Agnieszka Mroczkowska-Juchkiewicz

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.

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.

Intentional poisonings in urban and rural children – a 6-year retrospective single centre study

INTRODUCTION Intentional poisonings among children and adolescents are a problem not only for paediatricians, but also constitute a big issue for public health. In many countries worldwide, including Poland, an increase has been observed in suicidal behaviours at developmental age. OBJECTIVE The aim of the study was a retrospective evaluation of patients hospitalized due to intentional poisoning in the Department of Paediatrics, Childrens University Hospital in Lublin, Poland, in 2007-2012. MATERIALS AND METHODS In the study period, 149 patients were hospitalized in the Paediatric Department of the Childrens University Hospital in Lublin, due to intentional poisoning with medicines or other chemical substances. The study group comprised 135 girls and 14 boys; The majority of patients (n=105) were urban inhabitants, and only 44 lived in the rural areas. Medical records were analyzed, with consideration of medical, psychological and psychiatric examinations. RESULTS Girls constituted as much as 90.6% of the study group. The majority of patients lived in urban areas - 70.46%. A total of 16.77 % of patients came from incomplete families. Alcohol problem occurred in 19 families. The most frequent cause of a suicide attempt was conflict in the family, followed by school problems. During the 6-year-study period, an upward tendency in the incidence of intentional poisoning was observed, particularly in the first 4 years. DISCUSSION AND CONCLUSION Suicide attempts in adolescents were mostly undertaken by girls from the urban environment. The majority of those attempts were caused by family problems, including alcoholism.

Patterns of Poisoning in Urban and Rural Children: A Single-Center Study.

BACKGROUND Poisoning among children is a current issue in pediatrics. The pattern and risk factors of poisoning are heterogeneous and vary within the same country. OBJECTIVES The aim of the study was to analyze the determinants in the incidence and nature of poisoning between urban and rural children, in order to identify children at higher risk. MATERIAL AND METHODS The study entailed a retrospective analysis of the medical records of 848 children admitted to the Department of Pediatrics at the Medical University of Lublin, Poland, due to exposure to poison from July 2008 to December 2012. The patients were divided into urban and rural. RESULTS The majority of the subjects came from urban areas (64.50%). In both groups the most numerous were children aged ≤ 5 years and 14-15 years. Among urban boys, children younger than 5 years old predominated, while among urban girls, teenagers aged 14-15 years comprised the largest group (p = 0.00). In the rural population children younger than 5 years were the most prevalent regardless of gender. The incidence of intentional intoxication increased with age, while the incidence of accidental poisoning decreased with age (p = 0.00). Among urban children there was a significant association between gender and the nature of poisoning (p = 0.00). The most common cause of poisoning was the use of non-pharmaceuticals, with alcohol predominating. CONCLUSIONS The study indicates that poisoning is more likely in urban children. Among urban children there is a bimodal gender distribution with a preponderance of pre-school boys in accidental poisoning and of teenage girls in intentional ones. However, among rural children the most prevalent was accidental poisoning by improperly stored medicines and household chemicals. Urban children commonly use alcohol and narcotics.