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1.
Immunol Invest ; 46(1): 10-21, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27611810

RESUMO

In this study, we aimed to explore the association among gene variants of five cytokines, tumor necrosis factor alpha (TNF-α), transforming growth factor beta-1 (TGF-ß1), interferon gamma (IFN-γ), interleukin-6 (IL-6), and interleukin-10 (IL-10), and clinical parameters and prognosis in patients with multiple myeloma (MM) treated with novel therapeutic drugs in Turkish population for the first time except TNF-α. We analyzed five cytokine genes in 113 cases with MM and 113 healthy controls. Cytokine genotyping was performed by the polymerase chain reaction-sequence-specific primer method (PCR-SSP). AG genotype associated with high expression in TNF-α gene (-308) variant was found to be significantly higher (p = 0.019), and GG genotype associated with low expression in TNF-α gene (-308) variant was significantly lower in MM group as compared with controls (p = 0.012). IFN-γ (+874) variant TT genotype was increased (p = 0.037), and AA genotype was decreased (p = 0.002) in MM group in contrast to controls. IFN-γ (+874) T allele was higher in MM patients compared with controls (OR = 1.985, p = 0.000), while A allele was significantly lower (OR = 0.5037, p = 0.0005). Multivariate analysis revealed that factors associated with 5-year overall survival (OS) were only IPI III (RR = 1.630, p = 0.018) and thrombocytopenia (RR = 2.207, Cox p = 0.021), while 5-year event-free survival (EFS) was associated with IPI III (RR = 1.524, p = 0.022), thrombocytopenia (RR = 2.902, p = 0.002), APSCT treatment (RR = 1.729, p = 0.035), and female gender (RR = 0.435, p = 0.002) with negative prognostic values. Our results suggested that TNF-α gene (-308) AG genotype and IFN-γ (+874) TT genotype and T allele may have a role on MM, while other cytokines were not associated with the risk of MM.


Assuntos
Interferon gama/genética , Interleucina-10/genética , Interleucina-6/genética , Mieloma Múltiplo/genética , Trombocitopenia/genética , Fator de Crescimento Transformador beta1/genética , Fator de Necrose Tumoral alfa/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Mieloma Múltiplo/mortalidade , Fatores Sexuais , Análise de Sobrevida , Trombocitopenia/mortalidade , Turquia
2.
Clin Exp Dermatol ; 41(4): 346-51, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26299703

RESUMO

BACKGROUND: microRNAs (miRNAs) are single-stranded, noncoding RNA molecules. Given the vast regulatory potential of miRNAs and their often tissue-specific and disease-specific expression patterns, miRNAs are being assessed as possible biomarkers to aid diagnosis and prediction of different types and stages of cancers, including skin cancer. Basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are the most common forms of nonmelanoma skin cancer (NMSC). BCC originates from the basal layer of the epidermis, while SCC arises from epidermal keratinocytes or from the dermal appendages. Although NMSCs are currently the most common types of malignancies, both BCC and SCC have a better than 95% cure rate if detected early. AIM: To identify plasma miRNAs suitable for early detection of NMSC. METHODS: Expression profiles of 741 miRNAs were evaluated using high-throughput real-time quantitative PCR from plasma samples in 42 patients with NMSC and 282 healthy controls (HCs). RESULTS: Our results demonstrated that in patients with NMSC, compared with HCs, expression levels of miR-30e-3p, miR-145-5p, miR-186-5p and miR-875-5p were significantly (P < 0.05) upregulated, while those of miR-19a-3p, miR-25-3p, miR-30a-5p, miR-451 and miR-576-3p were significantly downregulated. CONCLUSION: Our study suggests that the miRNAs with significant changes in expression (miR-19a-3p, miR-25-3p, miR-30a-5p, miR-145-5p and miR-186-5p) could serve as novel noninvasive biomarkers for detection of NMSC.


Assuntos
Carcinoma Basocelular/diagnóstico , Carcinoma de Células Escamosas/diagnóstico , Detecção Precoce de Câncer/métodos , MicroRNAs/sangue , Biomarcadores Tumorais , Feminino , Perfilação da Expressão Gênica , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Cutâneas
3.
Cytopathology ; 25(3): 185-9, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24024935

RESUMO

OBJECTIVES: We aimed to determine whether the presence of Hürthle cells altered the distribution of categories in the Bethesda system for reporting thyroid cytopathology, or the expected neoplastic and malignant outcome. METHODS: Fine needle aspiration (FNA) cytology reports of Hürthle cells in a 2-year period were evaluated. The distribution of Bethesda system categories and the outcome at partial or complete thyroidectomy were compared for FNAs with and without Hürthle cells. RESULTS: Of 895 adequate FNAs with Hürthle cells, 764 (85.4%) were classified as benign, 86 (9.6%) as atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS), 32 (3.6%) as follicular neoplasm/suspicious for follicular neoplasm (FN/SFN), 12 (1.3%) as suspicious for malignancy (SFM) and one (0.1%) as malignant. Of 10 359 adequate FNAs without Hürthle cells, 9707 (93.7%) were classified as benign, 412 (4.0%) as AUS/FLUS, 77 (0.7%) as FN/SFN, 93 (0.9%) as SFM and 70 (0.7%) as malignant. The distribution of categories in FNAs with and without Hürthle cells was significantly different (P < 0.001) as a result of a decrease in benign and an increase in AUS/FLUS and FN/SFN categories. Among 128 patients with and 582 without Hürthle cells undergoing surgery, the overall neoplastic and malignancy rates were higher in the former than in the latter group (27.3% versus 14.9%, P < 0.001; 21.1% versus 11.7%, P = 0.003; respectively). Although neoplastic and malignant rates were higher in the group with than without Hürthle cells in all categories, the differences were only significant for a neoplastic outcome of benign cytology (15.1% versus 6.0%, P = 0.0013) and a malignant outcome of FN/SFN cytology (63.6% versus 21.9%, P = 0.0108). CONCLUSIONS: We found that the rates of AUS/FLUS and FN/SFN categories in the Bethesda system were higher when Hürthle cells were present. After surgery, neoplastic and malignant outcomes were significantly higher in the Hürthle cell group.


Assuntos
Adenocarcinoma Folicular/diagnóstico , Biópsia por Agulha Fina , Citodiagnóstico , Neoplasias da Glândula Tireoide/diagnóstico , Adenocarcinoma Folicular/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Células Oxífilas/patologia , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/patologia
4.
Perfusion ; 29(1): 70-4, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23863488

RESUMO

BACKGROUND: The deep hypothermic circulatory arrest (DHCA) technique has been used in aortic arch and isthmus hypoplasia for many years. However, with the demonstration of the deleterious effects of prolonged DHCA, selective cerebral perfusion (SCP) has started to be used in aortic arch repair. For SCP, perfusion via the innominate artery route is generally preferred (either direct innominate artery cannulation or re-routing of the cannula in the aorta is used). Herein, we describe our technique and the result of arch reconstruction in combination with selective cerebral and myocardial perfusion (SCMP) and short-term total circulatory arrest (TCA) (5-10 min) through ascending aortic cannulation. METHODS: Thirty-seven cases with aortic arch and isthmus hypoplasia accompanying cardiac defects were operated on with SCMP and short TCA in Baskent University Istanbul Research and Training Hospital between January 2007 and Sep 2012. There were 17 cases with ventricular septal defect (VSD)-coarctation with aortic arch hypoplasia (CoAAH), 4 cases of transposition of the great arteries-VSD-CoAAH, 4 cases of Taussing Bing Anomaly-CoAAH, 2 cases complete atrioventricular canal defect-CoAAH, 3 cases single ventricle-CoAAH, 3 cases of type A interruption-VSD, 2 subvalvular aortic stenosis-CoAAH and 2 cases of isolated CoAAH. The aorta was cannulated in the middle of the ascending aorta in all cases. The cross-clamp was applied to the aortic arch distal to either the innominate artery or the left carotid artery. In addition, a side-biting clamp was applied to the descending aorta. The aorta between these two clamps was reconstructed with gluteraldehyde-treated autogeneous pericardium, using SCMP. The proximal arch and distal ascending aorta reconstructions were carried out under short TCA. RESULTS: The mean age of the patients was 2.5 ± 2 months. The mean cardiopulmonary bypass and cross-clamp times were 144 ± 58 and 43 ± 27 minutes, respectively. The mean SCMP and descending aorta ischemia times were 22.6 ± 4.8 and 27 ± 6.3 minutes, respectively. Mean TCA time was 7.6 ± 2.1 minutes (min: 4, max 10 min). The mean in-hospital stay time was 8.6 ± 1.9 days. None of the cases operated with this technique had neurological defects. The mortality rate was 2.7% (1 patient). CONCLUSION: SCMP with aortic cannulation and short TCA (under 10 minutes) in aortic reconstruction is safe and practical in this high-risk patient group.


Assuntos
Aorta Torácica/cirurgia , Parada Circulatória Induzida por Hipotermia Profunda/métodos , Cardiopatias Congênitas/cirurgia , Hipotermia Induzida/métodos , Aorta Torácica/anormalidades , Cateterismo , Circulação Cerebrovascular , Pré-Escolar , Humanos , Perfusão/métodos , Procedimentos de Cirurgia Plástica/métodos
5.
J Obstet Gynaecol ; 34(7): 620-4, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24911418

RESUMO

MicroRNA (miRNA) is an abundant class of small non-coding RNAs that act as gene regulators. Recent studies have suggested that miRNA deregulation is associated with the initiation and progression of human cancer. However, information about ovarian cancer-related miRNA is mostly limited to tissue miRNA. The aim of this study was to find specific profiles of plasma-derived miRNAs of ovarian cancer. In this present study, the expression profiles of 740 miRNAs in plasma from 18 patients and 24 healthy women subjects were evaluated using microfluidic based multiplex qRT-PCR. Our results demonstrated that expression levels of eight miRNAs were significantly upregulated in patients with ovarian cancer when compared with a control group (p < 0.05). Expression levels of four miRNAs were found significantly downregulated in patients with ovarian cancer (p < 0.05). In addition, 10 miRNAs were expressed only in the ovarian cancer group and miR-138-5p of these miRNAs is ovarian specific. In conclusion, our study suggests that detecting these ovarian cancer specific miRNAs in plasma might serve as novel non-invasive biomarkers for ovarian cancer.


Assuntos
MicroRNAs/sangue , Neoplasias Ovarianas/sangue , Adulto , Idoso , Biomarcadores/sangue , Estudos de Casos e Controles , Feminino , Perfilação da Expressão Gênica , Humanos , Pessoa de Meia-Idade
6.
Cytopathology ; 24(6): 385-90, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23078633

RESUMO

OBJECTIVE: To report our experience of atypia of undetermined significance (AUS)/follicular lesion of undetermined significance (FLUS) rate and outcome. METHODS: Among 7658 patients with 19 569 nodules, 524 (2.7%) nodules were diagnosed as AUS/FLUS on fine needle aspiration (FNA). After exclusion of patients with simultaneous nodules that were suspicious for follicular neoplasm or malignancy or that were malignant, 368 (4.8%) patients were diagnosed as AUS/FLUS. The outcome of 146 patients who had undergone surgery or repeated fine needle aspirate at the time of preparation of this study was evaluated. The original FNAs were matched to repeated FNAs and thyroidectomy or diagnostic lobectomy specimens. RESULTS: Seventy-two (19.6%) of the 368 patients had directly undergone surgery, either a lobectomy or a thyroidectomy: of these, 27 (37.5%) had neoplastic nodules (21 were malignant). Seventy-four (20.1%) of the 368 patients had repeat FNA. On second FNA, 47 of 74 (63.5%) were benign, three were suspicious for follicular neoplasm, one was malignant and 23 (31.1%) were non-diagnostic. Four patients had a third FNA: two were AUS/FLUS, one was malignant and one non-diagnostic. One patient had a fourth FNA, which was diagnosed as AUS/FLUS. Sixteen (21.6%) of 74 patients with repeat FNA had surgery: three of these had neoplastic nodules (two were malignant). Overall, 88 of the 368 (23.9%) patients had a thyroidectomy of which 30 (34.1%) were neoplastic and 23 (26.1%) malignant. The neoplastic rate for patients who were once diagnosed with AUS/FLUS was 8.2% and the malignancy rate 6.3%. The malignancy rate for patients on follow-up at the time we prepared the study was 15.7% (23/146); 222 remained on follow-up without surgery or repeat FNA or were managed elsewhere. CONCLUSIONS: Although in this category repeat FNA is expected rather than excision, we suggest evaluation of all AUS/FLUS patients in multidisciplinary meetings to decide management and recommend follow-up of all patients with this diagnosis.


Assuntos
Adenocarcinoma Folicular/patologia , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/patologia , Adenocarcinoma Folicular/diagnóstico , Adenocarcinoma Folicular/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha Fina/métodos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Glândula Tireoide/cirurgia , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/cirurgia , Nódulo da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/cirurgia , Tireoidectomia/métodos , Adulto Jovem
7.
Nat Genet ; 25(4): 423-6, 2000 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-10932187

RESUMO

Robinow syndrome is a short-limbed dwarfism characterized by abnormal morphogenesis of the face and external genitalia, and vertebral segmentation. The recessive form of Robinow syndrome (RRS; OMIM 268310), particularly frequent in Turkey, has a high incidence of abnormalities of the vertebral column such as hemivertebrae and rib fusions, which is not seen in the dominant form. Some patients have cardiac malformations or facial clefting. We have mapped a gene for RRS to 9q21-q23 in 11 families. Haplotype sharing was observed between three families from Turkey, which localized the gene to a 4. 9-cM interval. The gene ROR2, which encodes an orphan membrane-bound tyrosine kinase, maps to this region. Heterozygous (presumed gain of function) mutations in ROR2 were previously shown to cause dominant brachydactyly type B (BDB; ref. 7). In contrast, Ror2-/- mice have a short-limbed phenotype that is more reminiscent of the mesomelic shortening observed in RRS. We detected several homozygous ROR2 mutations in our cohort of RRS patients that are located upstream from those previously found in BDB. The ROR2 mutations present in RRS result in premature stop codons and predict nonfunctional proteins.


Assuntos
Anormalidades Múltiplas/genética , Receptores de Superfície Celular/genética , Anormalidades Múltiplas/patologia , Sequência de Aminoácidos , Substituição de Aminoácidos , Sequência de Bases , Mapeamento Cromossômico , Cromossomos Humanos Par 9/genética , DNA/química , DNA/genética , Análise Mutacional de DNA , Face/anormalidades , Saúde da Família , Feminino , Genes Recessivos , Genótipo , Humanos , Deformidades Congênitas dos Membros/genética , Masculino , Repetições de Microssatélites , Dados de Sequência Molecular , Mutação , Linhagem , Receptores Proteína Tirosina Quinases/genética , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase , Deleção de Sequência , Homologia de Sequência de Aminoácidos , Sindactilia , Síndrome
8.
Bratisl Lek Listy ; 113(7): 393-9, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22794511

RESUMO

This study examined the combined effects of swimming training and coenzyme Q10 (CoQ10) supplementation on exhaustive exercise-induced oxidative stress in rat heart. The study was carried out with 4-month-old young adult male Wistar rats. Sixty four rats were divided mainly into two groups: trained and control. Each group was further divided into four subgroups: rest, exhausted, rest with CoQ10, exhausted with CoQ10. The training program consisted of swimming one hour each day, five days a week, for six weeks. At the end of sixth week, rats in exhausted exercise group were forced to swim until exhaustion and then they were immediately sacrificed, while rats in rest group were sacrificed at rest. Training alone or in combination with CoQ10 supplementation reduced to increasing MDA levels due to exhaustive exercise in rat heart (p<0.05). The trained-rest with CoQ10 group showed lower 8-OHdG levels than the control-rest with CoQ10 group. Exhaustive exercise effect was significant on SOD activity. Exhaustive exercise increased GSH levels in control groups while decreased GSH levels in training groups (p<0.05). In conclusion, the results suggest that CoQ10 supplementation combined with training may inhibit lipid peroxidation and DNA damage in the heart tissue. Also, it can be said that SOD activity and GSH levels were not influenced by CoQ10 supplementation (Fig. 4, Tab. 1, Ref. 69).


Assuntos
Antioxidantes/farmacologia , Miocárdio/metabolismo , Estresse Oxidativo/efeitos dos fármacos , Esforço Físico , Ubiquinona/análogos & derivados , 8-Hidroxi-2'-Desoxiguanosina , Animais , Desoxiguanosina/análogos & derivados , Desoxiguanosina/metabolismo , Masculino , Malondialdeído/metabolismo , Condicionamento Físico Animal , Ratos , Ratos Wistar , Natação , Ubiquinona/farmacologia
9.
Appl Radiat Isot ; 186: 110300, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35635859

RESUMO

Thermoluminescence (TL) emission of tridymite, a quartz-like mineral, could be used for a variety purposes, including basic research, ceramic technology, traditional/medical industry, and dating. The current study focused on the investigation of the thermal effects on both the luminescence emission and structural properties of natural tridymite. Thermally stimulated luminescence of beta and UVC irradiated samples exhibits complex glow curves indicating simultaneous physical-chemistry processes such as phase transitions, dehydration, dehydroxylation or redox reactions involving intrinsic defects (O vacancies giving rise to F+ and F-type centers, Schottky and Frenkel defects), extrinsic defects (dopants) and structural defects (stacking fault defects, linear and planar defects or dislocations). TL glow curves can be analyzed despite the complexity by assuming that photon emission can be fitted to 1st order kinetics. The structural changes observed using thermal X-ray diffraction up to 200 °C indicate that the Miller indices (204) and (321) have only a reversible behavior in the range of 26-29° 2θ. Tests based on the TL also corroborate such reversibility.

10.
Platelets ; 22(8): 588-95, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21591983

RESUMO

Immune thrombocytopenic purpura (ITP) is an autoimmune disease characterized by the presence of autoantibodies developing against thrombocyte membrane glycoproteins (GPs), such as GPIIa/IIIa and GPIb/IX. Single nucleotide polymorphisms (SNPs) of inflammatory cytokine genes were investigated in 71 patients with chronic ITP and 71 healthy controls, and they were compared with the clinical parameters. The polymorphisms in the SNPs were investigated with the polymerase chain reaction, polymerase chain reaction with sequence specific primer, and polymerase chain reaction-restriction fragment length polymorphism methods. It was found that the high expression of TNF-alpha (-308) AG phenotype significantly increased in cases with ITP (odds ratio, OR: 0.318, 95% confidence intervals, CI: 0.103-0.987, p < 0.05). TT genotype in TGF-beta 1 (codon 10) significantly decreased in ITP in comparison with the controls (OR: 0.342, 95% CI: 0.149-0.787, p = 0.016). IFN-gamma (+874) TT genotype was detected to be high in cases with ITP (OR: 3.301, 95% CI: 1.400-7.784, p < 0.05), whereas AA genotype was found to be significantly lower (OR: 4.993, 95% CI: 1.586-15.721, p < 0.05). MBL (codon 54) BB genotype (OR: 1.164, 95% CI: 1.059-1.279, p < 0.05) and IL1A A1/A2 genotype (OR: 0.249, 95% CI: 0.076-0.815, p < 0.05) were found to be significantly higher in cases with ITP than in healthy controls. TNF-alpha (-308) AG phenotype was detected to be significantly higher in steroid-refractory and splenectomized cases at the end of the first year than in the steroid-responsive (complete response (CR) and remission (R)) cases (OR: 4.137, 95% CI: 1.156-14.807, p < 0.05). When we compared the cases, from whom we obtained a CR at their first steroid response, with 12 cases, who entered R but from whom we could not obtain any CR, the frequencies of IFN-gamma (+874) AA genotype were found as 12 (20.3%) and 6 (50%) (OR: 0.082, 95% CI: 0.009-0.793, p < 0.05). MBL (codon 54) AB genotype was detected to be significantly higher in CR patients than in R cases (OR: 1.273, 95% CI: 1.110-1.459, p < 0.05). With these findings, it was found that TNF-alpha/AG, TGF-beta 1/TT, IFN-gamma/TT, MBL/BB, and IL-1RA A1/A2 genotypes were detected as the genes of susceptibility to ITP, while TNF-alpha/AG, IFN-gamma/AA, and MBL/AB genotypes might be important in response to steroid treatment.


Assuntos
Citocinas/genética , Integrina alfa2/genética , Lectina de Ligação a Manose/genética , Polimorfismo de Nucleotídeo Único , Púrpura Trombocitopênica Idiopática/genética , Adolescente , Adulto , Idoso , Alelos , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Genótipo , Glucocorticoides/uso terapêutico , Humanos , Interferon gama/genética , Interleucina-10/genética , Interleucina-1alfa/genética , Interleucina-6/genética , Masculino , Pessoa de Meia-Idade , Prednisolona/uso terapêutico , Púrpura Trombocitopênica Idiopática/tratamento farmacológico , Fator de Crescimento Transformador beta1/genética , Resultado do Tratamento , Fator de Necrose Tumoral alfa/genética , Adulto Jovem
11.
Genet Couns ; 22(1): 55-61, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21614989

RESUMO

Aplasia Cutis Congenita (ACC), characterized by the focal absence of the skin and skin adnexia resulting from a developmental failure, may occur as part of Adams-Oliver Syndrome (AOS) which can be defined as a congenital inherited disorder, consisting of terminal transverse limb defects and vascular anomalies in addition to ACC. Coexistence of isolated preaxial polydactyly without terminal extremity defect and ACC is extremely rare. Furthermore, ACC and preaxial polydactyly has not been reported previously. Here we report a three-generation family with autosomal dominant aplasia cutis congenita and preaxial polydactyly in the last generation and discuss whether it is a coincidence or not.


Assuntos
Aberrações Cromossômicas , Displasia Ectodérmica/genética , Genes Dominantes/genética , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/patologia , Masculino , Linhagem , Polidactilia/diagnóstico , Polidactilia/genética , Couro Cabeludo/patologia , Dermatoses do Couro Cabeludo/congênito , Dermatoses do Couro Cabeludo/diagnóstico , Dermatoses do Couro Cabeludo/genética , Dermatoses do Couro Cabeludo/patologia , Polegar/anormalidades
12.
Genet Couns ; 21(3): 317-24, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20964123

RESUMO

13q deletion syndrome is characterized by mental and motor retardation, craniofacial dysmorphic facial appearance and various congenital malformations. In this article, we present a new case with 13q deletion syndrome phenotypically characterized by fish mouth, choanal atresia and severe mental and motor retardation. In order to determine the certain localization of deleted region high resolution multicolor-banding technique was performed and the karyotype determined as 46,XX,del(13)(q32q33.2). To come in future to a genotype-phenotype correlation, it is very important to delineate the deleted region in such cases in detail by cytogenetic/ molecular cytogenetic methods.


Assuntos
Anormalidades Múltiplas/genética , Atresia das Cóanas/genética , Deleção Cromossômica , Cromossomos Humanos Par 13/genética , Deficiência Intelectual/genética , Anormalidades da Boca/genética , Anormalidades Múltiplas/diagnóstico , Pré-Escolar , Atresia das Cóanas/diagnóstico , Bandeamento Cromossômico , Feminino , Dedos/anormalidades , Humanos , Deficiência Intelectual/diagnóstico , Cariotipagem , Anormalidades da Boca/diagnóstico , Fenótipo , Sindactilia/diagnóstico , Sindactilia/genética , Dedos do Pé/anormalidades
13.
J Sports Med Phys Fitness ; 50(2): 235-40, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20585304

RESUMO

AIM: Oxidative stress occurs only when exercise is exhaustive and is independent of the absolute duration of exercise. In this study the effects of short duration (03:50 +/- 00:06 min) high-intensity exhaustive exercise on lipid peroxidation and antioxidant status were examined. METHODS: A total of thirty-seven male university students (23.9+/-0.6 years old) participated in this study. None was involved in a regular training program before the study. Intensities of exercises were determined according to the maximum slope and speed they could run in Bruce Test Protocol which is used for determining V.O2max of the participants. Just before and after the high intensity exhaustive running exercise test, venous blood was collected and centrifuged to separate the plasma. RESULTS: Lipid hydroperoxides (LOOH) did not change, glutathione peroxidase (GPx) decreased (2%) and catalase (CAT) increased (13%) at the pre and post exhaustive exercise test. These changes were not statistically significant (P>0.05). On the other hand, lactate dehydrogenase (LDH) levels significantly increased (31%) (P< 0.001). CONCLUSION: As a result, it may be claimed that short duration exhaustive exercise test produced no important changes in LOOH, GPx and CAT levels. And exhaustive exercise-induced oxidative stress may be related with exercise duration.


Assuntos
Catalase/sangue , Glutationa Peroxidase/sangue , Peróxidos Lipídicos/sangue , Esforço Físico/fisiologia , Corrida/fisiologia , Adulto , Humanos , L-Lactato Desidrogenase/sangue , Masculino , Consumo de Oxigênio/fisiologia
14.
AJNR Am J Neuroradiol ; 41(6): 1054-1060, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32499248

RESUMO

BACKGROUND AND PURPOSE: Carotid near-occlusion has been subclassified into near-occlusion with and without collapse. We aimed to compare the technical success and perioperative complication rates of carotid artery stent placement with special attention to these subtypes to see whether there is a clinical relevance of this subclassification. MATERIALS AND METHODS: From January 2014 to January 2018, we retrospectively evaluated all patients with atherosclerotic extracranial carotid stenosis treated by carotid artery stent placement. Patients with near-occlusion were identified based on DSA findings. Patient characteristics, the presence of criteria for near-occlusion and collapse, arterial diameters, technical success rate, and perioperative (≤30 days) complications were analyzed. RESULTS: We identified 59 near-occlusions in 58 (46 men, 11 with collapse) patients. Forty-one patients (70.7%) were symptomatic. Technical success rate was 98.3% (58 of 59 procedures). In 1 case of near-occlusion with collapse, we were not able to pass through the stenosis. Compared with patients without collapse (4.2% of 48 cases), those with collapse (30% of 10 stented patients) had significantly higher rates of postintervention hyperperfusion syndrome (P = .032). In the whole cohort, the permanent morbidity and mortality rate was 3.4% (1.7% permanent morbidity and 1.7% mortality). For asymptomatic and symptomatic near-occlusion groups, the rates were 0% and 4.9%, respectively. The composite risk of stroke, death, and myocardial infarction was similar between the groups with and without collapse (P = .682). Rate of hyperperfusion syndrome (with or without permanent deficit) was similar (P = 1) in preoperatively symptomatic patients versus asymptomatic patients (9.8% vs 5.9%). Internal carotid artery diameter consistently increased after carotid artery stent placement in patients with collapse and was not related to the development of hyperperfusion syndrome. CONCLUSIONS: Care should be taken to minimize hyperperfusion risk in patients with near-occlusion undergoing CAS, especially in the subgroup of patients with collapse and in patients with both symptomatic and asymptomatic carotid stenosis.


Assuntos
Estenose das Carótidas/patologia , Estenose das Carótidas/cirurgia , Procedimentos Endovasculares/métodos , Stents , Idoso , Idoso de 80 Anos ou mais , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/instrumentação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Resultado do Tratamento
15.
Genet Couns ; 20(2): 125-32, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19650409

RESUMO

A severely mentally and motor retarded girl with monosomy 3pter--p25 and trisomy 8q24-qter due to a familial reciprocal translocation t(3;8) (p25;q24): We report a familial translocation t(3;8) in a three generation family that includes a severely retarded 9-year-old girl with intrauterine and postnatal growth retardation, microcephaly, capillary hemangiomas of the forehead and perioral region, synophrys, ptosis, long philtrum, high arched palate, micrognathia, malformed ears, clinodactyly, hypotonia, mental and motor retardation. The pedigree was highly suggestive ofa familial rearrangement. Cytogenetics and fluorescent in situ hybridization (FISH) showed an unbalanced translocation of chromosomes 3p25 and 8q24 of maternal origin, karyotype 46,XX,der(3)t(3;8)(p25q24)mat. Using FISH the breakpoint at 8q24 was located distal of TRPS1, the gene for trichorhinophalangeal syndrome. The balanced translocation was found in the mother, maternal grandmother and prenatally diagnosed brother. Ten individuals (seven miscarriages, niece, two nephews) probably also had an unbalanced translocation. Genetic counseling was given to the family. Because of the hemizygous deletion of the VHL gene at chromosome 3p25.3, the patient is at risk for von Hippel-Lindau (VHL) syndrome, predisposing to retinal, cerebellar, spinal haemangioblastomas, renal cell carcinoma, phaeochromocytoma and pancreatic tumors. Therefore, for early detection and treatment of VHL syndrome, we performed periodic screening beginning at age 5 years. A familial translocation t(3;8) is very rare and there are no previous reports on terminal monosomy 3p (pter-->p25) and terminal trisomy 8q (q24-->qter).


Assuntos
Aberrações Cromossômicas , Mapeamento Cromossômico , Cromossomos Humanos Par 3/genética , Cromossomos Humanos Par 8/genética , Proteínas de Ligação a DNA/genética , Deficiência Intelectual/genética , Monossomia/genética , Transtornos Psicomotores/genética , Fatores de Transcrição/genética , Translocação Genética/genética , Trissomia/genética , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Doença de von Hippel-Lindau/genética , Amniocentese , Criança , Feminino , Triagem de Portadores Genéticos , Aconselhamento Genético , Genótipo , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Cariotipagem , Masculino , Gravidez , Proteínas Repressoras
16.
Genet Couns ; 20(4): 373-7, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-20162873

RESUMO

A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly. Postnatally, the patient presented with seizures, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as DiGeorge syndrome. Echocardiography showed malalignment VSD, supravalvular pulmonary stenosis and overriding aorta. Chromosome and FISH studies showed the association of mosaic type trisomy 21 and 22q11.2 microdeletion. The present patient is the second case of mosaic type of Down syndrome associated with 22q11.2 microdeletion. In addition the patient also had clinical and laboratory features of DiGeorge syndrome.


Assuntos
Síndrome de DiGeorge , Síndrome de Down , Síndrome de DiGeorge/diagnóstico , Síndrome de Down/diagnóstico , Feminino , Humanos , Hipoparatireoidismo , Lactente , Idade Materna , Mosaicismo , Gravidez , Diagnóstico Pré-Natal , Turquia
17.
Genet Couns ; 20(2): 195-202, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19650418

RESUMO

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders affecting approximately 1/3500 individuals in all ethnic groups. It is characterized by cutaneous and plexiform neurofibromas, café-au-lait spots, Lisch nodules, freckling in axillary and inguinal regions, optic gliomas and an increased risk of malignancy. The mutation rate of NF1 is one of the highest known for human disorders: approximately 50% of all affected individuals carry de novo mutations. Detection of disease causing mutations in the NF1 gene allows presymptomatic and prenatal diagnosis, but is complex and time-consuming due to the large size of the gene, the existence of pseudogenes, the lack of clustering of the mutations in a particular region of the gene, and the variability of clinical findings. Because the time for investigations in prenatal diagnosis is restricted, detection of disease-associated NF1 alleles is more rapid and useful especially for familial cases. Therefore, genetic diagnosis of NF1 is frequently performed by linkage analysis. In our laboratory, 37 families were characterized with this method, of which two requested prenatal diagnosis. One fetus was found to be under NF1 risk. However, parents elected to continue pregnancy: the child is now 2.5 years old and has NF1 features. The phenotypic variability and the absence of genotype-phenotype correlation create difficulties in reproductive decisions for NF1 families, underlining the importance of appropriate counseling and detailed discussion of possible outcomes before genetic testing of the fetus.


Assuntos
Amniocentese , Amostra da Vilosidade Coriônica , Mapeamento Cromossômico , Aconselhamento Genético , Neurofibromatose 1/genética , Neurofibromina 1/genética , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Genótipo , Humanos , Masculino , Repetições de Microssatélites , Neurofibromatose 1/diagnóstico , Linhagem , Fenótipo , Reação em Cadeia da Polimerase , Polimorfismo Genético/genética , Polimorfismo de Fragmento de Restrição , Gravidez
18.
AJNR Am J Neuroradiol ; 40(11): 1932-1938, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31582390

RESUMO

BACKGROUND AND PURPOSE: Placement of a stent within a flow diverter has been described previously but its consequences have not been analyzed. We evaluated the clinical and angiographic results of stent placement within a flow diverter during the same treatment session. MATERIALS AND METHODS: All patients treated with a Surpass flow diverter were retrospectively evaluated. Patients with previously deployed stents and procedures in which scaffolding stents, a second flow diverter, or intrasaccular devices were used were excluded. Patient and aneurysm characteristics and clinical and imaging follow-up results were compared between stented and nonstented Surpass flow-diverter groups and stent assisted coiling. RESULTS: Thirty-five patients (41 aneurysms) were treated with a Surpass flow diverter only (monotherapy group), and in 33 patients (35 aneurysms), a stent was placed within the Surpass flow diverter (stented group). Stents were placed inside the Surpass flow diverter for a variety of reasons at the operator's discretion. No statistical difference was noted between the 2 groups in age, body weight, sex, history of thromboembolic events, smoking, platelet inhibition levels, hypertension, hyperlipidemia, diabetes mellitus, malignancy, and aneurysm location. Aneurysms in the stented group were larger than those in the monotherapy group (14.8 versus 9.1 mm, P < .001). The rate of clinically significant adverse events and complete aneurysm occlusion rates at 0-3 and 3-6 months (73.3% versus 61.3%, P = .31, and 84.8% versus 70.2%, P = .14) were similar. At 9-12 months, a significantly higher proportion of aneurysms in the stented group achieved complete occlusion (93.9% versus 73.2%, P = .019). There was a trend toward a higher obliteration rate on final follow-up in the stented group (93.9% versus 82.9%, P = .14). CONCLUSIONS: Placement of a stent within a flow diverter increases the rate of aneurysm occlusion. We propose that these results are from improved flow-diverter apposition due to the higher radial force of intracranial stents.


Assuntos
Prótese Vascular , Embolização Terapêutica/instrumentação , Procedimentos Endovasculares/instrumentação , Aneurisma Intracraniano/terapia , Stents , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Embolização Terapêutica/métodos , Procedimentos Endovasculares/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
19.
Transplant Proc ; 40(1): 224-7, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18261592

RESUMO

The aim of this study was to evaluate the safety and effectiveness of a restrictive fluid management strategy and acute normovolemic intraoperative hemodilution (ANIH) to decrease transfusion requirements among living-donors for liver transplantation (LDLT). We retrospectively reviewed the data of 114 consecutive LDLT donors. The patients were divided into 2 groups based on whether (Group I; n = 73) or not (Group II; n = 41) a restrictive fluid management strategy with ANIH was used during the procedure. For each group we recorded demographic features, intraoperative and postoperative transfusions, amount of administered intraoperative crystalloid and colloids, intraoperative hemodynamics, preoperative and postoperative laboratory values (renal and liver functions), intraoperative and postoperative urine output, and length of hospital stay. Demographic features and preoperative laboratory values were similar for the 2 groups, except for age (Group I, 36 +/- 9 vs Group II, 33 +/- 8; P = .04). Intraoperatively, 7 patients (10%) in Group 1 and 9 (22%) in Group II required blood transfusions (P = .06). The respective amount of heterologous blood transfusion for Groups I and II was 96 +/- 321 mL vs 295 +/- 678 mL (P = .06). Postoperative renal and liver functions were not different between the 2 groups (P > .05). Patients in Group I had a shorter hospital stay than those in Group II (8.2 +/- 4.6 days vs 10.1 +/- 4.9 days; P = .03). In conclusion, a restrictive fluid management strategy with ANIH was a safe blood-salvage technique for LDLT. This approach was also associated with decreased length of hospital stay and a trend toward decreased transfusion requirements.


Assuntos
Transfusão de Sangue/estatística & dados numéricos , Hidratação , Hemodiluição/métodos , Hepatectomia/métodos , Doadores Vivos , Coleta de Tecidos e Órgãos/métodos , Adulto , Perda Sanguínea Cirúrgica , Tamanho Corporal , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Monitorização Intraoperatória , Complicações Pós-Operatórias/terapia , Estudos Retrospectivos
20.
Transplant Proc ; 40(1): 53-6, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18261546

RESUMO

Because of the shortage of cadaveric donor organs, living donor liver transplantation (LDLT) has become an established therapy modality for end-stage liver disease. Based on recipient size, both right and left liver lobe grafts have been used successfully in LDLT. The aim of this study was to compare the risk of intraoperative complications and transfusion requirements between right and left lobe donors. We reviewed the charts of 54 right lobe (Group RL), 29 left lobe (Group LL), and 31 left lateral segment (Group LLS) donors who underwent lobectomy from January 2003 through January 2007. We recorded patient demographics, perioperative laboratory values, intraoperative fluid and transfusion requirements, intraoperative hemodynamic parameters, and complications. Demographic features and preoperative laboratory values were similar for the 3 groups, except for age (Group RL, 37.3 +/- 8.7; Group LL, 36.0 +/- 9.3; Group LLS, 31.7 +/- 9.4; P = .02). There were no significant differences in mean liver volumes among the groups (P > .05). Respective graft volumes were 803.1 +/- 139.2 mL, 438.0 +/- 122.7 mL, and 308.2 +/- 76.6 mL for Groups RL, LL, and LLS, respectively (P < .001). More patients in Group LLS required heterologous blood transfusion than did those in the other groups (P = .01). The incidence of intraoperative hypotension was similar for all groups (P > .05). Group RL had a significantly higher rate of intraoperative hypothermia than the other groups (P = .01). There were no intraoperative respiratory complications or cardiac events. These results indicated that both right and left donor lobectomies for LDLT were safe procedures with acceptable rates of minor intraoperative complications.


Assuntos
Hepatectomia/métodos , Transplante de Fígado/fisiologia , Doadores Vivos , Coleta de Tecidos e Órgãos/métodos , Adulto , Anestesiologia/métodos , Antígenos de Grupos Sanguíneos/análise , Diurese , Feminino , Lateralidade Funcional , Humanos , Doadores Vivos/psicologia , Doadores Vivos/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Preservação de Órgãos/métodos , Estudos Retrospectivos , Resultado do Tratamento
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