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1.
Niger J Clin Pract ; 25(6): 825-832, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35708424

RESUMEN

Background: Assessment of intravascular volume status is important in pediatric patients admitted to the emergency departments and pediatric intensive care units. Inferior vena cava (IVC) diameter and collapsibility index are used to evaluate the intravascular volume status in adults. The normal range of IVC diameter is available for adults and the normal range considered for adults is between 1.7 to 2.1 cm, but such normative data is limited for children of all ages. Aims: Our aim in this study was to obtain the IVC and the aorta diameter reference values and the mean vena cava collapsibility index in healthy and normovolemic children. Subjects and Methods: Vena cava inferior and aorta images in B mode were obtained. IVC diameter in the inspiratory and the largest IVC diameter in the expiratory were recorded, and the vena cava collapsibility index was calculated. Results: Ultrasonographic measurements were performed in total on 1938 children. A significant positive correlation was found between IVC and aorta diameters with age. The collapsibility index was found as 37.2% (SD 11.8) in the overall study population. In addition, the reference values for the IVC and aorta diameters obtained from the measurements were also acquired. Conclusions: We believe that our IVC and aorta diameter measurements obtained from a large number of participants may be used as reference values in emergency departments and intensive care units.


Asunto(s)
Aorta , Vena Cava Inferior , Adulto , Aorta/diagnóstico por imagen , Niño , Humanos , Unidades de Cuidados Intensivos , Estudios Prospectivos , Ultrasonografía/métodos , Vena Cava Inferior/diagnóstico por imagen
2.
Folia Morphol (Warsz) ; 77(4): 711-716, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29569700

RESUMEN

BACKGROUND: Medial depression of the mandibular ramus (MDMR) is an anatomical depression with unknown aetiology and described as a result of a slender mandibular ramus in the area of the mandibular notch. It is suggested that MDMR may be due to variations in muscle functions. The aim of this study is to compare the bite force of patients with and without MDMR detected on panoramic radiographs. MATERIALS AND METHODS: One hundred and ten patients (55 women and 55 men; mean age 22.69 ± 2.85 years) participated in this study. Patients were divided into two groups based on the presence of MDMR. Bite force of 55 patients with MRMD and 55 patients without MDMR were determined using a bite force sensor. Non-parametric tests were used to assess differences between groups. RESULTS: Measurements showed statistically significant differences in bite force between genders (p = 0.00) with men having higher values (535.98 ± 187.85 N) than women (363.59 ± 139.56 N). The mean bite force in the sides with and without MDMR was 538.19 ± 196.94 N and 396.22 ± 157.69 N, respectively. There was a statistically significant difference between groups with and without MDMR (p = 0.00). There was no statistically significant difference in bite force between groups according to Angle's classification (p = 0.581). CONCLUSIONS: This study suggests that the presence of MDMR may be an indicator of high muscle activity. Patients with MDMR should be carefully examined for the risk of relapse prior to any surgical intervention.


Asunto(s)
Fuerza de la Mordida , Mandíbula/anatomía & histología , Mandíbula/fisiología , Femenino , Humanos , Masculino , Mandíbula/diagnóstico por imagen , Adulto Joven
3.
Niger J Clin Pract ; 21(1): 114-116, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29411735

RESUMEN

Gardner syndrome (GS) is a rare genetic disorder. Dentists play an important role in diagnosis considering that craniomaxillofacial osteomas are a major criteria for GS. We report a 26-year-old male patient who referred to our department with toothache. On routine panoramic radiographic examination, multiple radiopaque masses were detected incidentally. In addition, on extraoral examination, a soft tissue tumor was detected on his shoulder. The patient was referred to the gastroenterology department and intestinal polyps were detected in the colon. Histopathology report revealed malignant changes in the intestinal polyps. Early colectomy, which is a life-saving operation, was possible because of our early diagnosis.


Asunto(s)
Síndrome de Gardner/diagnóstico , Neoplasias Mandibulares/diagnóstico por imagen , Neoplasias Maxilares/diagnóstico por imagen , Osteoma/diagnóstico por imagen , Radiografía Panorámica , Adulto , Diagnóstico Precoz , Humanos , Hallazgos Incidentales , Masculino , Odontalgia/etiología
4.
Niger J Clin Pract ; 18(4): 573-6, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25966736

RESUMEN

Acute myeloid leukemias (AMLs) are aggressive hematopoietic neoplasms that, if untreated, can lead to death within days. Owing to its high morbidity rate, early diagnosis and appropriate medical therapy is essential. Oral lesions may be the presenting feature of acute leukemias and are, therefore, important diagnostic indicators of the disease. Erythematous or cyanotic gingival hyperplasia with or without necrosis is reported to be the most consistent symptom leading to a diagnosis of acute leukemia that directs the patient to seek early dental consultation. This report refers to a patient with AML that was provisionally diagnosed in the dental hospital due to severe gingival enlargements.


Asunto(s)
Encía/patología , Hipertrofia Gingival/diagnóstico , Leucemia Mieloide Aguda/diagnóstico , Adulto , Diagnóstico Diferencial , Hipertrofia Gingival/etiología , Humanos , Leucemia Mieloide Aguda/complicaciones , Masculino
5.
Dentomaxillofac Radiol ; 42(8): 20130072, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23674614

RESUMEN

OBJECTIVES: To evaluate the effects of 3 T magnetic field on microleakage of amalgam restorations containing three different types of silver (Ag). METHODS: 60 extracted teeth were restored with three different types of amalgam filling materials. Restored teeth were sectioned mesiodistally and divided into experimental and control groups. Experimental groups were exposed to a magnetic field of 3 T for 20 min. All samples were plunged into 2% basic fuchsin solution and examined under a digital microscope by three different observers with regard to microleakage. RESULTS: Statistical analysis showed significant differences in microleakage between the groups exposed to MRI and controls, whereas differences in microleakage between amalgam types were insignificant. CONCLUSIONS: The primary risk of MRI systems arises from the effects of its strong magnetic field on objects containing ferromagnetic materials. An MRI of 1.5 T is known to be safe for amalgam restorations. However, our research indicates that MRI is not completely devoid of any effects on amalgam restorations.


Asunto(s)
Amalgama Dental/química , Filtración Dental/clasificación , Restauración Dental Permanente , Imagen por Resonancia Magnética/métodos , Colorantes , Amalgama Dental/efectos de la radiación , Preparación de la Cavidad Dental/clasificación , Esmalte Dental/ultraestructura , Restauración Dental Permanente/clasificación , Dentina/ultraestructura , Humanos , Campos Magnéticos , Colorantes de Rosanilina , Plata/química , Plata/efectos de la radiación , Factores de Tiempo
6.
J Int Med Res ; 40(2): 810-5, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22613447

RESUMEN

OBJECTIVES: A prospective study to determine how commonly chronic subacromial impingement is associated with subcoracoid impingement and to evaluate clinical outcome after arthroscopic subacromial decompression (ASD). METHODS: Subacromial and coracohumeral distances were evaluated in patients with chronic shoulder pain before and after ASD, using magnetic resonance imaging and the University of California at Los Angeles (UCLA) shoulder scale and Constant-Murley shoulder assessment. RESULTS: A total of 40 patients were included in the study; patients were followed up for a mean of 27.3 months. Before ASD, 14 (35%) patients with chronic subacromial impingement also had subcoracoid impingement. In these patients, the mean coracohumeral distance was 7.18 mm (range 5.00 - 11.00 mm). After ASD, no patient had subcoracoid impingement, and the mean coracohumeral distance was significantly longer than pre-ASD, 12.85 mm (range 11.00 - 15.00 mm). The Constant-Murley shoulder assessment and UCLA shoulder scale both showed improvement after ASD. CONCLUSIONS: Chronic subacromial impingement occurred together with subcoracoid impingement in 35% of patients presenting with chronic shoulder pain. Following ASD, the coracohumeral distance increased with remission from pain.


Asunto(s)
Síndrome de Abducción Dolorosa del Hombro/complicaciones , Dolor de Hombro/diagnóstico , Adulto , Anciano , Descompresión Quirúrgica , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Hombro/cirugía , Síndrome de Abducción Dolorosa del Hombro/cirugía , Dolor de Hombro/patología , Resultado del Tratamiento
7.
Proc Natl Acad Sci U S A ; 103(50): 18905-10, 2006 Dec 12.
Artículo en Inglés | MEDLINE | ID: mdl-17142320

RESUMEN

Global activation of the embryonic genome is the most critical event in early mammalian development. After fertilization, a rich supply of maternal proteins and RNAs support development whereas a number of zygotic and embryonic genes are expressed in a stage-specific manner leading to embryonic genome activation (EGA). However, the identities of embryonic genes expressed and the mechanism(s) of EGA are poorly defined in the bovine. Using the Affymetrix bovine-specific DNA microarray as the biggest available array at present, we analyzed gene expression at two key stages of bovine development, matured oocytes (MII) and 8-cell-stage embryos, constituting the ultimate reservoir for life and a stage during which EGA takes place, respectively. Key genes in regulation of transcription, chromatin-structure cell adhesion, and signal transduction were up-regulated at the 8-cell stage as compared with 8-cell embryos treated with alpha-amanitin and MII. Genes controlling DNA methylation and metabolism were up-regulated in MII. These changes in gene expression, related to transcriptional machinery, chromatin structure, and the other cellular functions occurring during several cleavage stages, are expected to result in a unique chromatin structure capable of maintaining totipotency during embryogenesis and leading to differentiation during postimplantation development. Dramatic reprogramming of gene expression at the onset of development also has implications for cell plasticity in somatic cell nuclear transfer, genomic imprinting, and cancer.


Asunto(s)
Blastocisto/metabolismo , Diferenciación Celular , Perfilación de la Expresión Génica , Análisis de Secuencia por Matrices de Oligonucleótidos , Oocitos/citología , Oocitos/metabolismo , Transcripción Genética/genética , Amanitinas/farmacología , Animales , Bovinos , Femenino , Transcripción Genética/efectos de los fármacos
8.
Transplant Proc ; 38(9): 2784-7, 2006 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-17112829

RESUMEN

We have recently shown that experimental traumatic brain injury (TBI) results in ultrastructural damage in heart tissue. The aim of this study was to determine the two antiapoptotic signals "survivin" and "aven" in rat heart tissue following TBI, and comparing the effects of erythropoietin (EPO) and methylprednisolone (MPS). Thirty-six Wistar-Albino female rats weighing 190 to 230 g were randomly allocated into six groups: group 1 underwent head trauma with no treatment; group 2 and group 3, head trauma and intraperitoneally delivered EPO (1000 IU/kg) and MPS (30 mg/kg), respectively; group 4 (vehicle), head trauma and intraperitoneal albumin (0.4 mL/rat); groups 5 and 6, control and sham-operated groups, respectively. Three-hundred g-cm impact trauma was produced by the method of weight-drop. Real-time quantitative polymerase chain reactions were used to estimate survivin and aven gene expression at the total RNA level. Both survivin and aven were higher among the treatment than the trauma group (P = .0006, .0001 and P = .0038, .0033, respectively). Comparing survivin and aven between EPO and MPS treatment groups showed no significance (P = .3027, .2171, respectively). Also, both survivin and aven were significantly higher among the treatment than the vehicle, the control, or the sham-operated groups. These findings suggested that both EPO and MPS may play important roles in the expression of antiapoptotic survivin and aven genes in heart tissue after TBI.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Proteínas Reguladoras de la Apoptosis/genética , Lesiones Encefálicas/fisiopatología , Regulación de la Expresión Génica , Corazón/fisiopatología , Proteínas Asociadas a Microtúbulos/genética , Animales , Lesiones Encefálicas/tratamiento farmacológico , Cartilla de ADN , ADN Complementario/genética , ADN Complementario/aislamiento & purificación , Eritropoyetina/uso terapéutico , Metilprednisolona/uso terapéutico , Células Musculares/efectos de los fármacos , Células Musculares/fisiología , Reacción en Cadena de la Polimerasa , ARN/genética , ARN/aislamiento & purificación , Ratas , Survivin
9.
J Int Med Res ; 33(6): 661-7, 2005.
Artículo en Inglés | MEDLINE | ID: mdl-16372584

RESUMEN

Local bone marrow (BM) renin-angiotensin system (RAS) affects physiological and pathological haematopoiesis, including erythropoiesis. In this study, quantitative expression of the messenger RNAs of the major RAS components--angiotensin-converting enzyme (CD143), renin and angiotensinogen--were measured in BM samples by quantitative real-time polymerase chain reaction, to evaluate the activity of local BM RAS in polycythemia rubra vera (PV) in comparison with normal erythropoiesis. The presence of CD143 was also investigated in the same BM samples by flow cytometry. Increased local synthesis of the major RAS components has been identified by demonstrating corresponding mRNAs in the BM of the patients with PV. Our findings indicate up-regulation of local BM RAS, together with down-regulation of the cell surface angiotensin-converting enzyme receptors, in the autonomous neoplastic clonal erythropoiesis of PV.


Asunto(s)
Células de la Médula Ósea/metabolismo , Policitemia Vera/metabolismo , Sistema Renina-Angiotensina/genética , Adulto , Anciano , Angiotensinógeno/genética , Angiotensinógeno/metabolismo , Células de la Médula Ósea/fisiología , Estudios de Casos y Controles , Femenino , Expresión Génica , Humanos , Masculino , Persona de Mediana Edad , Peptidil-Dipeptidasa A/genética , Peptidil-Dipeptidasa A/metabolismo , Policitemia Vera/genética , Renina/genética , Renina/metabolismo
10.
Mycoses ; 47(9-10): 393-6, 2004 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-15504122

RESUMEN

In this study, 600 stored Candida species, isolated from vaginal samples of immunocompetent women, and phenotypically identified as C. albicans on the basis of a positive germ tube test, were screened for the presence of C. dubliniensis by three phenotypical methods. Only one strain (0.17%) failed to grow at 45 degrees C, and produced abundant chlamydospores on both the cornmeal-Tween 80 agar and the Staib agar. This strain was identified as C. dubliniensis by using the ID-32C kit (bioMerieux Vitek) and confirmed by DNA sequencing of internal transcript spacer (ITS) region.


Asunto(s)
Candida/aislamiento & purificación , Candidiasis/microbiología , Vagina/microbiología , Candida/efectos de los fármacos , Candida/genética , Candida/crecimiento & desarrollo , Candidiasis/tratamiento farmacológico , Candidiasis/epidemiología , Medios de Cultivo/química , Femenino , Hospitales , Humanos , Turquía/epidemiología
11.
Transplant Proc ; 36(10): 2935-8, 2004 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-15686664

RESUMEN

The purpose of this study was to investigate whether erythropoietin (EPO) has an effect on the expression of bcl-2 in rat cardiac myocytes following experimental isolated traumatic brain injury (TBI). Forty-eight Wistar-Albino female rats were randomly allocated into eight groups. Groups AC and BC were controls; groups AS and BS were sham-operated animals. Groups A1 and B1 underwent head trauma without treatment. Groups A2 and B2, head traumas plus EPO intraperitoneally (1000 IU/kg); groups A3 and B3, the vehicle groups, head traumas and intraperitoneal albumin (0.4 ml/rat). The method of weight drop was used to produce impact trauma at 24 hours after injury. Samples obtained from the left ventricle were assayed for lipid peroxidation and bcl-2 gene expression using real-time quantitative polymerase chain reactions. Lipid peroxidation in the heart tissue was determined by the concentration of thiobarbituric acid reactive substances (TBARs). The results showed that administration of EPO significantly reduced the increase in lipid peroxidation by-products after moderate or severe trauma. The bcl-2 expression was significantly higher in EPO (A2 and B2) compared to trauma groups (A1 and B1) suggesting a protective effect. These findings suggest that EPO may play an important role in the expression of bcl-2 and decrease in TBARs-the end product of lipid peroxidation in myocytes-after moderate or severe TBI.


Asunto(s)
Lesiones Encefálicas/fisiopatología , Eritropoyetina/farmacología , Genes bcl-2/efectos de los fármacos , Corazón/fisiología , Células Musculares/fisiología , Proteínas Proto-Oncogénicas c-bcl-2/genética , Animales , Modelos Animales de Enfermedad , Femenino , Regulación de la Expresión Génica/efectos de los fármacos , Corazón/efectos de los fármacos , Peroxidación de Lípido/efectos de los fármacos , Células Musculares/efectos de los fármacos , Proteínas Proto-Oncogénicas c-bcl-2/efectos de los fármacos , Ratas , Ratas Wistar , Sustancias Reactivas al Ácido Tiobarbitúrico/metabolismo
12.
Clin Exp Rheumatol ; 19(5 Suppl 24): S63-7, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11760404

RESUMEN

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.


Asunto(s)
Amiloidosis/genética , Fiebre Mediterránea Familiar/genética , Enfermedades Renales/genética , Proteínas/análisis , Adolescente , Adulto , Edad de Inicio , Amiloidosis/etiología , Amiloidosis/fisiopatología , Niño , Proteínas del Citoesqueleto , Análisis Mutacional de ADN , Fiebre Mediterránea Familiar/complicaciones , Femenino , Humanos , Enfermedades Renales/etiología , Enfermedades Renales/fisiopatología , Masculino , Fenotipo , Proteinuria/etiología , Pirina , Turquía/epidemiología
13.
Clin Genet ; 57(6): 430-4, 2000 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-10905662

RESUMEN

Familial Mediterranean fever (FMF) is an autosomal recessive disease. It is characterized by recurrent febrile episodes in association with peritonitis, pleuritis, and arthritis. Progressive systemic amyloidosis is the most important complication of FMF that inevitably leads to chronic renal failure. Recently, the gene for FMF, MEFV, has been cloned and four missense mutations have been described: M694V, M680I, V726A, and M694I. Initial studies have suggested that the presence of the M694V mutation carries a significant risk for the development of amyloidosis. In this study, we present seven families, in which at least two individuals have been diagnosed with FMF and at least one with amyloidosis. Among 18 individuals, in whom molecular testing was performed for the four aforementioned mutations, ten had amyloidosis. None of these ten individuals was found to be homozygous for the M694V mutation. In three families, there were two sibs with amyloidosis. None of the sib-pairs with amyloidosis was found to have the same genotype. There were two or more sibs with the same genotype in four families. Only one sib from each family developed amyloidosis in these families. These results provide evidence that FMF patients without the M694V mutation are also at risk for the development of amyloidosis. Particular mutations themselves do not appear to be sufficient to explain the occurrence of amyloidosis in all cases with FMF.


Asunto(s)
Amiloidosis/genética , Fiebre Mediterránea Familiar/genética , Mutación , Proteínas/genética , Adolescente , Adulto , Niño , Preescolar , Colchicina/uso terapéutico , Proteínas del Citoesqueleto , Análisis Mutacional de ADN , Fiebre Mediterránea Familiar/tratamiento farmacológico , Fiebre Mediterránea Familiar/mortalidad , Salud de la Familia , Femenino , Genotipo , Humanos , Masculino , Mutación Missense , Pirina
14.
Acta Paediatr ; 89(2): 177-82, 2000 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-10709887

RESUMEN

Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by recurrent self-limited attacks of fever accompanied by peritonitis, pleuritis and arthritis. Approximately 5% of individuals with FMF have been reported to have Henoch-Schönlein purpura (HSP) and about 1% have polyarteritis nodosa (PAN). Protracted febrile myalgia is another vasculitis-associated clinical entity among patients with FMF. Recently, the gene responsible for FMF, MEFV, has been cloned and four missense mutations (M680I, M694V, V726A and M694I) have been described. In this report, we present clinical and laboratory findings and mutation results of 23 children with FMF-associated vasculitis. HSP, PAN and protracted febrile attacks have been diagnosed in 11, 2 and 10 children, respectively. Mutation analysis shows that 3 children are homozygotes for the M694V mutation and 11 are compound heterozygotes for 2 of the studied mutations. M694V/V726A mutations were identified in 8, M694V/M694I in 2 and M680I/M694V in 1 of these children. In six children only one mutation was found and in three none of the studied mutations were identified. This study confirms that most children with FMF-associated vasculitis have identifiable mutations in the MEFV gene. Environmental and/or other genetic factors are possibly involved in the pathogenesis of vasculitis in FMF; elucidation of these mechanisms will help to understand pathogenesis of childhood vasculitides.


Asunto(s)
Fiebre Mediterránea Familiar/complicaciones , Vasculitis/diagnóstico , Vasculitis/genética , Adolescente , Secuencia de Bases , Biopsia con Aguja , Niño , Preescolar , Fiebre Mediterránea Familiar/diagnóstico , Femenino , Humanos , Lactante , Masculino , Mutación , Reacción en Cadena de la Polimerasa , Pronóstico , Sensibilidad y Especificidad
15.
Rheumatology (Oxford) ; 39(1): 67-72, 2000 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-10662876

RESUMEN

OBJECTIVES: Differences in clinical manifestations of familial Mediterranean fever (FMF) between different ethnic groups have been documented. The FMF gene was recently cloned and four missense mutations (Met694Val, Met680Ile, Val726Ala, and Met694Ile) that account for a large percentage of the patients were identified. The results of initial mutation studies have led to the hypothesis that phenotypic variation of the disease may be attributable to the existence of some of these mutations. The purpose of this study was to evaluate whether this phenotypic variation is associated with the existence of particular mutations in Turkish FMF patients living in Turkey. METHODS: Four missense mutations and genotype-phenotype correlation were investigated in 167 Turkish FMF patients. The patients were grouped according to the presence of the Met694Val and the Met680Ile mutations, and 12 clinical parameters were compared between the groups. RESULTS: The presence of the Met694Val mutation was not found to be associated with a severe form of the disease or the development of amyloidosis. Arthritis frequency was found to be lower in the patients with homozygous Met680Ile mutation. CONCLUSIONS: None of the four missense mutations is associated with a severe disease or the development of amyloidosis in Turkish FMF patients living in Turkey. The influence of unknown environmental factors and/or the presence of other genetic changes are necessary to explain the phenotypic variation of the disease and the development of amyloidosis.


Asunto(s)
Amiloidosis/etiología , Fiebre Mediterránea Familiar/complicaciones , Fiebre Mediterránea Familiar/genética , Mutación Missense/fisiología , Adolescente , Adulto , Secuencia de Aminoácidos/genética , Artritis/epidemiología , Artritis/etiología , Niño , Preescolar , Fiebre Mediterránea Familiar/fisiopatología , Femenino , Genotipo , Humanos , Incidencia , Masculino , Fenotipo , Índice de Severidad de la Enfermedad , Turquía
16.
Thromb Res ; 92(2): 79-82, 1998 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-9792115

RESUMEN

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.


Asunto(s)
Predisposición Genética a la Enfermedad , Mutación , Trombosis/genética , Estudios de Casos y Controles , Homocisteína/genética , Homocisteína/metabolismo , Humanos , Trombosis/epidemiología , Trombosis/metabolismo , Turquía/epidemiología
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