Measuring the performance of the Turkish economy in the COVID period and after with the CRITIC, TOPSIS and MABAC methods

Ülkelerin ekonomik performansları, uygulanacak ekonomi politikalarında belirleyici bir öneme sahiptir. Ekonomi politikalarını doğru belirleyebilmek için ekonomik performans ölçümlerinde kullanılacak makroekonomik göstergelerin, ülkenin gerçek durumunu yansıtacak şekilde seçilmesi önemlidir. Ayrıca COVİD salgını süreci, ülkelerin ekonomik göstergeleri üzerinde etkili olmuştur. Çalışma kapsamında, 2020 – 2022 yıllarını kapsayan dönemde, GSYH büyüme hızı, enflasyon oranı, işsizlik oranı, cari denge ve bütçe dengesinin GSYH’ya oranlarına ilişkin çeyrek dönemlik veriler kullanılarak Türkiye ekonomisinin performansı ölçülmüştür. Çalışmada makroekonomik göstergelerin ağırlıkları CRİTİC yöntem ile belirlenmiş, ÇKKV tekniklerinden TOPSİS ve MABAC yöntemleri ile performans ölçümü gerçekleştirilmiştir. TOPSİS yöntemi ile yapılan performans ölçümü sonucunda, Türkiye ekonomisinin en iyi performansı sergilediği dönemin 2021:Q1 dönemi olduğu, en kötü performansı sergilediği dönemin ise 2020:Q2 dönemi olduğu belirlenmiştir. MABAC yöntemi ile yapılan performans ölçümü sonucunda ise, en iyi performansın 2022:Q2 döneminde, en kötü performansın ise 2020:Q2 döneminde sergilendiği sonucuna ulaşılmıştır. Ayrıca, TOPSİS ve MABAC yöntemlerinin performans sıralama sonuçlarının kötü ekonomik performans dönemlerinde benzerlik göstermesine rağmen genellikle ayrıştığı söylenebilir.The economic performances of the countries have a decisive importance in the economic policies to be implemented. In order to determine the economic policies correctly, it is important to choose the macroeconomic indicators to be used in economic performance measurements in a way that reflects the real situation of the country. In addition, the process of the COVID epidemic has had an impact on the economic indicators of the countries. Within the scope of the study, the performance of the Turkish economy was measured using quarterly data on the ratios of GDP growth rate, inflation rate, unemployment rate, current account balance and budget balance to GDP in the period covering the years 2020-2022. In the study, the weights of macroeconomic indicators were determined by the CRITIC method, and performance measurement was carried out with TOPSIS and MABAC methods, which are MCDM techniques. As a result of the performance measurement made with the TOPSIS method, it was determined that the period with the best performance of the Turkish economy was 2021: Q1 and the period with the worst performance was 2020: Q2. As a result of the performance measurement made with the MABAC method, it was concluded that the best performance was in the period of 2022: Q2, and the worst performance was in the period of 2020: Q2. In addition, it can be said that although the performance ranking results of TOPSIS and MABAC methods are similar in periods of bad economic performance, they generally diverge

Oncology: Genomics, Precision Medicine and Therapeutic Targets

A common cause of all cancers leads us to a common definition. This definition is mutation. Cancer cells tend to constantly resist irregularity under the influence of the thermodynamic process in their microenvironment. At the end of this dynamic process, the changes that occur in the genome of the cell and the cumulative effect of these changes can cause the cell to be isolated from its cell community and act as an independent cell. Cancers describe a clonal increase in the number of cells that will cause a cell to lose control of itself against signals from its environment, allowing it to reproduce independently. One of the biggest reasons for this clonal increase is the genomic changes that occur in both protooncogenes and oncogenes.</p

A male individual with t(2;7)(p23;q35) anomaly: A case report

Recurrent pregnancy loss (RPL) is a phenomenon caused by many etiologies. The majority of these causes are chromosomal anomalies. Inthis case report, cytogenetic analysis was applied to the family who consulted to our department with the complaint of RPL, and a normalkaryotype was found in the woman (46, XX). However, t(2;7)(p23;q35) translocation was detected in the male. Reciprocal translocations area common class of chromosomal abnormalities and we anticipate that this case of translocation will be a new cause for RPL. In the analysis,preparations at the level of 500 bands were examined. At least 20 metaphase areas were evaluated. From the results of cytogenetic and FISHanalysis, we determined that the patient had t(2;7)(p23;q35) chromosomal anomaly. The probe binding the patient's 2p23 region signaledat the q-terminal of the chromosome 7. However, the other two chromosomes (2 and 7) were normal. We could not find such a case in theliterature for recurrent pregnancy loss complaints. With this case, it will be reported for the first time in the literature that the embryo formedwith the gametes carrying unbalanced genetic material of an individual with the karyotype 46,XY,t(2;7)(p23;q35) is incompatible with life.</p

Türkiye klinikleri Tıbbi Genetik

Nadir hastalıklar toplumda belirli bir sıklığın altında görülen ancak birlikte değerlendirildiğinde toplum sağlığı için ciddi bir sorun oluşturan bir hastalık grubudur. Önemli bir kısmı kalıtsal olup tüm yaş gruplarını etkilese de genellikle çocuklar daha sık etkilenir. Nadir hastalıkların çoğunun kesin tedavisi bulunmamaktadır, ancak son yıllardaki biyoteknolojik gelişmeler hastalıkların patofizyolojisini daha iyi anlayıp ilaç geliştirme süreçlerini hızlandırmıştır. Bu derlemede nadir hastalıklara genel bir bakış sağlandıktan sonra orphan (yetim) ilaç geliştirme süreçleri hakkında bilgi verilmiştir. Ayrıca biyoteknolojik ilaçların mekanizmalarına göre sınıflandırılması, her sınıfın mevcut örnekleri, geliştirilmekte olan aday tedaviler ve ilaç geliştirme sürecinde yaşanan zorluklar tartışılmıştır.Rare diseases are a group of diseases that are less frequent than a certain threshold, but, on the whole, cause a serious public health burden. A significant amount of them are hereditary, and although encountered in all ages, they mostly affect children. Most rare diseases have no definitive treatment. Nevertheless, biotechnological progress helped us comprehend their pathophysiology and accelerated drug development processes. In this review, a general insight into the rare diseases is provided, followed by advancements in orphan drug development processes. The classification of the biotechnological therapies depending on their mechanism of action, current examples, candidate therapy modalities, and challenges faced during drug development are also discussed.</p

Diagnosing Alström syndrome in a patient followed up with syndromic obesity for years

Alström syndrome (AS) is a rare autosomal recessive monogenic disorder caused by mutations of the Alström syndrome 1 (ALMS1) gene, located on chromosome 2p13. It is a progressive multisystemic disease characterized mostly by obesity, sensorineural hearing loss, visual impairments, cardiomyopathy, insulin resistance and/or type 2 diabetes mellitus (T2DM), metabolic dysfunctions, non-alcoholic fatty liver disease, and chronic progressive kidney disease. Generally, the first clinical symptoms of the disease appear in the first years of life with a major variation of onset age. In this study, we aimed to examine the molecular diagnosis of a 6-year-old patient with suspected AS clinical symptoms. After applying clinical exome sequencing (CES) in the patient we found a homozygous deletion in exon 8 at the ALMS1 gene (c.2311_2312del). We identified a homozygous frameshift mutation. The reported variant was pathogenic according to the criteria of the American College of Medical Genetics and Genomics (ACMG). Thus, the patient was diagnosed with AS as a result of the combined clinical phenotype and genetic tests results. We hope the variant we found can expand the spectrum of ALMS1 variants in AS

A case with extra derivative choromosome 22

The Emanuel syndrome is a chromosomal disorder characterized by partial duplication of chromosomes 11 and 22, or supernumerary der(22)t(11;22). It is an unbalanced translocation syndrome, usually resulting from 3:1 meiosis I malsegregation during gametogenesis. Der(22)usually occurs as a result of a balanced reciprocal translocation inherited from the parents. Clinical features of the disease include growthretardation, microcephaly, severe intellectual disability and cardiac anomalies.A four-year and eight-month-old female patient was referred to our clinic from pediatric neurology due to microcephaly, hypotonia andchoreoathetotic movements. Her weight was 11kg (&lt; third percentile), length was 100 cm (&lt; tenth percentile), head circumference was 43cm (&lt; third percentile). Her physical examination revealed mental retardation, arachnodacty, upslanting palpebral fissure, and narrowforehead. Echocardiography displayed the patent ductus arteriosus and minimal mitral regurgitation.As a result of the karyotype analysis performed with the patient's peripheral blood sample, 47,XX,+marker chromosomal anomaly wasdetected. Chromosomal microarray analysis was performed on the patient to investigate the origin of the marker chromosome. Microarrayrevealed a duplication of 18.3 MB in the terminal region of the long arm of chromosome 11 and 3.8 Mb in the long arm of chromosome 22.The karyotype analyzes of accomplished her parents were performed and a balanced reciprocal translocation was detected in thephenotypically normal her mother as 46,XX,t(11;22)(q23.3;q11.2).The aim of this study was to show that the use of cytogenetic and molecular cytogenetic analyses together plays an important role inuncovering the etiology of the derivative chromosome