Low testosterone at age 31 associates with maternal obesity and higher body mass index from childhood until age 46: A birth cohort study.

Autor: Laru J; Department of Obstetrics and Gynecology, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, Oulu, Finland.; Medical Research Center, Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland., Pinola P; Department of Obstetrics and Gynecology, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, Oulu, Finland.; Medical Research Center, Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland., Ojaniemi M; Medical Research Center, Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.; Department of Children and Adolescents, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia Oulu, Oulu, Finland., Korhonen E; Department of Obstetrics and Gynecology, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, Oulu, Finland.; Medical Research Center, Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland., Laikari L; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Franks S; Institute of Reproductive and Developmental Biology, Imperial College London, London, UK., Piltonen TT; Department of Obstetrics and Gynecology, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, Oulu, Finland.; Medical Research Center, Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland., Tapanainen JS; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Department of Obstetrics and Gynaecology, HFR - Cantonal Hospital of Fribourg and University of Fribourg, Fribourg, Switzerland., Niinimäki M; Department of Obstetrics and Gynecology, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, Oulu, Finland.; Medical Research Center, Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland., Morin-Papunen L; Department of Obstetrics and Gynecology, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, Oulu, Finland.; Medical Research Center, Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.

Publikováno v: Andrology [Andrology] 2024 Feb; Vol. 12 (2), pp. 327-337. Date of Electronic Publication: 2023 Jul 17.

Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.

Autor: Makkonen K; Department of Clinical Sciences, Faculty of Medicine, and.; Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland., Jännäri M; Department of Clinical Sciences, Faculty of Medicine, and.; Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland., Crisóstomo L; Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland., Kuusi M; Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland., Patyra K; Department of Clinical Sciences, Faculty of Medicine, and.; Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland., Melnyk V; Department of Clinical Sciences, Faculty of Medicine, and., Linnossuo V; Department of Clinical Sciences, Faculty of Medicine, and., Ojala J; Department of Clinical Sciences, Faculty of Medicine, and., Ravi R; Department of Clinical Sciences, Faculty of Medicine, and., Löf C; Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland., Mäkelä JA; Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland., Miettinen P; New Children's Hospital, Helsinki University Hospital, Helsinki, Finland., Laakso S; New Children's Hospital, Helsinki University Hospital, Helsinki, Finland., Ojaniemi M; Department of Pediatrics and Adolescence, PEDEGO Research Unit and Medical Research Center, University and University Hospital of Oulu, Oulu, Finland., Jääskeläinen J; Department of Pediatrics, Kuopio University Hospital, Kuopio, Finland., Laakso M; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland., Bossowski F; Department of Pediatrics, Endocrinology, Diabetes with a Cardiology Unit, Medical University in Białystok, Bialystok, Poland., Sawicka B; Department of Pediatrics, Endocrinology, Diabetes with a Cardiology Unit, Medical University in Białystok, Bialystok, Poland., Stożek K; Department of Pediatrics, Endocrinology, Diabetes with a Cardiology Unit, Medical University in Białystok, Bialystok, Poland., Bossowski A; Department of Pediatrics, Endocrinology, Diabetes with a Cardiology Unit, Medical University in Białystok, Bialystok, Poland., Kleinau G; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, and.; Humboldt - Universität zu Berlin, Institute of Medical Physics, Biophysics, Group Structural Biology of Cellular Signaling, Berlin, Germany., Scheerer P; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, and.; Humboldt - Universität zu Berlin, Institute of Medical Physics, Biophysics, Group Structural Biology of Cellular Signaling, Berlin, Germany., FinnGen F; Institute for Molecular Medicine Finland, HiLIFE, University of Helsinki, Helsinki, Finland.; FinnGen is detailed in Supplemental Acknowledgments., Reeve MP; Institute for Molecular Medicine Finland, HiLIFE, University of Helsinki, Helsinki, Finland., Kero J; Department of Clinical Sciences, Faculty of Medicine, and.; Department of Pediatrics and Adolescent Medicine, Turku University Hospital, Turku, Finland.

Publikováno v: JCI insight [JCI Insight] 2024 Jan 09; Vol. 9 (4). Date of Electronic Publication: 2024 Jan 09.

Heart Rate and Heart Rate Variability in Healthy Preterm-Born Young Adults and Association with Vitamin D: A Wearable Device Assessment.

Autor: Björkman K; Department of Pediatrics, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, Pohde, 90220 Oulu, Finland.; Research Unit of Clinical Medicine, University of Oulu, 90014 Oulu, Finland.; Medical Research Center, University of Oulu, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, 90014 Oulu, Finland., Valkama M; Department of Pediatrics, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, Pohde, 90220 Oulu, Finland.; Research Unit of Clinical Medicine, University of Oulu, 90014 Oulu, Finland.; Medical Research Center, University of Oulu, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, 90014 Oulu, Finland., Bruun E; Department of Pediatrics, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, Pohde, 90220 Oulu, Finland.; Research Unit of Clinical Medicine, University of Oulu, 90014 Oulu, Finland.; Medical Research Center, University of Oulu, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, 90014 Oulu, Finland., Pätsi P; Department of Pediatrics, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, Pohde, 90220 Oulu, Finland.; Research Unit of Clinical Medicine, University of Oulu, 90014 Oulu, Finland.; Medical Research Center, University of Oulu, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, 90014 Oulu, Finland., Kulmala P; Department of Pediatrics, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, Pohde, 90220 Oulu, Finland.; Research Unit of Clinical Medicine, University of Oulu, 90014 Oulu, Finland.; Medical Research Center, University of Oulu, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, 90014 Oulu, Finland.; Faculty of Medicine, University of Oulu, 90014 Oulu, Finland., Tulppo MP; Medical Research Center, University of Oulu, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, 90014 Oulu, Finland.; Research Unit of Biomedicine and Internal Medicine, University of Oulu, 90014 Oulu, Finland., Leskinen M; Department of Pediatrics, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, Pohde, 90220 Oulu, Finland.; Research Unit of Clinical Medicine, University of Oulu, 90014 Oulu, Finland.; Medical Research Center, University of Oulu, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, 90014 Oulu, Finland., Ojaniemi M; Department of Pediatrics, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, Pohde, 90220 Oulu, Finland.; Research Unit of Clinical Medicine, University of Oulu, 90014 Oulu, Finland.; Medical Research Center, University of Oulu, Oulu University Hospital, Wellbeing Services County of North Ostrobothnia, 90014 Oulu, Finland.

Publikováno v: Journal of clinical medicine [J Clin Med] 2023 Dec 05; Vol. 12 (24). Date of Electronic Publication: 2023 Dec 05.

Meta-analysis of genome-wide association studies of gestational duration and spontaneous preterm birth identifies new maternal risk loci.

Autor: Pasanen A; Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu, and Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland., Karjalainen MK; Research Unit of Population Health, Faculty of Medicine, University of Oulu, Oulu, Finland., Zhang G; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Center for Prevention of Preterm Birth, Perinatal Institute and March of Dimes Prematurity Research Center Ohio Collaborative, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America., Tiensuu H; Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu, and Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland., Haapalainen AM; Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu, and Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland., Ojaniemi M; Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu, and Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland., Feenstra B; Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark., Jacobsson B; Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Science, University of Gothenburg, Gothenburg, Sweden.; Department of Genetics and Bioinformatics, Health Data and Digitalization, Norwegian Institute of Public Health, Oslo, Norway., Palotie A; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America.; Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Analytic and Translational Genetics Unit, Department of Medicine, and the Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States of America., Laivuori H; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Center for Child, Adolescent, and Maternal Health Research, Faculty of Medicine and Health Technology, University of Tampere, Tampere, Finland.; Department of Obstetrics and Gynecology, Tampere University Hospital, Tampere, Finland., Muglia LJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Center for Prevention of Preterm Birth, Perinatal Institute and March of Dimes Prematurity Research Center Ohio Collaborative, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America.; Burroughs Wellcome Fund, Research Triangle Park, Durham, North Carolina, United States of America., Rämet M; Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu, and Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland.; Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland., Hallman M; Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu, and Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland.

Publikováno v: PLoS genetics [PLoS Genet] 2023 Oct 23; Vol. 19 (10), pp. e1010982. Date of Electronic Publication: 2023 Oct 23 (Print Publication: 2023).

Cytosolic phosphoenolpyruvate carboxykinase deficiency:expanding the clinical phenotype and novel laboratory findings

Autor: Vieira, P. (Päivi), Nagy, I. I. (Irina I.), Rahikkala, E. (Elisa), Väisänen, M.-L. (Marja-Leena), Latva, K. (Katariina), Kaunisto, K. (Kari), Valmari, P. (Pekka), Keski-Filppula, R. (Riikka), Haanpää, M. K. (Maria K.), Virpi Sidoroff, V. (Virpi), Miettinen, P. J. (Päivi J.), Arkkola, T. (Tuula), Ojaniemi, M. (Marja), Nuutinen, M. (Matti), Uusimaa, J. (Johanna), Myllynen, P. (Päivi)

Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency due to the homozygous PCK1 variant has recently been associated with childhood-onset hypoglycemia with a recognizable pattern of abnormal urine organic acids. In this study, 21 children

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2423::0855a8cc68be4c9a469fb822cc1a40d0
http://urn.fi/urn:nbn:fi-fe2021113057914