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OBJECTIVE: The current study aimed to examine the psychiatric symptoms that can be seen in fibromyalgia (FM) patients, their attitudes toward seeking psychological help, and their concerns about stigma. Besides, it was investigated whether the stigma concerns that they may experience about receiving psychiatric treatment constitute an obstacle for patients to receive psychiatric treatment. SUBJECTS AND METHODS: This cross-sectional descriptive study was conducted between February and July 2020. Various seeking help were measured with Attitude Towards Seeking Psychological Help Scale-Short Form (ATSPPHSF), Self-Stigma in the Process of Seeking Psychological Help Scale (SSPSPHS), Intention to Seek Psychological Help Inventory (ISPHI), and Social Stigma Due to Seeking Psychological Help Scale (SSDSPHS). FM symptoms of patients were measured with The Symptom Screening Questionnaire, Revised 90 Items (SCL-90-R). Quality-of-life parameters were measured with Fibromyalgia Impact Questionnaire (FIQ). RESULTS: Fibromyalgia patients had higher somatization (p=0.001), psychotism (p=0.045) and phobic anxiety (p=0.015) scores than controls. The ATSPPH-SF (p=0.002) and SSPSPHS (p=0.043) scale scores of the FM patients were higher than the controls. There was a significant positive correlation between FIQ and SSPSPHS (r=0.288, p=0.043) and SCL-90 overall (r=0.602, p<0.001) and all subscales scores. Patients with high active psychotic symptom levels had higher FM exposure scale scores and SCL-90 overall scores than those with low active psychotic symptom levels (p<0.001). CONCLUSIONS: The findings of this study showed that fibromyalgia patients have more somatization symptoms than healthy individuals, and as psychiatric symptoms increase in these individuals, their level of being affected by FM increases. [ABSTRACT FROM AUTHOR]

INTRODUCTION: Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of pituitary hormone deficiencies, suggesting a potential role for the PROK2 pathway in pituitary development, in addition to its role in gonadotropin releasing hormone-expressing neuron development. Here, we present the clinical and molecular findings of four patients with PROKR2 mutations. METHODS: Next-generation targeted sequencing was used to screen 25 genes in 59 unrelated patients with multiple pituitary hormone deficiency (MPHD), isolated growth hormone (GH) deficiency, or idiopathic short stature. RESULTS: Two different, very rare PROKR2 missense alterations classified as pathogenic (NM_144773.4: c.518T>G; NP_658986.1: p. (Leu173Arg)) and likely pathogenic (NM_144773.4: c.254G>A; NP_658986.1: p.(Arg85His)) were identified in four patients in heterozygous form. Patient 1 and Patient 2 presented with short stature and were diagnosed as GH deficiency. Patient 3 and Patient 4 presented with central hypothyroidism and cryptorchidism and were diagnosed as MPHD. No other pathogenic alterations were detected in the remaining 24 genes related to short stature, MPHD, and hypogonadotropic hypogonadism. Segregation analysis revealed asymptomatic or mildly affected carriers in the families. DISCUSSION AND CONCLUSION: PROKR2 dominance should be kept in mind as a very rare cause of GH deficiency and MPHD. Expressional variation or lack of penetrance may imply oligogenic inheritance or other environmental modifiers in individuals who are heterozygous carriers.

OBJECTIVE: We aimed to compare immunological, histological and oxidative effects of antiepileptic agents; felbamate and levetiracetam on head trauma in rats. MATERIALS AND METHODS: In this study, 32 Sprague-Dawley genus male rats were used. A closed head trauma mechanism was constituted in order to perform head trauma in rats. Rats were divided into 4 groups, and each group had 8 rats. Following head trauma, Group 1 (Control); normal saline was administered, Group 2; levetiracetam 50 mg/kg was administered, Group 3; felbamate 100 mg/kg was administered, and Group 4; levetiracetam 50 mg/kg and felbamate 100 mg/kg were administered with a combination. Injections were administered intraperitoneally once a day for 20 days. The rats were decapitated at the end of the 20th day. Blood and tissue samples were collected and analyzed for biochemical, immunohistochemical and histological parameters. RESULTS: Serum cytokine levels in Group 2, 3 and 4 were lower when compared to the control group. In Group 4, in which combined therapy was performed, cytokine levels were found to be the lowest. In Groups 2 and 3, a significant decrease in vascular congestion, mononuclear cell infiltration, hemorrhage, and neural degeneration was noticed in the pia mater. In Group 2, a decrease in vascular congestion and Purkinje cell degeneration was obtained in the cerebellum. However, the best outcomes were determined in Group 4. CONCLUSIONS: We determined that levetiracetam and felbamate alone are useful with respect to immunological, oxidative and histological alterations. However, their utility is better when used in a combination. [ABSTRACT FROM AUTHOR]

Background: Mitochondrial diseases are the most common group of inherited metabolic disorders, causing difficulties in definite diagnosis due to clinical and genetic heterogeneity. Clinical components are predominantly associated with pathogenic variants shown in nuclear or mitochondrial genomes that affect vital respiratory chain function. The development of high-throughput sequencing technologies has accelerated the elucidation of the genetic etiology of many genetic diseases that previously remained undiagnosed.Methods: Thirty affected patients from 24 unrelated families with clinical, radiological, biochemical, and histopathological evaluations considered for mitochondrial diseases were investigated. DNA isolated from the peripheral blood samples of probands was sequenced for nuclear exome and mitochondrial DNA (mtDNA) analyses. MtDNA sequencing was also performed from the muscle biopsy material in one patient. For segregation, Sanger sequencing is performed for pathogenic alterations in five other affected family members and healthy parents.Results: Exome sequencing revealed 14 different pathogenic variants in nine genes encoding mitochondrial function peptides (AARS2, EARS2, ECHS1, FBXL4, MICOS13, NDUFAF6, OXCT1, POLG, and TK2) in 12 patients from nine families and four variants in genes encoding important for muscle structure (CAPN3, DYSF, and TCAP) in six patients from four families. Three probands carried pathogenic mtDNA variations in two genes (MT-ATP6 and MT-TL1). Nine variants in five genes are reported for the first time with disease association: (AARS2: c.277C>T/p.(R93*), c.845C>G/p.(S282C); EARS2: c.319C>T/p.(R107C), c.1283delC/p.(P428Lfs*); ECHS1: c.161G>A/p.(R54His); c.202G>A/p.(E68Lys); NDUFAF6: c.479delA/p.(N162Ifs*27); and OXCT1: c.1370C>T/p.(T457I), c.1173-139G>T/p.(?).Conclusion: Bi-genomic DNA sequencing clarified genetic etiology in 67% (16/24) of the families. Diagnostic utility by mtDNA sequencing in 13% (3/24) and exome sequencing in 54% (13/24) of the families prioritized searching for nuclear genome pathologies for the first-tier test. Weakness and muscle wasting observed in 17% (4/24) of the families underlined that limb-girdle muscular dystrophy, similar to mitochondrial myopathy, is an essential point for differential diagnosis. The correct diagnosis is crucial for comprehensive genetic counseling of families. Also, it contributes to making treatment-helpful referrals, such as ensuring early access to medication for patients with mutations in the TK2 gene.

For the first time, sol-gel spin coating was used to fabricate thin films of NiO doped with lutetium. The films were characterized to determine their crystalline structure, surface morphology, and optical properties as a function of Lu doping concentration. The investigations revealed that the Lu-doped NiO films consisted of nano-polycrystalline particles with a cubic bunsenite structure and (200) preferential orientation. Optical studies indicated that the optical band gap of pure NiO widened with low levels of Lu incorporation before narrowing with higher concentrations. The Urbach energy value for pure NiO initially decreased with 1 at. % Lu-content, from 224 meV to 190 meV, and then continuously increased to 380 meV with more Lu-level. To investigate the effects of Lu doping on the electronics, magnetic, and optical properties of NiO, first-principle computations were performed. The results showed that bulk magnetization underwent significant modifications due to a high hybridization between the Lu-f/d and Ni-d states. This study suggests that NiO doped with lutetium could be used for spin-polarized transport devices and other spin-dependent applications.

INTRODUCTION: Objective: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period. The aim was to evaluate the clinical, hormonal and genetic findings of 46,XY DSD patients who were diagnosed as AIS or 5α-RD. METHODS: Methods: Patients diagnosed as AIS or 5α-RD according to clinical and hormonal evaluations were investigated. Sequence variants of steroid 5-α-reductase type 2 were analyzed in cases with testosterone/dihydrotestosterone (T/DHT) ratio of ≥20, whereas the androgen receptor (AR) gene was screened when the ratio was T, p.Glu32*, c.330G>C, p.Leu110=; c.2084C>T, p.Pro695Leu, c.2585_2592delAGCTCCTG, p.(Lys862Argfs*16), of these c.330G>C with silent status remained undefined in terms of its causative effects. DISCUSSION AND CONCLUSION: Conclusion: T/DHT ratio is an important hormonal criterion, but in some cases, T/DHT ratio may lead to diagnostic confusion. Molecular diagnosis is important for the robust diagnosis of 46,XY DSD patients. Four novel AR variants were identified in our study.

Aim:Breast cancer is the most prevalent cancer diagnosed in women. Screening programs to diagnose breast anomalies increase the likelihood of early diagnosis and survival. This study describes the most extensive breast cancer screening program in Istanbul/Turkey between 2018 and 2019 and offers recommendations for nationwide programs.Methods:We collected data from the Istanbul Health Directorate’s cancer surveillance database from May 2018 to December 2019. We analyzed data on patients referred for further investigation due to suspicion of possible tumors in their screening radiography. The database included socio-demographic information and further examination details (tests, outcomes, and planned treatment).Results:The mean age of the 3,577 women who were invited for further examination was 52.3 [standard deviation (SD): 7.5]. The age group with the highest percentage of further investigation invitations was between 50 and 54. The mean time between the results of screening mammography was 16.2 days (SD: 15.3). 5.1% of the women referred were diagnosed with some sort of cancer. Women who went to the place of scheduled appointments, instead of getting an appointment in another place of their choosing, were diagnosed and treated earlier.Conclusion:For a breast screening program to reach the entirety of the target population, a comprehensive approach to every step of the process (screening, diagnosis, treatment) needs to be considered together.

Objective: Most lacunar strokes are sporadic, and hypertension, diabetes, smoking, and cardiovascular diseases are among its main risk factors. Strokes caused by small vessel diseases are generally associated with single-gene disorders with familial dominant and recessive inheritance. The most common condition is cerebral autosomal dominant arteriopathy, with subcortical infarcts and leukoencephalopathy (CADASIL), associated with the NOTCH3 gene. An infrequent form of this disease is the cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), revealed with pathogenic HTRA1 gene variants related to distinct molecular pathways. The neurological and cranial magnetic resonance imaging (MRI) findings are very similar to CADASIL; however, earlier than expected onset of common alopecia in man, low back pain, and more severe memory impairment are the differences in terms of clinical presentations. Clinical findings of 22 patients from 16 families with widespread white matter lesions in the periventricular field in the brain were investigated with molecular genetic findings. Materials and Methods: Clinical examination results and cranial MRI findings are reported, and NOTCH3 and HTRA1 genes are sequenced stepwise by Sanger and next-generation sequencing techniques. Results: Missense changes in epidermal growth factor (EGF)-like domain in the NOTCH3 are found in 18 cases from 14 families. Two different homozygous pathogenic missense and non-sense variants, in the HTRA1 gene, were detected in four patients from two families. The disease onset age was approximately 16 years earlier in cases carrying pathogenic variants located in the encoding region of EGF-like domains 1-6 of NOTCH3. Conclusion: In the NOTCH3 gene with c.382T>C (p.C128R), c.555T>G (p.C185W), and c.1903C>T (p.R635C) and in the HTRA1 gene c.235C>T (p.Q79*) are presented for the first time in this study. Molecular genetic investigation of CADASIL and CARASIL is important to support the clinical diagnosis, determine the inheritance model, provide patient and family counseling, manage disease process, and evaluate possible treatment strategies.

The objective of this study is to investigate the influence of screw speed, drawing ratio and composition of blend on the morphology and the mechanical properties of extruded and drawn PET/PP blends. Samples were generated by a two-step process. Firstly, PET was dispersed in PP matrix at different extrusion screw speeds in order to determine optimum mixing condition, and then extrudates were stretched by a take up device. Final morphology and mechanical properties of the samples were examined using scanning electron microscopy, dynamic mechanical analysis, and a universal testing machine. The results showed that low screw speeds were not enough to distribute PET droplets homogeneously inside the matrix. With increasing of the screw speed more homogeneous phase morphology was obtained but further increase caused to agglomeration of PET droplets. Scanning electron microscopy images also showed that with increasing of draw ratio PET droplets changed from spherical to rod-like shape, and finally to microfibrils in matrix. It was also found that with increasing of concentration of PET and draw ratio, mechanical properties increased up to 6-7 times compared to non-oriented samples. [ABSTRACT FROM AUTHOR]

The aim of this paper is to determine neutronic performances of the light water reactor (LWR) spent fuel mixed with fertile thorium fuel in a FFHR. Time dependent three dimensional calculations for major technical data, such as blanket energy multiplication, tritium breeding ratio, cumulative fissile fuel enrichment and burnup have been performed by using Monte Carlo Neutron-Particle Transport code MCNP5 1.4, coupled with a novel interface code MCNPAS, which is developed by our research group. A self-sustaining tritium breeding ratio (TBR>1.05) has been kept throughout the calculations. The study has shown that the fissile fuel quality will be improved in the course of the transmutation of the LWR spent in the FFHR. The latter has gained the reusable fuel enrichment level conventional LWRs between one and two years. Furthermore, LWR spent fuel - thorium mixture provides higher burn-up values than in light water reactors. Keywords: LWR spent fuel, Thorium, Time dependent neutronic analysis, Fusion-fission hybrid reactor

Abstract Background Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p. Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including seizures, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo−/hyper- pigmented streaks on the skin. Results Karyotypes obtained from cultured peripheral lymphocytes of 13 cases, who were diagnosed as PKS, were normal, while karyotypes obtained from cultured skin samples and buccal mucosa revealed the supernumerary mosaic i(12p). Mosaic karyotype was found in both fibroblast and buccal mucosa in 14 of 15 patients in our series, whereas in one stillbirth, following the clinical diagnosis of PKS, skin and buccal smear samples were taken, and all karyotypes from cultured fibroblasts revealed a supernumerary i(12p), while I-FISH study showed 60% mosaicism in mucosal cells. Conclusions We here share the clinical, cytogenetic and molecular cytogenetic findings of 15 cases with PKS phenotype and the parental origin of seven i(12p) identified by molecular analyses. To our knowledge, this is the largest series of PKS patients with parental origin study from a single center. We believe that our study makes a significant contribution to the literature because we specifically found no differences in the phenotypes of cases with either a maternal or paternal origin of the extra element and differential imprinting appeared not to be a factor.

Abstract Background Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients. Case presentations Three patients were admitted into hospital due to recurrent seizures/syncope, intrauterine and postnatal bradycardia respectively; moreover all three patients had congenital sensorineural hearing-loss. Their electrocardiograms showed markedly prolonged QT interval. Implantable defibrillator was implanted and left cardiac sympathetic denervation was performed due to the progressive disease in case 1. She had countless ventricular fibrillation and appropriate shock while using an implantable defibrillator. The DNA sequencing analysis of the KCNQ1 gene disclosed a homozygous c.728G > A (p.Arg243His) missense mutation in case1. Further targeted next generation sequencing of cardiac panel comprising 68 gene revealed a heterozygous c.1346 T > G (p.Ile449Arg) variant in RYR2 gene and a heterozygous c.809G > A (p.Cys270Tyr) variant in NKX2–5 gene in the same patient. Additional gene alterations in RYR2 and NKX2–5 genes were thought to be responsible for progressive and malignant course of the disease. As a result of DNA sequencing analysis of KCNQ1 and KCNE1 genes, a compound heterozygosity for two mutations had been detected in KCNQ1 gene in case 2: a maternally derived c.477 + 1G > A splice site mutation and a paternally derived c.520C > T (p.Arg174Cys) missense mutation. Sanger sequencing of KCNQ1 and KCNE1 genes displayed a homozygous c.1097G > A (p.Arg366Gln) mutation in KCNQ1 gene in case 3. β-blocker therapy was initiated to all the index subjects. Conclusions Three families of JLNS who presented with long QT and deafness and who carry homozygous, or compound heterozygous mutation in KCNQ1 gene were presented in this report. It was emphasized that broad targeted cardiac panels may be useful to predict the outcome especially in patients with unexplained phenotype-genotype correlation. Clinical presentations and molecular findings will be discussed further to clarify the phenotype genotype associations.

Objective: To examine the opinions and the self-reported behaviors of physicians regarding the issues of informed consent and refusing treatment.Design: This study was performed between July and September 2003, with 51 physicians selected by simple random sampling. The data were collected by using a questionnaire.Setting: A training hospital of medicine faculty.Participants: Fifty-one clinicians working in the branches of internal medicine and surgery.Results: Although the majority (80.4%) of the participants think that information about diagnosis and treatment should always be disclosed to patients, 60.8% reported that they always disclose information about the diagnosis and 49% did the same for information about treatment. A total of 84.3% think that patients' consent should always be obtained before diagnostic and therapeutic procedures, whereas 47% reported that they always obtain consent in their clinical practice. It was also seen that physicians have doubts concerning the comprehension of the information they disclose to their patients. In addition, most (86.3%) of the participants think that a competent patient always has the right to refuse treatment, regardless of the disease and the outcomes.Conclusions: Although opinions favoring the duties implied by informed consent are in the majority, these do not always reflect the behaviors in daily clinical practice, and there may be problems in carrying out the duties implied by the elements of informed consent. Some recommendations that could be beneficial in addressing these problems are presented at the end of the study. [ABSTRACT FROM AUTHOR]

In this investigation, Al/PEDOT/C/p-Si structure has been fabricated by synthesizing PEDOT/C composites on the p-Si substrate. The thickness and surface morphology of PEDOT/C on p-Si have been investigated by using the scanning electron microscope. The optical characterization of PEDOT/C solution indicated a strong optical absorbance peak located at 267 nm. The electrical characterization of Al/PEDOT/C/p-Si structure was made under dark and illumination conditions at the room temperature. The ideality factor, and barrier height were identified to be 1.28, 1.12 and 0.80 eV, 0.83 eV from current–voltage (I–V) measurements for dark and illuminated conditions, respectively. The results show that the Al/PEDOT/C/p-Si structure may be utilized to be a photodiode in optoelectronic implementations. Keywords: Polymeric composites, Electrical properties, Contacts