Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey.

OBJECTIVE: Congenital heart defects occur in approximately 50% of children with Down syndrome and they contribute considerably to morbidity and mortality. The aim of this study is to investigate the prevalence, classification, and survival of congenital heart defects in Down syndrome. MATERIALS AND METHODS: About 1731 Down syndrome patients who underwent echocardiography between 1986 and 2022 were evaluated. The median follow-up duration was 8.7 years (range 1-35.8 years). Congenital heart defect was grouped as cyanotic and acyanotic. RESULTS: Among the 1731 patients, 52.1% had congenital heart defects. Congenital heart defect was significantly more common in females than males. The most common cardiac defect was ventricular septal defect (35%), followed by atrial septal defect (31.8%), atrioventricular septal defect (23.4%), tetralogy of Fallot (5%), and patent ductus arteriosus (3.6%). In the follow-up, 43.2% of atrial septal defect, 17.8% of ventricular septal defect, and a total of 20% of congenital heart defects were closed spontaneously. About 34.4% of congenital heart defect was corrected by cardiac surgery/intervention. Five-year survival rate was 97.4% in patients without congenital heart defects, whereas it was 95.6% in mild congenital heart defects and 86.1% in moderate to severe congenital heart defects. There was no relationship between consanguinity, parental age, maternal disease, folic acid supplementation before/during pregnancy, gestational age, birth weight, and congenital heart defects. Neuromotor development was similar in patients with and without congenital heart defects. CONCLUSION: We demonstrated that almost half of the patients had congenital heart defects; ventricular septal defect was the most common congenital heart defect type. This study is valuable in terms of the largest single-center study describing the classification, prognostic factors, and survival of Down syndrome patients with congenital heart defect from Turkey.

Can biomarkers predict myocardial iron overload in children with thalassemia major?

AIM: Beta-thalassemia major requires regular blood transfusions throughout life, which in turn leads to iron accumulation in the body. While cardiac T2* MRI is the gold standard in determining cardiac iron accumulation, it is not always feasible, which has led to the search for new biomarkers. Herein, the value of growth differentiation factor-15, galectin-3, and N-terminal pro-B-type natriuretic peptide in predicting cardiac iron accumulation is investigated in asymptomatic children with beta-thalassemia major. MATERIALS AND METHOD: Forty-one patients aged 11-21 years and 41 age-, gender-, body mass index-matched healthy controls were included. Serum growth differentiation factor-15, galectin-3, and N-terminal pro-B-type natriuretic peptide levels were compared between the patients and controls. Additionally, the relations of these biomarkers with cardiac and liver T2 * MRI were investigated in the patients. RESULTS: In the patients, growth differentiation factor-15, galectin-3, and N-terminal pro-B-type natriuretic peptide levels were higher than healthy controls (p < 0.001, p = 0.025, p < 0.001, respectively). There were no significant correlations of growth differentiation factor-15 and N-terminal pro-B-type natriuretic peptide levels with both cardiac and liver T2 * MRI measurements. While there was no significant correlation of serum galectin-3 with cardiac T2 * MRI measurements, a negative correlation was found with liver T2 * MRI measurements (p = 0.040, rho = -0.325). CONCLUSION: All three biomarkers investigated in this study failed to predict myocardial iron accumulation in asymptomatic children with beta-thalassemia major. However, a weak relation between serum galectin-3 level and hepatic iron accumulation was demonstrated.

Early and Mid-Term Follow-Up Results After Transcatheter Closure of Secundum Atrial Septal Defect.

OBJECTIVE: Transcatheter secundum type atrial septal defect closure is an alternative to surgical closure in many cases when conditions are appropriate. In this study, the demographic data and follow-up results of patients with secundum atrial septal defect undergoing transcatheter closure were discussed. MATERIALS AND METHODS: Data of patients who underwent transcatheter closure of secundum atrial septal defect between 2004 and 2017 were investigated retrospectively. Gender, age at intervention, defect size, procedure duration, fluoroscopy time, periprocedural complications, residual shunt existence, and early and mid-term follow-up results were collected. RESULTS: A total of 179 patients [41% males; 10% adults, median age: 8.1 years (1.3-58.6); weight: 28 kg (11-90)] were admitted to catheterization for atrial septal defect closure and their median atrial septal defect size was 13 mm (6-30); 74 (41%) patients had a large atrial septal defect (≥12 mm). Suitable defects for closure were observed in 165 of 179 patients. The procedural success rate was 95.7%. No death was observed; however, minor complications occurred in 3 patients during the procedure (1.6%). The rate of residual shunt after 1 year was 1.3%, and all shunts were mild. After a median follow-up of 2.8 years (range, 6 months to 13.6 years), delayed major complications such as death, cardiac erosion, and infective endocarditis were not experienced. The delayed minor complication was supraventricular extrasystole in 1 patient. CONCLUSION: Transcatheter atrial septal defect closure is safe in children and adults with a minimal rate of periprocedural and delayed complications. It has a favorable early and mid-term outcome in our study, especially with no death or major complications.

Evaluation of left ventricular function and myocardial deformation in children with beta-thalassemia major by real-time three-dimensional (four-dimensional) and speckle tracking echocardiography.

AIM: This study aimed to evaluate the role of real-time three-dimensional (four-dimensional) and speckle tracking echocardiography for early detection of left ventricular systolic dysfunction and also for the relationship between myocardial deformation parameters and myocardial iron load which is measured by cardiac magnetic resonance relaxation time T2* values in asymptomatic children with beta-thalassemia major. MATERIAL AND METHODS: This multicenter cross-sectional study included 40 patients (mean age 15.4 ± 2.9, 42.1% male) and 40 healthy children whose age, gender, and body mass index-matched with patients. Each participant underwent conventional echocardiography and tissue Doppler imaging. Left ventricular ejection fraction; global longitudinal, circumferential, radial strains; twist; and torsion were measured by real-time three-dimensional and speckle tracking echocardiography. Cardiac magnetic resonance imaging T2* was measured in patients. RESULTS: Left ventricular global longitudinal, circumferential, and radial strains were decreased despite preserved global ventricular function in patients compared to healthy children (p = p = .029, p = p < .001, p = .003, respectively). There were no statistically significant differences between patients with T2* ≥ 20 ms and patients with T2* < 20 ms for all echocardiographic parameters. Also, there were no significant correlations between all echocardiographic parameters and T2* values in all patients, those with T2* ≥ 20 ms, and T2* < 20 ms. CONCLUSION: We found that even in asymptomatic children with beta-thalassemia major, left ventricular longitudinal, circumferential and, radial functions were impaired by real-time three-dimensional (four-dimensional) and speckle tracking echocardiography. This novel echocardiographic method might be an important tool for detecting subclinical left ventricular systolic dysfunction irrespective of T2* values.

Investigating the relationship between personality, chronotype, computer game addiction, and sleep quality of high school students: A structural equation modelling approach.

This study examines the relationship between high school students' age, gender, personality, computer game addiction, chronotype, and sleep quality using structural equation modelling. For this purpose, the study was planned according to the correlational research design, one of the most common quantitative research methods. The sample of the study consisted of 922 students who accepted to participate and completed the scales. Of the 922 high school students in the sample, 528 were girls, and 394 were boys. In the study, the Computer Game Addiction Scale for Adolescents, Sleep Quality Scale, Composite Scale of Morningness (CSM), and Big Five Inventory were used to measure the variables. Among the variables involved, personality traits, such as consciousness, neuroticism, and openness to experience, were significantly related with morningness-eveningness. Besides, gender and being evening or morning types were found to be significantly related with game addiction. However, sleep quality was predicted by computer game addiction and morningness-eveningness. It was found that the fit indices of the model have an acceptable and good fit in explaining the variables.

Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.

Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by lipoatrophy affecting the face, limbs and trunk, acromegaloid features, hepatomegaly, hypertriglyceridemia, and insulin resistance. The aim of this study is to evaluate the long-term follow-up findings including gastrointestinal and cardiac manifestations of the patients with CGL1 and CGL4, caused by mutations in the AGPAT2 and CAVIN1 genes, respectively. Two patients aged 2 and 9 years with the same biallelic CAVIN1 mutation and five patients aged between 6 months and 11 years 4 months with AGPAT2 mutations have been followed up for 3-9 years. The patients were between 7 and 20 years of age at their last examination. One of the two patients with CGL4 had congenital pyloric stenosis. The other patient with CGL4 have developed recurrent duodenal perforations which have not been reported in CGL patients previously. The pathological examination of duodenal specimens revealed increased subserosal fibrous tissue and absent submucosal adipose tissue. None of the five CGL1 patients had gastrointestinal problems. Two patients with CGL4 developed hypertrophic cardiomyopathy (HCMP) and severe cardiac arrhythmia, only one patient with CGL1 had HCMP. Hyperinsulinemia was detected in one patient with CGL4 and three patients with CGL1, these three CGL1 patients also had acanthosis nigricans. Hepatic steatosis was detected in one patient with CGL4 and two patients with CGL1 by ultrasonography. In conclusion, these findings suggest that CGL4 patients should also be carefully followed up for gastrointestinal and cardiac manifestations.

A rare cause of sudden cardiac arrest: Catecholaminergic polymorphic ventricular tachycardia.

Catecholaminergic polymorphic ventricular tachycardia is a rhythm disorder that develops due to genetic reasons in the absence of structural cardiac abnormalities. Ventricular tachycardia, ventricular fibrillation, cardiac arrest, and death may occur. Two-year-old patient presented to the Emergency Department with sudden cardiac arrest. He had syncope attacks after playing with his brother and he was followed up by the pediatric neurology and cardiology clinics. Cardiopulmonary resuscitation was performed, and he was then transferred to the Intensive Care Unit because of hypotension; dobutamine and norepinephrine treatment was started. After treatment, ventricular tachycardia, ventricular fibrillation, and cardiac arrest developed. Dobutamine and noradrenaline was stopped immediately and amiodarone was started. A genetic test revealed heterozygote missense mutation (c.9110G>A(p.Gly3037Asp)) in exon 64 of the RYR2 gene, which is compatible with catecholaminergic polymorphic ventricular tachycardia. This mutation has been reported in the literature for the first time. This case is presented with the purpose of highlighting catecholaminergic polymorphic ventricular tachycardia.

Echocardiographic Follow-Up of Congenital Aortic Valvular Stenosis II.

We evaluated the natural course of congenital aortic valvular stenosis (AVS) and factors affecting AVS progression during long-term follow-up with echocardiography. Medical records of 388 patients with AVS were reviewed; patients with concomitant lesions other than aortic regurgitation (AR) were excluded. Trivial AVS was defined as a transvalvular Doppler peak systolic instantaneous gradient of < 25 mmHg; mild stenosis, 25-49 mmHg; moderate stenosis, 50-75 mmHg; and severe stenosis, > 75 mmHg. Median age of the patients was 3 years (range 0 day to 21 years), and 287 (74%) were male. A total of 355 patients were followed with medical treatment alone for a median of 4.6 years (range 1 month to 20.6 years), and the degree of AVS increased in 75 (21%) patients. The risk of AVS progression was higher when AVS was diagnosed in neonates (OR 4.29, CI 1.81-10.18, p = 0.001) and infants (OR 3.79, CI 2.21-6.49, p = 0.001). After the infancy period, bicuspid valve morphology increased AVS progression risk (OR 2.4, CI 1.2-4.6, p = 0.034). Patients with moderate AVS were more likely to have AVS progression (OR 2.59, CI 1.3-5.1, p = 0.006). Bicuspid valve morphology increased risk of AR development/progression (OR 1.77, CI 1.1-2.7, p = 0.017). The patients with mild and moderate AVS were more likely to have AR development/progression (p = 0.001). The risk of AR development/progression was higher in patients with AVS progression (OR 2.25, CI 1.33-3.81, p = 0.002). Newborn babies and infants should be followed more frequently than older patients according to disease severity. Bicuspid aortic valve morphology and moderate stenosis are risk factors for the progression of AVS and AR.

Comparison of Balloon Dilatation and Surgical Valvuloplasty in Non-critical Congenital Aortic Valvular Stenosis at Long-Term Follow-Up.

The two main modalities used for congenital aortic valvular stenosis (AVS) treatment are balloon aortic valve dilatation (BAD) and surgical aortic valvuloplasty (SAV). This study evaluates residual and recurrent stenosis, aortic regurgitation (AR) development/progression, reintervention rates, and the risk factors associated with this end point in patients with non-critical congenital AVS who underwent BAD or SAV after up to 18 years of follow-up. From 1990 to 2017, 70 consecutive interventions were performed in patients with AVS, and 61 were included in this study (33 BADs and 28 SAVs). There were no significant differences in age, sex distribution, PSIG, and AR frequency between the BAD and SAV groups. Bicuspid valve morphology was more common in the BAD group than the SAV group. There was no statistically significant difference between PSIGs and AR development or progression after intervention at the immediate postoperative echocardiography of patients who underwent BAD or SAV (p = 0.82 vs. p = 0.29). Patients were followed 6.9 ± 5.1 years after intervention. The follow-up period in the SAV group was longer than that of the BAD group (9.5 ± 5.4 vs. 5.5 ± 4.4 years, p = 0.003). There was no statistically significant difference in the last echocardiographic PSIG between patients who underwent SAV or BAD (51.1 ± 33.5 vs. 57.3 ± 35.1, p = 0.659). Freedom from reintervention was 81.3% at 5 years and 57.5% at 10 years in the BAD group and 95.5% at 5 years and 81.8% at 10 years in the SAV group, respectively (p = 0.044). There was no difference in postprocedural immediate PSIG and last PSIG at follow-up and the development/progression of AR between patients who were treated with BAD versus SAV. However, long-term results of SAV were superior to those of BAD, with a somewhat prolonged reintervention interval.

Early Effects of Renal Replacement Therapy on Cardiovascular Comorbidity in Children With End-Stage Kidney Disease: Findings From the 4C-T Study.

BACKGROUND: The early impact of renal transplantation on subclinical cardiovascular measures in pediatric patients has not been widely investigated. This analysis is performed for pediatric patients participating in the prospective cardiovascular comorbidity in children with chronic kidney disease study and focuses on the early effects of renal replacement therapy (RRT) modality on cardiovascular comorbidity in patients receiving a preemptive transplant or started on dialysis. METHODS: We compared measures indicating subclinical cardiovascular organ damage (aortal pulse wave velocity, carotid intima media thickness, left ventricular mass index) and evaluated cardiovascular risk factors in 166 pediatric patients before and 6 to 18 months after start of RRT (n = 76 transplantation, n = 90 dialysis). RESULTS: RRT modality had a significant impact on the change in arterial structure and function: compared to dialysis treatment, transplantation was independently associated with decreases in pulse wave velocity (ß = -0.67; P < 0.001) and intima media thickness (ß = -0.40; P = 0.008). Independent of RRT modality, an increase in pulse wave velocity was associated with an increase in diastolic blood pressure (ß = 0.31; P < 0.001). Increasing intima media thickness was associated with a larger increase in body mass index (ß = 0.26; P = 0.003) and the use of antihypertensive agents after RRT (ß = 0.41; P = 0.007). Changes in left ventricular mass index were associated with changes in systolic blood pressure (ß = 1.47; P = 0.01). CONCLUSIONS: In comparison with initiating dialysis, preemptive transplantation prevented further deterioration of the subclinical vascular organ damage early after transplantation. Classic cardiovascular risk factors, such as hypertension and obesity are of major importance for the development of cardiovascular organ damage after renal transplantation.

The Effect of Erythropoietin in Preventing Ischemia-Reperfusion Injury in Ovarian Tissue Transplantation.

Condensation Erythropoietin improved the survival of follicles in ovarian grafts most likely by reducing ischemic injury, by improving neoangiogenesis, and by its antioxidant effects. OBJECTIVE: Ovarian tissue cryopreservation and transplantation are the only options accepted for prepubertal girls and women requiring immediate chemotherapy. Ischemia-reperfusion injury is the main obstacle for ovarian tissue transplantation. In the present study, we aimed to evaluate the effects of recombinant human erythropoietin (EPO) on tissue viability in autotransplanted rat ovaries. STUDY DESIGN: Seventeen female rats were randomized into 3 groups as sham control group (n = 5), EPO-treated group (n = 6), and EPO-untreated group (n = 6). Both ovaries were excised and transplanted into a subcutaneous pouch formed at the anterior abdominal wall in the EPO-treated and untreated groups. In the EPO group, 5000 U/kg EPO was applied as local injection to the site that ovarian tissue was placed and the dose was repeated with the same route at the end of the fourth week. After 2 months, ovaries were removed and blood samples were obtained. Levels of estradiol (E2), vascular endothelial growth factor (VEGF), VEGF-C, and lipid hydroperoxidase (LPO) and the activity of glutathione peroxidase (GPX), superoxide dismutase (SOD), and catalase (CAT) were measured both in blood and tissue samples. Histopathological and morphometric analyses were also performed on tissue samples. RESULTS: Considering serum levels, mean CAT was significantly higher ( P = .003) and mean SOD ( P = .033), LPO ( P = .050), VEGF ( P = .001), and VEGF-C ( P = .024) were significantly lower in the EPO-treated group than in the untreated group. Mean serum GPX levels were similar. Significantly higher levels of E2 were determined in the EPO group than in the untreated group. Highest serum E2 levels were found in the sham group ( P = .001). Tissue levels of GPX (1.23) and CAT (53.17) were significantly higher in the EPO group ( P = .002 and P = .001, respectively). However, tissue levels of SOD and LPO, VEGF, and VEGF-C levels were significantly lower in the EPO group than those in the untreated group ( P = .033, P = .050, P = .002, and P = .003, respectively). In tissue examination, the highest values of x, y axis and epithelial height were in the sham group. Mean value of the EPO group was found statistically significantly higher than that of the untreated group ( P ≤ .05). In terms of antral follicle count, ordering was found as sham > EPO-treated > EPO-untreated group. Follicle counts in the EPO group were significantly higher than those in the untreated group ( P ≤ 0.05). CONCLUSION: Erythropoietin improved the survival of follicles in ovarian grafts most likely by reducing ischemic injury, by improving neoangiogenesis, and by its antioxidant effects.

Evaluation of Ventricular Septal Defect with Special Reference to the Spontaneous Closure Rate, Subaortic Ridge, and Aortic Valve Prolapse II.

The medical records of 2283 patients with ventricular septal defect (VSD) were reviewed to determine spontaneous closure, left ventricular-to-right atrial shunt, subaortic ridge, and aortic valve prolapse. One thousand eight hundred and twenty-three patients had been followed 1 month to 26 years (median 4 years) by echocardiography. Most of 460 patients could not be followed due to transportation of the institution. VSD was perimembranous in 68.8% (1255), trabecular muscular in 21.7% (395), muscular outlet in 6% (109), muscular inlet in 2.6% (48), and doubly committed subarterial in 0.9% (16). Defect size was classified in 66.8% (1218) as small, in 15.7% (286) as moderate, and in 17.5% (319) as large. VSD closed spontaneously in 18.8% (343 of 1823 patients) by ages 40 days to 24.9 years (median, 1.8 years). One hundred fifty-seven of 1255 perimembranous defects (12.5%) and 167 of 395 trabecular muscular defects (42%) closed spontaneously (p < 0.001). Defect size became small in 306 (16.8%) of patients with VSD at a median of 2.5 years. Aneurysmal transformation was detected in 32.9% (600), left ventricular-to-right atrial shunt in 9.7% (176), subaortic ridge in 2.6% (48) of 1823 patients who were followed. In 381 (20.9%) of the 1823 patients, the VSD had been closed by a surgical or transcatheter technique. Surgery is required in one-fifth of patients with subaortic ridge or aortic valve prolapse. In conclusion, isolated VSDs are usually benign abnormalities that tend to shrink and close spontaneously.

Antegrade transvenous balloon angioplasty for coarctation of the aorta in infants with ventricular septal defect.

For a newborn, surgical correction has been the primary treatment of native coarctation at most centers; however, there has been an increased use of balloon angioplasty (BA). The anterograde transvenous (AT) technique is another alternative way for coarctation (AoC) angioplasty in low weight patients with large ventricular septal defect (VSD). Four, 5-day-old to 7-month-old, infants weighing 2500, 2700, 2800, and 3400g, respectively presented to emergency unit (EU) with cyanosis, tachypnea, and loss of weight. Echocardiography demonstrated AoC and VSD. All four children were admitted to the EU with hemodynamic compromise and critically ill status. We used femoral vein for sheath and used VSD to enter left ventricle from right antegrade route, and performed BA without any complication. AT described in this report is another alternative way for coarctation angioplasty in patients with large VSD. We suggest that AT BA can be applied to small infants in situations where surgery might have been hazardous.

QT dispersion and ventricular arrhythmias in children with primary mitral valve prolapse.

AIM: To investigate ventricular arrhythmias in children with primary mitral valve prolapse and to evaluate its relation with QT length, QT dispersion, autonomic function tests and heart rate variability measurements. MATERIAL AND METHODS: Fourty two children with mitral valve prolapse and 32 healthy children were enrolled into the study. Twelve-lead electrocardiograms, autonomic function tests, echocardiography and 24-hour rhythm Holter tests were performed. Electrocardiograms were magnified digitally. The QT length was corrected according to heart rate. The patients were grouped according to the number of premature ventricular contractions and presence of complex ventricular arhythmia in the 24-hour rhythm Holter monitor test. Heart rate variability measurements were calculated automatically from the 24-hour rhythm Holter monitor test. Orthostatic hypotension and resting heart rate were used as autonomic function tests. RESULTS: The mean age was 13.9±3.3 years in the patient group and 14.6±3.1 years in the control group (p>0.05). Thirty four of the patients (81%) were female and eight (19%) were male. Twenty five of the control subjects (78%) were female and seven (22%) were male. The QT dispersion and heart rate corrected QT interval were found to be significantly increased in the children with primary mitral valve prolapse when compared with the control group (56±16 ms vs. 43±11 ms, p=0.001; 426±25 ms vs. 407±26 ms, p=0.002, respectively). In 24-hour rhythm Holter monitor tests, ventricular arrhythmias were found in 21 out of 42 patients (50%) and 6 out of 32 control subjects (18.8%) (p=0.006). QT dispersion was found to be significantly increased in patients with premature ventricular contractions ≥ 10/day and/or complex ventricular arrhythmias compared to the control group without ventricular premature beats (p=0.002). There was no significant difference in autonomic function tests and heart rate variability measurements between the patient and control groups. CONCLUSIONS: The noted increase in QT dispersion may be a useful indicator for the clinician in the evaluation of impending ventricular arrhythmias in children with primary mitral valve prolapse.

Evaluation of vaginal agenesis treated with the modified McIndoe technique: A retrospective study.

OBJECTIVE: Retrospective analysis of cases that have undergone neovagina operation because of congenital vaginal agenesis was objected. MATERIAL AND METHODS: Seven cases applying with the complaints of primary amenorrhea or inability to have sexual intercourse were in the study. The cases were diagnosed with congenital vaginal agenesis and operated at Mustafa Kemal University Training and Research Hospital between 2011 and 2014. Vaginoplasty by the modified McIndoe method was performed in all cases. The main complaint, chromosomal analysis, duration of operation, preoperative and postoperative vaginal length, complications, postoperative treatment, and satisfaction from the sexual intercourse were all evaluated. RESULTS: Average age of our patients was 28.14±8.61 (19-39) years. One patient was 46XX-45X0 mosaic Turner syndrome), 1 patient was 46XY (testicular feminization), and other 5 patients were 46XX. The average duration of operation was 2.7±0.56 (2-3.5 h). Postoperative infection was observed in 1 patient. In this infected patient, graft failure occurred and debridement was performed in reoperation. No early complications were seen in the others. Preoperative and postoperative average vaginal lengths were 1.85±0.62 (1-3 cm) and 8.71±1.11 (7-10 cm), respectively. Dyspareunia occurred in 2 cases that were not able to use dilatator regularly: 1 because of cancelation of marriage and the other because of postoperative infection; regular sexual life was achieved in remaining 5 (71%) cases. CONCLUSION: Although there is no consensus about the ideal method of making a functioning vagina among different specialties. The modified McIndoe technique is the most applied method by gynecologists and simple, minimally invasive and with low morbidity.

Update on diagnosis of acute rheumatic fever: 2015 Jones criteria.

In the final Jones criteria, different diagnostic criteria were established for the diagnosis of acute rheumatic fever for low risk and moderate-high risk populations. Turkey was found to be compatible with moderate-high risk populations as a result of regional screenings performed in terms of acute rheumatic fever and rheumatic heart disease. The changes in the diagnostic criteria for low-risk populations include subclinical carditis found on echocardiogram as a major criterion in addition to carditis found clinically and a body temperature of 38.5°C and above as a minor criterion. In moderate-high risk populations including Turkey, subclinical carditis found on echocardiogram in addition to clinical carditis is used as a major criterion as a new amendment. In addition, aseptic monoarthritis and polyarthralgia are used as major criteria in addition to migratory arthritis and monoarhtralgia is used as a minor criterion among joint findings. However, differentiation of subclinical carditis from physiological valve regurgitation found in healthy individuals and exclusion of other diseases involving joints when aseptic monoarthritis and polyarthralgia are used as major criteria are very important. In addition, a body temperature of 38°C and above and an erythrocyte sedimentation rate of 30 mm/h and above have been accepted as minor criteria. The diagnostic criteria for the first attack have not been changed; three minor findings have been accepted in presence of previous sterptococcal infection in addition to the old cirteria for recurrent attacks. In the final Jones criteria, it has been recommended that patients who do not fully meet the diagnostic criteria of acute rheumatic fever should be treated as acute rheumatic fever if another diagnosis is not considered and should be followed up with benzathine penicilin prophylaxis for 12 months. It has been decided that these patients be evaluated 12 months later and a decision for continuation or discontinuation of prophylaxis should be made. In countries where the disease is prevalent, it is very important for physicians to make an accurate diagnosis of acute rheumatic fever with their own logic and assessment in addition to the criteria proposed.

Cardiovascular alterations do exist in children with stage-2 chronic kidney disease.

BACKGROUND: Cardiovascular disease (CVD) is an important complication of chronic kidney disease (CKD) in children. However, it is not well known when and how cardiovascular alterations start. METHODS: This cross-sectional, controlled study consisted of 25 patients and 28 healthy controls. 24-h ambulatory blood pressure monitoring, aortic pulse wave velocity (aPWV), carotid intima-media thickness (cIMT) and carotid distensibility (distensibility coefficient and ß stiffness index), and echocardiography were assessed to evaluate CVD. Routine biochemical parameters, fibroblast growth factor-23 (FGF23) and high sensitive C- reactive protein were measured to determine cardiovascular risk factors. RESULTS: Hypertension was found in 12 patients (48 %). Patients had higher FGF23 levels and aPWV-standard deviation score (SDS) as compared to the controls (p = 0.003 and p = 0.002, respectively). Aortic PWV-SDS was predicted by increased daytime systolic blood pressure load (ß = 0.512, p = 0.009, R 2 = 0.262). Neither cIMT nor distensibility differed between the groups; however, older age and high level of FGF23 were independent predictors of ß stiffness index in patients (ß = 0.507, p = 0.005, R 2 = 0.461 and ß = 0.502, p = 0.005, R 2 = 0.461, respectively). As compared to controls, patients had worse left ventricular diastolic function [lower E/A ratio p = 0.006) and increased left atrial dimension (p < 0.001)]. CONCLUSIONS: Cardiovascular deteriorations appear in children with stage-2 CKD. Good control of BP and decreasing the level of FGF23 may be useful to slow down the progression of cardiovascular complications.

Evaluation of posterior reversible encephalopathy syndrome from different aspects: What is the role of serum LDH and albumin level in pathogenesis?

Background: Posterior reversible encephalopathy syndrome (PRES), is characterized by headache, lethargy, visual complaints and epileptic seizures. Brain imaging findings include abnormalities of the white matter and the grey matter.The diagnosis currently relies on clinical manifestations and typical neuroimaging findings. Different pathophysiological factors can play role in the disease process. The purpose of this study is to review causes, clinical aspects, imaging-laboratory findings and prognosis in patients diagnosed with PRES. Method: Patients who showed clinical and magnetic resonance imaging (MRI) findings consistent with PRES between January 2011 and December 2014 were included in the study. Patient data were collected retrospectively from hospital records. Results:Total number of patients was 22 (18 female, 4 male). Median age was 28 years (range 18-84). Comorbid conditions included eclampsia (n=10, 45%), pre-eclampsia (n=1, 4.5%), HELLP (hemolysis, elevated liver enzymes, low platelet count) syndrome (n=1), primary kidney disease (n=3, 13%). Acute elevation of blood pressure was found in 9 patients (40%). Five patients (22%) were using steroids or immunosupressive drugs. Typical PRES imaging pattern with bilateral parieto-occipital involvement was present in 15/22 patients (68%) and occipital involvement was present in 3/22 patients (14%). Atypical neuroimaging features included frontal involvement in 10 patients (45%), basal ganglia gray matter lesion in 1 patient (4%) and the cerebellum was involved in 3 patients (14%). Serum LDH level was high in 13 patients (59%). Hypoalbuminemia was detected in 12 patients (54%). Conclusion: Although hypertension is thoughtto be the main pathologic factor in the disease process, endothelial dysfunction seems to be equally important.

Can the ductus venosus doppler predict the hemoglobinopathies?

OBJECTIVE: The aim of our study was to investigate the ductus venosus doppler between 11-13+6 (week-day) in pregnant women with hemoglobinopaties and its relation with fetal outcomes. MATERIAL AND METHODS: A total of 100 pregnant women with hemoglobinopathies and 100 healthy pregnant women were included in our study. Ultrasonography (USG) was performed to all pregnant women and the ductus venosus doppler (DVD) flows were evaluated. The results were statistically analyzed. RESULTS: The mean hemoglobin level was significantly lower in hemoglobinopathy group (9.7 ± 0.7) than control group (10.67 ± 0.82) (P<0.001). There was a significant relationship between Vmax, Vmin, S/D and reverse 'a' wave in fetuses with hemoglobinopathies. Vmax, Vmin and S/D parameters were higher in the group of hemoglobinopathies (respectively mean value, 31.3 ± 1.66, 8.90 ± 0.81, 2.97 ± 0.49). Reverse 'a' wave was detected especially in all fetuses with sickle cell anemia. There was no significantly relationship between the groups in terms of PI, RI and HR. In a logistic regression analyses, fetal hemoglobinopathy was independently associated with Vmin (ß = 1.07, P = 0.001), S/D (ß = 2.61, P = 0.001) and reverse 'a' wave (ß = 2.46, P = 0.004). CONCLUSION: Pregnant women with hemoglobinopathies had changed ductus venosus doppler values in compared to normal pregnant women. Maternal anemia may cause this doppler changes. Furthermore all fetuses with sickle cell anemia (n = 5) had abnormal ductus venosus doppler findings. Further studies are needed to investigate the relationship between abnormal ductus venosus doppler findings and fetuses diagnosed with sickle cell anemia.