4th Chromosome Research Articles

A collection of split-Gal4 drivers targeting conserved signaling ligands in Drosophila.

Communication between cells in metazoan organisms is mediated by a remarkably small number of highly conserved signaling pathways. Given the relatively small number of signaling pathways, the existence of multiple related ligands for many of these pathways is thought to represent a key evolutionary innovation for encoding complexity into cell-cell signaling. Relatedly, crosstalk and other interactions between pathways is another critical feature which allows a modest number pathways to ultimately generate an enormously diverse range of outcomes. It would thus be useful to have genetic tools to identify and manipulate not only those cells which express a given signaling ligand, but also those cells that specifically co-express pairs of signaling ligands. Here, we present a collection of split-Gal4 knock-in lines targeting many of the ligands for highly conserved signaling pathways in Drosophila (Notch, Hedgehog, FGF, EGF, TGF β , JAK/STAT, JNK, and PVR). We demonstrate that these lines faithfully recapitulate the endogenous expression pattern of their targets, and that they can be used to specifically identify the cells and tissues that co-express pairs of signaling ligands. As a proof of principle, we demonstrate that the 4th chromosome TGF β ligands myoglianin and maverick are broadly co-expressed in muscles and other tissues of both larva and adults, and that the JAK/STAT ligands upd2 and upd3 are partially co-expressed from cells of the midgut following gut damage. Together with our previously collection of split-Gal4 lines targeting the seven Wnt ligands, this resource allows Drosophila researchers to identify and genetically manipulate cells that specifically express pairs of conserved ligands from nearly all the major intercellular signaling pathways.

Occurrence of Emphysema in Individuals With Williams-Beuren Syndrome: A Narrative Review

BackgroundWilliams-Beuren syndrome (WBS) is a multisystem genetic condition characterized by a submicroscopic deletion on the 7th chromosome (7q11.23), which usually includes the elastin gene. Research QuestionThough the elastin deficiency in WBS can predispose to emphysema, the prevalence of emphysema in WBS is unknown. This narrative review aims to address this gap by estimating the frequency of emphysema (or suggestive features thereof) in patients with WBS, with a special focus on concomitant alpha-1 antitrypsin deficiency. MethodsLiterature was reviewed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. ResultsOf 419 studies identified by the search strategy, 19 eligible studies reported 393 adult patients with WBS. The criteria by which emphysema was assessed varied greatly among the relatively few reports addressing this issue. Chest CT evidence of emphysema was reported in 3 of 26 (11.5%) patients. Physiologic evidence of airflow obstruction, though not definitive for emphysema (i.e., with asthma not excluded) was present in as many as 38.6%. Considering studies that reported multi-organ clinical manifestations of WBS, irrespective of whether chest CT imaging and/or pulmonary function testing was reported, the frequency of spirometric and imaging signs suggestive of emphysema was 4.3%. Emphysema was not reported in any of the 11 patients with concomitant PI*MZ heterozygous alpha-1 antitrypsin deficiency. InterpretationIn the context that only few adults with WBS have been fully characterized regarding the occurrence of emphysema, confidently estimating the prevalence of emphysema is difficult. This review shows that the frequency of imaging and PFT abnormalities suggestive of emphysema seems relatively low in the context that the elastin deficiency of WBS clearly can predispose to emphysema, and that other manifestations of elastin deficiency are present early in life. Acknowledging the challenges of studying uncommon diseases or syndromes, more systematic study of adults with WBS is needed.

Nasopharyngeal arteriovenous malformation. Rare clinical observation

Arteriovenous malformation (AVM) of the head and neck is a rare disease developing during embryo- and vasculogenesis due to RASA1 mutation which is inherited in accordance with autosomal dominant pattern and is associated with CMC1 locus on the long arm of the 5th chromosome 5q13.3. Statistically, AVMs are rarer than other congenital vascular abnormalities such as lymphatic or venous malformations. While AVMs are non-malignant neoplasms, among all vascular abnormalities they are the most aggressive, destructive and complex in their structure. In international literature, a small number of articles describing cases of this pathology exists (for example, I.T. Jackson et al. analyzed 16 cases of this pathology, M.T. Chen et al. reported on 14 cases, M.P. Kohaut et al. analyzed 81 cases of extracranial AVMs).In Russin literature, the number of articles describing clinical cases of AVM is in the single digits, and this topic remains quite relevant. The article presents a rare clinical observ

Structural and functional characteristics and expression profile of the 20S proteasome gene family in Sorghum under abiotic stress

The 26S proteasome is a molecular machine that catalyzes and degrades protein intracellularly with the help of its core complex called 20S proteasome. The 20S proteasomes degrade and cleave denatured, cytotoxic, damaged, and unwanted proteins via proteolysis and impart biotic and abiotic stress tolerance in model plants. This study identified 20 genes, namely, 10 SbPA and 10 SbPB that encode for α- and β-subunits of the 20S proteasome in Sorghum bicolor (L.) Moench (2n= 20). These genes have been found distributed on the 1st, 2nd, 3rd, 4th, 5th, 7th, and 10th chromosomes. These sorghum genes were orthologous to corresponding rice. Phylogenetic analysis clustered these genes into seven clades, each with one of the seven α-subunits (1 to 7) and one of the seven β-subunits (1 to 7). In silico gene expression analysis suggested that nine genes were involved in abiotic stress response (cold, drought, and abscisic acid hormone). The expression of these proteasomal genes was studied in shoots and roots exposed to different abiotic stresses (cold, drought, and abscisic acid) by quantitative real-time polymerase chain reaction. A significant increase in the relative fold expression of SbPBA1, SbPAA1, SbPBG1, SbPBE1, and SbPAG1 genes under ABA and drought stress provides an insight into its involvement in abiotic stress. No expression was observed for cold stress of these genes indicating their non-involvement. It is believed that additional investigation into the SbPA/SbPB genes would aid in the creation of S. bicolor cultivars that are resistant to climate change.

Fourth Chromosome Resource Project: a comprehensive resource for genetic analysis in Drosophila that includes humanized stocks.

The fourth chromosome is the final frontier for genetic analysis in Drosophila. Small, heterochromatic, and devoid of recombination the fourth has long been ignored. Nevertheless, its long arm contains 79 protein-coding genes. The Fourth Chromosome Resource Project (FCRP) has a goal of facilitating the investigation of genes on this neglected chromosome. The project has 446 stocks publicly available at the Bloomington and Kyoto stock centers with phenotypic data curated by the FlyBase and FlyPush resources. Four of the five stock sets are nearly complete: (1) UAS.fly cDNAs, (2) UAS.human homolog cDNAs, (3) gene trap mutants and protein traps, and (4) stocks promoting meiotic and mitotic recombination on the fourth. Ongoing is mutagenesis of each fourth gene on a new FRT-bearing chromosome for marked single-cell clones. Beyond flies, FCRP facilitates the creation and analysis of humanized fly stocks. These provide opportunities to apply Drosophila genetics to the analysis of human gene interaction and function. In addition, the FCRP provides investigators with confidence through stock validation and an incentive via phenotyping to tackle genes on the fourth that have never been studied. Taken together, FCRP stocks will facilitate all manner of genetic and molecular studies. The resource is readily available to researchers to enhance our understanding of metazoan biology, including conserved molecular mechanisms underlying health and disease.

WILLIAMS SYNDROME IN PEDIATRIC PRACTICE

This clinical case presents our observations of a 5-month-old boy diagnosed with Williams’s syndrome, highlighting the complexities of recognizing this condition, especially in the early stages of life, where paediatricians and neonatologists play a crucial role in the diagnostic process. Williams’s syndrome is a rare genetic disorder, affecting approximately 1 in 10,000 newborns across different ethnic groups and genders. The condition is primarily caused by a mutation in a group of genes located on the long arm of the 7th chromosome (7q11.23), leading to microdeletion and the loss of specific genes, including elastin, LIM-kinase-1, and replication factor C2 (RFC), while some "lost" genes remain unidentified. In rarer cases, deletions are found on the 11th and 12th chromosomes (11q13-q14 and 22q). This syndrome often presents sporadically, complicating early diagnosis due to its multisystem nature, affecting various organs and systems, such as the cardiovascular, nervous, muscular, urinary, and facial structures. The absence of timely diagnosis and treatment can adversely impact physical and neuropsychological development in affected children. In our case, the final diagnosis was confirmed through molecular genetic examination. Our conclusion highlights the challenges of diagnosing Williams’s syndrome due to its multisystem clinical manifestations. Early diagnosis is essential for parents to gain insights into the disease, its prognosis, and to make informed decisions about raising the child within the family. We recommend a comprehensive approach to the care and rehabilitation of patients with Williams’s syndrome. This necessitates the coordinated efforts of various specialists including paediatricians, geneticists, cardiologists, surgeons, orthopaedists, orthodontists, endocrinologists, ophthalmologists, neurologists, and psychologists throughout the patient's follow-up care.

Screening of NCLB Disease and QTLs Mapping in Zea mays

Northern Corn Leaf Blight (NCLB) is a foliar disease, caused by a fungal pathogen (Setosphaeria turcica) that damages maize crop due to heavy losses in every year. A study was conducted for NCLB and identified quantitative trait loci (QTLs) in maize. Mapping population F2:3 families was developed involving two inbreds viz CM 212 (susceptible) & CM 145 (resistant).The F2:3 families mapping population was evaluated in two environments (BHU, Varanasi and Nagenahalli, Mandya) for resistance to NCLB. In the polymorphic survey about 360 pairs of simple sequence repeat (SSR) primer used between two parents (CM 212 & CM 145)and identified 54 polymorphic markers. Data was recorded for disease severity traits viz Percent Disease Index (PDI), Area Under Disease Progress Curve (AUDPC) based on PDI, Lesion Area, AUDPC based on lesion area in QTL Mapping. The QTLs were identified interestingly, on 4th chromosome viz: 4.03/4.05, 4.08/4.1, 4/4.07 and 4.08/4.1 from observed disease severity in both environments. The initially two QTLs (QTL-1 & QTL-2) detected with trait Percent Disease Index and other two (QTL 3 & QTL 4) detected with AUDPC based on PDI.

ANESTHETIC CHALLENGES IN A PATIENT WITH MYOTONIA CONGENITA- A CASE REPORT

Background: Myotonia congenita (MC) was rst described as a skeletal muscle disorder by Thomsen in 1876. As a result of the mutation of the chloride channel gene (CLCN1), which is on the 17th chromosome, patients suffer from muscle contractility and fatigue. Autosomal dominance and autosomal recessive heredity gene may present in this disease. The prevalence of MC is 1/100000 all over the world. In this disease, muscle contraction, hypertrophy and contracture are present without muscle weakness. Dysphagia, aspiration and cardiomyopathy are frequent symptoms. The most important complication is malignant hyperthermia in these patients. A 27-year-old male who Case Report: is a known case of myotonia congenita and on Tablet Phenytoin for past 10 years posted for orthognathic surgery. TIVA (Total intravenous anesthesia) was planned for the patient. Precautions were taken to prevent fatal malignant hyperthermia For the Conclusion: conduct of anesthesia in a patient with myotonia congenita preoperative evaluation, laboratory tests, relevant consultations, anesthetic drugs to be used, normothermia and ICU follow-up in postoperative period are very important. If anesthesiologist can't obtain dantrolene natrium, TIVA could be a safe solution with the precautions that were present above

Genetic screening of PLA1/PLA2 polymorphous marker of integrin beta 3 (ITGB3) GP IIIA gene in adolescent girls with puberty menorrhagia.

Puberty menorrhagia is one of the urgent problems of modern reproductive medicine. The study aimed to investigate the relationship between polymorphism of the GP IIIa (PLA1/PLA2) gene and improve the diagnosis of puberty menorrhagia in girls with thyroid gland pathology. Ninety-seven girls at puberty age were divided into three groups: group 1 (main) - girls with puberty menorrhagia and thyroid gland pathology (30 individuals), group 2 (comparison) - 40 girls with puberty menorrhagia, group 3 (control) - 27 practically healthy girls. Polymorphism of the GP IIIa (PLA1/PLA2) gene was studied by isolating genomic DNA from peripheral blood leukocytes, followed by amplification with a polymerase chain reaction. Results showed that mutation in the 17th chromosome of q21.32 of the GP IIIa gene occurred in 8.6% of cases among adolescents with menorrhagia, in contrast to the control group, where it was not observed at all. The A1A1-genotype occurred by 11.7% (X2=4.01, p=0.041) more often in adolescents with menorrhagia than in girls with concomitant thyroid gland pathology and by 15.0% (X2=4.54, p=0.033) more often than in the control group. It was also found that the presence of the A1A2-genotype unreliably reduced the chances of uterine bleeding in adolescent girls by 1.45 times (OR=2.12) and was a protective factor in the puberty menorrhagia occurrence (OR=0.47). It may be concluded that the identification of a hereditary factor of the reproductive system diseases of adolescent girls fundamentally changes the point of view on the tactics of disease management and subsequent therapy.

Molecular analysis of resistance gene locus to bacterial canker and wilting disease in tomato mutants

The tomato plant is one of the most widely produced vegetables in the world. However, there are several disease factors which limit tomato production. The Clavibacter michiganensis subsp. michiganensis (Cmm) pathogen causes wilting and canker symptoms on the leaves of plants and bird’s eye symptoms on the tomato and then the plants completely die. Development of resistant tomato varieties is prerequisite due to absence of an effective control methods against the bacterial disease. The resistant M3-9 and M3-15 tomato plants have been developed because of mutation from susceptible NCEBR3 tomato seeds with ethyl methanosulfonate (EMS). For each chromosome of the tomato genome, 24 SSR markers were selected from each end of the haploid, 12 tomato chromosomes, and polymorphic differences between susceptible and resistant tomato plants were studied. Polymorphisms were found with SSR13 and SSRB18031 markers located on chromosome 5 with resistant mutants, M3-9, M3-15 and susceptible original NCEBR3 plants. It is envisaged that a resistance gene is located on the 5th chromosome of resistant M3-9 and M3-15 plants. Further fine mapping studies will reveal the location of the resistance gene(s) for controlling bacterial canker and wilting pathogen.

A glycogen storage disease type 1a patient with type 2 diabetes

BackgroundGlycogen storage disease type 1a (GSD1a) is an inborn genetic disease caused by glucose-6-phosphatase-α (G6Pase-α) deficiency and is often observed to lead to endogenous glucose production disorders manifesting as hypoglycemia, hyperuricemia, hyperlipidemia, lactic acidemia, hepatomegaly, and nephromegaly. The development of GSD1a with diabetes is relatively rare, and the underlying pathogenesis remains unclear.Case presentationHere we describe a case of a 25-year-old Chinese female patient with GSD1a, who developed uncontrolled type 2 diabetes mellitus (T2DM) as a young adult. The patient was diagnosed with GSD1a disease at the age of 10 and was subsequently treated with an uncooked cornstarch diet. Recently, the patient was treated in our hospital for vomiting and electrolyte imbalance and was subsequently diagnosed with T2DM. Owing to the impaired secretory function of the patient’s pancreatic islets, liver dysfunction, hypothyroidism, severe hyperlipidemia, and huge hepatic adenoma, we adopted diet control, insulin therapy, and hepatic adenoma resection to alleviate this situation. The WES discovered compound heterozygous mutations at the exon 5 of G6PC gene at 17th chromosome in the patient, c.648G>T (p.L216 L, NM_000151.4, rs80356484) in her father and c.674T>C (p.L225 P, NM_000151.4, rs1555560128) in her mother. c.648G>T is a well-known splice-site mutation, which causes CTG changing to CTT at protein 216 and creates a new splicing site 91 bp downstream of the authentic splice site, though both codons encode leucine. c.674T>C is a known missense mutation that causes TGC to become CGC at protein 225, thereby changing from coding for leucine to coding for proline.ConclusionWe report a rare case of GSD1a with T2DM. On the basis of the pathogenesis of GSD1a, we recommend attentiveness to possible development of fasting hypoglycemia caused by GSD and postprandial hyperglycemia from diabetes. As the disease is better identified and treated, and as patients with GSD live longer, this challenge may appear more frequently. Therefore, it is necessary to have a deeper and more comprehensive understanding of the pathophysiology of the disease and explore suitable treatment options.

Comparative cytogenetics on eight Malagasy Mantellinae (Anura, Mantellidae) and a synthesis of the karyological data on the subfamily.

We performed a molecular and cytogenetic analysis on different Mantellinae species and revised the available chromosomal data on this group to provide an updated assessment of its karyological diversity and evolution. Using a fragment of the mitochondrial 16S rRNA, we performed a molecular taxonomic identification of the samples that were used for cytogenetic analyses. A comparative cytogenetic analysis, with Giemsa’s staining, Ag-NOR staining and sequential C-banding + Giemsa + CMA + DAPI was performed on eight species: Gephyromantis sp. Ca19, G.striatus (Vences, Glaw, Andreone, Jesu et Schimmenti, 2002), Mantidactylus (Chonomantis) sp. Ca11, M. (Brygoomantis) alutus (Peracca, 1893), M. (Hylobatrachus) cowanii (Boulenger, 1882), Spinomantispropeaglavei “North” (Methuen et Hewitt, 1913), S.phantasticus (Glaw et Vences, 1997) and S. sp. Ca3. Gephyromantisstriatus, M. (Brygoomantis) alutus and Spinomantispropeaglavei “North” have a karyotype of 2n = 24 chromosomes while the other species show 2n = 26 chromosomes. Among the analysed species we detected differences in the number and position of telocentric elements, location of NOR loci (alternatively on the 6th, 7th or 10th pair) and in the distribution of heterochromatin, which shows species-specific patterns. Merging our data with those previously available, we propose a karyotype of 2n = 26 with all biarmed elements and loci of NORs on the 6th chromosome pair as the ancestral state in the whole family Mantellidae. From this putative ancestral condition, a reduction of chromosome number through similar tandem fusions (from 2n = 26 to 2n = 24) occurred independently in Mantidactylus Boulenger, 1895 (subgenus Brygoomantis Dubois, 1992), Spinomantis Dubois, 1992 and Gephyromantis Methuen, 1920. Similarly, a relocation of NORs, from the putative primitive configuration on the 6th chromosome, occurred independently in Gephyromantis, Blommersia Dubois, 1992, Guibemantis Dubois, 1992, Mantella Boulenger, 1882 and Spinomantis. Chromosome inversions of primitive biarmed elements likely generated a variable number of telocentric elements in Mantellanigricans Guibé, 1978 and a different number of taxa of Gephyromantis (subgenera Duboimantis Glaw et Vences, 2006 and Laurentomantis Dubois, 1980) and Mantidactylus (subgenera Brygoomantis, Chonomantis Glaw et Vences, 1994, Hylobatrachus Laurent, 1943 and Ochthomantis Glaw et Vences, 1994).

Association mapping, trait variation, interaction and population structure analysis in cucumber (Cucumis sativus L.)

In several regions of the world, low productivity in this crop is attributed to several factors including poor understanding of the genomic complexity of important traits associated with fruit quality and yield. Therefore, genome wide association analysis was performed for important traits using simple sequence repeats (SSR) markers. Significant variation was recorded for all the studied traits in 78 cucumber genotypes under two environments (open field and net house) which indicated that the constituted association panel was suitable for association mapping. Genotyping was done using 60 highly polymorphic SSRs. By performing genome scanning out of 60 SSR markers, using mixed linear model (MLM) approach 4 and 6 markers explained an average of 23.93% and 17.37% of the trait variation under net house and open field condition, respectively. Based on MLM approach two markers on 3rd chromosome (UW084942) and 4th chromosome (UW062953) found to be associated with the average fruit weight (g) under both net house and open field condition. Population structure analysis revealed four distinct sub-populations that corroborated with the geographical origin as well as fruit quality and quantitative traits. The four sub-populations (A–D) had fixation index percentage equal to 24.35 29.48, 37.17 and 8.97 respectively, supporting the existence of moderate population structures. Therefore, the extensive phenotypic and genotypic characterization, population structure, and markers associated with important traits provided in this study will facilitate marker assisted improvement programs in cucumber.

New resources for the Drosophila 4th chromosome: FRT101F enabled mitotic clones and Bloom syndrome helicase enabled meiotic recombination.

Genes on the long arm of the Drosophila melanogaster 4th chromosome are difficult to study because the chromosome lacks mitotic and meiotic recombination. Without recombination numerous standard methods of genetic analysis are impossible. Here, we report new resources for the 4th. For mitotic recombination, we generated a chromosome with an FRT very near the centromere in 101F and a derivative that carries FRT101F with a distal ubiquitously expressed GAL80 transgene. This pair of chromosomes enables both unmarked and MARCM clones. For meiotic recombination, we demonstrate that a Bloom syndrome helicase and recombination defective double mutant genotype can create recombinant 4th chromosomes via female meiosis. All strains will be available to the community via the Bloomington Drosophila Stock Center. Additional resources for studies of the 4th are in preparation and will also be made available. The goal of the 4th Chromosome Resource Project is to accelerate the genetic analysis of protein-coding genes on the 4th, including the 44 genes with no demonstrated function. Studies of these previously inaccessible but largely conserved genes will close longstanding gaps in our knowledge of metazoan development and physiology.

Anesthetic management of a patient with myotonia congenita

Myotonia congenita is also known as Becker’s disease. It is a genetic disorder in which skeletal muscles are unable to relax quickly after voluntary movements. Symptoms may vary from person to person and may include muscle stiffness and weakness initiated by movement after rest.
 Myotonia congenita was first described by Thomsen in 1876 as a disorder of skeletal muscles. Patients suffer from muscle contractility and fatigue which occurs as a consequence of the mutation of the chloride channel gene on the 17th chromosome. These patients have a high risk of developing malignant hyperthermia during anesthesia, and call for full preparation to prevent and deal with this complication.
 Key words: Becker’s disease; Myotonia congenita; Anesthesia; Malignant hyperthermia
 Citation: Hasan SS. Anesthetic management of a patient with myotonia congenita. Anaesth. pain intensive care 2021;25(6):816–818 ;
 DOI: 10.35975/apic.v25i6.1712
 Received: August 25, 2021, Reviewed: September 19, 2021, Accepted: October 03, 2021

Expression and prognostic significance of m6A-related genes in TP53-mutant non-small-cell lung cancer.

BackgroundTP53 is an important tumor suppressor gene on human 17th chromosome with its mutations more than 60% in tumor cells. Lung cancer is the highest incidence malignancy in men around the world. N‐6 methylase (m6A) is an enzyme that plays an important role in mRNA splicing, translation, and stabilization. However, its role in TP53‐mutant non‐small‐cell lung cancer (NSCLC) remains unknown.MethodFirst, we investigated 17 common m6A regulators' prognostic values in NSCLC. Then, after the establishment of risk signature, we explored the diagnostic value of m6A in TP53‐mutant NSCLC. Finally, gene set enrichment analysis (GSEA), gene ontology (GO) enrichment analysis, and differential expression analysis were used to reveal the possible mechanism of m6A regulators affecting TP53‐mutant NSCLC patients.ResultsStudy showed that nine m6A regulators (YTHDC2, METTL14, FTO, METTL16, YTHDF1, HNRNPA2B1, RBM15, KIAA1429, and WTAP) were expressed differently between TP53‐mutant and wild‐type NSCLC (p < 0.05); and ALKBH5 and HNRNPA2B1 were associated with the prognostic of TP53‐mutant patients. After construction of the risk signature combined ALKBH5 and HNRNPA2B1, we divided patients with TP53 mutations into high‐ and low‐risk groups, and there was a significant survival difference between two groups. Finally, 338 differentially expression genes (DEGs) were found between high‐ and low‐risk groups. GO enrichment analysis, PPI network, and GSEA enrichment analysis showed that m6A may affect the immune environment in extracellular and change the stability of mRNA.ConclusionIn conclusion, m6A regulators can be used as prognostic predictors in TP53‐mutant patients.

Regular Exercise, Thombocyte, Collagen and Breast Cancer

Platelets, which play a very important role in the continuation of vital activities, play an important role in blood coagulation. Various chronic diseases can reduce the platelets produced by our body below the standard level or increase them in a dangerous way. Diseases related to malignancy, that is, malignant tumors, come at the beginning of the diseases that disrupt the platelet balance. One of them is breast cancer. Breast cancer is a type of cancer that occurs as a result of mutations in the BRCA1 (17q21) and P53 (17p13) genes located on the 17th chromosome and the BRCA2 gene located on the 13th chromosome. It is known that the amount of bone mass due to estrogen hormone is closely related to the formation of breast cancer. Collagen is the protein that forms bones, cartilage fibers and joints, which are the building blocks of our motor (movement) system. The main protein that forms the main structure of the bone is Type I collagen and about 30 types of collagen have been defined. It acts as a support for bone and cartilage tissue. Regular exercise, on the other hand, is a type of regular, systematic and programmed physical activity done with the aim of improving the physical and mental state of the person. There are many studies that found that exercise increases the tendency of platelet aggregation (aggregation, aggregation, aggregation). In addition, there are scientific studies that show that regular exercise and regularly used collagen stop the progression of breast cancer. The aim of this scientific review is to describe the relationship between platelet, collagen, breast cancer and regular exercise. Keywords: Quiet eye, Platelet, Collagen, Breast Cancer, Regular exercise

In silico Characterization of bHLH Transcription Factor Genes in the Genome of Rainbow Trout (Oncorhynchus mykiss)

The significance of seafood in nutrition has started to be better understood after the change in the understanding of nutrition in the world. One of the most common species cultivated in the world is rainbow trout (Oncorhynchus mykiss) from the origin of North America. Transcription factors are a group of proteins containing different functional components for the accomplishment of various activities. The basic helix (bHLH) domain is a highly preserved amino acid motif that characterizes a family of transcription factors. The bHLH gene family in the rainbow trout (Oncorhynchus mykiss) genome has been identified in the current study for the first-time using bioinformatics tools. According to the results, 441 bHLH genes (OmybHLH) were identified in the rainbow trout genome and the physicochemical properties of those proteins were determined. The highest number of the genes was in 7th chromosome of rainbow trout with 29 OmybHLH genes. 38 of OmybHLH genes had no intronic regions. OmybHLH proteins were divided into 4 main groups in the phylogenetic tree consistent with their motif content. The common biological function of OmybHLH proteins was the regulation of biological processes. The mode of action of OmybHLH proteins was binding activity. The OmybHLH gene family in the rainbow trout and the bHLH gene family in the Atlantic salmon (SsabHLH) had 95 orthologous gene relationships and average separation times of those orthologous genes were found to be 298 million years ago (MYA). Almost all the OmybHLH protein family members have dominated by the α-helix motif which is a stable conformation. Identification of the bHLH proteins and evaluation of their properties in rainbow trout can open new perspectives for aquaculture applications and fish culture to get better yield using genetic data.

Anesthetic Concerns in Patient with Wolf-Hirschhorn Syndrome: A Case Report

Wolf-Hirschhorn Syndrome (WHS) is a well-known, rare genetic disease, which isusually accompanied by prenatal and postnatal growth tension in psycho-motor retardation, which is associated with severe mental retardation, typical facial anomalies, midline defects, skeletal anomalies, hypotonia and contractions. It occurs as a result of deletion (4p-) in the distal part of the short arm of the 4th chromosome. It was aimed to discuss anesthesia management under general anesthesia accompanied by the literature in a case diagnosed with WHS who undergoing undescended testis and colostomy operations with developmental retardation.

Genetic analysis of medfly populations in an area of sterile insect technique applications

The sterile insect technique (SIT) is widely used in integrated pest management programs for the control of the Mediterranean fruit fly (medfly), Ceratitis capitata. The genetic interactions between the released individuals from the genetic sexing strains (GSS), used for SIT applications worldwide, and wild individuals have not been studied. Under the hypothesis that a number of Vienna GSS individuals released to the field might not be completely sterile and may produce viable offspring, we have analyzed medfly Spanish field populations to evaluate the presence of Vienna strain genetic markers. To this goal, we have used contrasted nuclear and mitochondrial genetic markers, and two novel sets of nuclear polymorphisms with the potential to be markers to discriminate between Vienna and wild individuals. Nuclear Vienna markers located on the 5th chromosome of Vienna males have been found in 2.2% (19 from 875) of the Spanish wild medfly females captured at the area where SIT is applied. In addition, a female-inherited mitochondrial Vienna marker has been found in two from the 19 females showing nuclear Vienna markers. The detection of several of these markers in single individuals represents evidence of the introgression of Vienna strain into natural populations. However, alternative explanations as their presence at low frequency in wild populations in the studied areas cannot be fully discarded. The undesired release of non-fully sterile irradiated GSS individuals into the field and their interactions with wild flies, and the potential environmental implications should be taken into account in the application of the SIT.