Investigation of optic nerve function in Behçet's patients with optic disc hyperfluorescence in fundus fluorescein angiography.

PURPOSE: The aim was to investigate the changes in optic nerve function that may help in the diagnosis of subclinical optic nerve involvement in patients with Behçet's disease (BD) and isolated optic disc (OD) hyperfluorescence in fluorescein angiography (FA). MATERIALS AND METHODS: Three groups were formed; BD patients with isolated OD hyperfluorescence in FA, BD patients without ocular involvement (normal FA) and control group. A total of 88 eyes of 45 patients were included. The groups were compared in terms of OCT-RNFL, contrast sensitivity and VEP latency. RESULTS: When the OCT-RNFL values were compared, there was a significant difference between the control group and Behçet's patients with normal FA. Contrast sensitivity values differed significantly among the groups, and the lowest mean contrast sensitivity was observed in the group with OD hyperfluorescence (p < 0.05). CONCLUSION: As far as we know, this is the first publication that investigates optic nerve function in BD patients with isolated OD hyperfluorescence in FA. Assessment with FA of asymptomatic BD patients with visual complaints and low contrast sensitivity may be helpful at early detection of inflammatory optic neuropathy by close follow-up in patients with OD hyperfluorescence.

Increased prevalence of mild myopathic changes in the post-COVID-19 duration.

OBJECTIVE: There are reports of peripheral nerve and muscle involvement during or after coronavirus disease 2019 (COVID-19), even following a mild infection. Here, we aimed to analyze the objective findings regarding peripheral nerve, neuromuscular junction, and muscle function using electrophysiology in patients with a previous COVID-19 infection. METHODS: All consecutive patients with a history of COVID-19 were questioned for post-COVID-19 duration-related neurological complaints via Composite Autonomic Symptom Score-31 (COMPASS-31), modified Toronto Neuropathy score (mTORONTO), and Fatigue Severity Scale (FSS). Patients were dichotomized into two groups based on their scores in the questionnaire. Group 1 (patients with high scores in any area of the questionnaire) and Group 2 (patients with normal scores in all sections of the questionnaire). In the second step, Group 1 was invited to a preplanned hospital visit for electrophysiological analysis, including nerve conduction studies, repetitive nerve stimulation, needle electromyography (EMG), quantitative motor unit potential analysis (qMUP), and single fiber EMG. We included 106 patients in the study. According to the questionnaire, 38 patients constituted Group 1, and 68 formed Group 2. RESULTS: Of the 38 patients, 14 accepted and underwent preplanned electrophysiological examinations. Needle EMG revealed small, short, polyphasic MUPs with early recruitment, and qMUP analysis demonstrated an increased percentage of polyphasic potentials in three patients. The examinations in other patients were unremarkable. CONCLUSIONS: The high prevalence of complaints and objective myopathic findings in our cohort implicated the role of muscle involvement in the post-COVID-19 duration. Considering the socioeconomic and psychological burden of the post-COVID-19 duration among individuals and societies, a better understanding of the symptoms and myopathy is warranted.

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. The rates of consanguinity are 30% in fALS and 23% in sporadic ALS (sALS). Major ALS genes explained the disease cause in only 35% of fALS, as compared with ~70% in Europe and North America. Whole exome sequencing resulted in a discovery rate of 42% (53/127). Whole genome analyses in 623 sALS cases and 142 population controls, sequenced within Project MinE, revealed well-established fALS gene variants, solidifying the concept of incomplete penetrance in ALS. Genome-wide association studies (GWAS) with whole genome sequencing data did not indicate a new risk locus. Coupling GWAS with a coexpression network of disease-associated candidates, points to a significant enrichment for cell cycle- and division-related genes. Within this network, literature text-mining highlights DECR1, ATL1, HDAC2, GEMIN4, and HNRNPA3 as important genes. Finally, information on ALS-related gene variants in the Turkish cohort sequenced within Project MinE was compiled in the GeNDAL variant browser (www.gendal.org).

Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases.

The adult-onset Alexander disease (AOAD) dramatically differs from the early onset AD with respect to clinical and neuroradiological findings. Herein we report the detailed clinical and neuroradiological findings of a Turkish family with AOAD. In all three cases, magnetic resonance imaging revealed marked atrophy of the mesencephalon, bulbus, and cervical spinal cord accompanied with signal abnormalities in the same regions along with supratentorial white matter. Basal ganglia were affected in two cases. Molecular genetic analysis revealed heterozygous mutation in the 8th exon of the glial fibrillary acidic protein gene M451I (c.1245G>A), leading to the diagnosis of AOAD in all cases.

Evaluation of laryngeal findings in users of inhaled steroids.

The objective of the prospective study is to examine the laryngeal changes by laryngeal videostroboscopy and electromyography (EMG) regarding new-onset dysphonia in asthmatic patients taking inhaled corticosteroids (ICS). Laryngeal changes and electrophysiological status of the laryngeal muscles were evaluated by these methods in 12 patients both at the time of presentation of dysphonia and after cessation of therapy. Laryngeal changes of our patients were mucosal edema, erythema, thickening, adduction deficit, nodule and irregularity in videostroboscopy. Significant correlations were found between laryngeal pathology and dosage and duration of ICS therapy. We detected myopathy by EMG in most of the patients. Also, EMG revealed that cricothyroid muscle was much more affected than thyroarytenoid muscle. In conclusion, we consider that steroid myopathy or mucosal inflammatory theory alone is not sufficient to explain the etiopathogenesis of dysphonia in asthmatic patients taking ICS. The laryngeal mucosal changes were detected by laryngeal videostroboscopic examination in some asthmatic patients, with dysphonia using ICS, and/or laryngeal myopathy was found by laryngeal EMG in some of them in this study. Thus, various factors may have role simultaneously in the occurrence of dysphonia.