Does the Welfare Affect the Number of Patents?

DergiPark: 865296trakyasobedİnovasyon, yeni fikirlerin, ticari ve endüstriyel yöntemlerin yanı sıra teknolojilerin keşfedilmesi, geliştirilmesi, öğrenilmesi ve uygulanması için karmaşık ve devam eden bir süreç olarak tanımlanabilir. İnovasyon çabalarından elde edilen süreçlerin ve tekniklerin çoğu birikimli ve birbirine bağımlıdır. Bir ülkenin bu çabaları geliştirme yeteneği; eğitim kalitesi, araştırmayı destekleyecek altyapıların mevcudiyeti ve piyasaların sağlıklı işlemesine bağlıdır. İnovasyon ekonomik büyümede ve refah düzeyinde önemli bir rol oynamaktadır. Bu çalışmada refah düzeyinin inovasyon üzerindeki etkisini araştırmak için 2010-2017 dönemini kapsayan 36 OECD ülkesine ait veriler kullanılmıştır. Kurulan havuzlanmış regresyon modelinde bağımlı değişken patent sayısı iken; bağımsız değişkenler işgücü verimliliği, Ar-Ge harcamaları ve sosyal harcamalardır. Ar-Ge harcamalarının ve sosyal harcamaların patent sayısını pozitif yönde etkilediği bulunmuştur. Refah düzeyinin artması ülkenin inovasyon potansiyeline katkıda bulunarak büyümeyi destekleyecektir.Innovation can be defined as a complex and ongoing process for the discovery, development, learning and implementation of technologies, as well as new ideas, commercial and industrial methods. Most of the processes and techniques from innovation efforts are cumulative and interdependent. The ability of a country to develop these efforts depends on the quality of education, the availability of infrastructures to support research and functioning of the markets. Innovation plays an important role in economic growth and welfare. In the study, data from 36 OECD countries covering the period 2010-2017 were used to investigate the impact of welfare on innovation. While the dependent variable was the number of patents in the pooled regression model established; independent variables are labour productivity, R amp;D spending and social spending. It was found that R amp;D spending and social spending positively affect the number of patents. Increasing welfare will contribute to the country's innovation potential and will support growth

İşletmelerde Hilelerin Önlenmesinde İç Kontrolün Rolü: Karayolu İle Uluslararası Yük Taşımacılığı Yapan Bir İşletmede Örnek Olay İncelemesi

İşletmelerde hilelerin tespit edilmesi ve önlenmesi büyük ölçüde etkin bir iç kontrol sisteminin varlığına ve değişen koşullara göre sürekli güncellenmesine bağlıdır. Bu çalışmada, işletmelerde hilelerin önlenmesinde iç kontrolün rolünün ortaya koyulmasına yönelik olarak karayolu ile uluslararası yük taşımacılığı faaliyeti ile iştigal eden bir işletmede yaşanan bir vaka üzerinden hileli eylemlerin tespit edilmesi ve önlenmesine yönelik çözüm önerilerinin sunulması amaçlanmıştır. Bu amaçla çalışmada öncelikle hile ve iç kontrol hakkında bilgi verilerek aralarındaki ilişkiye değinilmiş, sonrasında karayoluyla uluslararası yük taşımacılığı yapan bir işletmede çalışanların gerçekleştirdiği hilelerin tespit edilmesi süreci ve bu hilelerin önlenmesine yönelik çözüm önerileri örnek olay yöntemiyle ortaya koyulmuştur. Çalışmanın sonucunda işletmedeki çalışan hilelerinin önemli ölçüde iç kontrol bileşenlerinden bilgi ve iletişim ile gözetim faaliyetlerinin eksikliğinden kaynaklandığı sonucuna ulaşılmıştır

Histopathological distribution of thyroid cancers: A retrospective analysis of 570 patients

Aim: Thyroid cancers are the most commonly encountered endocrine system malignancies.  The incidence continues to rise worldwide. Our aim in this study is to investigate the frequency and histopathological subtypes of thyroid cancer in our clinic. Methods: The present study was conducted with 3614 patients who were followed up in our endocrinology and general surgery clinic and operated with the diagnosis of multinodular and/or nodular goiter between 2015 and 2021. The histopathological types and information of patients diagnosed with thyroid cancer were obtained retrospectively from the pathology reports. Among the patients included in the study, a total of 570 people who were reported to have thyroid cancer due to histopathology were included in the study. Results: The data of a total of 3614 biopsy reports were examined for the study. Among these patients, 570 (421 females, 149 males) were operated and whose pathology reports were accessed were included in the study. The mean age of the patients was 49.12±10.4 years. As a result of the operations, malign postoperative tissue histopathology was 98.9% (n=564), and uncertain malignancy potential was reported to be 1.0% (n=6). In our study, the histopathological distribution of thyroid cancers was as follows; thyroid papillary cancer 89.4% (n=510), follicular cancer 7.3% (n=42), medullary cancer 2.1% (n=12), and malignancy potential uncertain 1.0% (n=6). Conclusion: The results of our study suggest that thyroid cancers are more common in women in our country, in parallel with the similar rates reported in the literature, with the increase worldwide

Prevalence and Dermoscopic Patterns of Acral Melanocytic Nevi in Turkey

Although nevi are frequently encountered in the acral region, very limited studies have reported their prevalence in specific populations. We aimed to determine the prevalence of acral nevi, their dermoscopic patterns, and evaluate patient awareness in a Turkish population. We prospectively examined 2644 patients admitted to the outpatient dermatology clinics between October 2016 and October 2017. The characteristics of the detected acral nevi and dermatoscopic images were recorded. A questionnaire of demographic characteristics was completed from all patients. Two hundred six of the 2644 patients had at least one acral nevus. Two hundred sixty nevi were examined. The general prevalence of acral nevi was 7.8%. Women were more likely to have acral nevi than men (8.7% vs. 6.3%; P=0.028). Moreover, darker-skinned patients were also had significantly more acral nevi (8.6% in skin type III-IV vs. 6.0% in skin type I-II; P<0.001). The prevalence of acral nevi was 9.4% before the age of 20, 9.5% in patients aged 20-40 years, and 4.6% after the age of 40. In addition, 51.5% of all nevi exhibited a parallel furrow, 13.5% were lattice-like, and 7.7% had a homogeneous pattern. The overall nevus awareness rate was 73.8% and was significantly higher in women at 78.3%. Our study is the first large-scale study of that showed the prevalence of acral nevi in Turkey. According to our study, the prevalence of acral nevi was higher in patients with female sex and darker skin type. We also found that the prevalence of acral nevi decreased over 40 years of age. The general awareness of nevi was higher in women

Prevalence and Dermoscopic Patterns of Acral Melanocytic Nevi in Turkey

Although nevi are frequently encountered in the acral region, very limited studies have reported their prevalence in specific populations. We aimed to determine the prevalence of acral nevi, their dermoscopic patterns, and evaluate patient awareness in a Turkish population. We prospectively examined 2644 patients admitted to the outpatient dermatology clinics between October 2016 and October 2017. The characteristics of the detected acral nevi and dermatoscopic images were recorded. A questionnaire of demographic characteristics was completed from all patients. Two hundred six of the 2644 patients had at least one acral nevus. Two hundred sixty nevi were examined. The general prevalence of acral nevi was 7.8%. Women were more likely to have acral nevi than men (8.7% vs. 6.3%; P=0.028). Moreover, darker-skinned patients were also had significantly more acral nevi (8.6% in skin type III-IV vs. 6.0% in skin type I-II; P<0.001). The prevalence of acral nevi was 9.4% before the age of 20, 9.5% in patients aged 20-40 years, and 4.6% after the age of 40. In addition, 51.5% of all nevi exhibited a parallel furrow, 13.5% were lattice-like, and 7.7% had a homogeneous pattern. The overall nevus awareness rate was 73.8% and was significantly higher in women at 78.3%. Our study is the first large-scale study of that showed the prevalence of acral nevi in Turkey. According to our study, the prevalence of acral nevi was higher in patients with female sex and darker skin type. We also found that the prevalence of acral nevi decreased over 40 years of age. The general awareness of nevi was higher in women

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

BACKGROUND. Arthrogryposis, defined as congenital, joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described that present with arthrogryposis, and variants of more than 220 genes have been associated with these disorders; however, the underlying molecular etiology remains unknown in the considerable majority of these cases. METHODS. We performed whole exome sequencing (WES) of 52 patients with clinical presentation of arthrogryposis from 48 different families. RESULTS. Affected individuals from 17 families (35.4%) had variants in known arthrogryposis-associated genes, including homozygous variants of cholinergic gamma nicotinic receptor (CHRNG, 6 subjects) and endothelin converting enzyme-like 1 (ECELI, 4 subjects). Deleterious variants in candidate arthrogryposis-causing genes (fibrillin 3 [FBN3], myosin IXA [MY09A], and pleckstrin and Sec7 domain containing 3 [PSD3]) were identified in 3 families (6.2%). Moreover, in 8 families with a homozygous mutation in an arthrogryposis-associated gene, we identified a second locus with either a homozygous or compound heterozygous variant in a candidate gene (myosin binding protein C, fast type (MYBPC2] and vacuolar protein sorting 8 [VPS8], 2 families, 4.2%) or in another disease-associated genes (6 families, 12.5%), indicating a potential mutational burden contributing to disease expression. CONCLUSION. In 58.3% of families, the arthrogryposis manifestation could be explained by a molecular diagnosis; however, the molecular etiology in subjects from 20 families remained unsolved by WES. Only 5 of these 20 unrelated subjects had a clinical presentation consistent with amyoplasia; a phenotype not thought to be of genetic origin. Our results indicate that increased use of genome-wide technologies will provide opportunities to better understand genetic models for diseases and molecular mechanisms of genetically heterogeneous disorders, such as arthrogryposis. FUNDING. This work was supported in part by US National Human Genome Research Institute (NHGRI)/National Heart, Lung, and Blood Institute (NHLBI) grant U54HG006542 to the Baylor-Hopkins Center for Mendelian Genomics, and US National Institute of Neurological Disorders and Stroke (NINDS) grant RO1NS058529 to J.R. Lupski.US NHGRI/NHLBI [U54HG006542]; US NINDSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Neurological Disorders & Stroke (NINDS) [R01NS058529]; CPRIT training Program [RP140102]; Medical Genetics Research Fellowship Program [T32 GM07526]; NATIONAL HUMAN GENOME RESEARCH INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Human Genome Research Institute (NHGRI) [U54HG006542] Funding Source: NIH RePORTER; NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCESUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of General Medical Sciences (NIGMS) [T32GM007526] Funding Source: NIH RePORTER; NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Neurological Disorders & Stroke (NINDS) [R01NS058529] Funding Source: NIH RePORTERWe thank the patients and their families who participated in this study. This work was supported in part by US NHGRI/NHLBI grant U54HG006542 to the Baylor-Hopkins Center for Mendelian Genomics and US NINDS grant R01NS058529 to J.R. Lupski. W.L. Charng is supported by CPRIT training Program RP140102, and T. Harel is supported by the T32 GM07526 Medical Genetics Research Fellowship Program

Balanced X autosome translocation suggests association of AMMECR1 disruption with hearing loss short stature bone and heart alterations

Univ Fed Sao Paulo, Dept Morphol & Genet, Sao Paulo, BrazilUniv Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandUniv Lausanne, Ctr Integrat Genom, Lausanne, SwitzerlandBaylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAHop Jeanne De Flandre, Clin Genet, Lille, FranceUniv Fed Sao Paulo, Dept Psychobiol, Sao Paulo, BrazilUniv Sao Paulo, Dept Pathol, Sao Paulo, BrazilFriedrich Schiller Univ, Inst Human Genet, Jena, GermanyHop Jeanne De Flandre, Inst Genet Med, Lille, FranceUniv Fed Sao Paulo, Dept Morphol & Genet, Sao Paulo, BrazilUniv Fed Sao Paulo, Dept Psychobiol, Sao Paulo, BrazilWeb of Scienc

Measurement and clinical implications of choroidal thickness in patients with inflammatory bowel disease

ABSTRACTPurpose:Ocular inflammation is a frequent extraintestinal manifestation of inflammatory bowel disease (IBD) and may parallel disease activity. In this study, we evaluated the utility of a choroidal thickness measurement in assessing IBD activity.Methods:A total of 62 eyes of 31 patients with IBD [Crohn's disease (CD), n=10 and ulcerative colitis (UC), n=21] and 104 eyes of 52 healthy blood donors were included in this study. Choroidal thickness was measured using enhanced depth imaging optical coherence tomography. The Crohn's disease activity index (CDAI) and the modified Truelove Witts score were used to assess disease activity in CD and UC, respectively.Results:No significant differences in mean subfoveal, nasal 3000 μm, or temporal 3000 μm choroidal thickness measurements (P>0.05 for all) were observed between IBD patients and healthy controls. Age, smoking, CD site of involvement (ileal and ileocolonic involvement), CDAI, CD activity, and UC endoscopic activity index were all found to be significantly correlated with choroidal thickness by univariate analysis (P<0.05). Smoking (P<0.05) and the CD site of involvement (P<0.01) were the only independent parameters associated with increased choroidal thickness at all measurement locations.Conclusions:Choroidal thickness is not a useful marker of disease activity in patients with IBD but may be an indicator of ileal involvement in patients with CD

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Objective: Defects in ion channels and neurotransmitter receptors are implicated in developmental and epileptic encephalopathy (DEE). Metabotropic glutamate receptor 7 (mGluR7), encoded by GRM7, is a presynaptic G-protein-coupled glutamate receptor critical for synaptic transmission. We previously proposed GRM7 as a candidate disease gene in two families with neurodevelopmental disorders (NDDs). One additional family has been published since. Here, we describe three additional families with GRM7 biallelic variants and deeply characterize the associated clinical neurological and electrophysiological phenotype and molecular data in 11 affected individuals from six unrelated families. Methods: Exome sequencing and family-based rare variant analyses on a cohort of 220 consanguineous families with NDDs revealed three families with GRM7 biallelic variants; three additional families were identified through literature search and collaboration with a clinical molecular laboratory. Results: We compared the observed clinical features and variants of 11 affected individuals from the six unrelated families. Identified novel deleterious variants included two homozygous missense variants (c.2671G>A:p.Glu891Lys and c.1973G>A:p.Arg685Gln) and one homozygous stop-gain variant (c.1975C>T:p.Arg659Ter). Developmental delay, neonatal- or infantile-onset epilepsy, and microcephaly were universal. Three individuals had hypothalamic–pituitary–axis dysfunction without pituitary structural abnormality. Neuroimaging showed cerebral atrophy and hypomyelination in a majority of cases. Two siblings demonstrated progressive loss of myelination by 2 years in both and an acquired microcephaly pattern in one. Five individuals died in early or late childhood. Conclusion: Detailed clinical characterization of 11 individuals from six unrelated families demonstrates that rare biallelic GRM7 pathogenic variants can cause DEEs, microcephaly, hypomyelination, and cerebral atrophy. © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association

Genetic architecture of laterality defects revealed by whole exome sequencing

Aberrant left-right patterning in the developing human embryo can lead to a broad spectrum of congenital malformations. The causes of most laterality defects are not known, with variants in established genes accounting for <20% of cases. We sought to characterize the genetic spectrum of these conditions by performing whole-exome sequencing of 323 unrelated laterality cases. We investigated the role of rare, predicted-damaging variation in 1726 putative laterality candidate genes derived from model organisms, pathway analyses, and human phenotypes. We also evaluated the contribution of homo/hemizygous exon deletions and gene-based burden of rare variation. A total of 28 candidate variants (26 rare predicted-damaging variants and 2 hemizygous deletions) were identified, including variants in genes known to cause heterotaxy and primary ciliary dyskinesia (ACVR2B, NODAL, ZIC3, DNAI1, DNAH5, HYDIN, MMP21), and genes without a human phenotype association, but with prior evidence for a role in embryonic laterality or cardiac development. Sanger validation of the latter variants in probands and their parents revealed no de novo variants, but apparent transmitted heterozygous (ROCK2, ISL1, SMAD2), and hemizygous (RAI2, RIPPLY1) variant patterns. Collectively, these variants account for 7.1% of our study subjects. We also observe evidence for an excess burden of rare, predicted loss-of-function variation in PXDNL and BMS1- two genes relevant to the broader laterality phenotype. These findings highlight potential new genes in the development of laterality defects, and suggest extensive locus heterogeneity and complex genetic models in this class of birth defects