A Patient with Multiple System Atrophy-Parkinsonian Type Presenting with Progressive Micrographia.

Herein, we present the case of a 57-year-old male patient who was admitted to our center due to progressive writing difficulty and slowness of his right hand over the last 3 years. In conclusion of the clinical and laboratory workup, a diagnosis of multiple system atrophy (MSA) was established. Our report on progressive micrographia (PM) constitutes a crucial sample remarking on this intriguing manifestation in another disease subtype of MSA, which differs from Parkinson's disease in terms of the clinical and pathophysiological processes. We think that further studies are warranted to clarify the significance of this entity in movement disorder in clinical practice and to reveal the underlying neural mechanisms.

Auditory phoneme discrimination, articulation, and language disorders in patients with genetic epilepsy with febrile seizures plus: A case-control study.

INTRODUCTION: Genetic epilepsy with febrile seizures plus (GEFS+) is an epilepsy syndrome with clinical heterogeneity that was first described in 1997. Central auditory processing (CAP) is defined as the neurophysiological process in decoding sound waves from the outer ear to the auditory cortex. The present study aimed to analyze CAP and phonological disorders in preschool-age children with GEFS+. MATERIAL AND METHOD: This is a prospective case-control study. Twenty-seven patients diagnosed with GEFS+ aged between 4 years and 6 years and 6 months and 31 healthy controls in the same age range were included in the study. Phonological sensitivity test (SAT) and auditory discrimination test (IAT) were applied to both groups, and the results of both groups were statistically compared. RESULTS: The SAT and IAT raw and Z scores of the subjects in the study group were found to be significantly higher than those of the control group (p = 0.001; p < 0.01). Electroencephalography (EEG) status of the patients or the duration of antiseizure medication use did not have a statistically significant effect on the outcome. CONCLUSION: Patients with GEFS+ have a significantly high impairment in both articulation and auditory discrimination of phonemes compared with the healthy population. Early diagnosis and early treatment of this condition can prevent potential literacy problems and the development of dyslexia in the future.

Comparison of forecast accuracy of Ata and exponential smoothing.

Forecasting is a crucial step in almost all scientific research and is essential in many areas of industrial, commercial, clinical and economic activity. There are many forecasting methods in the literature; but exponential smoothing stands out due to its simplicity and accuracy. Despite the facts that exponential smoothing is widely used and has been in the literature for a long time, it suffers from some problems that potentially affect the model's forecast accuracy. An alternative forecasting framework, called Ata, was recently proposed to overcome these problems and to provide improved forecasts. In this study, the forecast accuracy of Ata and exponential smoothing will be compared among data sets with no or linear trend. The results of this study are obtained using simulated data sets with different sample sizes, variances. Forecast errors are compared within both short and long term forecasting horizons. The results show that the proposed approach outperforms exponential smoothing for both types of time series data when forecasting the near and distant future. The methods are implemented on the U.S. annualized monthly interest rates for services data and their forecasting performance are also compared for this data set.

The evaluation of human tenon's fibroblasts and endothelial cell responses to antifibrotics alone and in combination with α-tocopherol.

PURPOSE: We aimed to evaluate the influence of current antifibrotic agents as well as the possible results obtained by combining these agents. This study included α-tocopherol, a strong antifibrotic and an efficient neuromediator of pathways used by other agents. MATERIALS AND METHODS: Mitochondrial Bcl-2, Bax, cytochrome c and cytoplasmic caspase-3 expression, as well as toxic effect patterns, mitosis and cellular reactions due to α-tocopherol alone or combined with paclitaxel, mitomycin C and 5-flurouracil (5-FU), was studied in series obtained from human endothelial and primary Tenon's fibroblast cell cultures. RESULTS: The strongest apoptotic effect in both cell groups belonged to paclitaxel, followed by mitomycin C, and despite the overall suppressive effect of the α-tocopherol combination, mitomycin C increased its efficiency on the endothelial cells. The apoptosis/necrosis ratio was highest in α-tocopherol and lowest in paclitaxel, with α-tocopherol generally decreasing necrosis. Bax was observed at a high level with mitomycin C. Cytotoxicity was the highest with paclitaxel, and the caspase-3 reaction was markedly higher with mitomycin C in both cell types. In the α-tocopherol and 5-FU slides, mitosis and a layered formation were observed. The addition of α-tocopherol reduced the cytotoxicity of all antifibrotic agents in both cell series by decreasing the cell numbers, leading to necrosis. CONCLUSIONS: Alone or in combination, the use of α-tocopherol and 5-FU is safer than other agents. By suppressing the cytotoxic effects of other antifibrotic agents, α-tocopherol is a promising drug for improving the effects of antifibrotics in many aspects of medicine. In addition, it has the potential to play a role beyond its antioxidant and antifibrotic activity in ocular surgery.

Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever.

Primary ciliary dyskinesia (PCD) is a rare disease, predominantly inherited as an autosomal recessive, with ciliary dysfunction leading to impaired mucociliary clearance, chronic airway infection and inflammation. Situs inversus totalis occurs in ~50 % of PCD patients and it is known as Kartagener syndome. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis, or erysipelas-like skin disease. FMF is caused by mutations in the MEFV gene which is located on chromosome 16p13.3. p.M680I, p.M694 V, p.M694I, p.V726A on exon 10 and p.E148Q on exon 2 are the most common mutations among FMF patients and these constitute 85 % of all. Homozygosity of R202Q polymorphism is strongly associated with FMF. We would like to present a case of Kartagener syndrome accompanied by FMF with R202Q polymorphism. Our case is the first in the literature indicating the accidental coexistence of FMF and Kartagener syndrome.