NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%-90% of cases have dominantly inherited heterozygous pathogenic variants located in the and genes.

Bone Turnover Markers and Bone Mineral Density in Children with Hypophosphatemic Rickets.

Hypophosphatemic rickets is a rare disease that results in bone deformities. However, little is known about bone turnover and bone mass disorders in this disease. This retrospective study included 12 children aged 1-16 years diagnosed with hypophosphatemic rickets.

The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta.

Background: Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue with variable phenotype and heterogeneous genetic background. Majority of reported mutations are glycine substitutions, whose clinical outcome ranges from mild to perinatal lethal. The phenotype appears to be influenced by the properties of amino acid side chain and the degree of structural aberration of collagen molecules.

Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal Regions.

Osteogenesis imperfecta (OI) is a rare genetic disorder demonstrating considerable phenotypic and genetic heterogeneity. The extensively studied genotype-phenotype correlation is a crucial issue for a reliable counseling, as the disease is recognized at increasingly earlier stages of life, including prenatal period. Based on population studies, clusters in and genes associated with the presence of glycine substitutions leading to fatal outcome have been distinguished and named as "lethal regions.

Metabolic bone markers can be related to preserved insulin secretion in children with newly diagnosed type 1 diabetes.

Introduction: Type 1 diabetes (T1D) may be associated with numerous complications including bone metabolism disorders. The aim of the study was to evaluate the bone metabolism markers twice in children with a newly diagnosed T1D and after an average of seven months of its duration in relation to parameters of the clinical course of diabetes.

Material And Methods: In 100 T1D patients and 52 control subjects, the following bone turnover markers were evaluated: osteocalcin - OC, osteoprotegerin - OPG, sRANKL, and deoxypyridoline in urine - DPD and DXA examination was also performed.

Evidence of a significant vitamin D deficiency among 9-13-year-old Polish children: results of a multicentre study.

Purpose: To evaluate the extent to which the population of Polish preadolescents is vitamin D deficient and to assess seasonal variations in vitamin D status.

Participants And Methods: A total of 720 healthy children aged 9-13 years (409 girls, 311 boys) residing in 6 representative geographical locations in Poland were studied. A parental-assisted questionnaire provided data on nutritional habits, vitamin D supplements and sun exposure.

Vitamin D Supplementation Guidelines for General Population and Groups at Risk of Vitamin D Deficiency in Poland-Recommendations of the Polish Society of Pediatric Endocrinology and Diabetes and the Expert Panel With Participation of National Specialist Consultants and Representatives of Scientific Societies-2018 Update.

Introduction: Vitamin D deficiency is an important public health problem worldwide. Vitamin D deficiency confers a significant risk for both skeletal and non-skeletal disorders and a number of lifelong negative health outcomes. The objectives of this evidence-based guidelines document are to provide health care professionals in Poland, an updated recommendation for the prevention, diagnosis and treatment of vitamin D deficiency.

Is it possible to predict a risk of osteoporosis in patients with juvenile idiopathic arthritis? A study of serum levels of bone turnover markers.

Background: Low bone mineral density is a common finding in children with systemic connective tissue diseases, including juvenile idiopathic arthritis (JIA). The influence of the ongoing process of bone remodeling on the disease course merits further investigation. The aim of this study was to assess the clinical relevance of markers of bone turnover and their potential role as predictors of higher fracture risk and, by extension, risk of osteoporosis.

[Impact on the development of parental awareness of excess weight in children].

Unlabelled: A lot of publications emphasize the special role of parents' eating habits and their lifestyle on the prevalence of excess body weight in children.

Aim: The aim of this study was to answer the question whether parents of children who are overweight and obese are aware of this problem and what factors affect their perception of the excess body weight degree in their offspring.

Materials And Methods: The study included 137 children aged 6,5- 13,5 years.

[Secondary osteoporosisn in boys with Alagille syndrome. Case report].

Alagille syndrome is a multiorgan disorder, which especially manifests itself with cholestasis, characteristic facial features, circulatory systems defects, defects of the front segment of the eye, dysplastic changes in bones and kidneys and impaired angiogenesis.The disease is caused by Jagged 1 gene mutation (JAG, 20p12 chromosome) which encodes ligand for Notch receptor. JAG/ Notch signaling pathway plays important evolutionary role in cell differentiation in organogenesis process .

Assessment of the influence of body composition on bone mass in children and adolescents based on a functional analysis of the muscle-bone relationship.

Background: The functional model of skeletal development considers the mechanical factor to be the most important skeletal modulant. The aim of the study was a functional analysis of the bone-muscle relationship in children with low and normal bone mass.

Material And Methods: The study involved 149 children with low and 99 children with normal bone mass (control group).

Immunogenicity of heptavalent conjugate vaccine against Streptococcus pneumoniae in premature babies with low birth weight.

Background: There are few studies about immunogenicity and safety of heptavalent pneumococcal-CRM197 conjugate vaccine (PCV7) in low birth weight infants.

Objective: Assessment of immunogenicity following administration of PCV7 in low birth weight children.

Methods: The PCV7 vaccine was administered to 60 infants divided into two groups: 23 children with birth weight <1000 g (Group I); and 37 children with birth weight ≥1000 g (Group II).

Effect of vitamin D receptor gene (VDR) polymorphism on body height in children - own experience.

Unlabelled: Genetic and environmental factors have an influence on the process of growth and development of the body. One of numerous genetic factors can be the vitamin D receptor gene (VDR). The study aimed at evaluating the relationship between VDR polymorphism and somatic parameters in children.

Practical guidelines for the supplementation of vitamin D and the treatment of deficits in Central Europe - recommended vitamin D intakes in the general population and groups at risk of vitamin D deficiency.

Introduction: Adequate Vitamin D intake and its concentration in serum are important for bone health and calcium-phosphate metabolism as well as for optimal function of many organs and tissues. Documented trends in lifestyle, nutritional habits and physical activity appear to be associated with moderate or severe Vitamin D deficits resulting in health problems. Most epidemiological studies suggest that Vitamin D deficiency is prevalent among Central European populations.

Recurrent fractures as a new skeletal problem in the course of Angelman syndrome.

Angelman syndrome is a genetically inherited syndrome with severe retardation of psychomotor development and speech disturbances, usually accompanied by epilepsy, typical dysmorphic features, and some skeletal symptoms. The aim of the current report is to present new skeletal symptoms which may occur in the course of AS, based on a case report of an 8-year-old girl with confirmed 15q11;12 microdeletion and recurrent low-trauma bone fractures. According to our knowledge it is the first report of such skeletal symptoms in patient with a diagnosis of AS.

Assessment of quality of life of parents of children with osteogenesis imperfecta.

Objectives: The aim of the work was an objective assessment of the quality of life of parents of children with osteogenesis imperfecta (OI) and of its determinant factors.

Material And Methods: The survey answers of 25 parents were analyzed and contained demographic parameters, socioeconomic status information, quality of life of responses and type of support they have been receiving. In order to assess the effects of this children's disease on the quality of life of the parents, families were divided into two groups depending on the OI severity: group M--mild (type I and IV OI), group S--severe (type III OI).

[Brittle bone disease type III in neonates--own experience].

Unlabelled: Fractures of long bone and ribs in the neonatal period may be expression of genetic disturbances of collagen type I production. The aim of the study was to present clinical symptoms, results of radiological, biochemical and densitometric examinations in 11 newborns with osteogenesis imperfecta type III.

Methods: In all children accurate medical history, clinical examination and radiograph were performed.

Vitamin D receptor gene variability as a factor influencing bone mineral density in pediatric patients.

To determine the relationship between the polymorphism of vitamin D receptor gene and the bone mineral density in children. The study group consisted of 395 children aged 6-18 years. All patients underwent genotyping using the PCR-RFLP method within polymorphic loci BsmI (rs1544410), FokI (rs2228570), ApaI (rs7975232) and Taq I (rs731236) of the VDR gene.

[Low bone mass in a 17-year-old girl in the course of yolk sac tumor treatment--case report].

The aim of the paper was to present symptoms and results of biochemical and densitometric examination in a 17-year-old girl. The girl had yolk sac tumor at the age of 12, in course of which she developed secondary osteoporosis.

Proteomic analysis of plasma profiles in children with recurrent bone fractures.

Unlabelled: The aim of the study is proteomic analysis of the plasma profile in children with recurrent bone fractures. The study involved 16 children: 6 patients with recurrent low-energy fractures and normal bone mass and 10 with osteogenesis imperfecta. In the analysis of the protein profile, the two-dimensional protein electrophoresis was used (Ettan DALT II, Amersham Bioscience).

Immunogenicity and safety of heptavalent conjugate vaccine against Streptococcus pneumoniae in pre-term Polish infants.

The purpose of the study was to assess post-vaccination immune response and occurrence of adverse events in the group of prematurely born infants. The study included 40 pre-term infants. Each child was vaccined four times (2, 4, 6 and 16 months) with the heptavalent conjugated pneumococcal vaccine (PCV7).

[The vitamin D and calcium consumption and bone quality in children of łódŹ (Poland) at the age 9-13 years].

Introduction: Only few publications concern the influence of the vitamin D and calcium consumption on the bone mineralization in the developmental age.

Aim Of The Study: The aim of the study was the analysis of the vitamin D and calcium diet supply in relation to the bone status assessed with Quantitative Ultrasound (QUS) in growing children.

Material And Methods: The study comprised 643 pupils (384 girls and 259 boys) at the age 9-13 years from primary schools in łódŹ.

The clinical efficacy of vitamin D in children with primary low bone mass.

Introduction: Vitamin D supplementation in prevention and treatment of osteoporosis is a widely accepted standard, but the latest studies show the necessity of increasing the intake of this vitamin to keep its concentration on higher levels - above 30 ng/ml. The best index describing the body vitamin D supply is hepatic metabolite of vitamin D (25OHD) concentration in the serum. There are few data on efficacy of this vitamin intake in children with low bone mass.

[Clinical aspects and treatment of respiratory syncytial virus infection in infants in the first 6 months of life].

Unlabelled: Respiratory viral infection are one of the most frequent problem in infant and the younger children. Respiratory syncytial virus infects nearly all children (75-100%) in the first 36 months of life.

Aim: Analysis of clinical aspects and treatment of respiratory syncytial virus infection in infant hospitalized in year 2009-2010 in Department of Pediatrics Propedeutics and Bone Metabolism Diseases.