Elżbieta Pac-Kożuchowska

Cholesterol ester transfer protein (CETP) gene polymorphism and selected parameters of lipid metabolism in children from families with history of cardiovascular system diseases

Background Children from families with a history of cardiovascular system diseases are especially predisposed to early development of atherosclerosis. Therefore, the aim of this study was to examine the selected lipid parameters and polymorphisms of G279A located in the cholesterol ester transfer protein (CETP) gene. Material/Methods This longitudinal study was performed in 3 stages. During stage I the tests were carried out on 137 newborns after birth. Of these, we selected 30 children with a family history of cardiovascular system diseases. During stage II of the study the same children were evaluated at the age of 18–30 months, and during stage III at the age 5–6 years. Gestational age and the birth weight were evaluated in newborns. The older children were examined physically, and nutritional status was assessed. In all of the children examined, we determined the blood concentrations of triglycerides, total cholesterol, high-density lipoprotein (HDL) cholesterol, apolipoproteins (AI and B), lipoprotein(a) and polymorphisms, and the G279A locus of the CETP gene. Results In children with genotype B1B1 (after birth and aged 5–6 years), a significantly lower cholesterol concentration in the HDL fraction was found compared to those with genotype B1B2 and B2B2. Other biochemical parameters of lipid metabolism were not significantly different between these genetic polymorphisms. Conclusions A lower cholesterol concentration in the HDL fraction in children with a family history of cardiovascular system diseases was determined by polymorphism of the CETP gene. Homozygotes (genotype B1B1) show a tendency towards the phenotype favoring the development of atherosclerosis.

Inflammatory and Lipid-Associated Markers of Cardiovascular Diseases in Children with First Exacerbation of Inflammatory Bowel Disease

Background Adult patients with inflammatory bowel disease (IBD) are at increased risk of early atherosclerosis and atherosclerosis-driven cardiovascular diseases. However, data on the development of early, subclinical atherosclerosis in children with IBD are scarce. The aim of this study was to assess selected biomarkers of atherosclerosis in children with IBD. Material/Methods The study group comprised 30 children with first exacerbation of IBD. Twenty healthy children were enrolled into the control group. Total cholesterol, triglycerides, low-density lipoproteins (LDL), high-density lipoproteins (HDL), lipoprotein (a) (Lp(a)), interleukin 6 (Il-6), high sensitivity C-reactive protein (hs-CRP), and oxidized LDL (ox LDL) were determined. Results There were no significant differences in lipids profiles in IBD children and controls. Mean IL-6 level (8.996 pg/ml) was significantly higher in the IBD group compared to controls (3.502 pg/ml). Mean hs-CRP concentration was significantly higher in IBD children than in controls (7.648 and 1.290 μg/ml, respectively). In the IBD group, mean ox-LDL concentration (144.837 ng/ml) was lower than in controls (162.352 ng/ml), but the difference was non-significant (P=0.4). Mean Lp(a) serum level was higher in patients with IBD (19.418 mg/dl) than in controls (10.970 mg/dl), but it was also non-significant. Conclusions No significant differences were found in biomarkers of atherosclerosis in children with IBD compared to controls. Elevated IL-6 and hs-CRP level are well-established inflammatory markers. Further studies are needed to fully determine cardiovascular risk factors in IBD children.

Esophageal Duplication Cyst Treated Thoracoscopically During the Neonatal Period: Clinical Case Report.

AbstractEsophageal duplication cysts (EDCs) are rare developmental anomalies. They may occur anywhere along the esophagus with the predominant location in the thoracic segment. Presently, most are diagnosed prenatally or in early childhood. The prevalence of EDCs is estimated at 1 in 8200 live births. Usually, cysts are asymptomatic in the neonatal period, but they may cause respiratory distress or feeding difficulties depending on the size and location of the lesion.This report presents a female neonate with a cyst located in the right pleural cavity recognized prenatally. Computed tomography confirmed the diagnosis and revealed a round cystic mass in proximity to the left lung base. Thoracoscopic cyst excision was undertaken on day 15 after delivery. The postoperative period was uneventful. Histological cyst examination confirmed the diagnosis of foregut duplication.This case underlines the importance of early diagnosis and treatment of EDC, before symptoms and complications arise, and confirms that surgery in the neonatal period is safe and effective.

Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl

BackgroundFamilial partial lipodystrophy of the Dunnigan type (FPLD 2) is a rare autosomal dominant disorder caused by the mutations of the lamin A/C gene leading to the defective adipogenesis, premature death of adipocytes and lipotoxicity. FPLD 2 is characterized by a progressive loss of subcutaneous adipose tissue in the limbs and trunk, and accumulation of body fat in the face and neck with accompanying severe metabolic derangements including insulin resistance, glucose intolerance, diabetes, dyslipidemia, steatohepatitis. Clinical presentation of FPLD 2 can often lead to misdiagnosis with metabolic syndrome, type 2 diabetes or Cushing syndrome.Case presentationWe report a case of a 14-year-old girl admitted to the Department of Paediatrics due to chronic hypertransaminasemia. On physical examination the girl appeared to have athletic posture. She demonstrated the absence of subcutaneous adipose tissue in the extremities, sparing the face, neck and gluteal area, pseudo-hypertrophy of calves, prominent peripheral veins of limbs, massive acanthosis nigricans around the neck, in axillary and inguinal regions and natural skin folds, hepatosplenomegaly. Laboratory results revealed hypertransaminasemia, elevated γ-glutamyltranspeptydase, and dyslipidemia, hyperinsulinaemia with insulin resistance, impaired glucose tolerance, and hyperuricemia. Diffuse steatoheptitis in the liver biopsy was stated. Clinical suspicion of FPLD 2 was confirmed genetically. The pathogenic mutation, R482W (p.Arg482Trp), responsible for the FPLD 2 phenotype was identified in one allele of the LMNA gene.ConclusionsPresented case highlights the importance of the holistic approach to a patient and the need of accomplished collaboration between paediatricians and geneticists. FPLD 2 should be considered in the differential diagnosis of diabetes, dyslipidemia, steatohepatitis, acanthosis nigricans and polycystic ovary syndrome.

Acute acalculous cholecystitis in a 17-year-old girl with Epstein-Barr virus infection

Acute cholecystitis is most frequently concomitant with cholelithiasis, whereas acute acalculous cholecystitis is usually of an infectious aetiology. Among the aetiological factors, Epstein-Barr virus (EBV) infection is also mentioned. The case of a 17-year-old girl is described, hospitalised in the Childrens Clinical Hospital, Paediatric Clinic, at the Medical University in Lublin, due to fever, upper abdomen pain lasting for a week, and nausea for several days. Based on the diagnostic – laboratory tests performed and ultrasonographic examination, acute acalculous cholecystitis was diagnosed, taking course with elevated aminotransferase activity and features of cholestasis. Serological tests confirmed an acute infection with Epstein-Barr virus. After 2 weeks of hospitalisation, the patient, receiving conservative treatment, was discharged home in good condition. A follow-up examination performed 2 weeks later did not show deviation from normal.

Exceptional manifestation of polyautoimmunity in a very young girl – a case report

Polyautoimmunity is defined as the presence of more than one autoimmune disease in a single patient. The exact pathogenic mechanisms responsible for the coexistence of distinct autoimmune diseases within an individual have not been clearly explained. We report a case of a very young girl with the extremely rare co-existence of four distinct autoimmune diseases i.e. juvenile idiopathic arthritis, type 1 diabetes mellitus, coeliac disease and autoimmune hepatitis, recognized based on validated international classification criteria. The best to our knowledge there has been no case reporting coexistence of these particular four disorders in an individual. Moreover, all these diseases occurred during first three years of life, which also cause that case unique. Molecular studies of human leukocyte antigen (HLA) class II in our patient showed the presence of the HLA DRB1*01, HLA DRB1*03, HLA DQB1*02, HLA DQB1*05 molecules, which may suggest immunogenetic links between those autoimmune diseases. The presented case highlights the importance of active screening for other autoimmune diseases, if a patient with one autoimmune disease manifests with new or nonspecific symptoms.

Alcohol intoxication among adolescents and children in urban and rural environments – a retrospective analysis

INTRODUCTION AND OBJECTIVE Drinking alcohol by adolescents and children poses a risk of long-term psychological and sociological consequences, often leading to addiction in adulthood. A steady increase in the number of young people reaching for alcohol is worrying. The study analyzes the age and gender of the children, concentration of alcohol in the blood, depending on the origin of the youth (urban or rural). MATERIAL AND METHODS The study was a retrospective analysis of 402 patients hospitalized due to alcohol intoxication in the Department of Paediatrics at Medical University in Lublin, Poland between 2004 - 2013. RESULTS During the study period a continuous increase in admissions of patients after alcohol consumption was observed: from 27 children in 2004 to 53 in 2012 and 2013. The youngest patient hospitalized after drinking was 7.6 years old and came from the rural environment, the oldest 18 years old and came from the urban environment. In 2004 - 2007, boys dominated among children intoxicated with alcohol; since 2008, a slight prevalence of girls has been observed, especially in the urban environment. Among patients coming from the country, boys always predominated. In the study period there was noted a similar number of children consuming alcohol from rural and urban environments. CONCLUSIONS The results suggest the need to introduce appropriate educational programmes in schools to prevent the consumption of alcohol at a young age.

Intentional and accidental paracetamol poisoning in childhood - a retrospective analysis.

INTRODUCTION Paracetamol is one of the most commonly used analgesics and antipyretics available without limits as preparations of the OTC group (over the counter drugs). Overdose and poisoning with this drug always brings about the risk of acute hepatic failure. The objective of the study was a retrospective evaluation of patients hospitalized in the Paediatric Clinic during the period 2004-2012 due to poisoning with paracetamol. MATERIAL AND METHODS The analysis covered 44 patients hospitalized in the Paediatric Clinic during 2004-2012 due to poisoning with paracetamol. Patients were divided into three groups: intentional poisonings, accidental poisonings, and drug overdose. RESULTS During the period of the study, 44 patients aged 2.1-17.1, poisoned with paracetamol, were hospitalized. Among these patients there were 30 (68.2%) cases of intentional poisonings, 10 (22.7%) of accidental poisonings, and only 4 patients (9.1%) were children hospitalized after a paracetamol overdose. The majority of patients in all groups were females (93.3%). DISCUSSION Paracetamol intoxication may occur after exceeding a single allowable dose, in the case of intentional poisoning, more rarely after exceeding the daily dose, in the case of intense pain complaints, or in the treatment of persistent fever. Based on the analysis performed, an increase was observed in the frequency of poisoning with paracetamol, especially intentional poisoning. Unlimited access to paracetamol as an OTC drug should be reconsidered.

The role of hepcidin in iron metabolism in inflammatory bowel diseases

Hepcidin is a 25-amino-acid peptide synthesized predominantly in hepatocytes, which plays an essential role in the regulation of systemic iron homeostasis. As a result of inflammation, hepcidin binds to ferroportin resulting in its internalization and degradation in enterocytes and macrophages. Thus iron is trapped in both enterocytes and macrophages, leading to functional hypoferremia. In iron deficiency or enhanced erythropoiesis, hepcidin expression is reduced. That fact results in increase of iron absorption and releasing iron storage from macrophages. The discovery of the biological properties of hepcidin clarified the relationship between iron homeostasis, immune response, and anaemia of chronic disease. Anaemia is the most common extra intestinal manifestation of inflammatory bowel disease. Anaemia significantly reduces the quality-of-life among patients and can lead to a number of serious complications, even life-threatening. The main types of anaemia in inflammatory bowel diseases are iron deficiency anaemia and anaemia of chronic disease. These two types of anaemia coexist commonly. The key issue is differentiation these types of anaemia to implement a proper management. Commonly used parameters as iron concentration, ferritin and transferrin, are rather unreliable indices for the evaluation of anaemia in inflammatory bowel diseases. In recent studies the important role of hepcidin as a potential alternative marker of anemia and iron status has been shown. Moreover, there are data that antihepcidin treatment may be an effective treatment of anaemia of chronic disease in inflammatory bowel disease. This paper presents hepcidin structure, mechanism of action and regulation, and highlights hepcidin function in anaemia in inflammatory bowel disease.

Selected risk factors for atherosclerosis in children and their parents with positive family history of premature cardiovascular diseases: a prospective study

BackgroundThe aim of the study was to evaluate serum parameters of lipid metabolism, homocysteine, soluble adhesion molecules and common carotid artery wall thickness in children from families with early symptoms of atherosclerosis.MethodsThe first stage included 137 pairs of mothers and newborns, and the second 18 children from the same group (age 18-30 months) and their parents (age 21-46 years) with a history of premature coronary artery disease (CAD), as well as 12 age- and sex-matched controls.ResultsDuring the first stage, inverse correlations were found between birthweight, cord blood concentrations of triglycerides (TG), VLDL cholesterol and apolipoprotein B (Apo B). Serum concentrations of total cholesterol (TC), apolipoprotein A1 (Apo A1), LDL and HDL cholesterol and were significantly higher in female than in male newborns. During the second stage, children from families with a history for premature CAD were shown to present with significantly higher serum concentrations of TG, VLDL cholesterol and lipoprotein A (Lp(a)) than the controls. Furthermore, their TC correlated positively with vascular cell adhesion molecule-1 (Rs=0.717, p<0.05) and intracellular adhesion molecule-1 (sICAM-1) levels (Rs=0.833, p<0.05). Moreover, positive correlations were found between maternal carotid intima media thickness (IMT) and TC (Rs=0.831, p<0.01), as well as between paternal IMT and Apo B (Rs=0.692, p<0.05), TG and sICAM-1 (Rs=0.912, p<0.01), TG and sE-selectin (Rs=0.678, p<0.05).ConclusionsSerum Lp(a) may serve as a maker of cardiovascular risk in children and adolescents.