Usher syndrome associated with Fuchs’ heterochromic uveitis: a case report

We report a case of Usher syndrome in association with unilateral Fuchs’ heterochromic uveitis

The genetic history of the Southern Arc: a bridge between West Asia and Europe

By sequencing 727 ancient individuals from the Southern Arc (Anatolia and its neighbors in Southeastern Europe and West Asia) over 10,000 years, we contextualize its Chalcolithic period and Bronze Age (about 5000 to 1000 BCE), when extensive gene flow entangled it with the Eurasian steppe. Two streams of migration transmitted Caucasus and Anatolian/Levantine ancestry northward, and the Yamnaya pastoralists, formed on the steppe, then spread southward into the Balkans and across the Caucasus into Armenia, where they left numerous patrilineal descendants. Anatolia was transformed by intra–West Asian gene flow, with negligible impact of the later Yamnaya migrations. This contrasts with all other regions where Indo-European languages were spoken, suggesting that the homeland of the Indo-Anatolian language family was in West Asia, with only secondary dispersals of non-Anatolian Indo-Europeans from the steppe

VIBRATION ANALYSES OF RAILWAY SYSTEMS USING PROPOSED NEURAL PREDICTORS

Due to travelling on railway systems; there are many gaps and problems in cross areas. Therefore; it is necessary and very important to establish intelligent crossing systems in such areas. On the other hand, it is not possible for trains to stop or brake immediately against an obstacle due to their high speed and inertia. For this reason, it is necessary to work on the safety/warning of the other main factors and necessities (pedestrians and vehicles) in level crossings. This experimental investigation is carried out by using an experimental real-time train and crossing systems. The main vibration parameters are analysed by using neural networks. First, the dynamics of the train-rail system related to level crossings are examined, and the vibrations created by the train on rails are measured at different speeds. Then three types of proposed neural networks predictors, Levenberg-Marquardt backpropagation (LMBP), scaled conjugate gradient backpropagation (SCGB) and BFGS quasi-Newton backpropagation (BFGS) are used to predict the vibration of the train-rail system. From the results, it is seen that the proposed LMBP is more suitable for analysing and predicting the vibration of the train-rail system. It is clear that the speeds of the trains approaching the level crossing can be estimated from the vibration of the trains on the rails

Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes

Background: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series. Aim: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015. Method: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Türkiye. Clinical and paraclinical features were compared between patients with disease onset before 12 years (earlier onset) and ≥12 years (later onset) as well as between our current (2015–2021) and previous (2015) cohorts. Results: A total of 634 children (456 girls) were enrolled, 89 (14%) were of earlier onset. The earlier-onset group had lower female/male ratio, more frequent initial diagnosis of acute disseminated encephalomyelitis (ADEM), more frequent brainstem symptoms, longer interval between the first two attacks, less frequent spinal cord involvement on magnetic resonance imaging (MRI), and lower prevalence of cerebrospinal fluid (CSF)-restricted oligoclonal bands (OCBs). The earlier-onset group was less likely to respond to initial disease-modifying treatments. Compared to our previous cohort, the current series had fewer patients with onset 12 years, initial presentation with ADEM-like features, brainstem or cerebellar symptoms, seizures, and spinal lesions on MRI. The female/male ratio, the frequency of sensorial symptoms, and CSF-restricted OCBs were higher than reported in our previous cohort. Conclusion: Pediatric MS starting before 12 years was less common than reported previously, likely due to exclusion of patients with antibody-mediated diseases. The results underline the importance of antibody testing and indicate pediatric MS may be a more homogeneous disorder and more similar to adult-onset MS than previously thought. © 2022 European Paediatric Neurology SocietyThe authors thank all their colleagues for their help in the follow-up of the patients. Note added in proof: part of the patients in the present cohort were included in the newly published study: Solmaz I, Doran T, Yousefi M, Konuskan B, Oncel I, Vural A, Anlar B. Frequency of myelin oligodendrocyte glycoprotein antibodies in pediatric onset multiple sclerosis. Mult Scler Relat Disord. 2022 Aug 8;68:104097. doi: 10.1016/j.msard.2022.104097. Epub ahead of print. PMID: 35998500

The genetic history of the Southern Arc: a bridge between West Asia and Europe

By sequencing 727 ancient individuals from the Southern Arc (Anatolia and its neighbors in Southeastern Europe and West Asia) over 10,000 years, we contextualize its Chalcolithic period and Bronze Age (about 5000 to 1000 BCE), when extensive gene flow entangled it with the Eurasian steppe. Two streams of migration transmitted Caucasus and Anatolian/Levantine ancestry northward, and the Yamnaya pastoralists, formed on the steppe, then spread southward into the Balkans and across the Caucasus into Armenia, where they left numerous patrilineal descendants. Anatolia was transformed by intra?West Asian gene flow, with negligible impact of the later Yamnaya migrations. This contrasts with all other regions where Indo-European languages were spoken, suggesting that the homeland of the Indo-Anatolian language family was in West Asia, with only secondary dispersals of non-Anatolian Indo-Europeans from the steppe. Stories about the peopling?and people?of Southern Europe and West Asia have been passed down for thousands of years, and these stories have contributed to our historical understanding of populations. Genomic data provide the opportunity to truly understand these patterns independently from written history. In a trio of papers, Lazaridis et al. examined more than 700 ancient genomes from across this region, the Southern Arc, spanning 11,000 years, from the earliest farming cultures to post-Medieval times (see the Perspective by Arbuckle and Schwandt). On the basis of these results, the authors suggest that earlier reliance on modern phenotypes and ancient writings and artistic depictions provided an inaccurate picture of early Indo-Europeans, and they provide a revised history of the complex migrations and population integrations that shaped these cultures. ?SNV A web of migrations between Anatolia, its neighbors, and the Steppe suggests a West Asian origin of Indo-Anatolian languages

Ancient DNA from Mesopotamia suggests distinct Pre-Pottery and Pottery Neolithic migrations into Anatolia

We present the first ancient DNA data from the Pre-Pottery Neolithic of Mesopotamia (Southeastern Turkey and Northern Iraq), Cyprus, and the Northwestern Zagros, along with the first data from Neolithic Armenia. We show that these and neighboring populations were formed through admixture of pre-Neolithic sources related to Anatolian, Caucasus, and Levantine hunter-gatherers, forming a Neolithic continuum of ancestry mirroring the geography of West Asia. By analyzing Pre-Pottery and Pottery Neolithic populations of Anatolia, we show that the former were derived from admixture between Mesopotamian-related and local Epipaleolithic-related sources, but the latter experienced additional Levantine-related gene flow, thus documenting at least two pulses of migration from the Fertile Crescent heartland to the early farmers of Anatolia