomas or neurofibromas, when detected by magnetic resonance imaging. In this paper, we reported a case of a 72-year-old woman with S1 root metastasis originating from lung adenocarcinoma. In addition, we reviewed the literature and presented the diagnosis and treatment stages of this pathology. Surgical resection should be the main treatment for symptomatic metastases. Gross total resection of tumors is usually not possible with preservation of neurologic functions. Nerve root decompression, subtotal resection, and adjuvant treatments seem to represent the best treatment option for these patients.
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Adenocarcinoma de Pulmão/secundário , Neoplasias Pulmonares/patologia , Neoplasias de Bainha Neural/diagnóstico , Neoplasias do Sistema Nervoso Periférico/secundário , Raízes Nervosas Espinhais/diagnóstico por imagem , Adenocarcinoma de Pulmão/diagnóstico por imagem , Adenocarcinoma de Pulmão/cirurgia , Idoso , Diagnóstico Diferencial , Feminino , Foraminotomia , Humanos , Imageamento por Ressonância Magnética , Metástase Neoplásica , Neoplasias do Sistema Nervoso Periférico/diagnóstico por imagem , Neoplasias do Sistema Nervoso Periférico/cirurgia , SacroRESUMO
Eosinophilic granuloma (EG) is a well-recognized benign form of Langerhans-cell histiocytosis. The estimated incidence of EG is 3-4 per million of the population. More patients are children and adolescents between the ages of 1-15 years. In this report, we present an adult patient. A 37-year-old male was admitted with headache and right parietal swelling that was present for 2 months together with epileptic attacks. Cranial CT scan revealed a right parietal osteolytic lesion with large epidural and subcutaneous mass, causing brain compression. Total removal of the mass was carried out with cranioplasty. Histopathological examination disclosed Langerhans cell histiocytosis and immunohistochemical detection of S-100 antigen. At follow-up, he had no neurological deficits, and control CT was normal. For symptomatic solitary calvarial EG, surgical excision is the main treatment option. Surgical treatment is simple, quick, and allows histological diagnosis of the osteolytic lesions.
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Ventriculoperitoneal shunt systems that are used in the treatment of normal pressure hydrocephalus are often associated with drainage problems. Adjustable shunt systems can prevent or treat these problems, but they may be expensive. The aim of our study is to compare the complications and total cost of several shunt systems.Patients with normal pressure hydrocephalus who underwent ventriculoperitoneal shunting between 2011 and 2016 were included in the study. The study involves patient consent and the informed consent was given. Complications and the average cost per person were compared between patients with adjustable and nonadjustable shunts. Shunt prices, surgical complications, and revision costs were taken into account to calculate the average cost.Of the 110 patients who were evaluated, 80 had a nonadjustable shunt and 30 had an adjustable shunt. In the group with adjustable shunts, the rates of subdural effusion and hematoma were 19.73% and 3.29%, respectively. In the group with nonadjustable shunts, these rates were 22.75% and 13.75%, respectively. One patient in the adjustable group underwent surgery for subdural hematoma, while 8 patients in the nonadjustable group underwent the same surgery. Ten patients required surgical intervention for subdural effusion and existing shunt systems in these patients were replaced by an adjustable shunt system. When these additional costs were factored into the analysis, the difference in cost between the shunt systems was reduced from 600 United States dollars (USD) to 111 USD.When the complications and additional costs that arise during surgical treatment of normal pressure hydrocephalus were considered, the price difference between adjustable and nonadjustable shunt systems was estimated to be much lower.
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Hidrocefalia de Pressão Normal/cirurgia , Complicações Pós-Operatórias , Ajuste de Prótese/métodos , Derivação Ventriculoperitoneal , Adulto , Idoso , Custos e Análise de Custo , Análise de Falha de Equipamento , Feminino , Humanos , Hidrocefalia de Pressão Normal/epidemiologia , Masculino , Pessoa de Meia-Idade , Avaliação de Processos e Resultados em Cuidados de Saúde , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/economia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Reoperação/economia , Reoperação/métodos , Reoperação/estatística & dados numéricos , Turquia/epidemiologia , Derivação Ventriculoperitoneal/efeitos adversos , Derivação Ventriculoperitoneal/classificação , Derivação Ventriculoperitoneal/economia , Derivação Ventriculoperitoneal/métodosRESUMO
Melanotic neoplasm of the central nervous system is rare and the majority of them are metastatic. Melanotic schwannoma (MS) is an unusual variant of nerve sheath neoplasm accounting for less than 1% of primary nerve sheath tumors. A case involving a 36-year-old man with MS at the L5 root is presented. Surgery, differential diagnosis, radiology, histology, and treatment of this rare entity are discussed.
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Neurilemoma/patologia , Neoplasias da Medula Espinal/patologia , Raízes Nervosas Espinhais/patologia , Adulto , Humanos , Laminectomia , Vértebras Lombares , Imageamento por Ressonância Magnética , Masculino , Neurilemoma/diagnóstico por imagem , Neurilemoma/cirurgia , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/cirurgia , Raízes Nervosas Espinhais/diagnóstico por imagem , Raízes Nervosas Espinhais/cirurgia , Resultado do TratamentoRESUMO
BACKGROUND: The purpose of this study is to evaluate if there is a relation between platelet:lymphocyte ratio (PLR) and neutrophil lymphocyte ratio (NLR) values and tumour histology and spread in bladder cancer cases. MATERIALS AND METHODS: Bladder cancer patients undergoing TUR-M operation, with histopathologically verified diagnosis, followed-up and treated at the Private Medical Park Gaziantep Hospital between 2010 and 2015, were included in the study. NLR and PLR values were calculated using complete blood count data obtained at the first presentation. RESULTS: A total of 99 patients were included in the study, 7 (7.1%) women and 92 men (92.9%). When NLR was used as the indicator of systemic inflammatory response (SIR), it was determined that 52 (52.5%) of the patients were SIR negative and 47 (47.5%) SIR positive. No significant relation could be detected between NLR and tumour grade and muscle invasion (p=0.948, p=0.480). When PLR was used as SIR indicator, it was determined that 71 (71.7%) of the patients were found as negative and 28 (28.3%) as positive. No significant relation could be detected between PLR and tumour grade and muscle invasion (p=0.651, p=0.494). CONCLUSIONS: In our study we did not detected a relation between tumour histological behavior and PLR and NLR in bladder cancer. However, NLR and PLR are easily calculated, accessible, inexpensive and simple-to-use laboratory data from whole blood counts.
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Inflamação/patologia , Músculos/patologia , Neoplasias da Bexiga Urinária/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Contagem de Células Sanguíneas/métodos , Plaquetas/patologia , Feminino , Humanos , Contagem de Leucócitos/métodos , Contagem de Linfócitos/métodos , Linfócitos/patologia , Masculino , Pessoa de Meia-Idade , Neutrófilos/patologia , Contagem de Plaquetas/métodos , Prognóstico , Estudos RetrospectivosRESUMO
Cavernous hemangiomas of the orbit are benign vascular growths that commonly occur in adults and account for 6% of all intraorbital tumors. Multifocal intraorbital cavernous hemangiomas are quite rare. The reported incidence of arachnoid cysts accounts for only 1% of lesions that occupy intracranial space, and they are nearly always sporadic and single. So far, the authors have not encountered any study reporting the coexistence of bilateral arachnoid cysts of the middle cranial fossa and orbital multifocal cavernous hemangiomas. In this report, they describe a 10-year-old boy with such a hemangioma that included the eyelid, conjunctiva, and retrobulbar space. His was the first case of a surgically treated pediatric orbital multifocal cavernous hemangioma associated with bilateral arachnoid cysts of the middle cranial fossa. An association between arachnoid cysts, intracranial cavernous malformations, and bilateral arachnoid cysts and metabolic disorders has been reported. The authors report on the coexistence of orbital multifocal cavernous hemangiomas and bilateral arachnoid cysts of the middle cranial fossa. Based on these observations, they believe that all patients with bilateral temporal arachnoid cysts should be screened for genetic disorders. In addition, the possibility of orbital cavernous malformations should be kept in mind for the follow-up period, and patients should be evaluated for possible symptoms of this condition.
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Cistos Aracnóideos/cirurgia , Oftalmopatias/cirurgia , Hemangioma Cavernoso/cirurgia , Cistos Aracnóideos/patologia , Criança , Comorbidade , Exoftalmia/etiologia , Lateralidade Funcional , Hemangioma Cavernoso/patologia , Humanos , Masculino , Órbita/patologiaRESUMO
Dermoid cysts are rare benign congenital tumors comprising 1.1 % of the spinal tumors, with lumbosacral region and cauda equina being the common sites. Many cranial cases with spillage of cyst contents into the subarachnoid space have been reported. We report an extremely unusual case of symptomatic spinal dermoid cyst that ruptured into the syrinx cavity. The gold standard treatment is complete resection of both cyst wall and content in dermoid cysts. However, there is no consensus for the treatment of the syrinx cavity. Observation of similar cases would give us more information about treatment options and the progression of these lesions.
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Cisto Dermoide/patologia , Cisto Dermoide/cirurgia , Ruptura Espontânea/patologia , Neoplasias da Coluna Vertebral/patologia , Neoplasias da Coluna Vertebral/cirurgia , Espaço Subaracnóideo/patologia , Adulto , Cisto Dermoide/diagnóstico , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Neoplasias da Coluna Vertebral/diagnóstico , Resultado do TratamentoRESUMO
BACKGROUND: Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, and cutis aplasia). Although there is clear heterogeneity in clinical presentation, central nervous system malformations, aside from the characteristic encephalocele, have not typically been considered a component of the disease phenotype. METHODS: Four patients originally presented for genetic evaluation of symptomatic structural brain malformations. Whole-genome genotyping, whole-exome sequencing, and confirmatory Sanger sequencing were performed. Using immunohistochemical analysis, we investigated the protein expression pattern of COL18A1 in the mid-fetal and adult human cerebral cortex and then analyzed the spatial and temporal changes in the expression pattern of COL18A1 during human cortical development using the Human Brain Transcriptome database. RESULTS: We identified two novel homozygous deleterious frame-shift mutations in the COL18A1 gene. On further investigation of these patients and their families, we found that many exhibited certain characteristics of Knobloch syndrome, including pronounced ocular defects. Our data strongly support an important role for COL18A1 in brain development, and this report contributes to an enhanced characterization of the brain malformations that can result from deficiencies of collagen XVIII. CONCLUSIONS: This case series highlights the diagnostic power and clinical utility of whole-exome sequencing technology-allowing clinicians and physician scientists to better understand the pathophysiology and presentations of rare diseases. We suggest that patients who are clinically diagnosed with Knobloch syndrome and/or found to have COL18A1 mutations via genetic screening should be investigated for potential structural brain abnormalities even in the absence of an encephalocele.