A de novo PRPF8 Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure.

Introduction: Childhood hypophosphatemia is a rare condition and may be caused by malabsorption, malignancies, or genetic factors. Prolonged hypophosphatemia leads to impaired growth and radiographic signs of rickets.

Methods: We performed a detailed clinical and genetic evaluation of an adolescent boy with repeatedly low plasma phosphate concentrations (below 0.

Endogenous AhR agonist FICZ accumulates in rainbow trout (Oncorhynchus mykiss) alevins exposed to a mixture of two PAHs, retene and fluoranthene.

Multiple studies have reported synergized toxicity of PAH mixtures in developing fish larvae relative to the additive effect of the components. From a toxicological perspective, multiple mechanisms are known to contribute to synergism, such as altered toxicodynamics and kinetics, as well as increased oxidative stress. An understudied contributor to synergism is the accumulation of endogenous metabolites, for example: the aryl hydrocarbon receptor 2 (AhR2) agonist and tryptophan metabolite 6-Formylindolo(3,2-b)carbazole (FICZ).

Vanadium aminophenolates in catechol oxidation: conformity with Finke's common catalyst hypothesis.

Six known aminophenolate vanadium complexes V1-V6 were examined in 3,5-di-tert-butylcatechol (1, 3,5-DTBC) oxidation. From the complexes V1-V5 have been previously shown to demonstrate catechol oxidase (catecholase) like behavior, catalytically oxidizing 1 to 3,5-di-tert-butyl-1,2-benzoquinone (2, 3,5-DTBQ). A critical re-evaluation of V1-V5, including V6 not assessed earlier, in the aerobic oxidation of 1 has revealed that several catechol dioxygenase products are obtained in addition to 2, which is produced partly by autoxidation.

Bone structure assessed with pQCT in prepubertal males with delayed puberty or congenital hypogonadotropic hypogonadism.

Objective: Congenital hypogonadotropic hypogonadism (CHH) is associated with impaired bone mineral density in adulthood, whereas the estimates on bone structure in adolescents with CHH has not been previously evaluated. This study describes bone structure in CHH patients and compares it to that in boys with constitutional delay of growth and puberty (CDGP).

Design: A cross-sectional study.

Decreasing trend in the incidence of serious pneumonias in Finnish children with juvenile idiopathic arthritis.

Objectives: Children with juvenile idiopathic arthritis (JIA) may be predisposed to serious pneumonia due to modern disease-modifying anti-rheumatic treatment. In this nationwide retrospective study with clinical data, we describe the pneumonia episodes among children with JIA.

Methods: Patients under 18 years of age with JIA and pneumonia during 1998-2014 were identified in the National Hospital Discharge Register in Finland.

Pneumonia in children with juvenile idiopathic arthritis in Finland 1999-2014: a nationwide retrospective register linkage study.

Objectives: To compare the incidence of pneumonia in children with juvenile idiopathic arthritis (JIA) to the aged-matched general population and to evaluate the use of anti-rheumatic medication among children with JIA and pneumonia.

Methods: The National Hospital Discharge Register collects data on ICD-diagnoses of hospital patients in Finland. From this register, patients with JIA under 18 years of age with pneumonia from 1999 through 2014 were identified.

Biliary Anomalies in Patients With HNF1B Diabetes.

Context: The clinical spectrum of organogenetic anomalies associated with HNF1B mutations is heterogeneous. Besides cystic kidney disease, diabetes, and various other manifestations, odd cases of mainly neonatal and posttransplantation cholestasis have been described. The biliary phenotype is incompletely defined.

Plasma amino-terminal pro B-type natriuretic peptide as a predictor of late cardiovascular mortality in patients with acute lung disorders: a prospective, observational cohort study.

Aims: Pneumonia and acute exacerbations of obstructive lung diseases (AEOLD) are associated with a significant long-term mortality. Elevated level of amino-terminal pro B-type natriuretic peptide (NT-proBNP) is a predictor of late all-cause mortality in these disorders but the pathophysiological basis for this is unknown. The present study was conducted to define the predictive role of NT-proBNP on late cardiovascular mortality among patients with acute lung disorders.

A history of diabetes but not hyperglycaemia during exacerbation of obstructive lung disease has impact on long-term mortality: a prospective, observational cohort study.

Objective: Hyperglycaemia is very common during exacerbations of asthma and chronic obstructive pulmonary disease (COPD). However, its clinical significance is not clear. The objective of the present study was to assess whether exacerbation-associated hyperglycaemia affects long-term mortality in these patients.

Bloodstream infections among children with juvenile idiopathic arthritis: a prospective study from the onset of disease.

Objectives: To describe the incidence and nature of bloodstream infections (BSI) among children with juvenile idiopathic arthritis (JIA) followed-up prospectively from disease onset.

Methods: The Social Insurance Institution's (SII) national register on individuals with reimbursement for medication of chronic diseases was used to identify children with JIA from 2004 through 2011 and their medications. The National Infectious Disease Register (NIDR) collects data of all blood culture positive samples from all microbiology laboratories in Finland.

Long-term mortality after community-acquired pneumonia--impacts of diabetes and newly discovered hyperglycaemia: a prospective, observational cohort study.

Objectives: Community-acquired pneumonia is associated with a significant long-term mortality after initial recovery. It has been acknowledged that additional research is urgently needed to examine the contributors to this long-term mortality. The objective of the present study was to assess whether diabetes or newly discovered hyperglycaemia during pneumonia affects long-term mortality.

rClca2 is associated with epidermal differentiation and is strongly downregulated by ultraviolet radiation.

Background: Excessive skin exposure to solar radiation damages proteins and DNA, ultimately leading to skin ageing and cancers.

Objectives: To identify new ultraviolet B (UVB) target genes to understand the mechanisms behind the detrimental effects of UVB.

Methods: Organotypic, stratified cultures of rat keratinocytes were exposed to UVB and analysed using a genome-wide expression array, quantitative real-time polymerase chain reaction and histology.

The quality of life and social support in significant others of patients with breast cancer--a longitudinal study.

The purpose of this study was to evaluate prospectively the quality of life (QOL) and received social support from the network and nurses in significant others of breast cancer patients and identify factors predicting negative changes in their QOL within 6 months. The quasi-random longitudinal study conducted for the breast cancer patients and their significant others. Patients were quasi-randomised to supportive intervention group (via telephone at baseline and face-to-face at follow-up) and control group.

Hyperglycaemia during exacerbations of asthma and chronic obstructive pulmonary disease.

Introduction: Hyperglycaemia is a well-known phenomenon among patients with an exacerbation of asthma or chronic obstructive pulmonary disease (COPD). It may be associated with increased risks of death and complications.

Objectives: To define the prevalence and determinants of hyperglycaemia in patients with an exacerbation of asthma or COPD.

Low dose ultraviolet B irradiation increases hyaluronan synthesis in epidermal keratinocytes via sequential induction of hyaluronan synthases Has1-3 mediated by p38 and Ca2+/calmodulin-dependent protein kinase II (CaMKII) signaling.

Hyaluronan, a major epidermal extracellular matrix component, responds strongly to different kinds of injuries. This also occurs by UV radiation, but the mechanisms involved are poorly understood. The effects of a single ultraviolet B (UVB) exposure on hyaluronan content and molecular mass, and expression of genes involved in hyaluronan metabolism were defined in monolayer and differentiated, organotypic three-dimensional cultures of rat epidermal keratinocytes.

Prevalence and determinants of hyperglycaemia in pneumonia patients.

Background: Hyperglycaemia during pneumonia prolongs the hospitalization and increases the risks of complications and death. However, its prevalence and determinants have not been systematically assessed.

Methods: This was a prospective, cross-sectional study.

Effect of social support on changes in quality of life in early breast cancer patients: a longitudinal study.

Background: Breast cancer diagnosis as well as diversity of the treatment process deteriorates women's quality of life (QOL). Researchers have examined social support and its relations with QOL overall, but less is known about effects of social support on changes in QOL.

Aims: The aim of this study was to examine social support received from social network and nurses within 6 months and QOL in women with breast cancer.

Individual face-to-face support and quality of life in patients with breast cancer.

Living with breast cancer significantly affects women's quality of life (QOL) creating a need for support that might persist throughout the breast cancer experience. The aim of this study was to assess the effect of individual face-to-face support on women's QOL and identify factors associated with their QOL. A two-group quasi-experimental design was used with a sample of 204 women who was assigned to the intervention (n = 112) or the control group (n = 92) in hospital after breast cancer surgery.

Changes in quality of life in patients with breast cancer.

Aim: To describe and compare changes in quality of life in two groups of patients with breast cancer and to identify factors predicting negative changes in quality of life within six months.

Background: Women with breast cancer suffer from various treatment side-effects, from psychological and social symptoms as well as decreased quality of life, creating a need for support that may persist throughout the breast cancer experience.

Design: This six-month longitudinal study involved a sample of 164 women, who were quasi-randomized between intervention (n = 85) and control groups (n = 79) after breast cancer surgery.

Telephone intervention and quality of life in patients with breast cancer.

The aim of this quasi-experimental study was to examine the effectiveness of a telephone support intervention 1 week after surgery on the quality of life (QOL) of patients with breast cancer. The sample consisted of 228 patients with breast cancer allocated to an intervention group (n = 120) and control group (n = 108). The data were collected using Ferrans and Powers Quality of Life Index-Cancer Version (QLI-CV) and European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Breast Cancer Module (EORTC QLQ-BR23).

Long-term associations of stress and chronic diseases in ageing and retired employees.

Long-term associations of prolonged stress symptoms and work-related stressors with chronic diseases were assessed in a sample of ageing and retired food industry workers (N = 100, mean age 62 years) using independent samples t-test, chi-squared test and binary logistic regression analyses. Data was gathered at health checkups and using self-report questionnaires in 1989 and 2000. Prolonged stress symptoms were associated with overall morbidity.

Associations of health, dietary and job-related factors, and mental problems with cardiovascular diseases in aging.

Background: While cardiovascular diseases are prevalent in aging population, associations between different factors and cardiovascular diseases are less studied or inconsistency still exists.

Aim: To determine which factors measured at baseline predicted overall cardiovascular diseases and hypertension, and which factors were currently associated with these conditions.

Methods: Based on a sample of aging and retired food industry employees (N = 100, mean age 62 years) associations of health, dietary and job-related factors and mental problems with overall cardiovascular morbidity and hypertension were assessed with independent samples t-test, chi2 test and binary logistic regression analyses.

Factors associated with premature departure from working life among ageing food industry employees.

Aim: To find out how health status, work ability and job-related factors were associated with premature departure from working life in an 11 year follow-up period.

Methods: The study population was composed of 126 ageing food industry employees. Baseline data were derived from medical examinations and self-completed questionnaires in 1989.