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Öğe Combination of myotonic dystrophy and hereditary motor and sensory neuropathy(Elsevier, 2010) Kurt, Semiha; Karaer, Hatice; Kaplan, Yuksel; Akat, Irern; Battaloglu, Esra; Eruslu, Didern; Basak, A. NazliMyotonic Dystrophy Type 1 (DM1) in combination with demyelinating neuropathy is very rare in literature. In this Study, DM1 and demyelinating neuropathy were demonstrated clinically and electromyographically in a 43-year-old female patient from Turkey. In the patient an expanded CTG repeat in the Myotonic Dystrophy Protein Kinase (DMPK) gene was confirmed in combination with a duplication in the Charcot-Marie-Tooth Disease (CMT1A) gene. DM1 was also determined in her 25-year-old son. (C) 2009 Elsevier B.V. All rights reserved.Öğe Hot Water Epilepsy: Is It An Autosomal Dominant Inherited Disorder?(Kare Publ, 2014) Kurt, Semiha; Yigit, Serbulent; Unaldi, Hatice Karaer; Kaplan, Yuksel; Aksoy, Durdane; Cevik, Betul; Solmaz, VolkanObjectives: Hot water epilepsy (HWE), also called as bathing epilepsy is a reflex epilepsy in which seizures are triggered by the stimulus of bathing in hot water. The relationship between epilepsy syndromes and genetic have been known for a long time. In this study, we aimed to determine the inheritance pattern of the five HWE cases with a positive family history. Methods: Pedigrees of the five index cases had a positive family history were drawn and their family members were interviewed. Age, sex, seizure types (classified according to ILAE Task Force on Classification and Terminology), seizure frequency, neurological examination findings, if available EEG and MRI results of patients were recorded. Results: Sixteen patients from five families were included in the study. The patients (ten male, six female) were between 15 and 73 years of age. Four families without consanguineous marriage had patients with HWE at least two generations. One family with consanguineous marriage had with HWE two generations. Conclusion: When analyzed pedigrees, except one family, the disease appears at least two generation in the same family without consanguineous marriage. Our data suggest that the HWE may be an autosomal dominant inherited disorder with low- penetrance and lowexpressivity.Öğe Karpal tünel sendromunda bilek çevresi, bel çevresi ve vücut kitle indeksi arasındaki ilişkiler(İnönü Üniversitesi Tıp Fakültesi Dergisi, 2015) Ünaldı, Hatice Karaer; Kurt, Semiha; Çevik, Betül; Mumcuoğlu, İbrahim; Sümbül, OrhanGiriş: Vücut kitle indeksi ve bel çevresi, çeşitli hastalıklarda risk faktörü olarak daha önce bildirilmiş olmasına rağmen, bel çevresiyle karpal tünel sendromu arasında bir ilişkiye dair çok az sayıda çalışma vardır. Bu çalışmada karpal tünel sendromlu hastalarda, bilek ve bel çevresiyle, vücut kitle indeksi arasındaki ilişkileri değerlendirmeyi amaçladık. Gereç ve Yöntemler: 100 karpal tünel sendromulu ardışık hasta ve 100 sağlıklı gönüllü birey çalışmaya dahil edildi. Nörolojik muayene ve sinir iletim çalışmaları yapıldı. Karpal tünel sendromulu hasta ve kontroller yaş, cinsiyet, vücut kitle indeksi, bilek ve bel çevresi yönünden karşılaştırıldı. Bulgular: Ortalama bel çevresi, ortalama bilek çevresi ve vücut kitle indeksi, karpal tünel sendromulu hastalarda kontrol grubuna göre anlamlı yüksekti (p=0.0001). Karpal tünel sendromu, vücut kitle indeksi ve bilek ve bel çevreleri arasında istatistiksel olarak anlamlı korelasyon mevcuttu (r=0.285, p<0.001; r=0.213, p=0.002; r=0.182, p=0.010). Ayrıca orta-ağır karpal tünel sendromlu hastalarla kontroller arasında bilek ve bel çevresi açısından istatistiksel olarak anlamlı fark mevcuttu (p<0.05). Sonuç: Çalışmamız karpal tünel sendromuyla bilek ve bel çevresi arasında istatistiksel olarak anlamlı ilişki olduğunu gösterdi. Bel çevresiyle karpal tünel sendromu arasında bir ilişkiye dair bulgumuz nedeniyle, viseral ve tüm vücut yağının karpal tünel sendromundaki rolü gelecek çalışmalarda dikkate alınmalıdır. Bilek ve bel çevresi ayrıca vücut kitle indeksi, basit ve pahalı olmayan bir metod olarak karpal tünel sendromu çalışmalarında kullanılabilir.Öğe Phenotypic differences in a large family with Kennedy's disease from the Middle Black Sea region of Turkey(Informa Healthcare, 2010) Karaer, Hatice; Kaplan, Yueksel; Kurt, Semiha; Gundogdu, Asli; Erdogan, Beguem; Basak, Nazli A.The family consisted of 128 individuals over five generations, with two consanguineous parents, one slightly affected female, and 12 affected males with SBMA. We studied the five surviving male patients and one surviving female carrier. The age at disease onset, phenotypic features, and disease severity varied among the family members. DNA analysis was performed on five individuals, belonging to five generations of the family. Four affected males and a slightly affected female carrier were shown to carry an expanded CAG repeat in the androgen receptor gene. This family report is consistent with previous studies suggesting that SBMA may be present with a wide clinical spectrum in affected family members. Further descriptions of SBMA affected families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease.Öğe Prevalence and Features Associated With Restless Leg Syndrome in Postmenopausal Females(Journal of Neurological Sciences (Turkish), 2014) Unaldı, Hatice Karaer; Kaplan, Yüksel; Kurt, Semiha; Demirtürk, FazlıÖz: Amaç: İnsan ve hayvan çalışmaları östrojenin dopaminerjik aktiviteyi değiştirebileceğini göstermiştir. Ovaryan follekülerin gonadotropinler ve östrojene verdiği yanıtın azalmasıyla karakterize menopoz döneminde, hipoöstrojenemik durumun sinir sistemini pek çok anatomik ve fonksiyonel bölgede etkileyebileceği kabul edilir. Çalışmamızın amacı postmenopozal dönemdeki kadınlarda Restless Legs Sendromunun (RLS) sıklığını değerlendirmektir. Ayrıca menopozun klinik özellikleriyle RLS arasındaki ilişkiyi de araştırdık. Yöntem: Bu çalışmaya menopoz döneminde olan 523 kadın dahil edildi. 334 (63.86%) kadın bu çalışmada kullanılan kriterleri karşılamadığı için çalışmadan çıkarıldı. Sonuç olarak 189 postmenopozal dönemdeki kadın değerlendirildi. Bunlar içinde 73'ü RLS'nun tüm kriterlerini karşılıyordu. Bunların 26'sında RLS'nin sekonder nedenlerinden en az biri vardı. Bu nedenle bu hastalarda elendi. 142 hastanın 26'sı (18.3%) RLS'ye neden olan herhangi bir faktör taşımıyordu. Bu hastalar grup 1 olarak sınıflandı. Kontrol grubu, bu grubla benzer yaşta (+2), RLS semptomları olmayan 56 postmenopozal kadından oluştu. Bulgular: Grup 1 hastalarında menopoz başlama yaşı daha erken ve cerrahi menopoz çok daha yüksek orandaydı. Menopoz başlama yaşlarıyla RLS arasında güçlü ve anlamlı korelasyon vardı. Tartışma: Sinir sisteminin hem santral hemde periferik kısmı yaygın olarak östrojen reseptörü içermektedir. Östrojen, nigrostriatal sistemde dopaminerjik aktiviteyi değiştirebilmektedir. Hipoöstrojenemi ile karakterize menopoz dönemi, RLS semptomlarını başlatan yada kötüleştiren bir risk faktörü olarak olabilir.Öğe Prevalence and Features Associated With Restless Leg Syndrome in Postmenopausal Females(Journal Neurological Sciences, 2014) Unaldi Karaer, Hatice; Kaplan, Yuksel; Kurt, Semiha; Demirturk, FazliBackground: Animal and human studies have shown that estrogen modulates dopaminergic activity. The hypoestrogenic state associated with menopause, characterized by a decreased ovarian follicular response to gonadotropins and estrogen, affects the nervous system at multiple anatomical or functional sites. Aims: We investigated the prevalence of restless leg syndrome (RLS) in postmenopausal females and assessed the relationship between RLS and the clinical features of menopause. Methods: We enrolled 523 menopausal females in the study. Of those, 334 (63.86%) did not meet the inclusion criteria and were excluded. Of the remaining 189 postmenopausal patients, 73 met all of the diagnostic criteria for RLS; however, 47 of those had at least one factor related to secondary RLS and were excluded from the study. The remaining 26 (18.3%) postmenopausal patients with idiopathic RLS were categorized as group 1. The control group included 56 postmenopausal females free of RLS and matched by age (+2 years) to group 1. Results: Onset age of menopause was earlier and surgical menopause was more frequent in group 1. The Pearson's correlation test revealed a strong and significant correlation between the onset ages of menopause and RLS. Conclusions: Estrogen receptors are widely distributed throughout the central and peripheral nervous systems. Estrogen modulates dopaminergic activity in the nigrostriatal system. Menopause is characterized by hypoestrogenemia, and may be a risk factor for the development or worsening of RLS symptoms.Öğe The Relationship Between Boston Questionnaire and Electrophysiological Findings in Carpal Tunnel Syndrome(Galenos Yayincilik, 2010) Kurt, Semiha; Cevik, Betul; Kaplan, Yuksel; Karaer, Hatice; Erkorkmaz, UnalObjective: Boston Questionnaire (BQ) is a method, which is used for assessment of severity of symptoms and functional status in carpal tunnel syndrome (CTS). In this study, we aimed to investigate the relationship between electrophysiological findings and scores of BQ including functional capacity and severity of symptoms. In addition, the effect of body weight on this relationship was investigated. Methods: 98 consecutive patients, who were referred to our electrophysiology laboratory with prediagnosis of CTS and had no systemic disease such as diabetes mellitus, rheumatoid arthritis, and thyroid disease, were included this study. A detailed neurological examination was performed to all patients. Median and ulnar nerve conduction studies were carried out. The patients with Body Mass Index (BMI) exceeding 30 were considered obese. BQ was applied to all patients. Results: There was a weak but a significant correlation between the results of the nerve conduction studies and the functional capacity scores. This correlation was not found in obese patients. No correlation between symptom severity scores and the findings of nerve conduction studies was determined. Conclusion: In the literature, there are a small number of studies that investigated the relationship between BQ scores and electrophysiological findings. The relationship was detected at some of there where as was not at remainders. In our study, even though the results of the nerve conduction studies were found to be correlated with functional capacity scores, there was no correlation between symptom severity scores and nerve conduction study findings. Although this relationship was found to be more significant in the non-obese patients, no relationship was observed in obese patients. (Archives of Neuropsychiatry 2010;47:237-40)Öğe Risk Factors For Diabetic Polyneuropathy(Aves, 2014) Kaplan, Yuksel; Kurt, Semiha; Unaldi, Hatice Karaer; Erkorkmaz, UnalIntroduction: The aim of this study was to investigate the risk factors for distal symmetric sensory-motor polyneuropathy (DSP) in patients with type 2 diabetes mellitus (DM). Methods: Sixty seven patients with type 2 DM (33 males and 34 females) were included in the study. In addition to a detailed neurological examination, the Michigan Neuropathy Screening Instrument was administered to all patients and their total neuropathy scores were calculated. Nerve conduction examinations were performed for all patients. Results: The mean age of the patients was 52.83 +/-.87 years. The mean glycosylated hemoglobin (HbA1C) value was 8.56 +/- 2.07% (normal: 3-6.5%). The total neuropathy score significantly correlated with diabetes duration, hypertension, retinopathy, and HbA1C. Conclusion: This study confirms the previous reports regarding the association of neuropathy with poor glycaemic control and duration of the disease. The association of neuropathy with retinopathy and hypertension is important.
