Aim: This study aimed to assess the cognitive development of individuals with congenital hypothyroidism.
Methods: Using hospital records, we identified 180 patients with congenital hypothyroidism born between 1980 and 2018 in Turku and Kuopio University Hospital catchment areas. Cognitive development was evaluated in 22 adults (7 males and 15 females) and 20 children (8 males and 12 females) using age-specific Wechsler Intelligence Scales.
The high prevalence of autoimmune hypothyroidism (AIHT) - more than 5% in human populations - provides a unique opportunity to unlock the most complete picture to date of genetic loci that underlie systemic and organ-specific autoimmunity. Using a meta-analysis of 81,718 AIHT cases in FinnGen and the UK Biobank, we dissect associations along axes of thyroid dysfunction and autoimmunity. This largest-to-date scan of hypothyroidism identifies 418 independent associations (p < 5×10), more than half of which have not previously been documented in thyroid disease.
View Article and Find Full Text PDFSpectroscopy of correlated electron pairs was employed to investigate the energy dissipation process, as well as the transport and the emission of low-energy electrons on a polymethylmethacrylate surface, providing secondary electron spectra causally related to the energy loss of the primary. Two groups are identified in the cascade of slow electrons, corresponding to different stages in the energy dissipation process. The characteristic lengths for attenuation due to collective excitations and momentum relaxation are quantified for both groups and are found to be distinctly different: λ_{1}=(12±2) Å and λ_{2}=(62±11) Å.
View Article and Find Full Text PDFBackground: To strengthen palliative care for children in the Nordic countries, an updated status of current needs, resources, clinical services, education, and research is necessary to align and consolidate future research. A Nordic research collaboration initiative for children with palliative care needs was assembled in 2023. Building on this initiative, this paper presents an overview of pediatric palliative care (PPC) in the Nordic countries' (a) population characteristics, (b) care models and setting of care, (c) education and training, and (d) research.
View Article and Find Full Text PDFBackground: Dyspnoea, a commonly reported symptom among patients with cancer, necessitates the need for appropriate non-pharmacological interventions for its management and suitable assessment scales.
Aims: To explore the nursing interventions and assessment scales for managing dyspnoea in patients with cancer receiving palliative care.
Methods: Systematic review.
Aim: To explore nurses' perceptions to alleviate dyspnoea in inpatients with advanced cancer while receiving palliative care.
Design: A descriptive qualitative design.
Methods: Seven focus groups were conducted with nurses (n = 27) from five specialized palliative care wards in four hospitals in south and southwest Finland.
The clinical spectrum of thyrotropin receptor-mediated (TSHR-mediated) diseases varies from loss-of-function mutations causing congenital hypothyroidism to constitutively active mutations (CAMs) leading to nonautoimmune hyperthyroidism (NAH). Variation at the TSHR locus has also been associated with altered lipid and bone metabolism and autoimmune thyroid diseases. However, the extrathyroidal roles of TSHR and the mechanisms underlying phenotypic variability among TSHR-mediated diseases remain unclear.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
November 2023
Context: Patients with congenital hypothyroidism (CH) are affected more often than the general population by other chronic diseases and neurological difficulties.
Objective: The aim of this nationwide population-based register study was to investigate the incidence of congenital malformations, comorbidities, and the use of prescribed drugs in patients with primary CH.
Methods: The study cohort and matched controls were identified from national population-based registers in Finland.
Introduction: Newborn screening of congenital hypothyroidism (CH) has enabled early treatment with levothyroxine (LT4), ensuring normal growth and development. The initial LT4 dose recommendation has increased over decades. We evaluated whether the increased LT4 dosing influenced thyroid-stimulating hormone (TSH) and thyroxine (fT4) concentrations, growth, or treatment-related symptoms.
View Article and Find Full Text PDFBackground: A rise in the incidence of congenital hypothyroidism (CH) has been reported worldwide. This nationwide study aimed to describe the secular trends and current incidence of CH in Finland.
Methods: Two independent study cohorts, a national and a regional, were collected from national registers and patient records.
Diabetes Technol Ther
September 2022
New methods are pivotal in accurately predicting, monitoring, and diagnosing the clinical manifestation of type 1 diabetes (T1D) in high-risk children. Continuous glucose monitoring (CGM) is a valuable tool for patients with T1D, but there is still a knowledge gap regarding its utility in the prediction of diabetes. The current study explored whether 10-day CGM or CGM during an oral glucose tolerance test (OGTT) performed in the laboratory or at home (home-OGTT) could be accurate in detecting stages of T1D.
View Article and Find Full Text PDFTo deliver quality care, social and healthcare professionals should be competent both in their own professional work and interprofessionally. The aim of this integrative review was to describe interprofessional teamwork and the required competencies for teamwork in specialized palliative care. Totally 14 studies published between 2003 and 2020 were included in the review.
View Article and Find Full Text PDFThe human adrenal cortex undergoes several rapid remodeling steps during its lifetime. In rodents, similar remodeling occurs postnatally in the "X-zone" layer through unknown mechanisms. Furthermore, little is known regarding the impact of thyroid hormone (TH) on adrenal glands in humans.
View Article and Find Full Text PDFBackground: Individuals with multiple islet autoantibodies are at increased risk for clinical type 1 diabetes and may proceed gradually from stage to stage complicating the recruitment to secondary prevention studies. We evaluated multiple islet autoantibody positive subjects before randomisation for a clinical trial 1 month apart for beta-cell function, glucose metabolism and continuous glucose monitoring (CGM). We hypothesized that the number and type of islet autoantibodies in combination with different measures of glucose metabolism including fasting glucose, HbA1c, oral glucose tolerance test (OGTT), intra venous glucose tolerance test (IvGTT) and CGM allows for more precise staging of autoimmune type 1 diabetes than the number of islet autoantibodies alone.
View Article and Find Full Text PDFPurpose: Obtaining vascular access in the pediatric population can be challenging, with insertion success rates varying widely based on patient and practitioner associated factors. Difficulty establishing peripheral intravenous access can delay treatment, which can be detrimental in emergent situations. Nurses who are trained in vascular access yield a much higher first attempt success rate, which decreases resource utilization, time to intervention, and complication rate.
View Article and Find Full Text PDFCancer cells hijack developmental growth mechanisms but whether tissue morphogenesis and architecture modify tumorigenesis is unknown. Here, we characterized a new mouse model of sporadic thyroid carcinogenesis based on inducible expression of BRAF carrying a Val600 Glu (V600E) point mutation (BRAFV600E) from the thyroglobulin promoter (TgCreERT2). Spontaneous activation of this Braf-mutant allele due to leaky activity of the Cre recombinase revealed that intrinsic properties of thyroid follicles determined BRAF-mutant cell fate.
View Article and Find Full Text PDFAim: The aim of the present study was to assess beta cell function based on an oral glucose tolerance test (OGTT) in participants with single islet autoantibody or an intravenous glucose tolerance test (IvGTT) in participants with multiple islet autoantibodies.
Materials And Methods: Healthy participants in Sweden and Finland, between 2 and 49.99 years of age previously identified as positive for a single (n = 30) autoantibody to either insulin, glutamic acid decarboxylase, islet antigen-2, zinc transporter 8 or islet cell antibodies or multiple autoantibodies (n = 46), were included.
The primary cilium is well-preserved in human differentiated thyroid cancers such as papillary and follicular carcinoma. Specific thyroid cancers such as Hürthle cell carcinoma, oncocytic variant of papillary thyroid carcinoma (PTC), and PTC with Hashimoto's thyroiditis show reduced biogenesis of primary cilia; these cancers are often associated the abnormalities in mitochondrial function. Here, we examined the association between primary cilia and the mitochondria-dependent apoptosis pathway.
View Article and Find Full Text PDFRadioiodine refractory dedifferentiated thyroid cancer is a major clinical challenge. Anaplastic lymphoma kinase (ALK) mutations with increased ALK activity, especially fusion genes, have been suggested to promote thyroid carcinogenesis, leading to development of poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma. To determine the oncogenic potential of increased ALK activity in thyroid carcinogenesis , we studied mice with thyrocyte-specific expression of a constitutively active ALK mutant.
View Article and Find Full Text PDFMechanical activation of granulated copper slag (GCS) is carried out in the present study for the purposes of enhancing pozzolanic activity for the GCS. A vibration mill mills the GCS for 1, 2, and 3 h to produce samples with specific surface area of 0.67, 1.
View Article and Find Full Text PDFCommunications at the interface between the apical membrane of follicular cells and the follicular lumen are critical for the homeostasis of thyroid gland. Primary cilia at the apical membrane of thyroid follicular cells may sense follicular luminal environment and regulate follicular homeostasis, although their role remains to be determined. Here, mice devoid of primary cilia were generated by thyroid follicular epithelial cell-specific deletion of the gene encoding intraflagellar transport protein 88 ( ).
View Article and Find Full Text PDFDefects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that goitrous hypothyroidism also occurs in Slc26a7-null mice. In both species, the gene is expressed predominantly in the thyroid gland, and loss of function is associated with impaired availability of iodine for thyroid hormone synthesis, partially corrected in mice by iodine supplementation.
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