Turner syndrome and associated problems in turkish children: A multicenter study

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosi) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. © Journal of Clinical Research in Pediatric Endocrinology

Neuromuscular disease genetics in under-represented populations: increasing data diversity

Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked genetic data inequality hampers understanding of genetic diversity and hinders accurate genetic diagnosis in all income settings. We developed a cloud-based transcontinental partnership to build diverse, deeply-phenotyped and genetically characterized cohorts to improve genetic architecture knowledge, and potentially advance diagnosis and clinical management. We connected 18 centres in Brazil, India, South Africa, Turkey, Zambia, Netherlands and the UK. We co-developed a cloud-based data solution and trained 17 international neurology fellows in clinical genomic data interpretation. Single gene and whole exome data were analysed via a bespoke bioinformatics pipeline and reviewed alongside clinical and phenotypic data in global webinars to inform genetic outcome decisions. We recruited 6001 participants in the first 43 months. Initial genetic analyses ‘solved’ or ‘possibly solved’ ∼56% probands overall. In-depth genetic data review of the four commonest clinical categories (limb girdle muscular dystrophy, inherited peripheral neuropathies, congenital myopathy/muscular dystrophies and Duchenne/Becker muscular dystrophy) delivered a ∼59% ‘solved’ and ∼13% ‘possibly solved’ outcome. Almost 29% of disease causing variants were novel, increasing diverse pathogenic variant knowledge. Unsolved participants represent a new discovery cohort. The dataset provides a large resource from under-represented populations for genetic and translational research. In conclusion, we established a remote transcontinental partnership to assess genetic architecture of NMDs across diverse populations. It supported DNA-based diagnosis, potentially enabling genetic counselling, care pathways and eligibility for gene-specific trials. Similar virtual partnerships could be adopted by other areas of global genomic neurological practice to reduce genetic data inequality and benefit patients globally

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment

Sponge fauna in the sea of marmara [Marmara denizi sünger faunası]

Sponge species collected along the coasts of the Marmara Sea in 2012-2013 were studied. A total of 28 species belonging to 19 families were found, of which four species (Ascandra contorta, Paraleucilla magna, Raspailia (Parasyringella) agnata and Polymastia penicillus) are new records for the eastern Mediterranean, while six species [A. contorta, P. magna, Chalinula renieroides, P. penicillus, R. (P.) agnata and Spongia (Spongia) nitens] are new records for the marine fauna of Turkey and 12 species are new records for the Sea of Marmara. Sponge specimens were generally collected in shallow water, but two species (Thenea muricata and Rhizaxinella elongata) were found at depths deeper than 100 m. One alien species (P. magna) was found at 10 m depth at station K18 (Büyükada). The morphological and distributional features of the species that are new to the Turkish marine fauna are presented. © Published by Central Fisheries Research Institute (CFRI) Trabzon, Turkey

Denizli için jeolojik-jeoteknik kent bilgi sistemi

Yerleşim alanlarının seçiminde, jeolojik ve jeoteknik amaçlı arazi ve laboratuvar çalışmaları yapılarak, değişik bilgilen içeren farklı türde haritalar hazırlanmaktadır. Bu çalışmada, Denizli yerleşim alanına ait jeolojik ve jeoteknik veriler değerlendirilerek Denizli ili Jeolojik ve Jeoteknik Kent Bilgi Sistemi (JEO-KBS) C++ programlama dilinde yazılmış ve uygulamaya başlanmıştır. Kent bilgi sistemi içinde; topografya, imar, jeoloji, jeoteknik, sondaj, yeraltısuyu seviyesi ve jeofizik veri tabanları oluşturulmuştur. Ayrıca bölgenin depremselliği ve faylanma sistemleri ile ilişkisinin incelendiği deprem veri tabanı da hazırlanmıştır. Bu sistem aracılığıyla; inceleme alanındaki her sondaj yeri için sıvılaşma potansiyeli analizleri yapılmıştır. Yerleşim alanında yapılan jeofizik ölçümlere ilişkin veriler de sistemin veri tabanında yeralmaktadır. Tüm veriler değerlendirilerek; yerleşim açısından mühendislik önlemi alınmasını gerektiren, yerleşime kapalı tutulması gereken ve yerleşime uygun olan alanlar belirlenmiştir

An integrated mathematical model for the milk collection problem

The number of microorganisms and chemical values of the milks separated according to their quality are different from each other. In case of mixing different quality types of milk, composed milk quality is considered equal to the lowest quality milk type among the types of milk added to the mixture. Therefore, different types of raw milk should not be mixed during collection. The problem of milk collection is related to the collection of raw milk, which is separated according to the quality types, from the producers at different points by multi-tank tankers. In this study, an integrated mathematical model has been developed to collect different quality types of raw milk at different points under the specified time limit by means of tankers having multiple tanks. The results obtained by solving a hypothetical case study with ILOG CPLEX show that proposed model allows to optimally collect different type of raw milks without mixing. Thus, it will be possible to produce higher quality dairy products

An integrated mathematical model for the milk collection problem

The number of microorganisms and chemical values of the milks separated according to their quality are different from each other. In case of mixing different quality types of milk, composed milk quality is considered equal to the lowest quality milk type among the types of milk added to the mixture. Therefore, different types of raw milk should not be mixed during collection. The problem of milk collection is related to the collection of raw milk, which is separated according to the quality types, from the producers at different points by multi-tank tankers. In this study, an integrated mathematical model has been developed to collect different quality types of raw milk at different points under the specified time limit by means of tankers having multiple tanks. The results obtained by solving a hypothetical case study with ILOG CPLEX show that proposed model allows to optimally collect different type of raw milks without mixing. Thus, it will be possible to produce higher quality dairy products.C1 [Polat, Olcay; Kalayci, Can Berk; Topaloglu, Duygu] Pamukkale Univ, Engn Fac, Dept Ind Engn, Denizli, Turkey.[Bilgen, Bilge] Dokuz Eylul Univ, Engn Fac, Dept Ind Engn, Izmir, Turkey