Mieczysława Czerwionka-Szaflarska

Parental age as a risk factor for isolated congenital malformations in a Polish population.

Currently available data on the relationship between the prevalence of isolated congenital malformations and parental age are inconsistent and frequently divergent. We utilised the data from the Polish Registry of Congenital Malformations (PRCM) to accurately assess the interplay between maternal and paternal age in the risk of isolated non-syndromic congenital malformations. Out of 902 452 livebirths we studied 8683 children aged 0-2 years registered in the PRCM. Logistic regression was used to simultaneously adjust the risk estimates for maternal and paternal age. Our data indicated that paternal and maternal age were independently associated with several congenital malformations. Based on our data, young maternal and paternal ages were independently associated with gastroschisis. In addition, young maternal age, but not young paternal age, carried a higher risk of neural tube defects. Advanced maternal and paternal ages were both independently associated with congenital heart defects. Moreover, there was a positive association between advanced paternal age and hypospadias, cleft palate, and cleft lip (with or without cleft palate). No significant relationships between parental age and the following congenital malformations were detected: microcephaly, hydrocephaly, oesophageal atresia, atresia or stenosis of small and/or large intestine, ano-rectal atresia or stenosis, renal agenesis or hypoplasia, cystic kidney disease, congenital hydronephrosis, diaphragmatic hernia and omphalocele.

The usefulness of ultrasound examination of the bowel as a method of assessment of functional chronic constipation in children

BackgroundUltrasonographic assessment of stool retention in children with chronic constipation requires the diagnosis of megarectum.ObjectiveThe aim of the study was to evaluate an atypical method of US assessment of megarectum, fecal impaction and enlarged colon in order to decide whether it can be used as an assessment method for children with functional chronic constipation.Materials and methodsA total of 120 children with a positive diagnosis of chronic constipation were included in the study. All patients fulfilled the ROME II diagnostic criteria for defecation disorders. The control group comprised 105 patients with a normal defecation pattern. Children with a US diagnosis of megarectum, fecal impaction and enlarged colon were referred for proctoscopy and measurement of colonic transit time.ResultsThe transverse diameter of the rectal ampulla increases with age and thus influenced the US measurements in both the patient and control groups. The numerical values of this parameter differed significantly between patients and controls in all age groups. The rectopelvic ratio is the ratio of the width of the rectal ampulla (as seen by US) to the distance between the anterior superior iliac spines (measured externally using a measuring tape). This allows the definition of megarectum. In the diagnosis of fecal impaction, US showed a sensitivity of 88.3% relative to proctoscopy. In children with fecal impaction the colonic transit time, average segmental transit time for the rectum and sigmoid colon, and average segmental transit time for the left colon were significantly longer. There was no statistically significant difference for the right side of the colon.ConclusionUS assessment of stool retention and overfilling of the colon in children with functional chronic constipation has a high correlation with proctoscopy findings and colonic transit time. The rectopelvic ratio can be used to diagnose megarectum in children with functional chronic constipation with a cut-off value of 0.189.

Epidemiology of inflammatory bowel disease among children in Poland. A prospective, population-based, 2-year study, 2002-2004.

Background/Aims: The incidence of pediatric inflammatory bowel disease (IBD) in Western countries is on the rise. No prospective studies have been conducted on the epidemiology of pediatric IBD in Poland. The aim of the study was to define the characteristics of new pediatric IBD and assess the incidence of new IBD among children in Poland between 2002 and 2004. Methods: Patient records from 24 pediatric gastroenterology centers servicing the whole population of Poland were collected. IBD diagnosis was based on clinical, radiological, endoscopic and histological features. Results: There were 491 new IBD patients, representing an overall incidence of IBD of 2.7 cases/100,000 children/year. The incidence of Crohn’s disease (CD) was 0.6, ulcerative colitis (UC) 1.3, and indeterminate colitis (IC) 0.8. The age-related incidence of IBD was 1.8 in the 0- to 10-year-old age group, rising to 3.7 for the 11- to 18-year age group. Conclusions: The overall incidence of IBD (as well as CD, UC and IC) in Poland is lower than that in Western countries. The relative contribution of UC and IC to the overall IBD incidence is higher in Poland than in most Western countries. These findings may suggest a tendency towards under- or misdiagnosis.

Oxidatively Damaged DNA/Oxidative Stress in Children with Celiac Disease

Background: Because patients with celiac disease face increased risk of cancer and there is considerable circumstantial evidence that oxidatively damaged DNA may be used as a marker predictive of cancer development, we decided, for the first time, to characterize oxidative stress/oxidative DNA damage in celiac disease patients. Methods: Two kinds of oxidatively damaged DNA biomarkers, namely, urinary excretion of 8-oxodG and 8-oxoGua, and the level of oxidatively damaged DNA in the leukocytes, as well as the level of antioxidant vitamins were analyzed using high-performance liquid chromatography (HPLC) and HPLC/gas chromatography with isotope dilution mass detection methods. These parameters were determined in three groups: (a) children with untreated celiac disease, (b) patients with celiac disease on a strict gluten-free diet, and (c) healthy children. Results: The mean level of 8-oxodG in DNA isolated from the leukocytes and in the urine samples of the two groups of celiacs was significantly higher than in controls, irrespective of diet. There was no statistically significant difference in these parameters between treated and untreated celiacs. The mean plasma retinol and α-tocopherol concentration in the samples of untreated celiacs was significantly lower than in treated celiacs. Conclusion: Our results suggest that although diet can be partially responsible for oxidative stress/oxidatively damaged DNA in celiac patients, there is a factor independent of diet. Impact: It is possible that celiac disease patients may be helped by dietary supplementation rich in vitamin A (and E) to minimize the risk of cancer development. Cancer Epidemiol Biomarkers Prev; 19(8); 1960–5. ©2010 AACR.

Mannan-binding lectin deficiency in pediatric patients with inflammatory bowel disease

Abstract Objective. The incidence of inflammatory bowel disease (IBD) in Europe has increased significantly. At least a fourth of patients are children. Mannan-binding lectin (MBL) is believed to be an important component of innate immunity, acting as an opsonin and activator of the lectin pathway (LP) of complement. The data relating any of the LP factors to IBD are sparse and contradictory and were obtained mainly from adult patients. The aim of this study was to investigate the possible role of MBL in Crohns disease (CD) and ulcerative colitis (UC) in children. Methods. MBL2 gene single nucleotide polymorphisms (PCR-RFLP) and MBL concentrations (ELISA) were determined. Results. The frequency of MBL2 gene variants responsible for MBL deficiency (LXPA/O and O/O) is significantly higher in CD patients compared with controls or children with UC. A relatively high frequency of the codon 52 mutation (D allele) was noted in these patients. Practically no difference was found between UC and control (C) groups. Similarly, the average MBL levels as well as the number of MBL-deficient (MBL concentrations < 150 ng/ml) individuals differed between CD patients and controls or children suffering from UC. Again, there was no difference between UC and C groups. Conclusions. These data suggest that MBL deficiency may be associated with CD but not with UC in pediatric patients. The possible role of MBL in IBD requires confirmation in larger series and further investigation of the mechanisms involved.

Innate Immunity Components and Cytokines in Gastric Mucosa in Children with Helicobacter pylori Infection

Purpose. To investigate the expression of innate immunity components and cytokines in the gastric mucosa among H. pylori infected and uninfected children. Materials and Methods. Biopsies of the antral gastric mucosa from children with dyspeptic symptoms were evaluated. Gene expressions of innate immunity receptors and cytokines were measured by quantitative real-time PCR. The protein expression of selected molecules was tested by immunohistochemistry. Results. H. pylori infection did not lead to a significant upregulation of MyD88, TLR2, TLR4, CD14, TREM1, and TREM2 mRNA expression but instead resulted in high mRNA expression of IL-6, IL-10, IFN-γ, TNF-α, and CD163. H. pylori cagA(+) infection was associated with higher IL-6 and IL-10 mRNA expression, as compared to cagA(−) strains. H. pylori infected children showed increased IFN-γ and TNF-α protein levels. IFN-γ mRNA expression correlated with both H. pylori density of colonization and lymphocytic infiltration in the gastric mucosa, whereas TNF-α protein expression correlated with bacterial density. Conclusion. H. pylori infection in children was characterized by (a) Th1 expression profile, (b) lack of mRNA overexpression of natural immunity receptors, and (c) strong anti-inflammatory activities in the gastric mucosa, possibly resulting from increased activity of anti-inflammatory M2 macrophages. This may explain the mildly inflammatory gastric inflammation often observed among H. pylori infected children.

Pediatric Helicobacter pylori Infection and Circulating T-Lymphocyte Activation and Differentiation

Background:  In this study, H. pylori‐infected and noninfected children with gastritis were compared to a control group with respect to circulating CD4+ and CD8+ T lymphocytes expressing activation and differentiation markers. Additionally, the lymphocyte phenotypes of children with gastritis were correlated with the gastric inflammation scores.

Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: Further evidence for separation

BACKGROUND Amniotic rupture sequence (ARS) is a disruption sequence presenting with fibrous bands, possibly emerging as a result of amniotic tear in the first trimester of gestation. Our comparative study aims to assess whether there is a difference in the clinical pattern of congenital limb and internal organ anomalies between ARS with body wall defect (ARS-BWD) and ARS without BWD (ARS-L). METHODS Among 1,706,639 births recorded between 1998 and 2006, 50 infants with a diagnosis of ARS were reported to the Polish Registry of Congenital Malformations. The information on 3 infants was incomplete, thus only 47 cases were analyzed. These infants were classified into groups of ARS-L (38 infants) and ARS-BWD (9 infants). RESULTS The ARS-BWD cases were more frequently affected by various congenital defects (overall p < 0.0001), and in particular by urogenital malformations (p = 0.003). In both groups, limb reduction defects occurred in approximately 80% of cases; however, minor and distal limb defects (phalangeal or digital amputation, pseudosyndactyly, constriction rings) predominated in the ARS-L group (p = 0.0008). The ARS-L group also had a higher frequency of hand and upper limb involvement. CONCLUSIONS This observation suggests that amniotic band adhesion in ARS-L takes place at a later development stage. Although limited by a small sample size, our study contributes to the growing evidence that both ARS entities represent two nosologically distinct conditions.

Stanowisko Grupy Ekspertów w sprawie profilaktyki biegunki związanej ze stosowaniem antybiotyków u dzieci

Streszczenie Stosowanie antybiotykow związane jest z mozliwością wystąpienia biegunki. Jej przebieg moze byc rozny: od najcześciej wystepującej, lagodnej i samoograniczającej sie biegunki, poprzez zapalenie jelit i/lub okreznicy, do najciezszej postaci, jaką jest rzekomobloniaste zapalenie jelita grubego. Biegunka związana z antybiotykoterapią najcześciej wystepuje po amoksycylinie, amoksycylinie z kwasem klawulanowym oraz cefuroksymie. W leczeniu biegunki związanej z antybiotykoterapią zasadniczym elementem jest odstawienie antybiotyku, a w przypadku rzekomobloniastego zapalenia jelit zastosowanie metronidazolu lub wankomycyny. W profilaktyce biegunki związanej z antybiotykoterapią zastosowanie mogą miec probiotyki o udokumentowanym dzialaniu.

Stanowisko Grupy Ekspertów w sprawie suplementacji kwasu dokozaheksaenowego i innych kwasów tłuszczowych omega-3 w populacji kobiet ciężarnych, karmiących piersią oraz niemowląt i dzieci do lat 3

Streszczenie Kwasy tluszczowe omega-3 są niezbedne do zachowania funkcji organizmu czlowieka w kazdym wieku. Szczegolne zapotrzebowanie na te skladniki odzywcze wystepuje w okresie ciązy, laktacji oraz okresie niemowlecym i wczesnego dziecinstwa, a wyjątkową role przypisuje sie kwasowi dokozaheksaenowemu (DHA). Normy spozycia określają zapotrzebowanie na kwasy tluszczowe omega-3, jednak istotne jest zdefiniowanie potencjalnych korzyści suplementacji i oszacowanie skutecznych i bezpiecznych dawek oraz formy spozycia. Zapewnienie prawidlowej zawartości w diecie i dostepności omega-3 dla organizmu podczas QID wplywa korzystnie na czas trwania ciązy i mase plodu; niejednoznaczne są wyniki dotyczące wplywu na rozwoj psychomotoryczny i ostrośc widzenia niemowląt oraz obnizenie ryzyka wystąpienia depresji poporodowej. Suplementacja kobiet karmiących wplywa na zawartośc DRA w pokarmie kobiecym, nie ustalono jednak wplywu takiego postepowania na rozwoj niemowlecia. Minimalne zapotrzebowanie na DHA w ciązy i podczas laktacji wynosi 200 mg/dobe. W przypadku niskiego spozycia ryb sugerowana jest suplementacja DHA w dawkach dobowych 2–3 razy wiekszych od dawki minimalnej. Suplementacja mleka modyfikowanego dla niemowląt kwasami omega-3 podlega osobnym regulacjom. Wyzsza zawartośc DHA (ok. 0,3% wszystkich kwasow tluszczowych) jest związana z korzystnym wplywem na rozwoj ostrości widzenia. Sugeruje sie suplementacje DHA diety malych dzieci w przypadku niskiego spozycia ryb w dawkach okolo lsof100 mg/dobe. Nieliczne badania przeprowadzone w tej grupie wiekowej nie pozwalają na jednoznaczne wskazanie korzyści, sugerowane jest zmniejszenie czestości infekcji. Zwraca sie uwage na niebezpieczenstwo stalego spozycia niektorych ryb morskich przez kobiety ciezarne, karmiące, niemowleta oraz male dzieci ze wzgledu na obecne w tych rybach zanieczyszczenia.