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275 results on '"Raivio, T."'

3. Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

Author

Nordenström, A, primary, Ahmed, S F, additional, van den Akker, E, additional, Blair, J, additional, Bonomi, M, additional, Brachet, C, additional, Broersen, L H A, additional, Claahsen-van der Grinten, H L, additional, Dessens, A B, additional, Gawlik, A, additional, Gravholt, C H, additional, Juul, A, additional, Krausz, C, additional, Raivio, T, additional, Smyth, A, additional, Touraine, P, additional, Vitali, D, additional, and Dekkers, O M, additional

Published
2022
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4. Human pluripotent stem cell-derived cells endogenously expressing follicle-stimulating hormone receptors: modeling the function of an inactivating receptor mutation

Author

Lundin, K, primary, Sepponen, K, additional, Väyrynen, P, additional, Liu, X, additional, Yohannes, D A, additional, Survila, M, additional, Ghimire, B, additional, Känsäkoski, J, additional, Katayama, S, additional, Partanen, J, additional, Vuoristo, S, additional, Paloviita, P, additional, Rahman, N, additional, Raivio, T, additional, Luiro, K, additional, Huhtaniemi, I, additional, Varjosalo, M, additional, Tuuri, T, additional, and Tapanainen, J S, additional

Published
2022
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5. Human pluripotent stem cell-derived cells endogenously expressing follicle-stimulating hormone receptors:modeling the function of an inactivating receptor mutation

Author

Lundin, K. (K.), Sepponen, K. (K.), Väyrynen, P. (P.), Liu, X. (X.), Yohannes, D. A. (D. A.), Survila, M. (M.), Ghimire, B. (B.), Känsäkoski, J. (J.), Katayama, S. (S.), Partanen, J. (J.), Vuoristo, S. (S.), Paloviita, P. (P.), Rahman, N. (N.), Raivio, T. (T.), Luiro, K. (K.), Huhtaniemi, I. (I.), Varjosalo, M. (M.), Tuuri, T. (T.), and Tapanainen, J. S. (J. S.)

Subjects
receptor mutation, G-protein coupled receptor function, pluripotent stem cell, infertility, FSH action
Abstract

Follicle-stimulating hormone (FSH) is crucial in the development and regulation of reproductive functions. The actions of human FSH and its receptor (FSHR) and mutations therein have mainly been studied using in vivo models, primary cells, cancer cells and cell lines ectopically expressing the FSHR. To allow studies of endogenous FSHR function in vitro, we differentiated FSHR-expressing cells from human pluripotent stem cells. FSH stimulation of the wild-type (WT), but not the inactivating Finnish founder mutant (A189V) receptor, activated the canonical cyclic adenosine monophosphate (cAMP)-dependent signaling pathway and downstream mediators. To investigate protein–protein interaction partners of FSHR at resting state and upon FSH stimulation, we expressed FSHR in HEK293 cells followed by affinity purification mass spectrometry analyses. We found 19 specific high-confidence interacting proteins for WT FSHR and 14 for A189V FSHR, several of which have been linked to infertility. Interestingly, while only WT FSHR interacted with FSH, insulin-like growth factor 1 receptor (IGF1R), for example, interacted with both WT and A189V FSHR upon FSH stimulation. In conclusion, our protocol allows detailed studies of FSH action and disease modeling in human cells endogenously expressing FSHR.

Published
2022

9. Androgen deprivation and SARS-CoV-2 in men with prostate cancer

Author

Koskinen, M., Carpen, O., Honkanen, V., Seppänen, M. R. J., Miettinen, P. J., Tuominen, J. A., Raivio, T., HUSLAB, Medicum, Bio Bank, Helsinki University Hospital Area, Faculty of Medicine, University of Helsinki, Precision Cancer Pathology, Department of Pathology, Olli Mikael Carpen / Principal Investigator, HUS Children and Adolescents, Children's Hospital, Clinicum, Department of Medicine, Centre of Excellence in Stem Cell Metabolism, Timo Pyry Juhani Otonkoski / Principal Investigator, Department of Physiology, and Research Programs Unit

Subjects
3121 General medicine, internal medicine and other clinical medicine, education, 3122 Cancers
Abstract

Non

Published
2020

10. Aromatase inhibitors in puberty

Author

Hero, M., Varimo, T., Raivio, T., Clinicum, HUS Children and Adolescents, Raivio Group, Children's Hospital, Department of Physiology, and STEMM - Stem Cells and Metabolism Research Program

Subjects
3123 Gynaecology and paediatrics, 3111 Biomedicine
Abstract

Export Date: 12 March 2021 Correspondence Address: Raivio, T.; Helsinki University Hospital, Finland; email: taneli.raivio@helsinki.fi

Published
2020

11. Neuron-derived neurotrophic factor (NDNF) is mutated in patients with Congenital Hypogonadotropic Hypogonadism

Author

Messina, A., Pulli, K., Santini, S., Acierno, J., Känsäkoski, J., Cassatella, D., Xu, C., Casoni, F., Malone, S. A., Ternier, G., Conte, D., Sidis, Y., Tommiska, J., Vaaralahti, K., Dwyer, A., Gothilf, Y., Merlo, G. R., Santoni, F., Niederländer, N. J., Giacobini, P., Raivio, T., and Pitteloud, N

Subjects
Gonadotropin Kallmann Disease GnRH Animal Model of Disease Neurotrophic Factor
Published
2020

19. Clinical Management of Congenital Hypogonadotropic Hypogonadism

Author

Young, J., Xu, C., Papadakis, G.E., Acierno, J.S., Maione, L., Hietamäki, J., Raivio, T., Pitteloud, N., HUS Children and Adolescents, Raivio Group, Children's Hospital, Research Programs Unit, and STEMM - Stem Cells and Metabolism Research Program

Subjects
GONADOTROPIN-RELEASING-HORMONE, RECOMBINANT HUMAN FSH, HUMAN CHORIONIC-GONADOTROPIN, QUALITY-OF-LIFE, 3123 Gynaecology and paediatrics, Adolescent, Adult, Female, Gonadotropin-Releasing Hormone/administration & dosage, Gonadotropin-Releasing Hormone/deficiency, Gonadotropin-Releasing Hormone/metabolism, Gonadotropins/administration & dosage, Humans, Hypogonadism/congenital, Hypogonadism/diagnosis, Hypogonadism/drug therapy, Hypogonadism/metabolism, Infant, Infant, Newborn, Male, ANTI-MULLERIAN HORMONE, 3121 General medicine, internal medicine and other clinical medicine, HUMAN MENOPAUSAL GONADOTROPIN, FUNCTIONAL HYPOTHALAMIC AMENORRHEA, BONE-MINERAL DENSITY, FOLLICLE-STIMULATING-HORMONE, TESTOSTERONE REPLACEMENT THERAPY
Abstract

The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results from the failure of the normal episodic GnRH secretion, leading to delayed puberty and infertility. CHH can be associated with an absent sense of smell, also termed Kallmann syndrome, or with other anomalies. CHH is characterized by rich genetic heterogeneity, with mutations in >30 genes identified to date acting either alone or in combination. CHH can be challenging to diagnose, particularly in early adolescence where the clinical picture mirrors that of constitutional delay of growth and puberty. Timely diagnosis and treatment will induce puberty, leading to improved sexual, bone, metabolic, and psychological health. In most cases, patients require lifelong treatment, yet a notable portion of male patients (approximate to 10% to 20%) exhibit a spontaneous recovery of their reproductive function. Finally, fertility can be induced with pulsatile GnRH treatment or gonadotropin regimens in most patients. In summary, this review is a comprehensive synthesis of the current literature available regarding the diagnosis, patient management, and genetic foundations of CHH relative to normal reproductive development.

Published
2019

25. Hereditary myopathy with early respiratory failure: occurrence in various populations

Author

Palmio, J., primary, Evila, A., additional, Chapon, F., additional, Tasca, G., additional, Xiang, F., additional, Bradvik, B., additional, Eymard, B., additional, Echaniz-Laguna, A., additional, Laporte, J., additional, Karppa, M., additional, Mahjneh, I., additional, Quinlivan, R., additional, Laforet, P., additional, Damian, M., additional, Berardo, A., additional, Taratuto, A. L., additional, Bueri, J. A., additional, Tommiska, J., additional, Raivio, T., additional, Tuerk, M., additional, Golitz, P., additional, Chevessier, F., additional, Sewry, C., additional, Norwood, F., additional, Hedberg, C., additional, Schroder, R., additional, Edstrom, L., additional, Oldfors, A., additional, Hackman, P., additional, and Udd, B., additional

Published
2013
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47. Reversal of idiopathic hypogonadotropic hypogonadism.

Author

Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF Jr., Pitteloud N, Raivio, Taneli, Falardeau, John, Dwyer, Andrew, Quinton, Richard, Hayes, Frances J, Hughes, Virginia A, Cole, Lindsay W, and Pearce, Simon H

Abstract

Background: Idiopathic hypogonadotropic hypogonadism, which may be associated with anosmia (the Kallmann syndrome) or with a normal sense of smell, is a treatable form of male infertility caused by a congenital defect in the secretion or action of gonadotropin-releasing hormone (GnRH). Patients have absent or incomplete sexual maturation by the age of 18. Idiopathic hypogonadotropic hypogonadism was previously thought to require lifelong therapy. We describe 15 men in whom reversal of idiopathic hypogonadotropic hypogonadism was sustained after discontinuation of hormonal therapy.Methods: We defined the sustained reversal of idiopathic hypogonadotropic hypogonadism as the presence of normal adult testosterone levels after hormonal therapy was discontinued.Results: Ten sustained reversals were identified retrospectively. Five sustained reversals were identified prospectively among 50 men with idiopathic hypogonadotropic hypogonadism after a mean (+/-SD) duration of treatment interruption of 6+/-3 weeks. Of the 15 men who had a sustained reversal, 4 had anosmia. At initial evaluation, 6 men had absent puberty, 9 had partial puberty, and all had abnormal secretion of GnRH-induced luteinizing hormone. All 15 men had received previous hormonal therapy to induce virilization, fertility, or both. Among those whose hypogonadism was reversed, the mean serum level of endogenous testosterone increased from 55+/-29 ng per deciliter (1.9+/-1.0 nmol per liter) to 386+/-91 ng per deciliter (13.4+/-3.2 nmol per liter, P<0.001), the luteinizing hormone level increased from 2.7+/-2.0 to 8.5+/-4.6 IU per liter (P<0.001), the level of follicle-stimulating hormone increased from 2.5+/-1.7 to 9.5+/-12.2 IU per liter (P<0.01), and testicular volume increased from 8+/-5 to 16+/-7 ml (P<0.001). Pulsatile luteinizing hormone secretion and spermatogenesis were documented.Conclusions: Sustained reversal of normosmic idiopathic hypogonadotropic hypogonadism and the Kallmann syndrome was noted after discontinuation of treatment in about 10% of patients with either absent or partial puberty. Therefore, brief discontinuation of hormonal therapy to assess reversibility of hypogonadotropic hypogonadism is reasonable. (ClinicalTrials.gov number, NCT00392756 [ClinicalTrials.gov].). [ABSTRACT FROM AUTHOR]

Published
2007

48. Mutations That Impact the Enteropathogenic Escherichia coliCpx Envelope Stress Response Attenuate Virulence in Galleria mellonella

Author

Leuko, S. and Raivio, T. L.

Abstract

ABSTRACTIn this paper, we show that the larvae of the greater wax moth, Galleria mellonella, can be used as a model to study enteropathogenic Escherichia coli(EPEC) virulence. G. mellonellalarvae are killed after infection with EPEC type strain E2348/69 but not by an attenuated derivative that expresses diminished levels of the major virulence determinants or by a mutant specifically defective in type III secretion (T3S). Infecting EPEC inhabit the larval hemocoel only briefly and then become localized to melanized capsules, where they remain extracellular. Previously, it was shown that mutations affecting the Cpx envelope stress response lead to diminished expression of the bundle-forming pilus (BFP) and the type III secretion system (T3SS). We demonstrate that mutations that activate the Cpx pathway have a dramatic effect on the ability of the bacterium to establish a lethal infection, and this is correlated with an inability to grow in vivo. Infection with all E. colistrains led to increased expression of the antimicrobial peptides (AMPs) gloverin and cecropin, although strain- and AMP-specific differences were observed, suggesting that the G. mellonellahost perceives attenuated strains and Cpx mutants in unique manners. Overall, this study shows that G. mellonellais an economical, alternative infection model for the preliminary study of EPEC host-pathogen interactions, and that induction of the Cpx envelope stress response leads to defects in virulence.

Published
2012
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50. Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

Author

Villanueva C, Jacobson-Dickman E, Xu C, ManouvrierS, DwyerA, Sykiotis GP, Beenken A, Liu Y, Tommiska J, Hu Y, Tiosano D, Gerard M, Leger J, Drouin-Garraud V, Lefebvre H, Polak M, Carel J, Phan-Hug F, Hauschild M, Raivio T, Bouloux P, Sidis Y, Mohammadi M, de Roux N, and Pitteloud N

Abstract

Purpose:Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising the two.Methods:We identified patients with CHH and SHFM through international collaboration. Probands and available family members underwent phenotyping and screening for FGFR1 mutations. The impact of identified mutations was assessed by sequence and structure based predictions and/or functional assays.Results:We identified eight probands with CHH with (n = 3; Kallmann syndrome) or without anosmia (n = 5) and SHFM seven of whom (88) harbor FGFR1 mutations. Of these seven one individual is homozygous for p.V429E and six individuals are heterozygous for p.G348R p.G485R p.Q594 p.E670A p.V688L or p.L712P. All mutations were predicted by in silico analysis to cause loss of function. Probands with FGFR1 mutations have severe gonadotropin releasing hormone deficiency (absent puberty and/or cryptorchidism and/or micropenis). SHFM in both hands and feet was observed only in the patient with the homozygous p.V429E mutation; V429 maps to the fibroblast growth factor receptor substrate 2a binding domain of FGFR1 and functional studies of the p.V429E mutation demonstrated that it decreased recruitment and phosphorylation of fibroblast growth factor receptor substrate 2a to FGFR1 thereby resulting in reduced mitogen activated protein kinase signaling.Conclusion:FGFR1 should be prioritized for genetic testing in patients with CHH and SHFM because the likelihood of a mutation increases from 10 in the general CHH population to 88 in these patients.Genet Med advance online publication 13 November 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.166.

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