Volume CXIV, Number 4, November 7, 1996

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespa

Evaluation of the efficacy of pregabalin in oncology patients with neuropathic pain

Objectives: This study aims to evaluate the efficacy of pregabalin in oncology patients, which has been frequently used in recent years in the treatment of neuropathic pain. Patients and methods: Between January 2014 and September 2014, 30 oncology patients (17 females, 13 males; mean age 39.9 years; range 28 to 52 years) who were diagnosed with neuropathic pain were included. Baseline visual analog scale (VAS) and the Leeds Assessment of Neuropathic Symptoms and Signs (LANSS) scores were recorded. The VAS and LANSS scores were recorded at one and three months among patients receiving pregabalin therapy (300 mg/day). Results: Visual analog scale and LANSS values before the treatment were found 76.83 and 16.70 respectively, 66.16 and 12.83 at the first month, 46.16 and 8.93 at the third month. Conclusion: Our results show that, pregabalin that has been frequently used in recent years for neuropathic pain in the practice of different clinics, was found to be highly effective both in short-term and mid-term in oncology patients

Phylogeography of the genusChondrostomaAgassiz, 1835 (Teleostei: Leuciscidae) in Anatolia, as inferred from mitochondrial DNA analysis

WOS: 000550952000001The molecular phylogeny of the Anatolian species of the genusChondrostoma(Cypriniformes: Leuciscidae) was studied by sequencing of the mitochondrial cyt b gene. A total of 144 tissue samples from 14 described species were collected from 35 different localities in Turkey. in total, 74 cyt b haplotypes were identified. Haplotype network construction and phylogenetic analysis allocated all 14 species to two main haplogroups that are congruent with those currently accepted on the basis of morphological characteristics. the first haplogroup, the Nasus lineage, is distributed across Caucasia and the Black Sea and Marmara regions and is also represented in the Aegean basin. the second haplogroup, the Regium lineage, is distributed from eastern Anatolia to the Mediterranean Sea basin. Based on estimates generated in this study, the radical divergence between the mainChondrostomahaplogroups in Turkey occurred during the late Miocene (Tortonian stage) and late Pliocene Period, approximately 5.82 Mya (8.48-3.45 Mya). the splitting of the Nasus lineage occurred approximately 5.11 Mya, in the early Pliocene, and the Regium Lineage diverged from its sister group, the Nasus lineage approximately 4.77 Mya. the primary diversification events for the species belonging to these two haplogroups occurred in the Late Pliocene to Early Pleistocene which coincides with the uplifting of the Anatolian plateau about 2.5-3.0 Mya.Scientific and Technological Research Council of Turkey (TUBITAK), Directorate of Academic Research Funding Programmes (ARDEB)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [KBAG-111T900]This study was funded by a government grant from the Scientific and Technological Research Council of Turkey (TUBITAK), Directorate of Academic Research Funding Programmes (ARDEB) (Project No: KBAG-111T900)

Two New Species of Chondrostoma Agassiz, 1832 (Teleostei: Cyprinidae) from the Ceyhan, Seyhan and Goksu Rivers in the East Mediterranean Region of Turkey

GUCLU, Salim Serkan/0000-0002-9256-449XWOS: 000403575500015Chondrostoma toros sp.n. was described from the Goksu River. It was distinguished by a slightly arched lower jaw with a well-developed keratinized edge; a slightly developed keel in front of the dorsal-fm origin; lateral line with 56-64+1-3 scales; and 25-30 gill-rakers on outer side of first gill arch. Chondrostoma ceyhanensis sp.n. was described from Ceyhan, Seyhan and Berdan rivers. It was distinguished by its arched lower jaw with a slightly developed keratinized edge; a slightly developed keel between pelvic-fin and anus; lateral line with 59-66+1-3 scales; and 24-29 short gill-rakers on outer side of first gill arch.Scientific and Technological Research Council of Turkey (TUBITAK)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [KBAG-111T900]This study was supported by a grant from Scientific and Technological Research Council of Turkey (TUBITAK) (Project No: KBAG-111T900

A new Chondrostoma species from the Buyuk Menderes River Basin, Turkey (Teleostei: Cyprinidae)

GUCLU, Salim Serkan/0000-0002-9256-449XWOS: 000445800000004In a study of the fishes of the Buyuk Menderes River Basin, Aegean region of Turkey, two populations of Chondrostoma were found which showed clearly distinctive characters: the population from the Upper B. Menderes (Ikl Lake) was attributed to C. meandrense Elvira, 1987, while the population from the Cine Stream in the Lower B. Menderes River basin proved to be a hitherto undescribed species: Chondrostoma turnai sp. n. Altogether 24 metric and 7 meristic parameters were compared. the new species is distinguished from C. meandrense and all other cogeners by a combination of the number of lateral line scales, the number of scale rows between the lateral line and the dorsal-fin origin, the number of scale rows of the lateral line and pelvic-fin origin, and the number of gill rakers on the first gill arch.http://www.zoobank.org/urn:lsid:zoobank.org:pub:811C213D-BEDD-4C8C-AE57-BFFA7964781AScientific and Technological Research Council of Turkey (TuBTAK)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [KBAG-111T900]This study was supported by a grant from the Scientific and Technological Research Council of Turkey (TuBTAK) (Project No: KBAG-111T900)

Evaluation of the Size and Area of the Corpus Callosum with the Osiris Method in Alzheimer's Disease

Background/Objective: Significant corpus callosum (CC) atrophy has been demonstrated in patients with Alzheimer's disease (AD). The aim of this study is to evaluate the size and the area of the CC with the Osiris method. The correlation between the CC measurements and Mini-Mental Status Examination (MMSE) scores in AD patients was also investigated. Methods: The results of the topographic measurements included the cross-sectional area of entire CC, body, rostral portion of the genu and splenium from a midsagittal magnetic resonance imaging section. The results of the topographic measurements of CC on MRI with the Osiris method were compared between AD (n = 29) and control subjects (n = 27). Results: In AD patients the mean value of the splenium was 9.2 +/- 1.5 mm, the width of the CC body was 3.9 +/- 8 0.2 mm, the rostral portion of the genu was 7.9 +/- 0.2 mm, and the total CC area was 47.2 +/- 0.9 mm(2). In the control group the mean values were 12.2 +/- 2.1 mm, 5.9 +/- 0.2 mm, 11.2 +/- 0.2 mm and 56.1 +/- 0.6 mm(2), respectively. Significant reduction was detected in the splenium, the CC body and the rostral part of the genu and CC area in AD patients. The MMSE score was 18.9 +/- 4.5 in the AD patients and 29.1 +/- 0.9 in the control subjects. A significant positive correlation between the MMSE scores and each CC measurement was seen in the AD patients. Conclusion: The results of this study suggest that callosal atrophy in AD may suggest the severity of the disease. The Osiris method for CC measurements may be used as an easy and reliable technique to assess the severity of the disease. Copyright (C) 2009 S. Karger AG, Base

Adipose tissue 11-beta-Hydroxysteroid Dehydrogenase Type 1 and Hexose-6-Phosphate Dehydrogenase gene expressions are increased in patients with type 2 diabetes mellitus

Aims: We have determined 11-beta-Hydroxysteroid Dehydrogenase Type I (HSD11B1) and Hexose-6-Phosphate Dehydrogenase, (H6PD) mRNA expression levels in adipose tissues from patients with type 2 diabetes mellitus

Is there a relationship between gouty arthritis and Mediterranean fever gene mutations?

Objective: Gouty arthritis and familial Mediterranean fever share some clinical and pathological features such as being classified as auto-inflammatory disease, association with inflammasome, short-lived intermittent arthritis, and good response to colchicine and anti-interleukin-1 treatments. As Mediterranean fever gene is the causative factor of familial Mediterranean fever, we aimed to investigate the prevalence of Mediterranean fever gene mutations and their effect on disease manifestations in Turkish gouty arthritis patients

Existe uma relação entre a artrite gotosa e as mutações genéticas da febre familiar do Mediterrâneo?

RESUMO Objetivo A artrite gostosa e a febre familiar do Mediterrâneo (FFM) compartilham algumas características clínicas e patológicas, como ser classificada como uma doença autoimune inflamatória, ter associação com o inflamassoma, manifestar artrite intermitente de curta duração e boa resposta a tratamentos com colchicina e anti-interleucina-1. Como o gene da febre familiar do Mediterrâneo (MEFV) é o fator causador da FFM, este estudo teve como objetivo investigar a prevalência de mutações do gene MEFV e seu efeito sobre as manifestações da doença em pacientes turcos com artrite gotosa. Métodos Foram incluídos no estudo 97 pacientes com diagnóstico de artrite gotosa primária (93 M e 4 F; 54 [37-84] anos) e 100 controles saudáveis (94 M e 6 F; 57 [37-86] anos). Todos os indivíduos foram submetidos à análise do genótipo à procura de variações no MEFV. Também foi registrado o número de crises de gota, o uso de diuréticos e a história de nefrolitíase e presença de tofos. Resultados A frequência de portadores de mutações no MEFV em pacientes e controles foi de 22,7% (n = 22) e 24% (n = 24), respectivamente. A comparação entre os pacientes e os controles não produziu diferença estatisticamente significativa em termos de frequência de portadores de mutações no MEFV (p = 0,87). As frequências alélicas de mutações no MEFV nos pacientes foram de 11,9% (n = 23) e 14% (n = 28) nos controles (p = 0,55). A presença de variantes do MEFV não mostrou qualquer associação com as características clínicas da artrite gotosa. A análise por subgrupos de pacientes revelou que aqueles com artrite gotosa com mutações tinham frequências semelhantes de tofo, história de nefrolitíase e podogra em comparação com os indivíduos sem mutações (p > 0,05). Conclusões As mutações no gene MEFV não exercem um papel relevante em pacientes turcos com artrite gotosa