Assessment of Quality of Life, Anxiety and Depressive Symptoms in Serbian Children with Celiac Disease and their Parents.

Objectives: To evaluate the level of health-related quality of life (QoL) and presence of anxiety and depressive symptoms in Serbian children with celiac disease from the perspective of patients and their parents.

Methods: This cross-sectional study investigated the group of children and adolescents with celiac disease aged 5-18 y, and at least one parent of each patient with celiac disease. The patients and their parents were recruited at the Institute of Mother and Child Health of Serbia and the University Children's Hospital in Belgrade.

(TA) Promoter Genotype: Diagnostic and Population Pharmacogenetic Marker in Serbia.

The UGT1A1 enzyme is involved in the metabolism of bilirubin and numerous medications. Unconjugated hyperbilirubinemia, commonly presented as Gilbert syndrome (GS), is a result of decreased activity of the UGT1A1 enzyme, variable number of TA repeats in the promoter of the gene affects enzyme activity. Seven and eight TA repeats cause a decrease of UGT1A1 activity and risk GS alleles, while six TA repeats contribute to normal UGT1A1 activity and non-risk GS allele.

Novel genetic risk variants for pediatric celiac disease.

Background: Celiac disease is a complex chronic immune-mediated disorder of the small intestine. Today, the pathobiology of the disease is unclear, perplexing differential diagnosis, patient stratification, and decision-making in the clinic.

Methods: Herein, we adopted a next-generation sequencing approach in a celiac disease trio of Greek descent to identify all genomic variants with the potential of celiac disease predisposition.

Food allergy in children.

Food allergy represents a highly up-to-date and continually increasing problem of modern man. Although being present in all ages, it most often occures in children aged up to three years. Sensitization most often occurs by a direct way, but it is also possible to be caused by mother's milk, and even transplacentally.

Acute Diarrhea in Children.

Acute diarrhea (AD) is the most frequent gastroenterological disorder, and the main cause of dehydration in childhood. It is manifested by a sudden occurrence of three or more watery or loose stools per day lasting for seven to 10 days, 14 days at most. It mainly occurs in children until five years of age and particularly in neonates in the second half-year and children until the age of three years.

Celiac crisis in children in Serbia.

Background: To assess the prevalence and risk factors of celiac crisis (CC) in children with classical celiac disease (CD).

Methods: This retrospective study comprised 367 children with classical CD diagnosed from 1994 to 2015. The diagnosis of CD was based on the revised ESPGHAN criteria and CC on acute worsening and rapid progression of chronic diarrhea and vomiting followed by severe dehydration, multiple metabolic derangements and a marked decrease of body weight.

Case report of acute vitamin D intoxication in an infant.

Introduction: Vitamin D intoxication represents a rare and potentially serious pathological condition caused by the excess of calcium and phosphorus. We are presenting an infant with vitamin D intoxication due to excessive daily administration, as well as therapeutic procedures that prevented its adverse effects.

Case Outline: A 1.

Alpha-1-antitrypsin deficiency in children: clinical characteristics and diagnosis.

Introduction: Alpha-1-antitrypsin deficiency (AATD) is a relatively rare and clinically very heterogeneous autosomal recessive disorder.

Objective: Presentation of clinical characteristics of AATD in the first months after birth, as well as the significance of testing brothers and sisters for its presence.

Methods: Objectives of the study were analyzed on a sample of eight children (four male and four female, aged 63 months (mean 14.

HLA genotyping in pediatric celiac disease patients.

Celiac disease (CD) is a chronic inflammatory disease in the small intestine triggered by gluten uptake that occurs in genetically susceptible individuals. HLA-DQ2 protein encoded by HLA-DQA1*05 and DQB1*02 alleles is found in 90-95% of CD patients. All of the remaining patients carry HLA-DQ8 protein encoded by HLA-DQA1*03 and DQB1*03:02 alleles.

Hereditary hyperbilirubinemias.

Inherited disorders of bilirubin metabolism involve four autosomal recessive syndromes: Gilbert, CriglerNajjar, Dubin-Johnson and Rotor, among which the first two are characterized by unconjugated and the second two by conjugated hyperbilirubinemia. Gilbert syndrome occurs in 2%-10% of general population, while others are rare. Except for Crigler-Najjar syndrome, hereditary hyperbilirubinemias belong to benign disorders and thus no treatment is required.

X-linked hypophosphatemic rickets: case report.

Introduction: X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene.

Case Outline: A 2.

Presentation of an infant with nutritional deficiency dermatitis as the initial manifestation of cystic fibrosis.

Introduction: Cystic fibrosis (CF) is a multisystemic autosomal recessive disease most frequently recognized by characteristic respiratory and/or digestive manifestations. Exceptionally rare, as is the case with the infant we are presenting, the initial sign of the disease can be nutritional deficiency dermatitis (NDD).

Case Outline: A three-month-old male infant of young and healthy non-consanguineous parents, born at term after the first uneventful pregnancy, was hospitalized due to atopic dermatitis (AD)-like skin changes, failure to thrive and normochromic anemia (Hb 60 g/L).

Pseudoachondroplasia: a case report.

Introduction: Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity and early onset osteoarthrosis. We present the girl with the early expressed and severe PSACH born to clinically and radiographically unaffected parents.

Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G>A.

We present a case of a 19-year old male with uncommon initial clinical cystic fibrosis (CF) presentation and a rare CFTR genotype, homozygote for c.1393-1G>A mutation (legacy name 1525-1G>A).

Celiac disease.

Celiac disease is a multysystemic autoimmune disease induced by gluten in wheat, barley and rye. It is characterized by polygenic predisposition, high prevalence (1%), widely heterogeneous expression and frequent association with other autoimmune diseases, selective deficit of IgA and Down, Turner and Williams syndrome. The basis of the disease and the key finding in its diagnostics is symptomatic or asymptomatic inflammation of the small intestinal mucosa which resolves by gluten-free diet.

Cystic fibrosis.

Cystic fibrosis (CF) is a multisystemic autosomal recessive disease caused by a defect in the expression of CFTR protein, i.e. chloride channel present in the apical membrane of respiratory, digestive, reproductive and sweat glands epithelium.

[Clinical characteristics and disease course in children with haemophagocytic lymphohistiocytosis treated at the University Children's Hospital in Belgrade].

Introduction: Haemophagocytic lymphohistiocytosis (HLH) is a disorder characterised by long-standing fever, splenomegaly and bicytopoenia or pancytopoenia. Lymphadenopathy, jaundice and neurological symptoms mayalsooccur. HLH may ensue in various forms of innate or acquired immunodeficiency with impaired cytotoxic lymphocyte function resulting in excessive macrophage activation.

Vitamin D in the light of current knowledge.

Vitamin D, i.e., 1.

Epilepsy in a child with Wolf-Hirschhorn syndrome.

Introduction: Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder characterized by facial dismorphy, multiple congenital anomalies, delayed psychomotor development and pharmaco-resistant epilepsy.

Case Outline: We present a 5-year-old girl with severe delay in growth and development, microcephaly, mild facial dismorphy and epilepsy. The pregnancy was complicated by intrauterine growth retardation.

Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea.

Introduction: Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. We are presenting an infant with pseudo-Bartter syndrome caused by congenital chloride diarrhoea.

Case Outline: A male newborn born in the 37th gestational week (GW) to young healthy and non-consanguineous parents.

Short-term corticosteroids for celiac crisis in infants.

We report two infants with celiac crisis who continued to have persistent secretory diarrhea despite gluten and lactose free diet and supportive parenteral nutrition. The children were given corticosteroid therapy. After a five-day oral prednisone in the dose of 2 mg/kg/daily, both patients rapidly recovered.

Change of bronchial hyperresponsiveness in asthmatic children.

Introduction: Bronchial hyperresponsiveness (BHR) is a factor in predicting bronchial asthma independently of inflammation markers.

Objective: The aims were to determine the frequency and important predictive facts of BHR and the effect of prophylaxis by Global Initiative for Asthma (GINA) and National Asthma Education and Prevention Program (NAEPP) on BHR in asthmatic children.

Methods: BHR in 106 children was evaluated by the bronchoprovocation test with methacholine.

Clinical characteristics of idiopathic ulcerative colitis in children.

Introduction: Idiopathic ulcerative colitis (IUC) represents a rare disease of childhood. It usually occurs at age over 10 years, and below that exceptionally rarely.

Objective: The aim of the paper was to analyze the clinical signs, symptoms and therapeutic procedures in children with IUC.