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Abstract Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) are both epilepsy syndromes that can be attributed to deleterious mutations occurring in SCN1A, the gene encoding the pore‐forming α‐subunit of the NaV1.1 voltage‐gated sodium channel predominantly expressed in the central nervous system. In this research endeavor, our goal is to expand our prior cohort of Turkish patients affected by SCN1A‐positive genetic epilepsy disorders. This will be accomplished by incorporating two recently discovered and infrequent index cases who possess a novel biallelic (homozygous) SCN1A missense variant, namely E158G, associated with Dravet syndrome. Furthermore, our intention is to use computational techniques to predict the molecular phenotypes of each distinct SCN1A variant that has been detected to date within our center. The correlation between genotype and phenotype in Dravet syndrome/GEFS+ is intricate and necessitates meticulous clinical investigation as well as advanced scientific exploration. Broadened mechanistic and structural insights into NaV1.1 dysfunction offer significant promise in facilitating the development of targeted and effective therapies, which will ultimately enhance clinical outcomes in the treatment of epilepsy.

A heterogeneous catalyst can be used to obtain carboxylic acids in a regioselective fashion, in the presence of formic acid or oxalic acid and phosphine ligands. A catalytically-active palladium phosphine species may develop due to the possible leaching of the metal from the solid by the phosphine ligand. A portion of the reaction can take place on the surface of the solid. The surface of the solid phase may retain a colloidal phosphine-palladium species, developed by the phosphine ligand.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene. Enteropathy, endocrinopathy and skin manifestations are considered the classic triad of IPEX syndrome. However, patients with IPEX syndrome display a variety of phenotypes including life threatening multi-organ autoimmunity. Here, we present the case of two siblings with IPEX syndrome with the same hemizygous mutation, but with different types of symptomology at onset of the disease.

Turkey's biosafety regulations allow genetically modified food to be imported from abroad while prohibiting cultivation in Turkey – a puzzling regime that discriminates against domestic production. This article demonstrates that the making of the regime was the result of competition between two advocacy coalitions trying to recruit influential members and increase their leverage on the decision-making process. In the advocacy coalition framework, underlying the preferences of actors there are complex belief systems which are formed in a context of bounded rationality and significant information costs. This article highlights the importance of mechanisms of differential access to information: information is more readily available to corporate groups which can act in concert by solving collective action problems. Large groups with many small members are at a disadvantage in doing so due to collective action dynamics, and consequently they may adopt the position of rational ignorance rather than active engagement with the policy process. [ABSTRACT FROM AUTHOR]

Within the literature on financial governance a key question is why the 2008 financial crisis did not elicit a stronger regulatory reaction than it did - the 'post-crisis stasis' puzzle. We explore a neglected dimension of this puzzle: public attitudes toward financial regulation. Using a variety of survey data of the US public we find that there was persistent support for stronger financial regulation following the crisis, even support for radical reform in some instances, and support continued even after regulatory reform had been enacted. Despite such general sentiment, however, at nearly every stage public attitudes were highly conditional on partisan affiliation - a hugely consequential detail that meant that demand for reform was not channelled into more stringent policy but rather into a highly partisan, status quo protecting political machinery. Our analysis challenges notions of US public attitudes as either conservative in orientation or placated through modest reform, but also highlights the importance of domestic political constraints in shaping financial reform options despite majoritarian support for more robust reform. [ABSTRACT FROM AUTHOR]

Background: Congenital diarrheal disorders (CDDs) are a rare group of enteropathies that typically present in the early few months of life and pose a diagnostic challenge. We aimed to analyze the clinical findings and outcome of infants with CDDs and share experience about genetic testing. Methods: Demographic, clinical and genetic findings, and outcome of the patients (n = 24) with CDDs were recorded from hospital files. Results: The onset of diarrhea was within the neonatal period in 45.8% of the patients. The most frequent causes of CDDs were defects in digestion, absorption and transport of nutrients and electrolytes (DATN) (n = 11, 45.8%) and defects in intestinal immune-related homeostasis (IIH) (n = 6, 25%). Fat malabsorption (n = 6) was the leading cause of defects in DATN. Extraintestinal manifestations including neurological involvement (25%) and renal involvement (20.8%) were common among the patients. Genetic analyses were performed for 16 patients (targeted gene analysis in 9, congenital diarrhea panel in 3, immune deficiency panel in 1 and whole-exome sequencing in 3 patients). Genetic diagnosis was achieved in 14 of 16 patients (87.5%) with therapeutic consequences in 8 of 16 patients (50%). During the follow-up, 6 patients (25%) died. Conclusion: The percentage of undefined etiology decreased, and treatment of the patients improved with the increased number of genetic testing in patients with CDDs.

The study was undertaken in Scots pine shelterwood forests in central Anatolia at the edge of the Eurasian distribution of Scots pine and thus adding signi cance in terms of understanding the ecology of this important species. Canopy gap size and the position of the sapling within the regeneration cores were chosen within nine di erent strip-sample plots comprising 20 sapling regeneration cores. Those sapling regeneration cores under the gaps were divided into two portions (individuals at the edge and middle of the regeneration cores) and from each portion three individuals were selected. The growth relationships of individual saplings within the regenera-tion cores were determined from the age-height graph of 95 sapling-stem analyses. Gap-size classes that compromise a gap size gradient were chosen: small gaps (< 20 m2); intermediate gaps (20 - 177 m2); large gaps (178 - 707 m2). Spatial structure of mature trees were determined using the Clark-Evans index. In addition, di erentiation index (diameter, height, crown lenght, and crown radius) were calculated for each stand projections. Gaps with sapling regeneration cores ranged from 15 to 240 m2, with a mean of 91.55 ± 23.69 m2 by Student's t-test (p = 0.05). The maximal gap-size classes were found in the intermediate (90%), followed by large (5%) and small (5%). Compared with saplings in the middle of regeneration cores, those at the edge were always reduced in terms of mean height. Signi cant di erence was found between the ‘Main crop' and the ‘Edges 1-2' of the regeneration cores. There was no signi cant di erence for sapling age in regeneration cores. Fraction of land area in gap regeneration cores was found between 20 and 66% of total stand area. The age-height graph of 95 saplingstems derived from stem analyses showed that the saplings grow very well without any obvious deceleration in the gaps. These ndings can further inform forest managers about how to optimize growth of sapling by means of canopy gap regulation. The results are discussed in the context of future silvicultural modelling and new ways of assessing forest regeneration dynamics when gap-regeneration is important. [ABSTRACT FROM AUTHOR]

This article surveys the political economy of coups in Turkey, examining both their economic causes and the economic consequences they seem to generate. It reminds that whether coups had a negative causal effect on Turkish economic growth remains to be compellingly shown. It highlights that military intervention attempts tend to follow already troublesome economic times: Before the 1960 and 1980 coups, 1971 and 2007 memoranda, as well as the failed coup attempts in 1962 and 2016, economic growth slowed down compared to a previous five-year period. This is in line with global trends about coups becoming likely following slower economic growth. Furthermore, students of Turkish politics have noticed a more specific economic policymaking pattern centering on currency devaluation during episodes preceding coups. This article discusses whether such a pattern may be taken as a 'local theory' of Turkish coups while discussing its limitations. [ABSTRACT FROM AUTHOR]

INTRODUCTION[|]This study is an analysis of the subfoveal choroidal thickness (SFCT) and ganglion cell complex (GCC) in children who have type 1 diabetes mellitus (T1D) without diabetic retinopathy.[¤]METHODS[|]In all, 36 right eyes of 36 patients with T1D and 36 right eyes of sex- and age-matched healthy subjects were included in this prospective study. SFCT and GCC measurements were obtained using spectral domain optical coherence tomography (SD-OCT). Correlations between SCFT, GCC and duration of T1D, glycated hemoglobin, and age were also investigated.[¤]RESULTS[|]The mean SFCT was 342.1+-42.3 µm in the T1D group and 354+-70.8 µm in the control group (p>0.05). There was no significant difference between the groups in the GCC superior and inferior retina values. The average GCC was thinner in the T1D group (T1D group: 88.11+-14.93 µm, control group: 103.39+-15.65 µm; p=0.005). The mean central retinal thickness (CRT) was decreased in the T1D group (T1D group: 248.1+-16.5 µm, control group: 262.1+-18.3 µm; p=0.021).[¤]DISCUSSION AND CONCLUSION[|]The mean SFCT was not significantly different in diabetic children compared with healthy eyes. The CRT and average GCC thickness were lower in children with T1D. SD-OCT can reveal neurodegenerative changes that may occur before vascular changes in diabetic children.[¤]

Abstract We use the results of CMS and ATLAS searches for resonances that decay to $$\tau \nu $$ τ ν or tb and $$\tau ^+\tau ^-$$ τ + τ - or $$t{\bar{t}}$$ t t ¯ final states to constrain the parameters of non-universal $$W^\prime $$ W ′ and $$Z^\prime $$ Z ′ gauge bosons that couple preferentially to the third generation. For the former we consider production from $$c\bar{b}$$ c b ¯ annihilation and find very weak constraints on the strength of the interaction and only for the mass range between 800 and 1100 GeV from the $$pp \rightarrow \tau _h p_T^{\mathrm{miss}}$$ p p → τ h p T miss channel. The constraints on the latter are much stronger and arise from both $$t{\bar{t}}$$ t t ¯ and $$\tau ^+\tau ^-$$ τ + τ - production. Treated separately, we find that the weak constraints on the $$W^\prime $$ W ′ still permit an explanation of the $$R(D^{(\star )})$$ R ( D ( ⋆ ) ) anomalies with a light sterile neutrino whereas the stronger constraints on the $$Z^\prime $$ Z ′ exclude significant light sterile neutrino contributions to the $$K \rightarrow \pi \nu \bar{\nu }$$ K → π ν ν ¯ rates. Within specific models the masses of $$W^\prime $$ W ′ and $$Z^\prime $$ Z ′ are of course related and we briefly discuss the consequences.

Amaç: Bu çalışmanın amacı, bcr-abl negatif kronik miyeloproliferatif hastalık tanısı alan hastaların tanı anında JAK2 V617F, kalretikulin (CALR tip-1 ve tip-2) ve MPL-W515K / L mutasyonların sıklığını ve bu mutasyonların klinik önemini tartışmaktır.Gereç ve Yöntem: Bu çalışmada, Temmuz 2017-Mart 2019 tarihleri arasında BCR-ABL negatif kronik miyeloproliferatif hastalık tanısı alan hastaların demografik özellikleri, tanı alt tipi, risk durumu ve mutasyon analizi araştırılmıştır.Bulgular: JAK2-V617F mutasyonu 18‘i (% 85,7) polistemia vera (PV) ve geri kalanı (N = 9, %56,2) esansiyel trombositoz (ET) tanısı alan toplam 27 hastada saptandı. ET tanısı konmuş JAK2 V617F negatif 4 (% 57,1) hastada kalretikulin mutasyonu saptandı. Üç hastada CALR-tip 1 mutasyon ve 1 hastada CALR-tip 2 mutasyon tespit edildi. ET tanısı alan hastaların hiçbirinde MPL-W515K / L saptanmadı. Trombotik olay PV' li hastaların % 12,6'sı ve ET' li hastaların% 6,25'i olarak tespit edildi. Hastaların 14'ünde (% 37,8) splenomegali saptandı. Sonuç: Kronik myeloproliferatif hastalıkların patogenezi, sınıflandırılması ve risk grupları son yıllarda bazı genetik mutasyonların tanımlanması ile iyi karakterize edilmiştir. JAK2 V617F, CALR ve MPL kronik myeloproliferatif hastalıkların patogenezinde, hastalığın tanı, risk sınıflandırması, takipte önemli olan ve kişiselleştirilmiş tıpta önem kazanan aynı zamanda en sık tanımlanan somatik mutasyonlardır.