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1.
J Laryngol Otol ; 137(8): 930-933, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36515068

RESUMO

BACKGROUND: Choanal atresia is a congenital obstruction of the posterior nasal aperture. Endoscopic endonasal surgery has led to successful choanal atresia repair. This paper describes our surgical technique using septal mucosal flaps without the need for stenting. METHODS: This study comprised a multicentre retrospective review of patient notes. A cross-over septal technique is described, whereby bilateral vertical mucosal incisions are made at the posterior third of the septum, and the atretic plate and posterior vomer are removed. One flap is pedicled superiorly and rotated over the bare skull base and sphenoid bone; the contralateral flap is pedicled inferiorly to cover the exposed vomer remnant and hard palate. RESULTS: There were 12 patients from 2013 to 2020, aged 0.07-50 years, with a male to female ratio of 1:5. Ten patients had unilateral and two had bilateral choanal atresia. Nine patients had bony choanal atresia, with the remainder mixed. CONCLUSION: The cross-over technique for choanal atresia has low morbidity and 100 per cent success in our series. The use of mucoperiosteal flaps to cover exposed bone and minimal instrumentation to the lateral nasal wall reduce post-operative stenosis.


Assuntos
Atresia das Cóanas , Humanos , Masculino , Feminino , Atresia das Cóanas/cirurgia , Endoscopia/métodos , Cavidade Nasal , Retalhos Cirúrgicos , Complicações Pós-Operatórias
2.
Spinal Cord ; 49(9): 967-73, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21606931

RESUMO

STUDY DESIGN: Experimental investigation of intrathecal transplantation of stem cells by lumbar puncture (LP) in a rat model that simulates human thoracic spinal cord injury (SCI). OBJECTIVES: To examine the distribution and phenotype of spinal cord-derived neural stem/progenitor cells (NSPCs) and bone marrow-derived mesenchymal stromal cells (BMSCs) following LP transplantation in SCI rats. SETTING: Toronto Western Research Institute, Toronto, Ontario, Canada. METHODS: NSPCs or BMSCs were transplanted via LP at level L3-5 1 week after compression SCI at T8. Rats were killed at 3, 17 and 27 days after LP transplantation and the relative distribution of cells at C4, T8 and L3-5 was quantitated. The phenotype of the NSPC and BMSC was assessed with immunocytochemistry in vitro and following LP transplantation. RESULTS: By 4 weeks, more NSPC migrated to the lesion site relative to BMSC and uninjured animals. However, there was no preferential homing of either of these types of cells into the parenchyma of the injury site, and most of the transplanted cells remained in the intrathecal space. In vitro, spinal cord-derived NSPC proliferated and expressed nestin, but after LP transplantation, NSPC became post-mitotic and primarily expressed oligodendrocyte markers. In contrast, BMSC did not express any neural antigens in vivo. CONCLUSION: LP is a minimally invasive method of cell transplantation that produces wide dissemination of cells in the subarachnoid space of the spinal cord. This is the first study to report and quantify the phenotype and spatial distribution of LP transplanted NSPC and BMSC in the intact and injured spinal cord.


Assuntos
Injeções Espinhais/métodos , Transplante de Células-Tronco Mesenquimais , Células-Tronco Neurais/transplante , Traumatismos da Medula Espinal/cirurgia , Punção Espinal/métodos , Transplante de Células-Tronco/métodos , Animais , Células da Medula Óssea/citologia , Células da Medula Óssea/patologia , Células Cultivadas , Modelos Animais de Doenças , Feminino , Células-Tronco Mesenquimais/patologia , Células-Tronco Neurais/patologia , Ratos , Ratos Transgênicos , Ratos Wistar , Traumatismos da Medula Espinal/patologia , Vértebras Torácicas/lesões , Vértebras Torácicas/patologia
3.
Chemotherapy ; 56(5): 359-63, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20926859

RESUMO

In 2002, antimicrobial drugs were the most frequently prescribed drugs in Turkey. On February 15, 2003, the Turkish Government implemented a new Budget Application Instruction (BAI) to promote rational antibiotic usage in order to decrease the costs. This BAI restricted the reimbursement of certain antibiotics without prescription or approval by the infectious diseases specialists (IDS). The purpose of this study is to evaluate the effect of BAI on antibiotic consumption for the 3 years before and 2 years after its implementation, according to IMS Health Office findings. Based on the data of the IMS Health Turkey Office, the amount of some broad-spectrum antibiotics (piperacillin/tazobactam, imipenem, meropenem, cefoperazone/sulbactam, ceftazidime, cefepime, teicoplanin, vancomycin, and amphotericin B) that were prescribed by IDS between 2000 and 2002 and between 2003 and 2004 are determined. The Anatomical Therapeutic Chemical classification and the defined daily dose (DDD)/1,000 methodology are used to calculate antibiotic consumption. Total antibiotic consumption before BAI, in 2000, 2001 and 2002 was 0.091, 0.107 and 0.119 DDD/1,000 inhabitant-days, respectively, and after BAI, in 2003 and 2004, 0.137 and 0.135 DDD/1,000 inhabitant-days, respectively. Average utilization of antibiotics before the implementation of BAI was 0.105 DDD and increased to 0.136 DDD after BAI. Antibiotic consumption has increased 1.3-fold after the implementation of BAI. However, the effect of restricted antibiotic utilization was revealed especially in the second year after BAI. The consumption of antimicrobials decreased to 0.135 in 2004 while it was 0.137 in 2003.


Assuntos
Anfotericina B/economia , Antibacterianos/economia , Glicopeptídeos/economia , Legislação de Medicamentos , Anfotericina B/uso terapêutico , Antibacterianos/uso terapêutico , Uso de Medicamentos/legislação & jurisprudência , Uso de Medicamentos/estatística & dados numéricos , Glicopeptídeos/uso terapêutico , Humanos , Turquia , beta-Lactamases/metabolismo
4.
Gen Physiol Biophys ; 27(1): 32-7, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18436981

RESUMO

In this study we investigated whether pretreatment with melatonin was protective against the injury of the central nervous system (CNS) in rats receiving LD(50) whole body irradiation. The wistar rats were randomized into four groups: i) the control group (CG), ii) melatonin-administered group (MG; 1 mg/kg body weight), iii) irradiated group (RG; 6.75 Gy, one dose), and iv) melatonin-administered and irradiated group (MRG). Blood samples were drawn from the rats 24 h after the treatment and plasma glutathione levels were assayed. Plasma glutathione level was significantly higher in RG than CG. The melatonin pretreatment prevented GSH increase induced by irradiation. Lipid peroxidation and glutathione levels of rat cerebral cortex were determined in all groups after 24 h. Cortical malondialdehyde (MDA) was significantly higher in the RG. The melatonin pretreatment prevented cortical MDA increase induced by irradiation. Cortical GSH was significantly lower in RG than the CG. The melatonin pretreatment prevented cortical GSH decrease induced by irradiation. Tissue samples were obtained from cerebral cortex and hypothalamus which also were affected by ionizing irradiation in the CNS and were evaluated with electron microscopy. Histopathological findings showed that LD(50) whole body irradiation resulted in damage of the neuronal cells of CNS. The results obtained from this study demonstrated that pretreatment with melatonin prevented the damage that develops in CNS following irradiation. The beneficial effect of melatonin can be related to protection of the CNS from oxidative injury and preventing the decrease in the level of cortical glutathione.


Assuntos
Sistema Nervoso Central/efeitos dos fármacos , Sistema Nervoso Central/efeitos da radiação , Glutationa/sangue , Malondialdeído/metabolismo , Melatonina/farmacologia , Protetores contra Radiação/farmacologia , Animais , Sistema Nervoso Central/metabolismo , Córtex Cerebral/efeitos dos fármacos , Córtex Cerebral/metabolismo , Córtex Cerebral/efeitos da radiação , Hipotálamo/efeitos dos fármacos , Hipotálamo/metabolismo , Hipotálamo/efeitos da radiação , Hipotálamo/ultraestrutura , Microscopia Eletrônica de Transmissão , Ratos , Ratos Wistar , Irradiação Corporal Total/efeitos adversos
5.
Int J Surg ; 53: 80-85, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29555523

RESUMO

Epidural fibrosis is a challenging topic in spinal surgery. Numerous clinical and experimental studies have been focused on this issue to clarify problems faced in spinal procedures for the patient as well as the surgeon and find out new methodologies. Dense cytokines and growth factors which are released from inflammatory cells have been suggested to play a major role in the inception and progression of fibrosis. One of the most investigated and important actor in epidural fibrosis is assumed to be the transforming growth factor-1ß (TGF-1ß) formation. Studies showed that Dexmedetomidine (DEX) downregulates TGF-ß pathway with its anti-inflammatory and antioxidant effects. From this point of view, for the first time in the literature we try to observe if there will be an effect of topical DEX administration over epidural fibrosis in a rat model. We hypothesized that DEX might have preventive effects on epidural fibrosis via anti-inflammatory and antioxidant effects. Twenty-four adult male Wistar albino rats were randomly assigned to three groups (Topical DEX, Spongostan, Laminectomy). A total laminectomy was performed at the L3-L5 level and then the ligamentum flavum and epidural fat tissue were cleared away from the surgical site. Histopathological assessment was performed postoperatively after 4 weeks. Our study revealed that topical DEX administration may have effects on reducing epidural fibrosis. Topical DEX administration may be helpful in preventing epidural fibrosis after laminectomy in rats through multiple anti-inflammatory and antioxidant mechanisms as well as through TGF -1ß pathway.


Assuntos
Agonistas de Receptores Adrenérgicos alfa 2/farmacologia , Dexmedetomidina/farmacologia , Espaço Epidural/patologia , Laminectomia/efeitos adversos , Complicações Pós-Operatórias/prevenção & controle , Administração Tópica , Animais , Modelos Animais de Doenças , Fibrose , Masculino , Complicações Pós-Operatórias/etiologia , Ratos , Ratos Wistar , Resultado do Tratamento
6.
Gen Physiol Biophys ; 26(2): 126-32, 2007 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17660587

RESUMO

This study was undertaken to test the effect of irradiation on the histopathology of the hypothalamus and cerebral cortex. In addition, the probable effects of radiotherapy on the activities of antioxidant enzymes and levels of nitric oxide (NO) in the plasma were investigated as well. The effects of melatonin treatment on radiotherapy-based central nervous system (CNS) damage were also studied. For this purpose, the rats were randomized into four groups. The first group was the control group (sham-exposed group), the second group received only melatonin, the third group was irradiated and the fourth group received both melatonin and irradiation. Plasma samples of rats were collected for measuring the activities of superoxide dismutase (SOD), catalase (CAT) and the levels of NO. 24 h after the interventions, tissue samples were obtained from the hypothalamus and the cerebral cortex for the light microscopic investigations. These tissues were mostly affected by radiation. The results indicated that the application of radiation significantly enhanced the levels of plasma SOD and NO. On the other hand, melatonin pretreatment prevented the decrease in plasma CAT activity induced by irradiation. It was found that the application of melatonin could significantly prevent the irradiation-induced damages. Light microscopic results revealed that the damage of the CNS by radiation was prevented by the application of melatonin.


Assuntos
Antioxidantes/farmacologia , Raios gama , Melatonina/farmacologia , Estresse Oxidativo , Animais , Catalase/sangue , Catalase/efeitos dos fármacos , Catalase/metabolismo , Catalase/efeitos da radiação , Córtex Cerebral/efeitos dos fármacos , Córtex Cerebral/patologia , Córtex Cerebral/efeitos da radiação , Córtex Cerebral/ultraestrutura , Sequestradores de Radicais Livres/metabolismo , Sequestradores de Radicais Livres/efeitos da radiação , Hipotálamo/efeitos dos fármacos , Hipotálamo/patologia , Hipotálamo/efeitos da radiação , Hipotálamo/ultraestrutura , Dose Letal Mediana , Óxido Nítrico/sangue , Óxido Nítrico/metabolismo , Óxido Nítrico/efeitos da radiação , Estresse Oxidativo/efeitos dos fármacos , Estresse Oxidativo/efeitos da radiação , Protetores contra Radiação/farmacologia , Ratos , Ratos Wistar , Superóxido Dismutase/sangue , Superóxido Dismutase/efeitos dos fármacos , Superóxido Dismutase/metabolismo , Superóxido Dismutase/efeitos da radiação
7.
Biochim Biophys Acta ; 1316(3): 176-82, 1996 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-8781536

RESUMO

We have analyzed the alpha 2/alpha 1-, alpha/beta-, zeta/(alpha + zeta)-mRNA ratios in the retic-ulocytes of 40 patients with Hb H disease. 21 patients had deletional Hb H disease (- -/- alpha), namely combinations of one of four types of alpha-thal-1 (MED-I, MED-II, -(alpha)20.5, SEA) and one of two types of alpha-thal-2 (-3.7 or -4.2 kb); 13 had Hb H disease because of combinations of one of these alpha-thal-1 deletions with either a 5 nt deletion at the 5' splicing site of IVS-I, or a terminating codon mutation (Hb CS), or a poly(A) mutation, and six were homozygous for either a poly(A) mutation or the 5 nt deletion. Significant differences were observed between the deletional types (- -/- alpha; alpha 2/alpha 1 ratio of zero; alpha/beta ratio of approximately 1) and non-deletional types (- -/alpha T alpha; alpha 2/alpha 1 ratio of 0.05-0.3 for those with T = the 5 nt deletion or the terminating codon mutant, and approximately 1.0 for those with T = a poly(A) mutation; alpha/beta ratio in all types of approximately 0.7). Comparable data were found for the nondeletional alpha-thal-2 homozygotes. The noted differences were highly significant and the determination of the two ratios may be diagnostically of considerable value. The low alpha 2/alpha 1-mRNA ratio in the two patients with - -/alpha-5nt alpha and the one patient with alpha-5nt alpha/alpha-5nt alpha indicates the presence of minute amounts of alpha 2-mRNA; apparently splicing at the donor site is greatly impaired by this deletion but not eliminated. The high alpha 2/alpha 1-mRNA ratio in the four patients with - -/alpha PA-2 alpha and the five patients with alpha PA-1 alpha/ alpha PA-1 alpha (PA-1 and PA-2 are poly(A) mutations) is due to the presence of an elongated alpha 2-mRNA which uses an alternate location as polyadenylation site. The relative levels zeta-mRNA varied considerably; the highest levels were found in patients with the -(alpha)20.5/-alpha or - -SEA/-alpha deletional types but not in those with the -(alpha)20.5/alphaPA-2 alpha, -(alpha)20.5/alpha-5nt alpha, or - -SEA/alphaCS alpha nondeletional types. No definitive explanation can be given for these differences; perhaps certain sequences that are part of some of the alpha-thal-1 deletions are important for the suppression of the zeta-globin gene.


Assuntos
Globinas/genética , Talassemia alfa/genética , Adolescente , Adulto , Sequência de Bases , Criança , Pré-Escolar , Primers do DNA , Expressão Gênica , Humanos , Lactente , Pessoa de Meia-Idade , Dados de Sequência Molecular , RNA Mensageiro/genética , Reticulócitos , Deleção de Sequência
8.
Mikrobiyol Bul ; 39(2): 225-8, 2005 Apr.
Artigo em Turco | MEDLINE | ID: mdl-16128035

RESUMO

Leuconostoc species, which are the members of Streptococcaceae family, have recently been recognized as potential pathogens. They usually cause infections in patients with underlying disease, with venous catheters or previously treated with vancomycin. In this report, we have presented two cases of Leuconostoc bacteremia. The first case was a 42 years old male patient who was diagnosed to have colon adenocarcinoma. He had undergone colon, stomach and distal pancreas resection operation and had given chemotherapy. Blood and catheter cultures yielded methicillin-resistant Staphylococcus aureus. Blood cultures were repeated since teicoplanin therapy had failed, and Gram positive cocci resistant to vancomycin were isolated. The other case was a 26 years old male patient who had undergone a shunt operation because of pineal lesion and hydrocephaly. He had given ampirical vancomycin therapy since he had post-operative high fever, however the therapy had failed. The catheter culture yielded Gram positive cocci resistant to vancomycin. Both isolates were identified as Leuconostoc spp. with API 20 strep identification kit (Bio Merieux), and both of them were found sensitive to penicillin, ampicillin, clindamycin, gentamicin and chloramphenicol, while they were resistant to teicoplanin and vancomycin. The patients were successfully treated with clindamycin. It is concluded that, Leuconostoc spp. should be considered when vancomycin-resistant organisms resembling streptococci are isolated from blood cultures.


Assuntos
Antibacterianos/farmacologia , Bacteriemia/microbiologia , Clindamicina/farmacologia , Infecções por Bactérias Gram-Positivas/microbiologia , Leuconostoc/isolamento & purificação , Adulto , Antibacterianos/uso terapêutico , Bacteriemia/tratamento farmacológico , Cateteres de Demora/microbiologia , Clindamicina/uso terapêutico , Infecções por Bactérias Gram-Positivas/tratamento farmacológico , Humanos , Leuconostoc/efeitos dos fármacos , Masculino , Complicações Pós-Operatórias/tratamento farmacológico , Complicações Pós-Operatórias/microbiologia , Resistência a Vancomicina
9.
Clin Rheumatol ; 22(4-5): 336-8, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14576995

RESUMO

Thrombosis in the venous or arterial system is quite common in systemic lupus erythematosus (SLE). We describe a young female patient whose first presentation was in the form of deep venous thrombosis of the right lower extremity. Her family history for thrombosis was positive and further studies revealed her to have SLE. Genetic studies showed that she had thrombophilic mutations of factor V, prothrombin and methylene tetrahydrofolate reductase genes. Her therapeutic response to anticoagulant therapy was satisfactory. The presence of inherited thrombophilic mutations must be searched for in SLE patients with thrombosis, especially in cases with a positive family history.


Assuntos
Predisposição Genética para Doença , Lúpus Eritematoso Sistêmico/genética , Mutação , Protrombina/genética , Trombofilia/genética , Trombose Venosa/genética , Adolescente , Corticosteroides/uso terapêutico , Quimioterapia Combinada , Feminino , Fibrinolíticos/uso terapêutico , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Prognóstico , Medição de Risco , Índice de Gravidade de Doença , Trombofilia/complicações , Trombofilia/diagnóstico , Resultado do Tratamento , Ultrassonografia Doppler , Trombose Venosa/complicações , Trombose Venosa/diagnóstico por imagem , Trombose Venosa/tratamento farmacológico
11.
Acta Neurochir (Wien) ; 147(1): 99-100; discussion 100, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15338341

RESUMO

'Silk cocoon' appearance on spinal angiography is pathognomonic to differentiate paragangliomas from several vascular tumors and malformations of cauda-filar region.


Assuntos
Cauda Equina , Paraganglioma/diagnóstico por imagem , Neoplasias do Sistema Nervoso Periférico/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Paraganglioma/patologia , Paraganglioma/cirurgia , Neoplasias do Sistema Nervoso Periférico/patologia , Neoplasias do Sistema Nervoso Periférico/cirurgia , Radiografia
12.
Neurosurg Rev ; 18(2): 123-6, 1995.
Artigo em Inglês | MEDLINE | ID: mdl-7478015

RESUMO

Intranasal encephaloceles are rarely encountered in pediatric neurosurgery. The symptoms and clinical features may mimic those of nasal polyp. It is important to know the type of basal encephalomeningocele for appropriate surgical intervention. Computed tomographic examination is helpful for differential diagnosis of the encephalocele sac and localization of the cranial bone defect.


Assuntos
Encefalocele/cirurgia , Osso Etmoide/anormalidades , Meningocele/cirurgia , Obstrução Nasal/cirurgia , Craniotomia , Diagnóstico Diferencial , Encefalocele/diagnóstico por imagem , Encefalocele/patologia , Osso Etmoide/patologia , Osso Etmoide/cirurgia , Feminino , Humanos , Recém-Nascido , Meningocele/diagnóstico por imagem , Meningocele/patologia , Obstrução Nasal/diagnóstico por imagem , Obstrução Nasal/patologia , Tomografia Computadorizada por Raios X
13.
Anaesth Intensive Care ; 30(5): 597-602, 2002 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-12413259

RESUMO

BACKGROUND AND AIM: The possibility of a potential mutagenic or carcinogenic action of chronic exposure to low concentrations of inhalational anaesthetics has been previously studied, with conflicting results. The purpose of this study was to assess whether occupational exposure to waste anaesthetic gases increases genotoxic risk. We examined peripheral lymphocytes from anaesthetists for both sister chromatid exchange (SCE) and for cells with high-frequency SCEs (HFCs). METHOD: A group of 16 non-smoking anaesthetists with occupational exposure to anaesthetic gases and a sex- and age-matched group matched 16 non-smoking matched physicians without occupational exposure to anaesthetic gases were studied. The participants were also selected on the basis of similar responses to a questionnaire assessing risk of genotoxicity relating to other aspects of life. RESULT: SCEs, and HFC percentages obtained from the exposed anaesthetists (6.6+/-2.4 and 12.2+/-15.9) were greater but not statistically significantly so than in the reference group (5.2+/-1.6 and 5.9+/-10.0). CONCLUSION: This study does not support the existence of an association between occupational exposure to waste anaesthetic gases and an increase in SCEs in lymphocytes. The nature of our anaesthesia practice suggests exposure was likely to be low. It should be noted that some anaesthetic gases produce lesions that can be efficiently repaired in mitogen-stimulated lymphocytes in vitro but not in circulating lymphocytes.


Assuntos
Poluentes Ocupacionais do Ar/efeitos adversos , Anestésicos Inalatórios/efeitos adversos , Troca de Cromátide Irmã/efeitos dos fármacos , Fumar/efeitos adversos , Adulto , Distribuição por Idade , Anestesiologia/métodos , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Monitoramento Ambiental , Feminino , Halotano/efeitos adversos , Humanos , Isoflurano/efeitos adversos , Linfócitos/fisiologia , Masculino , Concentração Máxima Permitida , Éteres Metílicos/efeitos adversos , Testes de Mutagenicidade , Salas Cirúrgicas , Probabilidade , Medição de Risco , Fatores de Risco , Sevoflurano , Distribuição por Sexo
14.
Br J Haematol ; 89(3): 496-9, 1995 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-7734346

RESUMO

We have determined the alpha-thalassaemia (alpha-thal) determinants in 78 patients with Hb H disease from Cyprus; 25 were Turkish Cypriots and 53 were Greek Cypriots. Four deletional and three non-deletional alpha-thal alleles were present; the -alpha(3.7 kb) alpha-thal-2 and the --MED-I alpha-thal-1 were most frequently seen; --MED-II and -(alpha)20.5 deletions occurred at considerably lower frequencies. About 15% of all chromosomes carried a non-deletional alpha-thal-2 allele; of these the 5 nucleotide (nt) deletion at the first intervening sequence (IVS-I) donor splice site was present in approximately 8% of all chromosomes. Two types of polyadenylation signal (poly A) mutations were observed. No striking frequency differences were seen between Greek and Turkish Cypriot patients. Combinations of the various types of alpha-thal resulted in eight different forms of Hb H disease. The phenotypes were comparable except for great variations in the level of Hb H which was highest (average approximately 22%) in the 12 patients with the alpha 5nt alpha/--MED-I combination. One patient with the same form of Hb H disease but with an additional beta-thal (IVS-I-110,G-->A) heterozygosity had a most severe microcytosis and hypochromia with < 1% Hb H. Variations in the level of Hb H might correlate with the severity of the disease, although this was not evident from the haematological data.


Assuntos
Deleção de Genes , Globinas/genética , Hemoglobina H/análise , Talassemia alfa/genética , Alelos , Chipre , Humanos , Mutação , Poli A/genética , Talassemia alfa/sangue
15.
Br J Haematol ; 81(4): 607-9, 1992 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-1390250

RESUMO

We have identified the beta-thalassaemia alleles in nearly all known Turkish Cypriot beta-thalassaemia homozygotes and in over 700 Greek Cypriot beta-thalassaemia heterozygotes living on the island of Cyprus. The data confirmed earlier observations that the IVS-I-100 (G-->A) mutation is present for about 74-80%, while three other alleles [IVS-II-745 (C-->G), IVS-I-6 (T-->C), IVS-I-1 (G-->A)] occur at frequencies of 5-8%. Nearly identical percentages were observed for the two Cypriot groups, quite different from those for beta-thalassaemia patients from Greece and Turkey. This suggests close contacts between the two Cypriot communities during many centuries without a major recent influence from Greek or Turkish beta-thalassaemia carriers.


Assuntos
Talassemia/genética , Alelos , Chipre , Grécia/etnologia , Humanos , Mutação , Turquia/etnologia
16.
Acta Haematol ; 88(2-3): 82-5, 1992.
Artigo em Inglês | MEDLINE | ID: mdl-1281602

RESUMO

We have identified 7 patients with Hb H disease as homozygotes for a mutation in the polyadenylation site (AATAAA-->AATAAG) and have compared their hematological data with those of Hb H patients having other types of alpha-thalassemia determinants. All 7 patients exhibited moderate anemia with microcytosis and hypochromia being similar to that observed in the other patients. Relatives with a heterozygosity for this mutation are borderline microcytic and hypochromic without a significant anemia but with a low in vitro alpha/beta chain synthesis ratio. Analyses of the hemoglobin components identified low levels of Hb A2 and Hb H that were comparable to those found in other patients with Hb H disease; the level of the zeta-chain was low (average 0.14%).


Assuntos
Globinas/genética , Mutação , Poli A/metabolismo , Talassemia alfa/genética , Adolescente , Adulto , Sequência de Bases , Criança , Consanguinidade , Índices de Eritrócitos , Feminino , Hemoglobina Fetal/análise , Hemoglobina A2/análise , Hemoglobina H/análise , Heterozigoto , Homozigoto , Humanos , Masculino , Dados de Sequência Molecular , Talassemia alfa/sangue
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