Agreement of Turkish Physiatrists with the Assessment in Spondyloarthritis International Society and the European League Against Rheumatism Recommendations for the Management of Ankylosing Spondylitis and Rheumatoid Arthritis

Background: New developments in the field of targeted therapies or biologic agents led more effective management of ankylosing spondylitis (AS) and rheumatoid arthritis (RA). Recommendations for the management of rheumatic diseases propose to reduce inappropriate use of medications, minimize variations among countries, and enable cost-effective use of health care resources. Objective: The aim this study was to evaluate conceptual agreement of ASsessment in SpondyloArthritis International Society (ASAS) and the EUropean League Against Rheumatism (EULAR) recommendations for the management of AS and EULAR recommendations for RA and to assess the rate of application among Turkish physiatrists in daily clinical practice. Methods: An online survey link has been sent to 1756 Turkish physiatrists with e-mails asking to rate agreement on 11-item ASAS/EULAR AS recommendations and 15-item EULAR RA recommendations with synthetic and biological disease-modifying anti-rheumatic drugs. Also barriers and difficulties for using biologic agents were assessed. Results: Three hundred nine physiatrists (17.5%) completed the survey. The conceptual agreement with both recommendations was very high (Level of agreement; mean 8.35±0.82 and 8.90± 0.67 for RA and AS recommendations, respectively), and the self-declared application of overall recommendations in the clinical practice was also high for both RA and AS (72.42% and 75.71%, respectively). Conclusion: Turkish physiatrists are in good conceptual agreement with the evidence-based recommendations for the management of AS and RA. These efforts may serve to disseminate the knowledge and increase the current awareness among physicians who serve to these patients and also implementation of these recommendations is expected to increase as well.PubMedScopu

Noun and verb knowledge in monolingual preschool children across 17 languages: Data from cross-linguistic lexical tasks (LITMUS-CLT)

This article investigates the cross-linguistic comparability of the newly developed lexical assessment tool Cross-linguistic Lexical Tasks (LITMUS-CLT). LITMUS-CLT is a part the Language Impairment Testing in Multilingual Settings (LITMUS) battery (Armon-Lotem, de Jong & Meir, 2015). Here we analyse results on receptive and expressive word knowledge tasks for nouns and verbs across 17 languages from eight different language families: Baltic (Lithuanian), Bantu (isiXhosa), Finnic (Finnish), Germanic (Afrikaans, British English, South African English, German, Luxembourgish, Norwegian, Swedish), Romance (Catalan, Italian), Semitic (Hebrew), Slavic (Polish, Serbian, Slovak) and Turkic (Turkish). The participants were 639 monolingual children aged 3;0-6;11 living in 15 different countries. Differences in vocabulary size were small between 16 of the languages; but isiXhosa-speaking children knew significantly fewer words than speakers of the other languages. There was a robust effect of word class: accuracy was higher for nouns than verbs. Furthermore, comprehension was more advanced than production. Results are discussed in the context of cross-linguistic comparisons of lexical development in monolingual and bilingual populations

Comparison of stepwise vs single-step advancement with the Functional Mandibular Advancer in Class II division 1 treatment

WOS: 000392254400011PubMed ID: 27366817Objective: To compare two groups of subjects at the peak of the pubertal growth period treated with the Functional Mandibular Advancer (FMA; Forestadent, Pforzheim, Germany) appliance using either single-step or stepwise mandibular advancement. Materials and Methods: This study was conducted on 34 Class II division 1 malocclusion subjects at or just before the peak phase of pubertal growth as assessed by hand-wrist radiographs. Subjects were assigned to two groups of mandibular advancement, using matched randomization. Both groups were treated with the FMA. While the mandible was advanced to a super Class I molar relation in the single-step advancement group (SSG), patients in the stepwise mandibular advancement group (SWG) had a 4-mm initial bite advancement and subsequent 2-mm advancements at bimonthly intervals. The material consisted of lateral cephalograms taken before treatment and after 10 months of FMA treatment. Data were analyzed by means paired t-tests and an independent t-test. Results: There were statistically significant changes in SNB, Pg horizontal, ANB, Co-Gn, and Co-Go measurements in both groups (P .05). Conclusion: Because of the higher rates of sagittal mandibular skeletal changes, FMA using stepwise advancement of the mandible might be the appliance of choice for treating Class II division 1 malocclusions

A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family

Krabbe disease (KD) or globoid cell leukodystrophy is an autosomal recessive lysosomal storage disorder involving the white matter of the peripheral and the central nervous systems. It is caused by a deficiency of galactocerebrosidase enzyme activity. The most common manifestation is the classical early onset KD that leads to patient's loss before the age of 2. Herein, we report the evaluation of a consanguineous family with three affected children manifesting severe neurological findings that ended with death before the age of 2, in an attempt to provide genetic diagnosis to the family. One of the children underwent detailed physical and neurological examinations, including brain magnetic resonance imaging (MRI) and scalp electroencephalography (EEG) evaluations. GALC genetic testing on this child enabled identification of a novel homozygous variant (NM_000153.3: c.1394C>T; p.(Thr465Ile)), which confirmed diagnosis as KD. Familial segregation of this variant was performed by PCR amplification and Sanger sequencing that revealed the parents as heterozygous carriers. We believe this novel GALC variant will not only help in genetic counseling to this family but will also aid in identification of future KD cases

Is there Any Link Between Oxidative Stress and Lung Involvement due to Inflammatory Bowel Disease: An Experimental Study

WOS: 000300532700010PubMed ID: 22234058Background/Aims: Lung involvement due to inflammatory bowel disease (IBD) is frequent, however the pathogenic mechanism is still debatable. Although the evidence of inflammation in colonic and lung tissue has been documented, the possible effect of oxidative stress in lung tissue has not been evaluated to date. We sought to assess the effects of oxidant/antioxidants on lung tissue in a model of experimental colitis. Methodology: Colitis was induced with intra-colonic administration of 4% acetic acid. Control group received isotonic saline. Serum and lung tissue markers of oxidative stress were explored. Results: Serum total oxidant status was significantly higher in the colitis group than the controls while total antioxidant status was similar. The determinants of oxidants including lipid peroxidation assay and myeloperoxidase activity were significantly higher in the lung tissue of the colitis group whereas the indicators of antioxidant capacity determined as superoxide dismutase, catalase, glutathione and glutathione peroxidase were decreased (p<0.05). Conclusions: This study showed that oxidative stress is not restricted to the bowel and the lung is a main target of oxidant overload. Pulmonary injury caused by increased oxidant stress may be the underlying reason of pulmonary involvement due to IBD

Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability

Intellectual disability (ID) is a genetically heterogeneous neurodevelopmental disorder characterised by significantly impaired intellectual and adaptive functioning. ID is commonly syndromic and associated with developmental, metabolic and/or neurological findings. Autosomal recessive ID (ARID) is a significant component of ID especially in the presence of parental consanguinity. Several ultra rare ARID associated variants in numerous genes specific almost to single families have been identified by unbiased next generation sequencing technologies. However, most of these new candidate ARID genes have not been replicated in new families due to the rarity of associated alleles in this highly heterogeneous condition. To determine the genetic component of ARID in a consanguineous family from Turkey, we have performed SNP-based linkage analysis in the family along with whole exome sequencing (WES) in an affected sibling. Eventually, we have identified a novel pathogenic variant in EEF1D, which has recently been recognised as a novel candidate gene for ARID in a single family. EEF1D encodes a ubiquitously expressed translational elongation factor functioning in the cytoplasm. Herein, we suggest that the loss of function variants exclusively targeting the long EEF1D isoform may explicate the ARID phenotype through the heat shock response pathway, rather than interfering with the canonical translational elongation