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1. Working group summary of the 2023 full update of the Finnish national guidelines for paediatric lower respiratory tract infections.

Author

Backman, Katri, Helminen, Merja, Kekäläinen, Eliisa, Mikkola, Ilona, Nieminen, Tea, Nuolivirta, Kirsi, Peltola, Ville, Seuri, Raija, Walle, Satu‐Maaria, and Ruuska‐Loewald, Terhi

Subjects
*RESPIRATORY infections, *WHOOPING cough, *ALBUTEROL, *BRONCHIOLITIS, *CORTICOSTEROIDS, *COUGH
Abstract

Aim Methods Results Conclusion The first evidence‐based Finnish guidelines for paediatric lower respiratory tract infections (LRTIs) were published in 2014 and completely updated in 2023. This paper, by the interdisciplinary working group that developed the 2023 guidelines, summarises the main recommendations.The 2023 guidelines were produced after a systematic review. Strong evidence was at least two separate, high‐quality studies, moderate evidence was at least one high‐quality study and weak evidence was at least one satisfactory study. The authors have now summarised the key points.There was strong evidence that antitussives and beta‐sympathomimetics were not effective for bronchitis‐related cough and that laryngitis should be treated with oral corticosteroids, with adrenaline inhalations added in severe cases. Also, that amoxicillin for 5 days provided sufficient treatment for paediatric community‐acquired pneumonia and that children with apparent viral pneumonia could be observed without antimicrobial therapy. There was moderate evidence that corticosteroids or inhaled agents were not effective for bronchiolitis and that administering salbutamol with a holding chamber could relieve symptoms of wheezing bronchitis. Also, pertussis should be considered for unvaccinated infants with coughs.The 2023 guidelines aim to improve acute evidence‐based treatment of LRTIs, through appropriate antibiotics, inhaled drugs, corticosteroids, radiology and laboratory testing. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders

Author

Slack, James, Albert, Michael H, Balashov, Dmitry, Belohradsky, Bernd H, Bertaina, Alice, Bleesing, Jack, Booth, Claire, Buechner, Jochen, Buckley, Rebecca H, Ouachée-Chardin, Marie, Deripapa, Elena, Drabko, Katarzyna, Eapen, Mary, Feuchtinger, Tobias, Finocchi, Andrea, Gaspar, H Bobby, Ghosh, Sujal, Gillio, Alfred, Gonzalez-Granado, Luis I, Grunebaum, Eyal, Güngör, Tayfun, Heilmann, Carsten, Helminen, Merja, Higuchi, Kohei, Imai, Kohsuke, Kalwak, Krzysztof, Kanazawa, Nubuo, Karasu, Gülsün, Kucuk, Zeynep Y, Laberko, Alexandra, Lange, Andrzej, Mahlaoui, Nizar, Meisel, Roland, Moshous, D, Muramatsu, Hideki, Parikh, Suhag, Pasic, Srdjan, Schmid, Irene, Schuetz, Catharina, Schulz, Ansgar, Schultz, Kirk R, Shaw, Peter J, Slatter, Mary A, Sykora, Karl-Walter, Tamura, Shinobu, Taskinen, Mervi, Wawer, Angela, Wolska-Kuśnierz, Beata, Cowan, Morton J, Fischer, Alain, and Gennery, Andrew R

Subjects
Rare Diseases, Transplantation, Hematology, Genetics, Cancer, Pediatric, Adolescent, Alleles, Child, Child, Preschool, DNA Breaks, Double-Stranded, DNA Repair, DNA Repair-Deficiency Disorders, Female, Follow-Up Studies, Graft vs Host Disease, Hematopoietic Stem Cell Transplantation, Humans, Infant, Kaplan-Meier Estimate, Male, Mutation, Prognosis, Treatment Outcome, Virus Diseases, Young Adult, Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA repair disorders, DNA ligase IV deficiency, hematopoietic stem cell transplantation, Nijmegen breakage syndrome, Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies, Stem Cell Transplant for Immunodeficiencies in Europe, Center for International Blood and Marrow Transplant Research, Primary Immunodeficiency Treatment Consortium, Immunology, Allergy
Abstract

BackgroundRare DNA breakage repair disorders predispose to infection and lymphoreticular malignancies. Hematopoietic cell transplantation (HCT) is curative, but coadministered chemotherapy or radiotherapy is damaging because of systemic radiosensitivity. We collected HCT outcome data for Nijmegen breakage syndrome, DNA ligase IV deficiency, Cernunnos-XRCC4-like factor (Cernunnos-XLF) deficiency, and ataxia-telangiectasia (AT).MethodsData from 38 centers worldwide, including indication, donor, conditioning regimen, graft-versus-host disease, and outcome, were analyzed. Conditioning was classified as myeloablative conditioning (MAC) if it contained radiotherapy or alkylators and reduced-intensity conditioning (RIC) if no alkylators and/or 150 mg/m2 fludarabine or less and 40 mg/kg cyclophosphamide or less were used.ResultsFifty-five new, 14 updated, and 18 previously published patients were analyzed. Median age at HCT was 48 months (range, 1.5-552 months). Twenty-nine patients underwent transplantation for infection, 21 had malignancy, 13 had bone marrow failure, 13 received pre-emptive transplantation, 5 had multiple indications, and 6 had no information. Twenty-two received MAC, 59 received RIC, and 4 were infused; information was unavailable for 2 patients. Seventy-three of 77 patients with DNA ligase IV deficiency, Cernunnos-XLF deficiency, or Nijmegen breakage syndrome received conditioning. Survival was 53 (69%) of 77 and was worse for those receiving MAC than for those receiving RIC (P = .006). Most deaths occurred early after transplantation, suggesting poor tolerance of conditioning. Survival in patients with AT was 25%. Forty-one (49%) of 83 patients experienced acute GvHD, which was less frequent in those receiving RIC compared with those receiving MAC (26/56 [46%] vs 12/21 [57%], P = .45). Median follow-up was 35 months (range, 2-168 months). No secondary malignancies were reported during 15 years of follow-up. Growth and developmental delay remained after HCT; immune-mediated complications resolved.ConclusionRIC HCT resolves DNA repair disorder-associated immunodeficiency. Long-term follow-up is required for secondary malignancy surveillance. Routine HCT for AT is not recommended.

Published
2018

4. Properdin Deficiency

Author

Helminen, Merja, Sullivan, Kathleen, Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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6. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Author

Adhya, Zoe, Alachkar, Hana, Anantharachagan, Ariharan, Antrobus, Richard, Arumugakani, Gururaj, Ashford, Sofie, Astle, William J., Attwood, Anthony, Bacchelli, Chiara, Batista, Joana, Baxendale, Helen E., Bethune, Claire, Bibi, Shahnaz, Bleda, Marta, Boardman, Barbara, Booth, Claire, Bradley, John R., Breen, Gerome, Brown, Matthew, Browning, Michael J., Brownlie, Mary, Buckland, Matthew S., Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Chandra, Anita, Brod, Naomi Clements, Clifford, Hayley, Cooper, Nichola, Daugherty, Louise C., Davies, E.G., Davies, Sophie, Davis, John, Deacock, Sarah, Deevi, Sri V.V., Dempster, John, Devlin, Lisa A., Dewhurst, Eleanor F., Downes, Kate, Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Edwards, Karen, Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fletcher, Debra, Fox, James, Frary, Amy J., Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Ghurye, Rohit, Gilmour, Kimberly C., Gleadall, Nicholas S., Goddard, Sarah, Gordins, Pavels, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Harper, Lorraine, Hayman, Grant, Herwadkar, Archana, Hu, Fengyuan, Hughes, Stephen, Huissoon, Aarnoud P., James, Roger, Jolles, Stephen, Jolley, Jennifer, Jones, Julie, Karim, Yousuf, Kasanicki, Mary A., Kelleher, Peter, Kempster, Carly, Kiani, Sorena, Kingston, Nathalie, Klein, Nigel, Kostadima, Myrto, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Laffan, James, Allen, Hana Lango, Lear, Sara E., Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Lyons, Paul A., Maimaris, Jesmeen, Manson, Ania, Mapeta, Rutendo, Martin, Jennifer, McCarthy, Mark I., McDermott, Elizabeth M., McKinney, Harriet, Meacham, Stuart, Megy, Karyn, Millar, Hazel, Mistry, Anoop, Morrisson, Valerie, Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ouwehand, Willem H., Papadia, Sofia, Penkett, Christopher J., Petersen, Romina, Ponsford, Mark J., Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raymond, F. Lucy, Rayner-Matthews, Paula J., Richter, Alex, Samani, Nilesh, Samarghitean, Crina, Sanchis-Juan, Alba, Sargur, Ravishankar B., Savic, Sinisa, Seneviratne, Suranjith L., Sewell, W.A. Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Simeoni, Ilenia, Simpson, Michael A., Smith, Kenneth G.C., Staines, Simon, Staples, Emily, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stephens, Jonathan, Stirrups, Kathleen E., Thaventhiran, James E., Thomas, David, Thomas, Moira J., Thomas, Patrick, Thrasher, Adrian J., Tilly, Tobias, Titterton, Catherine, Treadaway, Paul, Tuna, Salih, Turro, Ernest, Urniaz, Rafal, von Ziegenweidt, Julie, Walker, Neil, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Willcocks, Lisa, Wood, Nicholas, Wood, Yvette, Workman, Sarita, Worth, Austen, Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Zlamalova, Eliska, Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Frede, Natalie, Proietti, Michele, Bulashevska, Alla, Camacho-Ordonez, Nadezhda, Varjosalo, Markku, Kinnunen, Matias, de Vries, Esther, van der Meer, Jos W.M., Ameratunga, Rohan, Roifman, Chaim M., Schejter, Yael D., Kobbe, Robin, Hautala, Timo, Atschekzei, Faranaz, Schmidt, Reinhold E., Schröder, Claudia, Stepensky, Polina, Shadur, Bella, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Gonzalez-Granado, Luis Ignacio, Allende, Luis M., Shcherbina, Anna, Kuzmenko, Natalia, Zakharova, Victoria, Neves, João Farela, Svec, Peter, Fischer, Ute, Ip, Winnie, Bartsch, Oliver, Barış, Safa, Klein, Christoph, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Boztug, Kaan, Hirschmugl, Tatjana, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Alsina, Laia, Piquer-Gibert, Monica, Deyà-Martínez, Angela, Slade, Charlotte A., Aghamohammadi, Asghar, Abolhassani, Hassan, Hammarström, Lennart, Kuismin, Outi, Helminen, Merja, Freeman, Alexandra F., Cook, Matthew, Bakhtiar, Shahrzad, Christiansen, Mette, Cunningham-Rundles, Charlotte, Patel, Niraj C., Rae, William, Niehues, Tim, Brauer, Nina, Syrjänen, Jaana, Seppänen, Mikko R.J., Tuijnenburg, Paul, Warnatz, Klaus, and Grimbacher, Bodo

Published
2020
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7. Pneumonia, wheezing and asthma were more common in children after thymectomy due to open‐heart surgery

Author

Rantanen, Rea, primary, Honkila, Minna, additional, Kämä, Hanna‐Riikka, additional, Pokka, Tytti, additional, Pihkala, Jaana, additional, Rahkonen, Otto, additional, Mattila, Ilkka, additional, Renko, Marjo, additional, Helminen, Merja, additional, Heinonen, Santtu, additional, Kekäläinen, Eliisa, additional, Kallio, Merja, additional, and Ruuska, Terhi S., additional

Published
2024
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9. Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

Author

Kaustio, Meri, Haapaniemi, Emma, Göös, Helka, Hautala, Timo, Park, Giljun, Syrjänen, Jaana, Einarsdottir, Elisabet, Sahu, Biswajyoti, Kilpinen, Sanna, Rounioja, Samuli, Fogarty, Christopher L., Glumoff, Virpi, Kulmala, Petri, Katayama, Shintaro, Tamene, Fitsum, Trotta, Luca, Morgunova, Ekaterina, Krjutškov, Kaarel, Nurmi, Katariina, Eklund, Kari, Lagerstedt, Anssi, Helminen, Merja, Martelius, Timi, Mustjoki, Satu, Taipale, Jussi, Saarela, Janna, Kere, Juha, Varjosalo, Markku, and Seppänen, Mikko

Published
2017
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10. Tonsillotomy for Periodic Fever Syndrome: A Randomized and Controlled Trial.

Author

Lantto, Ulla, Tapiainen, Terhi, Pokka, Tytti, Koivunen, Petri, Helminen, Merja, Piitulainen, Jaakko, Rekola, Jami, Uhari, Matti, and Renko, Marjo

Abstract

Objective: Tonsillectomy is an effective treatment for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Tonsillotomy has a milder operative risk profile and postoperative morbidity in children than tonsillectomy. We aimed to compare the efficacy of tonsillotomy to observation‐only in children with PFAPA syndrome at a 3‐month follow‐up. Methods: This was a randomized multicenter trial with sequential design. Participants were randomized into a tonsillotomy group and a control group that was only observed. The trial started in 1/2017 and was accomplished in 12/2021 with 16 patients (10 boys, six girls, the mean age 4.2 years). The symptoms were monitored with daily symptom diaries. Results: After the 3‐month follow‐up, 7/8 patients (87.5%) in the tonsillotomy group and 2/8 (25%) patients in the control group were free from PFAPA symptoms (95% CI 13% to 87%; p = 0.0021). The mean number of days with fever was 2.6 (SD 3.7) in the tonsillotomy group and 8.0 (SD 6.5) days in the control group (n = 8) (p = 0.06). Mean number of fever days compatible with PFAPA syndrome was 0.8 (SD 1.4) in the tonsillotomy group and 6.5 (SD 6.0) in the control group (95%CI −10% to −1%; p = 0.007). Rescue tonsillectomy was needed for all patients in the control group and none of the patients in the tonsillotomy group. Conclusions: Tonsillotomy might be an effective treatment option for children with PFAPA syndrome. Further studies are needed to clarify the long‐term efficacy of tonsillotomy for treating PFAPA. Level of Evidence: 2 Laryngoscope, 134:968–972, 2024 [ABSTRACT FROM AUTHOR]

Published
2024
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18. Primaarinen immuunivaje : harvinaisia sairauksia, joiden tunnistaminen on tärkeää

Author

Helminen, Merja, Viskari, Hanna, Tampere University, Lastentautien vastuualue, BioMediTech, and Sisätautien vastuualue

Subjects
3111 Biolääketieteet, 3121 Sisätaudit
Abstract

• Primaarinen immuunivajavuus kattaa joukon synnynnäisiä immuunipuolustuksen häiriöitä, joiden oirekirjo on laaja ja vaihteleva jopa saman geenimutaation kantajilla. • Oireiden ilmaantumisikä vaihtelee imeväisestä aikuisikään. • Primaarinen immuunivajavuus on mahdollinen, jos potilaalla on toistuvia tai epätyypillisiä infektioita, varsinkin jos näihin liittyy autoimmuuni- tai autoinflammatorisia oireita. • Suvussa esiintyvä immuunivajavuus tai suvun poikkeava infektiohistoria voi viitata primaariseen immuunivajavuuteen. • Vakavissa lapsuuden immuunivajeissa kantasolusiirto on usein hengen pelastava toimenpide. publishedVersion

Published
2022

24. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Author

Dobbs, Kerry, Domínguez Conde, Cecilia, Zhang, Shen-Ying, Parolini, Silvia, Audry, Magali, Chou, Janet, Haapaniemi, Emma, Keles, Sevgi, Bilic, Ivan, Okada, Satoshi, Massaad, Michel J., Rounioja, Samuli, Alwahadneh, Adel M., Serwas, Nina K., Capuder, Kelly, Çiftçi, Ergin, Felgentreff, Kerstin, Ohsumi, Toshiro K., Pedergnana, Vincent, Boisson, Bertrand, Haskoloğlu, Şule, Ensari, Arzu, Schuster, Michael, Moretta, Alessandro, Itan, Yuval, Patrizi, Ornella, Rozenberg, Flore, Lebon, Pierre, Saarela, Janna, Knip, Mikael, Petrovski, Slavé, Goldstein, David B., Parrott, Roberta E., Savas, Berna, Schambach, Axel, Tabellini, Giovanna, Bock, Christoph, Chatila, Talal A., Comeau, Anne Marie, Geha, Raif S., Abel, Laurent, Buckley, Rebecca H., İkincioğullar, Aydan, Al-Herz, Waleed, Helminen, Merja, Doğu, Figen, Casanova, Jean-Laurent, Boztuğ, Kaan, and Notarangelo, Luigi D.

Published
2015
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25. Multi‐inflammatory syndrome and Kawasaki disease in children during the COVID‐19 pandemic: A nationwide register‐based study and time series analysis

Author

Koskela, Ulla, primary, Helve, Otto, additional, Sarvikivi, Emmi, additional, Helminen, Merja, additional, Nieminen, Tea, additional, Peltola, Ville, additional, Renko, Marjo, additional, Saxén, Harri, additional, Pasma, Hanna, additional, Pokka, Tytti, additional, Honkila, Minna, additional, and Tapiainen, Terhi, additional

Published
2021
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32. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Author

Lorenzini, Tiziana, primary, Fliegauf, Manfred, additional, Klammer, Nils, additional, Frede, Natalie, additional, Proietti, Michele, additional, Bulashevska, Alla, additional, Camacho-Ordonez, Nadezhda, additional, Varjosalo, Markku, additional, Kinnunen, Matias, additional, de Vries, Esther, additional, van der Meer, Jos W.M., additional, Ameratunga, Rohan, additional, Roifman, Chaim M., additional, Schejter, Yael D., additional, Kobbe, Robin, additional, Hautala, Timo, additional, Atschekzei, Faranaz, additional, Schmidt, Reinhold E., additional, Schröder, Claudia, additional, Stepensky, Polina, additional, Shadur, Bella, additional, Pedroza, Luis A., additional, van der Flier, Michiel, additional, Martínez-Gallo, Mónica, additional, Gonzalez-Granado, Luis Ignacio, additional, Allende, Luis M., additional, Shcherbina, Anna, additional, Kuzmenko, Natalia, additional, Zakharova, Victoria, additional, Neves, João Farela, additional, Svec, Peter, additional, Fischer, Ute, additional, Ip, Winnie, additional, Bartsch, Oliver, additional, Barış, Safa, additional, Klein, Christoph, additional, Geha, Raif, additional, Chou, Janet, additional, Alosaimi, Mohammed, additional, Weintraub, Lauren, additional, Boztug, Kaan, additional, Hirschmugl, Tatjana, additional, Dos Santos Vilela, Maria Marluce, additional, Holzinger, Dirk, additional, Seidl, Maximilian, additional, Lougaris, Vassilios, additional, Plebani, Alessandro, additional, Alsina, Laia, additional, Piquer-Gibert, Monica, additional, Deyà-Martínez, Angela, additional, Slade, Charlotte A., additional, Aghamohammadi, Asghar, additional, Abolhassani, Hassan, additional, Hammarström, Lennart, additional, Kuismin, Outi, additional, Helminen, Merja, additional, Allen, Hana Lango, additional, Thaventhiran, James E., additional, Freeman, Alexandra F., additional, Cook, Matthew, additional, Bakhtiar, Shahrzad, additional, Christiansen, Mette, additional, Cunningham-Rundles, Charlotte, additional, Patel, Niraj C., additional, Rae, William, additional, Niehues, Tim, additional, Brauer, Nina, additional, Syrjänen, Jaana, additional, Seppänen, Mikko R.J., additional, Burns, Siobhan O., additional, Tuijnenburg, Paul, additional, Kuijpers, Taco W., additional, Warnatz, Klaus, additional, Grimbacher, Bodo, additional, Adhya, Zoe, additional, Alachkar, Hana, additional, Anantharachagan, Ariharan, additional, Antrobus, Richard, additional, Arumugakani, Gururaj, additional, Ashford, Sofie, additional, Astle, William J., additional, Attwood, Anthony, additional, Bacchelli, Chiara, additional, Batista, Joana, additional, Baxendale, Helen E., additional, Bethune, Claire, additional, Bibi, Shahnaz, additional, Bleda, Marta, additional, Boardman, Barbara, additional, Booth, Claire, additional, Bradley, John R., additional, Breen, Gerome, additional, Brown, Matthew, additional, Browning, Michael J., additional, Brownlie, Mary, additional, Buckland, Matthew S., additional, Burren, Oliver S., additional, Carss, Keren, additional, Chambers, John, additional, Chandra, Anita, additional, Brod, Naomi Clements, additional, Clifford, Hayley, additional, Cooper, Nichola, additional, Daugherty, Louise C., additional, Davies, E.G., additional, Davies, Sophie, additional, Davis, John, additional, Deacock, Sarah, additional, Deevi, Sri V.V., additional, Dempster, John, additional, Devlin, Lisa A., additional, Dewhurst, Eleanor F., additional, Downes, Kate, additional, Drewe, Elizabeth, additional, Duarte, Daniel, additional, Edgar, J. David M., additional, Edwards, Karen, additional, Egner, William, additional, El-Shanawany, Tariq, additional, Erwood, Marie, additional, Fletcher, Debra, additional, Fox, James, additional, Frary, Amy J., additional, Frontini, Mattia, additional, Furnell, Abigail, additional, Gaspar, H. Bobby, additional, Ghurye, Rohit, additional, Gilmour, Kimberly C., additional, Gleadall, Nicholas S., additional, Goddard, Sarah, additional, Gordins, Pavels, additional, Gräf, Stefan, additional, Grassi, Luigi, additional, Greene, Daniel, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hague, Rosie, additional, Haimel, Matthias, additional, Harper, Lorraine, additional, Hayman, Grant, additional, Herwadkar, Archana, additional, Hu, Fengyuan, additional, Hughes, Stephen, additional, Huissoon, Aarnoud P., additional, James, Roger, additional, Jolles, Stephen, additional, Jolley, Jennifer, additional, Jones, Julie, additional, Karim, Yousuf, additional, Kasanicki, Mary A., additional, Kelleher, Peter, additional, Kempster, Carly, additional, Kiani, Sorena, additional, Kingston, Nathalie, additional, Klein, Nigel, additional, Kostadima, Myrto, additional, Kreuzhuber, Roman, additional, Kumararatne, Dinakantha, additional, Laffan, James, additional, Lear, Sara E., additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena E., additional, Lyons, Paul A., additional, Maimaris, Jesmeen, additional, Manson, Ania, additional, Mapeta, Rutendo, additional, Martin, Jennifer, additional, McCarthy, Mark I., additional, McDermott, Elizabeth M., additional, McKinney, Harriet, additional, Meacham, Stuart, additional, Megy, Karyn, additional, Millar, Hazel, additional, Mistry, Anoop, additional, Morrisson, Valerie, additional, Murng, Sai H.K., additional, Nasir, Iman, additional, Nejentsev, Sergey, additional, Noorani, Sadia, additional, Oksenhendler, Eric, additional, Ouwehand, Willem H., additional, Papadia, Sofia, additional, Penkett, Christopher J., additional, Petersen, Romina, additional, Ponsford, Mark J., additional, Qasim, Waseem, additional, Quinn, Ellen, additional, Quinti, Isabella, additional, Raymond, F. Lucy, additional, Rayner-Matthews, Paula J., additional, Richter, Alex, additional, Samani, Nilesh, additional, Samarghitean, Crina, additional, Sanchis-Juan, Alba, additional, Sargur, Ravishankar B., additional, Savic, Sinisa, additional, Seneviratne, Suranjith L., additional, Sewell, W.A. Carrock, additional, Seyres, Denis, additional, Shackley, Fiona, additional, Shamardina, Olga, additional, Simeoni, Ilenia, additional, Simpson, Michael A., additional, Smith, Kenneth G.C., additional, Staines, Simon, additional, Staples, Emily, additional, Stark, Hannah, additional, Stauss, Hans, additional, Steele, Cathal L., additional, Stephens, Jonathan, additional, Stirrups, Kathleen E., additional, Thomas, David, additional, Thomas, Moira J., additional, Thomas, Patrick, additional, Thrasher, Adrian J., additional, Tilly, Tobias, additional, Titterton, Catherine, additional, Treadaway, Paul, additional, Tuna, Salih, additional, Turro, Ernest, additional, Urniaz, Rafal, additional, von Ziegenweidt, Julie, additional, Walker, Neil, additional, Watt, Christopher, additional, Welch, Steven B., additional, Whitehorn, Deborah, additional, Willcocks, Lisa, additional, Wood, Nicholas, additional, Wood, Yvette, additional, Workman, Sarita, additional, Worth, Austen, additional, Yates, Katherine, additional, Yeatman, Nigel, additional, Yong, Patrick F.K., additional, Young, Timothy, additional, Yu, Ping, additional, and Zlamalova, Eliska, additional

Published
2020
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34. Clostridium difficile -löydökset TAYS:n lastenyksiköissä

Author

Rautiainen, Nikole, Vuento, Risto, Helminen, Merja, Lääketieteen ja terveysteknologian tiedekunta - Faculty of Medicine and Health Technology, and Tampere University

Subjects
Biolääketieteet - Biomedicine, Naisten- ja lastentaudit - Gynaecology and paediatrics
Published
2020

38. Use of electroporation to construct isogenic mutants of Haemophilus ducreyi

Author

Hansen, Eric J., Latimer, Jo L., Thomas, Sharon E., Helminen, Merja, Albritton, William L., and Radolf, Justin D.

Subjects
Bioelectrochemistry -- Usage, Chancroid -- Research, Biological sciences
Abstract

Electroporation was used to construct isogenic mutants of Haemophilus ducreyi. The electroporation of both linear and circular DNA molecules resulted in the isolation of antibiotic-resistant transformants. The efficiency of elimination of MAb reactivity was much higher with the linearized form of the mutated plasmid compared with the circular form. Homologous recombination of the mutated alleles into the chromosome also occurred when linear, recombinant DNA molecules were electroporated into H. ducreyi.

Published
1992

44. IL17F rs763780 single nucleotide polymorphism is associated with asthma after bronchiolitis in infancy.

Author

Holster, Annukka, Teräsjärvi, Johanna, Barkoff, Alex‐Mikael, Lauhkonen, Eero, Törmänen, Sari, Helminen, Merja, Korppi, Matti, He, Qiushui, and Nuolivirta, Kirsi

Subjects
SINGLE nucleotide polymorphisms, BRONCHIOLITIS, ASTHMA in children, ASTHMA, INFANTS, SYMPTOMS
Abstract

Aim: Interleukin‐17F (IL‐17F) is involved with asthma. The aim of this study was to evaluate the association of IL17F polymorphisms with childhood asthma after bronchiolitis in infancy. Methods: We invited 166 children who were hospitalised for bronchiolitis at younger than 6 months of age to follow‐up visits at 5‐7 years and 11‐13 years of ages. Asthma and allergy diagnoses, asthma‐presumptive symptoms and use of inhaled corticosteroids (ICSs) were registered. Blood samples were available for IL17F rs763780 (T/C), rs11465553 (C/T) and rs7741835 (C/T) determinations in 165 cases. Results: The presence of IL17F rs11465553 and rs7741835 variations showed no significant associations with any asthma or allergy outcome at either 5‐7 years or 11‐13 years of ages. Instead, children with the variant IL17F rs763780 genotype had used more often ICSs between the follow‐up visits from 5‐7 to 11‐13 years (adjusted OR 3.58) than those with the wild genotype. Children with the variant IL17F rs763780 genotype reported more often doctor‐diagnosed atopic dermatitis (adjusted OR 2.71) at 11‐13 years of age than those with the wild genotype. Conclusion: This prospective long‐term follow‐up study provided preliminary evidence on the association of the IL17F rs763780 polymorphism with asthma at school age after bronchiolitis in infancy. [ABSTRACT FROM AUTHOR]

Published
2021
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45. Toll-like receptor 10 rs4129009 gene polymorphism is associated with post-bronchiolitis lung function in adolescence.

Author

Riikonen, Riikka, Korppi, Matti, Törmänen, Sari, Nuolivirta, Kirsi, Helminen, Merja, He, Qiushui, and Lauhkonen, Eero

Subjects
TOLL-like receptors, GENETIC polymorphisms, LUNGS, ADOLESCENCE, GENOTYPES, RESEARCH, RESEARCH methodology, CELL receptors, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies, BRONCHIOLE diseases, RESEARCH funding, LONGITUDINAL method
Abstract

Aim: The aim was to evaluate the association of polymorphisms in the Toll-like receptor (TLR) 2 subfamily encoding genes with lung function by spirometry at 10-13 years of age in children who had been hospitalised for bronchiolitis at <6 months of age.Methods: In a prospective cohort of 166 former bronchiolitis patients, 138 returned a structured questionnaire and 89 attended a clinical follow-up visit including spirometry before and after bronchodilation at 10-13 years of age. Data on polymorphisms of the TLR1, TLR2, TLR6 and TLR10 genes were available from 81-82 children.Results: In the TLR10 rs4129009, the wild (AA) genotype was associated with lower FEV1/FVC before (92.4 vs 97.4, P = .002) and after (95.5 vs 98.6, P = .011) bronchodilator administration, compared to those with the variant genotype. When the TLR10 rs4129009 and TLR2 rs5743708 genotypes, and the TLR10 rs4129009 and TLR1 rs5743618 genotypes, respectively, were analysed as combined, both baseline and post-bronchodilator FEV1/FVC were lowest in the subjects with the wild (AA) genotype of the TLR10 rs4129009.Conclusion: In this post-bronchiolitis follow-up, lung function in children with the variant TLR10 rs4129009 genotype with potentially altered TLR10 function was superior to lung function in those with the wild genotype. [ABSTRACT FROM AUTHOR]

Published
2020
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