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Παρασκευή, 25 Νοεμβρίου 2016

FACTORS AFFECTING PREWEANING SURVIVABILITY OF KIDS IN AN ORGANIZED GOAT FARM

2016-11-25T21-55-21Z
Source: International Journal of Livestock Research
Muthukumar Subramaniyan, Thamil Vanan Thanga, Meenakshisundaram Subramanian, Hemalatha Senthilnayagam.
A study was carried out to find out the factors influencing kid survivability in an organized goat farm with more than 500 breedable Tellicherry does at Kancheepuram district, Tamil Nadu. Detailed study was carried out in all the 52 kids died out of 551 live kids born during the study period of nine months. The influence of dam weight at kidding, birth weight, dams milk yield, litter size, kid sex, age of susceptibility and parity on kid survivability were studied. The chi square analysis of the data revealed that significantly higher survival rate were recorded in kids born to dams of 25-40 kg body weight with 300-500 ml of milk yield per day with more than 1.5 kg birth weight, kids born as singles and after third parity survived better (P

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Occupational Exposure to Oxyacetylene Flame Could Predispose to Macrocytic Anaemia in Welders in Nnewi, South East Nigeria

2016-11-25T17-31-12Z
Source: Journal of Environmental and Occupational Science
Nancy Ibeh, John Aneke, Chide Okocha, Emmanuel Obeagu.
Background: Oxyacetylene flame is known to contain a number deleterious components which could be of potentially occupational health importance. Objective: To evaluate the effects of occupational exposure to oxyacetylene flame on haematological indices in a population of welders in Nnewi, Nigeria. Subjects and Methods: A total of 100 subjects were randomly selected, comprising of 50 apparently healthy welders and controls, respectively. Subjects were further stratified into those that consumed alcohol and/or tobacco products and those who did not. Three milliliter (3ml) of venous blood was collected from each participant and dispensed into potassium- ethylene diamine tetra acetic acid (K-EDTA) containers for full blood count determination. This was done using the Sysmex® automated haematology analyser, Model Number: PCE 210. Results were expressed as means ± SD while the students t-test and Analysis of Variance (ANOVA) were used for comparison of means; P was significant at


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Evaluation of response to therapy in thyroid carcinoma patients after radioactive iodine therapy

2016-11-25T16-24-28Z
Source: Bagcilar Medical Bulletin
Lebriz Uslu Besli, Ilhami Uslu.
Radioactive iodine therapy is an important treatment modality for differentiated thyroid carcinoma patients. Radioactive iodine, similar to elementary iodine, is concentrated in the thyroid follicular cells after oral application, and it can damage the remnant or malignant thyroid cells. Unlike many antineoplastic drugs, radioactive iodine can easily be applied without causing serious side effects. Radioactive iodine was first used for the treatment of a differentiated thyroid carcinoma patient in 1949. In Turkey, it has been used in many nuclear medicine centers for treatment of both differentiated thyroid carcinoma and hyperthyroid patients since 1954. For evaluation of response to therapy with radioactive iodine, different clinical, biochemical, scintigraphic, and radiological imaging modalities are available. Today, many international guidelines aid the clinicians in the assessment of therapy response after radioiodine application. This review aims to discuss the methods recommended in current guidelines for therapy response assessment in differentiated thyroid carcinoma patients after radioactive iodine therapy.


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First transapical aortic valve replacement at bagcilar training and research hospital

2016-11-25T16-24-28Z
Source: Bagcilar Medical Bulletin
Nihan Kayalar, Kamil Boyacioglu, Serkan Ketenciler, Ibrahim Yildizhan, Vedat Erentug.
Transcatheter-based aortic valve procedures have undergone a tremendous evolution and have led to great changes in the treatment of aortic valvular disease. In patients with severe peripheral arterial disease, transapical aortic valve implantation is an important alternative to surgical aortic valve replacement. Hereby we present our first case of transapical aortic valve implantation in an 80 year-old patient. An 80-year old female patient applied with dyspnea on minimal exertion (NYHA Class III). Transthoracic echocardiography showed severe aortic stenosis (gradients of 76/45 mmHg, aortic valve area of 0.72 cm2). Patient had a history of coronary artery bypass grafting and chronic obstructive pulmonary disease. Calculated Euroscore was 16.4% and due to the high surgical risk and presence of diffuse vascular disease, transapical aortic valve implantation was decided to be the optimal choice for the patient. The procedure was performed in the catheter laboratory under general anesthesia via a 5-6 cm anterolateral thoracotomy and via transapical approach. Fluoroscopy was used to guide the catheter across the native valve and direct deployment of the stent at the level of the annulus. A 26 mm Edwards Novoflex (Edwards Lifesciences, Irvine, CA) aortic valve was used. Postoperative echocardiography showed no transvalvular gradient and aortic regurgitation. Aorta flow was 1.1 m/s. Transcatheter-based aortic valve procedures avoid the risks associated with open heart surgery and therefore are generally indicated in patients with high surgical risk. Although TAVI is the first alternative to SAVR in high risk patients, TA-TAVI is a safe and effective option in those unsuitable for TAVI.


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Late surgical treatment of iatrogenic femoral vein ligation during open inguinal hernia repair

2016-11-25T16-24-28Z
Source: Bagcilar Medical Bulletin
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Vascular complications during inguinal hernia repair are rarely seen; however, iliac vein ligation may be performed by the inexperienced surgeon. Here, we present a case of iatrogenic external iliac vein ligation diagnosed and surgically treated about one day after surgery. A 58-year-old male patient with bilateral inguinal hernia underwent open bilateral inguinal hernia repair. On the first postoperative day, severe edema, increased warmth and pain of the right leg developed. Duplex ultrasonography (USG) examination of the right lower extremity revealed acute thrombosis of deep veins. The patient was taken to vascular surgery about 24 hours after the inguinal hernia repair operation. It was detected that the right external iliac vein had been ligated iatrogenically during the initial operation. It was repaired with a duplicated saphenous vein patch. The diameter of the right leg decreased dramatically early after operation. The patient was discharged on the 3rd day postoperatively. On follow-up, the patients complaints regressed dramatically; we did not observe any complications and at six months, computerized tomography venography showed absence of stenosis of iliac vein. Major vascular complications after inguinal hernia repair operations must be kept in mind because of close proximity of the surgical area to main vascular structures. The surgical treatment of deep vein thrombosis after ligation of the iliac vein provides an efficient and quick repair if proper surgical techniques are used.


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Cutaneous metastasis of pancreatic carcinoma seen in the left gluteal region and axilla

2016-11-25T16-24-28Z
Source: Bagcilar Medical Bulletin
Ozan Beytemur, Cem Albay, Oktay Adanir, Asuman Chiomet Amet, Mehmet Akif Gulec.
Pancreatic cancer is usually high-grade and metastatic when diagnosed. Skin metastasis is very rare and is usually found in the periumbilical area. Non-umbilical metastasis is extremely rare. Only 19 cases have been reported in the literature. Only one case in the buttock has been described: thus our case is the second one known. In this note, we present a cutaneous metastasis of a pancreatic cancer case that was admitted to the clinic with a mass each on the left buttock and in the left axilla, surgically treated for palliation. We include a review of the literature.


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Root compression due to swollen oxidized regenerated cellulose after cervical disc surgery

2016-11-25T16-24-28Z
Source: Bagcilar Medical Bulletin
Azmi Tufan, Feyza Karagoz Guzey, Abdurrahim Tas, Cihan Isler, Murat Yucel, Ozgur Aktas, Mustafa Vatansever, Yucel Hitay.
Oxidized regenerated cellulose is a hemostatic material that is frequently used in neurosurgery. While it is often left in place to avoid postoperative hematoma, in rare cases it may cause neural tissue compression. A case with severe radicular pain due to swollen oxidized regenerated cellulose after anterior cervical disc surgery was reported. A 37-year-old female was operated for a C5-6 disc herniation. After anterior microdiscectomy, severe radicular pain developed due to a retained piece of swollen oxidized regenerated cellulose. Complaints resolved completely after removal of the material causing the compression. Neurological deficits may develop with even a small amount of oxidized regenerated cellulose left behind on the surface of the dura after spinal surgery. We need to keep in mind that this is foreign material that should be used in small quantities. If possible, it must be removed after hemostasis has been achieved.


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Factors affecting the outcome in traumatic subarachnoid hemorrhage

2016-11-25T16-24-28Z
Source: Bagcilar Medical Bulletin
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Objective: To define risk factors affecting the outcome in traumatic subarachnoid hemorrhage. Material and Methods: Forty-four patients with traumatic subarachnoid hemorrhage were evaluated retrospectively. They were divided into three groups according to their age: elderly (?65 years), adult (16-64 years), and children (


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Comparing the rate of radiological and clinical adjacent segment degeneration after simple anterior cervical discectomy versus discectomy plus fusion

2016-11-25T16-24-28Z
Source: Bagcilar Medical Bulletin
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Objective: To evaluate and compare the radiological changes on adjacent mobile segments and clinical findings in patients having undergone single-segment simple anterior cervical discectomy versus discectomy plus intervertebral fusion. Material and Methods: Twenty-five patients were treated with discectomy plus fusion and 20 patients with simple discectomy. Clinical pictures of the patients were evaluated with ODOM criteria before and 1 year after operation, and their improvement rates were calculated. The disc heights of superior and inferior adjacent segments, superior and inferior foramen heights, superior and inferior end plate heights of superior and inferior adjacent segments, new osteophyte development, segmental angulation and loss of cervical lordosis were evaluated on cervical radiographies before and 1 year after operation. Results: Although there were new degenerative findings in adjacent mobile segments in all patients when preoperative and postoperative measurements were compared, these radiological findings did not translate into clinical findings. In the fusion group, radiological degeneration findings were seen more frequently statistically; however, clinical results were not different between the two groups. On the other hand, loss of lordosis was significantly more frequent in the simple discectomy group. Conclusion: Although adding fusion to single-segment anterior cervical discectomy caused more frequent radiological degenerative changes in adjacent segments after 1 year compared to simple discectomy, clinical results were similar. It was thought that longer follow-up was necessary to observe clinical adjacent segment disease that was expected to become more frequent because of excessive mobility due to fusion.


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Surgical management of cardiac myxomas in elderly patients

2016-11-25T16-24-28Z
Source: Bagcilar Medical Bulletin
Kamil Boyacioglu, Arzu Antal Donmez, Mehmet Aksut, Ilknur Akdemir, Serkan Ketenciler, Taylan Adademir, Nihan Kayalar, Vedat Erentug.
Objective: Cardiac myxoma usually presents during early adulthood. There is generally a tendency for prompt surgical resection. However, advanced age of patients presenting with this disease may increase the operative risk due to other cardiac and non-cardiac problems. Therefore, we evaluated elderly patients who underwent surgery for myxoma to review the management of treatment. Methods: Between September 1985 and March 2012, a total of 17 consecutive patients over 65 years of age (5 male, 12 female; mean age: 69.3±3.5 years) who had undergone surgical resection for cardiac myxoma were analyzed retrospectively. Echocardiography had been performed in all patients to diagnose the myxoma and evaluate other cardiac pathologies. Coronary angiography had been performed in all patients except in two cases who underwent emergency surgery. Results: Thirteen patients (76.4%) survived the operation. Two patients who underwent emergency operation died early and four patients died during the follow-up time. Concomitant procedures included coronary artery bypass grafting in two, radiofrequency ablation in one, mitral valve reconstruction in one and femoral embolectomy in one patient. Conclusions: In an era of aging population, myxoma tends to be diagnosed more frequently in elderly and high-risk patients. Complete preoperative assessment of these patients is a more appropriate approach in stable patients than the traditional emergency surgery applied to all cases.


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Exploring the potential of genome editing CRISPR-Cas9 technology

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Publication date: 30 January 2017
Source:Gene, Volume 599
Author(s): Vijai Singh, Darren Braddick, Pawan Kumar Dhar
CRISPR-Cas9 is an RNA-mediated adaptive immune system that protects bacteria and archaea from viruses or plasmids. Herein we discuss the recent development of CRISPR-Cas9 into a key technology for genome editing, targeting, and regulation in a wide range of organisms and cell types. It requires a custom designed single guide-RNA (sgRNA), a Cas9 endonuclease, and PAM sequences in the target region. The sgRNA-Cas9 complex binds to its target and creates a double-strand break (DSB) that can be repaired by non-homologous end joining (NHEJ) or by the homology-directed repair (HDR) pathway, modifying or permanently replacing the genomic target sequence. Additionally, we highlight recent advances in the repurposing of CRISPR-Cas9 for repression, activation, and loci imaging. In this review, we underline the current progress and the future potential of the CRISPR-Cas9 system towards biomedical, therapeutic, industrial, and biotechnological applications.



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Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)

Publication date: 30 January 2017
Source:Gene, Volume 599
Author(s): Anusha Uttarilli, Divya Pasumarthi, Prajnya Ranganath, Ashwin B Dalal
MPS VI is an autosomal recessive disorder which occurs due to the deficiency of N-acetyl galactosamine-4-sulfatase (Arylsulfatase B - ARSB) involved in catabolism of dermatan sulfate resulting from disease-causing variations in the ARSB gene. Human Gene Mutation Database (HGMD) search revealed 200 different mutations in ARSB worldwide. In the present study we carried out molecular and functional analyses to characterize the mutations reported by us in Indian population. Mutation analysis of 19 MPS VI patients revealed presence of a total of 15 different mutations of which twelve were novel [p.Asp53Asn (c.157G>A; p.D53N), p.Leu98Arg (c.293T>G; p.L98R), p.Tyr103Serfs*9 (c.306_312delCTACCAG+146del; p.Y103Sfs*9), p.Phe166Leufs*18 (c.496delT; p.F166Lfs*18), p.Ile220Serfs*5 (c.659_660delTA; p.I220Sfs*5), p.Ile350Phe (c.1048A>T; p.I350F), p.Trp353* (c.1059G>A; p.W353*), p.His393Arg (c.1178A>G; p.H393R), p.Ser403Tyrfs* (c.1208delC; p.S403Yfs*), p.Pro445Leu (c.1334C>T; p.P445L), p.Trp450Leu (c.1349G>T; p.W450L) and p.Trp450Cys (c.1350G>C; p.W450C)] and three were known mutations [p.Asp54Asn (c.160G>A; p.D54N), p.Ala237Asp (c.710C>A; p.A237D) and p.Ser320Arg (c.960C>G; p.S320R)]. Functional characterization using site-directed mutagenesis followed by cell transfection assays, immunoblot, reverse transcriptase PCR and immunofluorescence studies for the putative pathogenic variants detected in our MPS VI patient cohort helped us to confirm the pathogenic potential of the variants in ARSB.

Graphical abstract

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Functional polymorphisms in PD-L1 gene are associated with the prognosis of patients with early stage non-small cell lung cancer

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Publication date: 30 January 2017
Source:Gene, Volume 599
Author(s): Shin Yup Lee, Deuk Kju Jung, Jin Eun Choi, Cheng Cheng Jin, Mi Jeong Hong, Sook Kyung Do, Hyo-Gyoung Kang, Won Kee Lee, Yangki Seok, Eung Bae Lee, Ji Yun Jeong, Kyung Min Shin, Seung Soo Yoo, Jaehee Lee, Seung Ick Cha, Chang Ho Kim, Jae Yong Park
IntroductionThis study was conducted to investigate whether polymorphisms of genes involved in immune checkpoints can predict the prognosis of patients with early stage non-small cell lung cancer (NSCLC) after surgical resection.Materials and methodsTwelve single nucleotide polymorphisms (SNPs) of PD-1, PD-L1, and CTLA-4 genes were selected and genotyped. A total of 354 patients with early stage NSCLC who underwent curative surgical resection were enrolled. The association of the SNPs with overall survival (OS) was analyzed.ResultsAmong the 12 SNPs investigated, PD-L1 rs4143815C>G, rs822336G>C, and rs822337T>A were significantly associated with worse survival outcomes in multivariate analyses. When the three SNPs were combined, OS decreased in a dose-dependent manner as the number of bad genotypes increased (Ptrend=0.0003). In the luciferase assay, rs4143815 G allele exhibited a decreased transcription activity compared with C allele (P=0.001), and the rs822336C-rs822337A haplotype had a decreased promoter activity compared with the rs822336G-rs822337T haplotype (P=0.004). Patients with higher expression of PD-L1 mRNA had a better survival compared with lower expression (P=0.03).ConclusionsPD-L1 polymorphisms may be useful for the prediction of prognosis in patients with surgically resected NSCLC. Further studies are needed to confirm our findings and to understand the role of PD-L1 in the antitumor immunity and prognosis in NSCLC.



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Old age and the associated impairment of bones' adaptation to loading are associated with transcriptomic changes in cellular metabolism, cell-matrix interactions and the cell cycle

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Publication date: 30 January 2017
Source:Gene, Volume 599
Author(s): Gabriel L. Galea, Lee B. Meakin, Marie A. Harris, Peter J. Delisser, Lance E. Lanyon, Stephen E. Harris, Joanna S. Price
In old animals, bone's ability to adapt its mass and architecture to functional load-bearing requirements is diminished, resulting in bone loss characteristic of osteoporosis. Here we investigate transcriptomic changes associated with this impaired adaptive response. Young adult (19-week-old) and aged (19-month-old) female mice were subjected to unilateral axial tibial loading and their cortical shells harvested for microarray analysis between 1h and 24h following loading (36 mice per age group, 6 mice per loading group at 6 time points). In non-loaded aged bones, down-regulated genes are enriched for MAPK, Wnt and cell cycle components, including E2F1. E2F1 is the transcription factor most closely associated with genes down-regulated by ageing and is down-regulated at the protein level in osteocytes. Genes up-regulated in aged bone are enriched for carbohydrate metabolism, TNFα and TGFβ superfamily components. Loading stimulates rapid and sustained transcriptional responses in both age groups. However, genes related to proliferation are predominantly up-regulated in the young and down-regulated in the aged following loading, whereas those implicated in bioenergetics are down-regulated in the young and up-regulated in the aged. Networks of inter-related transcription factors regulated by E2F1 are loading-responsive in both age groups. Loading regulates genes involved in similar signalling cascades in both age groups, but these responses are more sustained in the young than aged. From this we conclude that cells in aged bone retain the capability to sense and transduce loading-related stimuli, but their ability to translate acute responses into functionally relevant outcomes is diminished.



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A genome-wide analysis of simple sequence repeats in Apis cerana and its development as polymorphism markers

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Publication date: 30 January 2017
Source:Gene, Volume 599
Author(s): Lu Liu, Mingzhu Qin, Lin Yang, Zhenzhen Song, Li Luo, Hongyin Bao, Zhenggang Ma, Zeyang Zhou, Jinshan Xu
The Asian honeybee (Apis cerana) is an important indigenous species that play an indispensable role in the ecological balance and biological diversity. Few studies have been conducted to characterize the simple sequence repeats (SSRs) derived from A. cerana, so, in this study, a genome-wide screening for SSRs were firstly performed in the genome of A. cerana by comparison with that in west honeybee (Apis mellifera). There were 20,9991 SSRs distributed throughout the genome of A. cerana (Korea strain) and di-nucleotides were the most frequent SSR type. Both total number and density of SSRs in A. cerana genome were smaller than that in A. mellifera genome. Through comparing length discrepancy of SSRs loci among several isolates based on sequence alignment, 218 potential polymorphic SSRs primers derived from A. cerana were presented. Five among these SSR markers were evaluated for amplification in twenty-eight colonies of Apis cerana cerana (Chinese honeybee), which showed highly polymorphic, with the value of Polymorphism information content (PIC) ranging from 0.47 to 0.61. All these results will contribute to further develop more effective SSRs markers derived from A. cerana, which can be used to study genetic structure and population polymorphism of Asian honeybee.



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Editorial Board

Publication date: 30 January 2017
Source:Gene, Volume 599





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Aurora B kinase is required for cell cycle progression in silkworm

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Publication date: 30 January 2017
Source:Gene, Volume 599
Author(s): Xiaoxu Gang, Wenliang Qian, Tianlei Zhang, Xinxin Yang, Qingyou Xia, Daojun Cheng
Aurora B kinase, a member of serine/threonine kinase family, is the catalytic subunit of the chromosomal passenger complex and is essential for chromosome alignment, chromosome segregation, and cytokinesis during mitosis. Here, we cloned the full-length cDNA sequence of silkworm Aurora B (BmAurB) gene and predicted that BmAurB protein contains a conserved S_TKc domain. Phylogenetic analysis between BmAurB and other Aurora kinases indicates that Aurora kinases may have evolved after separation between mammalian and insect, and prior to radiation of either mammalian or insects. RT-PCR examination revealed that the expression of the BmAurB gene was high in mitotic cycling gonads, moderate in mitotic cycling brain, and undetectable in endocycling silk gland during silkworm larval development. RNAi or inhibitor-mediated inhibition of the BmAurB gene in silkworm ovary-derived BmN4-SID1 cells disrupted cell cycle progression during mitosis and induced an accumulation of polyploid cells, cell cycle arrest at G2/M phase, chromosome misalignment, chromosome bridge, and bi-nucleation. Taken together, our results suggest that the BmAurB gene is required for cell cycle progression in silkworm.



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Insect and plant-derived miRNAs in greenbug (Schizaphis graminum) and yellow sugarcane aphid (Sipha flava) revealed by deep sequencing

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Publication date: 30 January 2017
Source:Gene, Volume 599
Author(s): Haichuan Wang, Chi Zhang, Yongchao Dou, Bin Yu, Yunfeng Liu, Tiffany M. Heng-Moss, Guoqing Lu, Michael Wachholtz, Jeffery D. Bradshaw, Paul Twigg, Erin Scully, Nathan Palmer, Gautam Sarath
Schizaphis graminum (green bug; GB) and Sipha flava (yellow sugarcane aphid; YSA) are two cereal aphid species with broad host ranges capable of establishing on sorghum (Sorghum bicolor) and several switchgrass (Panicum virgatum) cultivars. Switchgrass and sorghum are staple renewable bioenergy crops that are vulnerable to damage by aphids, therefore, identifying novel targets to control aphids has the potential to drastically improve yields and reduce losses in these bioenergy crops. Despite the wealth of genomic and transcriptomic information available from a closely related model aphid species, the pea aphid (Acyrthosiphon pisum), similar genomic information, including the identification of small RNAs, is still limited for GB and YSA. Deep sequencing of miRNAs expressed in GB and YSA was conducted and 72 and 56 miRNA candidates (including 14 and eight novel) were identified, respectively. Of the identified miRNAs, 45 were commonly expressed in both aphid species. Further, plant derived miRNAs were also detected in both aphid samples, including 13 (eight known and five novel) sorghum miRNAs and three (novel) barley miRNAs. In addition, potential aphid gene targets for the host plant-derived miRNAs were predicted. The establishment of miRNA repertoires in these two aphid species and the detection of plant-derived miRNA in aphids will ultimately lead to a better understanding of the role of miRNAs in regulating gene expression networks in these two aphids and the potential roles of plant miRNAs in mediating plant-insect interactions.



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A newly identified Rab-GDI paralogue has a role in neural development in amphibia

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Publication date: 30 January 2017
Source:Gene, Volume 599
Author(s): Liliya Nazlamova, Anna Noble, Frank R. Schubert, John McGeehan, Fiona Myers, Matt Guille, Garry Scarlett
Vesicle shuttling is critical for many cellular and organismal processes, including embryonic development. GDI proteins contribute to vesicle shuttling by regulating the activity of Rab GTPases, controlling their cycling between the inactive cytosol and active membrane bound states. While identifying genes controlled by A-form DNA sequences we discovered a previously unknown member of the GDI family, GDI3. The GDI3 gene is found only in amphibians and fish and is developmentally expressed in Xenopus from neurula stages onwards in the neural plate, and subsequently in both dorsal and anterior structures. Depletion or over-expression of the GDI3 protein in Xenopus embryos gives rise to very similar phenotypes, suggesting that strict control of GDI3 protein levels is required for correct embryonic development. Our analysis suggests the evolutionary origins of GDI3 and that it is functionally distinct from GDI1. Predicted structural analysis of GDI3 suggests that the key difference between GDI1 and GDI3 lies in their lipid binding pockets.



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Vitamin D receptor gene FokI variant in diabetic foot ulcer and its relation with oxidative stress

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Publication date: 30 January 2017
Source:Gene, Volume 599
Author(s): Negin Soroush, Mania Radfar, Armita Kakavand Hamidi, Mohammad Abdollahi, Mostafa Qorbani, Farideh Razi, Ensieh Nasli Esfahani, Mahsa M Amoli
PurposeThe patient's suffering and financial costs affiliated with Diabetic Foot Ulcer (DFU), as one of the most important complications of diabetes, are highly undesirable and this highlights the importance of preventive medicine about this disorder. Furthermore hyperglycemia causes generation of free radicals which leads to oxidative stress (OS). Hence, this study aims to examine the association between vitamin D receptor (VDR) gene FokI polymorphism and DFU in Iranian population and also its correlation with OS biomarkers.Materials and methodsIn a case-control study, a total of 212 patients with type 2 diabetes with and without diabetic foot ulcer were included. Genotyping was conducted by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. Samples were analyzed for thiobarbituric reactive substances (TBARS) and ferric reducing ability of plasma (FRAP) as markers of OS.ResultsThe results indicated a significant difference in genotype frequencies of VDR gene FokI polymorphism in patients with diabetic foot ulcer in comparison to those without diabetic foot ulcer (TT+TC vs. CC p=0.04; OR=1.76; 95% CI=1.02–3.05). Moreover, the patients carrying the T allele had a significantly higher level of TBARS (p=0.01).ConclusionsWe found a significant association between FokI functional variant of VDR gene and diabetic foot ulcer in an Iranian population. Increased levels of TBARS in patients carrying the T allele of FokI polymorphism indicate an association between this variant and OS in patients with diabetes.



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Anti-obesity effect of radix Angelica sinensis and candidate causative genes in transcriptome analyses of adipose tissues in high-fat diet-induced mice

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Publication date: 30 January 2017
Source:Gene, Volume 599
Author(s): Tao Zhong, Hao Zhang, Xiaoyue Duan, Jiangtao Hu, Linjie Wang, Li Li, Hongping Zhang, Lili Niu
We have previously reported that radix Angelica sinensis (RAS) suppressed body weight and altered the expression of the fat mass and obesity associated (FTO) gene in mice with high fat diet (HFD)-induced obesity. In the present study we performed RNA sequencing-mediated transcriptome analysis to elucidate the molecular mechanisms underlying the anti-obesogenic effects of RAS in mice. The results revealed that 36 differentially-expressed genes (DEGs) were identified in adipose tissues from the RAS supplementation group (DH) and control group (HC). These 36 DEGs were clustered into 297 functional gene ontology (GO) categories, among which several GO annotations and signaling pathways were associated with lipid homeostasis. Six out of the 36 DEGs were identified to be involved in lipid metabolism, with the APOA2 gene a potential anti-obesogenic influence. The expression pattern revealed by RNA-Seq was identical to the results of quantitative real-time PCR (qPCR). Therefore, RAS supplementation in HFD-induced obese mice was associated with an anti-obesogenic global transcriptomic response. This study provides insight into potential applications of RAS in obesity therapy.



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Editorial Board

Publication date: 20 January 2017
Source:Gene, Volume 598





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Functional characterization of ASTC (allatostatin C) and ASTCC (allatostatin double C) in Clostera anastomosis (Lepidoptera: Notodontidae)

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Publication date: 20 January 2017
Source:Gene, Volume 598
Author(s): Ying-Qian Dong, Zhi-Ying Wang, Tian-Zhong Jing
ASTC (allatostatin C) and ASTCC (allatostatin double C) are two neuropeptide genes that encode allatostatin C-like peptides. Whether these peptides inhibit or have other effects on juvenile hormone (JH) synthesis in the corpora allata remains in question. The juvenile hormone acid O-methyltransferase (JHAMT), a key gene in the JH biosynthesis pathway, was selected to study the effects of ASTC and ASTCC on juvenile hormones. In this study, we first characterized the expression patterns and correlations between ASTC and ASTCC in Clostera anastomosis under natural conditions, and then the functions of these two genes were investigated by RNAi. The results showed the expression of JHAMT was strongly positive correlated with ASTC and ASTCC in the heads of larvae after ASTC and ASTCC were knocked down simultaneously, while negative correlations were found in the heads of female adults. These results suggest that both ASTC and ASTCC may stimulate JH biosynthesis in larvae while inhibit in female adults of C. anastomosis. And after either ASTC or ASTCC was knocked down alone, the correlation between the two genes were positive, indicating ASTC and ASTCC may function dependently in female heads. In addition, simultaneous suppression of ASTC and ASTCC increased the mortalities of larvae and pupae.



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Phosphorylation of poly(rC) binding protein 1 (PCBP1) contributes to stabilization of mu opioid receptor (MOR) mRNA via interaction with AU-rich element RNA-binding protein 1 (AUF1) and poly A binding protein (PABP)

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Publication date: 20 January 2017
Source:Gene, Volume 598
Author(s): Cheol Kyu Hwang, Yadav Wagley, Ping-Yee Law, Li-Na Wei, Horace H. Loh
Gene regulation at the post-transcriptional level is frequently based on cis- and trans-acting factors on target mRNAs. We found a C-rich element (CRE) in mu-opioid receptor (MOR) 3′-untranslated region (UTR) to which poly (rC) binding protein 1 (PCBP1) binds, resulting in MOR mRNA stabilization. RNA immunoprecipitation and RNA EMSA revealed the formation of PCBP1-RNA complexes at the element. Knockdown of PCBP1 decreased MOR mRNA half-life and protein expression. Stimulation by forskolin increased cytoplasmic localization of PCBP1 and PCBP1/MOR 3′-UTR interactions via increased serine phosphorylation that was blocked by protein kinase A (PKA) or (phosphatidyl inositol-3) PI3-kinase inhibitors. The forskolin treatment also enhanced serine- and tyrosine-phosphorylation of AU-rich element binding protein (AUF1), concurrent with its increased binding to the CRE, and led to an increased interaction of poly A binding protein (PABP) with the CRE and poly(A) sites. AUF1 phosphorylation also led to an increased interaction with PCBP1. These findings suggest that a single co-regulator, PCBP1, plays a crucial role in stabilizing MOR mRNA, and is induced by PKA signaling by conforming to AUF1 and PABP.



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Conditional tenomodulin overexpression favors tenogenic lineage differentiation of transgenic mouse derived cells

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Publication date: 20 January 2017
Source:Gene, Volume 598
Author(s): Yuan Shi, Yao Xiong, Yongkang Jiang, Zhiyong Zhang, Guangdong Zhou, Wenjie Zhang, Yilin Cao, Jing He, Wei Liu
Tenomodulin (TNMD) is a type II transmembrane protein that is widely expressed in a variety of avascular connective tissues and fat tissue. Its function remains largely unknown except for a marker for mature tenocytes. This study reports the generation of tetracycline (Tet)-on driven conditional TNMD overexpressing mice and thus to provide a tool for systemic investigation of its role in regulating functions of various tissues. The current study focuses on in vitro comparison of tenogenic differentiation potentials induced by doxycycline (Dox) treatment among bone marrow derived stem cells (BMSCs), adipose derived stem cells (ASCs), dermal fibroblasts (DFs) and tenocytes (TCs) of the same transgenic mice. The results showed that BMSCs exhibited the best tenogenic potential than other three cell types (p<0.05 for majority of markers), whereas ASCs and DFs revealed similar potentials (p>0.05 for majority of markers). TCs were found the least capable of being induced for tenogenic gene expression. In addition, TNMD overexpression also significantly inhibited the differentiation towards osteogenic and chondrogenic lineages in both BMSCs and ASCs (p<0.05). However, the inhibition of adipogenic differentiation was not observed in ASCs (p>0.05), suggesting different gene regulation mechanisms may involve in different tissue types and thus leading to different functions, which is likely to be revealed with a transgenic mouse model.



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Altered expression of miRNAs in the uterus from a letrozole-induced rat PCOS model

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Publication date: 20 January 2017
Source:Gene, Volume 598
Author(s): Chunjin Li, Lu Chen, Yun Zhao, Shuxiong Chen, Lulu Fu, Yanwen Jiang, Shan Gao, Zhuo Liu, Fengge Wang, Xiaoling Zhu, Jiahui Rao, Jing Zhang, Xu Zhou
Polycystic ovary syndrome (PCOS) causes female subfertility with ovarian disorders and may be associated with increased rate of early-pregnancy failure. Rat PCOS models were established using letrozole to understand the uterine pathogenesis of PCOS. The differential expression of microRNAs (miRNAs) was observed in rat uterus with PCOS. After estrous cycles were disrupted, significantly abnormal ovarian morphology and hormone level were observed in rats with PCOS. A total of 148 miRNAs differentially expressed were identified in the uterus from the letrozole-induced rat model compared with the control. These miRNAs included 111 upregulated miRNAs and 37 downregulated miRNAs. The differential expression of miR-484, miR-375-3p, miR-324-5p, and miR-223-3p was further confirmed by quantitative reverse transcription polymerase chain reaction. Bioinformatic analysis showed that these four miRNAs were predicted to regulate a large number of genes with different functions. Pathway analysis supported that target genes of miRNAs were involved in insulin secretion and signaling pathways, such as wnt, AMPK, PI3K-Akt, and Ras. These data indicated that miRNAs differentially expressed in rat uterus with PCOS may be associated with PCOS pathogenesis in the uterus. Our findings can help clarify the mechanism of uterine defects in PCOS.



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Association of a Vascular Endothelial Growth Factor genetic variant with Serum VEGF level in subjects with Metabolic Syndrome

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Publication date: 20 January 2017
Source:Gene, Volume 598
Author(s): Hamideh Ghazizadeh, Mohammad Fazilati, Alireza Pasdar, Amir Avan, Maryam Tayefi, Faeze Ghasemi, Mehraneh Mehramiz, Seyed Reza Mirhafez, Gordon A Ferns, Mohsen Azimi-Nezhad, Majid Ghayour-Mobarhan
BackgroundThe metabolic syndrome (MetS) is a clustering of metabolic disorders that is associated with an increased risk of developing cardiovascular-disease, diabetes, and related diseases. Against this background, Vascular Endothelial Growth Factor (VEGF) plays an essential role in angiogenesis, vascular permeability, and hematopoiesis and its increased level is reported to be associated with increasing the risk of developing cardiovascular-disease, stroke and diabetes. Therefore the aim of present study was to explore the association of serum VEGF level and its associated genetic-polymorphism, rs10738760 (A>G) at 9p24.2, in 850 subjects with/without MetS.MethodsMetS was defined according to the International-Diabetes-Federation criteria. Genotyping was carried out using Polymerase chain reaction-amplification refractory mutation system. Anthropometric/biochemical parameters, including FBG, Triglyceride, HDL, TC, etc., were determined followed by univariate and multivariate analyses.ResultsMetS patients had significantly higher levels of BMI, waist-circumference, cholesterol, triglyceride, Hs-CRP and SBP/DBP, while the HDL-C levels was lower in patients group, compared to control group (P<0.05). Moreover, our analysis showed that MetS patients with GA or AA genotypes had a significantly (P=0.03) higher serum level of VEGF.Conclusionswe demonstrate an association between a VEGF genetic variant with MetS, suggesting its role as a risk stratification factor for MetS.



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The mitochondrial genome of the lepidopteran host cadaver (Thitarodes sp.) of Ophiocordyceps sinensis and related phylogenetic analysis

Publication date: 20 January 2017
Source:Gene, Volume 598
Author(s): Xincong Kang, Yongquan Hu, Jiang Hu, Liqin Hu, Feng Wang, Dongbo Liu
To understand the phylogeny of the host insect (Thitarodes sp.) of the fungus Ophiocordyceps sinensis, we sequenced, annotated and characterized the complete mitochondrial (mt) genome of the host cadaver of a natural O. sinensis. Further, we compared the Thitarodes sp. mt genome with those of the other 7 sequenced Hepialidae and examined the phylogenetic relationships using a constructed Maximum Likelihood (ML) phylogenetic tree and mt genomic features (genetic distances and intergenic spacers). The mt genome is a circular molecule of 16,280bp in length with a high A+T content (81.20%) and contains 13 protein-coding genes (PCGs), 2 rRNA genes, 22 tRNA genes and an AT-rich region. The gene arrangement is identical to the ancestral arrangement but differs from those of other lepidopteran mt genomes because of the arrangement of tRNA genes. The tRNA region, which is located between the AT-rich region and nad2, is trnI/trnQ/trnM (IQM) in Thitarodes sp., rather than the trnM/trnI/trnQ (MIQ) of the Lepidoptera-specific rearrangement. All PCGs begin with the canonical start codons ATN or NTG, except for cox1, which starts with CGA. Most PCGs terminate with the typical stop codon TAA, although some have an incomplete stop codon (T). The 1473bp AT-rich region is located between the rrnS (12S rRNA) and trnI, which is the longest sequenced in a Thitarodes mt genome to date, containing nine 112bp copies and one partial copy of a 55bp sequence. The results derived from the phylogenetic tree, the genetic distances and the intergenic spacers of the mt genome show that the host insect of O. sinensis belongs to the Thitarodes, while Endoclita signifer and Napialus hunanensis form a relatively distinct lineage from Thitarodes. The sequence and full annotation of this moth mt genome will provide more molecular information about the Exoporia within the Lepidoptera, and the clarification of its phylogeny will improve the management of this insect resource and the conservation and sustainable use of this endangered medicinal species in China.

Graphical abstract

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Ct shift: A novel and accurate real-time PCR quantification model for direct comparison of different nucleic acid sequences and its application for transposon quantifications

Publication date: 20 January 2017
Source:Gene, Volume 598
Author(s): Orsolya Kolacsek, Enikő Pergel, Nóra Varga, Ágota Apáti, Tamás I. Orbán
There are numerous applications of quantitative PCR for both diagnostic and basic research. As in many other techniques the basis of quantification is that comparisons are made between different (unknown and known or reference) specimens of the same entity. When the aim is to compare real quantities of different species in samples, one cannot escape their separate precise absolute quantification. We have established a simple and reliable method for this purpose (Ct shift method) which combines the absolute and the relative approach. It requires a plasmid standard containing both sequences of amplicons to be compared (e.g. the target of interest and the endogenous control). It can serve as a reference sample with equal copies of templates for both targets. Using the ΔΔCt formula we can quantify the exact ratio of the two templates in each unknown sample. The Ct shift method has been successfully applied for transposon gene copy measurements, as well as for comparison of different mRNAs in cDNA samples. This study provides the proof of concept and introduces some potential applications of the method; the absolute nature of results even without the need for real reference samples can contribute to the universality of the method and comparability of different studies.



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Structural characterization of the α-mating factor prepro-peptide for secretion of recombinant proteins in Pichia pastoris

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Publication date: 20 January 2017
Source:Gene, Volume 598
Author(s): Sabreen Chahal, Peter Wei, Pachai Moua, Sung Pil James Park, Janet Kwon, Arth Patel, Anthony T. Vu, Jason A. Catolico, Yu Fang Tina Tsai, Nadia Shaheen, Tiffany T. Chu, Vivian Tam, Zill-E-Huma Khan, Hyun Henry Joo, Liang Xue, Joan Lin-Cereghino, Jerry W. Tsai, Geoff P. Lin-Cereghino
The methylotrophic yeast Pichia pastoris has been used extensively for expressing recombinant proteins because it combines the ease of genetic manipulation, the ability to provide complex posttranslational modifications and the capacity for efficient protein secretion. The most successful and commonly used secretion signal leader in Pichia pastoris has been the alpha mating factor (MATα) prepro secretion signal. However, limitations exist as some proteins cannot be secreted efficiently, leading to strategies to enhance secretion efficiency by modifying the secretion signal leader. Based on a Jpred secondary structure prediction and knob-socket modeling of tertiary structure, numerous deletions and duplications of the MATα prepro leader were engineered to evaluate the correlation between predicted secondary structure and the secretion level of the reporters horseradish peroxidase (HRP) and Candida antarctica lipase B. In addition, circular dichroism analyses were completed for the wild type and several mutant pro-peptides to evaluate actual differences in secondary structure. The results lead to a new model of MATα pro-peptide signal leader, which suggests that the N and C-termini of MATα pro-peptide need to be presented in a specific orientation for proper interaction with the cellular secretion machinery and for efficient protein secretion.



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Onychomycosis in diabetic patients in Fako Division of Cameroon: prevalence, causative agents, associated factors and antifungal sensitivity patterns

Onychomycosis is an infection of the nail unit by a fungus. This is a very common infection amongst diabetics. Its occurrence among diabetics in Fako division is unknown. In this study we provide information o...

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Posterior reversible encephalopathy syndrome due to combination vemurafenib and cobimetinib for metastatic melanoma

Abstract

The combination of BRAF and MEK inhibitors has improved the prognosis of patients with BRAFV600-mutated metastatic melanoma (Larkin et al., 2014). The toxicity profiles of these drugs are mostly defined by gastrointestinal events, photosensitivity, hepatitis, and arthralgia (Larkin et al., 2014). We report a case of posterior reversible encephalopathy syndrome (PRES) induced by vemurafenib and cobimetinib.

A 68-year-old man, with neither a medical history nor any treatment, was surgically treated in November 2015 for stage IIB chest melanoma (superficial-spreading melanoma, Breslow 7 mm, with a high mitotic rate and without ulceration).

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Efficient regeneration system from rye leaf base segments

Rye is second only to wheat among grains most widely used in the making of bread and is also a very important gene resource for breeding and improvement of wheat and other cereal crops owing to tolerance to ab...

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P-th moment and almost sure stability of stochastic switched nonlinear systems



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