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Background Vascular rings may cause pressure on the trachea and/or esophagus of varying degree, resulting in symptoms. This study assessed the presentation symptoms, diagnostic methods and treatment results after surgery in children with vascular ring. Methods Symptomatic vascular ring patients undergoing surgery between January 2010 and August 2014 at Mehmet Akif Ersoy Cardiovascular Research and Training Hospital, Istanbul, were retrospectively assessed. The presentation symptoms, demographic characteristics, and diagnostic tests were evaluated. Operative data and postoperative follow up, complications and problems were also examined in detail. Results Twenty-one patients underwent surgery, 13 (63%) of whom were male. Median age was 12 months (range, 1 month-8 years). Among these patients, 62% ( n = 13) had double aortic arch, 24% ( n = 5) had right-sided aortic arch + ligamentum arteriosum, 10% ( n = 2) had left-sided aortic arch + aberrant right subclavian artery, and 4% ( n = 1) had pulmonary sling abnormality. Computed tomography ( CT) angiography was performed in 17/21 patients. All the patients were successfully operated on. In the early postoperative period, two patients had chylothorax and one had nerve paralysis of nervus laryngeus recurrens. One patient died in the early period, and two patients had ongoing stridor on follow up. Conclusions CT angiography is effective for the differential diagnosis and visualization of vascular ring abnormality. In such cases, full recovery can be assured with early diagnosis and surgery. [ABSTRACT FROM AUTHOR]

Background We evaluated the preoperative, operative and postoperative risk factors affecting early mortality in patients who underwent total correction of tetralogy of Fallot (TOF). Methods One hundred and twenty-two TOF patients who underwent reparative surgery between January 2010 and November 2013 were enrolled in the study. Results Mean patient age and weight was 2.3 ± 2.5 years and 11.3 ± 6.4 kg, respectively. Cardiac catheterization was performed in 101 patients (83%),and coronary anomalies were found in 11 patients. Mean McGoon index, pulmonary annulus z-score, main pulmonary artery z-score, left pulmonary artery z-score and right pulmonary artery z-score were 2.0 ± 0.4, -1.85 ± 1.54, -2.84 ± 2.06, 1.17 ± 1.73, and 0.74 ± 1.57, respectively. Total reparative surgery with a transannular patch was performed in 97 patients (79.6%); the rest underwent valve-sparing surgery. Median duration of postoperative mechanical ventilation, intensive care and hospital stay were 19 h, 3 days and 9 days, respectively. Extracorporeal membrane oxygenation (ECMO) was required in 10 patients in the postoperative early period. Arrhythmias occurring in the early postoperative period were junctional ectopic tachycardia (n = 13), complete atrioventricular block(n = 10; permanent epicardial pacemaker implanted in four) and ventricular tachycardia (n = 4). Nine patients died in the early postoperative period (7.3%). Parameters found to be associated with increased mortality were low preoperative oxygen saturation; high right ventricular/aortic pressure ratio immediately after surgery; presence of coronary anomaly; requirement of postoperative ECMO; and pacemaker ( P = 0.02, P = 0.04, P = 0.01, P = 0.0001, P = 0.03, respectively). Conclusions Poor preoperative oxygenation, presence of coronary anomaly, complete AV block in the early postoperative period, high RV pressure and requirement of ECMO appear to be the most significant factors that affect early mortality in the surgical treatment of TOF. Appropriate preoperative assessment, correct surgical strategies and attentive intensive care monitoring are required in order to reduce mortality. [ABSTRACT FROM AUTHOR]

Congenital generalized lipodystrophy type 4 is an extremely rare autosomal recessive disorder. We report our clinical experience on two unrelated Turkish patients with congenital generalized lipodystrophy type 4. A 13-year-old girl (patient-1) presented with generalized lipodystrophy and myopathy. Further tests revealed ventricular and supraventricular arrhythmias, gastrointestinal dysmotility, atlantoaxial instability, lumbosacral scoliosis, and metabolic abnormalities associated with insulin resistance. A 16-year-old girl (patient-2) with congenital generalized lipodystrophy type 4 was previously reported. Here, we report on her long term clinical follow-up. She received several course of anti-arrhythmic treatments for catecholaminergic polymorphic ventricular tachycardia and rapid atrial fibrillation. An implantable cardioverter defibrillator was also placed. A homozygous PTRF mutation, c.259C > T (p.Gln87*), was identified in patient-1. Congenital generalized lipodystrophy type 4 was caused by homozygous PTRF c.481-482insGTGA (p.Lys161Serfs*41) mutation in patient-2. Our data indicate that patients with congenital generalized lipodystrophy type 4 should be meticulously evaluated for cardiac, neuromuscular, gastrointestinal and skeletal diseases, as well as metabolic abnormalities associated with insulin resistance., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Aims: Williams syndrome (WS) is a microdeletion syndrome affecting cardiovascular and connective tissue as well as the endocrine and central nervous systems in 1 in 10,000 live births. This study aims to identify and evaluate cardiovascular abnormalities (CVAs) in 45 WS patients., Patients and Methods: We retrospectively reviewed a cohort of WS patients who were followed at our institution from January 1, 1990 through December 31, 2010. WS was clinically diagnosed by an experienced medical geneticist and confimed by fluorescence in situ hybridization. CVAs were assessed using electrocardiography, echocardiography or cardiac catheterization., Results: Twenty-seven patients (60%) were male; 18 were female (40%).The mean age at presentation was 4.6 +/- 3.1 years (3 months-13 years); the follow-up period was 6.9 +/- 4.4 years (6 months-18 years). CVAs were found in 86% of patients, the most common one being supravalvar aortic stenosis (SVAS) in 73% (isolated in 48%), peripheral pulmonary artery stenosis (PAS) in 42%, and mitral valve prolapse (MVP) in 22%. Less common were aortic insufficiency (15%), ventricular septal defect (11%), valvular pulmonary stenosis (11%), and aortic arch hypoplasia (8%) and coarctation (2%). Hypertension was present in 22% of patients. Surgical or catheter-based interventions were performed in 22% of cases. Two patients were lost in the postoperative period., Conclusion: CVAs were found in more than four out of five patients, the most common ones being SVAS and PAS. Although surgery was performed in more patients with SVAS than with PAS, SVAS was minimal or mild in most patients and improved in few cases.

Bacterial isolates producing Class D OXA-48 carbapenemase may be missed in routine laboratory testing, allowing them to spread undetected. The purpose of the present study was to detect bla(OXA-48) among ESBL-producing Klebsiella pneumoniae and Escherichia coli isolates collected from a university hospital, Turkey. Ninety-two ESBL-producing isolates (66 E. coli, 26 K. pneumoniae) were obtained in 2010. Antibiotic susceptibility tests were performed using the disc diffusion method and VITEK 2 system. Carbapenemase activity was screened using modified Hodge test. Beta-lactamase genes were detected by PCR and bla(OXA-48)-positive amplicons were sequenced. Genetic relatedness among K. pneumoniae isolates was investigated by pulsed-field gel-electrophoresis (PFGE). Carbapenemase activity was detected in 1 E. coli and 9 K. pneumoniae isolates and 8 of the K. pneumoniae plus the E. coli isolates were resistant to ertapenem. Three K. pneumoniae and 1 E. coli isolates were resistant to imipenem. All 10 isolates were susceptible to meropenem. bla(OXA-48) was present in all 10 isolates. Additionally, 9 isolates contained at least one beta-lactamase gene, including bla(SHV') bla(CTX-M) and bla(VEB) type. PFGE revealed different karyotypes among 9 K. pneumoniae isolates suggesting that the dissemination of bla(OXA-48) gene was not spread by a single K. pneumoniae clone. Thus OXA-48-producing isolates found in carbapenem-susceptible strains according to CLSI guidelines.