RESUMEN
AIM: The research to be conducted on human leukocyte antigen (HLA)-B27 in patients diagnosed with ankylosing spondylitis (AS) in Diyarbakir between 2019-2021 is to contribute to the understanding of the prevalence and effect of this genetic marker in the local population. As a researcher working on HLA-B27 and AS, our focus is to research the following. HLA-B27 Prevalence: To determine the prevalence of HLA-B27 in patients diagnosed with AS during the specified period in Diyarbakir. This information can provide insight into the genetic factors associated with the disease in the local population. Disease Severity: Investigate the relationship between HLA-B27 positivity and severity of AS symptoms. To examine factors such as disease progression, pain levels, functional impairment, and quality of life in HLA-B27 positive patients compared to HLA-B27 negative patients. By Genetic Associations: To enable the discovery of potential genetic relationships between HLA-B27 and other genetic markers known to be associated with AS. To investigate whether there are any specific genetic variants associated with HLA-B27 that contribute to disease susceptibility or severity. Researchers: We recommend considering the following approaches to generate knowledge on this topic globally: Literature Review: Conducting a comprehensive review of the available scientific literature on HLA-B27 and AS. It is to describe relevant studies conducted globally and summarize their findings to provide a broader understanding of the subject. Collaboration and Data Sharing: To encourage cooperation with researchers from other regions or countries doing similar studies on HLA-B27 and ASs. By sharing our data and collaborating on analysis, we can improve the global perspective and generalizability of your findings. International Conferences and Journals: Presenting our research findings at international conferences focusing on rheumatology, genetics or related fields. To disseminate our findings globally is to submit your research articles to reputable journals specializing in AS or genetic studies. Online Platforms: Using online platforms such as Researchgate.net, academia.edu or social media networks to share our research findings, connect with other researchers in the field and participate in discussions on a global scale. By using these fields, it is possible to contribute to the global knowledge and understanding of the relationship between HLA-B27 and AS. It is also to obtain insights from studies carried out in other regions. MATERIALS AND METHODS: 198 (104 male and 94 female) patients who applied to Dicle University Faculty of Medicine Physical Therapy and Rehabilitation Clinic with AS symptoms between 2019-2021 and were referred to Dicle University Medical Biology and Genetics Department for evaluation. HLA-B27 positivity was included in our study as a case group. As the control group, 50 people (25 males, 25 females) were selected among the unrelated people who applied to our laboratory to be a bone marrow donor. In both groups, DNA isolation was performed from peripheral blood using the salt precipitation method. Rotar Gene Q device was used for real-time PCR analysis. As a statistical method in analysis; The prevalences of the variables of interest were calculated. The lower and upper limits of 95% were determined as the confidence interval. According to the presence of HLA 27 positivity, the mean of ESR, CRP, and age variables were compared. Mann-Whitney U test was used due to the small number of subjects. Also, correlations between ESR and CRP were calculated. Spearman rho correlation statistics were used as a statistical method. Analyzed. RESULT: Radiological examinations and laboratory tests were performed on 198 patients with suspicion AS and 50 healthy control group of 248 subjects. The prevalence of those with a definite diagnosis of AS was calculated as statistical analysis recalculated 20.16 (95% CI: 0.76-0.9552). The prevalence of HLA-B27 in 50 patients diagnosed with AS as a result of radiological examinations and laboratory tests was calculated as 92%. CONCLUSION: Our study is the first study covering the province of Diyarbakir in the Southeastern Anatolia Region, which we think will contribute to the literature in the evaluation of HLA-B27 positivity in AS patients. The prevalence of HLA-B27 in our region is higher than the prevalence in Turkey.
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Espondilitis Anquilosante , Humanos , Masculino , Femenino , Espondilitis Anquilosante/epidemiología , Espondilitis Anquilosante/genética , Espondilitis Anquilosante/diagnóstico , Antígeno HLA-B27/genética , Prevalencia , Turquía/epidemiología , Calidad de Vida , Predisposición Genética a la Enfermedad , Marcadores GenéticosRESUMEN
Down syndrome is primarily caused by trisomy of chromosome 21. We reviewed cytogenetic studies performed on 1048 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbakir, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8 percent). For histologic examination to persons with Down syndrome and normal, buccal mucosa smear was prepared by rubbing. Down syndrome are disabled and control groups were compared statistically buccal epithelial cells and nuclei (p<0.05). Periphery of the nucleus in some patients with Down's syndrome, while the bud structures in the form of micronuclei was observed in the karyolytic cells.
El síndrome de Down es causado principalmente por la trisomía del cromosoma 21. Se revisaron los estudios citogenéticos realizados en 1.048 pacientes que fueron remitidos a la Unidad de Citogenética del Dicle University Hospital, Diyarbakir, sudeste de Turquía, entre los años 2000 y 2009. Los casos se agruparon de acuerdo a la razón de referencia para el análisis citogenético. Las frecuencias más altas de cariotipos anormales se encontraron ent los casos que fueron remitidos por sospecha de síndrome de Down (84,8 por ciento). Para el estudio histológico de las personas con y sin síndrome de Down, se realizó el frotis de mucosa oral por hisopado. Los grupos con síndrome de Down y de control (sin síndrome) se compararon estadísticamente en relación a las células epiteliales orales y los núcleos (p <0,05). Se observaron núcleos periféricos en algunos pacientes con síndrome de Down, mientras que estructuras de tipo brotes en la forma de micronúcleos se observaron en las células cariolíticas.
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Humanos , Mucosa Bucal/citología , Síndrome de Down/genética , Síndrome de Down/patología , Aberraciones Cromosómicas , Análisis Citogenético , Células Epiteliales , Asesoramiento Genético , Síndrome de Down/epidemiología , TurquíaRESUMEN
An insertion/deletion (I/D) polymorphism was identified in intron 16 of the gene encoding the human angiotensin I-converting enzyme (ACE), a candidate gene for chronic obstructive pulmonary disease (COPD). We investigated the relationship between this polymorphism in the ACE gene and the risk of developing COPD. Sixty-six COPD in-patients and 40 non-smoking control individuals were recruited for this study. The distribution of ACE genotypes in these individuals was studied. The frequencies of ACE genotypes were found to be 47.0% for DD, 30.3% for ID, and 22.7% for II in the COPD group and 32.5% for DD, 47.5% for ID, and 20.0% for II in the control group. The allele frequencies were found to be 0.62% for the D allele and 0.38% for the I allele in the COPD group and 0.56% for the D allele and 0.44% for the I allele in the control group. A significant difference was found between I and D allele frequencies (P < 0.05) of the study and control groups. Our results suggest that this ACE polymorphism may be associated with the development of COPD.
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Mutagénesis Insercional , Peptidil-Dipeptidasa A/genética , Polimorfismo Genético , Enfermedad Pulmonar Obstructiva Crónica/genética , Eliminación de Secuencia , Anciano , Alelos , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , FumarRESUMEN
Chromosomal heteromorphism is considered a variant of a normal karyotype, but it is more frequent in couples with repeated miscarriages. We investigated chromosomal heteromorphism in couples with repeated miscarriages in comparison with a control group. A total of 455 couples who applied to our genetic diagnosis laboratory in Diyarbakir, Turkey, were evaluated for chromosome heteromorphisms; 221 of these couples (the study group) had recurrent abortions and 234 of them (the control group) had no history of abortions and had at least one living child. The patient group of couples with recurrent abortions were found to have a significantly higher rate of chromosome heteromorphism (8.4%) in comparison with the control group (4.9%). When the patients were evaluated according to gender, males had a significantly higher rate of chromosome heteromorphism (11.3%) than females (5.4%). We conclude that since couples with recurrent abortion and males have higher rate of chromosome heteromorphism, cases of heteromorphism should not be disregarded in the etiological investigation of recurrent abortions. Further research should be done to investigate the phenotypic effects of chromosome heteromorphism.
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Aborto Habitual/genética , Aberraciones Cromosómicas , Composición Familiar , Femenino , Humanos , Cariotipificación , Masculino , TurquíaRESUMEN
We reviewed cytogenetic studies performed on 4216 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbair, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the relative frequency of cases with abnormal karyotypes was calculated in each group. The most common reason for requesting cytogenetic testing was referral for Down syndrome and for repeated abortions. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). Among the chromosomal abnormalities, sexual chromosomal abnormalities were found in 239 cases (17.6%), and Klinefelter syndrome was the most frequent sex chromosomal abnormality. Autosomal abnormalities were found in 1119 cases (82.4%), and Down syndrome was the most frequent autosomal chromosomal abnormality. In conclusion, the high rate of chromosomal abnormalities (32.2%) found in this population demonstrates the importance of cytogenetic evaluation in patients who show clinical abnormalities. This is the first report on cytogenetic testing in the southeast region of Turkey. This type of study provides a basis for determining the risks of recurrence and for deciding on clinical treatment and genetic counseling.
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Aberraciones Cromosómicas , Análisis Citogenético/métodos , Adolescente , Adulto , Niño , Preescolar , Citogenética , Síndrome de Down/genética , Femenino , Humanos , Lactante , Recién Nacido , Cariotipificación , Síndrome de Klinefelter/genética , Masculino , Persona de Mediana Edad , TurquíaRESUMEN
AIMS: To analyse the autofluoresence (AF) properties of pingueculae and compare the size of AF with the extent of the visible lesion. METHODS: Forty eyes of 23 patients with pingueculae were included in the study. AF images were obtained using an HRA2 confocal scanning laser ophthalmoscope; anterior segment photographies were obtained using TRC-50IX, IMAGEnet 2000 Digital Imaging System. The AF characteristics of pingueculae were analysed. The extent of visible lesion in anterior segment photography and AF image was compared. RESULTS: AF images revealed well-defined hyper-autofluorescence in the area of pinguecula, which was greater than the extent of visible pinguecula in the slit-lamp examination, in 40 of 56 lesions (71.4%). In none of the eyes was the hyperautofluorescent area smaller than the extent of visible lesion. CONCLUSION: Pingueculae display hyperautofluorescence in AF imaging. The real size of pingueculae may be estimated by its AF characteristics, which is mostly larger than the visible lesion.
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Enfermedades de la Conjuntiva/patología , Epitelio Pigmentado Ocular/patología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Fluorescencia , Fondo de Ojo , Humanos , Lipofuscina/fisiología , Masculino , Microscopía Confocal , Persona de Mediana Edad , Oftalmoscopía , FotograbarRESUMEN
AIM: To evaluate the clinical impact, aqueous tear parameters, and meibomian gland morphology in patients with primary meibomianitis before, during, and 3 months after a course of oral minocycline. METHODS: 16 patients were prospectively enrolled, 11 male and five female (mean age 69 years old). Each patient received routine clinical evaluations before, after 3 months therapy, and at 6 month study follow up visit. The clinical appearance, tear volume, flow and turnover, evaporation, Schirmer I test, meibomian gland dropout, lissamine green staining, and bacteriology wer evaluated. RESULTS: Improvement was observed in clinical signs of meibomianitis at the second and third visits. Microbial culture findings improved. Decreased aqueous tear volume and flow, and increased evaporation rate range at 35-45% relative humidity (RH) (p < 0.05) were also detected. Other related tear parameters did not change. Meibomian gland dropout showed no improvement. CONCLUSIONS: 3 months of oral minocycline resulted in clinical improvements in all meibomianitis signs that persisted for at least 3 months after discontinuation despite decreased aqueous tear volume and flow with increased evaporation (35-45% RH). However, there was improvement in the turbidity of secretions. Short term minocycline therapy probably has efficacy in the management of meibomianitis that extends beyond eradication of bacteria.
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Antibacterianos/administración & dosificación , Enfermedades de los Párpados/microbiología , Glándulas Tarsales/microbiología , Minociclina/administración & dosificación , Infecciones Estafilocócicas/tratamiento farmacológico , Administración Oral , Anciano , Anciano de 80 o más Años , Antibacterianos/uso terapéutico , Bacterias Anaerobias , Conjuntiva/microbiología , Síndromes de Ojo Seco/tratamiento farmacológico , Síndromes de Ojo Seco/microbiología , Síndromes de Ojo Seco/patología , Enfermedades de los Párpados/tratamiento farmacológico , Enfermedades de los Párpados/patología , Femenino , Humanos , Masculino , Glándulas Tarsales/patología , Persona de Mediana Edad , Minociclina/uso terapéutico , Estudios Prospectivos , Staphylococcus aureus , Staphylococcus epidermidis , Lágrimas/fisiologíaRESUMEN
As a growing variety of coronary stents become available on the market and the results of randomised trials may be difficult to apply to less selected patients, detailed information about the immediate and long term results achieved with one device can be helpful for the interventional cardiologist. The purpose of the present study was to test the applicability, angiographic and clinical results of the ACS Multilink Duet coronary stent in a relatively unselected group of patients undergoing coronary angioplasty immediately and in the long term. From November 1998 to May 2000, 337 ACS Multilink Duet coronary stents were implanted in 285 patients in our clinic. Data were collected retrospectively from the catheterization laboratory records and patient charts. Restenotic lesions and chronic total occlusion stenting were excluded from analysis (45 patients and 60 stents were excluded leaving 240 patients, 262 lesions and 277 stents for analysis). In 3 cases (1%) the ACS Multilink Duet stent did not cross the lesion and another device was used. One patient (0.4%) died due to acute occlusion of the proximal left anterior descending artery and cardiogenic shock within 4 hours after the procedure. Three patients (1.25%) had subacute thrombosis and q wave myocardial infarction during the hospital course, while four additional patients, out of 197, in whom one month clinical data were available had myocardial infarction (2 q waves and 2 non-q waves) after hospital discharge in the first month (2.03%). After 6 months from the procedure angiographic follow-up data were available for 108 patients (45%), 111 lesions (42.4%) and 117 stents (40.4%). They had complex lesions, B2-C type accounting for 42.3% of the cohort, and lesions requiring 2.5 mm diameter stents were also included and constituted 11.1% of the study cohort. Restenosis occurred in 24 patients (21.4%) and in 25 stents (22.2%). Comparing the patients with and without restenosis, diabetes mellitus and complex lesion morphology (B2-C) were found to be more frequent in the restenosis group (p<0.01, p<0.01). Lesions suitable to stent with a stent diameter of 3.5 mm or more had less restenosis with respect to smaller diameters (p=0.022). For a single stent diameter restenosis rates, regarding the stent length were 14.2% for 8 mm and 13 mm, 18.6% for 18 mm, and 37.5% for 23 mm and 28 mm (p=not significant). The Multilink Duet stent, in a cohort of relatively unselected patients, has a high rate of applicability, an acceptable rate of subacute occlusion, and a low rate of restenosis.
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Angiografía Coronaria , Enfermedad Coronaria/terapia , Vasos Coronarios , Stents , Anciano , Enfermedad Coronaria/diagnóstico por imagen , Reestenosis Coronaria/diagnóstico por imagen , Reestenosis Coronaria/etiología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
BACKGROUND: Tumor necrosis factor alpha (TNFalpha) plays an important role in the pathophysiology of heart failure. Recent studies have shown a beneficial effect of losartan in these patients. However, the effect of losartan on TNFalpha levels in heart failure has not yet been studied. We evaluated the effect of losartan on circulating TNFalpha levels and ejection fraction (EF) in patients with congestive heart failure. METHODS: Forty patients with heart failure and EF < or = 40% were enrolled into the study. All of the patients have been given diuretic and digitalis therapy. Twenty patients were given losartan (50 mg/d) (Group I, 10 women, 10 men, 12 dilated cardiomyopathy, 8 ischemic heart disease, mean age 64.9 + 8.9), and another 20 patients were not given losartan because of hypotension or renal dysfunction (Group II, 13 men, 7 women, 10 dilated cardiomyopathy, 10 ischemic heart disease, mean age 61.2 +/- 10.5). EF was measured at the initial evaluation and on the fifteenth day of the therapy by echocardiographic examination using an acoustic quantification method. Circulating TNFalpha levels were also measured at the initial evaluation and on the fifteenth day of therapy by the ELISA method. RESULTS: Losartan significantly increased EF and decreased TNFalpha (EF increased from 29.4 +/- 7.3% to 36.0 +/- 8.5%, P < 0.001, and TNFalpha decreased from 39.2 +/- 37.4 pg/ml to 27.0 +/- 30.0 pg/ml, P < 0.05). Changes in TNFalpha levels and EF were not found to be correlated (r=-0.28, P=0.24). However, in the control group, EF and TNFalpha levels were similar at baseline and at the fifteenth day (EF 31.4 + 8.1% vs 31.7 +/- 7.8%, P=0.1, and TNFalpha 91.5 + 86.0 pg/ml vs 110.0 +/- 80.7 pg/ml, P=0.1, respectively). CONCLUSIONS: Losartan improves left ventricular systolic function and decreases TNFalpha level. The decreased TNFalpha level seems to be independent of EF.
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Antihipertensivos/uso terapéutico , Insuficiencia Cardíaca/tratamiento farmacológico , Losartán/uso terapéutico , Sístole/efectos de los fármacos , Factor de Necrosis Tumoral alfa/efectos de los fármacos , Función Ventricular Izquierda/efectos de los fármacos , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Volumen Sistólico/efectos de los fármacos , Factores de TiempoRESUMEN
BACKGROUND: Bcl-2 proto-oncogene, an inhibitor of apoptosis and Bax proto-oncogene, an inducer of apoptosis play critical roles in the molecular circuit controlling apoptosis in cardiac muscle. The ratio of Bax to Bcl-2 proto-oncogene determines survival or death after an apoptotic stimulus. We speculated that susceptibility of myocytes to apoptosis determined as the Bax/Bcl-2 ratio might vary with the severity of heart failure. METHODS AND RESULTS: We studied immunohistochemically 108 endomyocardial biopsy specimens from 30 patients with idiopathic dilated cardiomyopathy (mild heart failure, n=14; moderate or severe heart failure, n=16) with the use of Bcl-2 and Bax monoclonal antibodies. The expression of each protein was determined semiquantitatively as the fraction of myocytes labeled with specific monoclonal antibodies using a digital morphometric analysis system. Patients with mild heart failure showed significantly increased Bax/Bcl-2 ratio than the patients with advanced heart failure (1.59+/-1.26 vs. 0.34+/-0.43, P=0.002). The expression of Bcl-2 was found to be independent of the severity of heart failure whereas the expression of Bax was significantly higher in patients with mild heart failure compared to the patients with moderate or severe heart failure (52.1+/-29.3 vs. 21.6+/-22.4%, P=0.005). Additionally, Bax/Bac-2 ratio was inversely correlated with the mitral E-interventricular septum distance, left ventricular end-systolic and end-diastolic diameter. CONCLUSION: The susceptibility of myocytes to apoptosis is significantly increased in the early phase of heart failure but it decreases with worsening of the disease due to depressed expression of Bax onco-protein. Increased myocyte susceptibility to apoptosis may have a role in the transition from mild heart failure to severe in patients with idiopathic dilated cardiomyopathy.
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Apoptosis , Cardiomiopatía Dilatada/patología , Proteínas Proto-Oncogénicas c-bcl-2/metabolismo , Proteínas Proto-Oncogénicas/metabolismo , Adulto , Cardiomiopatía Dilatada/metabolismo , Progresión de la Enfermedad , Femenino , Hemodinámica , Humanos , Modelos Lineales , Masculino , Proto-Oncogenes Mas , Índice de Severidad de la Enfermedad , Proteína X Asociada a bcl-2RESUMEN
Mitral annulus calcification (MAC) is an independent predictor of coronary artery disease (CAD). The present study was designed to determine whether an association exists between MAC and CAD in patients with dilated cardiomyopathy. Among the 286 patients with MAC on echocardiographic examination who underwent coronary angiography, 55 patients with echocardiographic findings of dilated cardiomyopathy (group I) were compared to 60 age-matched controls without MAC and an echocardiographic diagnosis of dilated cardiomyopathy (group II) who underwent coronary angiography during the same time. There were no differences in echocardiographic findings between two groups. The prevalence of CAD was higher in group I when compared to group II (74% vs 28%, p<0.001). With regard to severity of CAD, two-vessel, three-vessel, and left main coronary artery disease were found to be significantly frequent in group I (p<0.001). Multivariate analysis revealed that MAC (p=0.001), diabetes mellitus (p=0.048), and history of anginal chest pain (p=0.009) are the independent predictors for the presence of CAD in patients with dilated cardiomyopathy. In conclusion, MAC may be a marker for the presence of coronary artery disease in patients with dilated cardiomyopathy.
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Calcinosis , Cardiomiopatía Dilatada/diagnóstico , Cardiomiopatía Dilatada/epidemiología , Enfermedad Coronaria/diagnóstico , Enfermedad Coronaria/epidemiología , Estenosis de la Válvula Mitral/diagnóstico , Estenosis de la Válvula Mitral/epidemiología , Anciano , Estudios de Casos y Controles , Comorbilidad , Angiografía Coronaria/métodos , Ecocardiografía/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Valor Predictivo de las Pruebas , Probabilidad , Pronóstico , Valores de Referencia , Factores de Riesgo , Sensibilidad y EspecificidadRESUMEN
BACKGROUND: Electrical cardioversion of atrial fibrillation (AF) to sinus rhythm is associated with transient left atrial dysfunction and this phenomenon may lead to thrombus formation and embolic stroke. Delay of atrial mechanical function recovery may be related to ventricular diastolic function. OBJECTIVE: This study examined the effects of left ventricular diastolic function as well as the multiple clinical factors on the recovery of atrial systolic function after cardioversion for atrial fibrillation. METHODS: A total of 44 patients (28 male, 16 female, 61+/-18 years) with chronic AF (> or =1 month) underwent electrical cardioversion. Deceleration time of early filling wave (pre-CV EDT) on transmitral inflow obtained by using Doppler echocardiography before cardioversion and serial transmitral inflow Doppler variables were recorded through a 1 week study period in all patients. Various clinical (age, gender, the duration of AF) and echocardiographic variables (pre-CV EDT, left atrial dimension, left ventricular ejection fraction) were tested for an association with peak atrial filling wave velocity (VA) on day 1, 3 and 7 after cardioversion. RESULTS: EDT measured before cardioversion had a strong linear correlation with peak VA on every echocardiographic evaluation after cardioversion (Regression coefficient (R)=0.69, P<0.001; R=0.78, P<0.001 and R=0.83, P<0.001, on day 1, day 3 and day 7, respectively). The effect of left ventricular ejection fraction on peak VA was weaker than those of EDT. The duration of AF showed an inverse association with the recovery of atrial function, but this lost on multivariate analysis. None of the other parameters significantly correlated with peak VA after cardioversion. CONCLUSION: The recovery of atrial mechanical function after cardioversion, as assessed by peak VA on transthoracic Doppler echocardiography is mainly associated with the left ventricular diastolic function as measured by EDT, whereas the left ventricular systolic function relatively a small effect on this outcome. The duration of AF does not have any association with peak VA, possibly if it is chronic.
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Fibrilación Atrial/terapia , Función del Atrio Izquierdo , Cardioversión Eléctrica , Recuperación de la Función , Análisis de Varianza , Fibrilación Atrial/diagnóstico por imagen , Enfermedad Crónica , Ecocardiografía Doppler de Pulso , Femenino , Hemodinámica , Humanos , Modelos Lineales , Masculino , Persona de Mediana Edad , Volumen SistólicoRESUMEN
PURPOSE: To assess the reliability of visual screening with fix- follow-maintain (FFM) method in early detection of amblyopia in children who are not able to cooperate in testing with Allen Figures or Snellen E-chart. METHODS: Followup records of 89 patients that were examined in our pediatric ophthalmology department between May 1996 and May 1999 were evaluated retrospectively. The visual acuities that were measured with FFM method at the first visit were compared with the visual acuity levels that were measured with the Snellen E-chart at later followup visits. Functional amblyopia was defined as a difference of 2 or more Snellen lines between the two eyes. RESULTS: Amblyopia was later definitively diagnosed on the E-chart in only 17 (32.6%) of the 52 eyes that were estimated to have a significantly lower visual acuity than the fellow eye with the FFM method. Sensitivity of the FFM method in diagnosing amblyopia was found to be 53.1% and the specificity was 38.5%. CONCLUSIONS: The use of the FFM monocular/binocular fixation pattern to determine visual acuity and the possible presence of amblyopia is so insensitive, and so unspecific, that its reliability is very low and the results of such testing are therefore virtually useless, if not medically hazardous. There is, therefore, a need to make more universally available more sophisticated tests of vision (preferential looking, VEP); where they are not available, further emphasis should be placed on Snellen equivalent vision testing as with Allen Cards, Tumbling E, HOTV Test, Lea Figures etc. so as to obtain an accurate direct visual acuity at as young an age as possible. Amblyopia treatment should not be initiated solely on the basis of FFM testing.
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Ambliopía/diagnóstico , Fijación Ocular , Selección Visual/métodos , Visión Binocular , Visión Monocular , Agudeza Visual , Ambliopía/fisiopatología , Preescolar , Femenino , Humanos , Lactante , Masculino , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y Especificidad , Agudeza Visual/fisiologíaRESUMEN
BACKGROUND: Aetiology, clinical significance and treatment options for coronary artery ectasia/aneurysm is not clear. OBJECTIVE: We sought to determine whether exercise can induce coronary ischemia in patients with coronary artery ectasia/aneurysm without significant coronary stenosis. METHODS: Coronary artery ectasia was defined as 1.5-2-fold, aneurysm as >2-fold luminal dilatation of the adjacent normal segment. The study patients could have irregularities with ectatic coronaries but they did not have stenotic lesions >50% with visual assessment of two blinded observers. Patients having coronary artery ectasia or aneurysm with prior myocardial infarction, dilated cardiomyopathy, valvular heart disease, bundle branch block, significant ST-T changes were excluded. The control group was formed from a well matched population of 32 patients with normal coronary arteries who have not performed a treadmill test before coronary angiography. The study group underwent a symptom limited treadmill test if they did not have one before coronary angiogram, all control patients underwent treadmill test. RESULTS: Thirty-three patients with coronary artery ectasia/aneurysm (ranging from one to three vessels) but without significant stenosis were derived from 4470 cardiac catheterization procedures between January 1998 and July 2000. In the study group, 17 of the patients had positive treadmill tests with respect to five patients in the control group (P = 0.004). In subgroup analysis, diffuse ectasia/aneurysm (involving 2-3 vessels) was found to be strongly related with ischemia (P = 0.005) with respect to local disease. CONCLUSION: Coronary artery ectasia/aneurysm may lead to exercise induced ischemia, especially in the diffuse form.
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Aneurisma Coronario/complicaciones , Anomalías de los Vasos Coronarios/complicaciones , Ejercicio Físico , Isquemia Miocárdica/etiología , Estudios de Casos y Controles , Aneurisma Coronario/patología , Angiografía Coronaria , Anomalías de los Vasos Coronarios/patología , Dilatación Patológica , Prueba de Esfuerzo , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: Elevated plasma homocysteine level is an independent risk factor for cardiovascular disease. A common mutation (nucleotid 677C-T) in the gene coding for methylenetetrahydrofolate reductase (MTHFR) has been reported to reduce the enzymatic activity of MTHFR and is associated with elevated plasma levels of homocysteine, especially in subjects with low folate intake. HYPOTHESIS: Methylenetetrahydrofolate reductase T/T genotype may be a risk factor for premature MI in Turkish population who are known to have low folate levels. METHODS: The study group was comprised of 96 men (aged <45 years) with premature myocardial infarction (MI) and 100 age- and gender-matched controls who had no history or clinical evidence of coronary artery disease (CAD) and/or MI. DNA was extracted from peripheral blood and genotypes were determined by polymerase chain reaction, restriction mapping with HinfI, and gel electrophoresis. Conventional risk factors for CAD were prospectively documented. RESULTS: Allele and genotype frequencies among cases and control subjects were compatible with Hardy-Weinberg equilibrium. The frequencies of T/T, C/T, and C/C genotypes among patients with MI and control subjects were 15.6, 40.6, and 43.8%, and 5, 35, and 60%, respectively. Multivariate analyses identified smoking, MTHFR C/T polymorphism, diabetes mellitus, family history of CAD, and hypertension as the independent predictors of premature MI. Defining patients with non-T/T genotype (C/C and C/T combined) as reference, the relative risk of MI for subjects with T/T genotype was 5.94 (95% confidence interval: 1.96-18.02, p = 0.0016). CONCLUSIONS: Our findings suggest that C677T transition in the MTHFR gene may be a risk factor for premature MI in Turkish men.
Asunto(s)
Metilenotetrahidrofolato Deshidrogenasa (NADP)/genética , Infarto del Miocardio/etiología , Polimorfismo Genético/genética , Adulto , Ácido Fólico/sangre , Homocisteína/sangre , Humanos , Masculino , Metilenotetrahidrofolato Deshidrogenasa (NADP)/sangre , Infarto del Miocardio/sangre , Factores de Riesgo , Turquía/epidemiologíaRESUMEN
AIMS: We hypothesized that If there is a chronobiologic variation in the development of acute ischaemic events which is mainly attributed to the tendency for thrombus formation in the morning hours, same time dependent variations must also be seen in the development of ischaemic events after percutaneous transluminal coronary angioplasty (PTCA) and PTCA with stent implantation. METHODS: Enrolled in this study were 349 consecutive patients with single vessel disease and undergoing elective single vessel angioplasty. Patients had been observed for the development of immediate postprocedural ischaemic events. Working hours of our laboratory were divided into 2-hourly intervals in order to define the ending time of procedure. Analysis of acute complications was carried out according to the ending time of procedure. RESULTS: There was no difference with regard to clinical presentation, but patients who had complications had higher blood cholesterol level (P < 0.05). Patients with stent implantation had more adverse events than the PTCA group, but this difference did not reach the statistical significance (P = 0.07). The time interval between 10:30 a.m.-12:30 p.m. was found to be an independent risk factor for the negative outcomes (P = 0.043, Relative Risk 4838). CONCLUSION: The results of our study have demonstrated that postprocedural complications after angioplasty is related to the procedure time These patients may be observed more closely for the development of immediate postprocedural ischaemic events.
Asunto(s)
Angioplastia Coronaria con Balón , Ritmo Circadiano , Isquemia Miocárdica/epidemiología , Complicaciones Posoperatorias/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Análisis Multivariante , Isquemia Miocárdica/fisiopatología , Complicaciones Posoperatorias/fisiopatología , Riesgo , StentsRESUMEN
OBJECTIVE: This study was undertaken to assess the effect of plasma homocysteine level on angiographic restenosis 6 months after coronary angioplasty. METHODS: The plasma homocysteine level was measured in 100 consecutive patients at the time of coronary angioplasty, 56 patients who attended a 6-month follow-up angiogram being enrolled to the study; the 44 patients without a control coronary angiogram were not enrolled. Patients with and without angiographic restenosis were designated as groups A (n = 34) and B (n = 22) respectively. RESULTS: The baseline demographic (groups A and B), angiographic (groups A and B) and procedural characteristics were similar in both groups. The mean plasma homocysteine level (SD) was 15.2 (7.7) and 11.1 (2.5) mumol/l in groups A and B respectively (P = 0.007; 95% CI -6.9 to -1.1). With respect to the plasma homocysteine level, the upper and the lower thirds were compared by binary logistic regression (the lower third homocysteine level being < 10.6 mumol/l and the upper third homocysteine level > 14.1 mumol/l). The angiographic restenosis rate for the lower and upper tertiles was 47.4% and 89.5% respectively (P = 0.01; OR = 9.4; 95% CI 1.6-52.7). After adjustment for age and sex, the statistical significance did not change (P = 0.013; OR = 9.43; 95% CI 1.6-54.9). Even after adjustment for age, sex, smoking, hypertension, hypercholesterolemia, and diabetes mellitus, there was a statistically significant difference between the upper and lower tertiles (P = 0.008; OR = 41.3; 95% CI 2.6-635). CONCLUSION: Increased plasma homocysteine level and diabetes mellitus were independent risk factors for angiographic restenosis after percutaneous transluminal coronary angioplasty and coronary stenting.
Asunto(s)
Angioplastia Coronaria con Balón , Enfermedad Coronaria/sangre , Hiperhomocisteinemia/epidemiología , Stents , Enfermedad Coronaria/epidemiología , Enfermedad Coronaria/terapia , Femenino , Homocisteína/sangre , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Recurrencia , Factores de RiesgoRESUMEN
We report the case of a patient who was admitted to the immunology unit of our medical facility. The patient had a history of recurrent oral ulcers, low-grade fever, weight loss, and fatigue. Echocardiographic examination revealed a right ventricular mass that was initially thought to be a myxoma in an unusual location, and the patient was sent to surgery. Surgery revealed the mass to be a thrombus. After 5 months of anticoagulation therapy, the patient was readmitted to our institution with the same complaints, and a right atrial thrombus was found on echocardiographic examination. After a careful reevaluation of the patient's history and episodes of recurrent oral and genital ulcers, as well as the papulopustular lesions found on his first admission to hospital, Behçet's disease was diagnosed. The patient received thrombolytic therapy with a regression of thrombus, and continued with immunosuppressive and anticoagulation therapy. Five months later, echocardiographic examination showed complete disappearance of thrombus.