A5038157295- Growth Hormone and Insulin-like Growth Factors
- Renal and related cancers
- Genetic factors in colorectal cancer
- Craniofacial Disorders and Treatments
- Bone health and osteoporosis research
- Genetics and Neurodevelopmental Disorders
- TGF-β signaling in diseases
- Genetic Syndromes and Imprinting
- Cleft Lip and Palate Research
- Inflammatory Bowel Disease
- Connective tissue disorders research
- Pharmaceutical studies and practices
- Bone and Joint Diseases
- Microscopic Colitis
- Forensic Anthropology and Bioarchaeology Studies
- Birth, Development, and Health
- Neonatal Respiratory Health Research
- Pluripotent Stem Cells Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Renal Transplantation Outcomes and Treatments
- Pancreatic function and diabetes
- Lipid metabolism and disorders
- Vitamin D Research Studies
- Ethics and Legal Issues in Pediatric Healthcare
- dental development and anomalies
Charles University
2017-2024
University Hospital in Motol
2017-2024
Rutgers, The State University of New Jersey
2024
Hospital General de Niños Ricardo Gutierrez
2024
Monash University
2024
Royal Manchester Children's Hospital
2024
Bambino Gesù Children's Hospital
2024
IRCCS Materno Infantile Burlo Garofolo
2024
Abstract Context The C-type natriuretic peptide receptor encoded by the NPR2 gene is a paracrine regulator of growth plate; heterozygous variants cause short stature with possible presence different signs bone dysplasia. To date, effect hormone (GH) treatment has been described in few individuals inconsistent results. Objectives identify among children familial (FSS) and to describe their phenotype, including GH response. Design, Settings Patients Out 747 patients treated single center, 87...
Abstract Context Collagens are the most abundant proteins in human body. In a growth plate, collagen types II, IX, X, and XI present. Defects genes cause heterogeneous syndromic disorders frequently associated with short stature. Less is known about oligosymptomatic collagenopathies. Objective This work aims to evaluate frequency of collagenopathies familial stature (FSS) children describe their phenotype, including hormone (GH) treatment response. Methods Eighty-seven FSS (pretreatment...
Introduction Automated bone age assessment has recently become increasingly popular. The aim of this study was to assess the agreement between automated and manual evaluation using method according Tanner-Whitehouse (TW3) Greulich-Pyle (GP). Methods We evaluated 1285 scans from 1202 children (657 612 boys) by both (TW3 as well GP) assessment. BoneXpert software versions 2.4.5.1. (BX2) 3.2.1. (BX3) (Visiana, Holte, Denmark) were compared with root mean squared error (RMSE) analysis. Results...
Inflammatory bowel diseases (IBD) are associated with altered bone health and increased risk for fractures. Vitamin D deficiency is frequently found in IBD; however, the effect of vitamin supplementation on children IBD poorly understood. We aimed to observe changes volumetric density dynamic muscle functions after substitution a cohort pediatric patients IBD. This was prospective observational study 55 (aged 5–19 years) Bone quality assessed using peripheral quantitative computed tomography...
Introduction The growth hormone deficiency (GHD) diagnosis is controversial especially due to low specificity of (GH) stimulation tests. It therefore believed that children diagnosed with GHD form a heterogeneous group disorder frequently independent on GH function. No study evaluating the complex etiology failure in has been performed thus far. Aims To discover genetic short stature from families stature. Methods Fifty-two primary and vertically transmitted (height SDS child his/her shorter...
Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic seems to occur more frequently than expected. Clinical predictors of FSS have not been elucidated. The aim the study was identify etiology and its clinical in children. Of 747 patients treated with hormone (GH) our center, 95 met inclusion criteria (pretreatment height ≤−2 SD child his/her shorter parent); secondary Turner/Prader–Willi syndrome were...
Neporušená produkce, sekrece a funkce růstového hormonu (GH) je zásadní pro fyziologický růst člověka. Správná diagnostika deficitu (GHD) nezbytná k včasnému zahájení substitučního podávání GH s cílem zlepšit tělesnou výšku zabránit hypoglykemiím dalším důsledkům GH. I po 60 letech od zavedení první eseje laboratornímu měření naráží růsto vého na technické interpretační problémy. Stimulační testy se sice považují za zlatý standard diagnostiky GHD, mají ale nízkou specificitu, mohou proto...
Abstract Context Familial tall stature (FTS) is considered to be a benign variant of growth with presumed polygenic etiology. However, monogenic disorders possible associated pathological features could also hidden under the FTS phenotype. Objective To elucidate genetic etiology in families and describe their phenotype detail. Methods Children (the life-maximum height both child his/her taller parent > 2 SD for age sex) referred Endocrinology center Motol University Hospital were...
<b><i>Introduction:</i></b> The <i>SALL4</i> gene encodes a transcription factor that is essential for early embryonic cellular differentiation of the epiblast and primitive endoderm. It required development neural tissue, kidney, heart, limbs. Pathogenic variants cause Duane-radial ray syndrome (Okihiro syndrome), acro-renal-ocular syndrome, Holt-Oram syndrome. We report family with vertical transmission pathogenic variant leading to radial hypoplasia...
Osteoporosis occurs in every third individual after simultaneous pancreas kidney transplantation (SPKT). Currently used bone measures insufficiently predict their fracture risk. Lumbar spine Trabecular score (TBS) and distal radius areal volumetric mineral density (BMD) were monitored for the first time patients with type 1 diabetes chronic renal failure SPKT steroid-sparing protocol. In 33 subjects (mean age 43.4 ± 9.8 years), dual-energy X-ray absorptiometry peripheral quantitative...
<title>Abstract</title> <bold>Purpose: </bold>Endoscopically assisted sagittal strip craniotomy with subsequent cranial orthosis is a frequently used surgical approach for non-syndromic synostosis. Originally, this technique involved wide craniectomy bilateral wedge osteotomies. More recent studies suggest omitting osteotomies, achieving similar outcomes. The controversy surrounding osteotomies and our efforts to refine led us create models evaluate the mechanical impact of <bold>Methods:...
Because the causes of combined pituitary hormone deficiency (CPHD) are complex, etiology congenital CPHD remains unknown in most cases. The aim study was to identify genetic a well-defined single-center cohort. In total, 34 children (12 girls) with (growth (GH) and impaired secretion at least one other hormone) treated GH our center were enrolled study. Their median age 11.2 years, pre-treatment height -3.2 s.d., maximal stimulated 1.4 ug/L. Of them, 30 had central adrenal insufficiency, 27...
Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)
This study aimed to assess the frequency of natriuretic peptide receptor type B gene (NPR2 ) variants in 87 children with familial short stature (FSS) and evaluate their response GH therapy. By applying whole-exome or custom-targeted NGS panel sequencing, NPR2 were found 5 (5.7%) belonging 4 families. These classified as pathogenic (n =2) likely =3) according American College Medical Genetics Genomics guidelines. Three born SGA 3 deficient (GHD). Two had disproportionate limbs one a...
Abstract Backround: Collagens are the most abundant proteins in human body. In a growth plate, collagen types II, IX, X and XI present. Defects genes cause heterogeneous syndromic disorders frequently associated with asymmetric short stature (e.g. Kniest dysplasia, spondyloepiphyseal dysplasia). Less is known about nonsyndromic collagenopathies - data their frequency subtle phenotypic signs sparse, information response to hormone (GH) treatment lacking completely. Aim: To evaluate of...
This study aimed to assess the frequency of genetic collagenopathies in children with familial short stature (FSS), describing phenotype and reporting response rhGH treatment after 1 3 years at adult height.