A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case.

We evaluate the clinical findings and the treatment response of a late-diagnosed case with a novel homozygous insertion c.13_14insG (p.P6Afs*202) result in a frameshift mutation in MLYCD gene.

The effects of iloprost and alprostadil on ischemia-reperfusion injury in preventing inflammation, tissue degeneration, and apoptosis in rat skeletal muscle.

Background/aim: The protective effects of prostaglandin (PG) analogs on ischemia-reperfusion (I/R) have been well documented; however, comparative studies are lacking. The aim of the present study was to determine whether iloprost or alprostadil is more effective in preventing muscle I/R injury.

Materials And Methods: Thirty-two rats were divided into four groups (n = 8): sham, control, IL (I/R + iloprost), and AL (I/R + alprostadil).

Evaluation of inner retinal layers with optic coherence tomography in vigabatrin-exposed patients.

In order to reveal the underlying retinal pathology leading to dysfunction in vigabatrin-exposed patients, we aimed to evaluate the inner retinal layers encompassing ganglion cell complex (GCC) layer and inner plexiform layer with new generation optic coherence tomography (OCT). Fourteen patients with epilepsy and exposure to vigabatrin and 12 clinically normal individuals, constituting the control group, were included. Retinal images were obtained using spectral-domain OCT (Optovue RTVue Fourier domain).

Leptospirosis in a child with acute respiratory distress syndrome.

Yeşilbaş O, Şevketoğlu E, Kıhtır HS, Hatipoğlu N, Yıldırım HM, Akyol MB, Aktay-Ayaz N, Gökçe İ. Leptospirosis in a child with acute respiratory distress syndrome. Turk J Pediatr 2017; 59: 688-692.

Hemolytic uremic syndrome with multiple organ involvement secondary to complement factor H p.Arg1215X mutation.

Complement mediated hemolytic uremic syndrome which is caused by excessive activation of the alternative complement system is a thrombotic microangiopathy. The disease frequently occurs as a result of mutations in the genes that regulates complement proteins. Complement factor H gene has the most common mutations.

Carotid Artery Aneurysm: A Rare Cause of Hemotympanum.

Temporal bone fractures can occur as a result of various head trauma. The most common cause of the hemotympanum is traumatic temporal bone fracture. Facial paralysis and hearing loss can be seen associated with temporal bone fracture.

MRI findings and cognitive functions in a small cohort of myotonic dystrophy type 1: Retrospective analyses.

Myotonic dystrophy type 1 (DM1) is a progressive multisystemic disease with common cognitive deficits and potential brain involvement in addition to the cardinal muscular and systemic symptoms. Impaired mental function associated with nonspecific pathological findings such as white-matter hyperintense lesions (WMHLs), ventricular enlargement and brain atrophy on brain MRI have been previously reported in DM1 patients. While some studies showed correlation of brain morphological changes with neuropsychological and clinical parameters including CTG repeat sizes and disease severity scales in DM1, others failed.

Pediatric Fulminant Leptospirosis Complicated by Pericardial Tamponade, Macrophage Activation Syndrome and Sclerosing Cholangitis.

Background: Leptospirosis is a zoonotic infectious disease caused by pathogenic spirochetes of the genus Leptospira. Although it is usually asymptomatic and self-limited, severe potentially fatal illness accompanied by multi-organ failure may occur.

Case Report: Here we report an unusual case of severe leptospirosis successfully treated with continuous venovenous hemofiltration (CVVHF) and therapeutic plasma exchange (TPE).

The outcome and parents-based cosmetic satisfaction following fixation of paediatric supracondylar humerus fractures treated by closed method with or without small medial incision.

Supracondylar humerus fractures are common in children. Displaced fractures are usually treated with closed reduction and cross pin fixation. But, medial pinning may cause the ulnar nerve injury.

The evaluation of the angles of Eustachian tubes in the patients with chronic otitis media on the temporal computerized tomography.

Introduction: Chronic otitis media (COM), affecting all over the world and in a wide range of age groups in Turkey, is an important cause of ear discharge and hearing loss. The main clinical manifestations are tympanic membrane perforation, ear, nose and throat problems. On the tympanic membrane perforation becomes persistent and cholesteatoma development, there are a lot of opinions today.

The measurement of tibial torsion by magnetic resonance imaging in children: the comparison of three different methods.

Background: There is no consensus about the measurement techniques to determine the tibial torsion by using MRI. The primary research question of this study was to find out which MRI-based tibial torsion measurement method is more reliable and reproducible. Secondly, we compared tibial torsion values measured by three measurement methods in T1- and T2-weighted images.

Acute severe organophosphate poisoning in a child who was successfully treated with therapeutic plasma exchange, high-volume hemodiafiltration, and lipid infusion.

Acute severe organophosphate poisoning is a serious complication seen in developing and agricultural countries. Pralidoxime and high dose atropine are the standard treatments. There is no consensus about acute severe organophosphate poisonings that are unresponsive to pralidoxime, atropine, and supportive therapies.

Calculation of the mastoid cell volume of infants from computed tomography imaging.

Objective: The objective of this study was to calculate the mastoid cell volume of infants using computed tomography imaging.

Methods: We calculated the mastoid cell volumes of 87 infants younger than 1 year classified into 4 age groups.

Results: There were significant (P = 0.

Is quantitative diffusion-weighted MRI a valuable technique for the detection of changes in kidneys after extracorporeal shock wave lithotripsy?

Objective: The aim of this study was to evaluate the capability and the reliability of diffusion-weighted imaging (DWI) in the changes of kidneys occurring after extracorporeal shock wave lithotripsy (ESWL) treatment for renal stones.

Materials And Methods: A total of 32 patients who underwent ESWL treatment for renal stone disease between June and December 2011 were enrolled in this prospective study. Color Doppler ultrasonography (CDUS) and DWI were performed before and within 24 hours after ESWL.

The Trends in Utilizing Nonvitamin K Antagonist Oral Anticoagulants in Patients With Nonvalvular Atrial Fibrillation: A Real-Life Experience.

Dabigatran and rivaroxaban are novel nonvitamin K antagonist oral anticoagulants (NOACs) approved for thromboprophylaxis in atrial fibrillation (AF). In Turkey, like other countries, the efficacy of translation of the clinical trial results and current guideline recommendations into daily clinical practice is yet to be discovered. Using data from medical records of three tertiary care cardiology centers, we identified patients with nonvalvular AF on dabigatran or rivaroxaban treatment.

The prevalance of and factors associated with intra-abdominal hypertension on admission day in critically ill pediatric patients: A multicenter study.

Purpose: To investigate admission prevalence of intraabdominal hypertension (IAH) and to determine clinical and laboratory characteristics on admission day associated with IAH in critically ill pediatric patients.

Materials And Methods: One hundred thirty newly admitted critically ill pediatric patients were included. Intra-abdominal pressure (IAP) was measured 4 times (every 6 hours) with the bladder pressure method.

Bisphosphonate-induced bilateral acute renal cortical necrosis.

Renal cortical necrosis (RCN), a rare cause of renal failure in which there is death of the renal cortex but sparing of the medulla, is a catastrophic entity with high mortality. Its incidence and severity are higher in developing countries, mostly due to pregnancy-related complications. This paper presents the case of a 65-year-old woman who had bilateral renal cortical necrosis caused by bisphosphonate medication that was diagnosed by CT scan during the acute initial phase of the disease.

Evaluation of diffusion-weighted MR imaging in the diagnosis of mild acute pancreatitis.

The goal of our study was to determine the diagnostic value of diffusion-weighted magnetic resonance imaging in the identification of acute mild pancreatitis with low Ranson scores. The study group included 22 healthy subjects and 40 patients with mild acute pancreatitis. Patients with Ranson scores of 1-3 were included in the present study.

Value of heart-type fatty acid-binding protein (H-FABP) for emergency department patients with suspected acute coronary syndrome.

Objective: The aim of this study is testing the value of H-FABP in the early diagnosis of ACS alone or with routinely used biomarkers such as myoglobin, CK-MB, and cTn I in patients who admitted to emergency department (ED) with complaint of chest pain and suspected acute coronary syndrome.

Material And Methods: This prospective and cross-sectional study was performed at the Emergency Department of University hospital between June 2009 and September 2010. Patients who were admitted with chest pain within first 48 hours and suspected ACS were enrolled to the study.

Efficiency and cost analysis of cell saver auto transfusion system in total knee arthroplasty.

Background: Blood loss and replacement is still a controversial issue in major orthopaedic surgery. Allogenic blood transfusion may cause legal problems and concerns regarding the transmission of transfusion-related diseases. Cellsaver Systems (CSS) were developed as an alternative to allogenic transfusion but CSS transfusion may cause coagulation, infection and haemodynamic instability.

Use of therapeutic plasma exchange in children with thrombocytopenia-associated multiple organ failure in the Turkish thrombocytopenia-associated multiple organ failure network.

Objective: Thrombocytopenia-associated multiple organ failure can lead to high mortality in critically ill children, possibly related to consequences of thrombotic microangiopathy. Plasma exchange therapy may improve thrombotic microangiopathy. The purpose of this observational cohort study is to describe whether there is an association between use of plasma exchange therapy and outcome in the Turkish thrombocytopenia-associated multiple organ failure network.