RESUMO
Complement-mediated humoral rejection has become the main focus of research in organ transplantation. The aim of this study was to investigate the possible association of the complement C5aR gene 450 C/T polymorphism in antibody-mediated renal allograft rejection. This polymorphism was investigated in 290 first deceased donor kidney graft recipients with well functioning grafts and no rejection treatment during the first transplant year (WFG), 265 recipients with graft failure within the first transplant year (F), and 187 healthy controls. Frequency of the 450 CT genotype was lower in the total population of 555 kidney recipients (4.7%) than in 187 healthy controls (8.6%), but the difference was not statistically significant (P = 0.065). A significantly higher frequency of CT genotype was found in F patients (CT: 6.8%) when compared to WFG patients (CT: 2.8%, P = 0.027). The CT genotype was also significantly lower in WFG patients than in healthy controls (P = 0.009). Low frequency of the C5aR 450 CT genotype, which apparently is a feature of certain kidney diseases, appears to be associated with good graft outcome in kidney transplantation and might be helpful for identifying recipients who are at low risk for graft rejection.
Assuntos
Transplante de Rim , Polimorfismo de Nucleotídeo Único/genética , Receptor da Anafilatoxina C5a/genética , Transplantados , Adulto , Estudos de Casos e Controles , Feminino , Genótipo , Técnicas de Genotipagem , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do TratamentoRESUMO
The systemic disorder of mineral and bone metabolism which is related to chronic kidney disease (CKD) is called mineral and bone disorder (MBD). Calcifications related to CKD-MBD may occur in ophthalmic tissue, arterial walls, subcutaneous and periarticular soft tissues and organs. The vascular calcifications are the most important causes of mortality and morbidity in CKD. Here, we present a case of systemic lupus erythematosus with early and disseminated calcifications of vascular and periarticular soft tissues related to CKD-MBD.
Assuntos
Aterosclerose/diagnóstico , Calcinose/diagnóstico , Lúpus Eritematoso Sistêmico/diagnóstico , Insuficiência Renal Crônica/diagnóstico , Adulto , Aterosclerose/etiologia , Aterosclerose/terapia , Calcinose/etiologia , Calcinose/terapia , Diagnóstico Diferencial , Feminino , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/terapia , Insuficiência Renal Crônica/etiologia , Insuficiência Renal Crônica/terapia , Resultado do TratamentoRESUMO
BACKGROUND: Serum levels of Phosphate (P), Calcium (Ca) and Parathyroid hormone (PTH) show circadian rhythms in healthy people. The aim of this study is to investigate whether there is also a rhythm in Hemodialysis (HD) patients. METHODS: We studied 15 (11 M, 4 F) HD patients, ages were 26 - 70 (mean 53 +/- 15) years. Two of the patients had history of parathyroidectomy operation. Serum levels of phosphate, calcium, albumin and PTH were evaluated six times at 07.00, 11.00, 15.00, 19.00, 23.00 and 03.00 on the second day after scheduled HD session. RESULTS: The lowest serum phosphate levels were found at 15.00 (5.41 +/- 1.76 mg/dL), the highest levels were 5.97 +/- 1.77 mg/dL at 03.00. The lowest serum Ca levels were 7.90 +/- 1.31 mg/dL at 03.00, the highest levels were 8.39 +/- 1.20 mg/dL at 15.00. Serum levels of PTH increased two times in a day and then decreased. The lowest levels were 330.07 +/- 203.57 pg/mL at 07.00, the highest levels were 418.30 +/- 206.24 pg/mL at 15.00. The results of two patients who had parathyroidectomy history disclosed that the lowest levels of phosphate were 2.87 +/- 0.12 mg/dL at 15.00, the highest levels were 4.37 +/- 1.25 mg/dL at 07.00. Serum Ca levels were as; the lowest levels: 8.29 +/- 3.5 mg/dL at 03.00, the highest levels 9.30 +/- 3.50 mg/dL at 19.00. As expected, serum PTH levels were constantly low during the day disclosing no correlation with other parameters. CONCLUSIONS: These results show that serum P, Ca and PTH levels exhibit a circadian rhythm also in HD patients. The rhythm predominantly depends on endogen factors and intravascular volume.
Assuntos
Cálcio/sangue , Ritmo Circadiano , Falência Renal Crônica/sangue , Hormônio Paratireóideo/sangue , Fosfatos/sangue , Diálise Renal , Adulto , Idoso , Feminino , Humanos , Falência Renal Crônica/fisiopatologia , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-IdadeRESUMO
Takayasu arteritis (TA) is a chronic granulomatous panarteritis, predominantly affecting the aorta and its main branches. Infections, genetic factors as suggested by familial clustering, and autoimmunity may play a role in its pathogenesis. In this report, we describe familial TA in a mother and daughter with diverse clinical manifestations. In addition to being a familial form of vasculitis, both of our cases demonstrated amyloidosis, chronic renal disease thought to be due to ischemic nephropathy, and hypertensive nephrosclerosis.
Assuntos
Amiloidose/congênito , Amiloidose/diagnóstico , Insuficiência Renal Crônica/congênito , Insuficiência Renal Crônica/diagnóstico , Arterite de Takayasu/congênito , Arterite de Takayasu/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade , Núcleo FamiliarRESUMO
OBJECTIVES: Various cancer studies have suggested that polymorphism of GSTM1 may influence the ability to detoxify chemicals in cigarette smoke. In the present study the effect of smoking on clinical features of Behçet's disease were investigated in patients having GST-M1 and/or -T1 null polymorphisms. METHODS: Ninety-seven patients meeting International Study Group Criteria for Behçet's disease (63 male, 34 female) and 172 healthy controls (94 male, 78 female) were included into the study. GST-M1 and -T1 polymorphisms were investigated using polymerase chain reaction-restriction fragment length polymorphism technique. RESULTS: Frequency of GSTM1- and/or GSTT1-null polymorphisms were comparable between the Behçet and the control groups. Smoking patients with GSTM1 null-polymorphism have decreased risk of developing papulopustuler lesions (OR=0.227 [0.063-0.818], χ2=5.463, p=0.019). Non-smoking patients with GSTM1 null-polymorphism has increased risk for having chronic arthritis (OR=5.988 [0.845-43.478]) but smoking patients with GSTM1 null-polymorphism have decreased risk (OR=0.741 [0.593-0.926]). GSTT1 null-polymorphism is associated with the presence of venous insufficiency (χ2=6.273, p=0.012, OR=2.740 [1.224-6.135]); smoking further increases the risk (χ2=7.840, OR=3.333 [1.412-7.874], p=0.005). GSTM1 null-polymorphism seemed to effect development of large vessel vasculitis (OR=1.158 [0.981-1.367], χ2=4.760, p=0.029). Male smoker Behçet patients even have more risk (OR=1.250 [0.971-1.610]). CONCLUSIONS: Several manifestations of Behçet's disease may be influenced by smoking, and this effect can be augmented in patients carrying GST gene polymorphism, which code enzymes crucial for the detoxification of chemicals.
Assuntos
Síndrome de Behçet/genética , Glutationa Transferase/genética , Polimorfismo Genético , Fumar/efeitos adversos , Adulto , Síndrome de Behçet/complicações , Síndrome de Behçet/enzimologia , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Fenótipo , Reação em Cadeia da Polimerase , Prognóstico , Medição de Risco , Fatores de Risco , Adulto JovemRESUMO
Vascular endothelial growth factor (VEGF) is a cytokine that promotes endothelial cell proliferation, leucocyte chemotaxis and expression of adhesion molecules and is a major mediator of vascular permeability. It has been demonstrated that VEGF directly activates neutrophils and it could promote acute recruitment of leucocytes. It is known that neutrophils are the major cell population involved in acute inflammation in familial Mediterranean fever (FMF) and the role of VEGF in these cells may be crucial. The aim of this study was to investigate whether the 936 C/T functional polymorphism of the VEGF gene is associated with susceptibility to FMF and its relationship with the main clinical features of the disease. Polymerase chain reaction-restriction fragment length polymorphism technique was used to determine 936 C/T polymorphism within the VEGF gene in 75 patients with FMF and 122 non-related healthy controls. Genotype and allele frequencies of the VEGF 936 C/T polymorphism between patients with FMF and healthy control groups were not significantly different (OR = 0.74, 95% CI = 0.40-1.37, P = 0.335 for CT genotype; OR = 1.11, 95% CI = 0.67-1.83, P = 0.700, for T allele). Although VEGF 936 TT genotype was found to be more frequent in patients with FMF than in healthy controls (6.7% vs. 1.6%, respectively), the difference was not significant (OR = 4.28, 95% CI = 0.81-22.67, P = 0.108). No associations were found between the studied polymorphism and either the clinical features such as arthritis, abdominal pain, pleuritis, myalgia, arthralgia and erysipelas-like erythema of the disease or the four common studied exon 10 mutations (M694V, M680I, V726A, M694I) of the Mediterranean fever gene. Present results suggest that VEGF gene 936 C/T polymorphism does not seem to be associated with susceptibility to FMF and its clinical manifestations.
Assuntos
Febre Familiar do Mediterrâneo/genética , Predisposição Genética para Doença , Polimorfismo Genético , Fator A de Crescimento do Endotélio Vascular/genética , Adulto , Febre Familiar do Mediterrâneo/fisiopatologia , Feminino , Humanos , MasculinoRESUMO
OBJECTIVES: To investigate the role of shared epitope (SE) alleles in the short-term clinical response to leflunomide for the treatment of active RA. METHODS: In an open-label, multi-centre study of 16-weeks duration, 93 patients (82% female) fulfilling ARA 1987 RA criteria were treated with leflunomide (100 mg loading dose for 3 days, then 20 mg/day as the maintenance dose). The primary efficacy criterion was the response status according to the European League Against Rheumatism (EULAR) response criteria using Disease Activity Score-28 (DAS28) activity measure. SE determinations have been undertaken by polymerase chain reaction and sequence-specific oligonucleotide genotyping methods. RESULTS: The mean (s.d.) Disease Activity Score-28 (DAS28) was 5.1 (1.3) before the treatment, which was significantly decreased after 16 weeks [3.0 (1.1), P < 0.001]. According to the EULAR response criteria, 55 patients (59.1%) were classified as good responders. SE was positive in 51 (54.8%) of the patients, with 13 (13.9%) having SE homozygosity or carrying any two SE alleles. Among SE-positive patients, 68.6% (35/51) were good responders, compared with 47.6% (20/42) in SE negatives (P = 0.04). No difference was present according to SE hetero- or homozygosity (68.4 vs 69.2%). RF was also present significantly more frequently in the SE-positive group compared with negatives (78.4 vs 57.1%, P = 0.03). However, no significant difference was observed in the prevalence of RF positivity in patients with a good clinical response (72.7 vs 63.2%, P = 0.32). CONCLUSIONS: The results suggest that HLA-DRB1 SE presence may favourably affect the outcome of leflunomide monotherapy in an unselected group of RA patients with an active disease and naive to leflunomide.
Assuntos
Artrite Reumatoide/tratamento farmacológico , Artrite Reumatoide/genética , Antígenos HLA-DR/genética , Isoxazóis/administração & dosagem , Adulto , Alelos , Artrite Reumatoide/imunologia , Biomarcadores/análise , Relação Dose-Resposta a Droga , Esquema de Medicação , Epitopos , Feminino , Seguimentos , Antígenos HLA-DR/análise , Cadeias HLA-DRB1 , Humanos , Leflunomida , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Medição de Risco , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
Heterozygous germ-line mutations in the DNA mismatch repair genes lead to hereditary nonpolyposis colorectal cancer. The disease susceptibility of individuals who constitutionally lack both wild-type alleles is unknown. We have identified three offspring in a hereditary nonpolyposis colorectal cancer family who developed hematological malignancy at a very early age, and at least two of them displayed signs of neurofibromatosis type 1 (NF1). DNA sequence analysis and allele-specific amplification in two siblings revealed a homozygous MLH1 mutation (C676T-->Arg226Stop). Thus, a homozygous germ-line MLH1 mutation and consequent mismatch repair deficiency results in a mutator phenotype characterized by leukemia and/or lymphoma associated with neurofibromatosis type 1.
Assuntos
Reparo do DNA , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Neoplasias Hematológicas/genética , Proteínas de Neoplasias/genética , Neurofibromatose 1/genética , Proteínas Adaptadoras de Transdução de Sinal , Proteínas de Transporte , DNA/química , Feminino , Humanos , Masculino , Proteína 1 Homóloga a MutL , Proteínas de Neoplasias/deficiência , Proteínas NuclearesRESUMO
Systemic sclerosis (SSc) is an autoimmune connective tissue disease with multisystem involvement. An increased incidence of cancer in SSc patients compared with the general population has been reported in several reports. Our aims in this study were to determine the most common malignancies and to investigate the possible risk factors for the development of malignancy in patients with SSc. Three hundred forty SSc patients from 13 centers were included to the study. Data of the patients were obtained by evaluating their medical records retrospectively. A total of 340 patients with SSc were evaluated. Twenty-five of the patients had 19 different types of malignancy. Bladder cancer was the most common type of cancer with four patients and was followed by breast cancer with three patients, and cervix cancer and ovarian cancer with two patients each. Other types of cancers such as squamous cell skin cancer, adenocancer with an unknown origin, multiple myeloma, chronic myeloid leukemia, papillary thyroid cancer, larynx cancer, non-small cell lung cancer, follicular type non-Hodgkin lymphoma (NHL), endometrium cancer, colon cancer, uterus cancer, neuroendocrine tumor, glioblastoma multiforme, and soft tissue sarcoma were diagnosed in one patient each. The only cancer type that showed an association with cyclophosphamide dose was bladder carcinoma. Other malignancies did not show a correlation with age, sex, smoking, type and duration of the disease, autoantibodies, organ involvement, and dose and duration of cyclophosphamide therapy. Cancer may develop in any organ in patients with SSc. Continuous screening of the patients during a follow-up period is necessary for the early detection of the tumor development.
Assuntos
Neoplasias/classificação , Neoplasias/epidemiologia , Escleroderma Sistêmico/complicações , Adulto , Ciclofosfamida/uso terapêutico , Feminino , Seguimentos , Humanos , Imunossupressores/uso terapêutico , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Escleroderma Sistêmico/tratamento farmacológico , TurquiaRESUMO
It has recently been claimed that some of the symptoms in patients with Behçet's disease (BD) can be activated after the patient has stopped smoking. In this study we investigated the effect of smoking on the symptoms of Behçet's disease. Fifty asymptomatic current smokers (CS) who promised to stop smoking (group 1) and 60 current non-smokers (NS) (group 2) (21 of them ex-smokers) with BD were examined at the beginning and a week later for the presence of symptoms of BD. Forty-seven of the 50 CS completed the study. Oral aphthous ulcers were observed in 31 (65.9%) of them at the end of the study period. Besides oral aphthous lesions, genital ulcers were detected in two and erythema nodosum in two other patients. Only 15 (25%) group 2 patients developed oral aphthous ulcers during the study period. The difference between the frequencies of oral aphthous lesions in these groups was significant (p=0.0002). We concluded that cessation of cigarette smoking can activate the mucocutaneous symptoms, especially oral aphthous lesions, in patients with BD.
Assuntos
Síndrome de Behçet/tratamento farmacológico , Síndrome de Behçet/fisiopatologia , Fumar , Adulto , Feminino , Humanos , Masculino , Abandono do Hábito de FumarRESUMO
Zafirlukast is a leukotriene inhibitor that has recently been approved for the prophylaxis of asthma. Although this new product has been well accepted because of its convenient dosing and relatively few side effects, several cases of Churg-Strauss syndrome have been reported to be associated with its use. In this paper we describe the case of a 54-year-old white man with no history of corticosteroid therapy in whom leukocytoclastic vasculitis, hepatitis and eosinophilia developed while he was on zafirlukast therapy for mild asthma.
Assuntos
Antiasmáticos/efeitos adversos , Síndrome de Churg-Strauss/induzido quimicamente , Antagonistas de Leucotrienos/efeitos adversos , Compostos de Tosil/efeitos adversos , Doença Hepática Induzida por Substâncias e Drogas/patologia , Síndrome de Churg-Strauss/patologia , Eosinofilia/induzido quimicamente , Eosinofilia/patologia , Humanos , Indóis , Fígado/efeitos dos fármacos , Fígado/patologia , Masculino , Pessoa de Meia-Idade , Fenilcarbamatos , SulfonamidasAssuntos
Azatioprina/uso terapêutico , Ciclosporina/uso terapêutico , Transplante de Rim/imunologia , Metilprednisolona/uso terapêutico , Adulto , Custos e Análise de Custo , Países em Desenvolvimento , Quimioterapia Combinada , Feminino , Rejeição de Enxerto , Humanos , Terapia de Imunossupressão/economia , Terapia de Imunossupressão/métodos , Masculino , TurquiaRESUMO
In this study we aimed to investigate IVS3 +17T/C single nucleotide polymorphism (SNP) of CD28 gene, +49A/G and -318C/T SNPs of CTLA-4 gene in patients with Behçet's disease (BD) and their potential association to the main clinical features of the disease. These polymorphisms were investigated in a Turkish population of 123 patients with BD and 179 healthy controls, by using PCR-RFLP technique. HLA-B*51 genotype was also studied in both groups by using PCR-SSP. The frequency of IVS3 +17TC genotype of the CD28 gene was significantly increased in BD patients compared to controls (43.6% vs. 31.2%, OR = 1.663, 95% CI = 1.033-2.679, P = 0.039). CTLA-4 +49GG genotype frequency was found to be significantly lower in patients with BD than those of healthy controls (4% vs. 10.6%, OR = 0.357, 95% CI = 0.130-0.983, P = 0.05). Genotype and allele frequencies of the CTLA-4-318C/T polymorphism between the BD and healthy control groups were not significantly different (12.2% vs. 10.6%, OR = 1.170, 95% CI = 0.570-2.402, P = 0.713). There were no associations between the studied polymorphisms and the main clinical features of BD. The frequencies of HLA-B*51 were 60.3% and 30.7% in BD and control groups, respectively (OR = 3.429, 95% CI = 2.115-5.559, P = 0.0001). Association between HLA-B*51 and each studied polymorphism did not reach to significant levels (OR = 0.479, 95% CI = 0.228-1.004, P = 0.064 for CD28 IVS3 +17TT genotype; OR = 2.180, 95% CI = 1.025-4.639, P = 0.061 for TC genotype; OR = 1.570, 95% CI = 0.870-2.836, P = 0.146 for C allele). These results may suggest that CD28 IVS3 +17TC genotype may be a risk factor for the development of BD, on the contrary CTLA-4 +49GG genotype may be protective in the studied Turkish population.
Assuntos
Antígenos CD/genética , Antígenos de Diferenciação/genética , Síndrome de Behçet/genética , Antígenos CD28/genética , Polimorfismo de Nucleotídeo Único , Antígeno CTLA-4 , Feminino , Predisposição Genética para Doença , Humanos , Masculino , TurquiaRESUMO
Radiocolloids have been used in the treatment of hemophilic arthropathy. Fifty-eight joints of 35 patients were injected with 2-5 mCi of yttrium-90 silicate under local anesthesia. A preinjection arthrogram was performed to ensure correct placement of the needle. Plaster of paris cast immobilization of the joint was used for three days. After a mean follow-up period of seven years (range, two to 12 years), 47 joints were pain free, and 13 joints had not experienced another hemorrhagic episode. The mean hemorrhagic frequency had decreased from four per month to two per year. The radiation risk was far outweighed by the benefits of the procedure. Forty-seven of the 58 joints were rated as improved by the patients. The roentgenographic appearance of the joints had changed little. Only five complications occurred: three needle-track necroses because of extravasation of the radiocolloid, two severely painful joints immediately after injection, and one massive hemorrhagic episode. This form of treatment is suggested for hemophiliacs who have failed to respond to intensive physical and hematologic therapy, and for those patients who have inhibitors.
Assuntos
Hemartrose/radioterapia , Hemofilia A/complicações , Silicatos , Ácido Silícico/uso terapêutico , Radioisótopos de Ítrio/uso terapêutico , Ítrio/uso terapêutico , Adolescente , Adulto , Criança , Pré-Escolar , Coloides , Seguimentos , Hemartrose/complicações , Hemartrose/etiologia , Humanos , Amplitude de Movimento Articular , Sinovite/radioterapiaRESUMO
One hundred fifty patients with 160 irritable hip episodes and 120 patients with Perthes' disease who were treated between 1976 and 1986 were compared. The ratio of males to females was 2.1:1 for patients with irritable hip and 3:1 for patients with Perthes' disease. On the average, patients with irritable hip were aged 3 years and patients with Perthes' disease were aged 7 years. The duration of symptoms in patients with irritable hip averaged 6 days and 6 weeks in patients with Perthes' disease. One patient developed Perthes' disease 2 months after the irritable hip episode. The mean intraarticular pressure in 10 of the hip patients was 17 mm Hg in the neutral flexion/extension position. The pressure decreased to a mean of 7 mm Hg at 90 degrees of flexion and increased to 10 mm Hg at 45 degrees and to 16 mm Hg at 30 degrees of flexion. There was a positive correlation between the amount of aspirated fluid and recorded intracapsular pressure. Pressure tamponade in the irritable hip syndrome is probably not responsible for Perthes' disease.
Assuntos
Necrose da Cabeça do Fêmur/etiologia , Doença de Legg-Calve-Perthes/etiologia , Sinovite/complicações , Adolescente , Criança , Pré-Escolar , Feminino , Articulação do Quadril/fisiopatologia , Humanos , Lactente , Doença de Legg-Calve-Perthes/fisiopatologia , Masculino , Pressão , Sucção , Líquido Sinovial/fisiologia , Sinovite/fisiopatologia , Sinovite/terapiaRESUMO
Thirty-three patients with cerebral palsy had iliopsoas transfers as part of their surgery for hip instability. All had total-body involvement, spastic cerebral palsy and none could walk. At the time of surgery, eight hips were subluxated and 39 were dislocated or severely subluxated. Mean follow-up was 8 years in patients between 8-25 years old. Forty-five of the 47 hips were located. Thirty patients had an accompanying scoliosis, and, in 10 patients, the rib cage impinged on the pelvis. Hip flexion had decreased in most patients. Sitting ability had not improved in any patient, and had in fact deteriorated in 50%.
Assuntos
Paralisia Cerebral/complicações , Luxação do Quadril/cirurgia , Músculos Psoas/cirurgia , Transferência Tendinosa/métodos , Adolescente , Criança , Pré-Escolar , Seguimentos , Luxação do Quadril/etiologia , Humanos , Instabilidade Articular/cirurgia , Avaliação de Resultados em Cuidados de Saúde , Postura , Escoliose/complicaçõesRESUMO
Subarticular osteonecrosis has been described with increasing frequency after renal transplantation and the use of immunosuppressive corticosteroids. Six cases have been encountered among 170 patients in the Johannesburg renal transplantation programme. The commonly affected sites are the femoral head, the femoral condyles, the humeral head, the talus and the capitulum. The radiological and morbid anatomical features of this complication are described, alternative theories of pathogenesis are considered and an approach to treatment is outlined.
Assuntos
Corticosteroides/efeitos adversos , Doenças Ósseas/induzido quimicamente , Transplante de Rim , Complicações Pós-Operatórias , Adolescente , Adulto , Doenças Ósseas/terapia , Feminino , Fêmur , Cabeça do Fêmur/patologia , Necrose da Cabeça do Fêmur/induzido quimicamente , Necrose da Cabeça do Fêmur/diagnóstico por imagem , Necrose da Cabeça do Fêmur/patologia , Humanos , Úmero , Hiperparatireoidismo Secundário/complicações , Masculino , Pessoa de Meia-Idade , Osteoporose/complicações , Radiografia , Transplante HomólogoRESUMO
The sitting problems of cerebral-palsied children with total body involvement are discussed. A moulded seat-insert has been devised which resolves most of these problems. Custom-made for each child, the insert incorporates a head-support and the seat components are connected by hinges to allow some range of movement.