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Background/aim: It is of crucial importantance to be able to detect acute psychological distress in patients. The Intensive Care Psychological Assessment Tool (IPAT) was developed for this purpose in intensive care units. This study aims to evaluate the validity and reliability of the Turkish version of IPAT.Materials and methods: In total, 98 patients were included. To assess concurrent validity, the Intensive Care Experiences Scale (ICES) and the Hospital Anxiety Depression Scale were performed. Cronbach?s alpha coefficient was used to estimate internal consistency. Interitem and item-total score correlations were also performed. Sensitivity and specificity were derived for concurrent anxiety and depression.Results: The internal reliability was good. Cronbach?s a = 0.85. Items were well-correlated, with an average interitem correlation of 0.38. The concurrent validity of IPAT was good. Correlation between IPAT scores, anxiety, depression, ICES, and the diagnosis of delirium were as follows, respectively: r = 0.61, P < 0.01, r = 0.54, P < 0.01, r = ?0.66, P < 0.01, r = 0.37, P < 0.01. With a cutoff score of ? 6, IPAT showed 85% sensitivity and 61% specificity to detect concurrent anxiety, and 74% sensitivity and 82% specificity to detect concurrent depression [AUC = 0.77 (95% CI, 0.68?0.87) and 0.84 (95% CI, 0.76?0.92), respectively].Conclusion: The Turkish version of IPAT was found to be a valid and reliable tool to assess acute psychological distress among patients in intensive care units.

Objective: Mutations of the genes encoding transcription factors which play important roles in pituitary morphogenesis, differentiation and maturation may lead to combined pituitary hormone deficiency (CPHD). PROP1 gene mutations are reported as the most frequent genetic aetiology of CHPD. The aim of this study was to describe the phenotypes of Turkish CPHD patients and define the frequency of PROP1 mutations. Methods: Fifty-seven CPHD patients from 50 families were screened for PROP1 mutations. The patients were affected by growth hormone (GH) and additional anterior pituitary hormone deficiencies. Results: All patients had GH deficiency. In addition, 98.2% had central hypothyroidism, 45.6% had hypogonadotropic hypogonadism, 43.8% had adrenocorticotropic hormone deficiency and 7.1% had prolactin deficiency. Parental consanguinity rate was 50.9% and 14 cases were familial. Mean height standard deviation score (SDS) and weight SDS were -3.8±1.4 and -3.1±2.0, respectively. Of 53 patients with available pituitary imaging, 32 (60.4%) showed abnormalities. None had extra-pituitary abnormalities. Eight index patients had PROP1 gene mutations. Five sporadic patients were homozygous for c.301_302delAG (p.Leu102CysfsTer8) mutation, two siblings had exon 2 deletion, two siblings had complete gene deletion and two siblings were homozygous for the novel c.353A>G (p.Q118R) mutation. The frequency of the PROP1 mutations was 16% in our cohort. Mutation rate was significantly higher in familial cases compared to sporadic cases (42.8% vs 11.6%; p

Idiopathic hypogonadotropic hypogonadism (IHH) comprises a group of rare genetic disorders characterized by pubertal failure caused by gonadotropin-releasing hormone (GnRH) deficiency. Genetic factors involved in semaphorin/plexin signaling have been identified in patients with IHH. PlexinB1, a member of the plexin family receptors, serves as the receptor for semaphorin 4D (Sema4D). In mice, perturbations in Sema4D/PlexinB1 signaling leads to improper GnRH development, highlighting the importance of investigating PlexinB1 mutations in IHH families. In total, 336 IHH patients (normosmic IHH, n = 293 and Kallmann syndrome, n = 43) from 290 independent families were included in the present study. Six PLXNB1 rare sequence variants (p.N361S, p.V608A, p.R636C, p.V672A, p.R1031H, and p.C1318R) are described in eight normosmic IHH patients from seven independent families. These variants were examined using bioinformatic modeling and compared to mutants reported in PLXNA1. Based on these analyses, the variant p.R1031H was assayed for alterations in cell morphology, PlexinB1 expression, and migration using a GnRH cell line and Boyden chambers. Experiments showed reduced membrane expression and impaired migration in cells expressing this variant compared to the wild-type. Our results provide clinical, genetic, molecular/cellular, and modeling evidence to implicate variants in PLXNB1 in the etiology of IHH.

Metabolism has a role in determining the time of pubertal development and fertility. Nonetheless, molecular/cellular pathways linking metabolism/body weight to puberty/reproduction are unknown. The KNDy (Kisspeptin/Neurokinin B/Dynorphin) neurons in the arcuate (ARC) nucleus of the hypothalamus constitute the GnRH (Gonadotrophin-releasing hormone) pulse generator. We previously created a mouse model with a whole-body targeted deletion of nescient helix-loop-helix 2 (Nhlh2; N2KO), a class II member of the basic helix-loop-helix (bHLH) family of transcription factors. As this mouse model features pubertal failure and late-onset obesity, we wanted to study whether NHLH2 represents a candidate molecule to link metabolism and puberty in the hypothalamus. Exome sequencing of a large Idiopathic Hypogonadotropic Hypogonadism (IHH) cohort revealed obese patients with rare sequence variants in NHLH2, which were characterized by in silico protein analysis, chromatin immunoprecipitation, and luciferase reporter assays. In vitro heterologous expression studies demonstrated that the variant p.R79C impairs Nhlh2 binding to the Mc4r promoter. Furthermore, p.R79C and other variants show impaired transactivation of the human KISS1 promoter. These are the first inactivating human variants that support NHLH2’s critical role in human puberty and body weight control. Failure to carry out this function results in the absence of pubertal development and late-onset obesity in humans.

Background: COVID-19 is a multisystemic infection with variables consequences depending on individual and comorbid conditions. The course and outcomes of COVID-19 during neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD) are not clearly known. Objective methods: the aim of this study was to examine the features and outcomes of COVID-19 infection in NMOSD and MOGAD patients. The patients' demographic and clinical factors, disease modifying treatment (DMT) used and disease information of COVID-19 infection were recorded. Conditions leading to hospitalization and severe exposure to COVID-19 infection were also analyzed. Results: the study included 63 patients from 25 centers. Thirty-two patients (50.8%) belong to AQP-4 seropositive group, 13 (20.6%) and 18 (28.6%) were in MOG-positive and double-seronegative groups, respectively. Risk factors for severe COVID-19 infection and hospitalization were advanced age, high disability level and the presence of comorbid disease. Disease severity was found to be high in double-seronegative NMOSD and low in MOGAD patients. No statistically significant effect of DMTs on disease severity and hospitalization was found. Conclusion: in NMOSD and MOGAD patients, advanced age, high disability and presence of comorbid disease pose risks for severe COVID-19 infection. There was no direct significant effect of DMTs for COVID-19 infection., NA

We aimed to examine the effect of esophagectomy after chemoradiotherapy (CRT) or non-surgical follow-up after CRT in patients with locally advanced esophageal squamous cell carcinoma (ESCC).A total of 653 patients under follow-up for locally advanced ESCC between 2010-2019 were reviewed for enrollment. Patients with no distant metastasis at the time of diagnosis who underwent esophagectomy or were taken under observation following CRT were included in the study. Overall, 127 eligible patients were included, 55 of whom were male (43.3%) and 72 female (56.7%).After CRT, 59 patients (53.5%) had undergone surgery and 68 (46.5%) were taken under observation. Median disease-free survival (mDFS) was not reached in the group that underwent surgery and was 13 months in the observation group (p0.001). Median overall survival (mOS) was significantly longer in the operated group (p=0.006). There was no statistically significant difference in DFS and OS between patients who underwent surgery and those included in the observation group after achieving clinical and pathological complete response following CRT (p=0.119, p=0.699, respectively). The multivariate analysis identified surgery and increased CRT response as the factors that affect DFS (p=0.042, p0.001, respectively).In this study, surgery provided no additional benefit on survival in locally advanced ESCC patients with complete response while prolonged survival was observed in those without complete response. Key words: esophageal cancer, chemoradiotherapy, squamous cell carcinoma, observation .

Background: Fabry disease (FD) is known as a rare cause of stroke. Recent studies suggested that FD is an underdiagnosed entity among young stroke patients. We aimed to investigate the frequency of FD in young cryptogenic stroke patients who lived in the City of Sakarya and to define the clinical features that help in recognizing patients with FD. Methods: Acute ischemic stroke patients aged 1855 years who were admitted to our hospital between October 2013 and September 2016 were evaluated for inclusion. Patients with other recognized causes of stroke were excluded. The screening was performed for alpha-galactosidase A (alpha-Gal A) activity on dried blood spot, and DNA was sequenced for GLA mutation in patients with low plasma alpha-Gal A activity. Results: Among the 484 acute ischemic stroke patients, 54 (24 male, 44.4%) young cryptogenic stroke patients were enrolled. The alpha-Gal A activity was detected as low in 3 patients. c.[680G > A] p.[R227Q] missense mutation was identified in 2 male patients. The frequency of FD was calculated as 3.7%. Conclusions: Our research is the first FD screening study in Turkish stroke patients. Our results underlined the importance of considering FD during the etiologic evaluation of young cryptogenic stroke patients as it is a rare but potentially treatable entity.

To ascertain the factors that govern morbidity, mortality, and recurrence in incarcerated femoral hernia.Observational study.Department of General Surgery, Faculty of Medicine, Van Yuzuncu Yil University, Van, Turkey, between January 2010 and January 2020.This observational study included patients operated on due to incarcerated femoral hernias under emergency conditions. The preoperative, intraoperative, and postoperative parameters of the patients were gathered. The study excluded pregnant patients and patients in the pediatric age group (0‒18 years). Mann-Whitney U-test was used to compare quantitative variables. In addition, a Chi-square test and Likelihood-ratio test were used to compare the qualitative variables. A p-value0.05 was deemed statistically significant.The mean age of the 50 patients was 54.56 ± 19.34 (19‒91) years and the female/male ratio was 33:17. The morbidity, mortality, and recurrence rates of the study were 14%, 4%, and 6% respectively. Higher morbidity was observed in patients who had preoperative nausea (p = 0.003), vomiting (p0.001), tachycardia (p0.001), recurrent hernia (p0.001), surgery under general anesthesia (p0.001) or who underwent both laparotomy (p = 0.007) and visceral resection during surgery (p0.001). Higher rates of mortality were observed in patients who had preoperative tachycardia (p = 0.054) or visceral resection during surgery (p = 0.029). However, the study identified no factors affecting recurrence.In cases of incarcerated femoral hernia, symptoms of intestinal obstruction or signs of strangulation are more important in the development of postoperative morbidity. In addition, the probability of mortality is higher in patients who had preoperative tachycardia and in patients who underwent visceral resection. To the extent possible, regional anesthesia should be preferred in suitable cases. Key Words: Femoral hernia, Laparotomy, Morbidity, Mortality, Recurrence.

Introduction: In this study, we aimed to examine the relation between pre-treatment 18F-FDG PET/CT metabolic parameters [(including the maximum standard uptake value (SUVmax), metabolic tumor volume (MTV), and tumor lesion glycolysis (TLG)] and treatment response and survival in locally-advanced Esophageal Squamous Cell Cancer (ESCC) treated with definitive chemoradiotherapy (dCRT). Methods: A total 76 patients with locally-advanced ESCC who received dCRT between June 2015 and December 2019 were included in this retrospective study. Patients were divided into two groups as complete response (CR) or non-complete response (Non-CR) according to response to treatment. AUC was obtained as 0.749 (p < 0.001) in the ROC curve drawn by MTV for the CR. The MTV value was 12cm3 in 41(54%) patients. Median follow-up time was 14.5 months. In patients with MTV > 12cm3, median progression-free survival(mPFS) and median overall survival(mOS) were 9 months and 11 months, respectively, whereas mPFS and OS could not be reached in those with MTV & LE;12 cm3 (p < 0.001 and p < 0.001, respectively). In patients with non-CR, mPFS and mOS were 8 months and 9 months, respectively, whereas mPFS and OS could not be reached in patients with CR (p < 0.001 and p < 0.001, respectively). In multivariate analysis, age (odds ratio [OR], 1.07), ECOG PS (OR, 11.1), and MTV (OR, 4.73) were found to be the factors affecting treatment response. Conclusion: In our study, treatment response and MTV were found to be the factors associated with survival in patients treated with dCRT, showing the pre-treatment MTV value as a predictor of treatment response.

Background Lung transplant (LTX) can provide a survival benefit and improve physical function for selected patients with advanced pulmonary disease. Sarcopenia is a systemic muscle-failure that can be found in a variety of life stages and disabilities. In this study, we follow the evolution of each variable defined in sarcopenia and the outcomes in LTX recipients with post-transplant sarcopenia. Methods Patients who underwent LTX at Tohoku University Hospital between 2013 and 2018 were consecutively included in the retrospective cohort study, with follow-up to 2019. Sarcopenia was defined by low muscle mass (the cross-sectional area (CSA) of erector spinae muscle (ESM) in thoracic CT with a threshold 2/m2) and either low muscle strength (hand-grip with a threshold of Results Fifty-five recipients were included into the study, of whom 19 patients were defined as sarcopenic and 36 as non-sarcopenic. The muscle mass improved after transplant in both sarcopenic and non-sarcopenic individuals: the median ESM-CSA enlarged from 17.25 cm2/m2 in 2 months post-LTX to 18.55 cm2/m2 in 12 months (p 2/m2 in 36 months (p 2/m2 in 2 months to 16.31 cm2/m2 in 12 months (p 2/m2 in 36 months (p p p = 0.951 in 36 months). Accordingly, muscle strength and physical performance in both groups improved over time. No difference in survival was seen in both groups (Log-rank p = 0.096), and sarcopenia was not associated with an overall hazard of death (p = 0.147). There was no difference in the cumulative incidence of chronic lung allograft dysfunction between patients with or without sarcopenia (Log-rank p = 0.529). Conclusions Even patients with post-transplant sarcopenia have a chance to recover physical function to levels close to those without sarcopenia several years post LTX.

Purpose: Esophageal squamous cell carcinoma (ESCC) is an extremely fatal and relatively rare gastrointestinal system malignancy. This study aimed to investigate the factors affecting survival in operated patients with ESCC.Materials and Methods: We included 110 patients (38 [34.5%] male; 72 [65.5%] female) aged ≥18 (median age, 54 [26–77]) years who were operated without any signs of metastases and followed up at Van Yüzüncü Yıl University Dursun Odabaşı Medical Center between 2004 and 2019.Results: Initially, 39 (35.5%) patients were clinical lymph node-positive and 71 (64.5%) patients were negative. Thirty-five (31.8%) patients underwent surgery after neoadjuvant chemoradiotherapy (nCRT) and 75 (%68.2) patients underwent direct surgery without nCRT. Five-year overall survival (OS) was 84.4% and 59.2% in patients who underwent surgery after nCRT and in those who underwent direct surgery, respectively. Median OS was significantly longer in patients who underwent surgery after nCRT (p=0.003). There was a statistically significant difference in OS in patients who underwent surgery after nCRT depending on tumor response (p=0.04). In multivariate analysis, advanced pathologic stage (p=0.002) adversely affected survival, whereas nCRT administration (p=0.031) positively affected OS.Conclusion: We suggest that nCRT should be administrated before surgery, especially in locally advanced ESCCs. In addition, we believe that nCRT response can be used as a good parameter for survival. These results, however, should be supported by prospective studies.

The choroid plexus (CP) performs multiple functions such as secretion and reabsorption. CP also acts as the blood-cerebrospinal fluid barrier. Prolidase plays an important role in collagen metabolism by degrading imidodipeptides, in which proline or hydroxyproline residue is located at the C-terminal end. Serum prolidase activity (SPA) may reflect the degree of fibrosis and inflammation. Choroid plexus calcification (CPC) is considered as the physiological calcification of the brain, and CPC is diagnosed by the presence of calcification in the anatomical region on computed tomography (CT). Here, CPC and non-calcified CP were defined by Hounsfield Units (HU) values of > 150 and < 50, respectively. We aimed to measure SPA in subjects with CPC and those with non-calcified CP. This study included 89 subjects who were admitted to the neurology clinic and underwent CT: 44 subjects with CPC and 45 subjects with non-calcified CP. The neurological examination of all subjects was normal; namely, the subjects with CPC were asymptomatic. The SPA level was significantly higher in the CPC group than that in the non-calcified CP group (p < 0.002), and there was a significant positive correlation between vitamin D and SPA levels in the CPC group. In contrast, the vitamin D and parathyroid hormone levels were higher in the CPC group, but the difference was not statically significant (p > 0.05). These findings indicate that SPA is a biomarker for CPC that may be predictive of future brain disease.

WOS: 000430763800010 PubMed ID: 29395671 The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe. (C) 2017 Elsevier B.V. All rights reserved.

Introduction: The effect of obesity on response to neoadjuvant chemotherapy (NACT) remains unknown. We aimed to investigate the effect of obesity on response to NACT and survival in locally-advanced gastric cancer (GC). Methods: From 2010 to 2019, 142 GC patients with clinical stage III disease who underwent curative surgery after NACT were enrolled. Patients were divided into 3 groups according to body mass index (BMI) as follows; BMI < 25 kg/m2, BMI = 25-30 kg/m2, and BMI > 30 kg/m2. The Mandard tumor regression grading system was used for tumor regression grade (TRG). Results: Of the 142 GC patients, 45(31.7%) were female. The median age was 58 years. BMI was < 25 kg/m2 in 60 (42.3%) patients, 25-30 kg/m2 in 44 (31%) patients, and > 30kg/m2 in 38 (26.8%) patients. The numbers of patients with TRGI-II, TRGIII, and TRGIV-V were 35 (24.6%), 44 (31%), and 63 (44.4%), respectively. There was no statistically significant difference among BMI groups in terms of disease-free survival (DFS) and overall survival (OS) (p = 0.919 and p = 0.398, respectively). According to TRG groups; mDFS was 46 months in TRG I-II, 28 months in TRG III, and 18 months in TRG IV-V (p

We aim to evaluate the change in the diagnostic spectrum in dermatology outpatient applications compared to before COVID‐19. All patients were enrolled from the Department of Dermatology between February 12 and May 8, 2020, the duration of 4 weeks before COVID‐19 and eight weeks after were analyzed in 3 parts consisting of 4 weeks. Data obtained from the database such as age, gender, diagnoses were anonymized. Repeated applications with the same diagnosis in ten days after the first presentation were ignored. Compared to the pre‐outbreak, there was a 3.5‐fold decrease in dermatology applications in the first month after COVID‐19 and an 8.8‐fold in the second month. We found a significant increase in the frequency of diagnoses such as generalized pruritus, pityriasis rosea, alopecia areata, bacterial skin/mucosa diseases, and zona zoster after COVID‐19. The frequency declined in diseases such as verruca vulgaris, hyperpigmentation, skin tag, melanocytic nevus, seborrheic keratosis/solar lentigo. It has been found that the frequencies of most diseases, including acne (⁓25% of patients), did not change. We think that many factors, such as affecting the quality of life, risk perception, increased stress burden may cause a change in the diagnostic distribution of the dermatology applications. This article is protected by copyright. All rights reserved.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease leading to motor neuron damage. In this study, the clinical, demographic, and genetic features of ALS patients in the city of Sakarya, Turkey, were investigated. Patients with an established diagnosis of ALS according to the Awaji criteria were included. Age, sex, age at onset of ALS, initial complaints, consanguineous marriage, and genetic features were retrospectively investigated. Conventional genetic analysis and NGS were used for molecular evaluation of patients. A total of 55 probands (10 familial, 45 sporadic) in whom ALS was suspected due to their phenotypic features were included. Thirty-two patients were male (58.2%), and 23 were female (41.8%); their mean ages were 62.65 +/- 13 years. The mean age of onset for 37 familial patients from 10 families was 49.9 years. Two cases had juvenile-onset. Fourteen (25.5%) bulbar-onset versus 40 (72.7%) limb-onset patients were detected; one patient had both. Six (10.9%) patients showed marked frontotemporal dementia. Twenty-nine (52.7%) patients died during the follow-up period. Genetic analysis identified causative variants in eleven cases, carrying variants in six different ALS genes (C9orf72,SOD1,VCP,SPG11,TBK1, and SH3TC2). Genetic investigations have revealed more than 40 genes to be involved in the pathogenesis of ALS. Our relatively small study cohort restricted to one province of Turkey, however, prone to migration, consists of 10/55 familial ALS cases, which harbor two rare (SH3TC2-p.Met523Thr and TBK1-p.Glu643del) and two novel (SPG11-p.Lys656Valfs*11 and VCP-p.Arg191Pro) mutations contributing to the literature. Suna and Inan Kirac Foundation at Koc University-KUTTAM The genetic analyses of this study were financed by Suna and Inan Kirac Foundation at Koc University-KUTTAM. WOS:000548764100001 32671691 Q3

Cannabis is the most prevalent illicit drug used in the world. We aimed to determine prevalence and some characteristics of cannabis use in Turkey. The study was based on a cross-sectional survey conducted with a nationally representative sample of 8045 individuals with in-house interviews. The life-time prevalence of substance use was found as 2.8%. Cannabis with 0.7% life-time prevalence, was the most commonly used substance. Cannabis users were concerned about some adverse outcomes such as anxiety with withdrawal (14%), losing control about using the drug (14%), daily performance problems (10.9%) and problems about interpersonal violence (6.9%). 35.1% of them wanted to quit and 18% regretted using cannabis. Prevalence of cannabis use is lower in Turkey compared with most of the other countries in the world. Nevertheless, it is a significant health concern. Identifying characteristics and attitudes related with cannabis use may help to improve policies about protective measures.

DIZDAR, DENIZHAN/0000-0002-0991-2706; DIZDAR, DENIZHAN/0000-0002-0991-2706; WOS:000394351800029 PubMed: 27577041 Olfactory dysfunction and migraine has been associated for a long time. In this study, we planned to compare olfactory functions in patients with migraine and osmophobia with patients having migraine but no osmophobia, in addition with a normal control group using "Sniffin' Sticks'' test. The main distinction of this study is that all qualitative and quantitative properties of olfactory functions; threshold, discrimination and identification, are evaluated separately and jointly. Thirty healthy person aged between 16 and 56 (18 women, 12 men) and 60 migraine patients aged between 15 and 54 (39 women, 21 man) were included in the study. All patients have been inquired about osmophobia and have been assessed with Hedonic tone assessment. Osmophobia has been tested for perfume, cigarette smoke, leather, stale food, soy sauce, fish, spices and coffee smells. Olfactory functions has been assessed with "Sniffin' Sticks'' smell test. Thresholds, discrimination and identification have been determined for each patient. In migraine patients with osmophobia, threshold was 7.75 +/- 2.3, in migraine patients without osmophobia threshold was 8.25 +/- 1.5 and threshold was 10.75 +/- 1.3 for the control group. Discrimination score was 6 +/- 1.2 in migraine patients with osmophobia, 9 +/- 0.8 in patients without osmophobia and was 12 +/- 1.4 in the control group. In migraine patient with or without osmophobia Threshold/Discrimination/Identification (TDI) scores were lower than the control group. The most important parameter in our study is that discrimination scores were especially lower in patients with osmophobia. We believe that this decrease in discrimination in migraine patients with osmophobia; who claim that they smell everything and they are sensitive to all smells, is significant. Further studies about smell discrimination will help better understand some conditions; especially anosmia and hyposmia after upper respiratory tract infections and parosmia.

Domestic violence (DV) against women is a serious problem with its negative effects on all family members and the society. Women exposed to DV not only have physical but also psychological damage. This study investigates prevalence of DV and its relations with some descriptive and clinical features in a psychiatric outpatient population in Turkey. A total of 277 female outpatients were included in the study. After a semistructured clinical interview, they were assessed by sociodemographic data form, DV questionnaire, Hamilton Depression Rating Scale (HDRS), Hamilton Anxiety Rating Scale (HARS), Dissociative Experiences Scale (DES), and Somatoform Dissociation Questionnaire (SDQ). Prevalence of exposure to DV by intimate partner is found to be 58.8% ( n = 163). The current study provided strong evidence that occupation status of the woman, education level of the partner, and family type are predictors of DV. Another predictor of DV exists where the child is battered by either parent. Prevalence of depression, conversion disorder, and other somatoform disorders are higher in women exposed to DV. These women also have higher scores from HDRS, HARS, DES, and SDQ compared with female patients who have not experienced DV ( p < .001). Number of women scoring above cutoff levels for DES and SDQ were significantly higher in women exposed to DV ( p < .001).

Background: Cognitions associated with craving and substance use are important contributors for the psychological theories of Substance use disorders (SUD), as they may affect the course and treatment. In this study, we aimed to validate Turkish version of two major scales 'Beliefs About Substance Use'(BSU) and 'Craving Beliefs Questionnaire'(CBQ) in patients with heroin use disorder and define the interaction of these beliefs with patient profile, depression and anxiety symptoms, with an aim to use these thoughts as targets for treatment. Methods: One hundred seventy-six inpatients diagnosed with heroin use disorder and 120 participants in the healthy comparison group were evaluated with CBQ, BSU, Beck Anxiety Inventory (BAI), Beck Depression Inventory (BDI) and sociodemographic data questionnaire. Patient group was also evaluated with Addiction Profile Index. Reliability and validity analysis for scales were conducted. Linear regression analysis was conducted to evaluate the determinants of BSU and CBQ scores. Results: Cronbach alpha level was 0.93 for BSU and 0.94 for CBQ. Patient group showed significantly higher CBQ, BSU, BAI and BDI scores (p < 0.001). BSU score significantly correlated with API-substance use profile score, API-diagnosis, BAI, BDI and CBQ (p < 0.005), whereas CBQ scores significantly correlated with API-diagnosis, API-impact on life, API-craving, API-total score, BSU, BAI, BDI and amount of cigarette smoking (p < 0.002). Number of previous treatments and age of onset for substance use were not correlated with either BSU or CBQ. BAI and BDI scores significantly predicted BSU score, however only BDI score predicted CBQ score (p < 0.003). Conclusions: Craving beliefs were highly correlated with addiction profile. Anxiety and depression are significant modulators for patients' beliefs about substance use and depression is a modulator for craving and maladaptive beliefs, validating emotion-cognition interplay in addiction., NA

Objective: The underlying genetic etiology of hypogonadotropic hypogonadism (HH) is heterogeneous. Fibroblast growth factor signaling is pivotal in the ontogeny of gonadotropin-releasing hormone neurons. Loss-of-function mutations in FGFR1 gene cause variable HH phenotypes encompassing pubertal delay to idiopathic HH (IHH) or Kallmann syndrome (KS). As FGFR1 mutations are common, recognizing mutations and associated phenotypes may enhance clinical management. Methods: Using a candidate gene approach, we screened 52 IHH/KS patients.Results: We identified three novel (IVS3-1G>C and p.W2X, p.R209C) FGFR1 gene mutations. Despite predictive null protein function, patients from the novel mutation families had normosmic IHH without non-reproductive phenotype.Conclusion: These findings further emphasize the great variability of FGFR1 mutation phenotypes in IHH/KS. Objective: The underlying genetic etiology of hypogonadotropic hypogonadism (HH) is heterogeneous. Fibroblast growth factor signaling is pivotal in the ontogeny of gonadotropin-releasing hormone neurons. Loss-of-function mutations in FGFR1 gene cause variable HH phenotypes encompassing pubertal delay to idiopathic HH (IHH) or Kallmann syndrome (KS). As FGFR1 mutations are common, recognizing mutations and associated phenotypes may enhance clinical management. Methods: Using a candidate gene approach, we screened 52 IHH/KS patients.Results: We identified three novel (IVS3-1G>C and p.W2X, p.R209C) FGFR1 gene mutations. Despite predictive null protein function, patients from the novel mutation families had normosmic IHH without non-reproductive phenotype.Conclusion: These findings further emphasize the great variability of FGFR1 mutation phenotypes in IHH/KS.

The aim of the present study was to present a case with secondary hydatid cysts in both uterus and colon. The patient was a 71-year-old female living in Hakkari, Turkey. She was admitted to the Van Yuzuncu Yil University Faculty of Medicine Medical Center with complaints of chronic abdominal and pelvic pain, and swelling in the abdomen. First, the sagittal T2 weighted magnetic rezonance imaging (MR) showed a type-3 cyst hydatid with daughter vesicles located at the posterior of uterus. Later, MR revealed a type-2 cystic lesion with detached membrane adhered to the anterior wall of colon and it was reported to be associated with abdomen. When the previous liver surgery history of the patient was kept in mind, the new finding was suggestive of a secondary cystic hydatid . In conclusion, it is possible to diagnose secondary cystic echinococcosis in patients with a history of primary cyst surgery in liver or any other organ by combining the symptoms and imaging findings.Bu çalışmanın amacı hem uterus hem de kolon yerleşimli bir sekonder hidatik kist olgusu sunmaktır. Hasta Hakkari’de yaşayan 71 yaşında bir kadındı. Van Yüzüncü Yıl Üniversitesi Dursun Odabaş Tıp Merkezi’ne kronik karın - pelvik bölge ağrısı ve karın şişliği şikayeti ile başvurdu. İlk olarak, sagittal T2 ağırlıklı manyetik rezonans (MR) görüntülerinde, uterus posteriorunda kız veziküllerin bulunduğu tip-3 kist hidatik saptandı. Daha sonraki MR’de, kolonun ön duvarına yapışmış ve karın ile ilişkili olduğu bildirilen ayrık membranlı tip-2 kistik bir lezyon ortaya çıkarıldı. Hastanın daha önce karaciğer cerrahisi öyküsü olması nedeniyle, olgu sekonder kistik hidatik olarak kabul edildi. Sonuç olarak, karaciğerde veya başka bir organda primer kist cerrahi öyküsü olan hastalarda semptomları ve görüntüleme bulgularını birleştirerek sekonder kistik ekinokokkozis tanısı koymak mümkündür.

Anti-cancer treatment in children can deteriorate gonadal function and affect future fertility. We analyzed the hormonal markers of gonadal function in adolescent leukemia survivors, treated in childhood with different levels of aggressiveness. We analyzed hormone levels in 69 adolescents and young adults, leukemia survivors stratified into standard (SR), intermediate (IR), and high (HR) risk groups, and in 80 healthy controls (38 men) at a similar age. We assessed follicular stimulating hormone (FSH), luteinizing hormone (LH), and inhibin B in the whole group, testosterone in males, and E2 and anti-Mullerian hormone (AMH) in females. Males classified into HR group presented, in comparison to control, higher levels of FSH, LH, lower inhibin B, and normal testosterone, whereas in SR and IR group, the hormonal values were comparable to the control. In females, in all risk groups, the levels of FSH, LH, E2, and inhibin B were comparable with the control, but the mean AMH levels were slightly lowered. We did not observe the effect of prophylactic cranial irradiation (12 or 18 Gy) or the time of treatment (before vs. during puberty) on hormone levels. In females, a positive correlation was found between the time interval after the end of treatment and AMH levels. Male leukemia survivors having undergone more intensive chemotherapy show the symptoms of disturbed spermatogenesis and need to be followed-up in the future. Women, irrespective of the risk group, can develop the signs of preterm ovarian insufficiency. They should be informed about the impact of the treatment on gonadal function.

Objective Orexins are hypothalamic neuropeptides that are involved in feeding, neuroendocrine regulation, sleep-wakefulness and sleep disorders (such as narcolepsy). This study investigated the relationship between serum and cerebrospinal fluid (CSF) orexin-A concentrations and infarct volume, in patients with ischaemic stroke. Methods Serum and CSF concentrations of orexin-A were determined 48–72 h after the onset of ischaemic stroke in patients, then compared with those of healthy control subjects of comparable age. Infarct volumes were measured using computerized tomography, 48–72 h after hospitalization. Results Mean serum and CSF orexin-A concentrations were significantly lower among ischaemic stroke patients ( n = 29) compared with control subjects ( n = 13). There was a significant inverse correlation between infarct volumes and CSF orexin-A concentrations in patients with ischaemic stroke. Conclusion These data show that serum and CSF orexin-A concentrations decrease after cerebral ischaemia and may play a role in the development of brain injury. The orexin-A concentration in the CSF might be a useful biomarker for the assessment of progression of brain tissue damage during the early stages of ischaemic stroke.

Introduction Autoimmune neurological syndrome is a group of disorders caused by cancer affecting nervous system by different immunological mechanisms. In this study, we aim to study the clinical symptoms, cerebrospinal fluid (CSF) findings, autoantibody tests, computed tomography (CT), magnetic resonance imaging (MRI) signs and treatment outcome of patients with autoimmune syndromes. Methods In this study, 7 patients (4 male, 3 female) diagnosed with autoimmune neurological syndrome were retrospectively examined. Results Five of patients were diagnosed with limbic encephalitis, two of them were paraneoplastic cerebellar degeneration. Confusion and seizure were the most seen symptoms. Two patients had psychiatric disturbances (28,5%) followed by seizure. Headache was seen in 2 patients (% 28,5), disartria in 1 patient (% 14,2), and gait disorder in 2 patients (28,5%). The duration of symptoms was 46 (3–150) days on average. CSF abnormalities were detected in 2 patients. CT and MRI of the brain was available in all patients. Five patients had involvement of mesiotemporal region, two patients had diffuse cerebellar atrophy. One of patients had anti-GABAR B1 positivity. Tumors were detected in 2 patients while investigation for paraneoplasia screening. Conclusion Remission is only possible with the detection and treatment of the malignancy. Early diagnosis and treatment are of paramount importance.

This study aims to identify the help seeking behaviours of patients from two geographically distinct provinces of Turkey. A questionnaire about sociodemographic characteristics and help seeking ways was applied to 49 schizophrenia patients from Van, 99 from Ankara. The ratio of patients seeking psychiatric help at the beginning of their illness was 76% in Ankara, the capital city, in contrast to 54% in Van (p = 0.01). Twenty-two percent of patients from Ankara and 69% from Van reported that non-psychiatric help seeking was the choice of their families (p

Afferent somatosensory information is modulated before the afferent input arrives at the primary somatosensory cortex during voluntary movement. The aim of the present study was to clarify the effect of muscular contraction strength on somatosensory evoked fields (SEFs) during voluntary movement. In addition, we examined the differences in gating between innervated and non-innervated muscle during contraction. We investigated the changes in gating effect by muscular contraction strength and innervated and non-innervated muscles in human using 306-channel magnetoencephalography. SEFs were recorded following the right median nerve stimulation in a resting condition and during isometric muscular contractions from 10 % electromyographic activity (EMG), 20 and 30 % EMG of the right extensor indicis muscle and abductor pollicis brevis muscle. Our results showed that the equivalent current dipole (ECD) strength for P35m decreased with increasing strength of muscular contraction of the right abductor pollicis brevis muscle. However, changes were observed only at 30 % EMG contraction level of the right extensor indicis muscle, which was not innervated by the median nerve. There were no significant changes in the peak latencies and ECD locations of each component in all conditions. The ECD strength did not differ significantly for N20m and P60m regardless of the strength of muscular contraction and innervation. Therefore, we suggest that the gating of SEF waveforms following peripheral nerve stimulation was affected by the strength of muscular contraction and innervation of the contracting muscle.

WOS: 000378169400002, PubMed ID: 27086651, Objective: What initiates the pubertal process in humans and other mammals is still unknown. We hypothesized that gene(s) taking roles in triggering human puberty may be identified by studying a cohort of idiopathic hypogonadotropic hypogonadism (IHH). Methods: A cohort of IHH cases was studied based on autozygosity mapping coupled with whole exome sequencing. Results: Our studies revealed three independent families in which IHH/delayed puberty is associated with inactivating SRA1 variants. SRA1 was the first gene to be identified to function through its protein as well as noncoding functional ribonucleic acid products. These products act as co-regulators of nuclear receptors including sex steroid receptors as well as SF-1 and LRH-1, the master regulators of steroidogenesis. Functional studies with a mutant SRA1 construct showed a reduced co-activation of ligand-dependent activity of the estrogen receptor alpha, as assessed by luciferase reporter assay in HeLa cells. Conclusion: Our findings strongly suggest that SRA1 gene function is required for initiation of puberty in humans. Furthermore, SRA1 with its alternative products and functionality may provide a potential explanation for the versatility and complexity of the pubertal process., Scientific and Technological Research Council of Turkey (TUBITAK)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [113S962]; Cukurova University Scientific Research ProjectsCukurova University; Canadian Breast Cancer Foundation; Medical Research CouncilMedical Research Council UK (MRC) [MR/L01629X/1], This work was supported by the Scientific and Technological Research Council of Turkey (TUBITAK) (Project no: 113S962) and by the Cukurova University Scientific Research Projects. The Laboratory of EL is currently funded by the Canadian Breast Cancer Foundation.

Objective To determine the prenatal psychologic (anxiety and depression) and perinatal obstetric (pregnancy and labor complications) predictors of postpartum depression (PPD) in late-term pregnancies. Materials and methods A total of 149 women with late-term gestation who were hospitalized for antenatal fetal surveillance were included. All participants were asked to complete Hospital Anxiety and Depression Scale immediately after hospitalization and Edinburgh Postnatal Depression Scale in the postpartum period. Demographic, psychologic, and obstetric variables were tested as predictors of PPD by regression analysis. Results High scores for prenatal anxiety, depression, and PPD were detected in 17.4%, 12.8%, and 23.5% of the participants, respectively. The mode of delivery was not associated with PPD for late-term pregnancies. Women having urgent cesarean, planned cesarean, and vaginal delivery had similar rates of PPD (28.1%, 23.8%, and 21.9%, respectively). In the multivariant analysis, prenatal depression [odds ratio (OR), 9.85; 95% confidence interval (CI), 2.72–35.65], prenatal anxiety (OR, 4.95; 95% CI, 1.59–15.39) and suspicion of fetal distress (OR, 4.44; 95% CI, 1.13–13.64) were found to be independent predictors of PPD. Conclusion For late-term pregnancies, women with prenatal anxiety or depression and had cesarean delivery due to the suspicion of fetal distress were at risk for PPD.

Background/aim To evaluate psychological parameters and health quality profiles in women with reproductive polycystic ovary syndrome (PCOS) phenotypes and age matched controls. Materials and methods The study groups included 101 women with PCOS (54 with the National Institutes of Health [NIH] phenotype and 47 with the non-NIH phenotype) and 49 healthy female controls. The participants completed anxiety and depression scales and four quality of life domains. Results We identified the women with PCOS as having a 3.39 times increased risk for depression (subscale g 7) and a 3.64 times increased risk for anxiety (subscale g 10) compared to the controls. Both NIH and non-NIH phenotypes showed similar rates of depression (46.3% vs. 46.8%, respectively; P = 0.57) and anxiety (31.5% vs. 36.2%, respectively; P = 0.47). Regarding the quality of life scale, the women with NIH PCOS had significantly lower mental health scores compared to those with non-NIH PCOS (P = 0.03). Furthermore, while mental health scores were similar in the women with PCOS and the controls, physical health scores were significantly lower in the women with PCOS (P = 0.007). Conclusion Nearly half of the women with PCOS had higher depression scores and one third had higher anxiety scores. Thus, psychiatric evaluations appear necessary for PCOS patients in order to diagnose and treat clinical depression and anxiety.

The aim of this study is to determine the usefulness of Orexin-A levels in differentiating between epileptic seizures and psychogenic non-epileptic seizures in patients presenting to the emergency service with epileptic seizure-type symptoms.A total of 80 individuals were included in this study, including 59 who presented to the emergency service within the first four hours of having been diagnosed with generalized tonic-clonic seizures (39 with epileptic seizures (ES) and 20 with pseudoseizures (PNES) and 21 controls. Orexin-A levels were measured in venous blood samples.The mean Orexin-A levels were 5.16 ng/mL in the control group, 7.17 ng/mL in the PNES group, and 11.08 ng/mL in the ES group (Table 1). The mean Orexin-A level of the ES group was significantly different from both the control group and the PNES group (Table 1, p 0.001); the difference between the control group and the PNES group was not significant (p 0.05).Results of this study suggest that blood Orexin-A may be an effective biomarker in the differential diagnosis of epileptic seizures/psychogenic non-epileptic seizures in patients presenting to the emergency service with an epileptic seizure-type clinical picture.

PubMedID: 25681989 The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases. Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey. No SOD1 mutations were detected in sALS patients; however, C9orf72 (3.1%) and UBQLN2 (0.6%) explained 3.7% of sALS in the population. Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel. The spectrum of mutations reflect both the distinct genetic background and the heterogeneous nature of the Turkish ALS population. © 2015 Elsevier Inc. 99HB0101 02OB0101 04B101D 08HB102 10B01P8 11B01P6 TUBITAK-SBAG2007 COST-TUBITAK-SBAG2007 TUBITAK-EVRENA-SBAG2009 British Association for Psychopharmacology This study was supported by Suna and İnan Kıraç Foundation (SVIKV) (2005–2008, 2008–2011, 2011–2014) , Bogazici University (Grant number 99HB0101 02OB0101 04B101D 08HB102 10B01P8 11B01P6) Research Funds (BAP), and The Scientific and Technological Research Council of Turkey (TUBITAK-SBAG2007 COST-TUBITAK-SBAG2007 TUBITAK-EVRENA-SBAG2009) . We gratefully acknowledge their generous contributions. We thank Ilknur Yıldız, Selda Dağdeviren, Irmak Şahbaz, Alireza Khodadadi Jamayran, Helena Alstermark, and Anna Birve for their excellent technical assistance. We extend our thanks to Professor Jeffrey D. Macklis (Harvard Medical School, MA, USA) and Professor Peter Andersen (Umea University, Umea, Sweden) for their constructive contributions to this study; to Professor Coşkun Özdemir and Dr Sevtap Savaş for the critical reading of the manuscript; and to Cemile Koçoğlu, Fulya Akçimen, and Hamid Hamzeiy for their assistance in the preparation of the figures and tables. Last but not least, we cordially thank our patients, their families, and the Turkish ALS Association for their invaluable cooperation. This study is dedicated to the memory of our esteemed collaborator Dr Hilmi Özçelik, who passed away on May 2, 2013. Appendix A

Choroid plexus is an intraventricular plexus of tissue which is responsible for secretion of cerebrospinal fluid. Calcification of choroid plexus is found to be associated with age and gender. One of novel and popular glycoprotein that involves in inhibition of mineralization is human fetuin-A. In our study, we investigated plasma levels of fetuin-A in subjects with and without choroid plexus calcification. For this purpose, 41 subjects with choroid plexus calcification and 41 age and gender matched subjects with normal appearing choroid plexus were recruited. Calcified and normal choroid plexus tissue identified on computed tomography images. Overnight fasting venous blood samples were collected to measure serum fetuin-A levels using a human fetuin-A enzyme-linked immunosorbent assay kit. Statistically significant difference concerning the median concentration of fetuin-A was found between subjects with and without choroid plexus calcification (p: 0.040). Significance was also present between male subgroups (p: 0.017) and 18-27 years age subgroups (p: 0.025). Our results suggest that fetuin-A has an potent role in calcification process of choroid plexus. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

Purpose - The purpose of this study is to determine the diagnosis- and treatment-related characteristics in Guillain-Barré syndrome (GBS) and to evaluate the effects of early intravenous immunoglobulin (IVIg) treatment on disability, mortality and prognosis. Materials and methods - Adult patients who were diagnosed with GBS in our clinic between January 2000 and January 2014 were retrospectively scanned. While the patients undergoing IVIg treatment were included in the study, the other neuropathic diseases were excluded. Patients were divided into two groups based on the administration time of the IVIg treatment; Group 1 (7 days) and Group 2 (≥ 7 days) Group 1 consisted of patients undergoing IVIg treatment within 7 days after presentation of symptoms and Group 2 consisted of patients undergoing IVIg treatment on and after 7th day following presentation of symptoms. The scores from Hughes Functional Grading Scale (HFGS) on admission and one month laterwere recorded in all patients in order to evaluate the disability and prognosis in terms of demographic and clinical laboratory characteristics. Results - In this study, 49 GBS patients were included (31 patients in Group 1 and 18 patients in Group 2). Demyelinating form of GBS was determined in 22 (44.8%) patients.). While there was no difference between both groups (p: 0.288, p: 0.762, p: 0.693 respectively) in terms of intensive care and rehabilitation requirement and progression, only 2 patients in Group 1 died. While HFGS mean score on admission in all the patient groups was 3.27±0.974, their HFGS mean score at month 1 was 2.53±1.226. There was no difference between the groups in terms of HFGS mean scores on admission and at month 1. Within each groups, there was a significant improvement between initial (on admission) HFGS scores and HFGS scores acquired at month 1. Conclusion - In this study, demyelinating form was more frequent than axonal form. A total of 2 g/kg dose of IVIg treatment administered for 5 days as a standard in GBS patients ensured a significant improvement on both disability and early and late administration and early administration of the treatment does not lead to any difference in intensive care unit and rehabilitation requirements.Célkitűzés - A vizsgálat célja a Guillain-Barré-szindrómában (GBS) szenvedő betegek diagnózis- és kezelésfüggő jellemzőinek meghatározása, továbbá a korai szakaszban alkalmazott intravénás immunglobulin (IVIg) -kezelés állapotalakulásra, mortalitásra és prognózisra gyakorolt hatásának értékelése. Betegek és módszerek - Klinikánkon 2000 januárja és 2014 januárja között diagnosztizált, GBS-ben szenvedő fel-nőttek adatainak retrospektív áttekintését végeztük el. Az IVIg-kezelésben részesülteket bevontuk a vizsgálatba, kizártuk viszont az egyéb neuropathiás betegségekben szenvedőket. A résztvevőket az IVIg-kezelés alkalmazásának időtartama alapján két csoportba soroltuk: az 1. csoport7 napon át kapta, a 2. csoport hét vagy több napig. Az első csoport olyanokból állt, akik az IVIg-kezelést a tünetek jelentkezésétől számított hét napon belül kapták, míg a 2. csoport betegeinél a 7. napon vagy később kezdődött el a kezelés. A kórházi felvételkor, majd egy hónappal később ismét feljegyzett HFGS- (Hughes Functional Grading Scale) pontszám alapján értékeltük az állapotalakulást és a prognózist, a demográfiai és a laboratóriumi jellemzők figyelembevételével. Eredmények - Összesen 49 GBS-beteget vontunk be (31 fő az 1. csoportban, 18 fő a 2. csoportban). A GBS demielinizáló formáját 22 betegnél (44,8%) állapítottuk meg. A két csoport között nem volt különbség az intenzív ellátás (p=0,288), a rehabilitációs kezelés iránti igény (p=0,762) és a progresszió (p=0,693) között, haláleset csak az 1. csoportban történt két fő esetében. A felvételkor a HFGS-pontszám összes betegre vonatkozó átlagértéke 3,27±0,974 volt, egy hónap elteltével pedig 2,53±1,226. A csoportok között nem mutatkozott különbség a HFGS-pontszám átlagában sem a felvételkor, sem 1 hónap elteltével. Mindkét csoportban szignifikáns mértékű javulást észleltünk a kezdeti (felvételkor rögzített) és az 1 hónappal későbbi HFGS-pontszám között. Következtetés - Vizsgálatunkban a GBS demielinizáló formája gyakoribb volt az axonális formánál. A GBS-ben szenvedőknek standard kezelésként 2 g/kg összdózisban, öt napon át adott IVIg-kezelés szignifikáns mértékben javította az állapot alakulását mindkét formában, és mindkét (korai és késői kezdetű) alkalmazási mód esetén. A kezelés korai megkezdése nem eredményezett különbséget az intenzív kezelési és a rehabilitációs igények tekintetében.

We investigated the effects of different patterns of mechanical tactile stimulation (MS) on corticospinal excitability by measuring the motor-evoked potential (MEP). This was a single-blind study that included nineteen healthy subjects. MS was applied for 20 min to the right index finger. MS intervention was defined as simple, lateral, rubbing, vertical, or random. Simple intervention stimulated the entire finger pad at the same time. Lateral intervention stimulated with moving between left and right on the finger pad. Rubbing intervention stimulated with moving the stimulus probe, fixed by protrusion pins. Vertical intervention stimulated with moving in the forward and backward directions on the finger pad. Random intervention stimulated to finger pad with either row protrudes. MEPs were measured in the first dorsal interosseous muscle to transcranial magnetic stimulation of the left motor cortex before, immediately after, and 5–20 min after intervention. Following simple intervention, MEP amplitudes were significantly smaller than preintervention, indicating depression of corticospinal excitability. Following lateral, rubbing, and vertical intervention, MEP amplitudes were significantly larger than preintervention, indicating facilitation of corticospinal excitability. The modulation of corticospinal excitability depends on MS patterns. These results contribute to knowledge regarding the use of MS as a neurorehabilitation tool to neurological disorder.

PubMedID: 29582446 Background and Aim: Hypoaldosteronism is associated with either insufficient aldosterone production or aldosterone resistance (pseudohypoaldosteronism). Patients with aldosterone defects typically present with similar symptoms and findings, which include failure to thrive, vomiting, hyponatremia, hyperkalemia and metabolic acidosis. Accurate diagnosis of these clinical conditions therefore can be challenging. Molecular genetic analyses can help to greatly clarify this complexity. The aim of this study was to obtain an overview of the clinical and genetic characteristics of patients with aldosterone defects due to biosynthesis defects or aldosterone resistance. Design and Patients: We investigated the clinical and molecular genetic features of 8 consecutive patients with a clinical picture of aldosterone defects seen in our clinics during the period of May 2015 through October 2017. We screened CYP11B2 for aldosterone synthesis defects and NR3C2 and the three EnaC subunits (SCNN1A, SCNN1B and SCNN1G) for aldosterone resistance. Results: We found 4 novel and 2 previously reported mutations in the genes CYP11B2, NR3C2, SCNN1A and SCNN1G in 9 affected individuals from 7 unrelated families. Conclusion: Molecular genetic investigations can help confidently diagnose these conditions and clarify the pathogenicity of aldosterone defects. This study may expand the clinical and genetic correlations of defects in aldosterone synthesis or resistance. © 2018 John Wiley & Sons Ltd

PubMedID: 29178422 Loss-of-function DCAF17 variants cause hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness with variable clinical presentation. DCAF17 pathogenic variants have been largely reported in the Middle Eastern populations, but the incidence in American families is rare and animal models are lacking. Exome sequencing in 5 women with syndromic hypergonadotropic hypogonadism from 2 unrelated families revealed novel pathogenic variants in the DCAF17 gene. DCAF17 exon 2 (c.127-1G > C) novel homozygous variants were discovered in 4 Turkish siblings, while 1 American was compound heterozygous for 1-stop gain variant in exon 5 (c.C535T; p.Gln179*) and previously described stop gain variant in exon 9 (c.G906A; p.Trp302*). A mouse model mimicking loss of function in exon 2 of Dcaf17 was generated using CRISPR/Cas9 and showed female subfertility and male infertility. Our results identify 2 novel variants, and show that Dcaf17 plays a significant role in mammalian gonadal development and infertility. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

Plasma levels of the oxidants xanthine oxidase, nitric oxide and malondialdehyde and the antioxidants superoxide dismutase, glutathione peroxidase and glutathione reductase, together with total superoxide scavenger activity and non-enzymatic superoxide scavenger activity, were determined in 19 patients with acute ischaemic stroke and 20 controls. Compared with controls, superoxide dismutase, total superoxide scavenger activity, glutathione peroxidase and glutathione reductase activities were significantly lower, and nitric oxide and malondialdehyde levels significantly higher, in acute stroke patients. Xanthine oxidase showed a slight but non-significant increase in stroke patients compared with controls. There was no significant difference in non-enzymatic superoxide scavenger activity between the two groups. There was a positive correlation between glutathione reductase levels and Glasgow Coma Scale scores, and a negative correlation between malondialdehyde levels and non-enzymatic superoxide scavenger activity. These findings suggest that oxidative stress in patients with acute ischaemic stroke may be the result of an imbalance in oxidant/antioxidant homeostasis.

The aim of this study was to investigate the effects of cathodal transcranial direct current stimulation (tDCS) applied over the primary somatosensory cortex (S1) on short-interval afferent inhibition (SAI). Thirteen healthy individuals participated in this study. Cathodal tDCS was applied for 15 min at 1 mA over the left S1. Motor-evoked potentials (MEPs) were measured from the right first dorsal interosseous muscle in response to transcranial magnetic stimulation (TMS) of the left motor cortex before tDCS (pre), immediately after tDCS (immediately), and 15 min after tDCS (post-15 min). SAI was evaluated by measuring MEPs in response to TMS pulses applied 40 ms after peripheral electrical stimulation of the index finger. For each measurement period (pre, immediately, and post-15 min), MEP amplitude was significantly smaller when TMS followed index finger stimulation (SAI condition) than when TMS was delivered alone (single TMS) (P

Objective We hypothesized that comparison of the serum brain-derived neurotrophic factor (BDNF) levels between women with premenstrual dysphoric disorder (PMDD) and women without PMDD in the luteal and follicular phases of their menstrual cycles would reflect the altered neuromodulator responses that compensate the underlying pathogenesis in PMDD. Method Twenty-nine participants without PMDD and 20 with PMDD were enrolled in the study. The serum BDNF, estrogen and progesterone levels were assessed at the follicular and luteal phases in their two consecutive menstrual cycles. Results Participants with PMDD had significantly higher luteal serum BDNF levels than the control subjects. The serum BDNF levels were significantly higher in the luteal phase than in the follicular phase in women with PMDD. The difference in the serum BDNF levels between the luteal and follicular phases were significantly higher in the PMDD patients than in the control. Conclusions The higher serum BDNF levels in the luteal phase in the PMDD patients may reflect compensatory process that results in subsequent improvement of the PMDD-associated depressive symptoms in the follicular phase. The higher difference in the serum BDNF levels between the phases in PMDD patients may reflect an altered neuromodulator response.

The diaphragm pacing system (DPS) is a life quality improving operation in amyotrophic lateral sclerosis (ALS) patients who need mechanical ventilation or have chronic respiratory insufficiency. This procedure is gaining in popularity, and the number of centers implanting diaphragm pacing systems (DPS) is increasing. DPS delays the need for a ventilation machine in the early stages of Amyotrophic lateral sclerosis (ALS) disease. In this case study, we present a young female ALS patient. A DPS was implanted after respiratory insufficiency began. In the one-year follow-up period following her operation, her need for ventilatory support disappeared.

WOS: 000396361900004, PubMed ID: 28251020, Background: Environmental habitat may play a role in clinical disparities of primary hyperparathyroidism (pHPT) patients. Aims: To compare preoperative clinical symptoms and associated conditions and surgical findings in patients with pHPT, living in different geographical regions from the Black Sea, Mediterranean and Anatolia regions. Study Design: Retrospective, clinical-based multicentric study of 694 patients with pHPT. Methods: Patients from 23 centers and 8 different geographical regions were included. Data related to baseline demographics, clinical, pathologic and treatment characteristics of 8 regions were collected and included age, gender, residential data, symptoms, history of fracture, existence of brown tumor, serum total Ca and p levels, serum parathormone (PTH) levels, serum 25-OH vitamin D levels, bone mineral density, size of the resected abnormal parathyroid gland(s), histology, as well as the presence of ectopia, presence of dual adenoma, and multiple endocrine neoplasia (MEN)- or familial-related disease. Results: The median age was 54. Asymptomatic patient rate was 25%. The median PTH level was 232 pg/mL and serum total Ca was 11.4 mg/dL. Eighty-seven percent of patients had an adenoma and 90% of these had a single adenoma. Hyperplasia was detected in 79 patients and cancer in 9 patients. The median adenoma size was 16 mm. Significant parameters differing between regions were preoperative symptoms, serum Ca and p levels, and adenoma size. All patients from South-East Anatolia were symptomatic, while the lowest p values were reported from East Anatolia and the largest adenoma size, as well as highest Ca levels, were from Bulgaria. Conclusion: Habitat conditions vary between geographical regions. This affects the clinicopathological features of patients with pHPT.

Background Several studies have been conducted on the inflammatory aspects of migraine. Pentraxins are a novel and important part of innate immunity as a superfamily of acute phase proteins. In our study, we aimed to demonstrate the relationship between migraine and the serum levels of pentraxin-3 (PTX-3), C-reactive protein (CRP), fibrinogen and D-dimer. Methods We recruited 30 migraine patients (in both the attack and interictal period) and 30 healthy controls. Serum samples were obtained from all participants, and a brain MRI performed in the last six months was assessed regarding the presence of deep white matter lesions. Comparisons between the attack, interictal and control groups regarding the serum levels of PTX-3, CRP, fibrinogen and D-dimer were performed. The association between serum PTX-3 levels and migraine characteristics (disease duration, headache frequency, MRI findings, aura, family history, attack duration, and MIDAS score) was also assessed. Results We found higher serum levels of fibrinogen and PTX-3 in migraine attack patients compared with the interictal and control groups ( p = 0.03 and p Conclusions PTX-3 and fibrinogen exhibit different serum levels in patients undergoing a migraine attack compared with the interictal group and the controls. Participants with longer attacks and disease durations have lower serum levels of PTX-3, suggesting that inflammatory processes change along with disease progression.

Background The patients with schizophrenia are at increased risk for problems regarding metabolic parameters due to their lifestyle and antipsychotic treatment. Objective In this study, we aimed to evaluate the levels of adiponectin, leptin, irisin in patients with schizophrenia who were nondiabetic, nonobese and under antipsychotic treatment. Method 5 ml sample of venous blood was collected from each participant. Blood cells were separated from the serum. The serum samples were stored in a -80°C freezer. Biochemical analyses were performed on these samples. Adiponectin, leptin and irisin levels were measured by Enzyme Linked Immunosorbent Assay method. Results The study included 88 subjects. Of them, 44 were patients with schizophrenia and 44 were healthy controls. There were no statistically significant results when the c-reactive protein, adiponectin, leptin and irisin levels were compared between the schizophrenia and the control group (p>0.05). Conclusion In our study, adiponectin, leptin and irisin levels in patients with schizophrenia did not present a statistically significant difference from healthy controls. Therefore, there is a need for studies including more participants to investigate the level of irisin in patients with schizophrenia.

Bipolar disorder (BD) patients have increased oxidative stress, which can disturb thiol/disulphide homeostasis, causing disulphide formation. The aim of the study is to investigate dynamic thiol/disulphide (SH/SS) homeostasis in BD patients, which is a novel evaluation method of oxidative status. Ninety-four BD patients (50 in the manic episode and 44 in remission) and 44 healthy controls were included in the study. Blood serum native thiol (SH) and total thiol (ToSH) concentrations were measured in a paired test. The half value of the difference between native thiol and total thiol concentrations was calculated as the disulphide (SS) bond amount. Serum native thiol levels of the mania group were found to be lower than the remission and the control groups. There was a significant difference between the remission group and the control group in terms of native thiol. Serum total thiol level was lower in mania group than the control group. Detection of oxidative molecules for BD could be helpful, especially in treatment, follow-up periods and reducing morbidity. The results of our study besides the data available in the literature support that thiol and disulphide levels are useful markers for BD and promising therapeutic targets in terms of future pharmacological modulation.

Objectives To assess nasal cycle, nasal mucosal pH and mucociliary clearance time in patients with Parkinson’s disease and healthy control subjects. Methods Patients with idiopathic Parkinson’s disease and healthy control subjects were recruited. Presence of the nasal cycle, nasal mucosa pH and mucociliary clearance time were investigated in all participants. Results The study included 27 patients and 24 control subjects. The nasal cycle was present in significantly fewer patients than controls. Nasal pH and mucociliary clearance time were significantly higher in patients than in controls. Conclusions Parkinson’s disease is associated with alterations in nasal cycle, nasal mucosa pH and mucociliary clearance time. Measurements of these nasal parameters may be useful for the early diagnosis of autonomic and olfactory dysfunction in Parkinson’s disease.

PubMedID: 28324054 Context: Gonadotropin-releasing hormone neurons originate outside the central nervous systemin the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of thismigration can lead to idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons. Objective: The aim of this study was to further describe the phenotype and prevalence of CCDC141 mutations in IHH/KS. Design: Using autozygosity mapping, candidate gene screening, whole-exome sequencing, and Sanger sequencing, those individuals carrying deleterious CDCD141 variants and their phenotypes were determined in a cohort of 120 IHH/KS families. Patients and Interventions: No interventions were made. Results: Our studies revealed nine affected individuals from four independent families in which IHH/ KS is associated with inactivating CCDC141 variants, revealing a prevalence of 3.3%. Affected individuals (with the exception of those fromfamily 1 who concomitantly have FEZF1mutations) have normal olfactory function and anatomically normal olfactory bulbs. Four affected individuals show evidence of clinical reversibility. In three of the families, there was at least one more potentially deleterious variant in other known puberty genes with evidence of allelic heterogeneity within respective pedigrees. Conclusions: These studies confirm that inactivating CCDC141 variants cause normosmic IHH but not KS. This is consistent with our previous in vitro experiments showing exclusively impaired embryonic migration of GnRH neurons upon CCDC141 knockdown. These studies expand the clinical and genetic spectrum of IHH and also attest to the complexity of phenotype and genotype in IHH. Copyright © 2017 Endocrine Society. National Institutes of Health National Institute of Neurological Disorders and Stroke: NS002824-25/26 4579 National Council for Scientific Research: 113S962 This work was supported by the Scientific and Technological Research Council of Turkey project number 113S962, the Cukurova University scientific research project number 4579, and the Intramural Research Program of the National Institutes of Health, National Institute of Neurologic Disorders and Stroke Grant NS002824-25/26 (to B.I.H. and S.W.). Disclosure Summary: The authors have nothing to

Summary Objective: To investigate whether the diagnosis of acute appendicitis is affected by pregnancy or not. Method: A retrospective study with the analysis of the medical records of all women suspected of having appendicitis who underwent appendectomy at our hospital between June 2010 and March 2015 were reviewed. The patients were divided into two groups according to whether they were pregnant or not during the surgery: group I, pregnant women, and group II, non-pregnant women. Results: During the study period, 38 pregnant women and 169 non-pregnant women underwent appendectomy. The time from admission to the operation was not statistically different (2.17±1.47 days in group I vs. 1.98±1.66 day in group II; p=0.288). The pregnant group had longer hospital stay than the non-pregnant group (p=0.04). Ultrasonography (USG) was used as the first diagnostic modality in 36/38 patients in group I and 161/169 in group II. The non-visualized appendix on ultrasound was seen in 17 patients in group I and 51 patients in group II, which was not statistically different. Sensitivity and specificity of USG in diagnosis of acute appendicitis were 61.29 and 80.00% in group I, and 93.0 and 31.6% in group II, respectively. Conclusion: Although the diagnosis of appendicitis in pregnant women is not delayed, careful assessment of these patients suspected of having appendicitis should be encouraged when USG examination is normal or nondiagnostic. Resumo Objetivo: investigar se o diagnóstico de apendicite aguda é afetado por gravidez ou não. Método: estudo retrospectivo com análise dos prontuários médicos de todas as mulheres que tiveram suspeita de apendicite e foram submetidas à apendicectomia em nosso hospital entre junho de 2010 e março de 2015. As pacientes foram divididas em dois grupos, de acordo com a presença de gravidez durante a cirurgia: grupo I, mulheres grávidas; grupo II, mulheres não grávidas. Resultados: durante o período do estudo, 38 mulheres grávidas e 169 mulheres não grávidas foram submetidas à apendicectomia. O tempo desde a internação até a cirurgia não foi estatisticamente diferente (2,17±1,47 dias no grupo I vs. 1,98±1,66 dia no grupo II, p=0,288). O grupo das grávidas apresentou uma estadia hospitalar mais longa que o grupo das não grávidas (p=0,04). A ultrassonografia foi usada como primeira modalidade de diagnóstico em 36/38 pacientes no grupo I e em 161/169 no grupo II. O apêndice não visualizado na ultrassonografia foi visto em 17 pacientes no grupo I e 51 pacientes no grupo II, e não foi estatisticamente diferente. A sensibilidade e especificidade da ultrassonografia no diagnóstico de apendicite aguda foram 61,29 e 80,00% no grupo I e 93,0 e 31,6% no grupo II, respectivamente. Conclusão: embora o diagnóstico de apendicite em mulheres grávidas não seja protelado, recomenda-se uma avaliação cuidadosa quando o exame de ultrassonografia for normal ou não diagnóstico nessas pacientes.

The aim of the present study was to review cases that required surgical intervention to remove ingested foreign bodies.Medical records of 7 patients who underwent surgical intervention at the Yüzüncü Yıl University Department of General Surgery between 2009 and 2014 after ingesting foreign bodies were reviewed.Female:male ratio was 5:2; mean age was 25 (16-35). Four patients had swallowed pins, 1 patient had swallowed a sewing pin, 1 patient had swallowed a safety pin, and 1 patient had swallowed a wristwatch. The patient who had swallowed the wristwatch had psychiatric disorders. All other patients stated that they had swallowed the objects by accident.Most ingested foreign bodies pass smoothly through the gastrointestinal (GI) tract within a week, but those that migrate out of the lumen require surgical intervention due to complications including perforation, abscess, fistula, and peritonitis. Early diagnosis and intervention is crucial to reduce morbidity and mortality. It is believed that sharp and pointed objects that migrate outside of the lumen ought to be removed, lest they cause complications.