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1.
Acta Neurol Belg ; 2024 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-38642294

RESUMO

AIM: We aimed to describe the computed tomography (CT) and magnetic resonance (MR) imaging findings of intracranial extra-axial chondroma. MATERIAL AND METHODS: We retrospectively evaluated the imaging findings of CT and MR examinations of six patients (three men and three women, aged 21-66 years) with histopathological diagnoses of intracranial extra-axial chondroma. RESULTS: Four tumors were located in the frontal region and two in the cavernous sinus. All the tumors showed low signals on diffusion-weighted images and high signals on apparent diffusion coefficient maps without restricted diffusion. There was no perifocal edema in all the tumors. Cavernous sinus chondromas were associated with bone erosion and anterior displacement of the internal carotid arteries, but without calcification. Calcification was present in all frontal chondromas. All the tumors revealed low signals on T1-weighted MR images. Frontal chondromas revealed mixed signals, but cavernous sinus chondromas were brightly hyperintense on T2-weighted MR images. No enhancement was detected in the two chondromas. An intense homogeneous enhancement was detected in a cavernous sinus chondroma. CONCLUSION: The imaging appearances of frontal extra-axial chondromas and cavernous sinus chondromas may have different imaging appearances. Although there is a wide range of imaging findings, the absence of restricted diffusion, perifocal edema, enhancement, and presence of low signals on T1-weighted MR images in a well-circumscribed calcified extra-axial mass should suggest an intracranial chondroma.

2.
Anat Histol Embryol ; 53(3): e13032, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38525664

RESUMO

The objective of this study is to assess the efficacy of a solution including honey, ethyl alcohol, liquid paraffin, distilled water and citric acid (HEFS) as a preservative for rabbit cadavers, serving as a potential substitute for formaldehyde. The cadavers underwent preservation using three distinct solutions: 10% formalin, 35% alcohol and HEFS. The cadavers were subjected to a total of four sampling events, occurring at 4-month intervals, in order to collect specimens for microanatomical, histological, microbiological, mycological, colourimetric, texture and odour analysis. In terms of hardness, suitability for dissection and joint mobility metrics, the cadavers fixed with HEFS had superior qualities to those fixed with formalin. The fixation quality of HEFS for histological analyses was deemed acceptable, except kidney and intestinal tissues. In texture analysis, differences only in the elasticity parameter (p < 0.05) in the same sampling period. A total of 10 (13.9) bacteria isolates were identified among which, Metasolibacillus meyeri 3 (30%) was predominantly followed by Staphylococcus aureus 2 (20%), Bacillus siamensis, Bacillus subtilis, Pseudarthrobacter oxydans, Bacillus licheniformis, Bacillus subtilis subsp. subtilis with a proportion of 1 (10%), respectively, by both microbiological and molecular analysis. However, no anaerobic bacteria and fungi were isolated. A considerable percentage of the students had the perception that HEFS was appropriate for utilization in laboratory settings due to its absence of unpleasant odours and detrimental impact on ocular and respiratory functions. In conclusion, we consider that HEFS may serve as a viable substitute for formalin solution in the preservation of rabbit cadavers.


Assuntos
Bacillus , Mel , Óleo Mineral , Humanos , Animais , Coelhos , Etanol , Ácido Cítrico/farmacologia , Formaldeído/farmacologia , Cadáver , Água/farmacologia , Fixadores/farmacologia
4.
Childs Nerv Syst ; 40(4): 1277-1284, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38224363

RESUMO

OBJECTIVE: Infantile myofibromatosis is a rare entity of childhood characterized by benign myofibroblastic tumors in the soft tissues, the bones, and occasionally the viscera. Solitary skeletal lesions are relatively uncommon. Calvarial involvement should be distinguished from more aggressive tumors for appropriate treatment. METHODS: We reviewed solitary infantile myofibroma of the calvarium and discussed the relevant computed tomography and magnetic resonance imaging findings along with differential diagnosis. A case study of the frontal bone in a 5-month-old girl was also presented. RESULTS: Fourteen cases were reviewed, including the current case. Of the 13 cases with known sex, eight were male and five female. The mean age was 3.03 with an age range of 0.41-9 years. Nine of the 14 tumors were in the frontal bone. The lesions were intradiploic with tabula interna and/or externa of the calvaria involvement. The mean largest diameter was 22.3 mm. Upon computed tomography, all the lesions were expansile and lytic, and hypoattenuated, isoattenuated or occasionally hyperatenuated. Calcification was not seen. On magnetic resonance imaging, most neoplasms were hypointense on T1-weighted and T2-weighted images. Neoplasms showed hypointense signal on diffusion-weighted imaging and hyperintense on apparent diffusion coefficient, without restricted diffusion in three cases. All lesions were intensely enhanced after gadolinium administration. Treatment was total surgical resection and recurrence was not observed during follow-up. CONCLUSIONS: Infantile myofibromas are rare, typically intradiploic expansile lytic lesions with tabula interna and/or externa involvement. Distinctive imaging features include the presence of hipointense signals on T2-weighted magnetic resonance images without restricted diffusion on diffusion-weighted imaging. A slow-growing, firm, painless, and nontender mass with supportive imaging findings should raise suspicion of the disease.


Assuntos
Miofibroma , Miofibromatose , Feminino , Humanos , Lactente , Imagem de Difusão por Ressonância Magnética , Osso Frontal/patologia , Imageamento por Ressonância Magnética , Miofibroma/patologia , Miofibroma/cirurgia , Miofibromatose/diagnóstico , Miofibromatose/patologia , Miofibromatose/cirurgia
5.
Artigo em Inglês | MEDLINE | ID: mdl-38192518

RESUMO

Purpose: Breast cancers exhibit molecular heterogeneity, leading to diverse clinical outcomes and therapeutic responses. Immune checkpoint inhibitors targeting PD-L1 have shown promise in various malignancies, including breast cancer. Lipocalin 2 (LCN2) has also been associated with tumor aggressiveness and prognostic potential in breast cancers. However, the expression of PD-L1 and LCN2 in breast cancer subtypes and their prognostic implications remains poorly investigated. Methods: A retrospective analysis of 89 primary breast cancer cases was conducted to assess PD-L1 and LCN2 expressions using immunohistochemistry. Cases were classified into four different molecular subtypes based on ER, PR, HER2, and Ki-67 status. Associations between PD-L1 and LCN2 expressions and various prognostic factors were examined. Results: Although low expression of LCN2 (Allred score of <3) was observed even in normal breast tissue, LCN2 expression with increasing Allred score (≥3) positively correlated with the histological grade, high Ki-67 proliferation index, and ER/PR negativity. Significant elevations of LCN2 and PD-L1 expressions were observed in triple-negative and HER2-positive breast cancers. Conclusion: The results of the study highlight the association of LCN2 with known prognostic factors and molecular subtypes. To identify potential immunotherapy recipients, it would be useful to evaluate LCN2 as well as PD-L1 immune targets in different subgroups of breast cancer patients. Further studies with larger patient numbers are warranted to validate these observations and establish standardized scoring criteria for LCN2 expression assessment.

7.
Curr Med Imaging ; 19(12): 1415-1426, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36788686

RESUMO

BACKGROUND: Diffuse leptomeningeal glioneuronal tumors (DL-GNT) are rare glioneuronal neoplasms with oligodendroglioma-like cells. These tumors can present as a dominant intracranial mass or as a solitary spinal cord mass without leptomeningeal involvement. In this study, we aimed to determine the magnetic resonance imaging and histopathological features, treatment modalities, and clinical outcomes of the parenchymal forms of DL-GNTs. METHODS: This is a retrospective three-center case series study of 5 patients with a confirmed parenchymal form of DLGTs, out of which 4 patients were adults. Brain and spinal cord MR imaging were performed in all patients at either 1.5 or 3T. The patients' age ranged from 5 years to 50 years with a mean age of 27.6 years at presentation. RESULTS: Four of the tumors were located in the frontal lobe, and one in the tectum. They were usually solid-cystic enhancing tumors as the other mixed neuronal-glial tumors. All of the tumors had an extension to the superficial surface of a cerebral hemisphere. One had systemic bone metastases. The clinical signs and symptoms of the parenchymal form varied based on the location of the mass, in contrast to the leptomeningeal form associated with hydrocephalus. In one case, the tumor's initial grade was defined as intermediate. The initial histopathology of the two cases was low-grade and no upgrade occurred in the follow-up period. In two cases, although the tumors were low grade initially, they progressed to an anaplastic form in the follow-up period. CONCLUSION: The parenchymal form of DL-GNTs is common in adults. Extension to the superficial surface of a cerebral hemisphere is a distinctive imaging feature. Systemic osseous metastasis may occur. Due to the presence of common histopathological features, including the biphasic composition of glial and neuronal cell elements and oligodendroglioma-like cells, a proposed classification approach might be more beneficial for the histopathological and imaging description, and management of the glioneuronal tumors with oligodendroglioma-like features.


Assuntos
Glioma , Neoplasias Meníngeas , Oligodendroglioma , Adulto , Humanos , Pré-Escolar , Oligodendroglioma/diagnóstico por imagem , Oligodendroglioma/patologia , Estudos Retrospectivos , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/patologia , Encéfalo/patologia
8.
Br J Neurosurg ; 37(3): 345-346, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32375520

RESUMO

BACKGROUND: Radiation exposure is a known risk factor for meningioma but there are no data regarding hemangiopericytoma and radiation exposure. CASE DESCRIPTION: We report a 29-year-old pineoblastoma patient diagnosed with a hemangiopericytoma at a different location, after a successful surgical excision and adjuvant radiotherapy for the original tumor 4-year prior. CONCLUSION: Hemangiopericytoma emergence can be seen after radiotherapy.


Assuntos
Neoplasias Encefálicas , Hemangiopericitoma , Neoplasias Meníngeas , Meningioma , Glândula Pineal , Humanos , Adulto , Hemangiopericitoma/radioterapia , Hemangiopericitoma/cirurgia , Meningioma/cirurgia , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/cirurgia , Neoplasias Encefálicas/patologia , Neoplasias Meníngeas/cirurgia , Glândula Pineal/patologia
9.
Curr Med Imaging ; 19(11): 1351-1359, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36424770

RESUMO

BACKGROUND: Pineal region solitary fibrous tumors (SFT) incorporate a histologic spectrum of rarely metastasizing mesenchymal neoplasms that include tumors formerly classified as hemangiopericytoma. CASE REPORT: Here, we describe a rare case of SFT of the pineal region in a 25-year-old man with a literature review. After the first surgery, the tumor reappeared as a local low-grade recurrence, followed by metastasis to the right parietal lobe, and then hyperacute intraparenchymal hematoma at the metastatic site, and later presentation of widespread intracranial intra-axial and extra-axial metastases during the follow-up period. Systemic metastases were not detected. The histopathological evaluation of the resected tissues confirmed the malignant progression of the tumor. CONCLUSION: The diagnosis of SFT of the pineal region through clinical and imaging features can be considerably challenging. Large size, intratumoral cystic areas, and intense contrast enhancement are the main conventional imaging characteristics of the tumor. Surgery is the first preferential treatment. All recurrent or metastatic cases were grade II or grade III tumors. Adjuvant radiotherapy should be added to surgical treatment in high-grade tumors. Gamma knife radiosurgery is a treatment option for intracranial metastases.


Assuntos
Hemangiopericitoma , Tumores Fibrosos Solitários , Masculino , Humanos , Adulto , Hemangiopericitoma/diagnóstico por imagem , Hemangiopericitoma/cirurgia , Tumores Fibrosos Solitários/diagnóstico por imagem , Tumores Fibrosos Solitários/cirurgia
10.
Cell Death Discov ; 8(1): 433, 2022 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-36309485

RESUMO

Anti-apoptotic members of the Bcl-2 family proteins play central roles in the regulation of cell death in glioblastoma (GBM), the most malignant type of brain tumor. Despite the advances in GBM treatment, there is still an urgent need for new therapeutic approaches. Here, we report a novel 4-thiazolidinone derivative BH3 mimetic, BAU-243 that binds to Bcl-2 with a high affinity. BAU-243 effectively reduced overall GBM cell proliferation including a subpopulation of cancer-initiating cells in contrast to the selective Bcl-2 inhibitor ABT-199. While ABT-199 successfully induces apoptosis in high BCL2-expressing neuroblastoma SHSY-5Y cells, BAU-243 triggered autophagic cell death rather than apoptosis in GBM A172 cells, indicated by the upregulation of BECN1, ATG5, and MAP1LC3B expression. Lc3b-II, a potent autophagy marker, was significantly upregulated following BAU-243 treatment. Moreover, BAU-243 significantly reduced tumor growth in vivo in orthotopic brain tumor models when compared to the vehicle group, and ABT-199 treated animals. To elucidate the molecular mechanisms of action of BAU-243, we performed computational modeling simulations that were consistent with in vitro results. Our results indicate that BAU-243 activates autophagic cell death by disrupting the Beclin 1:Bcl-2 complex and may serve as a potential small molecule for treating GBM.

11.
Vet Res Forum ; 13(4): 469-474, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36686870

RESUMO

The purpose of this study was to investigate the tetracycline resistance in Trueperella pyogenes isolates from bovine samples in Burdur, Turkiye, and assess 16 tetracycline-resistance genes distribution among the isolates. Forty-nine T. pyogenes isolates were phenotypically characterized for anti-microbial resistance to doxycycline, oxytetracycline and tetracycline by disc diffusion method. Presence of tetracycline genes of T. pyogenes was investigated by multiplex and singleplex polymerase chain reaction. Our results indicated that 87.80% and 42.86% of the isolates were resistant to tetracycline and oxytetracycline, respectively, and the rate of resistance to doxycycline was 6.12%. Total of 21 (42.85%) were carrying tetracycline-resistance genes and tet(A) was present in 12 (24.49%) isolates; whereas, the tet(W) gene was identified in 9 (18.37%) and 2 (4.08%) of the isolates carried both tet(A) and tet(W), respectively. The study indicated antibiotic resistance patterns of tetracycline agents and links to the tet-genes among T. pyogenes were detected. It makes it worthwhile that this is the first report for detection of tet(A) gene in T. pyogenes.

12.
Front Vet Sci ; 8: 737720, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34568479

RESUMO

Avian pathogenic Escherichia coli (APEC) causes colibacillosis, the disease with the highest economic loss for the broiler industry. However, studies focusing on the prevalence and population structure of APEC in the broiler production pyramid are scarce. Here, we used genotyping and serotyping data to elucidate the APEC population structure and its changes in different broiler production stages along with whole-genome sequencing (WGS) in a subset of APEC isolates to determine transmission patterns amongst dominant APEC sequence types (STs) and characterize them in detail. Comparison of genotypes encountered in both APEC and avian fecal E. coli (AFEC) provided further insights. Overall, APEC-related mortality, as the proportion of the total sampled mortality in the broiler production, was high (35%), while phylogroup C and serogroup O78 were predominant amongst APEC isolates. We found a low (34.0%) and high (53.3%) incidence of colibacillosis in chicks and end-cycle broilers, respectively, which may be related to a shift in APEC genotypes, suggesting a trend from commensalism to pathogenicity across different broiler production stages. Despite considerable APEC genotypic diversity, there was substantial genotype overlap (40.9%, overall) over the production stages and convergence of STs to the four clusters. Within these clusters, WGS data provided evidence of clonal transmission events and revealed an enriched virulence and resistance APEC repertoire. More specifically, sequenced APEC were assigned to defined pathotypes based on their virulence gene content while the majority (86%) was genotypically multi-drug resistant. Interestingly, WGS-based phylogeny showed that a subset of APEC, which are cephalosporin-resistant, may originate directly from cephalosporin-resistant AFEC. Finally, exploration of the APEC plasmidome indicated that the small fraction of the APEC virulome carried by IncF plasmids is pivotal for the manifestation of the APEC pathotype; thus, plasmid exchange can promote pathogenicity in strains that are at the edge of the commensal and pathogenic states.

13.
Vet Ital ; 57(1): 41-47, 2021 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-34313097

RESUMO

Streptococcal species are known to be responsible for bovine mastitis. The aim of the present study was to determine antimicrobial drug resistance patterns of hemolytic streptococci distributed according to Lancefield serogrouping. Streptococcus sp. strains were isolated from 124 bovine milk samples from 31 cows with subclinical or clinical mastitis submitted to Mehmet Akif Ersoy University Faculty of Veterinary Medicine, Department of Microbiology Laboratory in Burdur province, Turkey from January 2015 to January 2017. A total of 63 Streptococcus sp. were isolated and the most frequently obtained isolates were classified as Lancefield's serogroup B (84.13%), the remaining isolates as serogroup F (15.87%). Out of 63 isolates, 53 (84.13%) showed beta­hemolytic activity whereas 10 (15.87%) alpha­hemolytic activity. Antimicrobial resistance was assessed by disk diffusion test against the most common antibiotics used in the field. Among the 63 Streptococcus sp. tested, the highest antimicrobial resistance patterns were observed for neomycin (95.24%), trimethoprim sulphamethoxazole (87.30%) and gentamicin (69.84%). None of the isolates showed resistance to amoxicillin­clavulanic acid, except for one serogroup F isolate. The resistance rates for the other antimicrobials ranged from 1.59% to 38.04%. A total of 50 isolates exibited multi­drug resistance to ≥ 3 antimicrobial agents tested. Overall, our results suggested that there is an urgent need to enhance awareness among the dairy farmers in choosing the appropriate drug for treating mastitis.


Assuntos
Antibacterianos/uso terapêutico , Gestão de Antimicrobianos , Farmacorresistência Bacteriana , Mastite Bovina/tratamento farmacológico , Streptococcus/isolamento & purificação , Animais , Antibacterianos/farmacologia , Bovinos , Indústria de Laticínios , Feminino , Mastite Bovina/microbiologia , Streptococcus/efeitos dos fármacos , Turquia/epidemiologia
14.
Turk Neurosurg ; 31(4): 587-593, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34169999

RESUMO

AIM: To elucidate the association of the MTHFR, MTRR, and RAD54L gene variations with meningioma in Turkish cohort. MATERIAL AND METHODS: DNAs were isolated from 87 retrospective meningioma samples. The MTHFR, MTRR, and RAD54L gene hotspot regions were amplified with specific primers via polymerase chain reaction (PCR), and next-generation sequencing (NGS) was performed. All the detected variations and single-nucleotide polymorphisms (SNPs) were listed and compared with healthy control frequencies in different genomic databases. The histopathological characteristics of meningiomas and genomic variations were compared. Pearson?s chi-squared test was used to detect the statistical differences of SNPs, and correlation analysis was conducted. RESULTS: rs1801131, rs1801133, and rs4846051 on MTHFR, rs1801394 on MTRR, and rs1048771 on RAD54L gene frequencies were found to be significantly altered in the overall cohort of 87 patients with meningioma. The frequency of rs18011031 is 0.09 in the meningioma cohort, which is significantly correlated with WHO tumor grades (p = 0.038). The frequency of rs18011033 is 0.29 in the meningioma cohort, which is significantly correlated with WHO tumor grades (p = 0.045). Furthermore, the frequency of rs4846051 is 0.18 in the meningioma cohort, which is significantly correlated with WHO tumor grades (p = 0.023) and also with low Ki67 proliferation index (p = 0.00455). The frequency of rs1801394 is 0.15 and significantly associated with high Ki67 proliferation index in the meningioma cohort (p = 0.0144). The frequency of rs1048771 is 0.09 in the meningioma cohort and is significantly associated with the non-necrotic histopathological form of the tumor (p = 0.05). CONCLUSION: We reported a significant association between the genetic alterations of folate metabolism (MTHFR, MTRR) and DNA repair mechanism (RAD54L) genes with the histopathological characteristics of meningioma. Five significant SNPs on these genes and four significant correlations of SNPs with histopathological characteristics were identified. This is a preliminary promising study conducted to establish the genetic marker analysis for meningioma diagnosis and prognosis for folate metabolism and DNA repair genes in Turkish cohort.


Assuntos
DNA Helicases/genética , Proteínas de Ligação a DNA/genética , Ferredoxina-NADP Redutase/genética , Neoplasias Meníngeas/genética , Meningioma/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Adulto , Idoso , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Neoplasias Meníngeas/epidemiologia , Meningioma/epidemiologia , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Estudos Retrospectivos , Turquia/epidemiologia
15.
Clin Neurol Neurosurg ; 207: 106745, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34146841

RESUMO

BACKGROUND: IDH mutation status is an important prognostic marker for glial tumors, which is detected immunohistochemically after surgery. Since this method is invasive, easy and noninvasive magnetic resonance imaging (MRI) methods have recently been used in predicting the IDH mutation status. However, there is currently no standard MRI technique to predict IDH mutation. We analyzed the value of conventional MRI to predict IDH mutation and its effect on survival among grade II-III astrocytoma and oligodendroglioma patients. MATERIAL AND METHODS: We included WHO grade II-III astrocytoma and oligodendroglioma patients who underwent surgery at Bahcesehir University Goztepe Medical Park Hospital. All patients were analyzed according to their immunohistochemical IDH mutation status. Preoperative conventional MRI studies with respect to their location, diffusion restriction, contrast enhancement, calcification and hemorrhage on susceptibility-weighted image (SWI) or T2*- weighted imaging (T2*WI), and T2 -FLAIR mismatch properties were retrospectively assessed by a neuroradiologist. The relation between MRI characteristics and IDH mutation was analyzed using a chi-square test. The sensitivity and specificity of radiological IDH mutation were determined by ROC analysis. The impact of IDH mutation on survival was also analyzed by Kaplan-Meier tests. RESULTS: IDH mutation was found to be positive in 82.5% of tumors histopathologically and 54.4% radiologically. The sensitivity and specificity were 63.8% and 90%, respectively (Area under the curve/AUC = 0.369, p = 0.08). IDH wild gliomas were predominantly diffusion-restricted tumors. IDH mutant tumors were less likely to have contrast enhancement and had lower grades compared to the IDH wild tumors. The median survival time could not be reached and the overall survival was not related to any tumor characteristics or IDH mutation. CONCLUSIONS: Conventional MRI predicts IDH-mutation status in Grade II-III astrocytoma and oligodendroglioma. Contrast-enhancement and restricted diffusion were strongly associated with grade III astrocytoma and oligodendroglioma, IDH-wild type. Location, T2-FLAIR mismatch, and SWI did not contribute to making a decision on the IDH mutation status. There was no significant difference between the survival times of patients and their IDH status.


Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Glioma/diagnóstico por imagem , Isocitrato Desidrogenase/genética , Imageamento por Ressonância Magnética/métodos , Neuroimagem/métodos , Adulto , Idoso , Neoplasias Encefálicas/genética , Feminino , Glioma/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Sensibilidade e Especificidade
16.
Childs Nerv Syst ; 37(2): 649-657, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32382867

RESUMO

Mesenchymal chondrosarcoma is a rare high-grade malignant subtype of chondrosarcoma that is characterized by undifferentiated, round, or spindled mesenchymal cells, interspersed with islands of hyaline cartilage. We report a primary intracranial extra-axial mesenchymal chondrosarcoma in a 16-month-old patient with a review of the literature focusing on intracranial extra-axial MCs with or without skull involvement in pediatric patients, including differential diagnosis. The patient was admitted with a swelling in the right temporooccipital region. There was intracranial extra-dural extension of the mass, which abuts the neural parenchyma without any invasion. A complete tumor resection was performed. Pathological diagnosis was mesenchymal chondrosarcoma. The patient was free of symptoms after surgery.


Assuntos
Neoplasias Encefálicas , Condrossarcoma Mesenquimal , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Criança , Condrossarcoma Mesenquimal/diagnóstico por imagem , Condrossarcoma Mesenquimal/cirurgia , Diagnóstico Diferencial , Humanos , Lactente
17.
Mol Diagn Ther ; 24(3): 327-338, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32274701

RESUMO

BACKGROUND: The presence of mutations in the isocitrate dehydrogenase 1 and 2 genes (IDH1/2) in glioma tumors is correlated with good prognosis upon standard-of-care treatment. Therefore, information on whether the glioma tumor has IDH1/2 mutations could be used in the correct diagnosis and management of glial tumors. The two most common techniques used to detect IDH1/2 mutations, immunohistochemistry (IHC) and Sanger sequencing, are prone to missing these mutations, especially if the tumor cells that carry the mutations constitute a small minority of the tumor itself. OBJECTIVES: We developed and validated a rapid method (3-mismatch-amplification refractory mutation system [3m-ARMS]) that can be used for pre-, intra- and postoperative detection of the most common IDH1/2 mutations in glial tumors with high specificity and sensitivity. We also conducted a comprehensive IDH1/2 mutation analysis in 236 glial tumor samples comparing 3m-ARMS, IHC and Sanger sequencing. METHODS: 3m-ARMS was optimized and validated for the specific and sensitive detection of the most common IDH1 and IDH2 mutations. We then analyzed 236 glial tumor samples for the presence of IDH1/2 mutations using 3m-ARMS, Sanger sequencing and IHC techniques. We then analyzed and compared the results, evaluating the diagnostic and screening potential of 3m-ARMS. RESULTS: Comparison of the three techniques used in the mutation analysis showed that 3m-ARMS-based IDH1/2 mutation detection was superior to IHC and Sanger sequencing-based IDH1/2 mutation detection in terms of accuracy, specificity and sensitivity, especially for tumor samples in which only a small minority of the cell population carried the mutation. 3m-ARMS could detect the presence of femtogram levels of IDH1/2 mutant DNA in DNA samples in which the mutant DNA-to-wild-type DNA ratio was as low as 1:100,000. CONCLUSION: Sanger sequencing and IHC-based methods have shortcomings when detecting mutations in glial tumors so can miss IDH1/2 mutations in glial tumors when used alone without proper modifications. 3m-ARMS-based mutation detection is fast and simple with potential for use as a diagnostic test for the majority of hot spot mutations in IDH1/2 genes. It can detect IDH1/2 mutations within an hour so can be adapted for intraoperative diagnosis.


Assuntos
Análise Mutacional de DNA , Glioma/diagnóstico , Glioma/genética , Isocitrato Desidrogenase/genética , Mutação , Alelos , Biomarcadores Tumorais , Análise Mutacional de DNA/métodos , Humanos , Imuno-Histoquímica , Isocitrato Desidrogenase/metabolismo , Reação em Cadeia da Polimerase/métodos , Sensibilidade e Especificidade
20.
J Cosmet Dermatol ; 19(4): 863-865, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31328868

RESUMO

Nevus comedonicus, a rare congenital hamartoma of the pilosebaceous unit, is characterized by keratotic plugging. It usually occurs after birth and during early childhood. It rarely appears in adulthood. Despite the benign nature of the condition, it usually requires treatment due to aesthetic reasons. Several treatments have been reported in nevus comedonicus, most of them resulting with recurrences. Here, we report a case of nevus comedonicus with adult onset, successfully treated with erbium-doped yttrium aluminum garnet (Er:YAG) laser therapy.


Assuntos
Hamartoma/radioterapia , Lasers de Estado Sólido/uso terapêutico , Terapia com Luz de Baixa Intensidade/instrumentação , Anormalidades da Pele/radioterapia , Doenças Assintomáticas/terapia , Biópsia , Hamartoma/diagnóstico , Hamartoma/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Pele/patologia , Pele/efeitos da radiação , Anormalidades da Pele/diagnóstico , Anormalidades da Pele/patologia , Resultado do Tratamento
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