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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.

© 2022 S. Karger AG, Basel. Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic changes in the ACAN gene located on chromosome 15q26. In this study, we present a case of short stature caused by mutations in the ACAN gene. Case Presentation: A 3-year-3-month-old male patient was referred to us because of his short stature. Physical examination revealed proportional short stature, frontal bossing, macrocephaly, midface hypoplasia, ptosis in the right eye, and wide toes. When the patient was 6 years and 3 months old, his bone age was compatible with 7 years of age. The patient underwent clinical exome sequencing and a heterozygous nonsense c.1243G>T, p.(Glu415∗) pathogenic variant was detected in the ACAN gene. The same variant was found in his phenotypically similar father. Our patient is the second case with ptosis. Discussion: ACAN gene mutation should be considered in the differential diagnosis of patients with idiopathic short stature. The development and widespread use of next-generation sequencing technology has increased the diagnostic and treatment possibilities.

© 2022 by Türkiye Klinikleri.Objective: In this study, the relationship between the MDR1 gene and ankylosing spondylitis (AS) was investigated. Genetic and environmental factors are known to play an important role in the pathogenesis of AS. It is obvious that different patients have different reactions to prescribed drugs and drug dosages during standard treatment. One of these factors is the P-glycoprotein encoded by the MDR1 gene. The most widely studied alleles of this gene are rs1045642-NM_000927.4:c.3435T>C, p. Ile1145Ile (C3435T), rs2032582-NM_000927.4:c.2677T>G/A, p. Ser893Ala/Thr (G2677T/A) and silent rs1128503-NM_000927.4:c.1236T>C, p. Gly412Gly (C1236T). Material and Methods: The study group was formed from 34 patients with biological therapy, 32 patients with other treatments (66 AS patients in total) and 32 healthy individuals. DNA isolation was performed using a High Pure PCR Template Preparation Kit. RNA isolation was performed with TRIzol manual isolation. For quantitative real-time polymerase chain reaction, a Roche LightCycler FastStart DNA Master device HybProbe was used. Results: There was no statistically significant difference between groups regarding the investigated polymorphisms. In the biological therapy [tumor necrosis factor alpha (TNF-α) inhibitor] group, a significant decrease was found in MDR1 gene expression (p

© 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.

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 (< third percentile), length was 100 cm (< tenth percentile), head circumference was 43cm (< 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.

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.

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.

OBJECTIVE: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a new coronavirus responsible for the current pandemic of coronavirus disease 2019 (COVID-19). This virus attacks cells of the airway epithelium by binding transmembrane angiotensin-converting enzyme 2 (ACE2). Hydroxytyrosol has anti-viral properties. Alpha-cyclodextrin can deplete sphingolipids and phospholipids from cell membranes. The aim of the present experimental study was to evaluate the efficacy of alpha-cyclodextrin and hydroxytyrosol in improving defenses against SARS-CoV-2 infection in in vitro cell models and humans.

The biotechnology field has grown rapidly in recent years. Much attention is given to the potential of the biotechnology industry, from drugs and medical devices to environmental products which have the potential to generate tremendous opportunities for society, by improving the quality of health care and producing a cleaner environment. Redbiotechnology, or medical biotechnology, is one of the branches of the biotechnology and utilizes the organism to improve health, both in the pharmaceutical and medical sectors, mainly bringing all the biotechnology applications to medicine. Romanian potential was recognized by important biotech companies as an attractive destination for biotechnology research development. Currently running large programs for research, development, and innovation, regulated within a national implementation strategy, and with an attractive higher education offer, Romania is contributing to biotech advances and has great potential for development of biological pharmaceutical products. It also represents a valuable and promising partner for future international collaborations as biotechnology continues to evolve and will remain a major field of innovation and development in many areas of the world.