Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 71
Filtrar
Mais filtros








Base de dados
Intervalo de ano de publicação
1.
Eur Rev Med Pharmacol Sci ; 27(6): 2377-2384, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-37013756

RESUMO

OBJECTIVE: We aimed to investigate the relation of NT-pro BNP level and left ventricular ejection fraction with premature ventricular complex burden. PATIENTS AND METHODS: A total of 94 patients with PVC burden > 5% (age 45.9+12.9 years, 53 males, 41 females) were included in the study. The primary outcome was PVC burden % and main prognostic factors were LVEF% and NT-Pro BNP level. Gender, age, DM, HTN, presence of symptoms, symptom duration and heart rate were used as adjustment predictor variables. We created four different linear multivariable models to compare performance measures of prognostic factors: Model-1 has gender, age, DM, HTN, symptoms and heart rate, while LVEF has been added in addition to model-1 in model-2. Model-3 included NT-Pro-BNP alongside model-1 variables, while model-4 included both LVEF and NT-Pro-BNP variables in addition to model-1 variables. Accordingly, we compare the performance (R2, likelihood ratio X2) of models. RESULTS: The median PVC burden was 18% (IQR; 11-27). When model-1 consisting of gender, age, DM, HTN, presence of symptoms, symptomS duration and heart rate and model-2 consisting of LVEF in addition to variables of model-1 were compared, it was observed that both LRX2 and R2 values improved (likelihood ratio test p-value=0.013). Model-1 compared with model-3 which consisting of NT-pro BNP in addition to variables of model-1, and it was observed that both LRX2 and R2 values improved (likelihood ratio test p-value=0.008). However, when compared to model-1, the most significant improvement was observed in both LRX2 and R2 values in model-4 consisting of model-1 plus NT-Pro-BNP and LVEF (likelihood ratio test p-value <0.001). CONCLUSIONS: We determined that NT-pro-BNP levels and LVEF could predict PVC burden in patients. Higher levels of NT-pro-BNP and lower LVEF values were associated with increased PVC burden.


Assuntos
Função Ventricular Esquerda , Complexos Ventriculares Prematuros , Masculino , Feminino , Humanos , Adulto , Pessoa de Meia-Idade , Volume Sistólico/fisiologia , Biomarcadores , Peptídeo Natriurético Encefálico , Fragmentos de Peptídeos
2.
Eur Rev Med Pharmacol Sci ; 27(5): 2127-2131, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36930512

RESUMO

OBJECTIVE: The impact of COVID-19 infection still continues all over the world and is an important cause of mortality. The mortality rate due to infection varies between 1-5%. The mortality rate is higher in those with cardiovascular risk factors, especially in cases with hypertension. Some studies have shown that blood urea nitrogen (BUN) and albumin levels are associated with worse prognosis in patients with COVID-19. In our study, we aimed to investigate whether the BUN/albumin (BAR) ratio has an effect on in-hospital mortality in hypertensive COVID-19 patients. PATIENTS AND METHODS: A total of 800 hypertensive COVID-19 patients, (618 of whom were alive and 182 died) were included in our study. Patients with a history of heart failure, malignancy, acute coronary syndrome, and myocarditis were excluded. RESULTS: The median age of the study population was 69 (60-77 IQR) years, and 305 (38%) of these patients were men. There was no statistically significant difference between the patients who died during follow-up and cases that remained alive in terms of comorbidities except chronic obstructive pulmonary disease (COPD) which was significantly lower in surviving group (p=0.014). Multivariable logistic regression analysis revealed that age [OR: 1.04, CI (1.01-1.06); p=0.002], male gender [OR: 1.85, CI (1.13-3.02); p=0.010], lymphocyte count [OR: 0.63, CI (0.40-0.98); p=0.038], SaO2 [OR: 0.82, CI (0.79-0.85); p<0.001] and BAR level [OR: 1.09, CI (1.04-1.16); p=0.001] were independent predictors of in-hospital mortality. ROC analysis yielded that BAR is a better predictor of in-hospital mortality compared to albumin and BUN alone. CONCLUSIONS: BUN, albumin, and BAR levels were found to be reliable predictors of in-hospital mortality in COVID-19 patients, and BAR was also found to be a more reliable predictor than BUN and albumin levels. Hypertension is one of the major risk factors for morbidity and mortality in COVID-19 and, BAR presents additional prognostic data in hypertensive COVID-19 patients that may direct physicians for treatment intensification.


Assuntos
COVID-19 , Hipertensão , Humanos , Masculino , Feminino , Nitrogênio da Ureia Sanguínea , Mortalidade Hospitalar , Biomarcadores , Prognóstico , Albuminas , Estudos Retrospectivos
3.
Herz ; 44(2): 155-160, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28993840

RESUMO

BACKGROUND: The aim of this study was to investigate the prognostic value of restrictive right ventricular filling pattern (RRVFP) in patients with the first acute inferior wall myocardial infarction (IWMI) complicated by right ventricular myocardial infarction (RVMI) undergoing primary percutaneous coronary intervention (p-PCI). METHOD: A total of 152 patients with acute IWMI complicated by RVMI undergoing p­PCI were divided into two groups according to the presence of RRVFP. RRVFP was defined as tricuspid diastolic early/late flow velocities (Et/At) > 2 and Et deceleration time (DT) < 120 ms. RESULTS: There were 23 patients with RRVFP in the study cohort. At, DTt, isovolumetric relaxation time (IVRT), and tissue Doppler tricuspid annular late velocity (A't) were reduced significantly in patients with RRVFP than in those without RRVFP (At 19.6 ± 2.7 vs. 39.1 ± 7.4 cm/s, p < 0.001; DTt 106 ± 13 vs.156 ± 21 ms, p = 0.001; IVRT 59 ± 6.7 vs. 62 ± 7.4 ms, p = 0.01; A't 4.6 ± 1.1 vs. 8.6 ± 1.05, p = 0.001). Et/At ratios were higher in patients with RRVFP than in those without RRVFP (Et/At 2.20 ± 0.2 vs. 1.15 ± 0.37, p < 0.001). Et, tissue Doppler tricuspid annular early velocity (E't), E't/A't ratio, and Et/E't ratio were not significantly different between groups (Et 43.3 ± 5.4 vs. 40.7 ± 9.2 cm/s p = 0.18; E't 8.8 ± 1.4 vs. 9.5 ± 2.3, p = 0.15; E't/A't 1.08 ± 0.24 vs. 1.13 ± 0.30, p = 0.52; Et/E't ratio 5.0 ± 1.1 vs. 4.5 ± 1.5 p = 0.09). Presence of E't/A't > 2, short DTt, RRVFP, unsuccessful p­PCI, and cardiogenic shock on admission were independent predictors of in-hospital mortality (p < 0.05) in multivariable logistic regression analysis. CONCLUSION: Presence of RRVFP is associated with in-hospital mortality in patients presenting with their first IWMI complicated by RVMI.


Assuntos
Cardiomiopatias , Intervenção Coronária Percutânea , Infarto do Miocárdio com Supradesnível do Segmento ST , Disfunção Ventricular Direita , Humanos , Masculino , Estudos Prospectivos , Resultado do Tratamento
4.
J Endocrinol Invest ; 40(6): 621-626, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28035526

RESUMO

OBJECTIVE: The aim of this study is to determine the changes involving auditory system in cases with acromegaly. MATERIALS AND METHODS: Otological examinations of 41 cases with acromegaly (uncontrolled n = 22, controlled n = 19) were compared with those of age and gender-matched 24 healthy subjects. Whereas the cases with acromegaly underwent examination with pure tone audiometry (PTA), speech audiometry for speech discrimination (SD), tympanometry, stapedius reflex evaluation and otoacoustic emission tests, the control group did only have otological examination and PTA. Additionally, previously performed paranasal sinus-computed tomography of all cases with acromegaly and control subjects were obtained to measure the length of internal acoustic canal (IAC). RESULTS: PTA values were higher (p < 0.001 for right ears and p = 0.001 for left ears), and SD scores were (p = 0.002 for right ears and p = 0.002 for left ears) lower in acromegalic patients. IAC width in acromegaly group was narrower compared to that in control group (p = 0.03 for right ears and p = 0.02 for left ears). When only cases with acromegaly were taken into consideration, PTA values in left ears had positive correlation with growth hormone and insulin-like growth factor-1 levels (r = 0.4, p = 0.02 and r = 0.3, p = 0.03). Of all cases with acromegaly 13 (32%) had hearing loss in at least one ear, 7 (54%) had sensorineural type and 6 (46%) had conductive type hearing loss. CONCLUSION: Acromegaly may cause certain changes in the auditory system in cases with acromegaly. The changes in the auditory system may be multifactorial causing both conductive and sensorioneural defects.


Assuntos
Acromegalia/complicações , Perda Auditiva/diagnóstico , Perda Auditiva/etiologia , Adulto , Audiometria de Tons Puros , Estudos de Casos e Controles , Feminino , Perda Auditiva/metabolismo , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Pessoa de Meia-Idade , Prognóstico
5.
Eur Rev Med Pharmacol Sci ; 20(5): 906-11, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27010149

RESUMO

OBJECTIVE: Post-pericardiotomy syndrome (PPS) occurs in 10-40% of patients after cardiac surgery. PPS is considered an autoimmune phenomenon. The neutrophil-to-lymphocyte ratio (NLR) is a novel inflammatory marker that is associated with various cardiovascular diseases. Studies have reported that the NLR increases in certain autoimmune diseases. This study examined whether the NLR is helpful to predict the occurrence of PPS after elective on-pump coronary artery bypass graft (CABG) surgery. PATIENTS AND METHODS: The records of patients who underwent elective first-time on-pump CABG were reviewed retrospectively. In total, 72 patients with PPS were included in the study, and 100 patients who did not develop PPS were included as the control group. Peripheral blood samples collected preoperatively and on postoperative day 1 were used to calculate the NLR. RESULTS: No differences in preoperative white blood cell (WBC) count, neutrophil count, lymphocyte count, or NLR were observed between the patients with PPS and the control group. The WBC (p < 0.001) and neutrophil counts (p < 0.001) and NLR (p = 0.01) were significantly higher during the postoperative period in patients with PPS than in the control group. A receiver operating characteristic curve analysis showed that the postoperative NLR predicted PPS with 60% sensitivity and 59% specificity (area under the curve, 0.61; 95% confidence interval [CI], 0.51-0.70; p = 0.017), using a cut-off of 8.34. The postoperative WBC count (odds ratio [OR], 1.6; 95% CI, 1.36-2.03; p < 0.001) and NLR (OR, 3.3; 95% CI, 1.56-7.01; p = 0.002) were independently associated with PPS. CONCLUSIONS: The postoperative NLR may be useful to predict the development of PPS in patients undergoing on-pump CABG.


Assuntos
Linfócitos/patologia , Neutrófilos/patologia , Pericardiectomia/efeitos adversos , Síndrome Pós-Pericardiotomia/diagnóstico , Idoso , Biomarcadores/sangue , Ponte de Artéria Coronária/efeitos adversos , Feminino , Humanos , Contagem de Leucócitos , Masculino , Pessoa de Meia-Idade , Síndrome Pós-Pericardiotomia/sangue , Prognóstico , Estudos Retrospectivos
6.
Eur Rev Med Pharmacol Sci ; 20(3): 514-9, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26914128

RESUMO

OBJECTIVE: Postpericardiotomy syndrome (PPS) occurs in 10-40% of patients after cardiac operations. Pericardial effusions and tamponade occurring > 7 days after surgery are usually related to PPS and remain an important cause of cardiac surgery-related morbidity and mortality; therefore, preventing PPS is important. Colchicine affords safe and efficacious protection against PPS and related complications. However, the roles of corticosteroids and nonsteroidal anti-inflammatory drugs in PPS prevention remains unclear. This study aimed to determine whether the intraoperative use of single-dose methylprednisolone can effectively prevent PPS. PATIENTS AND METHODS: This retrospective study included 100 patients undergoing elective coronary artery bypass grafting (CABG) who received a single intraoperative dose of 1 mg/kg methylprednisolone. A further 100 patients undergoing CABG, who were not given methylprednisolone, comprised the control group. The presence and severity of pericardial effusion was determined by echocardiography, with chest X-ray used to assess pleural effusion. RESULTS: PPS occurrence and pericardial effusion occurrence were significantly lower in patients who received methylprednisolone (p = 0.02 and p = 0.007 respectively). Although the differences were not statistically significant, pericardial and pleural effusions were more severe in the control group than in the methylprednisolone group. Logistic regression analysis demonstrated that methylprednisolone administration was independently associated with prevention of PPS (OR 0.8, 95% CI 0.25-0.91, p <  0.026). CONCLUSIONS: Intraoperative, single-dose methylprednisolone may confer protection against PPS in patients undergoing CABG.


Assuntos
Anti-Inflamatórios/administração & dosagem , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Cuidados Intraoperatórios/métodos , Metilprednisolona/administração & dosagem , Síndrome Pós-Pericardiotomia/diagnóstico , Síndrome Pós-Pericardiotomia/prevenção & controle , Idoso , Ponte de Artéria Coronária/efeitos adversos , Ecocardiografia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome Pós-Pericardiotomia/etiologia , Estudos Retrospectivos
8.
Oral Dis ; 20(1): 109-13, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23444976

RESUMO

OBJECTIVE: The aim of this study was to evaluate the effects of Nigella sativa (N.S.) oil against radiation-induced oxidative stress in the rat tongue. MATERIAL AND METHODS: Thirty-two Sprague-Dawley rats were randomly divided into four equal groups. Group 1 [control group(C)] did not receive N.S. oil or irradiation. Group 2 [sham control group(CN)] did not receive N.S. oil or irradiation but received 1-ml saline orally, plus sham irradiation. Group 3 [irradiation group(R)] received irradiation, plus 1-ml saline orally. Group 4 [irradiation plus N.S. oil group(RN)] received irradiation plus 1 g kg(-1) per day of N.S. oil orally for 10 days. The animals were euthanized on day 10, and tongue tissues were collected for evaluating biochemical oxidative parameters. RESULTS: The oxidative stress index, total oxidant status and lipid hydroperoxides levels in the R group were statistically higher than those in the C, CN and RN groups. The paraoxonase levels in the R group were statistically lower than those in the C, CN and RN groups. No statistically significant differences were detected between any of the groups, in terms of total antioxidant status and the arylesterase, ceruloplasmin and total sulfhydryl group levels. CONCLUSION: Nigella sativa (N.S.) oil may be a beneficial agent in protecting against ionizing radiation-related tissue injury.


Assuntos
Estresse Oxidativo/efeitos dos fármacos , Estresse Oxidativo/efeitos da radiação , Óleos de Plantas/uso terapêutico , Lesões por Radiação/prevenção & controle , Língua/efeitos dos fármacos , Língua/lesões , Animais , Óleos de Plantas/farmacologia , Ratos , Ratos Sprague-Dawley
9.
J Laryngol Otol ; 127(9): 842-7, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23967852

RESUMO

OBJECTIVE: This study aimed to compare the hearing results of incus interposition and bone cement ossiculoplasty in patients with incus long process defects. MATERIALS AND METHODS: Ninety-nine patients with incus long process defects were included. Incus interposition was performed in 49 patients (group 1) and bone cement ossiculoplasty was performed in 50 patients (group 2). Group 1 included 29 female and 20 male patients, with a mean age ± standard deviation of 29.43 ± 12.5 years (range, 8­58 years). Group 2 comprised 32 female and 18 male patients, with a mean age ± standard deviation of 29.1 ± 14.89 years (range, 8­67 years). RESULTS: The mean hearing gain ± standard deviation was 15.2 ± 9.01 dB in group 1 and 19.36 ± 9.08 dB in group 2. Hearing gain was significantly greater in the bone cement group than in the incus interposition group (p = 0.0186). Successful hearing results (i.e. air­bone gap < 20 dB) were achieved by 63.2 per cent of group 1 patients and 78 per cent of group 2 patients. CONCLUSION: Incus interposition and bone cement ossiculoplasty are safe and reliable methods with which to manage incus long process defects. Bone cement ossiculoplasty gives a greater hearing gain in appropriate cases.


Assuntos
Cimentos Ósseos , Perda Auditiva Condutiva/cirurgia , Audição/fisiologia , Bigorna/cirurgia , Substituição Ossicular/métodos , Adolescente , Adulto , Idoso , Audiometria de Tons Puros , Estudos de Casos e Controles , Criança , Feminino , Humanos , Bigorna/anormalidades , Masculino , Pessoa de Meia-Idade , Procedimentos de Cirurgia Plástica/métodos , Estudos Retrospectivos , Cirurgia do Estribo , Estatísticas não Paramétricas , Resultado do Tratamento , Adulto Jovem
10.
Eur Rev Med Pharmacol Sci ; 16(6): 770-4, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22913209

RESUMO

INTRODUCTION: The aim of this study was to evaluate the serum paraoxonase (PON), arylesterase activities, lipid hydroperoxide (LOOH), sulfhydryl (-SH), and ceruloplasmin (Cp) levels, total antioxidant status (TAS), total oxidant status (TOS), and oxidative stress index (OSI) in adults with obstructive sleep apnea syndrome (OSAS) and to determine whether these oxidant and antioxidant levels can be used as OSAS markers. The results were compared with measurements from healthy control subjects. METHODS AND METHODS: This study was a prospective, controlled trial including 26 OSAS patients and 35 healthy controls (61 subjects total). Peripheral venous blood samples were taken from the OSAS patients and from the healthy volunteers. The serum PON, arylesterase activities LOOH, -SH, Cp, TAS, TOS, and OSI levels were measured. RESULTS: LOOH and Cp levels were higher in the OSAS group than in the control group (p < 0.01). The -SH levels were lower in the OSAS group than in the control group (p < 0.01). The PON and arylesterase enzyme activity levels were lower in the OSAS group than in the control group (p < 0.05). The TOS and OSI levels were significantly higher in the OSAS group (p < 0.01), while their TAS levels were significantly lower (p < 0.01) compared with the control group. CONCLUSIONS: Patients with OSAS have increased systemic oxidative stress and reduced levels of circulating antioxidant enzymes. Oxidative stress appears to be an underlying condition associated with OSAS.


Assuntos
Arildialquilfosfatase/sangue , Hidrolases de Éster Carboxílico/metabolismo , Apneia Obstrutiva do Sono/metabolismo , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Oxirredução , Estresse Oxidativo , Estudos Prospectivos , Espécies Reativas de Oxigênio/metabolismo
11.
Eur Rev Med Pharmacol Sci ; 16(2): 220-3, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22428473

RESUMO

BACKGROUNDS AND OBJECTIVE: The hearing assessment of the newborns ideally should detect both middle and inner ear functions. The aim of this study is to control the association between otoscopic evaluation, multifrequency tympanometry and TEOAE results. METHODS: Fifty new-borns otherwise healthy were tested after the otolaryngological evaluation by 226 and 1000 Hz tympanometries and transient evoked otoacoustic emissions (TEOAE's). The study was performed in three steps and 17 babies that could not pass from the first step they were tested in the second step with the same tests (226 Hz and 1000 Hz tympanometry and TEOAE) The babies that could not pass from the second step were evaluated by multifrequency tympanometries, TEOAE and acoustic brainstem responses (ABR) at the third step. RESULTS: The association between the results obtained from otoscopic evaluation, multifrequency tympanometry and TEOAE were assessed. We found that 1000 Hz tympanometry results were more sensitive and gives more correlated with TEOAE and otoscopic evaluation. CONCLUSIONS: Multifrequency tympanometry can detect the middle ear pathologies of the infants sensitively and should be a part of neonatal hearing screening test battery.


Assuntos
Testes de Impedância Acústica/métodos , Testes Auditivos/métodos , Triagem Neonatal/métodos , Peso ao Nascer/fisiologia , Encéfalo/anatomia & histologia , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Feminino , Humanos , Recém-Nascido , Masculino , Emissões Otoacústicas Espontâneas/fisiologia
12.
Int J Lab Hematol ; 34(1): 14-20, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21914140

RESUMO

Measurement of the Haemoglobin F in red cell haemolysates is important in the diagnosis of 뫧 thalassaemia, hereditary persistence of fetal haemoglobin (HPFH) and in the diagnosis and management of sickle cell disease. The distribution of Hb F in red cells is useful in the diagnosis of HPFH and in the assessment of feto-maternal haemorrhage. The methods of quantifying Hb F are described together with pitfalls in undertaking these laboratory tests with particular emphasis on automated high-performance liquid chromatography and capillary electrophoresis.


Assuntos
Hemoglobina Fetal/análise , Talassemia/diagnóstico , Álcalis , Cromatografia Líquida de Alta Pressão/métodos , Eletroforese Capilar/métodos , Citometria de Fluxo/métodos , Humanos , Imunodifusão/métodos , Desnaturação Proteica , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Manejo de Espécimes/métodos
13.
Int J Lab Hematol ; 34(1): 1-13, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21974826

RESUMO

Although DNA analysis is needed for characterization of the mutations that cause ß-thalassaemia, measurement of the Hb A(2) is essential for the routine identification of people who are carriers of ß-thalassaemia. The methods of quantitating Hb A(2) are described together with pitfalls in undertaking these laboratory tests with particular emphasis on automated high-performance liquid chromatography and capillary electrophoresis.


Assuntos
Hemoglobina A2/análise , Talassemia beta/diagnóstico , Cromatografia Líquida de Alta Pressão/métodos , Eletroforese Capilar , Heterozigoto , Humanos , Valores de Referência , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Manejo de Espécimes/métodos , Terminologia como Assunto , Talassemia beta/genética
14.
Clin Exp Rheumatol ; 23(5): 701-3, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16173251

RESUMO

OBJECTIVE: We aimed to assess otoacoustic emission (OAE) findings in fibromyalgia (FM) syndrome. METHODS: Thirty-two ears of 16 female patients with FM syndrome and 30 ears of 15 healthy female controls were also included in the study. Pure tone audiometry, speech discrimination testing, tympanometry and otoacoustic emission testing (both transiently evoked and distortion product) were performed. RESULTS: There was no significant difference between the pure tone hearing results of the patients and controls (p > 0.05). There was no significant difference between the distortion-product-otoacoustic emission results of the patients and controls. Audiologic findings of the patients with and without otologic symptoms were not significantly different than controls (p > 0.05). CONCLUSION: Although FM patients generally have subjective symptoms related to ear, clinical or laboratory assessments usually fail to find out any objective finding related to these subjective symptoms. The otologic functions seem spared in FM syndrome.


Assuntos
Otopatias/diagnóstico , Fibromialgia/complicações , Adulto , Audiometria de Tons Puros , Otopatias/etiologia , Otopatias/fisiopatologia , Potenciais Evocados Auditivos/fisiologia , Feminino , Humanos , Pessoa de Meia-Idade , Emissões Otoacústicas Espontâneas/fisiologia , Testes de Discriminação da Fala
15.
Community Genet ; 8(1): 35-9, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15767753

RESUMO

The beta-thalassemia alleles in 313 national patients of the United Arab Emirates (UAE) have been characterized using PCR-based DNA-diagnostic techniques including DNA sequencing. A total of 212 patients had homozygous beta-thalassemia and the remaining 101 were compound heterozygotes. More than half of the patients were homozygous for the IVS-I-5 (G-->C) mutation followed by the sickle cell gene. The latter accounted for 25% of the chromosomes. In terms of frequency, five beta-thalassemia mutations; IVS-I-5 (G-->C), betaS, -25 bp del, Cd 8/9 (+G) and IVS-II-1 (G-->A) accounted for 83% of the alleles. In addition, 427 expatriate patients were studied: 256 with homozygous beta-thalassemia and 171 were compound heterozygotes. In both the UAE nationals and expatriates, the beta-thalassemia mutations and their frequency followed a similar trend. Our results indicate that the frequency of beta-globin gene defects including beta-thalassemia, sickle cell gene (betaS) and abnormal hemoglobins is significantly increased and poses a major public health problem in the UAE. The number of homozygous patients strongly suggests a high degree of consanguinity among the UAE nationals. With 50 different beta-thalassemia alleles, UAE is arguably the most heterogeneous population in the world. The diversity of these mutations reflects the historical admixture of genes and their migration from different areas in the region. Our data strongly suggest the need for a comprehensive thalassemia control program and provides a basis for population screening, genetic counseling and prenatal diagnosis.


Assuntos
Variação Genética , Genética Populacional , Talassemia beta/genética , Análise Mutacional de DNA , Aconselhamento Genético , Testes Genéticos , Humanos , Reação em Cadeia da Polimerase , Emirados Árabes Unidos
16.
Hemoglobin ; 25(2): 247-53, 2001 May.
Artigo em Inglês | MEDLINE | ID: mdl-11480786

RESUMO

The use of modern DNA techniques enabled us to characterize and identify 44 distinct beta-thal mutations and nine alpha-thal genotypes in the UAE population. All of the beta-thal mutations were severe beta+ or beta0 types resulting in transfusion-dependent phenotypes. Furthermore, a large number of alphaT alleles in the alpha-thal carriers and in patients with Hb H disease, accentuate the importance of Hb H disease as a public health problem. The overall data presented here will be useful for genetic counseling, pre-marital carrier screening and the establishment of a comprehensive prenatal diagnosis program.


Assuntos
Hemoglobinopatias/epidemiologia , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Consanguinidade , Emigração e Imigração , Hemoglobinopatias/etiologia , Hemoglobinopatias/genética , Humanos , Emirados Árabes Unidos/epidemiologia , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Talassemia beta/epidemiologia , Talassemia beta/genética
17.
Acta Haematol ; 100(1): 49-53, 1998.
Artigo em Inglês | MEDLINE | ID: mdl-9691147

RESUMO

A neonatal screening survey of alpha-thalassemia (alpha-thal) among the United Arab Emirates (UAE) nationals was conducted on 418 consecutive cord blood samples. Our findings demonstrate that 49% of the cases studied were found with an alpha-globin gene defect. The gene frequency of the -alpha3.7 was 0.2847 and that of the -alpha4.2 was 0.0072. Four nondeletional alpha-thal mutations were found; alphaPA-1, alphaPA-2, Hb CS and alpha-5nt del with gene frequencies of 0.0036, 0.0012, 0.0024, and 0.0072, respectively. We also report here the genotype-phenotype correlation in 22 patients with Hb H disease or Hb H-like syndrome. Of these, 6 were homozygous for the alphaPA-1 mutation, 2 were homozygous for Hb CS, and 14 were compound heterozygous for either alphaPA-1, Hb CS, alpha-5nt del or --MED-I, with the -alpha3.7. The data reported here demonstrate that a considerable heterogeneity of alpha-thal mutations occurs in the UAE and that the incidence of alpha-thal in the indigenous population is one of the highest in the world. Our clinical data suggest that Hb H disease in the UAE has, in general, a mild to moderate phenotypic presentation.


Assuntos
Globinas/genética , Mutação , Triagem Neonatal , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Frequência do Gene , Humanos , Recém-Nascido , Emirados Árabes Unidos/epidemiologia , Talassemia alfa/prevenção & controle
18.
Pediatr Hematol Oncol ; 15(3): 237-42, 1998.
Artigo em Inglês | MEDLINE | ID: mdl-9615321

RESUMO

We have identified the beta s-globin gene haplotypes of 85 patients with sickle cell disease attending the Dubai Thalassemia Center and assessed the influence of haplotype, alpha-thalassemia, and fetal hemoglobin on the clinical presentation. Identification of the beta s haplotypes was based on mutation analyses in the promoter sequences of the G gamma- and A gamma-globin genes. The Arabian-Indian haplotype was found in 52% of the beta s chromosomes, whereas the remaining were the Bantu and Benin haplotypes. Those with the Arabian-Indian haplotype in this group had a significantly higher fetal hemoglobin (Hb F) level (mean 27%) and a milder clinical course. In contrast, those with the African haplotypes, Bantu and Benin, expressed relatively lower Hb F levels (mean 11.3%), with a severe clinical presentation. Coinheritance of alpha-thalassemia trait in the African haplotypes had an ameliorating effect on hemolytic episodes, but vaso-occlusive crises were more frequent.


Assuntos
Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Globinas/genética , Haplótipos , Humanos , Fenótipo , Emirados Árabes Unidos/epidemiologia
20.
Hemoglobin ; 21(1): 41-51, 1997 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9028822

RESUMO

A total of 25 unrelated Hb H patients were studied at the DNA level. Ten different genotypes were found to be responsible for the disease. The most prevalent alpha-thalassemia-2 determinant was the alpha alpha/-alpha (3.7) kb deletion (56%) which was followed by a nondeletional type of alpha-thalassemia, namely the pentanucleotide deletion in the 5' first intervening sequence splice junction [alpha(-5nt) alpha] (16%). The two most frequent alpha-thalassemia-1 determinants were alpha alpha/-20.5 kb and alpha alpha/-17.5 kb (MED-I) deletions. In two patients, homozygosity for the polyadenylation signal mutation [alpha (PA-2)alpha] was found to be responsible for Hb H disease. Clinical and hematological expression seems more severe in patients with the alpha (-5nt) alpha deletion at the donor site of the first intervening sequence and the alpha(PA-2) alpha mutation in trans to an alpha-thalassemia-1 determinant. Homozygosity for the alpha (PA-2)alpha mutation was also found to be associated with severe phenotype.


Assuntos
Hemoglobina H/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Genótipo , Testes Hematológicos , Humanos , Masculino , Fenótipo , Turquia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA