RESUMO
BACKGROUND: Lipomas are rarely seen tumors of adipose tissue that are benign in character. Although mostly located to the subcutaneous region, specifically in the upper back, neck, and shoulder, they may also occur in thoracic cavity. AIM: They aim of the study was to analyse clinical features and outcome of treatment of intrathoracic pleural lipomas. MATERIALS AND METHOD: We retrospectively evaluated the clinicopathological records of seven patients with intrathoracic lipomas who had undergone surgery between 2005 and 2017. We made analyses in terms of age, gender, admission complaints, lesion locations and dimensions, diagnostic techniques, operative procedures, histopathological features, and prognosis. RESULTS: Four women and three men with a mean age 62.7 (range, 48-75 years) were included. They had chest pain (n = 2), effort dyspnea (n = 1) as the admission symptom, whereas four patients were asymptomatic, whose lesions were detected on chest radiography on an incidental basis. The radiological features of the tumors were well-demarcated, homogenous lesions with fat density. Tumors of all cases were excised, which were located on the right side in two patients and left in five. We used video-assisted thoracoscopy in two patients, single-port video-assisted thoracoscopy in three patients, thoracotomy in two patients. All lesions were of parietal pleural origin and were located intrathoracically. They had a range of size between 4 and 10 cm, with an average of 6.7 cm. All cases were operated with complete resection. At a mean follow-up duration of 4.7 years no recurrence was noted. CONCLUSION: Intrathoracic lipomas are rare, benignly behaving tumors. As it may prove difficult to differentiate them from malignant lesions and they may grow in an invasive growth pattern, surgery should be pursued in all patients for both diagnosis and treatment.
Assuntos
Lipoma/cirurgia , Neoplasias Torácicas/cirurgia , Cirurgia Torácica Vídeoassistida/métodos , Toracoscopia/métodos , Toracotomia/métodos , Adulto , Idoso , Dor no Peito/etiologia , Dispneia/etiologia , Feminino , Humanos , Lipoma/patologia , Masculino , Pessoa de Meia-Idade , Lobo Parietal , Prognóstico , Estudos Retrospectivos , Neoplasias Torácicas/patologia , Resultado do TratamentoRESUMO
OBJECTIVE: Spinal epidural fibrosis is commonly seen after laminectomy. There is not yet proven any agent preventing fibrosis in clinical usage. We used diclofenac sodium and diltiazem, which are fibrosis inhibitors. METHODS AND MATERIALS: 40 rats were divided into four groups of equal numbers: control, diclofenac sodium, diltiazem, and diclofenac sodium + diltiazem. Laminectomies were performed at L5 and L6. After a 4 week period, the rats were decapitated and the vertebral column blocks were removed for histopathologic examination. Fibrosis percentage, spread of fibrous regions, and fibroblast numbers were evaluated in each group and compared between the groups. RESULTS: The distribution of epidural fibrosis density, percentage of fibrosis, and distribution of fibroblasts in the diclofenac sodium + diltiazem group were significantly lower than in the other groups. The fibroblast numbers of the diltiazem, and diclofenac sodium + diltiazem groups were significantly lower than in the other groups. CONCLUSION: Diclofenac sodium + diltiazem used together provided better outcomes because each of them prevented fibrosis via different ways, probably through synergistic action (Tab. 5, Fig. 3, Ref. 43).
Assuntos
Diclofenaco/farmacologia , Diltiazem/farmacologia , Espaço Epidural/patologia , Fibrose/tratamento farmacológico , Laminectomia/efeitos adversos , Animais , RatosRESUMO
Warthin's tumors which can easily be subjected to misinterpretation are encountered commonly in clinical practice. Warthin's tumors which generally have the localization of parotid gland cauda and have a slow growing characteristic can rarely be seen aside from parotid gland; such as cervical lymph nodes and minor salivary glands. A 56-year-old patient's case that comprised atypical coexistence of Warthin tumor with PET/CT scan positive cervical lymph nodes during the diagnostic examination carried out for a pulmonary mass lesion is presented. While the transthoracic biopsy performed for the mass indicated non-small cell lung carcinoma, histopathologic diagnosis established for the lymph node reported Warthin tumor. Early detection of Warthin tumor may result in earlier diagnosis of lung cancer since patients with Warthin tumor have a higher risk of lung malignancy.
Assuntos
Adenolinfoma/patologia , Neoplasias Pulmonares/patologia , Linfonodos/patologia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Adenolinfoma/diagnóstico por imagem , Adenolinfoma/cirurgia , Biópsia , Carcinoma Pulmonar de Células não Pequenas/patologia , Diagnóstico Diferencial , Feminino , Humanos , Neoplasias Pulmonares/cirurgia , Linfonodos/diagnóstico por imagem , Linfonodos/cirurgia , Masculino , Pessoa de Meia-Idade , Resultado do TratamentoRESUMO
Non-metastatic gene 23 (nm23) is a metastasis suppressor gene that is expressed in all tissues and decreased nm23 expression may be linked to poor prognosis. By immunohistochemical staining of nm23 protein antibodies this study examined the prognostic value of nm23 protein expression in 54 renal cell carcinoma (RCC) patients and analysed its relationship with tumour, node, metastases (TNM) surgical stage, Fuhrman nuclear grade, lymph node involvement and survival. Of the 54 RCC cases studied, 11 (20.4%) showed positive lymph node involvement while 43 (79.6%) were lymph node negative. There was no difference in nm23 protein expression between cases with and without lymph node involvement. In addition, nm23 protein expression was not related to TNM stage, Fuhrman nuclear grade or survival. More extensive studies are required to understand the effect of nm23 protein expression on the biological behaviour of RCC.
Assuntos
Biomarcadores Tumorais/metabolismo , Carcinoma de Células Renais/metabolismo , Neoplasias Renais/metabolismo , Nucleosídeo NM23 Difosfato Quinases/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Renais/patologia , Feminino , Humanos , Técnicas Imunoenzimáticas , Neoplasias Renais/patologia , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Taxa de SobrevidaRESUMO
Involvement of the renal artery is common in Takayasu arteritis. We, herein, present on a patient with Takayasu arteritis causing severe renal failure and a successful auto-transplantation. This case shows that early diagnosis and immediate appropriate interventions are life-saving in patients with Takayasu arteritis. Renal auto-transplantation performed in selected cases increases dialysis-free survival.
RESUMO
BACKGROUND: Congenital chest wall deformities are the most common disorders among the other congenital diseases in thoracic surgery. Standard surgical techniques seem to be sufficient, but to prevent recurrence and complications other surgical approaches have to be chosen, such as freeing the sternum from the second rib cartilage to the costal arch, completely and bilaterally, and external application of Kirschner wire for stabilization. PATIENTS AND METHODS: Between 1996 and 2005, 47 patients with congenital chest wall deformities were examined. The surgical method consists of resecting rib cartilages from the second rib up to the costal arch bilaterally and the application of Kirschner wire for the stabilization of the chest wall. RESULTS: No mortality occurred. Three patients had complications, such as wound infection and pneumothorax. Kirschner wire was removed on the 15th day (between 10-21 days). Mean hospital stay was 16.5 days (10-23 days). Patients were followed up between 2 months and 6 years. No recurrence was observed. CONCLUSION: To prevent recurrence and complications for cosmetic surgery is quite important. For this reason, the surgical technique has to be carried out carefully. Kirschner wire is useful for the stabilization of the chest wall with no risk of infection, foreign body reaction, or the need for a second operation for removal.
Assuntos
Tórax em Funil/cirurgia , Esterno/anormalidades , Parede Torácica/anormalidades , Adolescente , Adulto , Fios Ortopédicos , Criança , Pré-Escolar , Feminino , Tórax em Funil/diagnóstico por imagem , Humanos , Masculino , Osteotomia/métodos , Complicações Pós-Operatórias/diagnóstico por imagem , Radiografia , Esterno/diagnóstico por imagem , Esterno/cirurgia , Parede Torácica/diagnóstico por imagem , Parede Torácica/cirurgiaRESUMO
BACKGROUND: Mild haemoptysis can change into massive haemoptysis and unfortunately one cannot predict whether it will change or not. For this reason, we investigated the records of patients who had been admitted due to haemoptysis retrospectively in order to find the trigger mechanisms of haemoptysis and the effects of conservative and aggressive treatment methods. METHODS: Hospital records of 249 patients with haemoptysis between 1997 and June 2005 were analysed retrospectively. Patients were classified into three groups according to the amount of blood expectorated in 24 hours. Group 1 included cases that had haemoptysis of less than 200 ml/24 h ; group 2 consisted of massive haemoptysis which was defined as expectoration of blood of 200-400 ml/24 h, and group 3 comprised patients who had 400 ml/24 h or more of haemoptysis defined as life-threatening haemoptysis. RESULTS: There were 169 male and 80 female patients. Mean age was 43.9 (4-78) in male patients and 33.8 (7-82) in female patients. The most frequent cause of haemoptysis was lung cancer in groups 1 and 2, and hydatid disease in group 3. Furthermore, we found that at least one trigger mechanism beyond primary disease caused haemoptysis in all groups. CONCLUSIONS: Haemoptysis is a life-threatening symptom that can alert patients to see a physician. Mild to moderate haemoptysis may change into massive and life-threatening forms. Unfortunately it is not predictable whether it will change or not. We deduced that a treatment strategy has to be planned according to trigger mechanism in patients with haemoptysis and that surgery is a definitive solution in these patients.
Assuntos
Hemoptise/etiologia , Pneumopatias/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Bronquiectasia/complicações , Bronquiectasia/diagnóstico , Bronquiectasia/cirurgia , Broncoscopia , Carcinoma Broncogênico/complicações , Carcinoma Broncogênico/diagnóstico , Carcinoma Broncogênico/cirurgia , Criança , Pré-Escolar , Diagnóstico Diferencial , Equinococose Pulmonar/complicações , Equinococose Pulmonar/diagnóstico , Equinococose Pulmonar/cirurgia , Embolização Terapêutica , Feminino , Hemoptise/classificação , Hemoptise/cirurgia , Humanos , Pneumopatias/complicações , Pneumopatias/diagnóstico , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/cirurgia , Masculino , Pessoa de Meia-Idade , Pneumonectomia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Tuberculose Pulmonar/complicações , Tuberculose Pulmonar/diagnóstico , Tuberculose Pulmonar/cirurgiaRESUMO
Progressive systemic amyloidosis is the most important complication of familial Mediterranean fever that inevitably leads to chronic renal failure. Initial studies have suggested that the presence of the Met694Val mutation carry a significant risk for the development of amyloidosis. On the contrary, our data revealed that there was no dominance of any MEFV mutation in relation to amyloidosis. The difference between our mutation data and others led us to study a polymorphism in Turkish population that might be a risk factor for the occurrence of amyloidosis. As some of the previously reported exonic polymorphisms in other disease states found to increase the genetic susceptibility, we aimed to study Ala138Gly of the MEFV gene. Our study group consisted of 124 FMF patients, of which 47 had amyloidosis. Eighty-one individuals without any familial history of FMF were included as control group. There was no statistically significant difference between healthy controls and FMF patients for the Ala138Gly polymorphism (p=0.9). However, when FMF/amyloidosis patients (n:47) were taken as another group, the difference was significant (p= 0.01) indicating that the carriers of 138Gly are more prone to amyloidosis [odds ratio 3.1 (CI 95% 1.57-5.75)].
Assuntos
Alanina/genética , Substituição de Aminoácidos/genética , Amiloidose/genética , Febre Familiar do Mediterrâneo/genética , Glicina/genética , Proteínas/genética , Proteínas do Citoesqueleto , Febre Familiar do Mediterrâneo/epidemiologia , Frequência do Gene , Triagem de Portadores Genéticos , Predisposição Genética para Doença/genética , Humanos , Mutação/genética , Polimorfismo Genético/genética , Pirina , Fatores de Risco , Turquia/epidemiologiaRESUMO
Familial Mediterranean fever (FMF) is a recessive inherited disorder affecting Sephardic Jews, Arabs, Armenians and Turks. The gene responsible for FMF was recently cloned and several disease-associated mutations have been described. We have evaluated seven MEFV mutations in 460 chromosomes of 230 unrelated patients with FMF living in Turkey, using PCR methods. The M694V allele accounted for 43.5% of the alleles studied and 19.1% of the patients were homozygous. The M680I, V726A and M694I mutations were responsible for 12.0%, 11.1% and 2.8% of the patients respectively. R761H, K695R and E148Q were rarely encountered. Two thirds of the disease alleles were attributed to three common mutations: M694V, M680V and V726A, but only 54% of the patients carried one or two of the three mutations. Adding the four rarer mutations increased these figures to 72% and 60%, respectively. Altogether, 79.6% of the patients bore at least one of the main mutations, and 84.3% carried at least one of the seven mutations studied. The 28 patients suffering also from amyloidosis carried at least one of five mutations, M694V being the most common. These results suggest that the origin of FMF in Turkey is heterogenous, all common mutations are associated with amyloidosis. Further, rapid and accurate molecular diagnosis of FMF is feasible in most cases.
Assuntos
Febre Familiar do Mediterrâneo/genética , Proteínas/genética , Proteínas do Citoesqueleto , Humanos , Mutação , Reação em Cadeia da Polimerase , Pirina , TurquiaRESUMO
We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. No mutation frequency, including that of M694V, was different between the two groups. Family history of amyloidosis and parental consanguinity were noted to be higher in the amyloidosis group. The seven mutations do not appear to be sufficient to explain the development of amyloidosis in Turkish FMF patients. Other genetic factors may be important for this association.
Assuntos
Amiloidose/genética , Febre Familiar do Mediterrâneo/genética , Mutação/genética , Adulto , Idade de Início , Idoso , Amiloidose/etiologia , Estudos de Casos e Controles , Colchicina/uso terapêutico , Consanguinidade , Febre Familiar do Mediterrâneo/complicações , Feminino , Genes Recessivos , Genótipo , Supressores da Gota/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Reação em Cadeia da Polimerase , Turquia/etnologiaRESUMO
Heterozygosity and/or homozygosity for mutations at the genes of the enzymes involved in homocysteine metabolism may confer an increased risk for thrombosis by causing hyperhomocysteinemia. Although the mutations related to homocysteine metabolism possibly increase the risk of stroke, the data are conflicting and there are very few reports linking these defects to acute stroke in children. We aimed to study the role of these mutations in Turkish children with ischemic stroke. Forty-six patients having cerebral infarct were clinically diagnosed, and the infarction verified with magnetic resonance imaging of the brain was included in the study. All patients were below the age of 18 (10 months to 18 years). Sixty-eight controls, consecutively selected among healthy unrelated subjects from the same geographic area of Turkey without personal and family history of thrombosis, stroke or Behest's disease, were included. Genotyping for the common mutations was carried out by the methods described previously. There was no difference between the pediatric stroke patients and controls for the distribution of methylene tetrahydrofolate reductase (MTHFR) 677 C-T, MTHFR 1298 A-C, methylene tetrahydrofolate dehydrogenase (MTHFD) 1958 G-A and methionine synthase reductase (MTRR) 66 A-G alleles. There was no risk for double gene alterations (MTHFR 677 C-T vs. 1298 A-C) after individuals with FV 1691 A mutation is excluded. Twelve of the 46 patients were found to carry FV 1691 A mutation (26.0%), one being homozygote. The cerebral infarct risk for FV 1691 A was found to be 6.4 (CI 95% 1.7-23.0). Eight of the 46 patients were found to carry PT 20210 A mutation (16.6%). Two of the FV 1691 A heterozygous patients carried PT 20210 A mutation at the same time (4.2%). As a conclusion, we can say that FV 1691 A and PT 20210 A mutations are important and must be included to the routine analysis of pediatric stroke patients.
Assuntos
Infarto Cerebral/etiologia , Homocisteína/metabolismo , Mutação , Adolescente , Estudos de Casos e Controles , Infarto Cerebral/epidemiologia , Infarto Cerebral/genética , Criança , Pré-Escolar , Fator V/genética , Ferredoxina-NADP Redutase/genética , Frequência do Gene , Humanos , Lactente , Metilenotetra-Hidrofolato Redutase (NADPH2) , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Fatores de Risco , Turquia/epidemiologiaRESUMO
The possible role of point mutations in the platelet integrin alpha2 beta1 gene in Turkish children with ischemic stroke was evaluated in this study. The case-control study included 44 pediatric patients with cerebral infarct (age range, 10 months to 18 years) and 96 healthy unrelated individuals. Genotyping was performed according to previously described methods. Distribution of the three haplotypes were 36.4%, 45.3%, 10.4% and 31.8%, 50.0%, 13.6% for the controls and the patients, respectively. A new fourth haplotype was found which was 7.8% and 4.5% respectively. Our data indicated that these haplotypes are not risk factors in pediatric stroke group.
Assuntos
Infarto Cerebral/genética , Integrinas/genética , Adolescente , Alelos , Estudos de Casos e Controles , Infarto Cerebral/etiologia , Criança , Pré-Escolar , Frequência do Gene , Testes Genéticos , Genótipo , Humanos , Lactente , Glicoproteínas da Membrana de Plaquetas/genética , Receptores de Colágeno , Turquia/epidemiologiaRESUMO
Thromboangiitis obliterans (TAO), or Buerger's disease, is a segmental occlusive inflammatory disorder of the arteries and veins, and etiopathogenesis is still obscure. In the present study we investigated the prevalence of prothrombin 20210 G-->A, factor V 1691 G-->A (Factor V Leiden), and factor V 4070 A-->G (His 1299 Arg) mutations, found to be associated with increased risk for vascular thrombosis, in 36 patients with TAO. We performed a case-control study of these mutations. The odds ratio for prothrombin 20210 A allele compared with G allele was 7.98 (95% confidence intervals 2. 45-25.93). Only this prothrombotic genetic factor was associated with the risk of TAO (p=0.032). In conclusion, carrying the prothrombin 20210 G-->A may be an important prothrombotic risk factor of TAO. This genetic predisposition must be screened in these patients routinely, and clinical importance must be supported by further investigations.
Assuntos
Tromboangiite Obliterante/genética , Trombofilia/genética , Adolescente , Adulto , Alelos , Estudos de Casos e Controles , Fator V/genética , Feminino , Genótipo , Humanos , Masculino , Mutação Puntual , Prevalência , Protrombina/genética , Fatores de Risco , Tromboangiite Obliterante/epidemiologia , Trombofilia/epidemiologiaRESUMO
Possible effect of three common mutations in (MTHFR 677 C-T; 1317 T-C; 1298 C-A) and FV 1691 G-A mutation was studied in Turkish patients with thrombosis and compared with normal controls. The case-control study included 68 patients with the diagnosis of deep vein thrombosis and 66 controls, consecutively selected among subjects without personal and familial history of atherothrombosis. Patients with deep vein thrombosis were selected if Doppler ultrasonography was positive. Only, the comparison of factor V 1691 G-A mutation revealed statistically significant difference in control (6.06%) and deep vein thrombosis (23.5%) group. Risk assessment of double prothrombotic gene alterations revealed only FV 1691 G-A mutation as an independent risk factor for thrombosis (odds ratio 4.7 [1.5-15.0]), but our data suggested that MTHFR 677 has effect on its own (odds ratio 1.97 [0.6-2.7]) but may have synergy with FV 1691 G-A (odds ratio 8.12 [2.0-25.3]). However, MTHFR 1298 A-C and 1317 T-C does not have any effect; furthermore, being heterozygote at two different loci or homozygosity at least in a locus for 677 and 1298 revealed a significant increase (odds ratio 9 and 24 [1.3-59.3 and 2.3-240.3]) between these two groups.
Assuntos
Fator V/efeitos dos fármacos , Fator V/genética , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/farmacologia , Trombose Venosa/epidemiologia , Trombose Venosa/genética , Estudos de Casos e Controles , Frequência do Gene , Homozigoto , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2) , Mutação de Sentido Incorreto , Mutação Puntual , Fatores de Risco , Turquia/epidemiologia , Trombose Venosa/sangueRESUMO
A decreased fibrinolytic activity due to increased levels of plasminogen activator inhibitor-1 has been shown in deep vein thrombosis patients. Elevated plasma plasminogen activator inhibitor-1 levels are associated with the 4G allele of a 4G/5G polymorphism located in the promoter region of the plasminogen activator inhibitor-1 gene. Because there is no existing data in the Turkish population, we aimed to study these mutations in patients with deep vein thrombosis (n = 136) and normal controls (n = 113), consecutively selected among unrelated healthy subjects without personal and familial history of atherothrombosis from Ankara, Turkey. DNA was extracted by conventional methods, and polymerase chain reaction of the plasminogen activator inhibitor-1 4G/5G polymorphism was performed according to a previously described method. Genotype distributions of FV 1691G-A and plasminogen activator inhibitor-1 4G/5G are as follows: plasminogen activator inhibitor-1 4G (patients) 0.562, plasminogen activator inhibitor-1 4G (controls) 0.50 (p = 0.6); FV1691A (patients) 0.147, FV1691A (controls) 0.035 (p = 0.005). Our data indicated that plasminogen activator inhibitor-1 4G/5G does not have an effect on the thrombotic risk. Carrying the 4G allele either in heterozygous or homozygous state increases the risk in the presence of FV1691A (odds ratio: 9.8 and 6.9, confidence interval 95% 2.9-32.7 and 1.3-35.8). FV1691A is an independent risk factor for thrombosis (odds ratio: 5.5, confidence interval: 95% 2.5-12.1). We concluded that coexistence of FV1691A and plasminogen activator inhibitor-1 4G allele leads to an increased risk for thrombosis leading a further evidence to another prothrombotic factor that may be necessary for the development of a manifest thrombotic event.
Assuntos
Fator V/genética , Inibidor 1 de Ativador de Plasminogênio/genética , Polimorfismo Genético , Trombose Venosa/genética , Adulto , Estudos de Casos e Controles , Predisposição Genética para Doença , Humanos , Mutação , Inibidor 1 de Ativador de Plasminogênio/metabolismo , Fatores de Risco , TurquiaRESUMO
Common mutations in three genes (MTHFR 677 C-T; MS 2756 A-G; CBS Exon 8,844 ins 68) in homocysteine metabolism have been shown to cause increased plasma homocysteine levels thus causing a predisposition to thrombosis. FV 1691 G-A mutation, which is very common in the Turkish population, was also studied. As there is no existing data in the Turkish population, we aimed to study these mutations in patients with thrombosis and normal controls. The case-control study included 52 patients with the diagnosis of deep vein thrombosis (DVT) and 106 controls, consecutively selected among subjects without personal and family history of atherothrombosis. Patients with DVT were selected if Doppler ultrasonography was positive. The comparison of FV 1691 G-A mutation revealed statistically significant difference in control and DVT group. Risk assessment of double prothrombotic gene alterations indicated only FV 1691 G-A mutation as an independent risk factor for thrombosis, but our data suggested that MTHFR 677 has little effect on its own but may have synergy with FV 1691 G-A. Other possible risk genotypes at the homocysteine pathway did not have a significant effect on thrombosis. Furthermore, being heterozygote at two different loci or homozygosity at least in one locus also did not reveal a significant difference between these two groups in our population.
Assuntos
Predisposição Genética para Doença , Mutação , Trombose/genética , Estudos de Casos e Controles , Homocisteína/genética , Homocisteína/metabolismo , Humanos , Trombose/epidemiologia , Trombose/metabolismo , Turquia/epidemiologiaRESUMO
OBJECTIVE: Familial Mediterranean fever (FMF) is an autosomal recessive disorder of childhood characterized by attacks of fever and serositis. Renal amyloidosis is the most important complication of the disease that determines the prognosis. METHODS: Forty-eight Turkish FMF patients with amyloidosis who have been followed at the two hospitals in Ankara were included in this study. RESULTS: All patients with amyloidosis had been symptomatic for FMF at the time of the diagnosis (Phenotype I), none had received regular colchicine therapy and all presented with proteinuria. Ten of them had asymptomatic proteinuria; 38 had nephrotic syndrome and 8 of them had renal insufficiency (CRI) as well, at the time of the diagnosis. Regular colchicine therapy was commenced to all of the patients. At the end of observation period of 4.5 +/- 2.23 years (range 2-12 yrs) on treatment, nephrotic syndrome resolved in 13 patients and proteinuria was lost in 5 of them. None but 2 of the patients who were diagnosed at proteinuric stage progressed to end stage renal failure (ESRF). Seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) were systematically investigated in 32 patients. Six of the seven studied mutations were found in these patients and clinical diagnosis was confirmed by mutation analysis in 24 patients. Eight patients were found to have mutations on one of the alleles. CONCLUSION: Amyloidosis is the most serious complication of FMF. Colchicine treatment ameliorates the progression of renal disease in the patients who presented with proteinuria and even with nephrotic syndrome. No correlation between the outcome of the patients with nephrotic syndrome and the degree of proteinuria and/or serum albumin levels at the initiation of treatment were noted. Progression to ESRF seems inevitable despite colchicine therapy after the development of CRI in patients with FMF associated amyloidosis.
Assuntos
Amiloidose/genética , Febre Familiar do Mediterrâneo/genética , Nefropatias/genética , Proteínas/análise , Adolescente , Adulto , Idade de Início , Amiloidose/etiologia , Amiloidose/fisiopatologia , Criança , Proteínas do Citoesqueleto , Análise Mutacional de DNA , Febre Familiar do Mediterrâneo/complicações , Feminino , Humanos , Nefropatias/etiologia , Nefropatias/fisiopatologia , Masculino , Fenótipo , Proteinúria/etiologia , Pirina , Turquia/epidemiologiaRESUMO
The thrombotic risk of carrying plasminogen activator inhibitor-1-675 4G allele was found to be controversial in previous studies. The aim of this study was to evaluate the possible effect of plasminogen activator inhibitor-1 4G/5G polymorphism in the pathogenesis of childhood stroke. The case-control study included 43 patients with cerebral infarct who were below the age of 18 years (range, 10 months to 18 years) and 113 healthy unrelated individuals without family histories of thrombosis. Plasminogen activator inhibitor-1 4G/5G polymorphism was analyzed according to a previously described method. There was no statistically significant difference in patient and control groups for the distribution of plasminogen activator inhibitor-1 4G/5G polymorphism (P = .75) (allele frequency 4G controls: 0.50; patients: 0.53). However, there was a significant difference for the factor V (FV) 1691 A mutation for both groups (P = .0007).
Assuntos
Infarto Cerebral/genética , Fator V/genética , Inibidor 1 de Ativador de Plasminogênio/genética , Polimorfismo Genético , Adolescente , Idade de Início , Estudos de Casos e Controles , Infarto Cerebral/etiologia , Infarto Cerebral/fisiopatologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Mutação Puntual , Fatores de RiscoRESUMO
Inherited gene defects related to the coagulation system have been reported as risk factors for ischemic stroke. These gene defects include a G-A transition at nucleotide 1691 in exon 10 of the Factor V gene causing activated protein C resistance; a G-A transition in the 3' untranslated region of the prothrombin gene at nucleotide position 20210 (G-A), which is associated with increased levels of prothrombin activity; and a C-T polymorphism at nucleotide 677 in the methylenetetrahydrofolate reductase gene responsible for an alanine to valine substitution, resulting in the synthesis of a thermolabile form of methylenetetrahydrofolate reductase that causes increased levels of homocysteine. The case-control study included 28 patients with cerebral infarction; all were 18 years of age or younger (range, 10 months to 18 years). Seven (25%) of the 28 patients were heterozygous for the FV1691 mutation. Five (17.8%) of the patients carried the PT20210A mutation. Two (7.1%) of the patients carried both mutations. When compared to controls, the difference was significant for both mutations (P = .007; .04). The frequency of allele T of methylenetetrahydrofolate reductase 677 was 0.3214, which was not significant when compared to controls (0.231; P = .3). A total of 12 (42.8%) patients carried one or both of the mutations FV1691 G-A and PT20210 G-A. From our data, it appears that FV1691 G-A and PT20210 G-A are associated with cerebral infarct risk independently. Risk assessment of double prothrombotic gene alterations did not reveal synergy between these mutations. In conclusion, the presence of FV1691 A and PT20210 A mutations but not the methylenetetrahydrofolate reductase 677 TT mutation correlate with the occurrence of cerebral infarction in children.
Assuntos
Infarto Cerebral/genética , Fator V/genética , Mutação , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Protrombina/genética , Adolescente , Alelos , Estudos de Casos e Controles , Infarto Cerebral/etnologia , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença , Heterozigoto , Humanos , Lactente , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2) , Polimorfismo Genético , TurquiaRESUMO
BACKGROUND: Elevated plasma homocysteine level is an independent risk factor for cardiovascular disease. A common mutation (nucleotid 677C-T) in the gene coding for methylenetetrahydrofolate reductase (MTHFR) has been reported to reduce the enzymatic activity of MTHFR and is associated with elevated plasma levels of homocysteine, especially in subjects with low folate intake. HYPOTHESIS: Methylenetetrahydrofolate reductase T/T genotype may be a risk factor for premature MI in Turkish population who are known to have low folate levels. METHODS: The study group was comprised of 96 men (aged <45 years) with premature myocardial infarction (MI) and 100 age- and gender-matched controls who had no history or clinical evidence of coronary artery disease (CAD) and/or MI. DNA was extracted from peripheral blood and genotypes were determined by polymerase chain reaction, restriction mapping with HinfI, and gel electrophoresis. Conventional risk factors for CAD were prospectively documented. RESULTS: Allele and genotype frequencies among cases and control subjects were compatible with Hardy-Weinberg equilibrium. The frequencies of T/T, C/T, and C/C genotypes among patients with MI and control subjects were 15.6, 40.6, and 43.8%, and 5, 35, and 60%, respectively. Multivariate analyses identified smoking, MTHFR C/T polymorphism, diabetes mellitus, family history of CAD, and hypertension as the independent predictors of premature MI. Defining patients with non-T/T genotype (C/C and C/T combined) as reference, the relative risk of MI for subjects with T/T genotype was 5.94 (95% confidence interval: 1.96-18.02, p = 0.0016). CONCLUSIONS: Our findings suggest that C677T transition in the MTHFR gene may be a risk factor for premature MI in Turkish men.