A5079514127- Metabolism and Genetic Disorders
- Gout, Hyperuricemia, Uric Acid
- Folate and B Vitamins Research
- Sulfur Compounds in Biology
- Mitochondrial Function and Pathology
- Neonatal Health and Biochemistry
- Diet and metabolism studies
- Nitric Oxide and Endothelin Effects
- Neonatal Respiratory Health Research
- Cancer, Hypoxia, and Metabolism
- Heme Oxygenase-1 and Carbon Monoxide
- Nerve injury and regeneration
- Viral Infections and Immunology Research
- X-ray Spectroscopy and Fluorescence Analysis
- Diabetes and associated disorders
- Alcohol Consumption and Health Effects
- Research in Social Sciences
- Renin-Angiotensin System Studies
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Biomedical Research and Pathophysiology
- HIV Research and Treatment
- Mobile Health and mHealth Applications
- Hormonal Regulation and Hypertension
- Connexins and lens biology
- Childhood Cancer Survivors' Quality of Life
Helsinki University Hospital
2015-2024
University of Helsinki
2012-2024
Helsinki Children's Hospital
1998-2023
European Academy of Technology and Innovation Assessment
2022-2023
Society for Endocrinology
2023
European Society for Paediatric Oncology
2023
Japan Society
2023
University Medical Center Groningen
2021
Inserm
2021
Université de Tours
2021
The G protein-coupled receptor Gpr54 and its ligand metastin (derived from the Kiss1 gene product kisspeptin) are key gatekeepers of sexual maturation. knockout mice demonstrate hypogonadotropic hypogonadism, but until recently, phenotype was unknown. This report describes reproductive phenotypes carrying targeted deletions or on same genetic background. Both viable infertile have abnormal maturation; majority males lack preputial separation, females delayed vaginal opening absence estrous...
Abstract Objective Maternal inflammation/infection alone or in combination with birth asphyxia increases the risk for perinatal brain injury. Free radicals are implicated as major mediators of inflammation and hypoxia‐ischemia (HI)–induced This study evaluated neuroprotective efficacy a scavenging agent, N ‐acetylcysteine (NAC), clinically relevant model. Methods Lipopolysaccharide (LPS)‐sensitized HI injury was induced 8‐day‐old neonatal rats. NAC administered multiple doses, at 7 days...
Population-based studies on infantile epilepsy syndromes are scarce. Our aim was to provide syndrome-specific data the incidence and outcome of in a population-based cohort infants with onset first year.Included were all born 1997 through 2006 whose epileptic seizures started before 12 months age who residents Helsinki University Hospital district at time seizure onset. Patients ascertained from hospital statistics, patient charts reviewed. A reevaluation syndromes, onset, etiology, 24 based...
We have identified patients in whom strenuous physical exercise leads to hypoglycemia caused by inappropriate insulin release (exercise-induced hyperinsulinism [EIHI]). The aim of the present study was test hypothesis that increased levels lactate and/or pyruvate during anaerobic would trigger aberrant secretion these patients. A total 12 (8 women and 4 men from two families) were diagnosed with EIHI, based on a more than threefold increase plasma induced 10-min bicycle test. mode...
Argininosuccinate lyase deficiency (ASLD) is a recessive metabolic disorder caused by variants in ASL. In an essential step urea synthesis, ASL breaks down argininosuccinate (ASA), pathognomonic ASLD biomarker. The severe disease forms lead to hyperammonemia, neurological injury, and even early death. current treatments are unsatisfactory, involving strict low-protein diet, arginine supplementation, nitrogen scavenging, some cases, liver transplantation. An unmet need exists for improved,...
We examined whether xanthine oxidoreductase (XOR), a hypoxia-inducible enzyme capable of generating reactive oxygen species, is involved in the onset angiotensin (Ang) II–induced vascular dysfunction double-transgenic rats (dTGR) harboring human renin and angiotensinogen genes. In 7-week-old hypertensive dTGR, endothelium-mediated relaxation noradrenaline (NA)-precontracted renal arterial rings to acetylcholine (ACh) vitro was markedly impaired compared with Sprague Dawley rats....
KISS1 is a candidate gene for GnRH deficiency.Our objective was to identify deleterious mutations in KISS1.DNA sequencing and assessment of the effects rare sequence variants (RSV) were conducted 1025 probands with GnRH-deficient conditions.Fifteen harbored 10 heterozygous RSV seen less than 1% control subjects. Of that reside within mature kisspeptin peptide, p.F117L (but not p.S77I, p.Q82K, p.H90D, or p.P110T) reduces inositol phosphate generation. lie coding region but outside p.G35S...
Cystathionine gamma-lyase (CGL) is the last enzyme of trans-sulphuration pathway, which converts methionine into cysteine. To study possible differences in enzymic activity two human cystathionine isoforms characterized earlier, these were separately expressed kidney embryonic 293T cells. Furthermore, developmental changes expression mRNA forms as well liver studied, it has been postulated that a change relative CGL causes postnatal increase activity. Transfection with longer isoform...
Nerve growth factor (NGF), which has a tertiary structure based on cluster of 3 cystine disulfides and 2 very extended, but distorted beta-hairpins, is the prototype larger family neurotrophins. Prior to availability cloning techniques, mouse submandibular gland was richest source NGF provided sufficient material enable its biochemical characterization. It binds as dimer at least cell-surface receptor types expressed in variety neuronal non-neuronal cells. Residues involved these...
Abstract —Clinical and experimental studies have established an association between high sodium intake arterial hypertension. The renal mechanisms resulting in impaired excretion hypertension-prone subjects are not clear. In rats, blood pressure results increased mass hemodynamic changes, both of which may alter oxygen distribution. Xanthine oxidoreductase (XOR) oxidizes ATP metabolites hypoxanthine xanthine to urate. Because XOR is induced by hypoxia, we assessed kidney activity 2 models...
Hyperuricaemia and reactive oxygen species have recently been associated with essential hypertension. Xanthine oxidoreductase (XOR) produces urate and, in its oxidase isoform, also. Our previous studies indicated that hypertension-prone rat strains greater renal XOR activity than their normotensive counterparts, dietary sodium modifies activity.To clarify whether induction precedes or follows the development of hypertension.Five-week-old spontaneously hypertensive rats (SHRs) Wistar-Kyoto...
Abstract Aim: Currently, the only metabolic disorder that newborns are screened for in Finland is congenital hypothyroidism. A proposal to start a pilot study on screening other rare diseases using tandem mass spectrometry prompted health technology assessment project effect and costs of expanded newborn programme options. Method: modelling data from current published studies, healthcare registers expert opinion. Results: The annual running cost 56 000 chosen five disorders (congenital...
Abstract Background Transaldolase deficiency (TALDO‐D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has no comprehensive overview phenotype, genotype, and phenotype–genotype correlation. Methods We performed retrospective questionnaire literature study clinical, biochemical, molecular data 34 patients from 25 families with proven TALDO‐D. In some patients, endocrine...