High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and economic burden. A definitive molecular diagnosis could not be achieved in these children previously, as infrastructures and access to sophisticated diagnostic options were limited. We studied the cause of neurogenetic disease in 246 children from 190 consanguineous families recruited in three Turkish hospitals between 2016 and 2020. All patients underwent deep phenotyping and trio whole exome sequencing, and data were integrated in advanced international bioinformatics platforms. We detected causative variants in 119 known disease genes in 72% of families. Due to overlapping phenotypes 52% of the confirmed genetic diagnoses would have been missed on targeted diagnostic gene panels. Likely pathogenic variants in 27 novel genes in 14% of the families increased the diagnostic yield to 86%. Eighty-two per cent of causative variants (141/172) were homozygous, 11 of which were detected in genes previously only associated with autosomal dominant inheritance. Eight families carried two pathogenic variants in different disease genes. De novo (9.3%), X-linked recessive (5.2%) and compound heterozygous (3.5%) variants were less frequent compared to non-consanguineous populations. This cohort provided a unique opportunity to better understand the genetic characteristics of neurogenetic diseases in a consanguineous population. Contrary to what may be expected, causative variants were often not on the longest run of homozygosity and the diagnostic yield was lower in families with the highest degree of consanguinity, due to the high number of homozygous variants in these patients. Pathway analysis highlighted that protein synthesis/degradation defects and metabolic diseases are the most common pathways underlying paediatric neurogenetic disease. In our cohort 164 families (86%) received a diagnosis, enabling prevention of transmission and targeted treatments in 24 patients (10%). We generated an important body of genomic data with lasting impacts on the health and wellbeing of consanguineous families and economic benefit for the healthcare system in Turkey and elsewhere. We demonstrate that an untargeted next generation sequencing approach is far superior to a more targeted gene panel approach, and can be performed without specialized bioinformatics knowledge by clinicians using established pipelines in populations with high rates of consanguinity

“Walls”, The Ancient Issue of Humanity: Challenge of Social Work With “The Other”

The settled one marginalizes the newcomer and defines the existing problem through them. The first reaction against the other is to set boundaries by building a wall. In the second stage, reached after the walls are formed, there is now the inside and outside of the wall. Then, for the settled, the inside is identified with the good, and the outside with the bad. The starting point of this study is the settled society building walls between newcomers and themselves, and through this, othering them. Therefore, this study aims to show the processes and forms of othering of refugees and immigrants in Turkey. In line with the aforementioned purpose, the phenomenon of othering is examined through the (immigrant) “Natashas” and (refugee) Syrians. In this context, for a two-way practice, it is emphasized that the social worker should not only have a strong social inclusion policy for immigrants, but also raise the awareness of the settled society about othering

Tourism and Economic Growth The Case of Next 11 Countries

The aim of this paper is to analyse the relationship between tourism activity and economic growth for Next-11 countries. It is concluded that there is a long run relationship between tourist arrivals and GDP and tourism arrivals has positive effect on GDP growth in N-11 countries. We find that a unidirectional causality from economic growth to tourism is valid confirming Economic Driven Tourism Growth Hypothesis. Keywords: Tourism development; Economic growth; Causality; N-11 JEL Classifications: F43; L8

Severe Complications of Varicella Zoster Virus Infection in Two Children

Infection with Varicella Zoster virus, which is the causative agent of chickenpox, is commonly seen during childhood. It has typically a benign course and can be substantially prevented by vaccination. Rarely, it may result in central nervous system infections. Herein, we report two cases of chickenpox-induced central nervous system infection, one in a refugee. Both patients were not previously vaccinated for varicella. Meningoencephalitis developed in one of the patients due to the varicella. In the other patient, thrombosis developed after meningoencephalitis. This article underlines that, although rare, chickenpox can lead to meningoencephalitis and related serious complications, and highlights the importance of chickenpox vaccination in Turkey where there is a high number of refugees