A case with CMTX1 disease showing transient ischemic-attack-like episodes

Charcot-Marie-Tooth (CMT) disease is a hereditary neurologic disease which affects the sensorial and motor fibers of the peripheral nerves. CMTX1 is an X-linked dominantly inherited subtype of CMT and is caused by mutations in gap junction beta 1 gene (GJB1). A small proportion of GJB1 mutations are associated with recurrent central nervous system findings. We describe a 15-year-old male patient with CMTX1 who had stroke-like findings along with foot deformities and peripheral neuropathy. Strokes and stroke-like attacks are rarely seen in children and adolescents. Herein, neurological signs, MRI findings and genetic results of a CMTX1 case are presented and discussed

Speech and language therapy for aphasia following subacute stroke

The aim of this study was to investigate the time window, duration and intensity of optimal speech and language therapy applied to aphasic patients with subacute stroke in our hospital. The study consisted of 33 patients being hospitalized for stroke rehabilitation in our hospital with first stroke but without previous history of speech and language therapy. Sixteen sessions of impairment-based speech and language therapy were applied to the patients, 30-60 minutes per day, 2 days a week, for 8 successive weeks. Aphasia assessment in stroke patients was performed with Gülhane Aphasia Test-2 before and after treatment. Compared with before treatment, fluency of speech, listening comprehension, reading comprehension, oral motor evaluation, automatic speech, repetition and naming were improved after treatment. This suggests that 16 seesions of speech and language therapy, 30-60 minutes per day, 2 days a week, for 8 successive weeks, are effective in the treatment of aphasic patients with subacute stroke

A case with CMTX1 disease showing transient ischemic-attack-like episodes

Charcot-Marie-Tooth (CMT) disease is a hereditary neurologic disease which affects the sensorial and motor fibers of the peripheral nerves. CMTX1 is an X-linked dominantly inherited subtype of CMT and is caused by mutations in gap junction beta 1 gene (GJB1). A small proportion of GJB1 mutations are associated with recurrent central nervous system findings. We describe a 15-year-old male patient with CMTX1 who had stroke-like findings along with foot deformities and peripheral neuropathy. Strokes and stroke-like attacks are rarely seen in children and adolescents. Herein, neurological signs, MRI findings and genetic results of a CMTX1 case are presented and discussed. (c) 2017 Polish Neurological Society. Published by Elsevier Sp. z o.o. All rights reserved

The course of post-stroke bladder problems and their relation with functional and mental status and quality of life: A six-month, prospective, multicenter study

WOS: 000511167800006PubMed: 31893270Objectives: the aim of this study was to evaluate the frequency and course of post-stroke lower urinary tract dysfunction (LUTD) from early term up to a period of six months and to investigate the relation of LUTD with functional and mental status and quality of life (QoL) in stroke patients. Patients and methods: This prospective study included a total of 70 stroke patients (44 males, 26 females; mean age 62.7 +/- 7.0 years; range, 46 to 79 years) from five different centers across Turkey between June 2015 and January 2017. the patients were questioned using the Danish Prostatic Symptom Score (DAN-PSS) to evaluate LUTD and evaluated using the Modified Barthel Index (MBI), Incontinence QoL Questionnaire (I-QOL), and Mini-Mental State Examination (MMSE) at one, three, and six months. Results: At least one symptom of LUTD was observed in 64 (91.4%), 58 (82.9%), and 56 (80%) of the patients according to the DAN-PSS at one, three, and six months, respectively. A statistically significant improvement was found in the DAN-PSS, MBI, MMSE, I-QOL total scores, avoidance and psychosocial subgroup scores at six months compared to the first month scores (p<0.05). There was a significant negative correlation between the DAN-PSS symptom score at one month and the MBI, MMSE, and QoL scores at six months. the DAN-PSS bother and total scores were found to be significantly and negatively correlated only with the subscales of the QoL questionnaire. Conclusion: Based on our study results, LUTD was very common and the prevalence of LUTD findings decreased constantly during six-month follow-up, showing an association with a poor cognitive and functional status and QoL in stroke patients with LUTD

Bazı Ekmeklik Buğday Çeşitlerinde Rapd ve Issr Analizleriyle Genetik Farklılıkların Belirlenmesi

Bu çalışmada, bazı buğday çeşitlerinin arasındaki RAPD ve ISSR analizine dayalı genetik mesafelerin belirlenerek ayrımının yapılması amaçlanmıştır. Araştırma sonuçlarına göre, primerler genotipleri güçlendirilmiş bantların sayısı RAPD’ de 3-10, ISSR’ de 6-10 arasında değiştiği belirlenmiş olup, primer/primer kombinasyonları içerisinde RAPD’de OPBA-03, OPL-15 ve OPY-13’den; ISSR’de UBC810 elde edildiği ortaya konmuştur. Dendogram sonuçlarına göre çeşitler göre üç grup altında sınıflandırılmıştır. Yunus, Altay-2000, Naci Bey, Sultan-95, Harmankaya ve Soyer çeşitlerinin uzak ilişkili; Alpu-01 ve Nacibey çeşitlerinin ise yakın ilişkili çeşitler olduğu tespit edilmiştir. Yine RAPD ve ISSR yöntemlerinin genetik varyasyonu değerlendirmek, yeni çeşitlerin geliştirilmesi ve sınıflamasında kullanılabilir yöntemler olduğu belirlenmiştir

Bazı Arpa (Hordeum vulgare L.) Genotiplerinin Genetik Farklılığının RAPD ve ISSR Analizleri ile Belirlenmesi

The objective of this study was to determine genetic distance between barley genotypes based on RAPD and ISSR analyses. The number of amplified bands of genotypes in the primers ranged 4-11 in RAPD and 7-11 in ISSR. The most polymorphic bands in primer/primer combinations were obtained from OPA-04, OPA-13 and OPH-17 in RAPD, and UBC-808, UBC-820 and UBC-872 in ISSR. Results showed that average polymorphic rate was 86.5%. Performances of cultivars in groups asist possibility in creating genetic variability in barley cultivar development. RAPD and ISSR methods are useful for evaluation of genetic diversity and could be safely used to determine the genetic relationships in barley genotypes

Factors affecting breast cancer treatment delay in Turkey: a study from Turkish Federation of Breast Diseases Societies

WOS: 000352013300004PubMed ID: 25096257Background: One of the most important factors in breast cancer (BC) mortality is treatment delay. The primary goal of this survey was to identify factors affecting the total delay time (TDT) in Turkish BC patients. Methods: A total of 1031 patients with BC were surveyed using a uniform questionnaire. The time between discovering the first symptom and signing up for the first medical visit (patient delay time; PDT) and the time between the first medical visit and the start of therapy (system delay time; SDT) were modelled separately with multilevel regression. Results: The mean PDT, SDT and TDT were 4.8, 10.5 and 13.8 weeks, respectively. In all, 42% of the patients had a TDT >12 weeks. Longer PDT was significantly correlated with disregarding symptoms and having age of between 30 and 39 years. Shorter PDT was characteristic of patients who: had stronger self-examination habits, received more support from family and friends and had at least secondary education. Predictors of longer SDT included disregard of symptoms, distrust in success of therapy and medical system and having PDT in excess of 4 weeks. Shorter SDT was linked to the age of >60 years. Patients who were diagnosed during a periodic check-up or opportunistic mammography displayed shorter SDT compared with those who had symptomatic BC and their first medical examination was by a surgeon. Conclusion: TDT in Turkey is long and remains a major problem. Delays can be reduced by increasing BC awareness, implementing organized population-based screening programmes and founding cancer centres.Roche Mustahzarlari San. A.S., Istanbul, TurkeyThis study was supported by a grant from Roche Mustahzarlari San. A.S., Istanbul, Turkey