Publications by authors named "Skalova S"

Despite advances in neonatal care, neonatal jaundice remains a common problem in maternity wards. The present retrospective epidemiological study collected data on a sample of 710 newborns and compared the incidence of neonatal jaundice in infants born to Rh (D) negative and 0 Rh (D) positive mothers. The primary aim was to determine whether the higher incidence of maternal alloimmunisation in newborns was causally related to a potentially higher incidence of neonatal jaundice in newborns of 0 Rh (D) positive mothers.

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Background: Several previous studies have reported a more severe course of nephrotic syndrome in children with low birth weight.

Patients: Cohort of 223 children with idiopathic nephrotic syndrome.

Methods: We aimed to investigate the association between course of nephrotic syndrome and low birth weight.

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This review article introduces the basic principles of infants' neurophysiology, while summarizing the core knowledge of the anatomical structure of the auditory pathway, and presents previous findings on newborns' neural speech processing and suggests their possible applications for clinical practice. In order to tap into the functioning of the auditory pathway in newborns, recent approaches have employed electrophysiological techniques that measure electrical activity of the brain. The neural processing of an incoming auditory stimulus is objectively reflected by means of auditory event-related potentials.

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Monogenic nephrotic syndrome (NS) is associated with a resistance to initial glucocorticoid therapy and causative variants, which may be found in several genes influencing podocyte stability and kidney development. The gene, which encodes the retrograde intraflagellar transport protein IFT139, is found mostly in association with ciliopathies in humans. The role of this protein in podocyte cytoskeleton stability was confirmed later and the mutated also may be associated with proteinuric diseases, such as nephrotic syndrome.

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Introduction: Treatment with orally administered ibandronate is an effective way to increase bone mineral density (BMD) and reduce fracture rate in post-menopausal women and in men with osteoporosis. There are only very few reports concerning ibandronate therapy in children and adolescents, and in patients with osteogenesis imperfecta (OI), as bisphosphonates are not registered for therapeutic use in pediatrics.

Case Report: We present three patients with OI, where once-monthly oral ibandronate increased spinal BMD after two and four years, respectively, of therapy without any occurrence of new fractures and no adverse reactions.

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Prenatal learning of speech rhythm and melody is well documented. Much less is known about the earliest acquisition of segmental speech categories. We tested whether newborn infants perceive native vowels, but not nonspeech sounds, through some existing (proto-)categories, and whether they do so more robustly for some vowels than for others.

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A two-year-old girl with two weeks of abdominal pain, vomiting, and food refusal, ten months after percutaneous endoscopic gastrostomy insertion because of inadequate peroral intake, was admitted to a tertiary centre hospital. On admission, the extracorporeal part of the gastrostomy was much shortened. X-ray examination revealed migration of the end of the gastrostomy tube with a left-shifted course of the tube through the duodenum.

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Purpose: The primary objective of this study was to compare clinical outcomes of very low birth weight (VLBW) infants with 25-hydroxy vitamin D [25(OH)D] levels <25 nmol/l in umbilical cord blood versus VLBW infants with 25(OH)D levels in cord blood >25 nmol/l. The secondary objective was to evaluate umbilical cord vitamin D as a risk factor for respiratory distress syndrome (RDS) in preterm infants.

Methods: We examined 25(OH)D levels in umbilical cord blood and in infants' serum at discharge from the neonatal intensive care unit.

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To evaluate vitamin D status in mothers and their very low birth weight infants (VLBW) at birth (umbilical cord blood) and at discharge with currently recommended supplementation of vitamin D. Ninety-four infants with birth weight less than 1500 g completed the study. The total daily vitamin D intake was 800-1000 IU.

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Hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinoma (HLRCC)/fumarate hydratase deficient renal cell carcinoma (FHRCC) is defined by molecular genetic changes (mutation/LOH in fumarate hydratase (FH) gene). We investigated chromosomal numerical aberration pattern (CNV) in FHRCC/HLRCC using array comparative genomic hybridization analysis and low pass whole genome sequencing. Genetic analysis was successfully completed in 12 tumors.

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The aim of this pilot study was to estimate physiological parathyroid hormone (PTH) levels and their relationship with bone metabolism parameters in otherwise healthy preterm newborns with birth weight 1000-1500 g. PTH, 25(OH)D, S-Ca, S-P, and ALP were analysed from blood samples obtained from 20 preterm infants once a week up to the 36th gestational week. Of the total 134 examined serum samples for PTH levels, the estimated range was 1.

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Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by transiently increased activity of serum alkaline phosphatase (S-ALP), predominantly its bone or liver isoform, in children under five years of age. There are no signs of metabolic bone disease or hepatopathy corresponding with the increased S-ALP. THI is benign disorder, rather laboratory than clinical disorder, which is usually accidentally detected in both healthy and sick children.

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Stem cells are unique pools of cells that are crucial for embryonic development and maintenance of adult tissue homeostasis. The landmark Nobel Prize winning research by Yamanaka and colleagues to induce pluripotency in somatic cells has reshaped the field of stem cell research. The complications related to the usage of pluripotent embryonic stem cells (ESCs) in human medicine, particularly ESC isolation and histoincompatibility were bypassed with induced pluripotent stem cell (iPSC) technology.

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Introduction: Association between high serum homocysteine (S-Hcy) levels and low bone mineral density (BMD) and increased fracture risk in postmenopausal women has been documented. Data concerning S-Hcy and bone health in children are scarce.

Objective: Our aim was to evaluate S-Hcy in children and adolescents with impaired bone health and look for correlations with clinical and laboratory data.

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Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Pamidronate, an intravenously administered bisphosphonate, which is a potent inhibitor of bone resorption, has been reported only once for treatment IIH. We present a case of a previously healthy 5-month-old boy with IIH, where calcemia peaked to 5 mmol/L.

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Introduction: Gitelman syndrome (GS) is a very rare autosomal recessive tubulopathy due to loss-of-function or mutation in solute carrier family12, member 3 gene (SLC12A3 gene) encoding thiazide-sensitive NaCl co-transporter in the distal convoluted tubule, leading to hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and low-to-normal blood pressure. Clinical signs are mostly secondary to chronic hypokalemia and include dizziness, fatigue, constipation and weakness. Patients can also present with muscle cramps, tetany, fatigue and convulsions due to severe metabolic alkalosis or hypomagnesemia.

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Background: We analyzed the impact of immunoglobulin M (IgM) positivity on the relapse-free interval post completed course of cyclophosphamide (CYC) treatment in patients with steroid-dependent nephrotic syndrome (SDNS) and minimal change disease (MCD).

Methods: This was a retrospective chart review of all children who received CYC for SDNS and MCD between 1988 and 2009. Patients were divided into three groups based on kidney biopsy: MCD without immunoglobulin M (IgM) positivity (IgM-), MCD with IgM-positive immunofluorescence (IF) only (IgM+), and MCD with IgM-positive IF and electron-dense deposits on electron microscopy (IgM++).

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Autoimmunity is often observed among individuals with primary immune deficiencies; however, the frequency and role of autoimmunity in Schimke immuno-osseous dysplasia (SIOD) has not been fully assessed. SIOD, which is caused by mutations of SMARCAL1, is a rare autosomal recessive disease with its prominent features being skeletal dysplasia, T cell deficiency, and renal failure. We present a child with severe SIOD who developed rituximab resistant Evans syndrome (ES).

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Hypercalciuria is defined as urinary calcium excretion ≥0.1 mmol/kg/24 h, and can be a result of various disease states. The most frequent clinical signs of hypercalciuria include hematuria, abdominal pain, urolithiasis, nephrocalcinosis, dysuria, enuresis, and urinary tract infection.

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Podocin mutations (NPHS2 gene) are mostly responsible for steroid-resistant nephrotic syndrome (SRNS) of childhood onset. Patients with NPHS2 gene mutations do not respond to corticoids and other immunosuppressive agents; partial remission can be rarely induced by cyclosporin A. We present a boy, where SRNS was diagnosed within first year of life.

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TH of infancy and early childhood is characterized by transiently increased S-ALP, predominantly its bone or liver isoforms. There are neither signs of metabolic bone disease or hepatopathy corresponding to the increased S-ALP, nor a common underlying/triggering disease. TH may also occur in children post-renal Tx, which may raise significant concerns and anxiety.

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