Juvenile primary hypertension is associated with attenuated macro- and microvascular dilator function independently of body weight.

Objective: Hypertension has become a global medical and public health issue even in childhood. It is well accepted that hypertension is associated with impaired endothelium-dependent vascular reactivity in adult patients. However, there is a lack of data on hypertension-related endothelial dysfunction in hypertensive children.

Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.

Aim: To determine the spectrum and frequency of disease-causing variants in patients with non-syndromic hearing loss (NSHL) and to investigate the diagnostic yield of the applied genetic methods.

Methods: The study enrolled 306 unrelated patients with childhood-onset, mild-to-profound NSHL referred to Children's Hospital Zagreb for genetic testing between March 2006 and October 2023. The GJB2 variants were analyzed with the multiplex ligation-dependent probe amplification method and Sanger sequencing of the coding region of the GJB2 gene.

ASSOCIATION BETWEEN HIGH MOBILITY GROUP BOX 1 PROTEIN GENE (rs41369348) POLYMORPHISM AND IMMUNOGLOBULIN A VASCULITIS IN CHILDREN.

Immunoglobulin A vasculitis (IgAV) or Henoch-Schönlein purpura is the most prevalent systemic small vessel vasculitis in childhood. High mobility group box 1 protein (HMBG1) is a pleiotropic cytokine that functions as a pro-inflammatory signal, important for the activation of antigen-presenting cells and propagation of inflammation. HMGB1 is implicated in the pathophysiology of a variety of inflammatory diseases.

GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?

Glycosylphosphatidylinositol anchoring disorders (GPI-ADs) are a subgroup of congenital disorders of glycosylation. GPI biosynthesis requires proteins encoded by over 30 genes of which 24 genes are linked to neurodevelopmental disorders. Patients, especially those with PIGA-encephalopathy, have a high risk of premature mortality which sometimes is attributed to cardiomyopathy.

First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism.

Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the ( gene. Individuals with this syndrome present with multiple congenital anomalies, as well as a delay in development and intellectual disability. Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha Stimulating () gene, which was identified by whole-exome sequencing.

Estimation of Salt Intake in Normotensive and Hypertensive Children: The Role of Body Weight.

Objective: The connection between increased dietary salt intake and arterial hypertension has been recognized for a long time, even in children. This study aimed to investigate salt consumption in normotensive and hypertensive children and evaluate their dietary habits.

Materials And Methods: A total of fifty participants were included in this cross-sectional study: twenty-five normotensive children and 25 children of both sexes with essential arterial hypertension from 12-17 years old.

Severe Cranio-Cervical Stenosis in a Child with Saul-Wilson Syndrome: A Case Report.

Introduction: Saul Wilson syndrome (SWS) is a rare congenital syndrome characterized by a variety of symptoms, mostly skeletal changes. Saul and Wilson were the first to describe children with extremely short stature and craniofacial dysmorphism.

Case Report: We present a case of a 15-years-old boy with clinical and radiological characteristics of SWS.

Poverty and other correlates of obesity and underweight among 7-year-olds from Croatia and Montenegro.

Objectives: This study aimed at investigating poverty and other correlates of childhood underweight and obesity in two urban regions with lower (Podgorica, Montenegro) and higher economic development (Osijek, Croatia).

Study Design: Comparative study.

Methods: A comparative study was conducted on 693 children (52% boys), aged 7 years old (224 from Podgorica and 469 from Osijek).

A novel mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.

Biallelic mutations in the post-GPI attachment to proteins 3 () gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 mutations have been reported in humans. Here we report a novel homozygous mutation (c.

Molecular basis and clinical presentation of classic galactosemia in a Croatian population.

Background: Classic galactosemia is an autosomal recessive disorder of galactose metabolism caused by severely decreased activity of galactose-1-phosphate uridylyltransferase (GALT) due to pathogenic mutations in the GALT gene. To date more than 330 mutations have been described, with p.Q188R and p.

Histopathological Changes in Tracheal Mucosa Following Total Laryngectomy.

The aim of this study was to determine the long term histopathologic changes in tracheal mucosa after a total laryngectomy , and to find out the relationship between the progression of histopathologic changes in tracheal mucosa and the duration of breathing through the tracheostomy. Tracheal mucosal biopsies were taken from a total of 35 patients, of both sexes, who underwent a total laryngectomy for laryngeal carcinoma at least one year prior. Histologic specimens of tracheal mucosa were stained with hematoxylin and eosin and examined under light microscopy.

[Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy].

Lysosomal acid lipase deficiency is an autosomal recessive disorder with two distinct clinical phenotypes. Wolman disease is rapidly progressive with onset in early infancy. Complete enzyme deficiency results in massive accumulation of cholesterol esters and triglycerides in intestines, liver, spleen and other monocyte-macrophage system cells causing malabsorption, hepatosplenomegaly, liver failure and death in early infancy.

A successful early gore-tex reconstruction of an abdominal wall defect in a neonate with Cantrell pentalogy: a case report and literature review.

A surgical technique, materials used for abdominal wall reconstruction, and postoperative care are important for patient outcomes. We report the first case of neonate with Cantrell's pentalogy surviving early reconstruction of abdominal, diaphragmal and pericardial defects. Several recent investigations suggest that intraabdominal pressure monitoring may improve outcomes in this patient category.

Students' Assessment and Self-assessment of Nursing Clinical Faculty Competencies: Important Feedback in Clinical Education?

The students' assessment of clinical faculty competencies and the faculty members' self-assessment can provide important information about nursing clinical education. The aim of this study was to identify the differences between the students' assessment of the clinical faculty member's competencies and the faculty member's self-assessment. These differences can reveal interesting insights relevant for improving clinical practice.

Pathohistological changes of tracheal epithelium in laryngectomized patients.

Total laryngectomy results in a permanent disconnection of the upper and lower airways. Thus, the upper airways are bypassed and can no longer condition, humidify, and filter the inhaled air, leading to damage of the tracheobronchial epithelium. There is little scientific information available about the effects of tracheostoma breathing and the degree of mucosal damage in laryngectomized patients.

Specificities and differences in nursing students' perceptions of nursing clinical faculties' competences.

The impact that clinical faculty have on students is often misunderstood and this research gives us information about how the students' needs and perceptions change over the course of time. The aim of this study is to examine the specificities and differences between expectations and evaluations of clinical faculty's competences done by the first, second and third year undergraduate nursing students (N = 135). The instrument was a modified version of a questionnaire taken from The Nursing Clinical Teacher Effectiveness Inventory (NCTEI).

Partial monosomy 2p and partial trisomy 4q due to paternal translocation t(2;4)(p25.1;q31.3).

Clinical features in patients with segmental aneuploidy often vary depending on the size of the chromosomal segment involved. Monosomy 2p is usually observed as a part of more complex syndromes among probands of balanced reciprocal translocation carriers. Patients with dup4q syndrome have variable clinical features, which are both related to the size of duplicated segment of the 4q and specific associated monosomy.

Urinary tract infection (UTI) in newborns: risk factors, identification and prevention of consequences.

The aim of the study is identification of urinary tract infections (UTI) and urinary tract anomalies (UTA) already in the perinatal period. The authors attempted to prevent serious consequences of the above conditions in the examined children. Family history data, certain conditions in pregnancy and appertaining symptoms in children were elaborated to specify selective distinctive criteria for children at risk.

[Vitamin B12 deficiency in children--underestimated danger in the light of new knowledge].

Vitamin B12 (cobalamin) has two active forms, adenosylcobalamin and methylcobalamin which have a key role in two important metabolic pathways in humans and their deficiency is responsible for clinical problems. Cobalamin is essential during whole life, but its sufficient amount is extra important in fetal and neonatal period, when it is essential for normal child growth and development as well as for normal development of the central nervous system. Because of very complex transport and metabolism, its deficiency can be manifested in numerous congenital and acquired disorders.

Phenotype and natural history in Marshall-Smith syndrome.

Marshall-Smith syndrome (MSS) is a distinctive entity of unknown etiology with fewer than 50 patients described in the medical literature to date. Through an International collaboration and use of an online wiki to facilitate data collection and sharing, we further delineate the phenotype and natural history of this syndrome. We present 15 new patients, the oldest being 30 years, provide an update on four previously published cases, and compare all patients with other patients reported in literature.

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

By using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (NFIX) deletions or nonsense mutation in three sporadic cases of a Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, developmental delay, scoliosis, and unusual facies. Unlike the aforementioned human syndrome, Nfix-deficient mice are unable to gain weight and die in the first 3 postnatal weeks, while they also present with a spinal deformation and decreased bone mineralization. These features prompted us to consider NFIX as a candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia, and unusual facies.

Conservative surgical management of necrotic tissues following meningococcal sepsis: case report of a child treated with hyperbaric oxygen.

This article presents the case of a 5-month-old infant, who survived a fulminant meningococcal sepsis with purpura fulminans, septic shock and severe DIC with gastrointestinal bleeding. Amputation and reconstructive surgery were considered to treat the multiple skin and limb necroses at high risk of superinfection, but the surgical intervention was delayed due to the extremely doubtful outcome. On Day 10 after the onset of the disease, a hemodynamic improvement was achieved.

Clinical importance of significant asimptomatic bacteriuria in newborns and infants during early postnatal period.

The aim of the study was to detect newborns at risk for developing renal impairment, and to point out the importance of significant asimptomatic bacteriuria in perinatal period and early infancy. Severe urinary tract anomalies are very often accompanied only by asimptomatic bacteriuria in perinatal period. Three urinalysis ware done after delivery.

[Rare renal anomalies in childhood].

Three patients with megacalycosis, a rare ren anomaly which includes dilatation of all ren calices, are presented. The symptoms of acute uroinfection were present in all three patients. The patients underwent clinical observation, laboratory testing, and renal ultrasound.

[The value of Tc99m-DMSA renal scintigraphy in evaluation of severity of parenchymal lesions in children with acute urinary tract infection].

Introduction: Most authors would agree that renal parenchymal defects (scars, hypoplasia, dysplasia) in children are a major risk factor for chronic renal failure, and for development of systemic hypertension in later years. The pathophysiologic changes in acute pyelonephritis include tubulointerstitial inflammation/pus with impairment of the renal microcirculation due to compression of the glomeruli, small peritubular capillaries and vasa recta by interstitial edema. The resulting ischemia has been postulated as one of the mechanisms for the decreased accumulation of DMSA in the areas of pyelonephritis.