Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.

Limb-girdle muscular dystrophy (LGMD) type 2A (calpainopathy) is an autosomal recessive disease caused by mutation in the gene. The aim of this study was to examine genetic and phenotypic features of Serbian patients with calpainopathy. The study comprised 19 patients with genetically confirmed calpainopathy diagnosed at the Neurology Clinic, Clinical Center of Serbia and the Clinic for Neurology and Psychiatry for Children and Youth in Belgrade, Serbia during a ten-year period.

Magnetic resonance imaging of leg muscles in patients with myotonic dystrophies.

Magnetic resonance imaging (MRI) of muscles has recently become a significant diagnostic procedure in neuromuscular disorders. There is a lack of muscle MRI studies in patients with myotonic dystrophy type 1 (DM1), especially type 2 (DM2). To analyze fatty infiltration of leg muscles, using 3.

Brugada syndrome: A general cardiologist's perspective.

Brugada syndrome (BrS) is one of the commonest inherited primary arrhythmia syndromes typically presenting with arrhythmic syncope or sudden cardiac death (SCD) due to polymorphic ventricular tachycardia and ventricular fibrillation precipitated by vagotonia or fever in apparently healthy adults, less frequently in children. The prevalence of the syndrome (0.01%-0.

Analysis of the Variability of Epstein-Barr Virus Genes in Infectious Mononucleosis: Investigation of the Potential Correlation with Biochemical Parameters of Hepatic Involvement.

Background: Primary Epstein-Barr virus (EBV) infection is usually asymptomatic, although at times it results in the benign lymphoproliferative disease, infectious mononucleosis (IM), during which almost half of patients develop hepatitis. The aims of the present study are to evaluate polymorphisms of EBV genes circulating in IM isolates from this geographic region and to investigate the correlation of viral sequence patterns with the available IM biochemical parameters.

Methods: The study included plasma samples from 128 IM patients.

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.

Variants in the TTN gene have been associated with distal myopathies and other distinctive phenotypes involving skeletal and cardiac muscle. Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.

Multiple Major and Minor Anomalies Associated With Klippel-Feil Syndrome: A Case Report.

Klippel-Feil syndrome is defined as congenital fusion of two or more cervical vertebrae. In this article, we report a 55-year-old male patient with one-year history of neck pain, headaches, and one episode of syncope after a severe trauma. X-rays and magnetic resonance imaging of cervical spine revealed fused vertebral bodies of C2-C5.

Endometrioid adenocarcinoma of the ovary: MRI findings with emphasis on diffusion-weighted imaging for the differentiation of ovarian tumors.

Background: Preoperative differentiation of ovarian malignant tumors still remains a challenge. Diffusion-weighted imaging (DWI) provides information about cellularity of the lesion and might facilitate discrimination between different malignant ovarian lesions.

Purpose: To evaluate magnetic resonance imaging (MRI) findings of endometrioid adenocarcinoma of the ovary and to determine the value of DWI in the differential diagnosis of malignant and benign adnexal tumors.

Oncological and functional outcome after surgical treatment of early glottic carcinoma without anterior commissure involvement.

Introduction: Glottic carcinoma can be successfully diagnosed in its early stages and treated with high percentage of success. Organ preservation and optimal functional outcomes could be achieved with wide array of surgical techniques for early glottic cancer, including endoscopic approaches or open laryngeal preserving procedures, making surgery the preferred method of treatment of early glottic carcinoma in the last few years.

Material And Methods: Prospective study was done on 59 patients treated for Tis and T1a glottic carcinoma over a one-year time period in a tertiary medical center.

MRI in evaluation of neoplastic invasion into preepiglottic and paraglottic space.

Objective: The purpose of this study was to evaluate whether magnetic resonance (MR) imaging can accurately predict invasion of the preepiglottic and paraglottic space in patients with laryngeal carcinoma. Identification of these fat filling spaces is important for surgical treatment and prognosis.

Materials And Methods: The study was based on the prospective analysis of MRI images in a series of 40 patients (90% males), overall average age 60.

Clinical outcome of early glottic carcinoma in Serbia.

Objective: Proposed methods for treating early glottic carcinoma are cordectomy through laryngofissure, laser cordectomy, and radiotherapy. The aim of the study was to conduct comprehensive study to evaluate oncological and functional results of different treatment modalities for Tis and T1 glottic carcinoma, identify prognostic factors for the outcome of treatment and decide where we stand in applying worldwide standards of early glottic carcinoma treatment.

Methods: Prospective study was conducted on 221 patients treated with Tis and T1 glottic carcinoma from 1998 to 2003 (72 patients were treated endoscopically with CO2 laser, 75 patients with cordectomy through laryngofissure and 74 with radiotherapy), with follow-up period from 38 to 107 months.

Magnetic resonance imaging features of multiple duodenal lipomas: a rare cause of intestinal obstruction.

A 65-year-old man was evaluated because of vomiting and epigastric pain. The patient underwent upper gastrointestinal endoscopy and endoscopic ultrasound examination and was found to have multiple polypoid lesions in the D1 and D2 portions of the duodenum, causing almost complete obstruction of the duodenal lumen. The lesions were hyperintense on T1-weighted and intermediately intense on T2-weighted images, with a drop in signal on T1- and T2-weighted fat-suppressed images, consistent with a diagnosis of duodenal lipomas.

Integrative role of MRI in the evaluation of primary biliary cirrhosis.

Objectives: To evaluate magnetic resonance imaging (MRI) findings in patients with primary biliary cirrhosis (PBC) and to determine the value of diffusion-weighted imaging (DWI) in the assessment of liver fibrosis.

Materials And Methods: The following MRI findings were reviewed in 44 patients: periportal T2-weighted hyperintensity, periportal halo sign (T1- and T2-weighted periportal hypointensity), lymphadenopathy, signs of portal hypertension and morphological liver changes. Apparent diffusion coefficient (ADC) was calculated for six locations in the liver for b = 800 s/mm(2).

Diagnosis of mesh infection after abdominal wall hernia surgery - role of radionuclide methods.

Background/aims: The aim of this investigation was to evaluate the role of detection of late mesh infection following incisional hernia repair with radiolabeled antigranulocyte antibodies.

Methodology: Mesh infection diagnoses were set up with clinical examination and laboratory analysis and confirmed by ultrasonography (US), computerized tomography (CT), scintigraphy with 99mTc-antigranulocyte antibodies and microbiological examination.

Results: Of the 17 patients investigated, 6 had a late mesh infection, and 11 had both mesh infection and recurrent incisional hernia.

Diagnostic significance of magnetic resonance imaging in preoperative evaluation of patients with laryngeal tumors.

To evaluate the diagnostic accuracy of pretreatment surgical magnetic resonance images (MRI) in the assessment of patients with laryngeal tumors. The prospective study included 34 patients (mean age 62.2 ± 5.