Genetic and environmental determinants of bone quality: a cross-sectional analysis of the Hungarian Twin Registry.

There is abundant evidence that bone mineral content is highly heritable, while the heritability of bone quality (i.e. trabecular bone score [TBS] and quantitative ultrasound index [QUI]) is rarely investigated.

Thyroid disturbances after COVID-19 and the effect of vaccination in children: a prospective tri-center registry analysis.

Rapidly evolving clinical data suggest that the novel coronavirus (SARS-CoV-2) and vaccination against COVID-19 might be associated with thyroid disturbances. However, studies remain limited among the pediatric population. Our aim was to assess the prevalence and permanence of thyroid autoimmunity (TA) and dysfunction in children after an acute infection and its potential association with vaccination.

[Association of childhood fractures with osteoporosis of the elders: a coincidence or a forecast?].

Összefoglaló. A gyermekek közel fele szenved el csonttörést. Ez lehet traumás esemény vagy a csontfejlődést megzavaró genetikus, hormonális vagy egyéb eltérés a csontváz bármely részén.

Zoledronic Acid vs Placebo in Pediatric Glucocorticoid-induced Osteoporosis: A Randomized, Double-blind, Phase 3 Trial.

Context: Glucocorticoids (GCs) prescribed for chronic pediatric illnesses are associated with osteoporotic fractures.

Objective: This study aims to determine the efficacy and safety of intravenous (IV) zoledronic acid (ZA) compared with placebo to treat pediatric GC-induced osteoporosis (GIO).

Methods: Children aged 5 to 17 years with GIO were enrolled in this multinational, randomized, double-blind, placebo-controlled phase 3 trial (ClinicalTrials.

[Skeletal-related side effects of acute lymphoblastic leukemia treatment in children].

Unlabelled: Összefoglaló. Bevezetés: A gyermekkori akut lymphoblastos leukaemia kezelése napjainkban 80% feletti túlélést tesz lehetővé, de fontos cél a kezelés okozta mellékhatások kivédése és a gyermekek hosszú távú életminőségének javítása is. Célkitűzés: A kemoterápia csontrendszerre kifejtett mellékhatásainak vizsgálata és a prognosztikai tényezők feltárása, a rizikófaktorok összegyűjtése.

[The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study].

Introduction: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients with idiopathic short stature (ISS), in 50-90% of patients with Leri-Weill dyschondrosteosis syndrome (LWS), and in almost 100% of patients with Turner syndrome.

Aim: The aim of our study was to evaluate the frequency of SHOX gene haploinsufficiency in children with ISS, LWS and in patients having Turner syndrome phenotype (TF), but normal karyotype, and to identify the dysmorphic signs characteristic for SHOX gene deficiency.

Seasonal variability of vitamin D and bone metabolism in infliximab-treated paediatric Crohn's disease.

Background: Paediatric Crohn's disease patients suffer from several complications, including low bone mineral density and inadequate serum levels of 25-hydroxy vitamin D.

Aims: The aim of this prospective study was to address the effect of infliximab therapy on bone metabolism, bone mineral density and vitamin D homeostasis. The seasonal variability of serum vitamin D levels in relation to infliximab treatment was also analysed.

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.

Background: Children with osteogenesis imperfecta are often treated with intravenous bisphosphonates. We aimed to assess the safety and efficacy of risedronate, an orally administered third-generation bisphosphonate, in children with the disease.

Methods: In this multicentre, randomised, parallel, double-blind, placebo-controlled trial, children aged 4-15 years with osteogenesis imperfecta and increased fracture risk were randomly assigned by telephone randomisation system in a 2:1 ratio to receive either daily risedronate (2·5 or 5 mg) or placebo for 1 year.

Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases.

Multiple endocrine neoplasia syndromes (MEN) are genetic disorders with glandular hyperplasia and consecutive malignant neoplasia. MEN type 2B is the least common form of these tumor syndromes. It presents with typical dysmorphic features, mucosal neuromas, ganglioneuromatosis, medullary thyroid carcinoma (MTC) and phaeochromocytoma.

High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.

Combined pituitary hormone deficiency is characterized by the impaired production of pituitary hormones, commonly including growth hormone. The pathomechanism of the childhood-onset form of this disorder may involve germline mutations of genes encoding pituitary transcription factors, of which PROP1 gene mutations have been studied most extensively. However, controversy exists about the significance of PROP1 gene mutations, as both low and high frequencies have been reported in these patients.

Calcaneous quantitative ultrasound measurements predicts vertebral fractures in idiopathic male osteoporosis.

Objectives: The aim of this study was to identify the differences in ultrasound bone variables (QUS) and to test the ability to discriminate male patients with and without vertebral fractures.

Methods: We therefore measured broadband ultrasound attenuation (BUA) and speed of sound (SOS) matched for bone mineral density (BMD) and vertebral deformity in idiopathic male osteoporosis.

Results: One hundred and seventeen men (age 56.

Comparative evaluation of local and international reference databases for forearm densitometry: different impacts on diagnostic decisions.

Reference databases play a key role in the management of osteoporosis. The aim of this preliminary study was to compare the diagnostic consequences of using either an international or a local reference database in peripheral densitometry. For this purpose, standard curves for bone mineral density (measured by dual-energy X-ray absorptiometry at the distal and proximal forearm) were generated for healthy Hungarian men and women.

Comparison of the femoral neck bone density, quantitative ultrasound and bone density of the heel between dominant and non-dominant side.

Our study was initiated to evaluate whether there are differences between the two sides, depending on hand dominance, in densitometry values and quantitative ultrasound parameters (QUS) of the lower limb. One hundred and six women and 44 men were involved. The hand dominance was determined by interview.

Effect of CO2 on LPS-induced cytokine responses in rat alveolar macrophages.

Alveolar macrophages (AM) may be exposed to a range of CO(2) and pH levels depending on their location in the alveoli and the health of the lung. Cytokines produced by AM contribute to inflammation in acute lung injury (ALI). Current ventilatory practices for the management of ALI favor low tidal volumes, which can give rise to increases in CO(2) and changes in pH of the alveolar microenvironment.

IFN-gamma downregulates interleukin-4 functional activity on monocytes by multiple mechanisms.

Interleukin-4 (IL-4) has potent anti-inflammatory properties on monocytes and suppresses lipopolysaccharide (LPS)-induced tumor necrosis factor-alpha (TNF-alpha) and IL-1beta production. Culture with interferon (IFN-gamma) alters human monocyte responses to IL-4 by multiple mechanisms. As previously published, IFN-gamma reduced IL-4-activated signal transducer and activator of transcription-6 (STAT-6).

Serum osteocalcin and insulin-like growth factor I levels in children with congenital adrenal hyperplasia.

Patients with the virilizing forms of congenital adrenal hyperplasia (CAH) need a life-long glucocorticoid replacement therapy and also an additional mineralocorticoid replacement in cases with the salt-wasting form of the disease. Glucocorticoids are reported to decrease the serum osteocalcin levels and to inhibit the effects of insulin-like growth factor I (IGF-I). To collect data on the age related patterns of osteocalcin and IGF-I production in patients with CAH, measurements of these compounds have been carried out in a considerably large sample of treated CAH patients and control subjects in childhood and adolescence.

Ultraviolet B-induced suppression of immune responses in interleukin-4-/- mice: relationship to dermal mast cells.

Ultraviolet B radiation is immunosuppressive by multiple mechanisms. In interleukin-4-/- mice, ultraviolet B radiation was not able to suppress delayed-type hypersensitivity or contact hypersensitivity responses when the sensitizing antigen was applied to nonirradiated sites. In contrast, ultraviolet B significantly suppressed contact hypersensitivity responses to haptens applied to irradiated sites in interleukin-4-/- mice.

Age-related changes in dermal mast cell prevalence in BALB/c mice: functional importance and correlation with dermal mast cell expression of Kit.

Differences in dermal mast cell prevalence for adult mice of different strains have been reported previously. In this study, the dermal mast cell prevalence for BALB/c and C57BL/6 mice at 6 weeks of age was similar but as BALB/c mice matured from 6 to 10 weeks of age, their dermal mast cell prevalence halved. In contrast, there was no significant difference in the dermal mast cell prevalence of 6- and 10-week-old C57BL/6 mice.

A critical role for dermal mast cells in cis-urocanic acid-induced systemic suppression of contact hypersensitivity responses in mice.

Many studies have implicated cis-urocanic acid (cis-UCA) in UVB-induced immunomodulation. The strongest evidence came from studies in mice whereby a cis-UCA antibody blocked UVB-induced suppression of delayed-type hypersensitivity responses. Furthermore, in several studies, the cis-UCA antibody at least partially reversed UVB suppression of contact hypersensitivity responses.

[Late onset type I tyrosinemia].

The authors present a case of tyrosinemia type 1, 3 years old girl at the time of diagnosis. The presenting symptoms were 3 times colic, obstipation, acute encephalopathy, hypertension, hyponatremia, according to the porphyric crisis. Her kidney function tests gave normal results during illness, only once an increased calcium turnover was observed.

[Human parvovirus B19 infection in a child suffering from chronic arthritis].

The pathogenicity of the human parvovirus B19 has been disclosed in the last two decades. Different syndromes (erythema infectiosum or hydrops fetalis) can be produced by this virus as well as aplastic crisis in patients with haemolytic anaemia. It is a common infection both in adults and in children.

Serum and urinary steroids in girls with precocious pubarche and/or hirsutism due to mild 3-beta-hydroxysteroid dehydrogenase deficiency.

To obtain data on the correlation of serum and urinary steroids in nonclassical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency, 9 girls with precocious pubarche and 33 adolescent girls with mild to severe hirsutism were studied. Urinary steroid profiles were analyzed by capillary gas chromatography. Serum 17-OH-pregnenolone (17-OHPreg) and 17-OH-progesterone (17-OHP) were determined by RIA after column-chromatographic separation.

The effect of socio-economic conditions on the time of diagnosis and compliance during treatment in growth hormone deficiency.

In 78 patients with idiopathic growth hormone (GH) deficiency the effect of the fathers' educational level on the age and the extent of growth retardation at diagnosis was studied. There was a tendency for an increase of the age and the degree of growth retardation with the decrease of the fathers' completed grades. The occurrence of height SD scores less than -4.

Blood-spot 17-hydroxyprogesterone daily profiles in infants with congenital adrenal hyperplasia.

To define the optimum blood levels of 17-hydroxyprogesterone, the hormonal effects of glucocorticoid treatment were studied during the neonatal period and infancy in 20 patients with 21-hydroxylase deficiency. Repeated daily profiles of blood spot 17-hydroxyprogesterone were used to monitor therapy and these data were related to serum concentrations of testosterone. A wide fluctuation of blood 17-hydroxyprogesterone levels was observed in patients with a mean daily value higher than 150 nmol/l indicating poor control.