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Lung genetics

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https://www.readbyqxmd.com/read/29783968/investigating-porcine-parvoviruses-genogroup-2-infection-using-in-situ-polymerase-chain-reaction
#1
Dinko Novosel, Daniel Cadar, Tamás Tuboly, Andreja Jungic, Tomasz Stadejek, Tahar Ait-Ali, Attila Cságola
BACKGROUND: Porcine parvovirus 2 (PPV2) was detected in swine serum without showing any relationship with disease. The emergence of the virus seemed to be a unique event until other genetically highly similar parvoviruses were identified in China and, later in 2012, the presence of the virus was also described in Europe. PPV2 is widely distributed in pig populations where it is suspected to be involved in respiratory conditions, based on its frequent detection in lung samples. In order to investigate the potential pathogenic involvement of PPV2, 60 dead pigs were examined from two farms...
May 21, 2018: BMC Veterinary Research
https://www.readbyqxmd.com/read/29783140/congenital-diaphragmatic-disease-an-unusual-presentation-in-adulthood-case-report
#2
Angela Gurrado, Roberta Maria Isernia, Alessandro De Luca, Valentina Ferraro, Daniela Virgintino, Anna Napoli, Giuseppe Cavallaro, Eugenio Maiorano, Angela Pezzolla, Mario Testini
INTRODUCTION: Congenital diaphragmatic disease is a quite common condition that usually occurs in the neonatal period, and the diagnosis of congenital diaphragmatic disease in adulthood is rare. CASE PRESENTATION: A 64-years-old Caucasian woman was admitted in emergency at our Department, due to a bowel obstruction and dyspnea. A CT-scan showed a diaphragmatic herniation in the left area, with malposition of dilated transverse and descending colon in the chest. An emergency laparatomy was performed, showing a toxic megacolon, in the absence of a true diaphragmatic hernia, and a left diaphragm and left liver hypoplasia...
May 7, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29782549/sphingosine-1-phosphate-receptor-2-facilitates-pulmonary-fibrosis-through-potentiating-il-13-pathway-in-macrophages
#3
Juanjuan Zhao, Yasuo Okamoto, Yuya Asano, Kazuhiro Ishimaru, Sho Aki, Kazuaki Yoshioka, Noriko Takuwa, Takashi Wada, Yutaka Inagaki, Chiaki Takahashi, Takumi Nishiuchi, Yoh Takuwa
Idiopathic pulmonary fibrosis is a devastating disease with poor prognosis. The pathogenic role of the lysophospholipid mediator sphingosine-1-phosphate and its receptor S1PR2 in lung fibrosis is unknown. We show here that genetic deletion of S1pr2 strikingly attenuated lung fibrosis induced by repeated injections of bleomycin in mice. We observed by using S1pr2LacZ/+ mice that S1PR2 was expressed in alveolar macrophages, vascular endothelial cells and alveolar epithelial cells in the lung and that S1PR2-expressing cells accumulated in the fibrotic legions...
2018: PloS One
https://www.readbyqxmd.com/read/29782307/cutaneous-manifestations-of-tuberous-sclerosis
#4
Mirjana Bakić, Marina Ratković, Branka Gledović, Balsa Vujović, Danilo Radunović, Vera Babić, Vladimir Prelević
Dear Editor, Tuberous sclerosis (TS) is an autosomal dominant multisystem disease, which occurs due to genetically determined hyperplasia of ectodermal and mesodermal cells. Clinical manifestations present on the skin and in the nervous system, kidneys, heart, and other organs. Recent studies estimate the incidence of TS at 1/6000 to 1/10,000 live births, and a prevalence in the general population of approximately 1 in 20,000 (1). There are two different genetic loci responsible for TS: 9q34 (TSC1-hamartin) and 16p13...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29780892/understanding-barriers-to-the-introduction-of-precision-medicines-in-non-small-cell-lung-cancer-a-qualitative-interview-protocol
#5
Stuart Wright, Gavin Daker-White, William Newman, Katherine Payne
Background: While precision medicines targeting genetic mutations and alterations in non-small cell lung cancer (NSCLC) have been available since 2010, their adoption into clinical practice has been slow. Evidence suggests that a number of barriers, such as insufficient clinician knowledge, a need for training of test providers, or a lack of specific clinical guidelines, may slow the implementation of precision in general. However, little attention has been given to the barriers to providing precision medicines in NSCLC...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29780632/management-pathways-for-solitary-pulmonary-nodules
#6
REVIEW
Masaoki Ito, Yoshihiro Miyata, Morihito Okada
Pulmonary nodules are often detected during the clinical course of several diseases or through routine screening. Various guidelines have proposed management algorithms for suspicious solitary nodules in lung cancer. Generally, solitary pulmonary nodules are managed according to nodule appearance and risk of lung cancer using low-dose, thin section computed tomography (CT). Liquid biopsy is promising for diagnosis, therapeutic-monitoring and follow-up in lung cancer; however, diagnosis and management pathways based on genetic examination alone have not been established...
April 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29779902/molecular-genetics-and-metabolism-special-edition-diagnosis-diagnosis-and-prognosis-of-mucopolysaccharidosis-iva
#7
REVIEW
Hira Peracha, Kazuki Sawamoto, Lauren Averill, Heidi Kecskemethy, Mary Theroux, Mihir Thacker, Kyoko Nagao, Christian Pizarro, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to the accumulation of specific glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS), which are mainly synthesized in the cartilage. Therefore, the substrates are stored primarily in the cartilage and its extracellular matrix (ECM), leading to a direct impact on bone development and successive systemic skeletal spondylepiphyseal dysplasia...
May 15, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29778561/severe-xanthomatosis-in-heterozygous-familial-hypercholesterolemia
#8
Sumayah Aljenedil, Isabelle Ruel, Kevin Watters, Jacques Genest
BACKGROUND: Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corneus) and early onset atherosclerotic cardiovascular disease. Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B or proprotein convertase subtilisin/kexin type 9 genes. Rare mutations in low-density lipoprotein receptor adapter protein 1, APOE p...
April 3, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29778209/ovine-mannheimia-haemolytica-isolates-from-lungs-with-and-without-pneumonic-lesions-belong-to-similar-genotypes
#9
Andrés García-Alvarez, José Francisco Fernández-Garayzábal, Fernando Chaves, Chris Pinto, Dolores Cid
This study investigated the genetic characteristics of 121 ovine Mannheimia haemolytica isolates from lungs with (n = 75) and without pneumonic lesions (n = 46) using multilocus sequence typing (MLST), virulence-associated gene typing and pulsed-field gel electrophoresis (PFGE). Twelve STs were identified with most isolates (81%) belonged to ST16, ST28 and ST8. Analysis of the M. haemolytica MLST Database indicate a wide distribution of these genotypes in small ruminants, never reported in bovine isolates...
June 2018: Veterinary Microbiology
https://www.readbyqxmd.com/read/29777599/immense-random-colocalization-revealed-by-automated-high-content-image-cytometry-seriously-questions-fish-as-gold-standard-for-detecting-eml4-alk-fusion
#10
Gábor Smuk, Tamás Tornóczky, László Pajor, Ilse Chudoba, Béla Kajtár, Veronika Sárosi, Gábor Pajor
EML4-ALK gene fusion (inv2(p21p23)) of non-small cell lung cancer (NSCLC) predisposes to tyrosine kinase inhibitor treatment. One of the gold standard diagnostics is the dual color (DC) break-apart (BA) FISH technique, however, the unusual closeness of the involved genes has been suggested to raise likelihood of random co-localization (RCL) of signals. Although this is suspected to decrease sensitivity (often to as low as 40-70%), the exact level and effect of RCL has not been revealed thus far. Signal distances were analyzed to the 0...
May 19, 2018: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/29775480/titan-cells-formation-in-cryptococcus-neoformans-is-finely-tuned-by-environmental-conditions-and-modulated-by-positive-and-negative-genetic-regulators
#11
Benjamin Hommel, Liliane Mukaremera, Radames J B Cordero, Carolina Coelho, Christopher A Desjardins, Aude Sturny-Leclère, Guilhem Janbon, John R Perfect, James A Fraser, Arturo Casadevall, Christina A Cuomo, Françoise Dromer, Kirsten Nielsen, Alexandre Alanio
The pathogenic fungus Cryptococcus neoformans exhibits morphological changes in cell size during lung infection, producing both typical size 5 to 7 μm cells and large titan cells (> 10 μm and up to 100 μm). We found and optimized in vitro conditions that produce titan cells in order to identify the ancestry of titan cells, the environmental determinants, and the key gene regulators of titan cell formation. Titan cells generated in vitro harbor the main characteristics of titan cells produced in vivo including their large cell size (>10 μm), polyploidy with a single nucleus, large vacuole, dense capsule, and thick cell wall...
May 2018: PLoS Pathogens
https://www.readbyqxmd.com/read/29774203/small-rho-gtpases-and-the-effector-vipa-mediate-the-invasion-of-epithelial-cells-by-filamentous-legionella-pneumophila
#12
Akriti Prashar, María Eugenia Ortiz, Stefanie Lucarelli, Elizabeth Barker, Zohreh Tabatabeiyazdi, Feras Shamoun, Deepa Raju, Costin Antonescu, Cyril Guyard, Mauricio R Terebiznik
Legionella pneumophila (Lp) exhibits different morphologies with varying degrees of virulence. Despite their detection in environmental sources of outbreaks and in respiratory tract secretions and lung autopsies from patients, the filamentous morphotype of Lp remains poorly studied. We previously demonstrated that filamentous Lp invades lung epithelial cells (LECs) and replicates intracellularly in a Legionella containing vacuole. Filamentous Lp activates β1integrin and E-cadherin receptors at the surface of LECs leading to the formation of actin-rich cell membrane structures we termed hooks and membrane wraps...
2018: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/29773608/what-s-in-a-name-that-which-we-call-ipf-by-any-other-name-would-act-the-same
#13
Athol U Wells, Kevin K Brown, Kevin R Flaherty, Martin Kolb, Victor J Thannickal
Idiopathic pulmonary fibrosis (IPF) remains a truly idiopathic fibrotic disease, with a modest genetic predilection and candidate triggers but no overall explanation for the development of disease in non-familial cases. Agreement on terminology has contributed to major clinical and translational advances since the millennium. It is likely that the entity currently captured by the term "IPF" will be radically reclassified over the next decade, either through "splitting" (into IPF subgroups responding selectively to individual disease-modifying agents) or through "lumping" of IPF with other forms of progressive fibrotic lung disease (with shared pathogenetic mechanisms and IPF-like disease behaviour)...
May 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29773172/seleno-l-methionine-and-l-ascorbic-acid-differentiate-the-biological-activity-of-doxorubicin-and-its-metal-complexes-as-a-new-anticancer-drugs-candidate
#14
Marzena Matejczyk, Grzegorz Świderski, Renata Świsłocka, Stanisław Józef Rosochacki, Włodzimierz Lewandowski
The most important problems of anti-cancer therapy include the toxicity of the drugs applied to healthy cells and the multi-drug cells resistance to chemotherapeutics. One of the most commonly used anticancer drugs is doxorubicin (DOX) used to treat certain leukemias and non-Hodgkin's lymphomas, as well as bladder, breast, stomach, lung, ovarian, thyroid, multiple myeloma and other cancers. Preliminary studies showed that metal complex with DOX improve its cytostatic activity with changes in their molecular structure and distribution of electrons, resulting in a substantial change of its biological activity (including antitumor activity)...
July 2018: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/29773137/microsatellite-pattern-analysis-of-neospora-caninum-from-a-naturally-infected-goat-fetus
#15
Lucía María Campero, María Laura Gos, Dadin Prando Moore, Javier Regidor-Cerrillo, Juan Manuel Unzaga, Gastón Moré, Luis Miguel Ortega-Mora, María Cecilia Venturini
Neospora caninum is an apicomplexan protozoan responsible for abortion in ruminants. The present study aimed to diagnose an abortion from an Anglo Nubian goat from a dairy herd located in Buenos Aires province, Argentina. The goat delivered a fetus of approximately 3 months gestation that was studied by indirect fluorescent antibody test (IFAT), Immunoblot (IB), histopathology (HP), immunohistochemistry (IHC), and molecular assays (PCR, sequencing and microsatellite genotyping). Interferon gamma knock-out mice were inoculated with a pool of tissues for isolation attempts...
May 15, 2018: Veterinary Parasitology
https://www.readbyqxmd.com/read/29772011/induction-of-influenza-specific-local-cd8-t-cells-in-the-respiratory-tract-after-aerosol-delivery-of-vaccine-antigen-or-virus-in-the-babraham-inbred-pig
#16
Katie Tungatt, Garry Dolton, Sophie B Morgan, Meriem Attaf, Anna Fuller, Thomas Whalley, Johanneke D Hemmink, Emily Porter, Barbara Szomolay, Maria Montoya, John A Hammond, John J Miles, David K Cole, Alain Townsend, Mick Bailey, Pierre J Rizkallah, Bryan Charleston, Elma Tchilian, Andrew K Sewell
There is increasing evidence that induction of local immune responses is a key component of effective vaccines. For respiratory pathogens, for example tuberculosis and influenza, aerosol delivery is being actively explored as a method to administer vaccine antigens. Current animal models used to study respiratory pathogens suffer from anatomical disparity with humans. The pig is a natural and important host of influenza viruses and is physiologically more comparable to humans than other animal models in terms of size, respiratory tract biology and volume...
May 2018: PLoS Pathogens
https://www.readbyqxmd.com/read/29771992/first-description-of-echinococcus-ortleppi-and-cystic-echinococcosis-infection-status-in-chile
#17
Felipe Corrêa, Caroll Stoore, Pamina Horlacher, Mauricio Jiménez, Christian Hidalgo, Cristian A Alvarez Rojas, Guilherme Figueiredo Barros, Henrique Bunselmeyer Ferreira, Marcela Hernández, Gonzalo Cabrera, Rodolfo Paredes
Cystic echinococcosis (CE), a parasitic disease caused by the cestode Echinococcus granulosus sensu lato (s.l.), is a worldwide zoonotic infection. Although endemic in Chile, information on the molecular characteristics of CE in livestock remains scarce. Therefore we aimed to describe the status of infection with E. granulosus s.l. in cattle from central Chile and also to contribute to the study of the molecular epidemiology of this parasite. According to our results, the prevalence of CE is 18.84% in cattle, similar to previous reports from Chile, suggesting that the prevalence in Santiago Metropolitan area has not changed in the last 30 years...
2018: PloS One
https://www.readbyqxmd.com/read/29770457/abo-genotyping-with-next-generation-sequencing-to-resolve-heterogeneity-in-donors-with-serology-discrepancies
#18
Ping Chun Wu, Yin-Hung Lin, Lei Fang Tsai, Ming Hung Chen, Pei-Lung Chen, Shun-Chung Pai
BACKGROUND: ABO subtypes are characterized by the alteration of antigens present and their expression levels on red blood cells and many are linked to genetic changes in the ABO gene. Weakened expression of antigens should be identified to prevent transfusion reactions or ABO-incompatible transplantations. Genotyping can be applied to identify subtypes to complement serologic testing. Next-generation sequencing (NGS) has shown to provide sensitive and accurate genotyping results as well as valuable cis/trans information...
May 16, 2018: Transfusion
https://www.readbyqxmd.com/read/29770232/long-term-follow-up-of-adamantinoma-of-the-tibia-complicated-by-metastases-and-a-second-unrelated-primary-cancer-a-case-report-and-literature-review
#19
Brendan R Southam, Alvin H Crawford, David A Billmire, James Geller, Daniel Von Allmen, Adam P Schumaier, Sara Szabo
Adamantinoma is a rare, low-grade malignant tumor of the bone which grows slowly and typically occurs in the diaphysis of long bones, particularly in the tibia. Adamantinomas have the potential for local recurrence and may metastasize to the lungs, lymph nodes, or bone. We report a case of a 14-year-old female with a tibial adamantinoma who underwent wide resection with limb salvage and has subsequently been followed up for 18 years. The patient went on to have both a local soft tissue recurrence 5 years after the resection and metastases to both an inguinal lymph node and the right lower lobe of the lung 8 years after that recurrence, all of which have been treated successfully with marginal resections...
2018: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29768684/practical-approach-to-the-gastrointestinal-manifestations-of-cystic-fibrosis
#20
REVIEW
Rishi Bolia, Chee Y Ooi, Peter Lewindon, Jonathan Bishop, Sarath Ranganathan, Jo Harrison, Kristyn Ford, Natalie van der Haak, Mark R Oliver
Cystic fibrosis (CF) is the most common, life-shortening, genetic illness affecting children in Australia and New Zealand. The genetic abnormality results in abnormal anion transport across the apical membrane of epithelial cells in a number of organs, including the lungs, gastrointestinal tract, liver and genito-urinary tract. Thus, CF is a multi-system disorder that requires a multi-disciplinary approach. Respiratory disease is the predominant cause of both morbidity and mortality in patients with CF. However, there are significant and clinically relevant gastrointestinal, liver, pancreatic and nutritional manifestations that must be detected and managed in a timely and structured manner...
May 16, 2018: Journal of Paediatrics and Child Health
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