Assessment of ventricular septal defects by real-time three-dimensional echocardiography and comparison with surgical measurements

Peer reviewe

Single-knot running suture anastomosis (one-knot pyeloplasty) for laparoscopic dismembered pyeloplasty: training model on a porcine bladder and clinical results

Objectives The one-knot running ureteropelvic anastomosis is a modification of the single-knot running suture that was previously described for urethrovesical anastomosis. In this study, we present a novel porcine model for laparoscopic pyeloplasty training and report the results obtained in patients who underwent one-knot pyeloplasty

Revisiting subclavian flap repair for neonates and small infants.

Objective: We have utilized subclavian flap angioplasty (SFA) frequently in infants with coarctation particularly in patients with arch hypoplasia which is quite frequent. We have followed these patients with serial echocardiography and have analyzed our results in this study to determine recoartation rates, recurrent hypertension and left arm development

Efficacy and safety of canakinumab in adolescents and adults with colchicine-resistant familial Mediterranean fever

Introduction: This open-label pilot study aimed to investigate the efficacy of canakinumab in colchicine-resistant familial Mediterranean fever (FMF) patients

The effects of transurethral resection of the prostate on morbidity and mortality in patients with nondialysis-requiring renal insufficiency

Objectives: To compare the prevalence of preoperative co-morbid factors and complications of transurethral resection of prostate (TUR-P) in patients with normal and non-dialysis requiring elevated serum creatinine levels

Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency

Deficiency of adenosine deaminase type 2 (DADA2) is a rare form of autoinflammatory disorder with limited reported cases. In this paper, we have presented the clinico-immunological, radiological and genetic characteristics of five surviving and three deceased childhood-onset DADA2 patients. We aimed to compare surviving and deceased patients in terms of clinical features and treatment modalities. Moreover, we have evaluated the causes of death in our DADA2 subjects together with the previously reported cases. Demographic features, clinical characteristics, imaging findings, mutations and pharmacological treatments of DADA2 subjects were noted from patient records of pediatric and adult rheumatology clinics in a retrospective and longitudinal nature. Eight patients from seven families were enrolled. While five of them were surviving, three of them had died due to various reasons. Median age of the patients at disease onset and diagnosis was 7 years (range 0.5-13 years) and 14 years (range 5-27 years), respectively. The main clinical manifestations were cutaneous findings (7/8), recurrent low-grade fever (6/8), neurological involvement (6/8) and gastrointestinal involvement (5/8). All patients had increased acute phase reactants at presentation and also during the disease flares. Until the diagnosis of DADA2 was confirmed, five patients have been followed-up with the diagnosis of PAN: two patients both with PAN and FMF, and one patient with CAPS and vasculitis. Demographic, clinical, neurological features and genetic mutations did not differ in surviving and deceased DADA2 patients. Deceased and surviving subjects differed in terms of treatment modalities after the diagnosis of DADA2. Anti-TNF alpha treatment has been initiated in five surviving patients as soon as the diagnosis of DADA2 was established. However, three patients who have died were not able to use sufficient doses of anti-TNF alpha treatment; in one case due to reluctance of patient and in two cases due to establishment of the definite diagnosis by genetic analysis at the same time with the last fatal DADA2 episode. Despite limited number of patients, this case series for the first time compares the phenotypic, genotypic and medication differences between surviving and deceased DADA2 patients. Anti-TNF alpha treatment seems to be efficient and lifesaving in DADA2 patients

Coronary artery bypass graft in a 10-year-old child with familial hypercholesterolemia

Homozygous familial hypercholesterolemia (HoFH) is a result of a defect in low-density lipoprotein (LDL) receptor gene located on the short arm of chromosome 19 which leads to inadequate clearance of lipoproteins from blood circulation. Homozygous and heterozygous types are available. In homozygous types coronary lesions emerge due to early atherosclerosis in the first decade of life, and untreated patients are lost generally when they are 20 years of age. Our patient was admitted to our outpatient clinic with the complaint of exertional chest pain six months after diagnosis of familial hypercholesterolemia. Coronary angiography was performed because of the patological exercise stress test. Significant coronary artery stenosis was detected. Then the patient successfully underwent coronary bypass grafting. This case is presented to highlight that coronary lesions may develop at an early disease stage of the patients with hyperlipidemia