Dramatic Response to Intravenous Immunoglobulin Treatment of Epilepsia Partialis Continua: A Phenomenon Observed in Older Age

WOS: 000408861900009Rasmussen's encephalitis is characterized by treatment-resistant focal episodes and is generally observed during childhood, rarely occurring in adults. An 83-year-old man with involuntary contractions in his left arm and leg was brought to emergency care. Patient was conscious during diagnosis, displaying contractions, and Babinski reflex-positive on his left side. Biochemical parameters were within normal values. Dizepam treatment applied in emergency care did not show positive results. A hypodensity was diagnosed in the right brain hemisphere via CT. The patient's EEG could not be evaluated due to intense artifact movements. During this process, midazolam infusion was applied. Parenteral valproic acid treatment was applied, and dose was incrementally increased to 2000 mg/day. With no results, dose was incrementally increased to 3000 mg/day with the addition of levetiracetam. Extensive T1 and T2 hypointensity was observed, without any contrasts, in the total right hemisphere via MRI during the episode. Cortical diffusion restriction was observed in diffusion-weighted imaging. The patient was determined to be positive for Rasmussen's encephalitis with the diagnosis of antiepileptic epilepsia partialis continua in the clinic. An initial treatment of IV immunoglobulin (0.4 mg/kg/day) was initiated, and episodes gradually decreased and finally ended within 3 days. IV immunoglobulin treatment was completed in 5 days. No recurrence was observed. While Rasmussen's encephalitis is rarely seen in older adults, complete control was achieved with IV immunoglobulin in the present case

A novel TNFRSF1 gene mutation in a Turkish family: a report of three cases

Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited rare autoinflammatory disease. It is caused by mutations in exons 2-3 and 4-5 of the tumor necrosing factor receptor superfamily 1A (TNFRSF1A) gene on chromosome 12p13.2. TNFRSF1A gene encodes the 55-kDa receptor for tumor necrosis factor. Attacks are associated with abdominal pain, myalgia, erythematous skin rash, conjunctivitis, and periorbital edema. Until now, more than 80 mutations have been identified. We herein report three patients with TRAPS of Turkish origin. The patients were followed up in our outpatient clinic in Kocaeli University Division of Rheumatology. Because of their TRAPS associated clinical features, we isolated genomic DNA from whole blood and sequenced the exon 2-3 and 4-5 third exon of TNFRSF1A gene after amplification with appropriate primers. One of the patients with TRAPS was 47-year-old female, who described recurrent attacks of fever, urticarial rash, conjunctivitis, arthralgia, myalgia, abdominal pain, thoracic pain, headache, fatigue, and elevated acute phase response since her childhood. With the sequencing of the TNFRSF1A gene, we identified heterozygous C29R mutation, which has not been reported before in any TRAPS patient. The other patients are her sons with similar findings and age 29 and 26. They were heterozygous for C29R mutation in TNFRSF1A gene too. We report novel C29R mutation in three TRAPS patients of Turkish origin, in which the main clinical features are recurrent fever attacks, erythematous skin rash, conjunctivitis, myalgia, and arthralgia. Treatment with steroids resolved the symptoms and lesions

Molecular characterization and subtyping of Blastocystis in urticarial patients in Turkey

Objective: To investigate Blastocystis' etiologic role and association with gastrointestinal symptomatology in acute and chronic urticaria patients and to identify Blastocystis subtypes responsible for urticaria. Methods: The study included urticaria patients and healthy individuals that presented to our polyclinic between June 2015 and May 2017. The participants were assigned into Group I (137 patients), subdivided into acute (72) and chronic urticaria patients (65), and Group ? (129 control individuals). Blastocystis presence was investigated by native-Lugol examination, trichrome staining, PCR using sequence tagged site primers, and DNA sequencing analysis. The phylogenetic tree was constructed. Results: The native-Lugol and trichrome staining methods revealed that 16 patients (16/133, 12.0%) had Blastocystis-positive stool samples, of which seven samples (7/133, 5.3%) belonged acute and nine (9/133, 6.8%) to chronic urticaria patients. Concerning Blastocystis subtypes, of the acute urticaria patients, three had subtype 1 (ST1), one had ST2, and three had ST3. Of the chronic urticaria patients, one had ST1 and eight had ST3. Blastocystis positivity was detected in two control individuals (2/123, 1.6%), both being ST3. All subtypes identified by PCR were confirmed by the sequencing analysis. The acute and chronic urticaria groups showed no statistically significant differences for Blastocystis positivity (P=0.60) and subtype distribution (P=0.15). A statistically significant difference was found between the urticaria patients and the controls for Blastocystis positivity (P<0.01), but not for subtype distribution (P=0.67) or for Blastocystis presence and gastrointestinal complaints. Conclusions: This study on Blastocystis subtype distribution among Turkish urticaria patients showed results consistent with the literature. It was concluded that Blastocystis should be kept in mind in patients with urticaria. © 2019 Asian Pacific Journal of Tropical Medicine Produced by Wolters Kluwer-Medknow. All rights reserved.Firat University Scientific Research Projects Management Unit: SAG-A-240215-0128?Corresponding author: Merve Aydin, Department of Medical Microbiology, Faculty of Medicine, KTO Karatay University, Konya 42020, Turkey. Tel: +90 (332) 444 1251/7270 Fax: +90 (332) 202 0044 E-mail: [email protected]; [email protected] Foundation project: This project was financially supported by the Scientific Project Unit of Erzincan University (Project No: SAG-A-240215-0128)

The importance of the mean platelet volume in the diagnosis of supraventricular tachycardia

Background: This retrospective study aimed to investigate the diagnostic relation between the mean platelet volume (MPV) and supraventricular tachyarrhythmia (SVT) in patient with documented atrial tachyarrhythmia in the emergency department (ED). Methods: Two study groups were compared; a SVT group with arrive at the ED with documented SVT (n=122) and 100 healthy adult without any palpitation symptom, arrhythmic disease, and with normal physical examination results that were brought for checkups to the cardiology polyclinic were classified as control group. Blood samples were obtained from all patients for determining the hematologic counts and MPV during first hour in ED period. Results: In terms of the focus of the study, hemoglobin, neutrophil count, mean cell volume (MCV), red cell distribution width (RDW), platelet, white blood cell (WBC), and lymphocyte counts were similar in both group (p>0.05). MPV in the SVT group was significantly higher than in the control group (9.12±1.22 flvs 8.64±0.89 fl, p<0.001). Multivariate logistic regression analysis showed that just MPV was independent predictor of SVT in patients with palpitation in ED (odds ratio [OR] 8.497, 95% confidence interval (6.181 to 12.325), p=0.012). Conclusions: The present study described that MPV is helpful parameter for the diagnosis of SVT in emergency department, for the first time in the literature

In vivo effect of losartan on platelet aggregation in patients with hypertension

The angiotensin II receptor, losartan, has been found to inhibit platelet aggregability to some extent in in vitro experiments. There have been conflicting results about the in vivo effects of losartan. We sought to clarify the in vivo effect of losartan on platelet aggregation. Forty patients with grade I essential hypertension were treated with losartan for 3 weeks. Platelet aggregation tests with adenosine diphosphate (ADP) and ristocetin were analyzed and compared before and at the end of the study. Losartan effectively decreased systolic (SBP) and diastolic (DBP) blood pressure. Mean SBP before and after treatment was 159.6 +/- 12.8 and 149.2 +/- 17.3 mmHg, respectively. Mean DBP decreased from 93.7 +/- 8.2 to 87.7 +/- 10.3 mmHg after treatment. The results of the platelet aggregation tests with ADP and ristocetin were not significantly different when both rate and amplitude of maximal aggregation were included. Peak platelet aggregation with ADP regarding the lowest light transmission in the aggregometer was 59.8% +/- 24.3% before and 58.3% +/- 18.1% after the treatment. The same variables with ristocetin were 66.8% +/- 21.6% and 60.8% +/- 23.3%, respectively. In vivo effects of losartan on platelet aggregation with ADP and ristocetin were insignificant

The association of TNFRSF1A gene and MEFV gene mutations with adult onset Still's disease

Adult onset Still's disease (ASD) is a systemic inflammatory disorder of unknown etiology. ASD is characterized by fever with unknown etiology, rash, arthritis, and involvement of several organ systems. FMF and TRAPS are two important autoinflammatory diseases which characterized with recurrent inflammatory attacks. We aimed in this study to investigate the MEFV gene and TNFRSF1A gene variations in ASD. Twenty consecutive Turkish ASD patients (14 female and 6 male; mean age 38.45 +/- A 14; mean disease duration 3.3 +/- A 2.3; mean age of the disease onset 35.1 +/- A 14.4) and 103 healthy controls of Turkish origin were analyzed. All ASD patients were genotyped for the 4 MEFV mutations (M694V, E148Q, V726A, M680I) and TNFRSF1A gene exon 2-3 and exon 4-5 by using sequence analysis. The healthy controls are genotyped using PCR-RFLP method for intron 4 variation. The results of MEFV gene mutations screening show an increase in the MEFV mutation rate in ASD group, but it was not significantly different (p = 0.442, OR 1.64, 95 % CI 0.409-6.589). T-C polymorphism (rs1800692) was the only variation in the intron 4 of TNFRSF1A gene that we observed at the ASD patients. The frequency of TT genotype was 15 %, TC: 45 %, and CC: 40 % in ASD patients and the frequencies were 22, 41, and 37 % in healthy controls, respectively. When we analyzed the allele difference between both groups, there was no difference (p = 0.54, OR 1.24, 0.619-2.496-2.654). The variations in MEFV may have role in ASD pathogenesis. Our findings suggest that there is no significant association between ASD and TNFRSF1A variations