Association between Cytotoxic T-Lymphocyte-Associated Antigen 4 (CTLA-4) Locus and Early-Onset Anti-acetylcholine Receptor-Positive Myasthenia Gravis in Serbian Patients.

Genome-wide association studies (GWAS) have provided strong evidence that early- and late-onset MG have different genetic backgrounds. Recent in silico analysis based on GWAS results revealed rs231735 and rs231770 variants within CTLA-4 locus as possible MG causative genetic factors. We aimed to explore the association of rs231735 and rs231770 with MG in a representative cohort of Serbian patients.

Galactosylation of serum immunoglobulin G in myasthenia gravis with different autoantibodies.

Myasthenia gravis (MG) is a disease with impaired transmission at the neuromuscular junction, characterised by weakness and fatigability of skeletal muscles. In acquired autoimmune MG, antibodies against acetylcholine receptor (AChRAb) or muscle-specific tyrosine kinase (MuSKAb) are present. There is not much data about immunoglobulin G (IgG) galactosylation in MG, and none based on interactions with lectins.

Myasthenia gravis treated in the neurology intensive care unit: a 14-year single-centre experience.

Introduction: Severe myasthenia gravis (MG) exacerbation with respiratory failure and/or dysphagia usually requires monitoring and treatment in the neurology intensive care unit (NICU). The aim of our study was to identify all patients with severe MG exacerbation treated in the NICU in order to assessed potential factors affecting patients' need for mechanical ventilation, occurrence of complications and the final outcome.

Methods: We retrospectively included all patients with severe exacerbation of MG who required management in the NICU during a 14-year period.

Long-term outcome in patients with myasthenia gravis: one decade longitudinal study.

Introduction: Even treated, myasthenia gravis (MG) continues to represent a significant burden and might continuously affect patients' quality of life (QoL). The aim of our longitudinal study was to analyze QoL in a large cohort of MG patients after a 10-year follow-up period.

Methods: This study comprised 78 MG patients (60% females, 50 ± 16 years old at baseline, 70% AchR positive) who were retested after 10 years.

Risk factors for potential drug-drug interactions in patients with myasthenia gravis.

Objectives: Our aim was to determine risk factors for and frequency of potential drug-drug interactions (pDDIs) among hospitalized patients with myasthenia gravis (MG).

Methods: This was a retrospective cross-sectional study of the-first time hospitalized MG patients or patients hospitalized because of the exacerbation of MG at the Neurology Clinic of the Clinical Center of Serbia, Belgrade. Medical records and discharge summaries of hospitalized MG patients over a 10-year period were reviewed.

Prospective analysis of gait characteristics in chronic inflammatory demyelinating polyradiculoneuropathy.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a disorder that may lead to functional impairment, including gait abnormalities. Our aim was to analyze gait characteristics in patients with CIDP compared to healthy controls (HC). Moreover, we sought to determine changes of gait parameters after six-month follow-up period.

Longitudinal study of neuropathic pain in patients with Guillain-Barré syndrome.

Objective: The aim of this study was to analyze neuropathic pain (NeP) and its therapy in patients with Guillain-Barré syndrome (GBS) during a 6-month follow-up period.

Method: This longitudinal multicenter study included 69 newly diagnosed adult GBS patients. NeP diagnosis was based on the criteria of Finnerup and confirmed by the PainDETECT Questionnaire (PD-Q).

Rate of progression of Guillain-Barré syndrome is not associated with the short-term outcome of the disease.

Introduction: There are no many data on association between progression rate of Guillain-Barré syndrome (GBS) and disease outcome.

Aim: The aim of our study was to analyze short-term outcome of GBS in relation to the rate of disease progression.

Methods: Our retrospective study included patients diagnosed with GBS in seven tertiary healthcare centers from 2009 to 2014.

Disability and quality of life in Guillain-Barré syndrome - Longitudinal study.

Longitudinal health-related quality of life (QoL) data in Guillain-Barré (GBS) patients are still scarce. We, therefore, investigated health- related QoL in GBS patients from Serbia and surrounding countries during a six-month follow-up period, and analyzed its association with patients' disability. Our study comprised 74 adult patients diagnosed with GBS from May 2017 until May 2018 in seven tertiary healthcare centers.

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.

Quality of life in patients with multifocal motor neuropathy from Serbia.

Introduction And Aim: Multifocal motor neuropathy (MMN) is a rare, chronic disorder with potentially severe and progressive disability, which may affect patients' quality of life (QoL). Since there is still small number of studies that predominantly investigated QoL in patients with MMN, we sought to analyze QoL in these patients.

Materials And Methods: Our study comprised 17 patients diagnosed with MMN at the same clinic.

Frequency and features of the central poststroke pain.

Background: Central poststroke pain (CPSP) is often unrecognized in clinical practice, it may aggravate the rehabilitation process and reduce quality of life.

Aim: To determine the frequency and features of CPSP, as well as to make possible associations of CPSP with sociodemographic and clinical features of subjects with stroke.

Method: In a two-year period 602 patients with previous stroke were consecutively tested.

Quality of life in patients with MuSK positive myasthenia gravis.

It is believed that myasthenia gravis (MG) with antibodies to muscle-specific tyrosine kinase (MuSK) is the most severe form of the disease, especially in the first years of the disease. The aim of our study was to investigate quality of life (QoL) in a population of patients with MuSK MG compared to those with MG who have antibodies to acetylcholine receptor (AChR) in their sera. The study group consisted of 35 MuSK MG patients (28 females and 7 males), while the control group included 38 AChR MG patients matched for gender, age, and duration of the disease.

Survival and mortality of adult-onset myasthenia gravis in the population of Belgrade, Serbia.

Introduction: The objective of this study was to estimate mortality and survival in a large cohort of myasthenia gravis (MG) patients from Belgrade, Serbia, during the period 1979-2008.

Methods: Data for all patients with MG were collected from hospital records and the Belgrade MG Registry.

Results: Within the 30-year study period, death occurred in 107 (20%) of 562 patients with MG, with MG-related fatality below 2%.

Unraveling ALS due to mutation through the combination of brain and cervical cord MRI.

Objective: To explore structural and functional changes of the brain and cervical cord in patients with amyotrophic lateral sclerosis (ALS) due to mutation in the superoxide dismutase () gene compared with sporadic ALS.

Methods: Twenty patients with ALS, 11 with sporadic ALS, and 33 healthy controls underwent clinical evaluation and brain MRI. Cortical thickness analysis, diffusion tensor MRI of the corticospinal tracts (CST) and corpus callosum, and resting-state functional connectivity were performed.

Neuromuscular disease-specific questionnaire to assess quality of life in patients with chronic inflammatory demyelinating polyradiculoneuropathy.

To date, generic questionnaires have been used to investigate quality of life (QoL) in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients. Although these measures are very useful, they are not usually precise enough to measure all specific characteristics of the disease. Our aim was to investigate QoL using the neuromuscular disease-specific questionnaire (individualized neuromuscular quality of life, INQoL) in a large cohort of patients with CIDP.

Personality traits in patients with myotonic dystrophy type 2.

Myotonic dystrophy type 2 (DM2) is a multisystem disorder that affects many organs and systems, including the brain. The objective is to analyze personality patterns in myotonic dystrophy type 2 (DM2) compared to DM1 control group. The study comprised 27 consecutive genetically confirmed DM2 patients and control group of 44 DM1 patients.

Prospective measurement of quality of life in myotonic dystrophy type 1.

Introduction: Generic patient reported outcome measures have had varied success in tracking QoL in myotonic dystrophy type 1 (DM1).

Aim: To analyze changes of Individualized Neuromuscular Quality of Life questionnaire (INQoL) scores in clinic patients with DM1 over a 6-year period.

Method: Patients completed the INQoL at baseline and after a 6-year period through their attendance in a neurology outpatient clinic.

Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia.

Discovering novel mutations in C9orf72, FUS, ANG, and TDP-43 genes in ALS patients arises necessities for better clinical characterizations of these subjects. The aim is to determine clinical and cognitive profile of genetically positive Serbian ALS patients. 241 ALS patients were included in the study (17 familiar and 224 apparently sporadic).

Diabetes mellitus may affect short-term outcome of Guillain-Barré syndrome.

We sought to determine influence of diabetes mellitus on Guillain-Barré syndrome (GBS) course and short-term prognosis. Among the 257 GBS patients included in this retrospective study, diabetes mellitus was present in 17%. The degree of disability at admission and on discharge was assessed according to the GBS Disability Scale (mild disability = 0-3, severe disability = 4-6).

Electrophysiological findings in patients with low density lipoprotein receptor related protein 4 positive myasthenia gravis.

Background And Purpose: The aim was to determine the electrophysiological profile of our cohort of low density lipoprotein receptor related protein 4 (LRP4) positive myasthenia gravis (MG) patients.

Methods: A repetitive nerve stimulation (RNS) test and jitter analysis using a concentric needle electrode were performed in 17 LRP4 positive MG patients. The results were compared to 31 muscle-specific tyrosine kinase (MuSK) positive and 28 acetylcholine receptor (AChR) positive MG patients.

Five-year study of quality of life in myotonic dystrophy.

Background - Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults. There is a complete lack of studies that assessed quality of life (QoL) trajectory during time in DM1 cohorts. Aim - To analyze changes of QoL in patients with DM1 during a 5-year follow-up period and to assess responsiveness of the SF-36 questionnaire.

Evaluation of the adequacy of requests for electrodiagnostic examination in a tertiary referral center.

Objective: Diagnostic procedures are often overused in the attempt to substitute for the good clinical examination. The aim of this study was to evaluate the type and the accuracy of the referral diagnosis to our EMG lab, as well as the impact of electrodiagnostic (EDX) examination on the diagnosis of our patients.

Methods: In this prospective study all patients examined in the six months period in a single tertiary referral EMG lab were analyzed.

Prognostic factors and survival of ALS patients from Belgrade, Serbia.

Our aim was to assess the incidence, survival and its prognostic factors in ALS patients from the area of the City of Belgrade, Serbia. A retrospective analysis included 325 probable or definite ALS cases from all five Belgrade neurology departments in the period 1992-2009. Each patient was regularly followed up during the disease until death or until 31 December 2009.