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1.
Niger J Clin Pract ; 23(10): 1345-1355, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33047690

RESUMO

Background: Several studies have demonstrated an association between obesity, periodontitis, and exercise. Aims: This study aimed to investigate the effects of regular exercise on obese women with periodontal disease, using serum, saliva, and gingival crevicular fluid (GCF) samples. A before-after study design was adopted to evaluate the effects of 12 weeks of regular exercise on obese women grouped according to periodontal status, without a control group (no exercise). The study sample comprised of 15 patients without periodontitis (NP group) and 10 patients with chronic periodontitis (CP group), from whom periodontal parameters were measured and serum, saliva, and GCF samples were collected. Body mass index (BMI), anthropometric measurements, somatotype-motoric tests, and maximal oxygen consumption (VO2max) were recorded at baseline and after exercise. Subjects and Methods: Med Calc was used for statistical analysis. Results: After exercise, a significant decrease in BMI and a significant increase in VO2max were observed in both groups. A significant decrease in probing depth and clinical attachment loss, serum leptin, GCF tumor necrosis factor-α(TNF-α) and leptin, and a significant increase in GCF resistin were observed in the CP group. A significant decrease in serum TNF-α and leptin levels and a significant increase in serum resistin and GCF TNF-α, leptin, resistin, and adiponectin levels were observed in the NP group. Significant correlations between bleeding on probing and levels of interleukin-1ß and leptin in GCF were observed in the CP group. Conclusions: This study showed that regular exercise exerts different impacts with respect to clinical and biochemical aspects of periodontal and systemic conditions in obese women.


Assuntos
Adipocinas/metabolismo , Periodontite Crônica/complicações , Periodontite Crônica/metabolismo , Exercício Físico/fisiologia , Líquido do Sulco Gengival/química , Obesidade/complicações , Saliva/química , Adipocinas/sangue , Adulto , Índice de Massa Corporal , Estudos de Casos e Controles , Periodontite Crônica/sangue , Feminino , Humanos , Interleucina-1beta/sangue , Interleucina-1beta/metabolismo , Pessoa de Meia-Idade , Obesidade/sangue , Obesidade/metabolismo , Bolsa Periodontal/metabolismo , Resistina/sangue , Resistina/metabolismo , Fator de Necrose Tumoral alfa/sangue , Fator de Necrose Tumoral alfa/metabolismo
2.
Scand J Immunol ; 87(3)2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29424453

RESUMO

X-linked agammaglobulinemia is a primary immunodeficiency disorder resulting from BTK gene mutations. There are many studies in the literature suggesting contradictory ideas about phenotype-genotype correlation. The aim of this study was to identify the mutations and clinical findings of patients with XLA in Turkey, to determine long-term complications related to the disease and to analyse the phenotype-genotype correlation. Thirty-two patients with XLA diagnosed between 1985 and 2016 in Pediatric Immunology Department of Hacettepe University Ihsan Dogramaci Children's Hospital were investigated. A clinical survey including clinical features of the patients was completed, and thirty-two patients from 26 different families were included in the study. Getting early diagnosis and regular assessment with imaging techniques seem to be the most important issues for improving the health status of the patients with XLA. Early molecular analysis gives chance for definitive diagnosis and genetic counselling, but not for predicting the clinical severity and prognosis.


Assuntos
Agamaglobulinemia/diagnóstico , Agamaglobulinemia/genética , Anticorpos/sangue , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Proteínas Tirosina Quinases/genética , Adolescente , Adulto , Tirosina Quinase da Agamaglobulinemia , Agamaglobulinemia/patologia , Infecções Bacterianas/imunologia , Criança , Pré-Escolar , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Humanos , Imunoglobulina A/sangue , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Lactente , Estudos Retrospectivos , Turquia , Adulto Jovem
3.
Eur Rev Med Pharmacol Sci ; 18(12): 1770-7, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24992621

RESUMO

OBJECTIVE: The development of secondary brain injury after trauma is known to involve in many cellular mediators. The aim of the study was to evaluate and compare the effects of the use of both methylprednisolone and montelukast on serum and tissue concentrations of NO, malondialdehyde (MDA) levels, superoxide dismutase (SOD) activity, and tissue glutathione peroxidase (GSH-Px) activity in rats with spinal cord injury (SCI). MATERIALS AND METHODS: SCI was induced in Wistar albino rats by dropping a 10 g rod from a 5.0 cm height at T9-10. The 28 rats were randomly divided into four equal groups: montelukast, methylprednisolone, non-treatment and sham groups. Rats were neurologically tested at 24 hours after trauma and spinal cord tissue levels of MDA, SOD, GSH-PX, CAT levels and blood CK, CK-BB, LDH levels were measured. In addition, histopathological changes were also examined. RESULTS: There was a significant improvement in Tarlov scores in methylprednisolone and montelukast administered group compared to the trauma group (p = 0.001). When compared to trauma group, methylprednisolone and montelukast groups had significant differences in MDA (p < 0.05), SOD (p < 0.001), CK-BB (p < 0.001) and LDH (p < 0.05) levels. Histopathologically, no significant changes were observed. CONCLUSIONS: The present study shows effects of montelukast with biochemical and histopathological parameters and compares its effects with those of methylprednisolone for the first time. Our research has shown that montelukast and methylprednisolone have a neuroprotective effect on spinal cord injury.


Assuntos
Acetatos/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Metilprednisolona/uso terapêutico , Fármacos Neuroprotetores/uso terapêutico , Quinolinas/uso terapêutico , Traumatismos da Medula Espinal/tratamento farmacológico , Acetatos/farmacologia , Animais , Anti-Inflamatórios/farmacologia , Creatina Quinase/sangue , Glutationa Peroxidase/metabolismo , L-Lactato Desidrogenase/sangue , Laminectomia , Masculino , Malondialdeído/metabolismo , Metilprednisolona/farmacologia , Fármacos Neuroprotetores/farmacologia , Óxido Nítrico/metabolismo , Quinolinas/farmacologia , Ratos Wistar , Traumatismos da Medula Espinal/sangue , Traumatismos da Medula Espinal/metabolismo , Traumatismos da Medula Espinal/cirurgia , Superóxido Dismutase/metabolismo
4.
Indian J Cancer ; 51(1): 63-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24947099

RESUMO

BACKGROUND: The accurate diagnosis of benign and malign thyroid tumors is very important for the clinical management of patients. The distinction of thyroid papillary carcinoma follicular variant and follicular adenoma can be difficult. AIM: To investigate the alternative methods like immunohistochemistry and exon 15 in the BRAF gene 1799 T/A mutation analyses for distinguishing thyroid tumors. MATERIALS AND METHODS: We applied immunohistochemical markers; CK19, HMWCK, Galectin-3, HBME-1 and Fibronectin and mutant allele-specific PCR amplification technique was used to determine 1799 T/A mutation within the BRAF gene. Formalin-fixed parafin embedded tissues from 45 surgically total resected thyroids, included 26 thyroid papillary carcinoma follicular variant (FV-TPC), 8 Follicular Adenoma (FA), 6 Minimal invasive follicular carcinoma (MIFC) and 5 Follicular Carcinoma (FC). Statistical Analyses Used: Pearson Chi-Square and Kruskal Wallis tests were performed. RESULTS: There was a positive correlation between FV-TPC and HMWCK, CK 19, HBME1, Galectin 3, fibronectin (P < 0.05), but there was no correlation with FV-TPC and BRAF gene mutation (P > 0.05). HBME-1 and CK 19 stained strong and diffuse positive in FV-TPCs but weak and focal in FAs. CONCLUSION: Our study suggests that morphologic features combined with immunohistochemical panel of HMWCK, CK19, HBME-1, Galectin-3 and fibronectin can help to distinguish benign and malign thyroid neoplasms and FV-TPC from follicular adenomas. BRAF gene 1799 T/A mutation has been non-specific but its detection can be a useful tool combined with immunohistochemistry for diagnosing FV-TPC.


Assuntos
Adenocarcinoma Folicular/diagnóstico , Adenoma/diagnóstico , Biomarcadores Tumorais/metabolismo , Carcinoma Papilar/diagnóstico , Mutação/genética , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias da Glândula Tireoide/diagnóstico , Adenocarcinoma Folicular/genética , Adenocarcinoma Folicular/metabolismo , Adenoma/genética , Adenoma/metabolismo , Biomarcadores Tumorais/genética , Carcinoma Papilar/genética , Carcinoma Papilar/metabolismo , Diagnóstico Diferencial , Feminino , Humanos , Técnicas Imunoenzimáticas , Masculino , Prognóstico , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/metabolismo
5.
Eur Rev Med Pharmacol Sci ; 18(7): 992-1000, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24763879

RESUMO

INTRODUCTION: The concern about mobile phone effects is increasing as the number of users increasing too. Different studies have different results, so this topic is still open to discussion. Aim of this report was to investigate the effects of the mobile phones on the Bcl-2 gene and p53 proteins in rat brains. MATERIALS AND METHODS: In the study group of 10 rats; mobile phones that spread EMW at a frequency between 1900-2100 MHz and Specific Absorption Rate range between 0.005 W/kg and 0.288 W/kg (Dialing mode), 0.004 W/kg and 0.029 W/kg (Calling mode) were attached to rat ears for simulating usage in daily life for 7 times a day during 5 minutes (3 seconds dialing mode, 4 minutes and 47 seconds of calling mode) for a four week period. Sham group (n=10) rats were only immobilized without EMW exposure. Another group of rats (n=10) were counted as control without any application. immunohistopathological examination was performed for p53 and Bcl-2 expression. RESULTS: Immunohistopathological examinations revealed that the samples in the study group had more p53 and Bcl-2 positive stained cells and they were stained denser. In both evaluations, these differences between the study and control group were found statistically significant (p < 0.003); In Bcl-2 evaluation statistically significant difference was found between study and sham group to (p < 0.005); however, the p53 evaluation between the study and the sham group did not show any statistically significant difference (p > 0.005). CONCLUSIONS: Our results showed that the electro-magnetic waves emitted by the mobile phones may have effect on apoptosis. Besides, obtained data revealed that more realistic application of mobile phones during experiments is more important as expected.


Assuntos
Apoptose , Encéfalo/metabolismo , Telefone Celular , Campos Eletromagnéticos , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Proteína Supressora de Tumor p53/metabolismo , Animais , Masculino , Ratos Wistar
6.
Osteoporos Int ; 25(3): 1181-5, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24136106

RESUMO

A 61-year-old man was referred to our outpatient clinic because of severe bilateral upper leg pain for 1 year. On admission, the patient had anemia and a high serum alkaline phosphatase level. Lumbar and femoral neck T-scores were +10.5 and +9.6, respectively. His radius 33 % T-score was -2.8. Plain radiographs of the patient's pelvis, spine, and long bones revealed osteosclerosis. The patient had previously undergone a prostate biopsy, which showed prostate adenocarcinoma (Gleason score 3 + 4). The patient's total and free prostate-specific antigen were very high. According to previous records, the patient did not have anemia, and his serum alkaline phosphatase (ALP) level was normal. An abdominal radiograph taken 2 years earlier revealed a normal spine and pelvic bone. Bone scintigraphy yielded nontypical findings for prostate cancer metastasis. Computed tomography of the patient's thorax and abdomen showed heterogeneous sclerotic areas in all bones consistent with prostate cancer metastasis. A bone marrow biopsy disclosed disseminated carcinomatosis of bone marrow in association with prostate cancer. Clinicians should be aware of the possibility of prostate malignancy as a cause of high bone mineral density (BMD), even in the absence of typical localized findings on plain radiographs.


Assuntos
Adenocarcinoma/secundário , Neoplasias da Medula Óssea/secundário , Osteosclerose/etiologia , Neoplasias da Próstata/diagnóstico , Absorciometria de Fóton , Adenocarcinoma/complicações , Adenocarcinoma/diagnóstico , Neoplasias da Medula Óssea/complicações , Neoplasias da Medula Óssea/diagnóstico por imagem , Colo do Fêmur/fisiopatologia , Humanos , Vértebras Lombares/fisiopatologia , Masculino , Pessoa de Meia-Idade , Osteosclerose/diagnóstico por imagem , Osteosclerose/fisiopatologia
7.
J BUON ; 18(4): 886-90, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24344013

RESUMO

PURPOSE: Triple negative (TN) breast carcinomas (estrogen receptor/ER, progesterone receptor/PR and HER-2/neu negative) constitute 15-25% of all breast carcinomas and have been correlated with aggressive behavior and poor prognosis. Our aim was to describe and characterize the immunophenotype of these tumors in a group of patients from Turkey. METHODS: We used the immunohistochemical markers CK5/6, CK14, EGFR, E-cadherin, p53 and androgen receptor. Formalin-fixed, paraffin-embedded tissues from 51 breast carcinoma patients (36 TN and 15 non TN) were included into this study. RESULTS: The mean values of the distribution of immunohistochemical markers in TN vs non-TN groups were as follows: CK5/6 78.4 vs 5.3%, CK14 84.8 vs 8%, EGFR 87.2 vs 8%, E-cadherin 96.9 vs 53.2%, p53 87.3 vs 7.3% and androgen receptor 89.5 vs 33.3% (all p-values<0.001). CK5/6 stained significantly different in the grade 2 and 3 cases (p=0.035) in the TN group.The other markers demonstrated no significant differences between grades. CONCLUSION: TN breast carcinomas in Turkish patients express basal cytokeratins, and have high levels of p53 compared to non-TN breast carcinomas.


Assuntos
Biomarcadores Tumorais/análise , Carcinoma/química , Imuno-Histoquímica , Neoplasias de Mama Triplo Negativas/química , Antígenos CD , Caderinas/análise , Carcinoma/patologia , Receptores ErbB/análise , Feminino , Fixadores , Formaldeído , Humanos , Queratinas/análise , Inclusão em Parafina , Valor Preditivo dos Testes , Prognóstico , Receptores Androgênicos/análise , Estudos Retrospectivos , Fixação de Tecidos/métodos , Neoplasias de Mama Triplo Negativas/patologia , Proteína Supressora de Tumor p53/análise , Turquia
8.
Indian J Cancer ; 50(3): 164-9, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24061453

RESUMO

BACKGROUND: Liposarcomas are among the most common soft tissue sarcomas in adulthood. AIM: The purpose of the study is to perform a histopathologic typing according to World Health Organization (WHO) classification of cases diagnosed with liposarcoma and to examine the difference of p53 and MDM2 expressions. MATERIALS AND METHODS: The haematoxylin-eosin stained sections of 48 subjects enrolled in the study have been evaluated on the basis of the WHO classification for liposarcoma and sections stained using p53 and MDM2. STATISTICAL ANALYSIS USED: Chi-Square test was applied. RESULTS: 20 subjects were diagnosed with well-differentiated liposarcoma (WLS), 16 myxoid liposarcoma (ML), 7 pleomorphic liposarcoma (PL), and 5 de-differentiated liposarcoma (DLS). The number of cases stained positive with MDM2 and p53 were positive correlated in all subjects (P = 0.02). p53 and MDM2 positivity increased in high grade tumors (P = 0.01). CONCLUSION: p53 and MDM2 immuno-reactivity was found to be potentially useful in liposarcoma diagnosis but a definitive implication would be rather unhealthy due to the small number of cases in our study.


Assuntos
Biomarcadores Tumorais/análise , Lipossarcoma/metabolismo , Proteínas Proto-Oncogênicas c-mdm2/biossíntese , Neoplasias de Tecidos Moles/metabolismo , Proteína Supressora de Tumor p53/biossíntese , Feminino , Humanos , Imuno-Histoquímica , Lipossarcoma/classificação , Lipossarcoma/diagnóstico , Masculino , Proteínas Proto-Oncogênicas c-mdm2/análise , Neoplasias de Tecidos Moles/classificação , Neoplasias de Tecidos Moles/diagnóstico , Proteína Supressora de Tumor p53/análise , Organização Mundial da Saúde
9.
Hum Exp Toxicol ; 32(4): 441-3, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22918066

RESUMO

Septic arthritis and toxic synovitis are clinical conditions that can develop in association with various causes and involve symptoms such as pain, swelling, redness, sensitivity and restricted movement in the joint. A 42-year-old male presented to the emergency department with severe joint pain and nausea after injecting a 1-cc mixture of turpentine oil, eucalyptus oil, mint oil and thyme oil, which he purchased from an alternative medicine store, into his right knee with a syringe because of chronic knee pain. Ballottement and sensitivity were present at physical examination. Knee puncture yielded 60 cc of cloudy fluid. There was no growth in the material obtained. Improvement was observed following subsequent arthroscopic washing of the joint space and IV antibiotherapy, and the patient was discharged on day 21 of hospitalization with oral antibiotic and analgesic therapy. Intra-articular injection of foreign bodies into the knee joint space for therapeutic purposes, as in this case report, is a very rare occurrence, but may lead to potentially complicated arthritis.


Assuntos
Artrite/induzido quimicamente , Injeções Intra-Articulares/efeitos adversos , Óleos Voláteis/efeitos adversos , Adulto , Artrite/diagnóstico por imagem , Eucalyptus , Humanos , Masculino , Mentha , Óleos Voláteis/administração & dosagem , Fitoterapia/efeitos adversos , Radiografia , Thymus (Planta) , Terebintina
10.
Hum Exp Toxicol ; 31(7): 726-33, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22318306

RESUMO

AIM: Oxidative stress has been implicated as a potential responsible mechanism in the pathogenesis of vancomycin (VCM)-induced renal toxicity. Therefore, we aimed to investigate the protective effect of thymoquinone (TQ) against VCM-induced nephrotoxicity by tissue oxidant/antioxidant parameters and histological changes in rats. MATERIALS AND METHODS: Wistar albino rats were randomly separated into four groups consisting of seven rats per group. The groups had normal saline (control group), VCM, VCM and TQ and TQ, respectively. VCM was injected intraperitoneally at a dose of 200 mg/kg and continued at 12-h intervals for 7 days. TQ was injected intraperitoneally at a dose of 10 mg/kg and continued at 24 h intervals for 8 days. Animals were killed and blood samples were analyzed for the levels of serum blood urea nitrogen (BUN) and creatinine (Cr). Kidney specimens were analyzed for levels of malondialdehyde (MDA) and activities of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) as well as for histopathological changes. RESULTS: We found that the levels of serum BUN, Cr and kidney tissue MDA were increased in the VCM group. Activities of SOD and GSH-Px in kidney tissue were decreased. TQ administration ameliorated significantly these changes. CONCLUSION: These results indicate that the TQ produces a protective mechanism against VCM-induced nephrotoxicity and suggest a role of oxidative stress in pathogenesis.


Assuntos
Antibacterianos/toxicidade , Benzoquinonas/farmacologia , Rim/efeitos dos fármacos , Substâncias Protetoras/farmacologia , Vancomicina/toxicidade , Animais , Nitrogênio da Ureia Sanguínea , Creatinina/sangue , Glutationa Peroxidase/metabolismo , Rim/metabolismo , Rim/patologia , Masculino , Malondialdeído/metabolismo , Ratos , Ratos Wistar , Superóxido Dismutase/metabolismo
11.
Artigo em Inglês | MEDLINE | ID: mdl-21721378

RESUMO

Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder caused by inherited defects in the nicotinamide adenine dinucleotide phosphate oxidase complex. The neutrophils of patient with CGD can ingest bacteria normally, but the oxidative processes that lead to superoxide anion formation, hydrogen peroxide production, nonoxidative pathway activation, and bacterial killing are impaired. Serious infections result from microorganisms that produce catalase. Immunoglobulin levels of patients with CGD are usually normal or elevated. We describe a patient with CGD associated with hypogammaglobulinemia, an unusual co-occurrence.


Assuntos
Agamaglobulinemia/etiologia , Doença Granulomatosa Crônica/diagnóstico , Agamaglobulinemia/terapia , Antibacterianos/uso terapêutico , Antifúngicos/uso terapêutico , Infecções Bacterianas/tratamento farmacológico , Infecções Bacterianas/etiologia , Candidíase Vulvovaginal/tratamento farmacológico , Candidíase Vulvovaginal/etiologia , Imunodeficiência de Variável Comum/complicações , Imunodeficiência de Variável Comum/diagnóstico , Consanguinidade , Suscetibilidade a Doenças , Feminino , Doença Granulomatosa Crônica/sangue , Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/imunologia , Humanos , Hospedeiro Imunocomprometido , Imunoglobulinas Intravenosas/uso terapêutico , Contagem de Linfócitos , Subpopulações de Linfócitos/patologia , Puberdade Tardia/etiologia , Recidiva , Adulto Jovem
12.
Int J Immunogenet ; 38(3): 209-13, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21199394

RESUMO

Ataxia-telangiectasia (AT) is a complex disorder characterized by progressive neurodegeneration, immunodeficiency, hypersensitivity to DNA damaging agents and cancer predisposition. Clinical heterogeneity is observed even among the affected siblings with AT. Mutations of the ataxia-telangiectasia mutated (ATM) gene are responsible for AT. H2AX, an essential histone protein, is phosphorylated by ATM in response to double-strand breaks, and H2AX-deficient mice share some clinical and laboratory findings with AT. Therefore, we sought a possible modifier effect of H2AX gene on various clinical features in a group of patients with AT and healthy controls. We performed sequence analysis of H2AX gene in 81 patients with AT, and in 51 of them, we analysed methylation. We examined H2AX gene expression in 25 patients. We investigated 48 healthy individuals as a control group. We did not detect any mutation or sequence variation in the H2AX gene, or any altered methylation pattern in any of the patients. Although H2AX gene expression was markedly increased (2.5- to 11.8-fold) in five of 25 patients, and slightly increased (1.5- to 2.4-fold) in four patients, the correlations between H2AX gene expression and the evaluated clinical features of the patients were not significant. Other potential modifier genes that might be scrutinized in AT patients include p53, 53BP1 and TIP60, as well as the genes that effect mitochondrial function and the oxidative response.


Assuntos
Ataxia Telangiectasia/genética , Histonas/genética , Fenótipo , Adolescente , Adulto , Criança , Pré-Escolar , Metilação de DNA/genética , Expressão Gênica/genética , Humanos , Adulto Jovem
13.
Eur J Clin Invest ; 39(10): 942-51, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19624736

RESUMO

BACKGROUND: One of the rarest forms of autosomal recessive chronic granulomatous disease (AR-CGD) is attributable to mutations in the NCF2 gene, which encodes the polypeptide p67(phox), a key cytoplasmic protein in the phagocyte NADPH oxidase system. NCF2 is localized on chromosome 1q25, encompasses 40 kb and contains 16 exons. MATERIALS AND METHODS: We report here the clinical and molecular characterization of six patients with CGD from six consanguineous Turkish families. The ages of the five female patients were between 3 and 22 years and a male patient was 2 years old; all patients showed clear clinical symptoms of CGD. RESULTS: The mothers of the patients did not show a bimodal histogram pattern specific for X-CGD in the dihydrorhodamine-1,2,3 (DHR) assay. Moreover, p67(phox) protein expression was not detectable using flow cytometric analysis of the patients' neutrophils except in those from patient 6, which had a diminished expression. Mutation analysis of NCF2 revealed four different homozygous mutations: a novel nonsense mutation in exon 3 c.229C>T, p.Arg77X; a novel missense mutation in exon 4 c.279C>G, p.Asp93Glu; a nonsense mutation in exon 4 c.304C>T, p.Arg102X; and a novel missense mutation in exon 6 c.605C>T, p.Ala202Val. The parents were found to be heterozygotes for these mutations. CONCLUSIONS: The prevalence of NCF2 mutant families is approximately 15% in our series of 40 CGD families. This high incidence of A67 CGD in Turkey is undoubtedly caused by the high incidence of consanguineous marriages. We found three new mutations in NCF2 and one previously described. These are presented together with an overview of all NCF2 mutations now known.


Assuntos
Doença Granulomatosa Crônica/genética , Mutação de Sentido Incorreto/genética , NADPH Oxidases/genética , Adolescente , Criança , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA , Feminino , Genes Recessivos , Doença Granulomatosa Crônica/sangue , Humanos , Masculino , NADPH Oxidases/sangue , Neutrófilos/metabolismo , Linhagem , Turquia , Adulto Jovem
14.
Eur J Clin Invest ; 39(4): 311-9, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19292887

RESUMO

BACKGROUND: One of the rarest forms of autosomal recessive chronic granulomatous disease (AR-CGD) is attributable to mutations in the CYBA gene, which encodes the alpha polypeptide of cytochrome b(558), (also known as p22-phox), a key transmembrane protein in the phagocyte NADPH oxidase system. This gene is localized on chromosome 16q24, encompasses 8.5 kb and contains six exons. MATERIALS AND METHODS: We report here the clinical and molecular characterization of 12 AR-CGD patients from 10 consanguineous, unrelated Turkish families with clinical CGD and positive family history. The ages of the six male and six female patients were between 1and 18 years. Before mutation analysis, subgroup analysis of patients was made by flow cytometry with antibodies against NADPH-oxidase components and with the DHR assay (flow cytometric assay of NADPH oxidase activity in leucocytes). RESULTS: Mutation analysis of CYBA showed six different mutations: a frameshift insertion in exon 3 (C after C166); a missense mutation in exon 2 (p.Gly24Arg), a splice-site deletion in intron 1 (4-bp deletion +4_+7 AGTG), a novel nonsense mutation in exon 6 (p.Cys113X), a novel large deletion of exons 3-6 and a novel 1-bp deletion in exon 6 (c.408delC). All mutations were present in homozygous form and all parents investigated were found to be heterozygotes for these mutations. CONCLUSIONS: In our series of 40 CGD families, approximately 25% of the families have p22-phox defects, with six different mutations, including three novel mutations. The high rate of consanguineous marriages seems to be the underlying aetiology.


Assuntos
Doença Granulomatosa Crônica/genética , Mutação/genética , NADPH Oxidases/genética , Adolescente , Criança , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA/métodos , Feminino , Genes Recessivos , Humanos , Lactente , Masculino , Linhagem , Turquia
15.
Eur J Gynaecol Oncol ; 30(6): 640-5, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-20099494

RESUMO

OBJECTIVE: To evaluate the expression of cyclooxygenase (COX)-2 in ovarian serous carcinomas (OSC) and its correlation with microvessel density (MVD), nm23 expression, clinicopathologic prognostic factors and survival. METHODS: Specimens from 44 patients with OSC were evaluated by immunohistochemistry for COX-2 and nm23 expression. Tumor MVD was assessed with CD34 immunostaining. The survival data of the patients were found from data files. RESULTS: 40 specimens (90.1%) showed positive COX-2 staining. Patients with high COX-2-expressed tumors had shorter overall survival, but it was not statistically significant. No correlation was found between COX-2 expression and clinicopathologic variables. There was no significant correlation between COX-2 and nm23 expression or MVD. CONCLUSIONS: COX-2 is frequently expressed in OSC. Although we could not confirm the prognostic significance of Cox-2 expression in the present cohort of OSC patients, the p value for overall survival was just slightly greater than alpha, and this result can be referred as almost significant. We considered that the limited number of cases in our study might affect the statistical analysis of our results. Further studies involving a larger number of patients are needed to clarify the prognostic significance of COX-2 expression in ovarian carcinomas.


Assuntos
Ciclo-Oxigenase 2/metabolismo , Cistadenoma Seroso/metabolismo , Nucleosídeo NM23 Difosfato Quinases/metabolismo , Neovascularização Patológica/metabolismo , Neoplasias Ovarianas/metabolismo , Adulto , Idoso , Feminino , Humanos , Estimativa de Kaplan-Meier , Microvasos/patologia , Pessoa de Meia-Idade , Análise de Sobrevida
16.
Clin Anat ; 18(1): 10-4, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15597374

RESUMO

The cranio-orbital foramen, a foramen in the lateral wall of the orbit, contains an anastomosis between the anterior branch of the middle meningeal artery and the lacrimal artery. Previous workers have speculated that the groove starting either from the cranio-orbital foramen or the lateral extremity of the superior orbital fissure contains the anastomotic artery. We investigated the cranio-orbital foramen and the groove on the lateral wall of the orbit in a series of 170 dried adult human skulls, and the course of the orbital branch of the middle meningeal artery in 74 specimens from 37 cadavers. We observed the cranio-orbital foramen in 141 skulls (82.9%). It was unilateral in 55 (32.4%) and bilateral in 86 (50.6%) skulls. The groove on the lateral wall of the human orbit was observed in 122 skulls (71.8%). It was unilateral in 40 (23.5%) and bilateral in 82 (48.2%). The groove on the lateral wall of the orbit started from the cranio-orbital foramen in 20 skulls (11.8%). The orbital branch of the middle meningeal artery was found in 48 cadaveric specimens (64.9%): 32 (43.2%) passed through the cranio-orbital foramen and 12 (16.2%) passed through the superior orbital fissure. In four specimens (5.4%), orbital branches of the middle meningeal artery passed through both the superior orbital fissure and the cranio-orbital foramen. The anatomy of the cranio-orbital foramen and the course of the orbital branch should be well known by surgeons reconstructing the anterior base of the skull, the orbit after orbital base surgery, and during excision of meningiomas.


Assuntos
Artérias Meníngeas/anatomia & histologia , Órbita/anatomia & histologia , Cadáver , Humanos , Órbita/irrigação sanguínea , Fluxo Sanguíneo Regional , Base do Crânio/anatomia & histologia , Osso Esfenoide/anatomia & histologia
17.
Surg Radiol Anat ; 26(4): 263-7, 2004 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15205917

RESUMO

The aim of this study was to examine the relationships of the surgical landmarks on the lateral surface of the mastoid bone with the landmarks in a deeper location. Simple mastoidectomy was carried out without drilling over the linea temporalis inferior (LTI) on 20 adult temporal bones. The suprameatal spine, i.e., Henle spine (HS), variants were noted. Morphometric measurements were performed between these surgical landmarks, and their variations with pneumatization or HS types were evaluated. Three types of HS were identified: triangular, crest, absent. The HS-lateral semicircular canal distance was 15 mm on average and longer in bones with a triangular HS than a crest type HS (16.4 vs. 14.3 mm). The LTI was found to be located on average 4.7 mm inferior to the middle fossa dural plate (MFD). The LTI-MFD distance had a tendency to be longer in bones without an HS than with a crest type of HS (5.9 vs. 3.9 mm). Chorda tympani emerged from the facial nerve at the stylomastoid foramen in five specimens (25%). This anatomical organization was not correlated with the type of HS. Korner's septum (KS) was identified in nine bones (45%). It was present in eight of 16 (50%) bones with good pneumatization. No tendency for the existence of KS was found for any specific type of HS. This study confirms that the mastoid antrum is located 15 mm deep to the lateral surface of the mastoid bone. It should be expected to be longer in bones with a triangular HS. In addition, the MFD is located on average 5 mm above the LTI, which could be useful information for beginners or inexperienced surgeons. The ear surgeon should anticipate that the MFD might be longer in bones without an HS.


Assuntos
Processo Mastoide , Adulto , Cadáver , Feminino , Humanos , Masculino , Canais Semicirculares
18.
Surg Radiol Anat ; 21(4): 255-60, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10549082

RESUMO

The microsurgical anatomy of the cavernous sinus of 54 Turkish adult cadaveric heads (108 specimens) was examined to provide data for major topographic aspects and morphometry of the region, which is of special clinical importance for neurosurgeons. Significant findings were: 1) the abducent nerve in the cavernous sinus was observed as one rootlet in most of the specimens (78%), two rootlets in 14%, three in 5% and four in 3% of the specimens; 2) the anterior inferior venous space was dominant in 58%, the posterior superior venous space in 16%, and an intermediate type in 29% of the specimens; 3) the artery of the inferior cavernous sinus originated from the internal carotid artery (ICA) in 74% of the cases, and 4) the dorsal meningeal artery originated from the ICA in 6 (5.5%) of the specimens.


Assuntos
Artéria Carótida Interna/anatomia & histologia , Seio Cavernoso/anatomia & histologia , Nervos Cranianos/anatomia & histologia , Adulto , Cadáver , Dissecação , Feminino , Humanos , Masculino , Valores de Referência , Sensibilidade e Especificidade
19.
Surg Radiol Anat ; 21(3): 181-5, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10431331

RESUMO

Topographic landmarks for the superior orbital fissure are useful for general orientation and approach to the middle fossa, cavernous sinus and orbit. In this study, the microsurgical anatomy and morphometry of the superior orbital fissure and its related structures were examined in 57 disarticulated sphenoid bones, 102 skull bases and 58 adult cadaveric heads. The superior orbital fissure was observed in nine different shapes based on the classification of Sharma et al. (1988), and the most frequently observed was Type VI. The distance from the superomedial to the superolateral edge was measured as 17.3 +/- 3.4 mm on the right side and 16.9 +/- 2.9 mm on the left side, and from the superolateral to the inferior edge as 20.8 +/- 3.9 mm on the right side and 20.1 +/- 3.8 mm on the left side. The distance from the superomedial to the inferior edge of the fissure was measured as 9.5 +/- 2.2 mm on the right side and 9 +/- 2.4 mm on the left side. No right-left differences were observed for these measurements. Measurements regarding the relationship of the oculomotor, trochlear and abducent nerves, the ophthalmic branch of the trigeminal nerve and the superior orbital vein were performed and topographic aspects of the superior orbital fissure region were described.


Assuntos
Nervo Abducente/anatomia & histologia , Nervo Oculomotor/anatomia & histologia , Órbita/anatomia & histologia , Nervo Trigêmeo/anatomia & histologia , Nervo Troclear/anatomia & histologia , Veias/anatomia & histologia , Adulto , Antropometria , Feminino , Humanos , Masculino , Base do Crânio/anatomia & histologia , Osso Esfenoide/anatomia & histologia
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