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

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 COL1A1 and COL1A2 genes. This paper presents the results of the first nationwide study, performed on a large cohort of 197 Polish OI patients. Variants were identified using a next-generation sequencing (NGS) custom gene panel and multiplex ligation probe amplification (MLPA) assay. The following OI types were observed: 1 (42%), 2 (3%), 3 (35%), and 4 (20%). Collagen type I pathogenic variants were reported in 108 families. Alterations were observed in α1 and α2 in 70% and 30% of cases, respectively. The presented paper reports 97 distinct causative variants and expands the OI database with 38 novel pathogenic changes. It also enabled the identification of the first glycine-to-tryptophan substitution in the COL1A1 gene and brought new insights into the clinical severity associated with variants localized in “lethal regions”. Our results contribute to a better understanding of the clinical and genetic aspects of OI

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

Wstęp: Wyniki badań z ostatnich lat dokumentują wiele korzyści wynikających z działania witaminy D na organizm człowieka na wszystkichetapach jego życia. Większość badań epidemiologicznych sugeruje, że niedobór witaminy D jest powszechny wśród mieszkańców EuropyŚrodkowej. Naturalną konsekwencją tej sytuacji jest konieczność ciągłego uświadamiania społeczeństwu oraz środowisku medycznemu,jaką rolę odgrywa witamina D w rozwoju i funkcjonowaniu organizmu ludzkiego.Metody: Na podstawie przeglądu danych literaturowych Polski Zespół Wielodyscyplinarny opracował tezy dotyczące zasad suplementacjiwitaminą D, które przesłano do członków Komitetu Naukowego konferencji „Witamina D — minimum, maksimum, optimum”,19–20 Październik, 2012, Warszawa. W trakcie powyższej konferencji z udziałem 550 delegatów oraz Ekspertów różnych dziedzin medycynyomówiono i przedyskutowano propozycje wytycznych suplementacji witaminą D populacji Europy Środkowej.Wyniki: W efekcie przeprowadzonych dyskusji Zespół Ekspertów opracował wytyczne suplementacji witaminą D dla wszystkich grupwiekowych populacji Europy Środkowej. Określono również kryteria diagnostyczne charakteryzujące stan zaopatrzenia organizmu w witaminę D: deficyt witaminy D ustalono jako stężenie 25(OH)D < 20 ng/mL (< 50 nmol/L)], suboptymalne zaopatrzenie jako stężenie25(OH)D wynoszące 20–30 ng/mL (50–75 nmol/L), a stężenie 30–50 ng/mL (75–125 nmol/L) uznano za docelowe dla zapewnienia efektuplejotropowego witaminy D.Wnioski: Poprawa obecnego stanu zaopatrzenia witaminy D w grupach dzieci, młodzieży, osób aktywnych zawodowo i seniorówpowinna zostać włączona do priorytetów polityki zdrowotnej społeczeństw Europy Środkowej.Introduction: Adequate Vitamin D intake and its concentration in serum are important for bone health and calcium–phosphate metabolismas well as for optimal function of many organs and tissues. Documented trends in lifestyle, nutritional habits and physical activityappear to be associated with moderate or severe Vitamin D deficits resulting in health problems. Most epidemiological studies suggest thatVitamin D deficiency is prevalent among Central European populations. Concern about this problem led to the organising of a conferencefocused on overcoming Vitamin D deficiency.Methods: After reviewing the epidemiological evidence and relevant literature, a Polish multidisciplinary group formulated theses onrecommendations for Vitamin D screening and supplementation in the general population. These theses were subsequently sent to ScientificCommittee members of the ‘Vitamin D — minimum, maximum, optimum’ conference for evaluation based on a ten-point scale.With 550 international attendees, the meeting ‘Vitamin D — minimum, maximum, optimum’ was held on October 19–20, 2012 in Warsaw(Poland). Most recent scientific evidence of both skeletal and non-skeletal effects of Vitamin D as well as the results of panellists’ votingwere reviewed and discussed during eight plenary sessions and two workshops.Results: Based on many polemical discussions, including post-conference networking, the key opinion leaders established ranges ofserum 25-hydroxyVitamin D concentration indicating Vitamin D deficiency [< 20 ng/mL (< 50 nmol/L)], suboptimal status [20–30 ng/mL(50–75 nmol/L)], and target concentration for optimal Vitamin D effects [30–50 ng/mL (75–125 nmol/L)]. General practical guidelines regardingsupplementation and updated recommendations for prophylactic Vitamin D intakes in Central European neonates, infants, childrenand adolescents as well as in adults (including recommendations for pregnant and breastfeeding women and the elderly) were developed.Conclusions: Improving the Vitamin D status of children, adolescents, adults and the elderly must be included in the priorities of physicians,healthcare professionals and healthcare regulating bodies. The present paper offers elaborated consensus on supplementationguidance and population strategies for Vitamin D in Central Europe

Immunogenicity of Heptavalent Conjugate Vaccine Against Streptococcus pneumoniae in Premature Babies with Low Birth Weight

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). Serum was collected four times. Results: Birth weight of children included in the study ranged from 480 g to 2450 g. The primary immunization caused an increase in the average concentration of antibodies for all serotypes in most of the participants, with no significant differences between the groups. However, there were some differences between various serotypes. Group serotypes 6B and 23F were the least immunogenic (≥0.35 μg/mL, Group I vs. Group II – 6B: 78.3% vs. 67,6% p = 0.371 and 23F: 87% vs. 83.8% p = 0.738). Prior to the administration of a booster dose, a significant decrease in antibody titer was observed in all children. The last vaccination resulted in an increased concentration of antibodies in all children in both groups, and the results were significantly higher compared to those measured following administration of three doses of the vaccine. Conclusion: PCV7 is immunogenic in children with low, very low, and extremely low birth weight. Serotypes 6B and 23F were the least immunogenic, and serotype 14 proved to be the most immunogenic

Selected factors affecting bone mass in students with diagnosed obesity, aged 7–10 years, from Łódź

Introduction: Obesity may be a risk factor for mineralisation and bone structure disorders, contrary to a common belief in its protective effects on bone tissue. Aim: The aim of the study was to assess the relationship between selected risk factors and obesity indicators and bone mass in obese children. Material and methods: The study included 80 children aged between 7 and 10 years with excessive body weight (60 obese and 20 overweight); the reference group included 37 children with body weight appropriate for height. All patients underwent physical examination with anthropometric measurements. Parents were asked to complete a questionnaire. The average daily intake of selected nutrients was analysed using Dieta 2 software package. Densitometry (dual-energy X-ray absorptiometry, DXA) was performed in all children to evaluate bone mass. Results: Obese and overweight children had statistically significantly higher total body BMD and total body BMD Z-score compared to control group. Most DXA parameters (except from volumetric bone mineral density) were positively correlated with body weight, height and waist circumference. A significant positive correlation was found between physical activity and total body BMD. There was a negative correlation between the average daily intake of proteins, carbohydrates, magnesium and phosphorus in obese children and most DXA parameters (p < 0.05). Conclusions: Bone mass in obese children is positively affected by somatic features (body weight, height, waist circumference and body composition) and physical activity, and negatively affected by increased intake of proteins, carbohydrates, phosphorus and magnesium. The calculated volumetric mineral bone density may reflect the actual bone mineral density and prevent DXA overestimation in obese children

Evaluation of allergic diseases prevalence in children prematurely born

Several data from literature suggest the potential influenceofprematuredeliverywithprolongedoxygen suplementation on prevalence of development of allergic diseases in children. The objective of the study was the retrospective analysis of 60 children aged 4 years, prematurely born, and 30 healthy children at the same age (the control group), born at term. In all children, beside detail interview and accurately clinical examination, the estimation of total IgE and specificIgE with chosen inhaled and food allergens was done. The obtained results of the studies shown twice as much prevalence of asthma in prematurely born children (33%) in comparison to these born at term (17%). However atopic dermatitis was observed more often in term children (53%) than in prematurely born children (23%). Pneumonol. Alergol. Pol. 2005, 73, 36-40

The influence of professional education on the physical, development of girls

The comparison of the physical development of giris attending two type of secondary school: professional and general education secondary school has shown differences following mainly from the existence of a preliminary selection conditioned by the social and somatic factors

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. Materials and Methods: Blood samples were collected from 59 patients diagnosed with JIA in order to determine serum levels of the following markers of bone turnover: Beta-Crosslaps, osteocalcin, bone alkaline phosphatase, osteoprotegerin and receptor activator for nuclear factor kappa-B ligand. The values were analyzed with laboratory parameters and results of dual X-ray absorptiometry (DXA). Results: Osteoprotegerin and bone alkaline phosphatase levels were age-dependent. Beta-Crosslaps values were significantly higher in patients with positive JADAS27 score (p=0.0410). Osteoprotegerin levels were higher in patients treated with biological agents than only with disease-modifying anti-rheumatic drugs (p=0.0273). There was no relation between markers of bone turnover and sex, DXA results, dosage of glucocorticosteroids and disease duration. Conclusions: The authors postulate performing DXA measurements every 6 months in patients with higher disease activity. The potential lower fracture risk in children with JIA within biological treatment needs further assessment. Age- and sex-adjusted reference rates of bone turnover markers need to be developed for Central European patients in order to assess individual values properly