Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male.

21-hydroxylase deficiency stands as the most prevalent form of congenital adrenal hyperplasia, primarily resulting from mutations in the CYP21A2 gene. On the other hand, mutations within the CYP17A1 gene lead to 17α-hydroxylase/17,20-lyase enzyme deficiencies. The scarcity of 17-OH deficiency is noteworthy, accounting for less than 1% of all congenital adrenal hyperplasia cases. The male patient, born from a first-degree cousin marriage, exhibited several symptoms, including left undescended testis, micropenis, penile chord, left sensorineural hearing loss, and gynecomastia. He reported micropenis as a concern at the age of 13.5 years. His hormone profile revealed high levels of serum 17-hydroxyprogesterone, progesterone, and pregnenolone. In this case with a 46 XY karyotype, suspicions arose regarding Cytochrome P450 oxidoreductase deficiency due to ambiguous genitalia and an atypical hormone profile. Analysis unveiled two distinct homozygous and pathogenic variants in the CYP21A2 and CYP17A1 genes. Notably, mineralocorticoid precursors escalated, while cortisol and sex steroid precursors decreased during the high (250 mcg) dose ACTH stimulation test. The mutation c.1169C > G (p.Thr390Arg) in CYP17A1, which is the second documented case in literature, stands out due to its unique set of accompanying features. Mutations occurring in CYP21A2 and CYP17A1 result in complete or partial enzyme deficiencies, and the detection of homozygous mutations in two different enzyme systems within the steroidogenic pathway is noteworthy.

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.

Human Inborn Errors of Immunity (IEIs) encompass a clinically and genetically heterogeneous group of disorders, ranging from mild cases to severe, life-threatening types. Among these, Primary Immune Regulatory Disorders (PIRDs) constitute a subset of IEIs characterized by diverse clinical phenotypes, prominently featuring severe atopy, autoimmunity, lymphoproliferation, hyperinflammation, autoinflammation, and susceptibility to malignancies. According to the latest report from the International Union of Immunological Societies (IUIS), PIRDs arise from mutations in various genes including LYST, RAB27A, AP3B1, AP3D1, PRF1, UNC13D, STX11, STXBP2, FAAP24, SLC7A7, RASGRP1, CD70, CTPS1, RLTPR, ITK, MAGT1, PRKCD, TNFRSF9, SH2DIA, XIAP, CD27 (TNFRSF7), FAS (TNFRSF6), FASLG (TNFSF6), CASP10, CASP8, FADD, LRBA, STAT3, AIRE, ITCH, ZAP70, TPP2, JAK1, PEPD, FOXP3, IL2RA, CTLA4, BACH2, IL2RB, DEF6, FERMT1, IL10, IL10RA, IL10RB, NFAT5, TGFB1, and RIPK1 genes. We designed a targeted next-generation sequencing (TNGS) workflow using the Ion AmpliSeq™ Primary Immune Deficiency Research Panel to sequence 264 genes associated with IEIs on the Ion S5™ Sequencer. In this study, we report the identification of 38 disease-causing variants, including 16 novel ones, detected in 40 patients across 15 distinct PIRD genes. The application of next-generation sequencing enabled rapid and precise diagnosis of patients with PIRDs.

Diagnosing Alström syndrome in a patient followed up with syndromic obesity for years.

Alström syndrome (AS) is a rare autosomal recessive monogenic disorder caused by mutations of the Alström syndrome 1 (ALMS1) gene, located on chromosome 2p13. It is a progressive multisystemic disease characterized mostly by obesity, sensorineural hearing loss, visual impairments, cardiomyopathy, insulin resistance and/or type 2 diabetes mellitus (T2DM), metabolic dysfunctions, non-alcoholic fatty liver disease, and chronic progressive kidney disease. Generally, the first clinical symptoms of the disease appear in the first years of life with a major variation of onset age. In this study, we aimed to examine the molecular diagnosis of a 6-year-old patient with suspected AS clinical symptoms. After applying clinical exome sequencing (CES) in the patient we found a homozygous deletion in exon 8 at the ALMS1 gene (c.2311_2312del). We identified a homozygous frameshift mutation. The reported variant was pathogenic according to the criteria of the American College of Medical Genetics and Genomics (ACMG). Thus, the patient was diagnosed with AS as a result of the combined clinical phenotype and genetic tests results. We hope the variant we found can expand the spectrum of ALMS1 variants in AS.

The effect of the COVID-19 pandemic on metabolic control in children with type 1 diabetes: a single-center experience.

OBJECTIVES: Coronavirus disease 2019 has caused a major epidemic worldwide, and lockdowns became necessary in all countries to prevent its spread. This study aimed to evaluate the effects of staying-at-home practices on the metabolic control of children and adolescents with type 1 diabetes during the pandemic period. MATERIALS AND METHODS: Eighty-nine patients younger than 18 years old who were diagnosed with type 1 diabetes at least one year before the declaration of the pandemic were included in the study. The last visit data of the patients before and after the declaration of the pandemic, and the frequency of presentation of diabetes-related emergencies from one year after diagnosis of type 1 diabetes to the declaration of the pandemic, and from the declaration of the pandemic to the last visit after the pandemic declaration were compared. RESULTS: The total number of patients was 89, and 48 (53.9%) were boys. The mean (± standard deviation [SD]) age at diagnosis was 8.4 ± 3.7 years (boys 7.9 ± 3.6 years; girls 8.9 ± 3.9 years). There was no statistically significant difference when the SD values of the anthropometric measurements, and the glycosylated hemoglobin (HbA1c) and lipid profile tests were compared. However, the frequency of admission to the emergency service related to diabetes was significantly different. CONCLUSIONS: Although the pandemic did not significantly affect the metabolic and glycemic controls of the children with type 1 diabetes included in this study, an increase in the frequency of diabetes-related emergency admissions was noted.

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.

CONTEXT: Homozygous and heterozygous variants in PPP2R3C are associated with syndromic 46,XY complete gonadal dysgenesis (Myo-Ectodermo-Gonadal Dysgenesis (MEGD) syndrome), and impaired spermatogenesis, respectively. This study expands the role of PPP2R3C in the aetiology of gonadal dysgenesis (GD). METHOD: We sequenced the PPP2R3C gene in four new patients from three unrelated families. The clinical, laboratory, and molecular characteristics were investigated. We have also determined the requirement for Ppp2r3c in mice (C57BL6/N) using CRISPR/Cas9 genome editing. RESULTS: A homozygous c.578T>C (p.L193S) PPP2R3C variant was identified in one 46,XX girl with primary gonadal insufficiency, two girls with 46,XY complete GD, and one undervirilised boy with 46,XY partial GD. The patients with complete GD had low gonadal and adrenal androgens, low anti-Müllerian hormone, and high follicle-stimulating hormone and luteinizing hormone concentrations. All patients manifested characteristic features of MEGD syndrome. Heterozygous Ppp2r3c knockout mice appeared overtly normal and fertile. Inspection of homozygous embryos at 14.5, 9.5, and 8.5 days post coitum(dpc) revealed evidence of dead embryos. We conclude that loss of function of Ppp2r3c is not compatible with viability in mice and results in embryonic death from 7.5 dpc or earlier. CONCLUSION: Our data indicate the essential roles for PPP2R3C in mouse and human development. Germline homozygous variants in human PPP2R3C are associated with distinctive syndromic GD of varying severity in both 46,XY and 46,XX individuals.

Clinical follow-up data and the rate of development of precocious and rapidly progressive puberty in patients with premature thelarche.

BACKGROUND: We aimed to evaluate the clinical follow-up data of patients with premature thelarche and determine the rate of development of precocious and early puberty in these patients. METHODS: The charts of 158 girls with premature thelarche who were followed-up in our pediatric endocrinology polyclinic were reviewed. The patients were divided into three groups according to the age at onset: group 1 (0-1 month) (n=12), group 2 (1-24 months) (n=40) and group 3 (2-8 years) (n=106). RESULTS: At admission, the mean height standard deviation score (SDS), body weight (BW)-SDS, body mass index (BMI) and BMI-SDS were significantly higher in group 3 than in group 1 and group 2. At admission, 8.8% of the patients were obese and 24% of the patients were overweight. The majority of patients who were obese and overweight were in group 3. At the end of the follow-up, thelarche regressed in 24.7%, persisted in 32.9%, progressed in 25.9% and had a cyclic pattern in 16.5% of the patients. Precocious or rapidly progressive puberty developed in 47 of the 158 patients (29.7%). The mean age at progression to early or rapidly progressive puberty was 98.1±17.6 months. A total of 89.3% of the patients who progressed to early or rapidly progressive puberty were in group 3. CONCLUSIONS: Precocious or rapidly progressive puberty developed in 29.7% of subjects with premature thelarche. As patients who developed rapidly progressive puberty had a higher BW-SDS and BMI-SDS than those who did not, it is suggested that the increase in weight could stimulate rapidly progressive puberty in cases with premature thelarche.

Plasma homocysteine is associated with ischemic findings without organic stenosis in patients with slow coronary flow.

AIM: To investigate the plasma concentrations of homocysteine (Hcy) in slow coronary flow (SCF) patients before and at the end of the exercise test and compare with the values of healthy controls. METHODS: Study population consisted of 41 patients with SCF [68% men, aged 49 ± 8 years], and 41 subjects with normal epicardial coronary arteries [56% men, aged 50 ± 9 years]. Exercise test was performed in all study participants. Blood samples were drawn at rest and immediately at the end of exercise testing after 12h of overnight fasting. RESULTS: The baseline Hcy value of the SCF patients was higher than that of the control subjects (p<0.0001), and this difference continued after exercise test between the groups (p<0.0001). Median post-exercise increases in Hcy levels were higher in the SCF group than in the control group, without a significant difference (p=0.088). In the SCF group after exercise, Hcy levels in 17 patients with angina and 18 patients with ST depression were higher than those without angina and ST depression (p<0.0001 and p<0.0001, respectively). In addition, Hcy values in patients with both angina and ST depression were greater than those with either angina (p<0.05) or ST depression (p<0.05). CONCLUSION: The results of this study show that there is an important pathophysiologic link between the increased levels of plasma Hcy, the degree of ischemic findings, and the severity of slow flow in SCF patients.

Níveis NT-Pro-BNP e resposta ao exercício em pacientes com fluxo lento coronariano / NT-Pro-BNP levels and their response to exercise in patients with slow coronary flow

FUNDAMENTO: Os peptídeos natriuréticos são liberados pelo coração em resposta ao estresse da parede. OBJETIVO: As concentrações de NT-Pro-BNP em pacientes com Fluxo Lento Coronariano (FLC) foram avaliadas antes e depois do teste de exercício e comparados com os valores dos controles saudáveis. MÉTODOS: A população do estudo foi de 34 pacientes com FLC [22 homens (64,7%), com idade 51,0 ± 6,2 anos], e 34 indivíduos normais com artérias coronarianas normais [21 homens (61,8%), com idade 53,2 ± 6,6 anos]. As taxas de fluxo coronariano dos pacientes e controles foram determinadas pelo escore TIMI Trombólise no Infarto do Miocárdio (Thrombolysis in Myocardial Infarction). As amostras de sangue foram coletadas em repouso e após o teste ergométrico. RESULTADOS: As concentrações basais de NT-Pro-BNP nos pacientes com FLC foram superiores às dos indivíduos-controle (NT-Pro-BNP: 49,7 ± 14,2 pg/mL vs. 25,3 ± 4,6 pg/mL p <0,0001, respectivamente), e essa diferença entre os grupos aumentou após o teste de exercício (NT-Pro-BNP: 69,5 ± 18,6 pg/mL vs. 30,9 ± 6,4 pg/mL, p <0,0001). No grupo FLC após o exercício, a concentração de NT-Pro-BNP em 15 pacientes com angina foi maior do que aqueles sem angina (76,8 ± 17,8 pg/mL vs. 63,8 ± 17,5 pg/mL, p = 0,041).A concentração de NT-Pro-BNP em 11 pacientes com infradesnivelamento do segmento ST foi também maior do que aqueles sem infradesnivelamento do segmento ST (82,4 ± 17,3 pg/mL vs. 63,3 ± 16,1 pg/mL, p = 0,004). Os aumentos na mediana pós-exercício no NT-Pro-BNP (Δ NT-Pro-BNP) foram maiores no grupo FLC do que no grupo de controle (Δ NT-Pro-BNP: 19,8 ± 7,7 pg/mL vs. 5,7 ± 4,5 pg/mL, p < 0,0001). CONCLUSÃO: Os resultados deste estudo sugerem que pode haver uma ligação fisiopatológica importante entre a gravidade do FLC (microvascular ou disfunção da artéria coronária epicárdica) e o nível de circulação de NT-Pro-BNP em pacientes com FLC.

BACKGROUND: Natriuretic peptides are released by the heart in response to wall stress. OBJECTIVE: The NT-Pro-BNP concentrations in slow coronary flow (SCF) patients were assessed before and after the exercise test and compared with the values of healthy controls. METHODS: The study population was 34 patients with SCF [22 males (64.7%), aged 51.0±6.2 years], and 34 normal subjects with normal coronary arteries [21 males (61.8%), aged 53.2±6.6 years]. Coronary flow rates of all patients and control subjects were documented as Thrombolysis in Myocardial Infarction (TIMI) frame count. Blood samples were drawn at rest and after the exercise testing. RESULTS: The baseline NT-Pro-BNP concentrations of the SCF patients were higher than those of the control subjects (NT-Pro-BNP: 49.7±14.2 pg/mL vs. 25.3±4.6 pg/mL p<0.0001, respectively), and this difference increased after exercise test between the groups (NT-Pro-BNP: 69.5±18.6 pg/mL vs. 30.9±6.4 pg/mL p<0.0001). In SCF group after exercise, NT-Pro-BNP concentration in 15 patients with angina was higher than those without angina (76.8 ± 17.8 pg/mL vs. 63.8±17.5 pg/mL p=0.041). NT-Pro-BNP concentration in 11 patients with ST depression was also higher than those without ST depression (82.4 ± 17.3 pg/mL vs. 63.3 ± 16.1 pg/mL p=0.004). Median post-exercise increases in NT-Pro-BNP (Δ NT-Pro-BNP) were higher in the SCF group than in the control group (Δ NT-Pro-BNP: 19.8±7.7 pg/mL vs. 5.7±4.5 pg/mL p<0.0001). CONCLUSION: The results of this study suggest that there may be an important pathophysiologic link between the severity of SCF (microvascular or epicardial coronary artery dysfunction) and the level of circulating NT-Pro-BNP in SCF patients.

NT-Pro-BNP levels and their response to exercise in patients with slow coronary flow.

BACKGROUND: Natriuretic peptides are released by the heart in response to wall stress. OBJECTIVE: The NT-Pro-BNP concentrations in slow coronary flow (SCF) patients were assessed before and after the exercise test and compared with the values of healthy controls. METHODS: The study population was 34 patients with SCF [22 males (64.7%), aged 51.0 ± 6.2 years], and 34 normal subjects with normal coronary arteries [21 males (61.8%), aged 53.2 ± 6.6 years]. Coronary flow rates of all patients and control subjects were documented as Thrombolysis in Myocardial Infarction (TIMI) frame count. Blood samples were drawn at rest and after the exercise testing. RESULTS: The baseline NT-Pro-BNP concentrations of the SCF patients were higher than those of the control subjects (NT-Pro-BNP: 49.7 ± 14.2 pg/mL vs. 25.3 ± 4.6 pg/mL p<0.0001, respectively), and this difference increased after exercise test between the groups (NT-Pro-BNP: 69.5 ± 18.6 pg/mL vs. 30.9 ± 6.4 pg/mL p<0.0001). In SCF group after exercise, NT-Pro-BNP concentration in 15 patients with angina was higher than those without angina (76.8 ± 17.8 pg/mL vs. 63.8 ± 17.5 pg/mL p=0.041). NT-Pro-BNP concentration in 11 patients with ST depression was also higher than those without ST depression (82.4 ± 17.3 pg/mL vs. 63.3 ± 16.1 pg/mL p=0.004). Median post-exercise increases in NT-Pro-BNP (Δ NT-Pro-BNP) were higher in the SCF group than in the control group (Δ NT-Pro-BNP: 19.8 ± 7.7 pg/mL vs. 5.7 ± 4.5 pg/mL p<0.0001). CONCLUSION: The results of this study suggest that there may be an important pathophysiologic link between the severity of SCF (microvascular or epicardial coronary artery dysfunction) and the level of circulating NT-Pro-BNP in SCF patients.

The distribution of circulating microRNA and their relation to coronary disease.

BACKGROUND: MicroRNAs (miRNAs) are small RNAs that regulate gene expression by suppressing protein translation and may influence RNA expression. MicroRNAs are detected in extracellular locations such as plasma; however, the extent of miRNA expression in plasma its relation to cardiovascular disease is not clear and many clinical studies have utilized array-based platforms with poor reproducibility. METHODS AND RESULTS: Initially, to define distribution of miRNA in human blood; whole blood, platelets, mononuclear cells, plasma, and serum from 5 normal individuals were screened for 852 miRNAs using high-throughput micro-fluidic quantitative RT-PCR (qRT-PCR). In total; 609, 448, 658, 147, and 178 miRNAs were found to be expressed in moderate to high levels in whole blood, platelets, mononuclear cells, plasma, and serum, respectively, with some miRNAs uniquely expressed. To determine the cardiovascular relevance of blood miRNA expression, plasma miRNA (n=852) levels were measured in 83 patients presenting for cardiac catheterization. Eight plasma miRNAs were found to have over 2-fold increased expression in patients with significant coronary disease (≥70% stenosis) as compared to those with minimal coronary disease (less than 70% stenosis) or normal coronary arteries. Expression of miR-494, miR-490-3p, and miR-769-3p were found to have significantly different levels of expression. Using a multivariable regression model including cardiovascular risk factors and medications, hsa-miR-769-3p was found to be significantly correlated with the presence of significant coronary atherosclerosis. CONCLUSIONS: This study utilized a superior high-throughput qRT-PCR based method and found that miRNAs are found to be widely expressed in human blood with differences expressed between cellular and extracellular fractions. Importantly, specific miRNAs from circulating plasma are associated with the presence of significant coronary disease.

The relationship between paraoxonase-1 activity and coronary artery disease in patients with metabolic syndrome.

OBJECTIVES: We investigated the correlation of serum paraoxonase-1 (PON-1) activity with coronary artery disease (CAD) in patients with metabolic syndrome (MetS). STUDY DESIGN: The study included 21 patients (mean age 55 ± 9 years) with MetS, stable angina pectoris, and angiographically shown CAD, 24 patients (mean age 51 ± 10 years) with MetS and angiographically normal coroner arteries, and 28 healthy controls (mean age 49 ± 12 years). Demographic and clinical characteristics, insulin levels, homeostasis model assessment of insulin resistance index, and PON-1 activity were assessed in all the groups. Severity of CAD was assessed using the Gensini score. RESULTS: Paraoxonase-1 activity was significantly lower in patients with MetS compared to the control group (p=0.02). The two MetS groups with and without CAD exhibited similar characteristics in all the parameters including PON-1 activity (p>0.05). Univariate correlation analysis performed in MetS-CAD patients showed a significant negative correlation between the Gensini score and PON-1 activity (r=-0.48, p=0.02). The overall PON-1 activity of all the subjects showed no correlation with the parameters examined. CONCLUSION: Decreased PON-1 activity in patients with MetS compared to the control group suggests increased oxidative stress in MetS. Detection of similar PON-1 activity levels in MetS groups with and without CAD suggests that disturbance of oxidative-antioxidative balance occurs before the development of CAD. The negative correlation between the Gensini score and PON-1 activity implies that decreased PON-1 activity may be one of the etiologic causes of atherosclerotic progress in MetS.

Is there any relation between coronary atherosclerosis and tympanosclerosis?

OBJECTIVE: Atherosclerosis is a chronic inflammatory disease of medium and large-sized arteries. Tympanosclerosis is the hyalinization and calcification of the connective tissue in the middle ear, including the tympanic membrane. The etiology and pathogenesis of tympanosclerosis are still controversial. There are some reports about the possible relationship between development of tympanosclerosis and atherosclerosis. Therefore, we aimed a cross-sectional study to investigate relationship between tympanosclerosis and atherosclerosis in patients referred for coronary angiography. METHODS: The study population consisted of 203 consecutive patients (145 men, mean age 59+/-11 years) who underwent coronary angiography. Otoscopic examination was performed in all patients. All angiographies were examined to calculate coronary artery vessel stenosis and extent scores. Mann-Whitney U test was used to compare the angiographic scores with existence of tympanosclerosis. RESULTS: Among the 203 patients, 35 (17%) patients had angiographically normal coronary arteries without any atheroma plaque and 168 (83%) had coronary atherosclerosis. In the otoscopic examination, tympanosclerosis was found in 14 patients (6.9%). No significant differences in distribution of clinical atherosclerotic risk factors (age, gender, body mass index, hypertension, diabetes mellitus, cigarette smoking and cholesterol levels) were found between groups with and without tympanosclerosis. Tympanosclerosis was found in 4 patients with normal coronary arteries (11.4%). In the group of coronary atherosclerosis, 10 patients have tympanosclerosis (5.9%). In addition, there was no statistically significant association of coronary artery vessel, stenosis or extent scores of atherosclerosis with tympanosclerosis (p>0.05). CONCLUSIONS: We could not find any association between tympanosclerosis and angiographic extent and severity of atherosclerosis, contrary to other studies. More studies are needed to understand etiological mechanisms and association between them.

Admission levels of C-reactive protein and plasminogen activator inhibitor-1 in patients with acute myocardial infarction with and without cardiogenic shock or heart failure on admission.

Scarce data exist on the relationship of C-reactive protein (CRP) or plasminogen activator inhibitor-1 (PAI-1) to the occurrence of heart failure (HF) or cardiogenic shock (CS) after acute myocardial infarction (AMI) and on the relationship between these biomarkers and mortality in CS patients. Thus, we compared high-sensitivity CRP and PAI-1 antigen plasma levels on admission among 3 age- and gender-matched AMI patients groups (consisting of 60 patients with CS, 60 with HF, and 60 without HF on admission), after determining that PAI-1 levels did not vary significantly diurnally in these groups by comparing the data among subgroups which were divided according to admission time within the groups. For CS patients, we also conducted regression analyses to examine the relations of these biomarkers to mortality. CRP levels both in CS (P < 0.001) and HF (P < 0.05) patients were significantly higher compared to those without HF, PAI-1 levels in CS patients were significantly higher compared to both those with (P < 0.05) and without HF (P > 0.01), and CRP and PAI-1 were independent predictors of in-hospital (Odds ratio [OR] = 6.12, 95% confidence intervals [95%CI] = 1.47-25.54 and OR = 5.92, 95%CI = 1.31-26.77, respectively) and 1-year mortality (OR = 5.53, 95%CI = 1.21-25.17 and OR = 5.48, 95%CI = 1.09-27.52, respectively) in CS patients. In conclusion, at admission, CRP is associated with the occurrence of CS and HF and PAI-1 is associated with the occurrence of CS after AMI, and they are of prognostic value in CS complicating AMI.

The correlation of thrombolysis in myocardial infarction frame count with insulin resistance in patients with slow coronary flow.

BACKGROUND: It has been reported that coronary endothelial dysfunction plays an important pathogenetic role in patients with slow coronary flow (SCF). Insulin resistance is defined as impairment of insulin-stimulated glucose and/or lipid metabolism, while endothelial dysfunction is defined as paradoxical or inadequate endothelial-mediated vasodilation. In this study, we aimed to evaluate insulin resistance in patients with SCF. METHODS: The study population included 25 patients with SCF and 28 healthy controls. Insulin resistance was estimated via homeostasis model assessment insulin resistance index (HOMA-IR). RESULTS: Patients with SCF had higher high-sensitive C-reactive protein (hs-CRP) and HOMA-IR scores (P<0.05) than controls. Mean thrombolysis in myocardial infarction frame count had significant correlation with hs-CRP, fasting plasma insulin levels and HOMA-IR score (r=0.566, P<0.05; r=0.883, P<0.05; r=0.884, P<0.05, respectively). CONCLUSION: In patients with SCF, thrombolysis in myocardial infarction frame counts and hs-CRP are correlated with increased insulin resistance and thus, it can be suggested that insulin resistance and inflammation may, in part, have a role in the pathogenesis of SCF.

Angiographic and clinical outcome following sirolimus-eluting stent (Cypher) implantation. A single center experience.

OBJECTIVES: To investigate the late outcomes of sirolimus-eluting stent implantation in patients with coronary artery disease. BACKGROUND: Drug-eluting stents reduce intimal hyperplasia, which is the main cause of in-stent restenosis. Sirolimus-eluting stents significantly reduce clinical and angiographic restenosis and improve event-free survival. METHODS: The study population consisted of 207 patients (273 stents) who had undergone coronary Cypher stent implantation. Patients were eligible for enrollment if there was symptomatic coronary artery disease or positive exercise testing, and angiographic evidence of single or multivessel disease with a target lesion stenosis of > or = 70% in a > or = 2.25 mm vessel. Follow-up coronary angiography was performed 18 months after stent deployment. Patients were followed-up for a mean of 24.7 +/- 7.4 months. RESULTS: All patients survived after stent implantation, but 5 (2.4%) patients experienced acute ST elevation myocardial infarction and 4 (1.9%) patients developed non-Q wave myocardial infarction following angioplasty. Recurrent angina pectoris was observed in 16 (7.7%) patients (11 stable angina pectoris and 5 unstable angina pectoris). Angiographic evidence of restenosis was observed in these 20 (9.66%) patients. The 5 other patients had noncritical angiographic restenosis. Eleven (5.3%) patients underwent angioplasty because of restenosis, and coronary artery bypass grafting was conducted in the other 9 (4.3%) patients. CONCLUSION: The results of the present study indicate that Cypher stents could be implanted with a very high success rate and have encouraging long-term angiographic and clinical results.

Coronary angioplasty induced oxidative stress and its relation with metoprolol use and plasma homocysteine levels.

OBJECTIVE: Short episodes of myocardial ischemia during coronary angioplasty may induce oxidative stress and increase lipid peroxidation. The aim of this study was to determine the effect of metoprolol on lipid peroxidation by measurements of malondialdehyde (MDA) and total antioxidant capacity (TRAP) in patients undergoing angioplasty. The relations between homocysteine level and lipid peroxidation were also studied. METHODS: Forty-six patients (mean age 57 years, 37 males) undergoing elective angioplasty were enrolled. Metoprolol treatment was initiated in 27 patients (group 1), meanwhile 19 patients could not take metoprolol due to diverse contraindications (group 2). RESULTS: Following angioplasty, while venous MDA levels decreased in group 1 (0.188+/-0.021 vs. 0.159+/-0.020 nmol/ml, p=0.05), an increase was detected in group 2 (0.203+/-0.025 vs. 0.229+/-0.024 nmol/ml, p=0.045) as compared with baseline levels. In group 1, TRAP levels markedly increased after angioplasty in venous samples (1.201+/-0.036 vs. 1.478+/-0.044 mmol/L, p=0.0001). However, small increase was observed for TRAP in group 2 (1.274+/-0.043 vs. 1.363+/-0.053 mmol/L, p=0.05). There was no significant change in plasma homocysteine levels with angioplasty. There was no significant correlation between homocysteine, changes in MDA and TRAP levels either. CONCLUSION: Administration of metoprolol may cause a reduction in the oxidative stress and an increase in the antioxidant activity in patients undergoing elective angioplasty.

Angiographic and clinical outcome following paclitaxel-eluting stent (taxus) implantation: a single center experience.

Coronary stents dramatically improve acute outcomes of percutaneous coronary interventions but also induce abundant intraluminal neointimal growth. Drug-eluting stents reduce intimal hyperplasia, the main cause of in-stent restenosis. The safety and beneficial effects of paclitaxel-eluting stents (Taxus) in patients treated in daily practice remains to be defined. The aim of this study was to report the late outcomes of Taxus implantation in patients with coronary artery disease. The study population consisted of 151 patients (202 stents) who had undergone coronary Taxus stent implantation between March 2003 and May 2005. Patients were eligible for enrollment if there was symptomatic coronary artery disease or positive functional testing, and angiographic evidence of single or multivessel disease with a target lesion stenosis of 70% in a 2.0 mm vessel. The control coronary angiographies were performed after stent deployment at 12 +/- 2.8 months, and approximately 2 years of follow-up was completed. The polymer-based paclitaxel-eluting stent has been shown to be effective in reducing restenosis. Patients were followed-up for 16.7 +/- 7.4 months. All patients survived after stent implantation, but 2 (1.3%) patients experienced acute myocardial infarction after 3 and 9 months following angioplasty. Recurrent angina pectoris was observed in 3 patients. Angiographic evidence of restenosis was observed in these 5 patients. Three patients underwent angioplasty because of re- stenosis, and coronary artery bypass grafting was conducted in the other 2 patients. The results indicate that Taxus stents can be implanted with a very high success rate and have encouraging long-term angiographic and clinical results.