In vitro modulation of T cells in myasthenia gravis by low-dose IL-2.

Follicular helper (Tfh), peripheral helper (Tph), and regulatory (Treg) T cells are involved in myasthenia gravis (MG) pathogenesis, an autoimmune disorder arising from autoantibodies targeting neuromuscular junction proteins. This study explores the impact of low-dose IL-2 on Tfh, Tph, and Treg cells in vitro in MG. Acetylcholine-receptor antibody-positive MG (AChR-MG), muscle-specific kinase antibody-positive MG (MuSK-MG) patients, and healthy controls (HC) were studied.

Disease activity in chronic inflammatory demyelinating polyneuropathy: association between circulating B-cell subsets, cytokine levels, and clinical outcomes.

Chronic inflammatory demyelinating polyneuropathy (CIDP), a common and treatable autoimmune neuropathy, is frequently misdiagnosed. The aim of this study is to evaluate the relationship between immunological markers and clinical outcome measures in a mixed cohort of patients with typical CIDP and CIDP variants at different disease stages. Twenty-three typical, 16 multifocal and five distal CIDP patients were included.

Leucine-Rich Glioma-Inactivated Protein 1 Antibody-Positive Polyradiculopathy Associated with Epstein-Barr Virus Infection.

Epstein-Barr virus (EBV) has been associated with a plethora of neurological manifestations including polyneuropathy and polyradiculopathy. A 27-year-old man with a recent upper respiratory system infection presented with difficulty in walking. His neurological examination revealed reduced muscle strength in both proximal and distal lower limb muscles without sensory and autonomic signs.

The treatment effect on peripheral B cell markers in antibody positive myasthenia gravis patients.

B cells play a major role in the pathophysiology of myasthenia gravis (MG) with their ability to produce disease specific, pathogenic antibodies. However, their status during disease development and follow-up stages of the disease in the peripheral blood may need further studies to determine useful markers. In this study, we aimed to detect B cell associated factors concerning immunosuppressive treatment in generalized non-thymomatous MG patients.

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases.

CD4 T Cells of Myasthenia Gravis Patients Are Characterized by Increased IL-21, IL-4, and IL-17A Productions and Higher Presence of PD-1 and ICOS.

Myasthenia gravis (MG) is an autoimmune disease mediated by autoantibodies predominantly against the acetylcholine receptor (AChR). Specific T cell subsets are required for long-term antibody responses, and cytokines secreted mainly from CD4 T cells regulate B cell antibody production. The aim of this study was to assess the differences in the cytokine expressions of CD4 T cells in MG patients with AChR antibodies (AChR-MG) and the effect of immunosuppressive (IS) therapy on cytokine activity and to test these findings also in MG patients without detectable antibodies (SN-MG).

Relation of HLA-DRB1 to IgG4 autoantibody and cytokine production in muscle-specific tyrosine kinase myasthenia gravis (MuSK-MG).

A small subset of myasthenia gravis (MG) patients develop autoantibodies against muscle-specific kinase (MuSK), which are predominantly of the immunoglobulin (Ig)G4 isotype. MuSK-MG is strongly associated with HLA-DRB1*14, HLA-DRB1*16 and HLA-DQB1*05. In this study, the possible effects of these HLA associations on MuSK IgG autoantibody or cytokine production were investigated.

Blink Reflex in Episodic and Chronic Migraine.

Introduction: Activation of the trigeminovascular system and sensitization of brainstem trigeminal nuclei play a significant role in the physiopathology of migraine. Our aim was to investigate blink reflex (BR) and its recovery in episodic and chronic migraine patients.

Methods: Twenty-eight chronic migraine patients, thirty-two episodic migraine without aura patients and thirty healthy controls were included in the study.

A database for screening and registering late onset Pompe disease in Turkey.

The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories.

Clinical, Electrophysiological, and Serological Evaluation of Patients with Cramp-Fasciculation Syndrome.

Introduction: Cramp-fasciculation syndrome (CFS) is a rare peripheral nerve hyperexcitability syndrome. There are only a few reports on clinical and serological profile of a CFS cohort that was followed up by a single outpatient clinic.

Methods: Clinical, electrophysiological, and serological features of 6 CFS patients (5 men, 1 woman; 27-65 years old) were investigated.

The effect of interleukin (IL)-21 and CD4 CD25 T cells on cytokine production of CD4 responder T cells in patients with myasthenia gravis.

Impairment of the suppressive function of regulatory T (T ) cells has been reported in myasthenia gravis (MG). In this study, cytokine-related mechanisms that may lead to the defect of T were investigated in patients with anti-acetylcholine receptor antibody-positive MG (AChR + MG). Proliferation and cytokine production of responder T (T ) cells in response to polyclonal activation were measured in a suppression assay.

Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis.

This study aims to investigate genetic susceptibility to early-onset and late-onset anti-acetylcholine receptor antibody positive myasthenia gravis (EOMG and LOMG) and anti-muscle specific kinase antibody positive MG (MuSK-MG) at genome-wide level in a single population. Using a custom-designed array and imputing additional variants and the classical HLA alleles in 398 patients, we detected distinct associations. In EOMG, rs113519545 in the HLA class I region (OR=5.

Tarsal tunnel syndrome masked by painful diabetic polyneuropathy.

Introduction: Various causes influence the etiology of tarsal tunnel syndrome including systemic diseases with progressive neuropathy, such as diabetes.

Presentation Of Case: We describe a 52-year-old male patient with complaints of numbness, burning sensation and pain in both feet. The laboratory results showed that the patient had uncontrolled diabetes, and the EMG showed distal symmetrical sensory-motor neuropathy and nerve entrapment at the right.

Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK.

Neuromuscular transmission failure in myasthenia gravis (MG) is most commonly elicited by autoantibodies (ab) to the acetylcholine receptor or the muscle-specific kinase, constituting AChR-MG and MuSK-MG. It is controversial whether these MG subtypes arise through different T helper (Th) 1, Th2 or Th17 polarized immune reactions and how these reactions are blunted by immunosuppression. To address these questions, plasma levels of cytokines related to various Th subtypes were determined in patients with AChR-MG, MuSK-MG and healthy controls (CON).

Regulatory function of CD4+CD25++ T cells in patients with myasthenia gravis is associated with phenotypic changes and STAT5 signaling: 1,25-Dihydroxyvitamin D3 modulates the suppressor activity.

Regulatory T cells were investigated in early-onset (EO) and late-onset (LO) myasthenia gravis patients with anti-acetylcholine receptor antibody (AChR-MG). Alterations in PD-1 and PD-L1 on CD4(+)CD25(++) (Treg) and responder T cells (Tresp, CD4(+)CD25(-)) were observed in LOMG patients. GITR was decreased on CD4(+)CD25(++) of all patients.

The distinct genetic pattern of ALS in Turkey and novel mutations.

The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases. Patients were genotyped for C9orf72 (18.

Somatosensory evoked potential findings in ankylosing spondylitis.

Objective: Somatosensory evoked potential (SSEP) abnormalities were reported in patients with ankylosing spondylitis (AS). This study aimed to investigate SSEP abnormalities and its relation with clinical findings in AS patients.

Materials And Methods: The study included 26 patients with AS and 17 age-matched health volunteers (Control for SSEP).

B cells produce less IL-10, IL-6 and TNF-α in myasthenia gravis.

B cells from myasthenia gravis (MG) patients with autoantibodies (Aab) against acetylcholine receptor (AChR), muscle-specific kinase (MuSK) or with no detectable Aab were investigated as cytokine producing cells in this study. B cells were evaluated for memory phenotypes and expressions of IL-10, IL-6 and IL-12A. Induced productions of IL-10, IL-6, IL-12p40, TNF-α and LT from isolated B cells in vitro were measured by immunoassays.

Ulnar nerve compression at the wrist: diagnostic role of palmar stimulation.

Objective: Electrophysiological diagnosis of ulnar nerve entrapment at the wrist is sometimes difficult. The aim was to evaluate the diagnostic role of ulnar nerve stimulation above and below the Guyon channel in ulnar nerve entrapment at the wrist.

Methods: Supramaximal ulnar nerve stimulation at the wrist and palm, in addition to the standard nerve conduction studies, in 10 patients with ulnar nerve entrapment at the wrist and 40 controls.

The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in Turkey.

A functional single nucleotide polymorphism (SNP) of the PTPN22 gene encoding a protein tyrosine phosphatase has been associated with autoimmune disorders including myasthenia gravis (MG). As the PTPN22 R620W polymorphism has a wide variation of allele frequencies among different populations, this polymorphism was investigated in MG in Turkey. An emphasis is put on MG subgroups according to autoantibody (Abs) production and presence of thymoma.

Evaluation of cognitive characteristics of patients developing manifestations of parkinsonism secondary to long-term ephedrone use.

Aim: In this study, cognitive functions of 9 patients developing parkinsonism due to chronic manganese intoxication by intravenous methcathinone solution were investigated using detailed neuropsychometric tests.

Method: Attention deficit, verbal and nonverbal memory, visuospatial function, constructive ability, language, and executive (frontal) functions of 9 patients who were admitted to our clinic with manifestations of chronic manganese intoxication and 9 control subjects were assessed using neuropsychometric tests. Two years later, detailed repeat neuropsychometric tests were performed in the patient group.

The Relationship of Symptoms of Anxiety and Depression with Disease Severity and Treatment Modality in Myasthenia Gravis: A Cross-sectional Study.

Introduction: Findings about the relationship between psychopathology and severity of myasthenia gravis (MG) seem scarce and conflicting. The aim of this study was to investigate the relationship of depressive and anxiety symptoms with disease severity and treatment modalities among a cohort of patients with MG.

Methods: Sixty-seven patients, who presented to the neuromuscular outpatient clinic, at a neuropsychiatry hospital in Istanbul, Turkey in a two-month period, were recruited consecutively.

Association of HLA-DRB1∗14, -DRB1∗16 and -DQB1∗05 with MuSK-myasthenia gravis in patients from Turkey.

Susceptibility to myasthenia gravis (MG) has been demonstrated with several HLA in different disease subgroups. HLA-DR14, -DR16 and -DQ5 were reported as predisposing factors in muscle-specific kinase antibody positive MG (MuSK-MG). These markers were evaluated in MG subgroups from Turkey.