ABSTRACT
OBJECTIVES: Pseudotumor cerebri syndrome (PTC) is a chronic disorder, which is initially treated by conservative measures, yet surgery is inevitable in case of progressive worsening of vision or headache despite medical treatment. The surgical management is controversial including CSF diversion procedures and optic decompression. The purpose of this study was to evaluate the efficacy of different surgeries in PTC and to present surgical outcomes in a single center. METHODS: This retrospective study included the patients with PTC who were operated by endoscopic optic nerve decompression (EOND), ventriculoperitoneal (VP) and lumboperitoneal (LP) shunting. Surgical outcomes, i.e. visual acuity, visual field, papilledema and headache were compared according to type of surgery. Surgical complications were noted. RESULTS: Seventeen of 36 patients were treated with shunting, 14 with EOND and 5 patients with both EOND and shunting. No statistical significance was observed between CSF diversion procedures and EOND concerning clinical outcomes. The improvement rate of papilledema was higher with VPS (p = 0574) while more patients benefitted from LPS regarding visual field and acuity (p = 0471 and p = 0718, respectively). The best treatment response for headache was in shunt implemented patients (VPS and LPS) with a rate of 88.2% followed by EOND (78.6%) and both surgeries (60%)(p = 0.294). Gender and BMI were significant predictors of improved papilledema (p = 0.034). CONCLUSIONS: Our study demonstrated comparable results between shunting and EOND, regarding the efficacy on surgical outcomes. EOND is quite effective for headache besides its advantage on treatment-refractory visual loss. Shunting may offer sustained relief of symptoms when compared with EOND.
Subject(s)
Papilledema , Pseudotumor Cerebri , Humans , Pseudotumor Cerebri/surgery , Pseudotumor Cerebri/complications , Papilledema/surgery , Papilledema/complications , Retrospective Studies , Lipopolysaccharides , Optic Nerve/surgery , Treatment Outcome , Decompression, Surgical/methods , Headache/surgery , Headache/complicationsABSTRACT
BACKGROUND: Medical education requires the implementation of different teaching methods and strategies for future doctors to achieve broad learning objectives. This wide range of methods and strategies includes the use of Information Technologies. For a long time, there was a call for a change in medical education for blending new teaching approaches to lessen medical students' class time. The COVID-19 pandemic then sped up the transition to the new way of medical education and classroom lectures were quickly moved to a virtual environment. We expect that these changes will continue, and online learning will be one of the main teaching strategies in medical education. Therefore, educational experiences during the COVID-19 pandemic will improve our understanding of online learning and will help to develop blended medical school curricula in the future. For this reason, we aimed to determine students' overall satisfaction with their online learning experience and to define the main factors affecting students' satisfaction with their online learning program at Cerrahpasa Medical Faculty. METHODS: A cross-sectional survey study was conducted to determine medical students' overall satisfaction with online learning methods and to identify factors associated with positive and negative satisfaction levels. A questionnaire, consisting of 24 questions to collect demographic characteristics, factors associated with online education experience and overall satisfaction levels was developed and distributed to 1600 medical students. Multivariable linear regression analysis was used to determine the factors associated with positive and negative satisfaction levels. RESULTS: Regression analysis showed that being familiar with online teaching techniques (ß = 0.19, 95% CI [0.07, 0.30], faculty members' higher online teaching skill levels (ß = 0.42, 95% CI [0.32, 0.51], interactive online teaching approaches (ß = 0.54, 95% CI [0.41, 0.67], having a personal workspace (ß = 0.43, 95% CI [0.19, 0.67], and a self-reported longer attention span (ß = 0.75, 95% CI [0.57, 0.92] were associated with higher overall satisfaction with online learning. The occurrence of technical problems (ß = -0.19, 95% CI [-0.26, -0.12] was associated with lower overall satisfaction. CONCLUSIONS: Higher online teaching skills of faculty members, use of interactive approaches, students' familiarity with online teaching techniques, provision of a personal workspace, and self-reported longer attention spans positively contributed to higher levels of student satisfaction with online learning. Considering the increasing significance of online educational methods, our study identified key components that affect students' level of satisfaction. This information might contribute to the development of online educational programs in the future.
Subject(s)
COVID-19 , Education, Distance , Students, Medical , Humans , Education, Distance/methods , Pandemics , Cross-Sectional Studies , Personal Satisfaction , Surveys and Questionnaires , COVID-19/epidemiology , Regression AnalysisABSTRACT
BACKGROUND: The aim of this study was to assess the effectiveness of a new quantitative index for the diagnosis of idiopathic normal pressure hydrocephalus. METHODS: This retrospective study was conducted at Istanbul University Cerrahpasa Medical Faculty between January 2016 and November 2022. A total of 31 patients diagnosed with idiopathic normal pressure hydrocephalus were included in the study group and 48 patients were included in the control group. Measurement via the new Index was performed on a coronal section of magnetic resonance imaging at the level of the anterior commissure. RESULTS: The new Index's mean diagnostic performance was 1.16 ± 0.08 in the study group, significantly lower (p < 0.0001) than the mean of 1.43 ± 0.10 in the control group. When a cutoff value of 1.23 was used for the new index, the sensitivity, specificity, positive predictive value, negative predictive value, and accuracy rates were 96.1%, 90.7%, 80.6%, 98%, and 91.3%, respectively. DISCUSSION: The new Index described here is an effective, feasible, reproducible, highly sensitive, and specific quantitative method that can contribute to the improved diagnosis of patients with idiopathic normal pressure hydrocephalus.
Subject(s)
Hydrocephalus, Normal Pressure , Humans , Hydrocephalus, Normal Pressure/diagnostic imaging , Retrospective Studies , Subarachnoid Space/pathology , Magnetic Resonance Imaging/methods , Brain/pathologyABSTRACT
Smith-McCort dysplasia 2 (SMC2) is a rare spondylo-epiphyseal-metaphyseal dysplasia caused by biallelic RAB33B variants. Short trunk dwarfism and radiological findings including the lacy ilia appearance and double bumps of the vertebral bodies are typical features. To date, only eight patients with SMC2 had been reported. The aim of this study is to evaluate the follow-up findings of seven patients from five families with SMC2 and to present four novel variants in RAB33B. The age of diagnosis of the patients was between 4 and 18 years. All patients had variable degrees of short trunk dwarfism with barrel chest, waddling gait, hyperlordosis, genu valgum, elbow and finger joint stiffness, which became more evident with growth. Lacy iliac crest, short ilia with basilar hypoplasia, platyspondyly, dysplastic acetabulum with small and/or laterally displaced femoral heads, and small, irregular carpal bones were detected on skeletal radiographies of all patients. Typical double hump appearance of vertebral bodies was present in patients under 12 years of age, which disappeared after puberty and development of elongated vertebral bodies was also observed. At the time of diagnosis, six patients were able to walk independently; patients who were followed for five to nine years, developed severe hip pain, hip and knee joints stiffness and difficultly of walking after 10 years of age. Only two patients could walk independently during final examination. We detected four novel nonsense variants (p.Gln85Ter, p. Cys48Ter, p. Arg94Ter and p. Gln134Ter) in RAB33B. This study provides important data on long-term skeletal findings of the patients with SMC2.
Subject(s)
Osteochondrodysplasias/genetics , Phenotype , rab GTP-Binding Proteins/genetics , Adolescent , Child , Child, Preschool , Codon, Nonsense , Female , Humans , Male , Osteochondrodysplasias/diagnostic imaging , Osteochondrodysplasias/pathologyABSTRACT
OBJECT: Optimal surgical technique to restore the cerebrospinal fluid flow through the foramen magnum remains to be debated in Chiari malformation type 1 (CM-1) patients. METHOD: This study included 46 patients with CM-1 who underwent surgical treatment by one of two methods: posterior fossa bone decompression (BD) with arachnoid preserving duraplasty (Group 1) and BD with duraplasty and arachnoid dissection (Group 2). Complaints of the patient population and neurological findings were assessed with Neck Disability Index (NDI) and Europe Quality of Life 5 Dimensions (EQ-5D) in pre- and postoperative periods. RESULTS: NDI and EQ-5D scores improved in overall patient population and in each individual surgical group. Both groups showed a significant decrease in size of syringomyelia cavity. Complications resulting in recurrent treatments and re-operations occurred in 15% of patients (n = 7); six of them were from Group 2. CONCLUSION: CM-1 patients benefit significantly from surgical treatment. Duraplasty should be included to surgical technique. Avoiding arachnoid dissection may lead to better results regarding complication rates.
Subject(s)
Arachnoid/surgery , Arnold-Chiari Malformation/surgery , Dura Mater/surgery , Neurosurgical Procedures/methods , Adolescent , Adult , Aged , Decompression, Surgical/methods , Female , Humans , Male , Middle Aged , Young AdultABSTRACT
OBJECTIVE: Fluorescein sodium (FNa) videoangiography (VA) was performed to evaluate blood flow within vessels and exclusion of the aneurysm after surgical clipping of intracranial aneurysms. The aim of this study was to report results of FNa-VA in a case series, including benefits and limitations of the technique, and compare intraoperative findings with postoperative cerebral angiography to assess reliability of FNa-VA. METHODS: The study included 64 aneurysms in 50 consecutive patients. Following clip ligation of the aneurysm, 100 mg of FNa was administered intravenously. The microscope light was switched to the FL560 integrated fluorescence module. Aneurysm sac, parent arteries, and perforating arteries were observed. RESULTS: FNa-VA promoted real-time assessment of the surgical field in three-dimensional view through the binoculars with good image quality. In 79.68% of aneurysms, FNa-VA confirmed satisfactory clip application, as FNa did not penetrate into the aneurysm. In 14.06% of aneurysms, a homogeneous yellow-green color change occurred, which was accepted as a false-positive sign. In 6.25% of aneurysms, FNa seeped into the aneurysm emitting a heterogeneous green signal, which slowly dispersed throughout the sac. Postoperative angiography revealed satisfactory results. Small neck remnants were present in 5 patients, and mild parent artery stenosis was found in 3 patients. No ischemic event occurred secondary to parent artery or perforating artery occlusion. CONCLUSIONS: FNa-VA adds greatly to the safety of surgical treatment of intracranial aneurysms, particularly in lesions situated in deep locations, by enabling real-time inspection, which facilitates safer manipulation and evaluation of structures in question.
Subject(s)
Cerebral Angiography , Coloring Agents , Fluorescein , Intracranial Aneurysm/surgery , Adult , Aged , Arteries/pathology , Arteries/surgery , Cerebral Angiography/methods , Female , Fluorescein/therapeutic use , Humans , Male , Middle Aged , Monitoring, Intraoperative/methods , Neurosurgical Procedures/methods , Reproducibility of Results , Vascular Surgical Procedures/methodsABSTRACT
OBJECTIVE: Radionuclide CSF study is a simple, effective, and low-radiation-dose procedure for the assessment of shunt patency. With the help of CT image of single-photon emission computed tomography/computed tomography (SPECT/CT), the interpretation becomes more accurate and easier.The aim of this study was to compare the classical methods and 2D planar scintigraphic images with radionuclide shuntography fused SPECT/CT. METHODS: Between 2015-2019 all hydrocephalic patients who underwent radionuclide shuntography and classical methods (cranial CT, USG and/or direct X-rays), for suspected VP shunt malfunction at our hospital were retrospectively enrolled in the study. Fusion with SPECT/CT is provided in all radionuclide shuntographies. Approximately 0.5-1â¯mCi diethylene-triaminepentaaceticacid (DTPA) was intrathecally injected. Images were collected as 5-second frames for the first minute, and 1-min frames for the second to the 30th min. Static whole body images were obtained as early (30â¯min) and delayed (120â¯min) images. SPECT/CT was performed in 120â¯min. RESULTS: When the classical methods were evaluated in the operated patients, according to the direct radiographic findings, in only 17 patients had shunt dysfunction due to disconnection-kinking or laceration, was obtained.On the other hand,while67 shuntography were evaluated,65 of these patients (97%) whose intraoperative and shuntography findings were found to be compatible with each other. CONCLUSION: The 3D SPECT images combined with the two-dimensional planar images added to the CT provide more accurate information and also provide detailed anatomical information. The patient's operation was performed successfully in one session in cooperation with the other surgical branches when needed.
Subject(s)
Hydrocephalus/diagnostic imaging , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Hydrocephalus/surgery , Infant , Male , Middle Aged , Radionuclide Imaging , Single Photon Emission Computed Tomography Computed Tomography , Young AdultABSTRACT
AIM: To determine the effect of using three concurrent measures (2% chlorhexidine gluconate +70% alcohol for skin cleaning, changing the dressing every 48 hours, and observing the operating room) for patients who had venriculoperitoneal shunt (VPS) implantations on the infection rate. MATERIAL AND METHODS: This was a prospective interventional study. Using infection prevention compliance control lists, patients who had a VPS implanted between November 2012 and November 2013 were compared to those who had a VPS implanted between October 2011 and October 2012. The data included information about the patients, follow-up, and infection prevention. These data were obtained for the pre-, peri-, and postoperative periods. RESULTS: Triple bundle prevention in the applied protocol significantly reduced the VPS infection rate in the study group compared to the control group (p < 0.005). CONCLUSION: These findings revealed the importance of creating a prevention protocol and following it regularly in a way for all surgery, operating room, and service teams fully comply to prevent VPS infections.
Subject(s)
Equipment Contamination/prevention & control , Hydrocephalus/surgery , Infection Control/methods , Ventriculoperitoneal Shunt/methods , Adolescent , Child , Child, Preschool , Chlorhexidine/administration & dosage , Chlorhexidine/analogs & derivatives , Female , Humans , Hydrocephalus/diagnosis , Infant , Infant, Newborn , Male , Prospective Studies , Risk Factors , Ventriculoperitoneal Shunt/adverse effectsABSTRACT
AIM: To determine whether neuroradiological assessment of skull base and non-skull base meningioma consistency and vascularity can be used to improve the surgical approach. MATERIAL AND METHODS: Forty meningioma cases were split into skull base (n=16) and non-skull (n=24) base groups, and intraoperative surgical reports of observed tumor consistency (stiffness) and vascularity were compared with preoperative neuroradiological magnetic resonance (MR) perfusion and postoperative histopathological analysis of collagen and CD34 levels. RESULTS: The skull base group had significantly higher CD34 levels (p=0.004) than the non-skull base group. Further comparison of CD34 levels also revealed significantly higher CD34 levels (p=0.032) in transitional versus fibroblastic subtypes. Observationbased vascularity scoring did not reveal a significant correlation between tumor grade and relative cerebral blood volume (p=0.604). In contrast, there was a statistically modest, but significant correlation between intraoperative observation-based consistency and Verhoeff-van Gieson collagen scores (rs=0.400). CONCLUSION: Preoperative assessment of consistency and vascularity using MR imaging was ambiguous. Overall, one of the most important limiting factors was the subjective observational assessment of tumor consistency and vascularity by surgical teams.
Subject(s)
Meningeal Neoplasms/pathology , Meningioma/pathology , Skull Base Neoplasms/pathology , Adult , Aged , Antigens, CD34/analysis , Biomarkers, Tumor/analysis , Female , Humans , Magnetic Resonance Imaging , Male , Meningeal Neoplasms/diagnostic imaging , Meningeal Neoplasms/surgery , Meningioma/diagnostic imaging , Meningioma/surgery , Middle Aged , Preoperative Care , Skull Base Neoplasms/diagnostic imaging , Skull Base Neoplasms/surgeryABSTRACT
BACKGROUND/AIM: The single nucleotide polymorphism -31C/G identified in the survivin gene promoter seems to be associated with over-expression of survivin, an anti-apoptotic protein. In gliomas, increased survivin expression correlated with decreased survival. The aim of the study was to investigate whether survivin gene polymorphism associates with benign and malignant brain tumors and whether it affects survivin serum levels. PATIENTS AND METHODS: Survivin polymorphism -31C>G was genotyped in 82 patients with brain tumors and 65 healthy controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and survivin levels were evaluated by enzyme-linked immuno sorbent assay (ELISA) in patients and controls. RESULTS: Serum survivin levels in patients with malignant tumors were higher than patients with benign tumors (p<0.001). Survivin levels in patients with malignant glial tumors and the frequency of the GG genotype were higher than in patients with benign tumors (p=0.04) and controls (p=0.05). The prevelance of the survivin gene promoter polymorphism -31C>G did not differ between patients and controls. CONCLUSION: Survivin promoter -31C>G gene polymorphism seems to be associated with serum survivin levels in brain tumors of different grades and histologies.
Subject(s)
Biomarkers, Tumor/blood , Biomarkers, Tumor/genetics , Brain Neoplasms/blood , Brain Neoplasms/genetics , Inhibitor of Apoptosis Proteins/blood , Inhibitor of Apoptosis Proteins/genetics , Polymorphism, Single Nucleotide , Brain Neoplasms/pathology , Case-Control Studies , Female , Follow-Up Studies , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Prognosis , SurvivinABSTRACT
BACKGROUND/AIM: High-grade gliomas (HGG) consist of anaplastic oligoastrocytomas, anaplastic oligodendrogliomas, anaplastic astrocytomas and glioblastoma multiforme. The present study aimed to evaluate TNF-α -308 G>A polymorphism in a Turkish population. PATIENTS AND METHODS: This was a prospective case-control study that included 45 patients with HGG and 49 healthy individuals. All patients were operated for intracranial tumors and the pathology results consist of high grade (Grade3 and 4) glial tumors. RESULTS: No significant differences were found between the HGG and control groups in terms of the median age (p=0.898). There were no significant differences with regard to gender (p=0.577). The TNF genotype frequency comparison between patients and controls was not statistically significant (p=0.598). CONCLUSION: TNF genotype frequency comparison between the patients and controls was not statistically significant in the Turkish population tested. However, further studies are needed to evaluate the genotype and phenotype correlations in large cohorts of various ethnicities.
Subject(s)
Alleles , Glioma/genetics , Glioma/pathology , Polymorphism, Single Nucleotide , Tumor Necrosis Factor-alpha/genetics , Adult , Case-Control Studies , Female , Gene Frequency , Genotype , Humans , Male , Middle Aged , Neoplasm Grading , Young AdultABSTRACT
BACKGROUND/AIM: This study is the first to evaluate the relationship of caspase-9 (CASP-9) gene polymorphism with the risk for primary brain tumor development. MATERIALS AND METHODS: The study group included 43 glioma and 27 meningioma patients and 76 healthy individuals. CASP-9 gene Ex5+32 G>A (rs1052576) polymorphism was analyzed by real-time polymerase chain reaction (RT-PCR). RESULTS: Individuals with the CASP-9 GG genotype had significantly decreased risk of developing a glioma brain tumor (p=0.024). Additionally, the GA genotype was significantly lower in patients with glioma than the control group (p=0.019). A significantly decreased risk of developing glioma was found in the A allele carrier group (p=0.024). However, there was no statistically significant relationship between CASP-9 polymorphism and brain meningioma (p=0.493). CONCLUSION: CASP-9 (rs1052576) mutant A allele seems to be a protective factor for glioma brain tumor. Future studies with a larger sample size will clarify the possible roles of CASP-9 gene in the etiology and progression of primary brain tumors.
Subject(s)
Biomarkers, Tumor/genetics , Brain Neoplasms/genetics , Caspase 9/genetics , Glioma/genetics , Meningeal Neoplasms/genetics , Meningioma/genetics , Polymorphism, Single Nucleotide/genetics , Case-Control Studies , Female , Follow-Up Studies , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Mutation , Neoplasm Staging , Prognosis , Prospective Studies , Risk FactorsABSTRACT
BACKGROUND: Alteration in cell-cycle control and apoptosis pathways play important roles in tumorigenesis. Caspase-8 (CASP8) is a member of the cysteine protease family, that is implicated in apoptosis regulation. The present study was designed to investigate the possible role of CASP8 D302H gene polymorphism in the tumor development. MATERIALS AND METHODS: A total of 91 patients with brain tumors (including 39 meningioma and 52 glioma cases) and 114 healthy controls were included in the study. We investigated CASP8 D302H polymorphism by using polymorphism chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. RESULTS: The CASP8 D302H polymorphism genotypic frequencies were not statistically significantly different between meningioma cases and controls, with frequencies of GG, GC and CC genotypes of 71.2%, 19,2% and 9.6%; and 57.9%, 36.8% and 5.3%, respectively. The GG/CC genotypic frequencies were significantly increased in patients with glioma patients compared to controls (p=0.023) (χ(2)=5.149, odds ratio [OR]=1.27, 95% confidence interval [CI]=1.054-1.551). According to tumor characteristics, there were no statistically significant differences within the groups with astrocytic, oligoastrocytic tumors and oligodentriogliomas. CONCLUSION: D302H polymorphism of CASP8 gene may be associated with increased risk of glioma but larger study groups in different ethnic populations are needed to better elucidate the role of CASP8 gene polymorphism in the pathogenesis of primary brain tumors.
Subject(s)
Brain Neoplasms/genetics , Caspase 8/genetics , Polymorphism, Single Nucleotide , Adult , Amino Acid Substitution , Brain Neoplasms/diagnosis , Case-Control Studies , Codon , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Odds RatioABSTRACT
Skull base endoscopy in the treatment of brain abscesses has been rarely published. Moreover, endoscopic endonasal transethmoidal approach (EETA) for the treatment of brain abscess following a head trauma has been reported only in a few case reports. We report the management of a patient of intracerebral abscess and reconstruction of the accompanying anterior skull base defect through an EETA.Thirty-year-old male with a frontal lobe abscess due to a penetrating skull base trauma was operated via EETA. After drainage of the abscess, dural and bony defects were repaired to prevent any recurrence. Postoperative radiological imaging revealed prominent decrease in abscess size. The patient did not need any further surgical intervention, and antibiotherapy was adequate.EETA is safe and effective in the management of brain abscesses. Skull base endoscopy provides direct visualization of the abscess cavity through a minimal invasive route, facilitates wide exposure of surrounding neurovascular structures within the operative field, and enables concurrent closure of the skull base defect.
Subject(s)
Brain Abscess/surgery , Frontal Lobe/surgery , Head Injuries, Penetrating/complications , Natural Orifice Endoscopic Surgery/methods , Plastic Surgery Procedures/methods , Skull Base/surgery , Adult , Anti-Bacterial Agents/therapeutic use , Brain Abscess/etiology , Drainage/methods , Dura Mater/injuries , Dura Mater/surgery , Ethmoid Bone/injuries , Humans , Male , Minimally Invasive Surgical Procedures/methods , Orbital Fractures/etiology , Skull Base/injuries , Skull Fractures/etiology , Skull Fractures/surgeryABSTRACT
BACKGROUND/AIM: Primary brain tumors are unique tumors due to their different pathobiological behavior, while they rarely metastasize outside the central nervous system. Regarding the oncogenesis of primary brain tumors, it was shown that changes in functions of p16 and mouse double minute 2 homolog (MDM2) are related to tumor pathogenesis by enhancing cell proliferation and malign development. The present study aims to evaluate the possible associations between cyclin-dependent kinase 2 (CDKN2) p16 540 C>G and 580 C>T, MDM2 single nucleotide polymorphism 309 (SNP309) T>G polymorphisms and primary brain tumor. MATERIALS AND METHODS: Using polymerase chain reaction-restriction fragment length polymorphism technique, we determined SNPs in 67 patients with primary brain tumors and 71 healthy volunteers without malignancy. RESULTS: The frequency of CC genotype for CDKN2 p16 540 C>G was significantly two-fold higher (p<0.001) and possessing a C allele conferred a ~7-fold increased risk (p=0.005) of primary brain tumor. We also found that the CC genotype produced a higher ~4-fold risk of glioma (p=0.001) and the G allele had a possibly protective role against meningioma (~4.8-fold reduced risk, p=0.001). We found no significant associations for CDKN2 p16 580 C>T and MDM2 SNP309 T>G variants between cases and controls. CGT haplotype was significantly less frequent in patients with primary brain tumors and glioma cases (p=0.009 and p=0.028, respectively) than controls. CGG haplotype was significantly less frequent in patients with meningioma versus the control group (p=0.023). CONCLUSION: These findings show that CDKN2 p16 540 C>G, CDKN2 p16 580 C>T and MDM2 SNP309 T>G variants and their haplotypes may be risk factors for the development of primary brain tumors, especially of glioma.
Subject(s)
Brain Neoplasms/genetics , Cyclin-Dependent Kinase Inhibitor p16/genetics , Genetic Predisposition to Disease/genetics , Polymorphism, Single Nucleotide/genetics , Proto-Oncogene Proteins c-mdm2/genetics , Alleles , Case-Control Studies , Female , Glioma/genetics , Haplotypes/genetics , Humans , Male , Meningioma/genetics , Middle Aged , RiskABSTRACT
Primary diffuse leptomeningeal gliomatosis is a disease with an aggressive course that can result in death. To date, 82 cases have been reported. Here, the case of a 3-year-old male patient presenting with strabismus, headache, and restlessness is reported. Physical examination revealed paralysis of the left abducens nerve, neck stiffness, and bilateral papilledema. Tuberculous meningitis was tentatively diagnosed, and antituberculosis treatment was initiated when cranial imaging revealed contrast enhancement around the basal cistern. Craniocervical magnetic resonance imaging (MRI) was performed when there was no response to treatment, and it revealed diffuse leptomeningeal contrast enhancement around the basilar cistern, in the supratentorial and infratentorial compartments, and in the spinal region. Primary diffuse leptomeningeal gliomatosis was diagnosed by a meningeal biopsy.
Subject(s)
Meningeal Neoplasms/diagnosis , Neoplasms, Neuroepithelial/diagnosis , Tuberculosis, Meningeal/physiopathology , Child, Preschool , Contrast Media , Humans , Magnetic Resonance Imaging , Male , S100 Proteins/metabolismABSTRACT
The purpose of this study was to investigate whether functional polymorphisms of apoptosis pathway genes FAS and FASL are associated with the development of primary brain tumors. The study constituted 83 patients with primary brain tumor and 108 healthy individuals. In the present case-control study, the primary brain tumors were divided into two groups: gliomas and meningiomas. Evaluation of FAS -1377 G/A and FASL -844 T/C gene polymorphisms were performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). To confirm the genotyping, results were examined by DNA sequencing method. Our results were analyzed by SPSS. The frequency of the FAS -1377 AA genotype was significantly lower in meningioma and glioma patients compared to controls (p = 0.023; p = 0.001, respectively). Multivariate logistic regression analysis revealed that FAS -1377 AA genotype was associated with decreased risk of meningioma and glioma (OR = 0.092, 95% CI: 0.012-0.719, p = 0.023 for meningiomas; OR = 0.056, 95% CI: 0.007-0.428, p = 0.006 for gliomas). However, there was no significant differences in FASL -844 T/C genotype frequencies between patients with primary brain tumors and controls (p > 0.05). In this study, combined genotypes were evaluated for association with primary brain tumors. Combined genotype analysis showed that the frequencies of AATC and AACC were significantly lower in glioma patients in comparison with those of controls (p = 0.023; p = 0.022, respectively). This study provides the first evidence that FAS -1377 AA genotype may have a protective effect on the developing primary brain tumor in a Turkish population.
Subject(s)
Brain Neoplasms/genetics , Fas Ligand Protein/genetics , Glioma/genetics , Meningeal Neoplasms/genetics , Meningioma/genetics , fas Receptor/genetics , Adult , Case-Control Studies , Female , Humans , Male , Middle Aged , Polymorphism, Genetic , TurkeyABSTRACT
BACKGROUND: Primary brain tumors constitute a small percent of all malignant cancers, but their etiology remains poorly understood. ß3 integrin (ITGB3) has been recognized to play influential roles in angiogenesis, tumor growth and metastasis. Intercellular adhesion molecule-1 (ICAM-1) is a surface glycoprotein important for tumor invasion and angiogenesis. The aim of this study was to investigate whether specific genetic polymorphisms of ICAM-1 and ITGB3 could be associated with brain cancer development and progression in a Turkish population. Our study is the first to our knowledge to investigate the relationship between brain tumor risk and ICAM-1 and ß3 integrin gene polymorphisms. MATERIALS AND METHODS: The study covered 92 patients with primary brain tumors and 92 age-matched healthy control subjects. Evaluation of ß3 integrin (Leu33Pro (rs5918)) and ICAM-1 (R241G (rs1799969) and K469E (rs5498)) gene polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: According to results of our research, the A allele of the ICAM-1 R241G gene polymorphism appeared to be a risk factor for primary brain tumors (p<0.001). Similarly, the frequency of the A mutant allele of ICAM-1 R241G was statistically significant in patients with brain tumors classified as glioma (p<0.001). When allele and genotype distributions of ICAM- 1 K469E, ICAM-1 R241G and ß3 integrin Leu33Pro gene polymorphisms were evaluated with age, sex, and smoking, there were no statistically significant differences. Haplotype analysis revealed that the frequencies of GAC (rs1799969-rs5498-rs5918) and GAT (rs1799969-rs5498-rs5918) haplotypes were significantly lower in patients as compared with controls (p=0.001; p=0.036 respectively). CONCLUSIONS: This study provides the first evidence that ICAM-1 R241G SNP significantly contributes to the risk of primary brain tumors in a Turkish population. In addition, our results suggest that ICAM-1 R241G in combination ICAM-1 K469E may have protective effects against the development of brain cancer.
Subject(s)
Biomarkers, Tumor/genetics , Brain Neoplasms/genetics , Integrin beta3/genetics , Intercellular Adhesion Molecule-1/genetics , Polymorphism, Single Nucleotide/genetics , Case-Control Studies , DNA/analysis , DNA/genetics , Female , Follow-Up Studies , Genotype , Haplotypes/genetics , Humans , Male , Middle Aged , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Prognosis , Prospective Studies , Risk FactorsABSTRACT
Alterations of cyclin D1, one of the main regulators of the cell cycle, are known to be involved in various cancers. The CCDN1 G870A polymorphism causes production of a truncated variant with a shorter half-life and thus thought to impact the regulatory effect of CCDN1. The aim of the present study was to contribute to existing results to help to determine the prognostic value of this specific gene variant and evaluate the role of CCDN1 G870A polymorphism in brain cancer susceptibility. A Turkish study group including 99 patients with primary brain tumors and 155 healthy controls were examined. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism analysis. The CCDN1 genotype frequencies in meningioma, glioma and control cases were not significantly different (p>0.05). No significant association was detected according to clinical parameters or tumor characteristics; however, a higher frequency of AG genotype was recorded within patients with astrocytic or oligoastrocytic tumors. A significant association between AG genotype and gliobilastoma multiforme (GBM) was recorded within the patients with glial tumors (p value=0.048 OR: 1.87 CI% 1.010-3.463). According to tumor characteristics, no statistically significant difference was detected within astrocytic, oligoasltrocytic tumors and oligodentrioglias. However, patients with astrocytic astrocytic or oligoastrocytic tumors showed a higher frequency of AG genotype (50%) when compared to those with oligodendrioglial tumors (27.3%). Our results indicate a possible relation between GBM formation and CCDN1 genotype.
Subject(s)
Brain Neoplasms/genetics , Cyclin D1/genetics , Glioma/genetics , Meningeal Neoplasms/genetics , Meningioma/genetics , Polymorphism, Genetic/genetics , Adult , Brain Neoplasms/pathology , Case-Control Studies , Female , Follow-Up Studies , Genetic Predisposition to Disease , Genotype , Glioma/pathology , Humans , Male , Meningeal Neoplasms/pathology , Meningioma/pathology , Middle Aged , Neoplasm Staging , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Prognosis , Risk FactorsABSTRACT
Objective. It has been stated that brain cancers are an increasingly serious issue in many parts of the world. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of glioma and meningioma. Methods. We investigated the VDR Taq-I and VDR Fok-I gene polymorphisms in 100 brain cancer patients (including 44 meningioma cases and 56 glioma cases) and 122 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism (RF LP). Results. VDR Fok-I ff genotype was significantly increased in meningioma patients (15.9%) compared with controls (2.5%), and carriers of Fok-I ff genotype had a 6.47-fold increased risk for meningioma cases. There was no significant difference between patients and controls for VDR Taq-I genotypes and alleles. Conclusions. We suggest that VDR Fok-I genotypes might affect the development of meningioma.